question
stringlengths 84
268
| answer
stringlengths 6
879
| reference_sequence
stringlengths 4.1k
4.1k
| mutated_sequence
stringlengths 4.1k
4.1k
| cleaned_pathogenicity
stringclasses 2
values | __index_level_0__
int64 67
343k
|
|---|---|---|---|---|---|
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 45507544, gene MMACHC (metabolism of cobalamin associated C): what disease(s) if pathogenic?
|
pathogenic; ['Cobalamin_C_disease']
|
GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTT
|
GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTNNNN
|
pathogenic
| 8,817 |
Does the genetic variant at chromosome 1, position 45508219, impacting gene MMACHC (metabolism of cobalamin associated C), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']
|
GATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGA
|
GATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAG
|
pathogenic
| 8,823 |
Variant at chromosome 1, position 45508242, gene MMACHC (metabolism of cobalamin associated C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Cobalamin_C_disease']
|
CGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACA
|
CGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACANNNN
|
pathogenic
| 8,825 |
Evaluate the clinical significance of the mutation at chromosome 1, position 45508260 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']
|
TGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCC
|
TGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCNNNN
|
pathogenic
| 8,829 |
Does the variant impacting MMACHC (metabolism of cobalamin associated C) on chromosome 1, position 45508284, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Cobalamin_C_disease', 'likely other unspecified diseases']
|
CTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCT
|
CTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTN
|
pathogenic
| 8,832 |
Regarding the variant at chromosome 1 and position 45508316, affecting gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Cobalamin_C_disease', 'MMACHC-related_disorder']
|
TTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTG
|
TTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGNNN
|
pathogenic
| 8,833 |
Evaluate the clinical significance of the mutation at chromosome 1, position 45508318 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Cobalamin_C_disease']
|
TTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGAC
|
TTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTATACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACN
|
pathogenic
| 8,834 |
Variant chromosome 1, position 45508332, gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? Disease(s)?
|
pathogenic; ['Cobalamin_C_disease']
|
TCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGA
|
TCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGANN
|
pathogenic
| 8,838 |
Evaluate this variant at chromosome 1, position 45508798, gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Cobalamin_C_disease']
|
GTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGC
|
GTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCNN
|
pathogenic
| 8,842 |
Located at chromosome 1 position 45508799, the variant affecting gene MMACHC (metabolism of cobalamin associated C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Cobalamin_C_disease']
|
TGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCT
|
TGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATTATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGC
|
pathogenic
| 8,843 |
A mutation at chromosome position 45508805 on chromosome 1 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']
|
GATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCT
|
GATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTNN
|
pathogenic
| 8,845 |
Chromosome 1, position 45508809, gene MMACHC (metabolism of cobalamin associated C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Cobalamin_C_disease']
|
ATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTC
|
ATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGCTGGGGCTGGTTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCNNNNNNN
|
pathogenic
| 8,848 |
Variant chromosome 1, position 45508862, gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? Disease(s)?
|
pathogenic; ['Cobalamin_C_disease']
|
GTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTC
|
GTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATT
|
pathogenic
| 8,860 |
Mutation at chromosome 1, position 45508864, within MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Cobalamin_C_disease']
|
AGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCC
|
AGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCN
|
pathogenic
| 8,861 |
Evaluate the clinical significance of the mutation at chromosome 1, position 45508869 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Cobalamin_C_disease']
|
GATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATAT
|
GATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATNNNNNNNNNNNNN
|
pathogenic
| 8,862 |
Variant in gene MMACHC (metabolism of cobalamin associated C), located at chromosome 1 position 45508870: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Cobalamin_C_disease']
|
ATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATC
|
ATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCNN
|
pathogenic
| 8,863 |
Gene MMACHC (metabolism of cobalamin associated C) variant at chromosome 1, position 45508905—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Cobalamin_C_disease']
|
TCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCA
|
TCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGA
|
pathogenic
| 8,864 |
Mutation at chromosome 1, position 45508909, within MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']
|
TAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTC
|
TAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCNN
|
pathogenic
| 8,865 |
Variant in MMACHC (metabolism of cobalamin associated C), chromosome 1, position 45508913—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Cobalamin_C_disease']
|
TAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCT
|
TAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTC
|
pathogenic
| 8,866 |
Located at chromosome 1 position 45508929, the variant affecting gene MMACHC (metabolism of cobalamin associated C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Cobalamin_C_disease']
|
GCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACA
|
GCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAN
|
pathogenic
| 8,867 |
Gene mutation in MMACHC (metabolism of cobalamin associated C) at chromosome 1, position 45508932—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']
|
AGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGG
|
AGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGG
|
pathogenic
| 8,871 |
Variant chromosome 1, position 45508979, gene MMACHC: benign or pathogenic? Disease(s)?
|
pathogenic; ['Cobalamin_C_disease']
|
AGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCT
|
AGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTAACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGC
|
pathogenic
| 8,879 |
Regarding the variant found on chromosome 1 at position 45508982 in gene MMACHC: is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Cobalamin_C_disease']
|
CAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCC
|
CAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTC
|
pathogenic
| 8,883 |
Regarding the variant at chromosome 1 and position 45508989, affecting gene MMACHC: benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Cobalamin_C_disease']
|
GTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATA
|
GTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATANN
|
pathogenic
| 8,886 |
Chromosome 1, position 45508991, gene MMACHC: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Cobalamin_C_disease']
|
CCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAA
|
CCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAA
|
pathogenic
| 8,887 |
The chromosome 1, position 45508996 genetic variant in gene MMACHC: benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Cobalamin_C_disease']
|
CTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTC
|
CTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCN
|
pathogenic
| 8,888 |
The chromosome 1, position 45509021 genetic variant in gene MMACHC: benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Cobalamin_C_disease', 'MMACHC-related_disorder', 'Methylmalonic_acidemia_with_homocystinuria_cblC']
|
CCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCATCAAGGTCTCAGTTCAAGTTTAAT
|
CCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCATCAAGGTCTCAGTTCAAGTTTAATNNN
|
pathogenic
| 8,890 |
Evaluate this variant at chromosome 1, position 46189476, gene TSPAN1: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']
|
ACTTCCCTTTGACCCCTGTAACTCTCTTCCTGAGCTTTTCCAGGGCAGCCCAGAACCACCACCCCCTTGCTGAGCCCAGAAAGGAAGAGGGACCTGGCCAGAACCAAACAGTGCCTTAGAGCTGGTCTGTGAGGGCCAGACCAGGAGCCTGCTAGGGTGCGGGACAGGGGGAGGAGCTAGCCTGCCTCACCCCTTCACCACCATACTGTGCCTCTCACACTTCTCCTCTGCCGTGTGCCTGTGTGGAGGCTGCATGGGATTTGTTTGCCCAGGGCGGGCCTCTACCTCATCATGGGCTAATTGCTGCTCAACCTGGCTGTTGTGCCACCTCAGGCACTATATCCAGCTCCAACAAACACTGAAGGCGTCAGGGTGGCGAGATATGTCCAAGCGACATACCACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTA
|
ACTTCCCTTTGACCCCTGTAACTCTCTTCCTGAGCTTTTCCAGGGCAGCCCAGAACCACCACCCCCTTGCTGAGCCCAGAAAGGAAGAGGGACCTGGCCAGAACCAAACAGTGCCTTAGAGCTGGTCTGTGAGGGCCAGACCAGGAGCCTGCTAGGGTGCGGGACAGGGGGAGGAGCTAGCCTGCCTCACCCCTTCACCACCATACTGTGCCTCTCACACTTCTCCTCTGCCGTGTGCCTGTGTGGAGGCTGCATGGGATTTGTTTGCCCAGGGCGGGCCTCTACCTCATCATGGGCTAATTGCTGCTCAACCTGGCTGTTGTGCCACCTCAGGCACTATATCCAGCTCCAACAAACACTGAAGGCGTCAGGGTGGCGAGATATGTCCAAGCGACATACCACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAN
|
pathogenic
| 8,922 |
A mutation at chromosome position 46189875 on chromosome 1 in gene TSPAN1: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
CACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC
|
CACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACNNNNN
|
pathogenic
| 8,936 |
Does the variant on chromosome 1 at location 46189893 affecting gene TSPAN1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy']
|
GTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATC
|
GTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCNNNNN
|
pathogenic
| 8,937 |
Does the variant on chromosome 1 at location 46189940 affecting gene TSPAN1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3']
|
GAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTT
|
GAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTNNNN
|
pathogenic
| 8,939 |
Gene mutation in TSPAN1 at chromosome 1, position 46189943—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']
|
GGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCC
|
GGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCNN
|
pathogenic
| 8,940 |
Does the variant impacting TSPAN1 on chromosome 1, position 46189952, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']
|
TCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTAC
|
TCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCAACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTA
|
pathogenic
| 8,941 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 46190757, gene TSPAN1: what disease(s) if pathogenic?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'POMGNT1-related_disorder', 'Retinitis_pigmentosa_76']
|
AATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGT
|
AATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTG
|
pathogenic
| 8,956 |
Is chromosome 1, position 46190767, gene TSPAN1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']
|
TTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGT
|
TTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTN
|
pathogenic
| 8,958 |
Is the chromosome 1, position 46190778 variant in TSPAN1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
TGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAG
|
TGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGN
|
pathogenic
| 8,959 |
Mutation found at chromosome 1 position 46192096, gene TSPAN1: benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
ACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGA
|
ACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCAGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAN
|
pathogenic
| 8,965 |
Regarding the variant at chromosome 1 and position 46192366, affecting gene TSPAN1: benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
ACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGA
|
ACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGANNNNN
|
pathogenic
| 8,975 |
Variant at chromosome position 46192498, chromosome 1, gene TSPAN1: benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']
|
ACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTA
|
ACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTANNNNNNNNNNNNNNNNNN
|
pathogenic
| 8,981 |
Clinically, how would you classify the variant at chromosome 1, position 46193309, gene TSPAN1: benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
CTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCA
|
CTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCANN
|
pathogenic
| 8,993 |
Does the chromosome 1 mutation at position 46193334 within gene TSPAN1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']
|
CTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAA
|
CTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAAN
|
pathogenic
| 8,994 |
Located at chromosome 1 position 46193587, the variant affecting gene TSPAN1—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']
|
CCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAG
|
CCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGNN
|
pathogenic
| 8,998 |
Is the chromosome 1, position 46193607 variant in TSPAN1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy']
|
TTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTT
|
TTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATT
|
pathogenic
| 9,000 |
A mutation at chromosome position 46194274 on chromosome 1 in gene TSPAN1: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Muscular_dystrophy-dystroglycanopathy']
|
GGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCT
|
GGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTN
|
pathogenic
| 9,007 |
Gene TSPAN1 variant at chromosome position 46194277 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3']
|
AGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTG
|
AGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGN
|
pathogenic
| 9,008 |
Does the chromosome 1 mutation at position 46195866 within gene TSPAN1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
CTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCC
|
CTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCAGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCN
|
pathogenic
| 9,027 |
Gene TSPAN1 variant at chromosome 1, position 46195933—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
ATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATA
|
ATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATAGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACC
|
benign
| 9,029 |
Determine whether the variant at chromosome 1, position 46196041, in gene TSPAN1 is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
GACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCA
|
GACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAN
|
pathogenic
| 9,030 |
Assess the variant on chromosome 1, position 46196733, impacting POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
CCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCC
|
CCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCN
|
pathogenic
| 9,033 |
Determine whether the variant at chromosome 1, position 46196821, in gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
CCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTC
|
CCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCN
|
pathogenic
| 9,038 |
Mutation at chromosome 1, position 46196970, within POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']
|
GAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGC
|
GAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCNN
|
pathogenic
| 9,042 |
The mutation in gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) at chromosome 1, position 46197019—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']
|
CAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT
|
CAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCTCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCC
|
pathogenic
| 9,044 |
Evaluate this variant at chromosome 1, position 46198533, gene POMGNT1: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
GCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTTTATTACATTTGAAAAGATGTCCCGGCTGGGCACCATGACTCACGTAATCCCAGCAGGTTGGGAGGCCGAGGTGGGGTGGTCAGTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGACAGGCGCCTATAATCGTAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGACAGAAGTTGCAGTTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAATAAAAAAATAAAAATAAATAATTAAAAGATGTCCCTCAGGGTTCCTTCCTGACCCTCTTTTCTCCTCAAACTGACTCTTCATGGATGATCTCATTCTCTCATGACCTCTGTTACCAATCTAGATGCCCAAACTGACATTGGCAGTTCTAACCTCTTTCCTGAGCTCCAGGCTGCCTGATGTCCAGCAGGACATCTTCACAGGCCCCTCTAACGCAACAGCACAACTTCTGGAATCATTTCCTTTCACTCCTAGATTTCCTGTGGGTTCCCCTCCTCAGTGAACTGCACCAGGCCAAACAGCTGGGAGTCACCCTTGACTCCTTGTCTGTCTCCAGTGACCAGTCCAGGTATGTCTTGCTCACCATTGTATTCTCTACACCACACACAAAGGCTGGCACATAGTAAGCTC
|
GCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTTTATTACATTTGAAAAGATGTCCCGGCTGGGCACCATGACTCACGTAATCCCAGCAGGTTGGGAGGCCGAGGTGGGGTGGTCAGTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGACAGGCGCCTATAATCGTAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGACAGAAGTTGCAGTTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAATAAAAAAATAAAAATAAATAATTAAAAGATGTCCCTCAGGGTTCCTTCCTGACCCTCTTTTCTCCTCAAACTGACTCTTCATGGATGATCTCATTCTCTCATGACCTCTGTTACCAATCTAGATGCCCAAACTGACATTGGCAGTTCTAACCTCTTTCCTGAGCTCCAGGCTGCCTGATGTCCAGCAGGACATCTTCACAGGCCCCTCTAACGCAACAGCACAACTTCTGGAATCATTTCCTTTCACTCCTAGATTTCCTGTGGGTTCCCCTCCTCAGTGAACTGCACCAGGCCAAACAGCTGGGAGTCACCCTTGACTCCTTGTCTGTCTCCAGTGACCAGTCCAGGTATGTCTTGCTCACCATTGTATTCTCTACACCACACACAAAGGCTGGCACAT
|
benign
| 9,048 |
Evaluate this variant at chromosome 1, position 52375538, gene ORC1 (origin recognition complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Meier-Gorlin_syndrome_1']
|
CTCCAGAAGGCATCAGTTGGTGCCCCAGTGGTACACAAAATGCAGAGGCAGAATGGAATGCTAGCCTTGGAATCAGAAAACAGCAGGCCCGAATCCTGGTGCTACCATTTACCTAAATATGTAGACCTGGCCAAGTTACTGCACTCTTTTGAGCTTCAATTTTATCTATAAAATACACTGTACATCCCTTGTGAGTTAATGGATATAAAATGACTAGTAACTCTCACTGGTGATACAAATAGTCTTGTCTCCAGGGGCTGAGAGTTTCATAATTGAGACTGTCAAAATTCAAGTCAAATTTTGCTACAAGGCCACTTTCCTTATCAGGTACAGTGAGCAAATGCCAAGGCATGACCCTTGGAAAAGCACAAAGGCCTAGAGAGAAAATTGAATAAAGAAATAAAGGGAGGCAGGAGGATAGCTGGAAACATAGATTCCTACCCTAACGTTCTCTACTGGGTCAGCTAAATCTGGAGCATTTCTGGTCACTTTCCATTCTAAATATCTATGAGTCTATCCCCGTCCCAGCCCCAAGACTGGGAGTTTGTCAGGAACAGGGATGTTAACCAAATCAGCTTGGGGTTCAAGGATTCATCACAGTTAATGGCACACTGCAGATGTTCAGGAAATGTTTACAAACTAAAATGAAAGTCACTCTCTGCAGAAGAGCTATCTCAGACTCTAGGAGGAGAACAGTAATGGGCAAAACATGACGAGTAGCTAAAATTTTAAACAAGAATTTACAACCAACCCAATAAATAAGTAGCTGAAAGGAAAATGTTTTCCTGACTTATTTTAGTTAAATAAAGATGTCTAAAACATACATACACAAACATACACACTCTCAGGTACACACTCATAAACACCTTTAACAATTCATCTTCCAAGGCAGCCAATTACTAGAGTCTTAAGTAAACTAACAAAGCACATGCCCTACTGATCCCTCTCACTTGATCTAATTGAACTATGCCCATGCAGGGATTGGATTGATCTGTGATTTGTTCTCAAATATGGCCTCATTCTGAAAGCCTTGACTCCACTACAACATAAGCTGTAATCAGGGAGTAACTTTGTCTTGTTCCTCATTCTTTGAACAGTGTCTGGCACACAGGCCTTCAATCTAACATGCAGAAACCAGTCGCTAAAGGTCTCTTCTCATGCAGCTCTACAAAATGTCACATTAAAATAGGTGCCGGTCTGGTATTCTTTCACATACTCTAGGTGGCACAAAATAGAGTGTCACACATTCATGGAAATTTCCATGTATTTTAAAAGCGTAAGTCCAAAATCTAGAAGGATTTGAAAAGAGGAGGAGATCACCTGTTGAAACGTGGCTTCCTCCAGTCCTGATCGACGGAACTCTGCGAGGATGGCTCTCAGGAAGCTCTGTTCCAGAACAGAGGAATTTCTTAAAGGAAACGAGGGGATGTGAGTTTTTGTCAGTGGCTGTAACCCCAGCCCAGAGGAAAGCCAAAGAAAACTTTTCTGTGTCTTTAGAAAAGAGAAAACCCGGGAAATAATTTCTCCTATATTATGTGGCAAGGATCTCCCTGACCCCCAAACTCTCAAACTGATACAGAAAATGTCACTGTGGAAGTGAGGAAACATAGCAACTACATCCGGAAATACACTGGTCACTCATAAATACCTGTGCCCTCATTTCATGAGCTGAGCACATCAATCAGTGTGAGAGAAGCAGCTGCTTCCTTTTTTTTTTGTTCCTATCATAGCACTTTTATGCCCTAAACACCTATAATATAGCTCAATAAGTGGCAAATATTCTATTATCCTAGGGTTATATTTCTGTTTCCCTGACTAGATAATGTCCCTATGAAACATAACTGTGTTATTAATAAGTGCAGGTTGAATGAGTAAAAGCTTAGAAAGGGAAACATGTTTCTACAGCCTTCCAGGAAGGCTCAGGAAGTGGAGCATCTTACTTGATGGCCGTGATGTATGATGATGAAAACATCTCATCCACAGCTTCCATTGAGTGGGCTATGGTGACCAGGCCAGGGGAGTCAGGCTTCTGCTGGGAGAACTCACAGATCTCTGTGGCACGCCTGCAGATGTCCAGGCACCGTCGTGCATCTCCAGACAGTGCTGCTACCTACAAGAGGGAATATTTTATTCCTGAGGCCACCTTAGCCCAGAAGAACCAAGAGATTCTTGGTAGTGCTGGCAATGGACATAAGCGTAAAGTTAAGTACTTAGCCCTGGCAGGGAACCTGGAGGAAGAATAGAAATGAATTATTACATTGTGCATGGGACTCTAATCCTCTAGTCCAAACCTCTGTCTTGGTTTTACAGTTAACTCCACAGTGGACAACACAGAAATTCTCAGCTTTACTATTCAGGAAATGAAGTCTAAAATCAGAGACGCTTGGTTCAAGATCACTATTGAAGCATCTGCAAACAGAGTTCTCACTCCTTGCATAGAGACAGACGTGTGCCCCCAGAAGCAGCCAGCCAAAGACAAGAGGGTGAGGTGGAGCCTATCTGGAGATAAAGCCATAGCCAGGCACCCCTTACAGCACGTGGTGAATTTGGGGTCGGCTTGGTCAATGGCTAAGAGGACCAGAATCAAGAATGTAGGAAGGGGCTGGACGCGGTGGCTCACACCTATAATCCCAGAACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCAGGGTCTGGGGCGCGGTGGGTCACACCTGTAATCCTAGCACTTTGGGAGGCCCAGGCAGGTGGATCACTTGAGGTCAGAAGTTTAAGACCAGCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCACATGCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGTCTAGAGTCCATCTAAAAAAAAAAATCACTTTCCAAGTAACCCAGGACACAAACATGACTATCGGCTTACATTTTTCCCTTCCTCTAATCCCCAGTATTGAACTGGTAAGGGTGTCCTGTAGCCCTTCCTGCTTCGTCAGTTCTCCTCCCCTCCCATTACCACCTGTACAGCCTGGTGAAGAGGCACTTTGTGTGGTGAATAGCAGGGACTCAAGGGCCTCAAGACAAAGTGAAAGGGGAACTCTGGGGGGTAAGGAAACACCTAAACCAGTCTGACCCCAAGGGTATCAGTGACACTTGGCAACCCTATGCATCCCTTCGGGCTGCTGCTGGGACAAGGGAGACACAAGAAGAAGCTAAGGCCCAGCCAACATGGAACCTAACAGGACATCCTGCAGGCACCTGAAACTTGACCTCCACTTCAGCCTCAGTACAGGGTGAGTGAGACCCATCACGCAGAACGGATGGCAGGAAAAACGGCCTACTTGACCTTGGTGCTAGGTGGATGTGGGCACACACAAAAAACTTGGGTTTTATTTATTTATTTATTTTTGAGACAGAGTTTCACTCTTGATGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTTACTGCAACCTCCACCTGTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTAAAGGCATCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCCCAGCCGACTTTTTGTTGGTTTTTTTGTTTGAGAGAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGACTCACTGCAGCCTCCACCTCCTCGGCTCAAGCAATCCTCCCACCTCAGCTTCCCAAGTAGCTGGGACTACAGGCACATGCCATCGCATTGGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTTTTAATATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCTCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCCTACCCAGACACTCTCGAGTT
|
CTCCAGAAGGCATCAGTTGGTGCCCCAGTGGTACACAAAATGCAGAGGCAGAATGGAATGCTAGCCTTGGAATCAGAAAACAGCAGGCCCGAATCCTGGTGCTACCATTTACCTAAATATGTAGACCTGGCCAAGTTACTGCACTCTTTTGAGCTTCAATTTTATCTATAAAATACACTGTACATCCCTTGTGAGTTAATGGATATAAAATGACTAGTAACTCTCACTGGTGATACAAATAGTCTTGTCTCCAGGGGCTGAGAGTTTCATAATTGAGACTGTCAAAATTCAAGTCAAATTTTGCTACAAGGCCACTTTCCTTATCAGGTACAGTGAGCAAATGCCAAGGCATGACCCTTGGAAAAGCACAAAGGCCTAGAGAGAAAATTGAATAAAGAAATAAAGGGAGGCAGGAGGATAGCTGGAAACATAGATTCCTACCCTAACGTTCTCTACTGGGTCAGCTAAATCTGGAGCATTTCTGGTCACTTTCCATTCTAAATATCTATGAGTCTATCCCCGTCCCAGCCCCAAGACTGGGAGTTTGTCAGGAACAGGGATGTTAACCAAATCAGCTTGGGGTTCAAGGATTCATCACAGTTAATGGCACACTGCAGATGTTCAGGAAATGTTTACAAACTAAAATGAAAGTCACTCTCTGCAGAAGAGCTATCTCAGACTCTAGGAGGAGAACAGTAATGGGCAAAACATGACGAGTAGCTAAAATTTTAAACAAGAATTTACAACCAACCCAATAAATAAGTAGCTGAAAGGAAAATGTTTTCCTGACTTATTTTAGTTAAATAAAGATGTCTAAAACATACATACACAAACATACACACTCTCAGGTACACACTCATAAACACCTTTAACAATTCATCTTCCAAGGCAGCCAATTACTAGAGTCTTAAGTAAACTAACAAAGCACATGCCCTACTGATCCCTCTCACTTGATCTAATTGAACTATGCCCATGCAGGGATTGGATTGATCTGTGATTTGTTCTCAAATATGGCCTCATTCTGAAAGCCTTGACTCCACTACAACATAAGCTGTAATCAGGGAGTAACTTTGTCTTGTTCCTCATTCTTTGAACAGTGTCTGGCACACAGGCCTTCAATCTAACATGCAGAAACCAGTCGCTAAAGGTCTCTTCTCATGCAGCTCTACAAAATGTCACATTAAAATAGGTGCCGGTCTGGTATTCTTTCACATACTCTAGGTGGCACAAAATAGAGTGTCACACATTCATGGAAATTTCCATGTATTTTAAAAGCGTAAGTCCAAAATCTAGAAGGATTTGAAAAGAGGAGGAGATCACCTGTTGAAACGTGGCTTCCTCCAGTCCTGATCGACGGAACTCTGCGAGGATGGCTCTCAGGAAGCTCTGTTCCAGAACAGAGGAATTTCTTAAAGGAAACGAGGGGATGTGAGTTTTTGTCAGTGGCTGTAACCCCAGCCCAGAGGAAAGCCAAAGAAAACTTTTCTGTGTCTTTAGAAAAGAGAAAACCCGGGAAATAATTTCTCCTATATTATGTGGCAAGGATCTCCCTGACCCCCAAACTCTCAAACTGATACAGAAAATGTCACTGTGGAAGTGAGGAAACATAGCAACTACATCCGGAAATACACTGGTCACTCATAAATACCTGTGCCCTCATTTCATGAGCTGAGCACATCAATCAGTGTGAGAGAAGCAGCTGCTTCCTTTTTTTTTTGTTCCTATCATAGCACTTTTATGCCCTAAACACCTATAATATAGCTCAATAAGTGGCAAATATTCTATTATCCTAGGGTTATATTTCTGTTTCCCTGACTAGATAATGTCCCTATGAAACATAACTGTGTTATTAATAAGTGCAGGTTGAATGAGTAAAAGCTTAGAAAGGGAAACATGTTTCTACAGCCTTCCAGGAAGGCTCAGGAAGTGGAGCATCTTACTTGATGGCCGTGATGTATGATGATGAAAACATCTCATCCACAGCTTCCATTGAGTGGGCTATGGTGACCAGGCCAGGGGAGTCAGGCTTCTGCTGGGAGAACTCACAGATCTGTGGCACGCCTGCAGATGTCCAGGCACCGTCGTGCATCTCCAGACAGTGCTGCTACCTACAAGAGGGAATATTTTATTCCTGAGGCCACCTTAGCCCAGAAGAACCAAGAGATTCTTGGTAGTGCTGGCAATGGACATAAGCGTAAAGTTAAGTACTTAGCCCTGGCAGGGAACCTGGAGGAAGAATAGAAATGAATTATTACATTGTGCATGGGACTCTAATCCTCTAGTCCAAACCTCTGTCTTGGTTTTACAGTTAACTCCACAGTGGACAACACAGAAATTCTCAGCTTTACTATTCAGGAAATGAAGTCTAAAATCAGAGACGCTTGGTTCAAGATCACTATTGAAGCATCTGCAAACAGAGTTCTCACTCCTTGCATAGAGACAGACGTGTGCCCCCAGAAGCAGCCAGCCAAAGACAAGAGGGTGAGGTGGAGCCTATCTGGAGATAAAGCCATAGCCAGGCACCCCTTACAGCACGTGGTGAATTTGGGGTCGGCTTGGTCAATGGCTAAGAGGACCAGAATCAAGAATGTAGGAAGGGGCTGGACGCGGTGGCTCACACCTATAATCCCAGAACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCAGGGTCTGGGGCGCGGTGGGTCACACCTGTAATCCTAGCACTTTGGGAGGCCCAGGCAGGTGGATCACTTGAGGTCAGAAGTTTAAGACCAGCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCACATGCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGTCTAGAGTCCATCTAAAAAAAAAAATCACTTTCCAAGTAACCCAGGACACAAACATGACTATCGGCTTACATTTTTCCCTTCCTCTAATCCCCAGTATTGAACTGGTAAGGGTGTCCTGTAGCCCTTCCTGCTTCGTCAGTTCTCCTCCCCTCCCATTACCACCTGTACAGCCTGGTGAAGAGGCACTTTGTGTGGTGAATAGCAGGGACTCAAGGGCCTCAAGACAAAGTGAAAGGGGAACTCTGGGGGGTAAGGAAACACCTAAACCAGTCTGACCCCAAGGGTATCAGTGACACTTGGCAACCCTATGCATCCCTTCGGGCTGCTGCTGGGACAAGGGAGACACAAGAAGAAGCTAAGGCCCAGCCAACATGGAACCTAACAGGACATCCTGCAGGCACCTGAAACTTGACCTCCACTTCAGCCTCAGTACAGGGTGAGTGAGACCCATCACGCAGAACGGATGGCAGGAAAAACGGCCTACTTGACCTTGGTGCTAGGTGGATGTGGGCACACACAAAAAACTTGGGTTTTATTTATTTATTTATTTTTGAGACAGAGTTTCACTCTTGATGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTTACTGCAACCTCCACCTGTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTAAAGGCATCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCCCAGCCGACTTTTTGTTGGTTTTTTTGTTTGAGAGAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGACTCACTGCAGCCTCCACCTCCTCGGCTCAAGCAATCCTCCCACCTCAGCTTCCCAAGTAGCTGGGACTACAGGCACATGCCATCGCATTGGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTTTTAATATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCTCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCCTACCCAGACACTCTCGAGTTNN
|
pathogenic
| 9,215 |
Variant at chromosome position 53196971, chromosome 1, gene CPT2: benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TATTAGCTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTT
|
TATTAGCTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTAGCAAGGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCA
|
pathogenic
| 9,299 |
Evaluate the clinical significance of the mutation at chromosome 1, position 53196977 in gene CPT2: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']
|
CTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTA
|
CTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTAN
|
pathogenic
| 9,300 |
A genetic variant on chromosome 1, position 53197001, affects the gene CPT2. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
ATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACT
|
ATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCAC
|
pathogenic
| 9,301 |
Evaluate this variant at chromosome 1, position 53197017, gene CPT2: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
AATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTT
|
AATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTN
|
pathogenic
| 9,302 |
Is the genetic mutation found on chromosome 1 at position 53197040, within the gene CPT2, considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
GGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAG
|
GGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGN
|
pathogenic
| 9,303 |
Evaluate the clinical significance of the mutation at chromosome 1, position 53197050 in gene CPT2: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4', 'Inborn_genetic_diseases']
|
AAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGTCTCGCTCTG
|
AAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGTCTCGCTC
|
pathogenic
| 9,306 |
A genetic variant at chromosome 1, position 53200774, affecting gene CPT2 (carnitine palmitoyltransferase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
ACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCTATCTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAAGGATCCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGACCTCAAGTGATCTGCTCTTGGCCTCCCATCTGGGACCACAGGCATGCACCATCATGCCTGGCTGATTTTTTGTATCTTTTATAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCGAGCAATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGTGCCCAGCTTCACTCCAGAAATTTTTAAGTAGGACTTTTTTAAATCAAATTGCCATTGTCTCTAATCTAGAATTTTGTTTAAAAGGAAGAAGGTAAACTTTCATGAATATTCCTACTGTAATAAAACTAAATCTTAAACATATGTAGGCAACTGGAATTATGAGGTAGCTGAGATAGTATTTGGAATTTTTCTGAGTAAGTCAGTGAATGTAAGGGGATCTGTGGTGTTAAAGTGTTGTAAATGGGTACTTAGTGCAGTCTAAGTCCATAATGGCAGTAAATAATTGATTTATTTTTGTCATATTATGGATAAACATGCATTACAAATAAACTGATGAACCACAGTATATCTTATATTAGGCTTTTAAACTGCTTTATGTATCATGTTTCAGTTTTCCTAAATGACTGATACATTTCAGTATTTTGCATATCAGTGTTAATTTTGAGTTGGTAGAGGCAGCCTAACAAACTCTGATTGTTTTGCTATTAGGGGATATTTCCTTCAATAAAACCAATGAATTGAAAGAGAAAATACACCTCACTTTACTGTCCATGTGTTTTCATTTCACAATAAGCCAGTAACTTCATCACCATAGCCATCTTTGGGAATCACTAGTAGACAGAATGATAAGTAGGCAAATTGCTGTTCCTGTTATTTAAGCACAGGGACTATTTGGTTCTTCCTAATGGCGTTCCTGGTATCTGGGCATGGCTCACTGGTCGATTCCTACCTTTTAGTGACTGTAGCCCCCATATATGGCTGGCCCTTGGACAGATCTGTGTTTCACTCTTATATAATTATTTGTTGTAAAATGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGC
|
ACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCTATCTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAAGGATCCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGACCTCAAGTGATCTGCTCTTGGCCTCCCATCTGGGACCACAGGCATGCACCATCATGCCTGGCTGATTTTTTGTATCTTTTATAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCGAGCAATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGTGCCCAGCTTCACTCCAGAAATTTTTAAGTAGGACTTTTTTAAATCAAATTGCCATTGTCTCTAATCTAGAATTTTGTTTAAAAGGAAGAAGGTAAACTTTCATGAATATTCCTACTGTAATAAAACTAAATCTTAAACATATGTAGGCAACTGGAATTATGAGGTAGCTGAGATAGTATTTGGAATTTTTCTGAGTAAGTCAGTGAATGTAAGGGGATCTGTGGTGTTAAAGTGTTGTAAATGGGTACTTAGTGCAGTCTAAGTCCATAATGGCAGTAAATAATTGATTTATTTTTGTCATATTATGGATAAACATGCATTACAAATAAACTGATGAACCACAGTATATCTTATATTAGGCTTTTAAACTGCTTTATGTATCATGTTTCAGTTTTCCTAAATGACTGATACATTTCAGTATTTTGCATATCAGTGTTAATTTTGAGTTGGTAGAGGCAGCCTAACAAACTCTGATTGTTTTGCTATTAGGGGATATTTCCTTCAATAAAACCAATGAATTGAAAGAGAAAATACACCTCACTTTACTGTCCATGTGTTTTCATTTCACAATAAGCCAGTAACTTCATCACCATAGCCATCTTTGGGAATCACTAGTAGACAGAATGATAAGTAGGCAAATTGCTGTTCCTGTTATTTAAGCACAGGGACTATTTGGTTCTTCCTAATGGCGTTCCTGGTATCTGGGCATGGCTCACTGGTCGATTCCTACCTTTTAGTGACTGTAGCCCCCATATATGGCTGGCCCTTGGACAGATCTGTGTTTCACTCTTATATAATTATTTGTTGTAAAATGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCNN
|
pathogenic
| 9,313 |
Does the variant on chromosome 1 at location 53202342 affecting gene CPT2 (carnitine palmitoyltransferase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCTCCCTGAACCCTTAGTCTTTCATTCTTTTGTGCCTTTATCCATGCTGTTCCCACTACCATTTTTTTGCCTGGCAAATTCTTCTTTTAAGATCCAAGGAGGATGGTTTTCTGTGAAACCTTCTCAGTCCTTTTTCCTTTCCATTCAGAGTTGGTTGCTTCCACCTCTGTTCCTACAGCACTTCTTTTAATTTAGTTTATATATTTACCAAGGTTATACATGCATATAGTTTAAAGAATCAGACAGTTCTATAAGGCTTGTTAGGAAAAACAGCAACTTCCTCATCATCTTATTTCCCACTTCTCACTTTCAGCTCCTAAATCTTTTGTTATATACCCCCGTATCTCTAAATTAGATACTTACCTTACTGCATCTTGATTTTTTTGCTTTAGTCATTAGCTATTGACATCTCACTGTAGAAGATTAGAATTCAGCAGTACTTTACATCCCACCACATATGTGGGATGTGTATACACATACTTCCTATCCCCTTATTTTCACAGCATAGGGATTTGTAATTTTGGGTAACTCAGTATCTAGTTTTATGCTATTATGATCATAGAAACACTATTGTCAGCTGACTCATGTAGCATATTGGGATTGTTTTTCCTTTCCAGTACAAACTTTTTGTTTTCTCTGAAGTTAATAATTGTTCCATCTTTTCTCTTGTTTAGTTTTCTATGTGCTTACTAATTTACCCCCAGACTCTTCCCAAGCTGTCTGAATCTCCTCTCAATACATGAAAGCAGATTGGACATTCTATCCCTTTTGGTCTTCTTGACGAAACTTCTTCCAGAACTTGCGACATGCTGTAGTCTGGATTTGTGAACCTCTTGGCCTACTGTGAAGCTGCTCTCCTGTGCTCTTTCACCATCAGCTGGGGCATCTGTCATCTCTCTCTCATGTTGGGACTCGTGTTTCTTGTCTTTCATATTTTCTTATTTCTTGGCTTTTTCTTTTTCTTTTTTTTTTTTTTTAAATCAGAGCACATATTCCCTGTACTATCTGGAAACAGAATATGGGAAGCAAAAATTTTAAAATGGCCCTTATACTTCATTGATAATTTGTTTGGCTGGGTTTGAAATTATTTTCCCACAGAATTTTGGAGGCTTTGCTCCATTGTCTTTTAGCATCCAGTGTTGCTGTTGGTAAATCTAATGTTATTCTGAGACTTAATCTTTTGACTACTTCTTCTCTCTGCCTTTGGAAGCTTTTTAGAATTTTCTCTTTGTCCCCAGTGTTTTGAAATTTCAGGTAATGTGTTTTAGTATGTGTTGGGCCACTCTGTGAGTCCTTTGAATCTGGAATCTCATCCTTCAGGTCTGGGATATTTCCTTGTTTTATTTCTTTGGCTTTCTTCCTCTCCATTTTTTTTCTCTGTTTTTTCTTTGTGGAACTCTATTATTATTCAGGTGTAGAATTTCTGGGTCTCATCCTCTAATTTTCTTTTCTCTCACATTTTTCATCTCTTACTCTTTTTGTTACATTTTCTTGGGAGACTTACTTAATTTTAATCTCTCAACCTGTTTTTAAAACTCCTGCTTTCCTATTTTTTACTTCCACAAGCTCT
|
TGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCTCCCTGAACCCTTAGTCTTTCATTCTTTTGTGCCTTTATCCATGCTGTTCCCACTACCATTTTTTTGCCTGGCAAATTCTTCTTTTAAGATCCAAGGAGGATGGTTTTCTGTGAAACCTTCTCAGTCCTTTTTCCTTTCCATTCAGAGTTGGTTGCTTCCACCTCTGTTCCTACAGCACTTCTTTTAATTTAGTTTATATATTTACCAAGGTTATACATGCATATAGTTTAAAGAATCAGACAGTTCTATAAGGCTTGTTAGGAAAAACAGCAACTTCCTCATCATCTTATTTCCCACTTCTCACTTTCAGCTCCTAAATCTTTTGTTATATACCCCCGTATCTCTAAATTAGATACTTACCTTACTGCATCTTGATTTTTTTGCTTTAGTCATTAGCTATTGACATCTCACTGTAGAAGATTAGAATTCAGCAGTACTTTACATCCCACCACATATGTGGGATGTGTATACACATACTTCCTATCCCCTTATTTTCACAGCATAGGGATTTGTAATTTTGGGTAACTCAGTATCTAGTTTTATGCTATTATGATCATAGAAACACTATTGTCAGCTGACTCATGTAGCATATTGGGATTGTTTTTCCTTTCCAGTACAAACTTTTTGTTTTCTCTGAAGTTAATAATTGTTCCATCTTTTCTCTTGTTTAGTTTTCTATGTGCTTACTAATTTACCCCCAGACTCTTCCCAAGCTGTCTGAATCTCCTCTCAATACATGAAAGCAGATTGGACATTCTATCCCTTTTGGTCTTCTTGACGAAACTTCTTCCAGAACTTGCGACATGCTGTAGTCTGGATTTGTGAACCTCTTGGCCTACTGTGAAGCTGCTCTCCTGTGCTCTTTCACCATCAGCTGGGGCATCTGTCATCTCTCTCTCATGTTGGGACTCGTGTTTCTTGTCTTTCATATTTTCTTATTTCTTGGCTTTTTCTTTTTCTTTTTTTTTTTTTTTAAATCAGAGCACATATTCCCTGTACTATCTGGAAACAGAATATGGGAAGCAAAAATTTTAAAATGGCCCTTATACTTCATTGATAATTTGTTTGGCTGGGTTTGAAATTATTTTCCCACAGAATTTTGGAGGCTTTGCTCCATTGTCTTTTAGCATCCAGTGTTGCTGTTGGTAAATCTAATGTTATTCTGAGACTTAATCTTTTGACTACTTCTTCTCTCTGCCTTTGGAAGCTTTTTAGAATTTTCTCTTTGTCCCCAGTGTTTTGAAATTTCAGGTAATGTGTTTTAGTATGTGTTGGGCCACTCTGTGAGTCCTTTGAATCTGGAATCTCATCCTTCAGGTCTGGGATATTTCCTTGTTTTATTTCTTTGGCTTTCTTCCTCTCCATTTTTTTTCTCTGTTTTTTCTTTGTGGAACTCTATTATTATTCAGGTGTAGAATTTCTGGGTCTCATCCTCTAATTTTCTTTTCTCTCACATTTTTCATCTCTTACTCTTTTTGTTACATTTTCTTGGGAGACTTACTTAATTTTAATCTCTCAACCTGTTTTTAAAACTCCTGCTTTCCTATTTTTTACTTCCACAAGCTCTNN
|
pathogenic
| 9,315 |
Evaluate this variant at chromosome 1, position 53202345, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
AGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCTCCCTGAACCCTTAGTCTTTCATTCTTTTGTGCCTTTATCCATGCTGTTCCCACTACCATTTTTTTGCCTGGCAAATTCTTCTTTTAAGATCCAAGGAGGATGGTTTTCTGTGAAACCTTCTCAGTCCTTTTTCCTTTCCATTCAGAGTTGGTTGCTTCCACCTCTGTTCCTACAGCACTTCTTTTAATTTAGTTTATATATTTACCAAGGTTATACATGCATATAGTTTAAAGAATCAGACAGTTCTATAAGGCTTGTTAGGAAAAACAGCAACTTCCTCATCATCTTATTTCCCACTTCTCACTTTCAGCTCCTAAATCTTTTGTTATATACCCCCGTATCTCTAAATTAGATACTTACCTTACTGCATCTTGATTTTTTTGCTTTAGTCATTAGCTATTGACATCTCACTGTAGAAGATTAGAATTCAGCAGTACTTTACATCCCACCACATATGTGGGATGTGTATACACATACTTCCTATCCCCTTATTTTCACAGCATAGGGATTTGTAATTTTGGGTAACTCAGTATCTAGTTTTATGCTATTATGATCATAGAAACACTATTGTCAGCTGACTCATGTAGCATATTGGGATTGTTTTTCCTTTCCAGTACAAACTTTTTGTTTTCTCTGAAGTTAATAATTGTTCCATCTTTTCTCTTGTTTAGTTTTCTATGTGCTTACTAATTTACCCCCAGACTCTTCCCAAGCTGTCTGAATCTCCTCTCAATACATGAAAGCAGATTGGACATTCTATCCCTTTTGGTCTTCTTGACGAAACTTCTTCCAGAACTTGCGACATGCTGTAGTCTGGATTTGTGAACCTCTTGGCCTACTGTGAAGCTGCTCTCCTGTGCTCTTTCACCATCAGCTGGGGCATCTGTCATCTCTCTCTCATGTTGGGACTCGTGTTTCTTGTCTTTCATATTTTCTTATTTCTTGGCTTTTTCTTTTTCTTTTTTTTTTTTTTTAAATCAGAGCACATATTCCCTGTACTATCTGGAAACAGAATATGGGAAGCAAAAATTTTAAAATGGCCCTTATACTTCATTGATAATTTGTTTGGCTGGGTTTGAAATTATTTTCCCACAGAATTTTGGAGGCTTTGCTCCATTGTCTTTTAGCATCCAGTGTTGCTGTTGGTAAATCTAATGTTATTCTGAGACTTAATCTTTTGACTACTTCTTCTCTCTGCCTTTGGAAGCTTTTTAGAATTTTCTCTTTGTCCCCAGTGTTTTGAAATTTCAGGTAATGTGTTTTAGTATGTGTTGGGCCACTCTGTGAGTCCTTTGAATCTGGAATCTCATCCTTCAGGTCTGGGATATTTCCTTGTTTTATTTCTTTGGCTTTCTTCCTCTCCATTTTTTTTCTCTGTTTTTTCTTTGTGGAACTCTATTATTATTCAGGTGTAGAATTTCTGGGTCTCATCCTCTAATTTTCTTTTCTCTCACATTTTTCATCTCTTACTCTTTTTGTTACATTTTCTTGGGAGACTTACTTAATTTTAATCTCTCAACCTGTTTTTAAAACTCCTGCTTTCCTATTTTTTACTTCCACAAGCTCTTTT
|
AGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGATTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCTCCCTGAACCCTTAGTCTTTCATTCTTTTGTGCCTTTATCCATGCTGTTCCCACTACCATTTTTTTGCCTGGCAAATTCTTCTTTTAAGATCCAAGGAGGATGGTTTTCTGTGAAACCTTCTCAGTCCTTTTTCCTTTCCATTCAGAGTTGGTTGCTTCCACCTCTGTTCCTACAGCACTTCTTTTAATTTAGTTTATATATTTACCAAGGTTATACATGCATATAGTTTAAAGAATCAGACAGTTCTATAAGGCTTGTTAGGAAAAACAGCAACTTCCTCATCATCTTATTTCCCACTTCTCACTTTCAGCTCCTAAATCTTTTGTTATATACCCCCGTATCTCTAAATTAGATACTTACCTTACTGCATCTTGATTTTTTTGCTTTAGTCATTAGCTATTGACATCTCACTGTAGAAGATTAGAATTCAGCAGTACTTTACATCCCACCACATATGTGGGATGTGTATACACATACTTCCTATCCCCTTATTTTCACAGCATAGGGATTTGTAATTTTGGGTAACTCAGTATCTAGTTTTATGCTATTATGATCATAGAAACACTATTGTCAGCTGACTCATGTAGCATATTGGGATTGTTTTTCCTTTCCAGTACAAACTTTTTGTTTTCTCTGAAGTTAATAATTGTTCCATCTTTTCTCTTGTTTAGTTTTCTATGTGCTTACTAATTTACCCCCAGACTCTTCCCAAGCTGTCTGAATCTCCTCTCAATACATGAAAGCAGATTGGACATTCTATCCCTTTTGGTCTTCTTGACGAAACTTCTTCCAGAACTTGCGACATGCTGTAGTCTGGATTTGTGAACCTCTTGGCCTACTGTGAAGCTGCTCTCCTGTGCTCTTTCACCATCAGCTGGGGCATCTGTCATCTCTCTCTCATGTTGGGACTCGTGTTTCTTGTCTTTCATATTTTCTTATTTCTTGGCTTTTTCTTTTTCTTTTTTTTTTTTTTTAAATCAGAGCACATATTCCCTGTACTATCTGGAAACAGAATATGGGAAGCAAAAATTTTAAAATGGCCCTTATACTTCATTGATAATTTGTTTGGCTGGGTTTGAAATTATTTTCCCACAGAATTTTGGAGGCTTTGCTCCATTGTCTTTTAGCATCCAGTGTTGCTGTTGGTAAATCTAATGTTATTCTGAGACTTAATCTTTTGACTACTTCTTCTCTCTGCCTTTGGAAGCTTTTTAGAATTTTCTCTTTGTCCCCAGTGTTTTGAAATTTCAGGTAATGTGTTTTAGTATGTGTTGGGCCACTCTGTGAGTCCTTTGAATCTGGAATCTCATCCTTCAGGTCTGGGATATTTCCTTGTTTTATTTCTTTGGCTTTCTTCCTCTCCATTTTTTTTCTCTGTTTTTTCTTTGTGGAACTCTATTATTATTCAGGTGTAGAATTTCTGGGTCTCATCCTCTAATTTTCTTTTCTCTCACATTTTTCATCTCTTACTCTTTTTGTTACATTTTCTTGGGAGACTTACTTAATTTTAATCTCTCAACCTGTTTTTAAAACTCCTGCTTTCCTATTTTTTACTTCCACAAGCTCTTTTN
|
pathogenic
| 9,316 |
Mutation at chromosome 1, position 53210022, within CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
GCTTTAGTCATTACCAGTTGCATAAGTGCTTTCCAGCTTCCAGTATTTGTTTTCTCGTCTCCCATTCTCTTGGCCTGACTGGTTTATGTCTCTTTGAAATTCTTTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATT
|
GCTTTAGTCATTACCAGTTGCATAAGTGCTTTCCAGCTTCCAGTATTTGTTTTCTCGTCTCCCATTCTCTTGGCCTGACTGGTTTATGTCTCTTTGAAATTCTTTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTNNNNN
|
pathogenic
| 9,328 |
Does the chromosome 1 mutation at position 53210300 within gene CPT2 (carnitine palmitoyltransferase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
GGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAG
|
GGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCG
|
pathogenic
| 9,342 |
The genetic variant at chromosome 1, position 53210342, affecting gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
GAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATG
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GAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGN
|
pathogenic
| 9,344 |
Chromosome 1, position 53210396, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCT
|
TCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTNN
|
pathogenic
| 9,346 |
The mutation in gene CPT2 (carnitine palmitoyltransferase 2) at chromosome 1, position 53210420—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACT
|
TATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTNN
|
pathogenic
| 9,347 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 53210521, gene CPT2 (carnitine palmitoyltransferase 2): what disease(s) if pathogenic?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
GAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCAC
|
GAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACN
|
pathogenic
| 9,348 |
Variant at chromosome position 53210569, chromosome 1, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
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pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
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GTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATC
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GTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTA
|
pathogenic
| 9,352 |
Evaluate if the mutation on chromosome 1 at position 53210645 in CPT2 (carnitine palmitoyltransferase 2) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGG
|
TAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGNN
|
pathogenic
| 9,353 |
The genetic variant at chromosome 1, position 53210661, affecting gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
ACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTC
|
ACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTT
|
pathogenic
| 9,354 |
Considering the genetic mutation at chromosome 1, position 53210695, impacting CPT2 (carnitine palmitoyltransferase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
ATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACC
|
ATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACTTGTGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCN
|
pathogenic
| 9,355 |
Is the variant located on chromosome 1 at position 53210717, gene CPT2 (carnitine palmitoyltransferase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
GAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTC
|
GAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCT
|
pathogenic
| 9,356 |
Variant on chromosome 1, at position 53210816, affecting CPT2 (carnitine palmitoyltransferase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
AAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCA
|
AAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCANN
|
pathogenic
| 9,361 |
Variant on chromosome 1, at position 53210894, affecting CPT2 (carnitine palmitoyltransferase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency']
|
TTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGC
|
TTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCNN
|
pathogenic
| 9,363 |
A genetic alteration at chromosome 1, position 53210911, in gene CPT2 (carnitine palmitoyltransferase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTC
|
TCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCNN
|
pathogenic
| 9,364 |
Variant in gene CPT2 (carnitine palmitoyltransferase 2), located at chromosome 1 position 53210946: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
AGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAA
|
AGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAANN
|
pathogenic
| 9,366 |
Is the genetic change at chromosome 1, position 53210994, within gene CPT2 (carnitine palmitoyltransferase 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
CAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCT
|
CAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTNNNN
|
pathogenic
| 9,368 |
Determine whether the variant at chromosome 1, position 53210997, in gene CPT2 (carnitine palmitoyltransferase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
CCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATT
|
CCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCAACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTAT
|
pathogenic
| 9,369 |
Variant in CPT2 (carnitine palmitoyltransferase 2), chromosome 1, position 53211019—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']
|
AGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAAT
|
AGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTTAAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAA
|
pathogenic
| 9,372 |
Mutation found at chromosome 1 position 53211030, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']
|
GGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAA
|
GGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAANNNN
|
pathogenic
| 9,374 |
Benign or pathogenic: chromosome 1, position 53211114, gene CPT2 (carnitine palmitoyltransferase 2) variant? Disease(s) if pathogenic?
|
pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
CATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTC
|
CATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCNNNN
|
pathogenic
| 9,379 |
Variant chromosome 1, position 53211119, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease(s)?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGA
|
TTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGANN
|
pathogenic
| 9,380 |
For chromosome 1, position 53211218, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
GAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGC
|
GAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCNNNN
|
pathogenic
| 9,388 |
Does the variant on chromosome 1 at location 53211240 affecting gene CPT2 (carnitine palmitoyltransferase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
CTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGT
|
CTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTNN
|
pathogenic
| 9,390 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 53211280, gene CPT2 (carnitine palmitoyltransferase 2): what disease(s) if pathogenic?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
CATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTT
|
CATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCT
|
pathogenic
| 9,392 |
Determine if the mutation at chromosome 1, position 53213283 in gene CPT2 (carnitine palmitoyltransferase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGA
|
TCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGANN
|
pathogenic
| 9,396 |
Clinical classification of chromosome 1, position 53213384, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']
|
GAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCT
|
GAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTN
|
pathogenic
| 9,400 |
Variant in gene CPT2 (carnitine palmitoyltransferase 2), located at chromosome 1 position 53213391: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']
|
CCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAA
|
CCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACAGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAANN
|
pathogenic
| 9,402 |
Does the chromosome 1 mutation at position 53213399 within gene CPT2 (carnitine palmitoyltransferase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGA
|
TCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAN
|
pathogenic
| 9,404 |
Variant in CPT2 (carnitine palmitoyltransferase 2), chromosome 1, position 53213421—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
AGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGG
|
AGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGN
|
pathogenic
| 9,405 |
Mutation found at chromosome 1 position 53213433, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
TCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAG
|
TCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGNN
|
pathogenic
| 9,407 |
Classify the chromosome 1 variant at position 53213545 affecting gene CPT2 (carnitine palmitoyltransferase 2) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
GATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGGCTTTTCTATCTGCAGGGTAGTAATATGTCCAGTAATACAGACTATTTCTTGTTCTTCATGGTAGTTAGGTGCAGTAAAGCCACCACAAACACTGAATTAGGGAATACTGAA
|
GATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGGCTTTTCTATCTGCAGGGTAGTAATATGTCCAGTAATACAGACTATTTCTTGTTCTTCATGGTAGTTAGGTGCAGTAAAGCCACCACAAACACTGAATTAGGGAATACTGAAN
|
pathogenic
| 9,412 |
Evaluate this variant at chromosome 1, position 53213549, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']
|
AGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGGCTTTTCTATCTGCAGGGTAGTAATATGTCCAGTAATACAGACTATTTCTTGTTCTTCATGGTAGTTAGGTGCAGTAAAGCCACCACAAACACTGAATTAGGGAATACTGAATGAA
|
AGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGGCTTTTCTATCTGCAGGGTAGTAATATGTCCAGTAATACAGACTATTTCTTGTTCTTCATGGTAGTTAGGTGCAGTAAAGCCACCACAAACACTGAATTAGGGAATACTGAATGA
|
pathogenic
| 9,413 |
Benign or pathogenic: chromosome 1, position 54999342, gene BSND (barttin CLCNK type accessory subunit beta) variant? Disease(s) if pathogenic?
|
pathogenic; ['Bartter_disease_type_4A']
|
TCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTCCTGCCCCTCAGCCATCGCTCAGCCAGGGCCCCTGAGCTCCCTCCAGGACCTCCTCTGCGAACTGTCAAGTGCACCTGGACTCTGAGGGCTGGCGATGGTGGGTGTGAGGAAGGAGAAACCCCTGTTGGAAAAAGGGCCTATGAGAAGGACGTCTAGTTAGAGGGGCAGCTGTGAGCACAGGTGTGGGGTTAGGGAACAAGGGCAGCCCTGCTGGCAGGAGGGGAGAAGGTGATGACCGCCAACAGGAAATCCCCAAGCCCAGCAAGTCAGGGAGCCCATTGAAAGCCTTTTATCCTGCATCGGCGATTTAACCCCATGTAAACGCCAAGTGAACATTCTCTTGTAGAGACCGATGGTCCTCATTTTCCTGTAATCCTGTAAAGGAATCTGATTTCTTCCATCAGCCTGTCCCTAGGACTAAAATGCCTCATTAGTGTTATTCTTAGGAAGGCATCTTCCTAGATCAGGCTGCAAGGAAATGGAGGAAGTGACTGTCAGTCACTCACACCCTGCAGGGGCACTAATTCCGAGAGCCTTAGGGGTGGGTGGGGAGCAGTTCATTGAAAGCCCAACTGGGTGGTGCATAGCGTGTGAATGTGAAGGGGATGGAGGAACCCAAGGAGGCCAGGCCTGGAGACAGCACCAAATCTGGGAGGTACATTATTATTCCCATTTTACAGAGGAGGAAACTGAGGTAACCTGATCATGACCACACTGCCCCACAGTAGAGGAGCCAGAATCCAAACCCAGGCAGCCTGCCTTGCCACCAGAGCCACGCTTTTCACCCTCAAGCTGCAGTTAAGAAGTATCACGCCGTGGCTAGGCCCACGGCCTCTGGCTTCACATCCCACTAGCTCTGCCATCTTTAGCTGTGTGACCTTGGGCAAGTTACTTGTCTGTGCCCGAGGGTCCTCTGTAAAGTGGGGATAGTAGTAGCTGCTTCACTGGGTTCCCTTCAATGAGTTAATAGCTGTAACATGTTTAGAATGGTGCCCTGCACATAGTCACCAGCCAGTACATATGGGCCATTATTCCTGAACCCTGGATAGGCACATGTCCTTGAAGAGTGTAGAATTCTTCAGGATTCTGAAATGCCAGCCTGTGGGATCCTGGAATCCTCCAATAGCATTCTAACAGCTCTCAGCTGCAGAACTGTACCCTGTTTTCTAGAGCTGGAAGGTGTGAGGCTGCCTGTCCACCCAGCTCAACCCCACAGTAGGCAAATGAGGTGATGTCAAAGCCTTGGCTGGGGCCCAGCCCCGGTAACCTCCCACTCTCCCTCCCCTGTGTGCTCCCTCGCTCAGATTCACACACACACTCCAGGCCAGCCGGGCCCAGAGGGAAGGTGAGAGGGCAAGGAGTAAAGGTGGCTGGGTGTGGGTCCGTTGAAGCGAGCCGCCTCCAGCCCTGTTGAACTGGTGGGCCCAGGGACTGGAGCGGGATTGAAAGGGATCTTGCTCTCCCTTGAAGCCTTGAGTTGCAGCGATTTCAGTGTCTTCTCTCCCTGTGTAAGCCTGTCTCGGTGTTTAGGCTGAACTACAGCCACCCCCTCTCCCGGGGGTGTGCAGGCCAGGGACTGGCCAGGCAGCCATGGCTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCTTTTCCTGCTGGCCCTCGGTACGTTCCTCATGAGCCATGATCGGCCCCAGGTCTACGGCACCTTCTATGCCATGGGCAGCGTCATGGTGATCGGGGGCATCATCTGGAGCATGTGCCAGTGCTACCCCAAGGTAGGTGGTAGTGGGGCTGGGTGGGGCCAGGTCAGCTGGGGCCAGGAGGGCTGGACACTGTGCCTGTATGCCATGCCTCACCCCCTATCCTTTAGTTGTCTTTTCATTCTTCTCATTTTGACTCGGTCTTCTCTCTGCTCTCCTGAGCGTCTGTCCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTTAGCCTAAGGGTTGATCAGAAGGCCCCTGGATCTGGAGCCCTGAGCCGGAAGCTATGGTATAGACACAGCAAACACAACACACCATGTGCTTGAAACAAAAGCTAATGAGCGCTGACCCCCTGCCAGGCACTCCTGCGTTCAGGGTGCAGTTCAGCCCTCATCCTAAGCCTTTTGGTGCTTTCTGTAGTTCCACCTTCTGAGCCTTTCTGAGGTCCAGAAAGAGAGGCTGCACAGCTAACGAGCAAGGTTTGGAGCTCAGATGCGTGTGACTTACACGTCACCCTTCACCTTGGGTCTTCTACCTCTGGGTCCCAGAGCGACTGAGAGCTCCAGGGTAGGTCAGGTCTAACCTTGGTGGCATGCACTGGGCAGTATCCTTTAGAGTCTTCATGTATTCTCAGCCTTATGTGTAATTTAGTGATGGGAAGAGCACTGGTTTGGGAGTCCTGAGTTCTAGTTCAAGTCCTGTTCCAAACTCTCTATGACCTTTGTCTTTCTGAGCCTCATTTTTTTCATCTGCAAATGAGATCCCTGCCCCTATTTTCCACAGAGCTTCACAGGGTCATTATAAAGATCAGAGAAGAGATAAGATATAGGAATATTTTGTAAACTGTAAGGTGTTATTTATAGATGAAGGGCTACCACTGTTACCCATACTGATCCTCCCAACAGCTCTGTGGAATGGAAATGCCAGGAGTTGCGAATCTTCAATGCCTAGAGAGGCTGGGTGACTTCCAAGGTCACACAGCTGGTCAGGTACAGACCCAGGGAGAAAAGGAGGGAAATAGGGACTCTAACTTGGGCTCTGTCTCTTACTGCCTGGGAGACTTTGCTCAAGCCCCTTTCCTCTCTGAGCCTCAGTTTCCTCATTTGTACACTGTGTGAGTTAGGAGGGGGGGGTGGGAAAGGGGGTATATCTGGGGGCCCTGCTGGACCTAATATCTAGGGCTCCAGGTCCAGGCAGTCCTCAGCAACCCCCACACCTCCTCTCCTCCCACCTGGGTGGCTGTGCTCAGGGTTTCAGGGAAGAAGGGGGATGGCTCCCTGGGGCCTGGGCCGGCTCTCCCCAGCCCTGCCCCCTCCACGGGCCAACCCTGGGCTGTCATTCTGTTCAGTGCTGGAGCGGTCTGGGCTGGTTTGTAGTCATTTAGCAGGCAGTTTACAGTCAACTTGCCTCTGTCTGTGCAATTCCTTGAGCAGAGGTCACTGGGAGAAGTCCTTGGGGCCAAAGCCACTCATGTCACCACTGCTATTATAATCCTTCTCCCAGTGAGGAGGCTGGACCCTGGGGGACAGCAGAGGGATGGCAGAGGTGTGGAGAGGAGCATCCTTCCTGCCCCCGCTCTTAAATAGAGCTGGCTCTGGGATGGTTGGTAGGCTGATGGGAGTGACGGTAGAGGGGAGGGGAGGGGAGGAGGGAATATTGCTGGGTATTAATGAGTAACTGTTGATAGATTCATGGGTTCACGTGCTGTGGAGGCAGCGTGGTGGGCTGAAAATGGCACATGTTGTGGCAACCTCCAGGCCCAGATTCAAATCCCTGCTCCTTCATGTCCCACTTCTGTGACCTTGGCAGAAAGAGTCCCTCCCCCTCAGCTCTGAGCCTTGTACGGCTGATTGGGAGAACACAGTGGGATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGGGAGACCTGGCATCACACCTGCCATGGAACATATGTGAAGGCATTGTTCTTAGGATTGAGGATTGGTATTTGCGGCACTGGGTGGGCCTCTGCATGAGTGCAGGTGTGTGTGAGTGTGTGTTTCAGAGATGCAGGCTGGT
|
TCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTCCTGCCCCTCAGCCATCGCTCAGCCAGGGCCCCTGAGCTCCCTCCAGGACCTCCTCTGCGAACTGTCAAGTGCACCTGGACTCTGAGGGCTGGCGATGGTGGGTGTGAGGAAGGAGAAACCCCTGTTGGAAAAAGGGCCTATGAGAAGGACGTCTAGTTAGAGGGGCAGCTGTGAGCACAGGTGTGGGGTTAGGGAACAAGGGCAGCCCTGCTGGCAGGAGGGGAGAAGGTGATGACCGCCAACAGGAAATCCCCAAGCCCAGCAAGTCAGGGAGCCCATTGAAAGCCTTTTATCCTGCATCGGCGATTTAACCCCATGTAAACGCCAAGTGAACATTCTCTTGTAGAGACCGATGGTCCTCATTTTCCTGTAATCCTGTAAAGGAATCTGATTTCTTCCATCAGCCTGTCCCTAGGACTAAAATGCCTCATTAGTGTTATTCTTAGGAAGGCATCTTCCTAGATCAGGCTGCAAGGAAATGGAGGAAGTGACTGTCAGTCACTCACACCCTGCAGGGGCACTAATTCCGAGAGCCTTAGGGGTGGGTGGGGAGCAGTTCATTGAAAGCCCAACTGGGTGGTGCATAGCGTGTGAATGTGAAGGGGATGGAGGAACCCAAGGAGGCCAGGCCTGGAGACAGCACCAAATCTGGGAGGTACATTATTATTCCCATTTTACAGAGGAGGAAACTGAGGTAACCTGATCATGACCACACTGCCCCACAGTAGAGGAGCCAGAATCCAAACCCAGGCAGCCTGCCTTGCCACCAGAGCCACGCTTTTCACCCTCAAGCTGCAGTTAAGAAGTATCACGCCGTGGCTAGGCCCACGGCCTCTGGCTTCACATCCCACTAGCTCTGCCATCTTTAGCTGTGTGACCTTGGGCAAGTTACTTGTCTGTGCCCGAGGGTCCTCTGTAAAGTGGGGATAGTAGTAGCTGCTTCACTGGGTTCCCTTCAATGAGTTAATAGCTGTAACATGTTTAGAATGGTGCCCTGCACATAGTCACCAGCCAGTACATATGGGCCATTATTCCTGAACCCTGGATAGGCACATGTCCTTGAAGAGTGTAGAATTCTTCAGGATTCTGAAATGCCAGCCTGTGGGATCCTGGAATCCTCCAATAGCATTCTAACAGCTCTCAGCTGCAGAACTGTACCCTGTTTTCTAGAGCTGGAAGGTGTGAGGCTGCCTGTCCACCCAGCTCAACCCCACAGTAGGCAAATGAGGTGATGTCAAAGCCTTGGCTGGGGCCCAGCCCCGGTAACCTCCCACTCTCCCTCCCCTGTGTGCTCCCTCGCTCAGATTCACACACACACTCCAGGCCAGCCGGGCCCAGAGGGAAGGTGAGAGGGCAAGGAGTAAAGGTGGCTGGGTGTGGGTCCGTTGAAGCGAGCCGCCTCCAGCCCTGTTGAACTGGTGGGCCCAGGGACTGGAGCGGGATTGAAAGGGATCTTGCTCTCCCTTGAAGCCTTGAGTTGCAGCGATTTCAGTGTCTTCTCTCCCTGTGTAAGCCTGTCTCGGTGTTTAGGCTGAACTACAGCCACCCCCTCTCCCGGGGGTGTGCAGGCCAGGGACTGGCCAGGCAGCCATGGCTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCTTTTCCTGCTGGCCCTCGGTACGTTCCTCATGAGCCATGATCGGCCCCAGGTCTACGGCACCTTCTATGCCATGGGCAGCGTCATGGTGATCGGGGGCATCATCTGGAGCGTGGGGCCAGGTCAGCTGGGGCCAGGAGGGCTGGACACTGTGCCTGTATGCCATGCCTCACCCCCTATCCTTTAGTTGTCTTTTCATTCTTCTCATTTTGACTCGGTCTTCTCTCTGCTCTCCTGAGCGTCTGTCCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTTAGCCTAAGGGTTGATCAGAAGGCCCCTGGATCTGGAGCCCTGAGCCGGAAGCTATGGTATAGACACAGCAAACACAACACACCATGTGCTTGAAACAAAAGCTAATGAGCGCTGACCCCCTGCCAGGCACTCCTGCGTTCAGGGTGCAGTTCAGCCCTCATCCTAAGCCTTTTGGTGCTTTCTGTAGTTCCACCTTCTGAGCCTTTCTGAGGTCCAGAAAGAGAGGCTGCACAGCTAACGAGCAAGGTTTGGAGCTCAGATGCGTGTGACTTACACGTCACCCTTCACCTTGGGTCTTCTACCTCTGGGTCCCAGAGCGACTGAGAGCTCCAGGGTAGGTCAGGTCTAACCTTGGTGGCATGCACTGGGCAGTATCCTTTAGAGTCTTCATGTATTCTCAGCCTTATGTGTAATTTAGTGATGGGAAGAGCACTGGTTTGGGAGTCCTGAGTTCTAGTTCAAGTCCTGTTCCAAACTCTCTATGACCTTTGTCTTTCTGAGCCTCATTTTTTTCATCTGCAAATGAGATCCCTGCCCCTATTTTCCACAGAGCTTCACAGGGTCATTATAAAGATCAGAGAAGAGATAAGATATAGGAATATTTTGTAAACTGTAAGGTGTTATTTATAGATGAAGGGCTACCACTGTTACCCATACTGATCCTCCCAACAGCTCTGTGGAATGGAAATGCCAGGAGTTGCGAATCTTCAATGCCTAGAGAGGCTGGGTGACTTCCAAGGTCACACAGCTGGTCAGGTACAGACCCAGGGAGAAAAGGAGGGAAATAGGGACTCTAACTTGGGCTCTGTCTCTTACTGCCTGGGAGACTTTGCTCAAGCCCCTTTCCTCTCTGAGCCTCAGTTTCCTCATTTGTACACTGTGTGAGTTAGGAGGGGGGGGTGGGAAAGGGGGTATATCTGGGGGCCCTGCTGGACCTAATATCTAGGGCTCCAGGTCCAGGCAGTCCTCAGCAACCCCCACACCTCCTCTCCTCCCACCTGGGTGGCTGTGCTCAGGGTTTCAGGGAAGAAGGGGGATGGCTCCCTGGGGCCTGGGCCGGCTCTCCCCAGCCCTGCCCCCTCCACGGGCCAACCCTGGGCTGTCATTCTGTTCAGTGCTGGAGCGGTCTGGGCTGGTTTGTAGTCATTTAGCAGGCAGTTTACAGTCAACTTGCCTCTGTCTGTGCAATTCCTTGAGCAGAGGTCACTGGGAGAAGTCCTTGGGGCCAAAGCCACTCATGTCACCACTGCTATTATAATCCTTCTCCCAGTGAGGAGGCTGGACCCTGGGGGACAGCAGAGGGATGGCAGAGGTGTGGAGAGGAGCATCCTTCCTGCCCCCGCTCTTAAATAGAGCTGGCTCTGGGATGGTTGGTAGGCTGATGGGAGTGACGGTAGAGGGGAGGGGAGGGGAGGAGGGAATATTGCTGGGTATTAATGAGTAACTGTTGATAGATTCATGGGTTCACGTGCTGTGGAGGCAGCGTGGTGGGCTGAAAATGGCACATGTTGTGGCAACCTCCAGGCCCAGATTCAAATCCCTGCTCCTTCATGTCCCACTTCTGTGACCTTGGCAGAAAGAGTCCCTCCCCCTCAGCTCTGAGCCTTGTACGGCTGATTGGGAGAACACAGTGGGATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGGGAGACCTGGCATCACACCTGCCATGGAACATATGTGAAGGCATTGTTCTTAGGATTGAGGATTGGTATTTGCGGCACTGGGTGGGCCTCTGCATGAGTGCAGGTGTGTGTGAGTGTGTGTTTCAGAGATGCAGGCTGGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 9,513 |
Is the genetic variant on chromosome 1, position 55039879, gene PCSK9 (proprotein convertase subtilisin/kexin type 9), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
TCCCCTCTGCCCTGAAGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATA
|
TCCCCTCTGCCCTGAAGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAG
|
benign
| 9,552 |
Does the chromosome 1 mutation at position 55039894 within gene PCSK9 (proprotein convertase subtilisin/kexin type 9) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
AGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGCACATGTCCA
|
AGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGC
|
benign
| 9,556 |
Variant at chromosome position 55039903, chromosome 1, gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
GCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGCACATGTCCACAGTTCTTT
|
GCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGCACATGTCCACAGTTCTTTNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 9,558 |
Evaluate this variant at chromosome 1, position 55046570, gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
GTCACATCTTCGGTGGAGGGGCAGAAAGGGGACTGGGTATTCTCCTCACCCTGGCCCTAGTGCTTCAAATCTTAAAAAAACGTTTTTATTTGTGCTTCTGCACCACCTTCTAGCCCACCTCGTTTCCTGGCCTCTAACTTGATGAGAGCGTGTGTCATTTTCACACTGATTCTCCACATGGCAGGCGGTGCTTCTTAGCCTCCTGCAGACAGTGAGGCCCCACGGTCTTGTCCAAGGTCACACAGCGTGTAATGGGCAGGGTCAGAGTCTGGAGTCTGGACCTGGGTCTCCTAGCTGCACTGCACTGCTGCCCCATGGGTTAATCAGCTCAGCATACCGTGGCTGAACAGCTACCTCATACCAAGGCCTGTGGCGCCATGACAGGGATTGACAGGGTCCCTGCCTTGGAAACCCGTAGTCTAAGTAGAGGAGACTGACAAGTCAATGCCTTCCATCAGTCTGCTCAACACACGTTTACCAAGTGCCTACTGTGTGCTGCAGAGGCGAAGATGACACAGCTCAGGCCTTTCCCTTGAGCTTACAGTTCAGGAGGAGAGACTGACCAGTGACTGCCAGTACAGTTGACTATGGGACAATGTGCTCAGCCTTGGGGAGAGACGAAGAAGGTACCCGTATAGCACCAGATGACAGGCACGAGCCCCACAGGCCAGGGCAGCTGCTCAGAGGAGAGTAGGCCAAGCAGAAGGCAAACAGAAGGCTGCAGGCATTTGCCATCGAGAGCTGGACTTCAAACTGGGCATCATACCAGCCTGGGTTCGAGTCCTGCCCAGCCCCTTATTGGCTGTCTAACCCTGAGCAAATCCCTTCACCTCTCTGAGCCTCATTCCTCTATCTGTAAACCAGTTATAATAATTGGAACATTCATTTAAGGACTAAATGAGGTCGTGAAGCATTCAGCAGATGCTAGGTACGGAAACTCGCTGAAGTGGGGGCAGGTTAAGAAGCCTCTGGGGATACGAAGGCATCCAGGGACTAGTTGTGGCAGGAGGCTGTTACCACTTAGGTCTGAAGGGTAAGGAGAGGGAATAGCTTTCCCTCTGCCCAGTTGGAGCCGGTGGCATGGAGGAGAGGCTGCCTGTGGGGAATCACCCGAGGGTTCACCGCTGCCATGCGCAGGGAGTCAGGAGGTAGGGAGGGAGTGGGGCAGATGCACACCATTTTTTTTTTTTTTTGAGACTCTGTTGCCCAGACTGGAGTGCAGTGGTGCCATATCTGCACCTCTGCCTCCCGGGTTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTCGACCTCAGGTGATCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCTCCCAGCTGCTGATGCACTCTTGTCCTTCTAACTCCTGCTAGTGCCTCCCATTGGCTGAGCCCAACTGGAAGCTTTGCAAGGGAGCTGGTGCTGCAGTTTGCACTGAGCAGGCTGGAGAAGGCTGGAGAATAGACTAGGGGACAAACCGAATTGCCAGTGCTGTTATGTCATGATTTAGGCATGGAGTCCAGGGCCTGAGCTTCACTCCATGTCCATCCTGCCCAGAGCCTTGGCACAGCCTGGCTCCCAGACAAGATGTCAAGTTCAGAATCCTTCCTAAAAGGAATCCTCTATGCCAGACCGTGTTGCAGGGATATGGGAGTGCTGGGCTCCCAGCCTGATCAAGGAGCGAGAAAACTCAGGCTCCTAGTCTGTCCTCCGGGGCACTAGCAGGGACAAGGTGGGAGGCTGCTGGGCTGGGATGTGGGGACAGGTTTGATCAGGTAAGGCCAGGCTGTGGCTGTGTTTGCTGCTGTCCAAATGGCTTAAGCAGAGTCCCCCGGCCTCTCTGGCTTCTGCAGGCCTTGAAGTTGCCCCATGTCGACTACATCGAGGAGGACTCCTCTGTCTTTGCCCAGAGCATCCCGTGGAACCTGGAGCGGATTACCCCTCCACGGTACCGGGCGGATGAATACCAGCCCCCCGGTAAGACCCCCATCTGTGCCCTGCCCCACCCCATCTGAGCTGAATCCATTTGCTCTGCCCTGGCCTGGCCTCCCTGCTGGTGGTTTCCACTTCTCGGGGGGCTTTGGGACTCAGCACCTCCACTGACCCCTTTTTTTCTGTCCCATCCCCATCCCCTGCAGCCCCCACTGCCTGCCTTCCTGTTGCCCCACAAATGCAAAAGTCTTGCCTTAAATGATCCTCTTTTCCTTCTTTTCTCTTGTTTTCCTTTTCTCACCATTTGGAATGGCCCAGCAGGCTGCACTTACCTTGGAAGGAGGGTTCATCTGATGGTGACTCTACCTAGGGCCCCCAGGCCTCTATAACTCCCAGTGCCCTGCAGACTGGACCAGATCCTTTAATGGGATAGACACAACCCTGTCTGGGATGCCTCTGCCTACCTTCCTGTTTTGCTGCTCCACCTGCCTCCAGCTCCGTTTGGCTTCCTGGGGCTCCCTGCCTGGGCCACTTTGTGTCTTCCCTCTAGGCCTTTCTTTCCACTGTTCCCTCTGCCTGGTGTGGCCTGGCTATGGAAGGGAGGGAGGAGGAGCGGCCATGGAAAACGGTCTGCATTCTAGCAGGGACTTGCAGGTGGCAATTCAGTCGGGGAAGACTCTAGATGCACCTGGCCTGAGGAGAGAATGAAGGGTTCTAGTTGGACTGTGTTAAGTTTGAGGTGCCCATGGTGTGAGGTCTGGAGCTCAGCGCAGAGATGATGCAATGTGGTGGGTCCATGCAACATGGTGCCAGGACGCAGAGCTTGGGGTGAACTCAGCTTTCACCCCTTACCGGTTCTCGTGGGATCTTGGGAAGCCACTTTCTTCTATGAGCTTTGTCGTTCTTGTCTGTAAAATGGGCACATAACCCTGTCCCTGTCCTTCTCACAGGTTGCTGTGAGACTCCAATGAGTTGAAGGATGTGCAGATGCTTTTGGAAGTGAAAAGTTGGGGGGCTACTGTGTGACTTTGCATACACCCAAACTGTGTGACCTTGCATATGTCTGAGTTGCTGCCATTGCAACAGATCAGAGCTGGTGGGCTGGGTGTGGAGAAAGGGTTTGTGTGGGGGACATCCTCTGGCAAGGGTGGCAGCAGCAGAAGTGAGGGGCCTGGTCGGTCATGTGTGCTGACCCGGCCTGGGCAGCCTGTGGCCAGGGAGAGGACAGCTCCTCTGTAGGAAGAGCCTGTTCCTTTCCAACCAGGTGAGACCTCTTCAGTGGAGCCCTGGAGCCCCCTGTACTCCACATCAGTGCCTCAGGGACCTCCCGGAGCAGGCTAATATCAGAGACCAAGAGGGACACTGGCAGAGGATCACAGAGACCCCAGTCCAGGCAGGGACTGAGAAGATCTTGCCCCCTAAGTTAGTTTCCTAGCACTGCTGTGACAAATTACCACCCCCTCGGTTGGAACAAGTTGATTCTCTGCAGTCCTGGAGGCCAGAAGCCTGAATCAGTGTCGGCAGGACCACTTTCTCCCGGGGGGCTCCAGGGAGAAGCTTCTCTTGCCTCTTCCGTGTCCCAACAGCGGCAGCACACCAATCCCAGCCTCTGTCTTCACACAGCCTTCTCTGTGTCTCTCTCCTCTTCATTGTCTCATAAGGACACTTGTCATTGGATTTAGGGCCCACTGGATCCTCCAGGATGATCTCATGTGGGGAACCTTAACCACATCTGCAAGGACCCTTTTTCCAAATAAGGTCACAGCCACAGGTTGTGGGGGTTAGGATGTGAGTGTATCTCTTTGGCAGCCACTGTTCCCTCCTCTCCCTTGGGCCAGAAGCAGACGTGGGGCCCTTTCTTCCCCATAGGATGCCCATGGATTGCCCCCCTTCCCGCTTCCCCCGAGTGTCTGTGGGAGGTGGCAGGAATGGCAGGCAGGGGTGTGGAACCCCTTCTGGAGTCATATCAAGGGCTTGGCTGGAGGAAGTCCTCCTGGAGCTGTTGGGCTGGCATGG
|
GTCACATCTTCGGTGGAGGGGCAGAAAGGGGACTGGGTATTCTCCTCACCCTGGCCCTAGTGCTTCAAATCTTAAAAAAACGTTTTTATTTGTGCTTCTGCACCACCTTCTAGCCCACCTCGTTTCCTGGCCTCTAACTTGATGAGAGCGTGTGTCATTTTCACACTGATTCTCCACATGGCAGGCGGTGCTTCTTAGCCTCCTGCAGACAGTGAGGCCCCACGGTCTTGTCCAAGGTCACACAGCGTGTAATGGGCAGGGTCAGAGTCTGGAGTCTGGACCTGGGTCTCCTAGCTGCACTGCACTGCTGCCCCATGGGTTAATCAGCTCAGCATACCGTGGCTGAACAGCTACCTCATACCAAGGCCTGTGGCGCCATGACAGGGATTGACAGGGTCCCTGCCTTGGAAACCCGTAGTCTAAGTAGAGGAGACTGACAAGTCAATGCCTTCCATCAGTCTGCTCAACACACGTTTACCAAGTGCCTACTGTGTGCTGCAGAGGCGAAGATGACACAGCTCAGGCCTTTCCCTTGAGCTTACAGTTCAGGAGGAGAGACTGACCAGTGACTGCCAGTACAGTTGACTATGGGACAATGTGCTCAGCCTTGGGGAGAGACGAAGAAGGTACCCGTATAGCACCAGATGACAGGCACGAGCCCCACAGGCCAGGGCAGCTGCTCAGAGGAGAGTAGGCCAAGCAGAAGGCAAACAGAAGGCTGCAGGCATTTGCCATCGAGAGCTGGACTTCAAACTGGGCATCATACCAGCCTGGGTTCGAGTCCTGCCCAGCCCCTTATTGGCTGTCTAACCCTGAGCAAATCCCTTCACCTCTCTGAGCCTCATTCCTCTATCTGTAAACCAGTTATAATAATTGGAACATTCATTTAAGGACTAAATGAGGTCGTGAAGCATTCAGCAGATGCTAGGTACGGAAACTCGCTGAAGTGGGGGCAGGTTAAGAAGCCTCTGGGGATACGAAGGCATCCAGGGACTAGTTGTGGCAGGAGGCTGTTACCACTTAGGTCTGAAGGGTAAGGAGAGGGAATAGCTTTCCCTCTGCCCAGTTGGAGCCGGTGGCATGGAGGAGAGGCTGCCTGTGGGGAATCACCCGAGGGTTCACCGCTGCCATGCGCAGGGAGTCAGGAGGTAGGGAGGGAGTGGGGCAGATGCACACCATTTTTTTTTTTTTTTGAGACTCTGTTGCCCAGACTGGAGTGCAGTGGTGCCATATCTGCACCTCTGCCTCCCGGGTTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTCGACCTCAGGTGATCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCTCCCAGCTGCTGATGCACTCTTGTCCTTCTAACTCCTGCTAGTGCCTCCCATTGGCTGAGCCCAACTGGAAGCTTTGCAAGGGAGCTGGTGCTGCAGTTTGCACTGAGCAGGCTGGAGAAGGCTGGAGAATAGACTAGGGGACAAACCGAATTGCCAGTGCTGTTATGTCATGATTTAGGCATGGAGTCCAGGGCCTGAGCTTCACTCCATGTCCATCCTGCCCAGAGCCTTGGCACAGCCTGGCTCCCAGACAAGATGTCAAGTTCAGAATCCTTCCTAAAAGGAATCCTCTATGCCAGACCGTGTTGCAGGGATATGGGAGTGCTGGGCTCCCAGCCTGATCAAGGAGCGAGAAAACTCAGGCTCCTAGTCTGTCCTCCGGGGCACTAGCAGGGACAAGGTGGGAGGCTGCTGGGCTGGGATGTGGGGACAGGTTTGATCAGGTAAGGCCAGGCTGTGGCTGTGTTTGCTGCTGTCCAAATGGCTTAAGCAGAGTCCCCCGGCCTCTCTGGCTTCTGCAGGCCTTGAAGTTGCCCCATGTCGACTACATCGAGGAGGACTCCTCTGTCTGCCCAGAGCATCCCGTGGAACCTGGAGCGGATTACCCCTCCACGGTACCGGGCGGATGAATACCAGCCCCCCGGTAAGACCCCCATCTGTGCCCTGCCCCACCCCATCTGAGCTGAATCCATTTGCTCTGCCCTGGCCTGGCCTCCCTGCTGGTGGTTTCCACTTCTCGGGGGGCTTTGGGACTCAGCACCTCCACTGACCCCTTTTTTTCTGTCCCATCCCCATCCCCTGCAGCCCCCACTGCCTGCCTTCCTGTTGCCCCACAAATGCAAAAGTCTTGCCTTAAATGATCCTCTTTTCCTTCTTTTCTCTTGTTTTCCTTTTCTCACCATTTGGAATGGCCCAGCAGGCTGCACTTACCTTGGAAGGAGGGTTCATCTGATGGTGACTCTACCTAGGGCCCCCAGGCCTCTATAACTCCCAGTGCCCTGCAGACTGGACCAGATCCTTTAATGGGATAGACACAACCCTGTCTGGGATGCCTCTGCCTACCTTCCTGTTTTGCTGCTCCACCTGCCTCCAGCTCCGTTTGGCTTCCTGGGGCTCCCTGCCTGGGCCACTTTGTGTCTTCCCTCTAGGCCTTTCTTTCCACTGTTCCCTCTGCCTGGTGTGGCCTGGCTATGGAAGGGAGGGAGGAGGAGCGGCCATGGAAAACGGTCTGCATTCTAGCAGGGACTTGCAGGTGGCAATTCAGTCGGGGAAGACTCTAGATGCACCTGGCCTGAGGAGAGAATGAAGGGTTCTAGTTGGACTGTGTTAAGTTTGAGGTGCCCATGGTGTGAGGTCTGGAGCTCAGCGCAGAGATGATGCAATGTGGTGGGTCCATGCAACATGGTGCCAGGACGCAGAGCTTGGGGTGAACTCAGCTTTCACCCCTTACCGGTTCTCGTGGGATCTTGGGAAGCCACTTTCTTCTATGAGCTTTGTCGTTCTTGTCTGTAAAATGGGCACATAACCCTGTCCCTGTCCTTCTCACAGGTTGCTGTGAGACTCCAATGAGTTGAAGGATGTGCAGATGCTTTTGGAAGTGAAAAGTTGGGGGGCTACTGTGTGACTTTGCATACACCCAAACTGTGTGACCTTGCATATGTCTGAGTTGCTGCCATTGCAACAGATCAGAGCTGGTGGGCTGGGTGTGGAGAAAGGGTTTGTGTGGGGGACATCCTCTGGCAAGGGTGGCAGCAGCAGAAGTGAGGGGCCTGGTCGGTCATGTGTGCTGACCCGGCCTGGGCAGCCTGTGGCCAGGGAGAGGACAGCTCCTCTGTAGGAAGAGCCTGTTCCTTTCCAACCAGGTGAGACCTCTTCAGTGGAGCCCTGGAGCCCCCTGTACTCCACATCAGTGCCTCAGGGACCTCCCGGAGCAGGCTAATATCAGAGACCAAGAGGGACACTGGCAGAGGATCACAGAGACCCCAGTCCAGGCAGGGACTGAGAAGATCTTGCCCCCTAAGTTAGTTTCCTAGCACTGCTGTGACAAATTACCACCCCCTCGGTTGGAACAAGTTGATTCTCTGCAGTCCTGGAGGCCAGAAGCCTGAATCAGTGTCGGCAGGACCACTTTCTCCCGGGGGGCTCCAGGGAGAAGCTTCTCTTGCCTCTTCCGTGTCCCAACAGCGGCAGCACACCAATCCCAGCCTCTGTCTTCACACAGCCTTCTCTGTGTCTCTCTCCTCTTCATTGTCTCATAAGGACACTTGTCATTGGATTTAGGGCCCACTGGATCCTCCAGGATGATCTCATGTGGGGAACCTTAACCACATCTGCAAGGACCCTTTTTCCAAATAAGGTCACAGCCACAGGTTGTGGGGGTTAGGATGTGAGTGTATCTCTTTGGCAGCCACTGTTCCCTCCTCTCCCTTGGGCCAGAAGCAGACGTGGGGCCCTTTCTTCCCCATAGGATGCCCATGGATTGCCCCCCTTCCCGCTTCCCCCGAGTGTCTGTGGGAGGTGGCAGGAATGGCAGGCAGGGGTGTGGAACCCCTTCTGGAGTCATATCAAGGGCTTGGCTGGAGGAAGTCCTCCTGGAGCTGTTGGGCTGGCATGGNN
|
benign
| 9,613 |
Subsets and Splits
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