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
|
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 1, position 111780319, gene KCND3 (potassium voltage-gated channel subfamily D member 3) variant? Disease(s) if pathogenic?
|
benign
|
ACTGGAAGCCTGAGCTGGTGCTGGGTGTGACAGCAGAGGTAGGAGGAGCCCCAGAAGAATCAGCAGCACATGCACAGAACCAGGCCGGGGGGTAAAAAGGGGAGAATCCACAGACTCAGAATTATCAGAGAGAAAAACATCAATTGAATTTTTAAAAAGTTATACCTTGATGGTGGAGGTTCGTACAGATAACAGGGGATCATCCACAAGATAGGACAACCCCTACAGGACAACATGCCAACAGAAGATAAAAACACCATTGATTGTACATTCCAGCATTCCCAAGCCAGTTTTGACATTCAATCTCTTGATCCCGGCATTCCACCCTTTGAGTCAAACATTCCACCCCTCATTCCCAGCATTCTGCCCCCTTCCTCCCAACATTCCACCCTTTAGCCCCAACAGGACCCTGCTCAACCCCAACATTCATTCCTTCTATCCCAACATTCTGCCTCTCCTGTCCTGACATTCCACCCCTTAAGTCCAACATTCCTCCCCTAAAATCCAGCATTCCAGAGCTTTAATCCCAATATCTCACCCCCACAATCCAACATTCTTTCCCTCAAATTCAGCATTCCATCCCTTCAATGCCAGCATTCCATCCCTCAATTCTAAAATCTCATTTCTTTAATGCCAACATTCCAGCCCTTCAAACCCAAATATTTTCACCCATATCCTTTCAATTTACACATTCCACCCAGCACATGCAACTTGGAAAGGGCAGTTGGGTCCGGGCCTATCCCTTTGGCAAGCTCAGAGTCTTTGAGAGAAAGTCTATACATGAATATATGTTTTTGATGATAAATCCTGTAACTAGGGTTTGCAGAGCACCTTCCCATTTTGGAAGTAATTATTGGGTTCAACTGTCATCCACAGGGTCCACATTTGGCTCAGATAGAGTCATCGAAGCCAGGCATGGTGGTCTGTACCTGTAGTTCCAACTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTTAAGACCAGCCTGGGCAACATAGCAAGATCCTGTCCCTGCAGCCCCACACCCCCCTCCCCACCAAAAAAAAAGGAGTCATCTAACATTTATTCTCTCTACATCTGGGAGGCCAGGATATGGAACATCTAGAATTAGGAAGTTCCTTCCTTAGGGTACTGAGCCCTGACTATAGACTCTTTGGGGAGGAGGTTCTGGAAAGGAGCAGGAAGGCTTTCACTTTGTTTCTCCTTGGCTTTTCTACTCTGACCTCTCTTCCCTGTCTACTATTCCTAGCAGTTTCTGCCAAGGGTCCAGGGTTGGCCCCACTGCCCTTCCTTTCAGTCTGATGGTTAGGCACAAGCATCATTCCACACTCCAGCTGTGGCACCCTAAACCATGGCTCTGTTTTAACAATCAGCCTGTTAGCATCTGGACTCCCTGAGAACCACAGGGTGACTGGGCAGGGGTGGGGGTGGGGGGGCGGTACTTCTGAATCCTAGTTGGAGAAATACATGCACTACCTCCTTCACACGCTGTCTGCAGGAGGATGTAGGGAGCCAAGGGGCCCACAGGCTGCATCAACCCAGCCCCAGAGGTGGGACAGAAATCAACACTCTTCTCTACTCTCCTACACAAATTCAGCCCAAGCTTTGAAGGGTGATGCCTGTCAGAACTGAGAAACTGATAGGCAGACCCCTAAGTCCTCAATAATCAAGAAATGGGCTGTGGAGACGAGTGTAGGAGTGTGTGGGAGGCTGGGGGAATGGCCTCCTCAATGCTCCTGCAGGACAGAGCTGGTCTCCCACCCTGGTGACCTTGCCCCACTCCTCAGGGTCTTCCACCTGAGGGCCAGTAGATCCCATCACTACCTTTTGGATCTGAAGGGGACAGACTTTGACTTCTGGCCCAGAGTGAAGATGTGAGTACAGCCTTAGAAAAGGGTCAGGGTCAGCGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTAAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTTCCCCTCTCCAGCTCCTTCATTTCTCCACTAAAGGTCAAAGGGCAATAGAATAATCAAATTTTTTTTTATTTGACCAAATTTCAGGGTCAGCATTGAATATGCTAACCTTTGGGCTCAGGGGCCCTTGGTCTAAACCTGGTTTAGAGGTAGTGGTGATAATCCTATGGAAGTGGTGTGTGAATGGGGGGCTGCTACCTGGGGAAAGTTTGGAAACGTGTCCTCCTTGGGGTTCATACTGGGGCTCTGGTGAGAGTGCTGGTGTCCCGGGAAAGAGAAAACAAGCCCATCTACCCCTTTATGTTCCCTAGCCCAGGTCCTCTAGGCACCTACCGTCAGCTCCAGCGCCTCGTTGAGGAGCCCGTTGCGCTTGCTGTGCAGGTATGCATTCGAACTGCCTGTTTTGGCCACACGGATCCTGGCAAGGCGGGCCTTCTGTGATTGGCAGAGATAATAAAAGAATGAGGCAGACCATGATACAAAAAGACAGCAAGGCTGGTGAAGCTGTGAGGCTGGCTTCCCAGGTGACACCTGATGAAGGGGATGAGGCTGTTTCTCTCCAACCTCATGCATCTCCAGTTGTGTACCCACTTTGTATAGCTTGGTTGGGTCAGAATTCCCAGGAGTCTCCACTCATCTCTCCAGCCCGGGTATAATCCTGGCAGGAGAAATATCACTCATCCAAGCTCTCTTCTCCCAAAGGTTTCATGACCTTTATCTACTCAGTATTGCAAAATGCCATGTGCTATTCAGTTGTGCTCCTCAGTTTTCTTATCTCTAACTAAATTGCAAACTCCTTAGAGGAGTGTATGTGATAGCTGCCCTGATTCTCCTCTAGGGTCCAGTACAATTTTCTGCATATAGTAGGTCCCCAAGTATTAGTTAATTATGAGAAAAGCAAGGAGTGGGCCTATGTGCTCTTCAATGCTTCTTAACTCCTCTGCAATTTTTTTCTTTGCACGTATTACTAAGGAAATATATGTTTTATATATTTTTCTTGATACTTTCTCTTTCTCTTCCACTAAAATGTAAATTCCTTGAGGGCAGGAGTTTTTGCCTTGTTTACTGATGTACCCCCAGTAAACAGTAGGTTCTCGATTTTTAAAGTTAATAAACACATTTACAATTGTATATCTGTCTTTGGGAGTAGATTCATGCATGTATATGGTTTTTTTATTTTTTTGAGACGGAGTCTCGCTGTCACCCAGGCTGGTGTGCAGTAGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCAACACACTCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTATCACCATGTTGATACCATGCAGGAGGGCTGCATGGTATCAAGCTCATCTCTCCTGCTTGCACAGGGAGAAGCTGAACACATTACATATGCTGGCTGCCCTTCTCCTTCCTAATGACTGTAATCATTGTCACTATGACAGTAGCACAGCCAAAGAGAGAGGACTAAGGAATGAGACTGAGAGAGGGAGAAGGGACTGGGTAGAGGTTTCTTGCTAGTTTAAAAAAATGCAGCTTGAGGTTTGGGCTCTGTAAATCTATTTACAGCCCCAGGTGCTTGCTACTGGAAGCAGAACAGCCCACAAGGATAGCAGACCCATCCTGGAGTAGAAGGTCCCTCCTCCTGGCTCTGAGCAAGTCCACATGTGACTTCAGCATGGACCCTAAGCAGGAAAAGAGTCCTAGGGAAATTGTGGCAATTTCCACTTCTTGTCACCCTCTCCCCAAGTGTCCTGCTGGGCTGGTTCATCTGCTAAAAGGAGGCCACAGTCTCAGGGGTTCAGGTGGACAACAGAAGCACAAAGGATGTATATCTCTTGCTTCCTGGGAAGTATCTCCTTGCAGAAACAATTCAACTCCCTTCCCAGGCTTCTAAATGTGGGGAAGGGGCCAGGACTTGAGCCTGAAAGATCTTCCTTTAAGTCTGA
|
ACTGGAAGCCTGAGCTGGTGCTGGGTGTGACAGCAGAGGTAGGAGGAGCCCCAGAAGAATCAGCAGCACATGCACAGAACCAGGCCGGGGGGTAAAAAGGGGAGAATCCACAGACTCAGAATTATCAGAGAGAAAAACATCAATTGAATTTTTAAAAAGTTATACCTTGATGGTGGAGGTTCGTACAGATAACAGGGGATCATCCACAAGATAGGACAACCCCTACAGGACAACATGCCAACAGAAGATAAAAACACCATTGATTGTACATTCCAGCATTCCCAAGCCAGTTTTGACATTCAATCTCTTGATCCCGGCATTCCACCCTTTGAGTCAAACATTCCACCCCTCATTCCCAGCATTCTGCCCCCTTCCTCCCAACATTCCACCCTTTAGCCCCAACAGGACCCTGCTCAACCCCAACATTCATTCCTTCTATCCCAACATTCTGCCTCTCCTGTCCTGACATTCCACCCCTTAAGTCCAACATTCCTCCCCTAAAATCCAGCATTCCAGAGCTTTAATCCCAATATCTCACCCCCACAATCCAACATTCTTTCCCTCAAATTCAGCATTCCATCCCTTCAATGCCAGCATTCCATCCCTCAATTCTAAAATCTCATTTCTTTAATGCCAACATTCCAGCCCTTCAAACCCAAATATTTTCACCCATATCCTTTCAATTTACACATTCCACCCAGCACATGCAACTTGGAAAGGGCAGTTGGGTCCGGGCCTATCCCTTTGGCAAGCTCAGAGTCTTTGAGAGAAAGTCTATACATGAATATATGTTTTTGATGATAAATCCTGTAACTAGGGTTTGCAGAGCACCTTCCCATTTTGGAAGTAATTATTGGGTTCAACTGTCATCCACAGGGTCCACATTTGGCTCAGATAGAGTCATCGAAGCCAGGCATGGTGGTCTGTACCTGTAGTTCCAACTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTTAAGACCAGCCTGGGCAACATAGCAAGATCCTGTCCCTGCAGCCCCACACCCCCCTCCCCACCAAAAAAAAAGGAGTCATCTAACATTTATTCTCTCTACATCTGGGAGGCCAGGATATGGAACATCTAGAATTAGGAAGTTCCTTCCTTAGGGTACTGAGCCCTGACTATAGACTCTTTGGGGAGGAGGTTCTGGAAAGGAGCAGGAAGGCTTTCACTTTGTTTCTCCTTGGCTTTTCTACTCTGACCTCTCTTCCCTGTCTACTATTCCTAGCAGTTTCTGCCAAGGGTCCAGGGTTGGCCCCACTGCCCTTCCTTTCAGTCTGATGGTTAGGCACAAGCATCATTCCACACTCCAGCTGTGGCACCCTAAACCATGGCTCTGTTTTAACAATCAGCCTGTTAGCATCTGGACTCCCTGAGAACCACAGGGTGACTGGGCAGGGGTGGGGGTGGGGGGGCGGTACTTCTGAATCCTAGTTGGAGAAATACATGCACTACCTCCTTCACACGCTGTCTGCAGGAGGATGTAGGGAGCCAAGGGGCCCACAGGCTGCATCAACCCAGCCCCAGAGGTGGGACAGAAATCAACACTCTTCTCTACTCTCCTACACAAATTCAGCCCAAGCTTTGAAGGGTGATGCCTGTCAGAACTGAGAAACTGATAGGCAGACCCCTAAGTCCTCAATAATCAAGAAATGGGCTGTGGAGACGAGTGTAGGAGTGTGTGGGAGGCTGGGGGAATGGCCTCCTCAATGCTCCTGCAGGACAGAGCTGGTCTCCCACCCTGGTGACCTTGCCCCACTCCTCAGGGTCTTCCACCTGAGGGCCAGTAGATCCCATCACTACCTTTTGGATCTGAAGGGGACAGACTTTGACTTCTGGCCCAGAGTGAAGATGTGAGTACAGCCTTAGAAAAGGGTCAGGGTCAGCGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTAAAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTTCCCCTCTCCAGCTCCTTCATTTCTCCACTAAAGGTCAAAGGGCAATAGAATAATCAAATTTTTTTTTATTTGACCAAATTTCAGGGTCAGCATTGAATATGCTAACCTTTGGGCTCAGGGGCCCTTGGTCTAAACCTGGTTTAGAGGTAGTGGTGATAATCCTATGGAAGTGGTGTGTGAATGGGGGGCTGCTACCTGGGGAAAGTTTGGAAACGTGTCCTCCTTGGGGTTCATACTGGGGCTCTGGTGAGAGTGCTGGTGTCCCGGGAAAGAGAAAACAAGCCCATCTACCCCTTTATGTTCCCTAGCCCAGGTCCTCTAGGCACCTACCGTCAGCTCCAGCGCCTCGTTGAGGAGCCCGTTGCGCTTGCTGTGCAGGTATGCATTCGAACTGCCTGTTTTGGCCACACGGATCCTGGCAAGGCGGGCCTTCTGTGATTGGCAGAGATAATAAAAGAATGAGGCAGACCATGATACAAAAAGACAGCAAGGCTGGTGAAGCTGTGAGGCTGGCTTCCCAGGTGACACCTGATGAAGGGGATGAGGCTGTTTCTCTCCAACCTCATGCATCTCCAGTTGTGTACCCACTTTGTATAGCTTGGTTGGGTCAGAATTCCCAGGAGTCTCCACTCATCTCTCCAGCCCGGGTATAATCCTGGCAGGAGAAATATCACTCATCCAAGCTCTCTTCTCCCAAAGGTTTCATGACCTTTATCTACTCAGTATTGCAAAATGCCATGTGCTATTCAGTTGTGCTCCTCAGTTTTCTTATCTCTAACTAAATTGCAAACTCCTTAGAGGAGTGTATGTGATAGCTGCCCTGATTCTCCTCTAGGGTCCAGTACAATTTTCTGCATATAGTAGGTCCCCAAGTATTAGTTAATTATGAGAAAAGCAAGGAGTGGGCCTATGTGCTCTTCAATGCTTCTTAACTCCTCTGCAATTTTTTTCTTTGCACGTATTACTAAGGAAATATATGTTTTATATATTTTTCTTGATACTTTCTCTTTCTCTTCCACTAAAATGTAAATTCCTTGAGGGCAGGAGTTTTTGCCTTGTTTACTGATGTACCCCCAGTAAACAGTAGGTTCTCGATTTTTAAAGTTAATAAACACATTTACAATTGTATATCTGTCTTTGGGAGTAGATTCATGCATGTATATGGTTTTTTTATTTTTTTGAGACGGAGTCTCGCTGTCACCCAGGCTGGTGTGCAGTAGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCAACACACTCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTATCACCATGTTGATACCATGCAGGAGGGCTGCATGGTATCAAGCTCATCTCTCCTGCTTGCACAGGGAGAAGCTGAACACATTACATATGCTGGCTGCCCTTCTCCTTCCTAATGACTGTAATCATTGTCACTATGACAGTAGCACAGCCAAAGAGAGAGGACTAAGGAATGAGACTGAGAGAGGGAGAAGGGACTGGGTAGAGGTTTCTTGCTAGTTTAAAAAAATGCAGCTTGAGGTTTGGGCTCTGTAAATCTATTTACAGCCCCAGGTGCTTGCTACTGGAAGCAGAACAGCCCACAAGGATAGCAGACCCATCCTGGAGTAGAAGGTCCCTCCTCCTGGCTCTGAGCAAGTCCACATGTGACTTCAGCATGGACCCTAAGCAGGAAAAGAGTCCTAGGGAAATTGTGGCAATTTCCACTTCTTGTCACCCTCTCCCCAAGTGTCCTGCTGGGCTGGTTCATCTGCTAAAAGGAGGCCACAGTCTCAGGGGTTCAGGTGGACAACAGAAGCACAAAGGATGTATATCTCTTGCTTCCTGGGAAGTATCTCCTTGCAGAAACAATTCAACTCCCTTCCCAGGCTTCTAAATGTGGGGAAGGGGCCAGGACTTGAGCCTGAAAGATCTTCCTTTAAGTCTG
|
benign
| 13,197 |
Assess the variant on chromosome 1, position 111982044, impacting KCND3 (potassium voltage-gated channel subfamily D member 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Spinocerebellar_ataxia_type_19/22']
|
TGAGGTCCCCTTCAGGAAGGTGAAGGGATGGCTAGGGTCAGCCTAAAAGGGATAAAGACGACCTCTTGACAGCACAAGCTCTCCAGTCCATTTTATCTCCAAAATACCCCACTGTGCCAAAAAGCCCACATCTGCCACCTGAGCCAAGAGAAACAAGGTCAAATGACCAAACATTCTTACCCACTCTGGGTGAGCAGCCATTTGAAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTGGAGTGGGAGGAAGGGGCAGGGTGGTTCTGTCAGACAGATAAGAAGTAAAGGGAATGCCCCAATCAAATGTGGCCTTCACAAATGGATGGTGACACCCTTGCTCTTCCCCTTGCTACTCCCTCCCTCTTGTGTGTGGCAGAATGACAAATGTAATCATTTTAAAAGGTCTCGTCACCTGCTCAGTCATTCCCAATAAGCATACGCAGCACTATGGAAAAACCAACACTATTGCCTCTGGGTTTTGGCCAGGAAAAAAAAAAATCAAATCACCAGGACACCACCAACCACACTGTCAAAGACAAAATAAAAAGCTTCATGAATTCTCCATCAGCAATATAACGCTTCCTAGCCTAAGCAAATATAGACCCAGTATATGAATTGTGGAGGGATTTTGCATTAGGCTCCATGGTTTCTAATAGCTGAGGCAGAAACCCCTAAGAAATCTATGTTTCCATAAAGCCACCTTTATTGGCTATAATCCTGCTAGGGTGAAGACTGTAATCTCCTTCCTGAGCCCCCTTCCTCTGATGGAAAGCTTCACATCCCAGCATCATGAATACATTTCTGTGACCTCAGCTGGAGAGGAGACCTCGGAGAGACGGAATTACCATGACCTCACCGAGCACCTGTCCCTCCTTCTGATGATATTGCTGCTTCTGTGTCTGACCACATGATCCATTCAGACCATCTCACAGTCACCCAGGTCATTCAATCACTGACTCAGACTAAAAAGCAAGACTGATACTGCTTTAGAAAGAAAGAATAAACCACGTGCCTTACTGCGAAAAATCCAGGTTCAGAGTCACTTAGAGAAAGTCTGCTCAGAGCTACTGAACGCTTGAGTGTCTGTGGCAGCACAGGAGAAAAGCATAACAAATGGGAAAATGGCCTGCAAAATATACTACAAAGAAAAAATGCAGAAAGGATCCAAAAAGAGTGCTCTTGGTGTCTTCTGGTAATGGACATCTGAACCCTCCGAACTTCTCAACAGTCTCCTCCCTCCCCAACAACTGCCCTGACCTTCTCCCCACGCTGCCCCATATGCGCAAATGCATATACAAATGCAGACATCACCTCACCCCGAGACTTCACACGCACACAAGGCATGGCTGAAAAAAGAATTGGTGACTTAATTTTCTTAGCTCTATAAAACACATGCCCCGACCTCAAAAAGAAAACTCAATTCCCAGCAAGCTACCACCCCCAAACAGATGACTCATGGGCTTTACCCTTCGGATAGAGCAACTTCCCCTGCCCCCAACACTTGGGTAAGGGACTCCCTCCTCCTCTACCCATGGTGACACCATCCAAGGTTTCAGAGGTCATCCAGCTGCCCTCCAACCTCCGTCCTGGTTTCATCCACCAGCGCTGACTTACCCCAGTGTGGTCATGGTGACAATGGTGTACCAAAACGAGGCAGGGATGCTTGTGAACTTGCTGGCCGAGGAGCCCTTCTCGGCATAAAACATCACAGTGGCAAAGATGATGATGGCCATGGTGAGGGAGAAGAGAAGAAAGCCCAGTTCGGAGGCACAGCTCTTCAGTGTGTAGCCCAGGATCCGCAGGCCCTGGGAGTGGCGGGAAAACTTGAAGATCCTGAAGACGCGGAAGACCCGGAGCGTGACGAAGGCGCCGGACACGTCCTCGTTGTTGGTCATGACCAGACCGATGTAGTAGGGCATGATGGCCACCACGTCGATGATGCTCATGACGCTGCGGATGAAGCGGTAGCGGCTGGGAGCCGCGAAGAGCCGCAGGAGGTACTCCACGGTGAAGATCATGACGCACGCCGTGTCCAGGCAGAAGAAGGCCACCGAGTAGCGCTCCCCGCACGGCAGCTCCTTGCTGCCCGGGACCGTGCCGCACGGCACCGTCTCCACCACGTTGGTGATGACCGAGACAGCGATGAAGAAGCCAGTCACGTAGTAGAAGACCAGGGCCAGCGTGCTGGTGTGGGGGTTCTCGAAGGCCCGCCACATGGTCTGGCGGAAGCTGAGCGAGGGCATGGACTCCTGGTTGTTCTCCGAGTCGTTGTCGTCCATGAGCCGCTCGGCGTTCTCCCTCTTGCGGTCCTTGTACTCCTCGTAGCAGCAGTCCCCGATGATCTCCGGGAGGATGCCGTAGAAGGCCAGCTCGTCGTCGTAGGCAGAGATGCACTCGTAGCGCGGGTAGTGCAGCTTCCCCGTGCGGTAGAAGTTGAGCACGCAGCGGAACACCTCGGGGTCCCGGTCGAAGAAGTACTCCTTGGTGTCCTCGTTGAAGAAGAACTCCTTCTCCGTGCTGCCCAGCAGGGTGTCCGGGTAGCGCTCCAGCGTGGTCCTCCAGGTCTGGAACCTCCGCCCACTCACGTTGAGGACAATCAGCTCATCCTGCCGCTTGTTCTTGTCGGCCGGGGCCAGGGGCATGGGGCAGTTGGCCACCGGCATCCACCCGATGGCCGCAGCCCGGGCAAAAGGCAGCCAGGCCGCAACTCCGGCCGCCATGGTGACTCCAGCTCTTGGGCCGGCAGCCGCGCGGACGCTAGGCACACCAGCTTGGAGTTAGTTCAGCAAACCCTGGGAGACAGGAGGGGAGAGAGAGAAGCGGTGAGTCCATATCGACTGGCAGGTAAGAAATGGGACACAGGAAAGGATCACTGGTGAGTGAAACGGCCAAAGTCTCCAGGGCAGATTAATAAAACTGAAATCCCCACCACAGAGAGGGGACTTGATTCTTTGCCATCCAGACACTGGGAGAACACCTAGCTCCTGGAGCTCGGCAGGGTGGGATCGCCAGATGTTGCTGACTGCCTGACAAATCGTCAAGCTCCAAGAGGGCTCAAGAGCATTTGGAGGGAAGGCCTCTTTAGCAGGAAGATCTGGCAAGACGTGGGTAATAATCAGCTCTGAAAGGTTATGGCGTTATTACCAATTTAAATTGGGAGAGGGTAGATGAGTTCTCATTAAATGAATTTAAAAGTGGGATAAACATGCTAATTTTTATTTCACTCTTTCACCCACTGGGGTAATCAGGAACGGGGTGTAGATGAGTGAGATCAGGTAAACAATTCTTTCTACTCCTCCCTAGTGAGGAAGAGGCTGGGGCTGCCCAAGTCCAGAAAATTCTCTGAGATGGCAGGTGACCACCAGGATTGGTGAGGTTCTGTCCCCAACTCCCATGGAGAAGGCTCTCCCTGGCAAAGTGCTACTCTGAGGGACACTTAGCCCCTACTCCTTGCCCTAGCAACCTAGTATCAAATTTTTCCCCTCAGACCCTCAGAGCCATGATGGAAAGACGTGGGAAGGGTTGTGAGGCTGGGCAGGGTCTCTTTCCCTGCTCTGTGAAGGGCGTCTTGGCTTCTTGGTTCACCTGACTTCCATGCATCGTCTCTCTCCCTCCCCAGAAGAAGCCGATCCGCGCTCACTGCCGTCCCTAGATTCCTCTCCTCCCATCTCCATCTGCCCACCATCCATAACTCCCTCAGGTTATATAACAACACTCCTTCCCATACCAGCCTCTCTCACCTGGTCCCCACTCCACCCTCAGAGATTTTTCCAGAGCCAGGCTACCCTGTCCCTTCACCTCTCTAAACCACACTGCATAAGCACTTCCCCATTACCTGTGTGGACAGAGGGAGCAATGGCACGGAGAATTATATTTGGCTTTGGGAAGCAGATTTACCTTCCCAAATCTGGCTTTTTAAAGATGATAGTGAAATCACTCTGCAGTCCCCAAATGTATACCATCTGTGGGAAGGCATGTGGTGACACGGAAACACACGTAACAGAAATTGGAAATTGTTTGGGGTTGACACACTCATCTCCACTAATCCTAAACTGATCACACAGAACAAATCCTAACTTGGAATT
|
TGAGGTCCCCTTCAGGAAGGTGAAGGGATGGCTAGGGTCAGCCTAAAAGGGATAAAGACGACCTCTTGACAGCACAAGCTCTCCAGTCCATTTTATCTCCAAAATACCCCACTGTGCCAAAAAGCCCACATCTGCCACCTGAGCCAAGAGAAACAAGGTCAAATGACCAAACATTCTTACCCACTCTGGGTGAGCAGCCATTTGAAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTGGAGTGGGAGGAAGGGGCAGGGTGGTTCTGTCAGACAGATAAGAAGTAAAGGGAATGCCCCAATCAAATGTGGCCTTCACAAATGGATGGTGACACCCTTGCTCTTCCCCTTGCTACTCCCTCCCTCTTGTGTGTGGCAGAATGACAAATGTAATCATTTTAAAAGGTCTCGTCACCTGCTCAGTCATTCCCAATAAGCATACGCAGCACTATGGAAAAACCAACACTATTGCCTCTGGGTTTTGGCCAGGAAAAAAAAAAATCAAATCACCAGGACACCACCAACCACACTGTCAAAGACAAAATAAAAAGCTTCATGAATTCTCCATCAGCAATATAACGCTTCCTAGCCTAAGCAAATATAGACCCAGTATATGAATTGTGGAGGGATTTTGCATTAGGCTCCATGGTTTCTAATAGCTGAGGCAGAAACCCCTAAGAAATCTATGTTTCCATAAAGCCACCTTTATTGGCTATAATCCTGCTAGGGTGAAGACTGTAATCTCCTTCCTGAGCCCCCTTCCTCTGATGGAAAGCTTCACATCCCAGCATCATGAATACATTTCTGTGACCTCAGCTGGAGAGGAGACCTCGGAGAGACGGAATTACCATGACCTCACCGAGCACCTGTCCCTCCTTCTGATGATATTGCTGCTTCTGTGTCTGACCACATGATCCATTCAGACCATCTCACAGTCACCCAGGTCATTCAATCACTGACTCAGACTAAAAAGCAAGACTGATACTGCTTTAGAAAGAAAGAATAAACCACGTGCCTTACTGCGAAAAATCCAGGTTCAGAGTCACTTAGAGAAAGTCTGCTCAGAGCTACTGAACGCTTGAGTGTCTGTGGCAGCACAGGAGAAAAGCATAACAAATGGGAAAATGGCCTGCAAAATATACTACAAAGAAAAAATGCAGAAAGGATCCAAAAAGAGTGCTCTTGGTGTCTTCTGGTAATGGACATCTGAACCCTCCGAACTTCTCAACAGTCTCCTCCCTCCCCAACAACTGCCCTGACCTTCTCCCCACGCTGCCCCATATGCGCAAATGCATATACAAATGCAGACATCACCTCACCCCGAGACTTCACACGCACACAAGGCATGGCTGAAAAAAGAATTGGTGACTTAATTTTCTTAGCTCTATAAAACACATGCCCCGACCTCAAAAAGAAAACTCAATTCCCAGCAAGCTACCACCCCCAAACAGATGACTCATGGGCTTTACCCTTCGGATAGAGCAACTTCCCCTGCCCCCAACACTTGGGTAAGGGACTCCCTCCTCCTCTACCCATGGTGACACCATCCAAGGTTTCAGAGGTCATCCAGCTGCCCTCCAACCTCCGTCCTGGTTTCATCCACCAGCGCTGACTTACCCCAGTGTGGTCATGGTGACAATGGTGTACCAAAACGAGGCAGGGATGCTTGTGAACTTGCTGGCCGAGGAGCCCTTCTCGGCATAAAACATCACAGTGGCAAAGATGATGATGGCCATGGTGAGGGAGAAGAGAAGAAAGCCCAGTTCGGAGGCACAGCTCTTCAGTGTGTAGCCCAGGATCCGCAGGCCCTGGGAGTGGCGGGAAAACTTGAAGATCCTGAAGACGCGGAAGACCCGGAGCGTGACGAAGGCGCCGGACACGTCCTCGTTGTTGGTCATGACCAGACCGATGTAGTAGGGCATGATGGCCACCACGTCGATGATGCTCATGACGCTGCGGATGAAGCGGTAGCGGCTGGGAGCCGCGAAGAGCCGCAGGAGGTACTCCACGGTGAAGATCATGACGCACGCCGTGTCCAGGCAGAAGGCCACCGAGTAGCGCTCCCCGCACGGCAGCTCCTTGCTGCCCGGGACCGTGCCGCACGGCACCGTCTCCACCACGTTGGTGATGACCGAGACAGCGATGAAGAAGCCAGTCACGTAGTAGAAGACCAGGGCCAGCGTGCTGGTGTGGGGGTTCTCGAAGGCCCGCCACATGGTCTGGCGGAAGCTGAGCGAGGGCATGGACTCCTGGTTGTTCTCCGAGTCGTTGTCGTCCATGAGCCGCTCGGCGTTCTCCCTCTTGCGGTCCTTGTACTCCTCGTAGCAGCAGTCCCCGATGATCTCCGGGAGGATGCCGTAGAAGGCCAGCTCGTCGTCGTAGGCAGAGATGCACTCGTAGCGCGGGTAGTGCAGCTTCCCCGTGCGGTAGAAGTTGAGCACGCAGCGGAACACCTCGGGGTCCCGGTCGAAGAAGTACTCCTTGGTGTCCTCGTTGAAGAAGAACTCCTTCTCCGTGCTGCCCAGCAGGGTGTCCGGGTAGCGCTCCAGCGTGGTCCTCCAGGTCTGGAACCTCCGCCCACTCACGTTGAGGACAATCAGCTCATCCTGCCGCTTGTTCTTGTCGGCCGGGGCCAGGGGCATGGGGCAGTTGGCCACCGGCATCCACCCGATGGCCGCAGCCCGGGCAAAAGGCAGCCAGGCCGCAACTCCGGCCGCCATGGTGACTCCAGCTCTTGGGCCGGCAGCCGCGCGGACGCTAGGCACACCAGCTTGGAGTTAGTTCAGCAAACCCTGGGAGACAGGAGGGGAGAGAGAGAAGCGGTGAGTCCATATCGACTGGCAGGTAAGAAATGGGACACAGGAAAGGATCACTGGTGAGTGAAACGGCCAAAGTCTCCAGGGCAGATTAATAAAACTGAAATCCCCACCACAGAGAGGGGACTTGATTCTTTGCCATCCAGACACTGGGAGAACACCTAGCTCCTGGAGCTCGGCAGGGTGGGATCGCCAGATGTTGCTGACTGCCTGACAAATCGTCAAGCTCCAAGAGGGCTCAAGAGCATTTGGAGGGAAGGCCTCTTTAGCAGGAAGATCTGGCAAGACGTGGGTAATAATCAGCTCTGAAAGGTTATGGCGTTATTACCAATTTAAATTGGGAGAGGGTAGATGAGTTCTCATTAAATGAATTTAAAAGTGGGATAAACATGCTAATTTTTATTTCACTCTTTCACCCACTGGGGTAATCAGGAACGGGGTGTAGATGAGTGAGATCAGGTAAACAATTCTTTCTACTCCTCCCTAGTGAGGAAGAGGCTGGGGCTGCCCAAGTCCAGAAAATTCTCTGAGATGGCAGGTGACCACCAGGATTGGTGAGGTTCTGTCCCCAACTCCCATGGAGAAGGCTCTCCCTGGCAAAGTGCTACTCTGAGGGACACTTAGCCCCTACTCCTTGCCCTAGCAACCTAGTATCAAATTTTTCCCCTCAGACCCTCAGAGCCATGATGGAAAGACGTGGGAAGGGTTGTGAGGCTGGGCAGGGTCTCTTTCCCTGCTCTGTGAAGGGCGTCTTGGCTTCTTGGTTCACCTGACTTCCATGCATCGTCTCTCTCCCTCCCCAGAAGAAGCCGATCCGCGCTCACTGCCGTCCCTAGATTCCTCTCCTCCCATCTCCATCTGCCCACCATCCATAACTCCCTCAGGTTATATAACAACACTCCTTCCCATACCAGCCTCTCTCACCTGGTCCCCACTCCACCCTCAGAGATTTTTCCAGAGCCAGGCTACCCTGTCCCTTCACCTCTCTAAACCACACTGCATAAGCACTTCCCCATTACCTGTGTGGACAGAGGGAGCAATGGCACGGAGAATTATATTTGGCTTTGGGAAGCAGATTTACCTTCCCAAATCTGGCTTTTTAAAGATGATAGTGAAATCACTCTGCAGTCCCCAAATGTATACCATCTGTGGGAAGGCATGTGGTGACACGGAAACACACGTAACAGAAATTGGAAATTGTTTGGGGTTGACACACTCATCTCCACTAATCCTAAACTGATCACACAGAACAAATCCTAACTTGGAATTNNN
|
pathogenic
| 13,244 |
A genetic variant at chromosome 1, position 112917655, affecting gene SLC16A1 (solute carrier family 16 member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Ketoacidosis_due_to_monocarboxylate_transporter-1_deficiency', 'Metabolic_myopathy_due_to_lactate_transporter_defect', 'Monocarboxylate_transporter_1_deficiency,_autosomal_dominant']
|
AACTGATACAGGTAGACCAGTTAGGAGGTTACAGTTAGGAGCAGCCCAAACAGGAGACAGGAGCTTTGGATAAGGGTAGTAGTTGTGATGGAGAAAAATGGGCAGATGAGAACAAGATTTAGAGCATAAAAACTCATAGAACTTAGTAACTCACTGGGTATGAGATGGAAGAAGACAGTGATCTCAAAAGGCAGCTATGGATCTTCTGTTATATACTCACTCACTCCCCAAATCAAAGTTCCTAAAGTATGAGTCACATCCAGAAGAAGGGTCAAATTATTTTTTCACTATGTGTTATGTATTGAGCTATTAATTTGAAAGATAAAGTATTCAATAACCTTCAGGAATAGTTCCCAAGTTGTAATTAATTTTCTAGCTGTATGATTTTAGCCAAGTTATTTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCA
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AACTGATACAGGTAGACCAGTTAGGAGGTTACAGTTAGGAGCAGCCCAAACAGGAGACAGGAGCTTTGGATAAGGGTAGTAGTTGTGATGGAGAAAAATGGGCAGATGAGAACAAGATTTAGAGCATAAAAACTCATAGAACTTAGTAACTCACTGGGTATGAGATGGAAGAAGACAGTGATCTCAAAAGGCAGCTATGGATCTTCTGTTATATACTCACTCACTCCCCAAATCAAAGTTCCTAAAGTATGAGTCACATCCAGAAGAAGGGTCAAATTATTTTTTCACTATGTGTTATGTATTGAGCTATTAATTTGAAAGATAAAGTATTCAATAACCTTCAGGAATAGTTCCCAAGTTGTAATTAATTTTCTAGCTGTATGATTTTAGCCAAGTTATTTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCANNNN
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pathogenic
| 13,303 |
Determine whether the variant at chromosome 1, position 112918054, in gene SLC16A1 (solute carrier family 16 member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
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benign
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TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAA
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TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAANNNN
|
benign
| 13,304 |
Is the genetic mutation found on chromosome 1 at position 112918054, within the gene SLC16A1 (solute carrier family 16 member 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAA
|
TTCACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAANNNNNNNNNNNNNNNN
|
benign
| 13,305 |
Clinical significance of chromosome 1, position 112918057, gene SLC16A1 (solute carrier family 16 member 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
ACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCAACTG
|
ACCTTTTGAAGCCTCTGTTCACTTACAAAATGGGGACTTAAAACGGTCCTACCTCATATGGACTTGTGAGATACAACAGGAGATACAAAATGATAAGGACAGTCTCTGGTACACTGTGAGCTTACATGGTAGCTATTATTATACTACTGCTACTGAAATAAACTTTTTTTTTTTTTTTTTGCTTTTTGTGTGTTTTTAAAAAATTTATGGATCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGACCACCTGAGGTTAGGAGTTCAAGACGAGCCTGGCCAACATGGTGAAACCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGACCAAGACTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAACTTATGTGAAATATACTTCATTTTTAAAATGAAATAATCACTAGCGCTTTAAAGATTGGGTTGTTTTTCTACATGCTTTTCTACACTAAGCACATCAGTTTTGCGATCAGAAAAAAACATATTTTAGGCCAGGCACAGTGGCTCACACCTGTTACCCAGCACTTTGGGAGGCTGAGACAAGTGGATCGTTTGAGGTCAGGAGTTAGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTATTAAAGATATAAAAATTGGCCAGGCATGGTGGCATGCATCTGTAATCCCAGCTACCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAGAAAAAACACTGACATTTGTAACAATATTTGATCCCCCTTTTGCCTTGATGGTTCCATTTAATTAGATTCTATATTTGAGCAATTATGCTGTGCCAAGCATTGTCCCAGCATCAAGGGTACATAAATGAGAAAGATTTATTCTTACCCAAATAGCTCACTAATGTTTGCTTTCTGTCAGCATTCCCATCTTACATGCTTGTTTTGTAATAGACCCACATTAGTAGGGAGATATACTATACCTAAAAGTGGTGGCCCCAGGAGGACAGGACAGCATTCCACAATGGTCACCAATCCCACAGCGCTGGAGAACCTCTGGGGTCCAACAAGGTCCATCAATGTTTCAAACAATACGGAGCTGAGCCACCCGAAGGCAAATCCAAAGAATCCCGCATAGACACAGAATCCAACATAGGTAGTGGATAAAGGTGCTAGCATATGACACACTCCATTTGCAACAACGGAAGCCGCAAAGAAATACTGAATTCGAGGTCTTATTGGCTTTGTGTTGGCTACAAGTCCCATAGATGGTCGGGCTACCATGTCAACAAAAGCCAGAATGGAAAGAAGGAAGGCAGACTTCTCACTAGAATAATGCTGACTCTTCCCATAACTACTAAGAAACACCAAAGGTGCAAAGAGTCCAAAAAACATGATCACATTTCCAGAGAGGTATAGCAAAAAGCCTCTGTGGGTGAATAGGGTTAAGTCCAGGAACTGATTAATTGTTTGGAAGACTGATCGTTTCTCTTGTTTAGGGTGTCTTCCAATAAGATCTGTATTTGCATCATGCAGATCTTTTTTCACACCAGATTTTCCAGCTTTCTCAAGGGATGCTTTAGACTTATCTTTCCCTGCCTTGGTTGGCTTGGGCCCGATTGGTCGCATGAGGGCTCCAGCAACACAGCAGTTTAGTAGCAAGCCCCCAAGAATTAGAAAGCTTCCTCTCCATCCAAAGATACCGAAGAAAACCTGATTGAGGGGGGCCAGAGTACAGAGGAACACAGGGCTGCCTGCCATGGCCAGTCCGTTGGCCAATGGTCGCCTCTTGTAGAAATACTTGCCAATCATGGTCAGAGCTGGATTCAAGTTGAAGGCAAGCCCAAGACCTGTGAAGACAATAAAGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAGAGGTATAAATAATGGAAGGAATAGGATATAAATCCTCATTATTAGAGGACATGTTATGTAGTGGTTTAAAGTATGACTTCTAAAACAGACATGGGTTCAAATCTCAGTATCAGTGCTTACTGGTTGCATAATCTCAGACATGTATACCCTCCTATGACTGCTTCCTAATATGTAAAACGGGCACAGGTCACTGTTGTGAGGAAGAAAAGATTTGTTAAGCACTTAGTACCCAGTGCCCAGTATGTAGTAAGCACTTAATACATGTTATTTTTATTATTGTTGTTTTTATTATTTGAAGGTGAATAACTATTTTGTCTAATCTAACAAAATCACCGGAAGGATTATTATAACCATATAAGATCATTAAGTCGACAGTAGAGATAAAACAAATTTACACTAGAAAATGCATAAGGCCAGCTGCAGTGGCTCATGTCTATAATCCCAGTGCTTTGGGAAGCCAAGGCGGCAGGATTGATTAAGGCCAGGCATTCAAGACCACCTTGGGCAGCATAGCAAGACCTGTCTCTACAAAAAGTAATTCGAAAATTAGTCAGGTATGGTAGTGTGTGCCTGCAGTCCTAGCTACTTGGGCGGCTAAAGCTGGAGTATCACTTGAGCCTAGAAGTTTGAGGCTATGGTGAGCTATGATCACACAACTGCACTCCATCCTGGGCTACAGAGAAAGAACCTGTCTCAAAAACCCAAAAACGAAAGAAATAACATATAGTACAAAATGATCCCTTCCACTATAGCACCAAAACTTAAAAACAGGCCAATTCCTAAGACTCCAATTGTGAAACTTTCCTGAGAGATCAGAGAATTTAAAATACACACAAAGTTTTGGGAAAATAAAACACAACATTGCTAAGATGCCAAGGCTCCTGAAATGAATGTACTAATTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTCATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCCTGAATGTACTAATTTAATGCAATCCAATGAAAATGTCAGTGAATTTTACTTTCGGATTAAGGTAAATGATTCTAAAGGATACTTACAGAACAAATACAGAGCTACTAGGAAATTTTTGATGGTGCAGAGGAAAAAGTGGGACCAACCAGAACAAATTATTTAAATGGCTTTACAAAAGCTACAGTCATTAGAGCAGTGTGGCCCTGTTTCAGGAACCAGTAAAAATTCGTCAGTGAAAGTGCAGAAACACTATAGAAAGTCCAGGAACAGAGTTGAAATACATGGAAACATTTAATGTAAGATAAAGTAGCATTTTAAATTAATAGAGAGAAATTATTCAATAAATAGTGCTAGCAAAAGTAATATTCAAAGAACTTCCTCCCTGACCTCATAGCAAACCATTCTTACATTTGTTAATAAGCTCTACGGTCTATGATCCCTTACATTTTCACAAATCTGGTTCCCTGTTGTTATGCAGGTCTCTACTTAAAGTTGATTCTTCAGTGAGCCCTGACCTTCATTGCTTGCCCAGTTCTTCCCTGTCACAACACTCAGTTAAAGGCTTTATATAGCATTTATCACTACCTGATATTTTTCTTATTTATTAATTTATTTATGAGTTGTACTGTTTGTCTCCTCCTATTAAAGAGTGTAACTGCCTGACTTGTTGCTCTATCTCTACAGCACCTAAAATGGTTCCTAACACACATACAGTTGTTGCTCAATAAATATTTCATAAATAAATTAATAAAAGAGCAAATGAACCA
|
benign
| 13,306 |
Clinically, how would you classify the variant at chromosome 1, position 112956232, gene SLC16A1: benign or pathogenic? If pathogenic, specify the associated illness(es).
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benign
|
TCTTAATCTTGCATAGGAGTGAGCATTATAAAGTGAATTGAAAACACGATGGGAATGCAGAACATAAGGAGCTGAGAAATCTATTTTCAGGCTGAGATAATTTGTATCCAAATTTACAATCTAAAGAAAAATCAGGAGTGCCAATCTAACAAAAATGAGTCCAAAGACACACATAGTTCCCACCAAACCATAACAAGTTTTCAGACCTAAGATGTTAGATCACTTAATCCCTCCAGCCCCAGTTTCCTTATGTGTAAAACAAGGGATCCTGATCAGCTGGTCATTAGGATCCTTTCCAGGGCTAATATATGCCCTAATATTTAAAGGCTAAAACATGTAAACTAGTGAAATACTAATCATTTGCTTTCATCCTATAGTGATATGACTTTTTTCCTTTTTAATCTGTTTAAGGACATTACAGTCTATCCCGTTAAGCTTACAACTAAACCTTCAAATCTATTCAGCTATAAAAATCTTACAAAATGCTCCTCAGATCATTAACTTGCATATTTAACAATGGTAACTGCAATCTGATGAAACAACAGCATCTACCTAAGACCAAAATGAATTACTGAAATATATTCAACTTCTGTGTAAATAATAAATCTTACCACGTGTTTTAAGTGCTAAATATCTTGAATTGTTGGTCATTTCTATGGCAATCTGAAGGCAAAGTCGTGCCCCAGGGTGTAAGACTTGAATTTATGGGTACTATTTAACACCTAACTAAAAAACTGAAGATACATAGTCTTTGCATCACCTCACTGGGCTGGTGGTTGGGATAAAAAAATTGTTGAAACCAGAGTAATTTTTGAAAAAAAAATTCAAAACAAGTTATAGTAAGTTACAGTAAATAAAGTAGCTTAGTAAGTTACAGTAAATAAAGTAGCGTGTAAACATTTTACTGTTATCAGTAGCAGCCCAGTTTCTAATCAGCCACTGGAAACCCAAAGAAAGACTAAAGTAGTAACAAGTTTGTCTCCTGGTTTAGATTAATTACAAACTAGTTTTGGCAACTGCTTGTTCCATCAAATATGTCATGACAAAGTAATAAAATGTTAAAACGCATGCTGGAAAAAAAAAAAGACGTACTTGGAACAAAAAACTTGCATCGGACCAAGTGTAACGCTATCCTCCAGATTTCTCTCAACAGGGCCGCCTTAAGTCCATGAGTAGAAGGGCGCTGCGGCGGACGCTGGCAGCCACAGGTTGAATGACAAAGAGCCCCCGTCAGCACCACTCCCAGGAGTCTGCGGGCTGCCCCGTCCCCTCCGCAAAGTCTACTCGAACCCTGCAGTCACGCCTTGGCTGTGGGGAATGCGGCTCTCCGCACCACTCTCGCAAGTCACCAGGTGGGGCAAGGATCGGCGGGCCAAGAAGGTTGGGGCGGACAATGTCACGAATCATAAATAACTTCTGCCCCGAGTCCCTTCCCTTGGGGCAGAAGCGGCCAGGAGAGTCTGGAGGTACCACATGCAGCAGCCTCATGTTATCCCTTTTCCAGATCAAAGCATCTCTCGAGGAGCCTATTGAAGACTTAGGGGGGAAGGGACTTCCCCACCGTCACCGGGCACCACGACCCAACTCCTCGGCCAGGCCTGGGACCGGCATCTTAGCACGGGGCCCGCGGCTCGGCTAAGAGAGGCGCTGACCCCAGCGCCTCAAGGTCTCCTTCACCAGCACTGCAGTCCGAGGCCACGCGGCTGCCTGTGACCACGATGCCCTCTGCTGGGCCGCCTCCCTCCGCCGGAGACAAAGTCTCCCAACCCCGGAGGTCCCCTCCGACCCCACCAGGGCAGCGAGGGCACCGTGGGGTCCGCGCCGCGTGCCGCCGGCTGTTACCCAACTAACCGTTATATGCGCGGATCGCAGCGCCGAGCGTGTGCGTGACGTGGTGGCGCAGGCTGGAGTTCCACGGGGCCCAGGGTCCGGCTCCCGTCCTTCGCTCGCTGCCTCGTTTGCTTGTTCCAGTACCCACGCAGCTAGCCAGTCACGTCGCAGCTCACCACTTTGTCTGGCCGGGCCAGCGAGGCTGCCTTATAACCCGCCGGGGCCGGAGCATGCGCGCAGGGGGCGGAGTCGTCTCTCCCGGCCGCCGCCCCCTCCCCGCCACACAGACATCCGAACTGCAGCCCGCGCCTCCACACGCTTTCAGCCGCGCGCGCCCTCTAGCTCGCCCGCGCGCGCCGGCGCCCCCTCCCCGCCACGTGACCGGCGTCCCAGTCCGACCCGCGCGCTGCGCCCCTGCTGAGCGGCGCGGAGCTACCACGCCCTGCCAGACTCGCCCTTGGGTCCCTGTCTGACGAGCTCTAGGCAATCTGCCCTCGTTCGGGACACAACCATCGGTCTCACCCCTCAGTTTCTGCCAGAGAAAAAGGAAAAGTCACCGAGAGGCCTGACCCTGACGGGTGGGGGAGATGCGCGTGCGGAGTAGCGGGAAGCGACTGAGGAGCGGGGAATGGGCAGCATTTGAATGGATGCGGGTGCCGCTGGCACCCGGGAAGACGCTGGGGGCCGGCGCTGTAGAGCCGGGCATGGGCTGGGATGTGTTTGGATTCCAATCCGGGCCTGACACCAGTTCAGTGACCTCGGGAAGTTCCCCAACCCTCCGGGCCTGTTTCCTCCCTCTGAAGTGGCGACAGTAGTAGAACCGACCTCGTAGGCTCATCGGGAGGTCCTGATGGGAGAACCCATGCAACTTGCCACCATAGAGCCAGGCCCGCGGCGGTTGGCGCCTGGTGGGTATTAAAGACGAGTCGGGAAAGAAGAGCAGGTAAGAGGGTGGGGAGACTGGCCCAGTGGGTTGGGGTGTGCACCTCGGCCACGTGGAAAAGCGAGAATGCAGAGGCCGGACGCTTATGGACGATGCATATGTGGGGCCGGATAGAATTGTGGCAGGCGGCGCTGGGGCTGATGCTCCTCACCCGGATTATCCTCTCTAATCCTCAGCCCTGTGAAGTGGGCACTGCCCTGAACATTTTGTAAATAAGGGACCCGAGGCTCAGAGAGGTGAAGTAACTTTCCAGACAGCCCAGCTCGTCAGCGGCCAGCATTTGAAGTCACACTCCAGAGCCTGTTTTTAACATAATAGCCGCTGTGACCGCATAACCAACGTGTGTGTTGAAGTGATCAAATAACCATGGAGTGTCTTTGATGTCCAGGACTTTTGAGAAATACCGAAAAATATGAGGCAAGGCCCCTGCCTTCAAAGAGCTTGCAAGTTTTTGGGGGAGACTTAGGCACAAATTAACCAACATCTGTTGAGCACTTGCTGCTTGCCAGGACCCTGCCCTTCCCCTCGTGTCTTCCTCCCTTCCAGGACTCACCCCCTCACTTACCCTCCCCCTCACTTACCCTCCCCCTCAATTCTCACAGCAACCCTGGGAGGTAGGCCTTATGGTTTCTGTTTTGCAAATGAAGAACCTGAGATTGAAGAAGAGTAGAGATTGGAGGATCAGATCCTGAGAGGTCCCATGTGCTTTCCAATAACAGTTCAGTATATTAGAAGACAGTGTGGCATCCACGGCCAAGTACTACTAGTGAGTAATACAGTAATTGCTTTTTACATTTGATAAACACGGAGAAAGGGAAGGCATTTCGGGTCATTGGGGCAGCTAGGACTTATAAGAGCAGTGCTAGGGTGGCAGCAGCATTCAGGTAGATGGTAAGGAGAATTAAGTTAGAGAGACAGGATCCTCAGTCTGGTTCAGAAGTAAATATATAAGGGCCTGTTCTATGGAATGTAGTGAGAAGTGGTTAAATAAGATGAATCCCAGGAAACCTCAAAAGAAGGCTTATAGAGCCCCATAGGGTGGTAGATTCACACTATAGACCTGAGAGCCAGATCTGTTCAGTTCCAAATTTGATTCTTGCACTTACCAGCTCTGTGTCCTCAGGCAAGTCATTTTACCTTTCCAAGCCTCACTCCCAACTCTGTAAAACAAGGATAATACCTACCTCAGGGTTATTATGATAATAAAACTAGTATTTATTTCAGGCCGGCGTGGTGGCTCAACCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGATTTTGAGACTAGCCTGGCCAACATG
|
TCTTAATCTTGCATAGGAGTGAGCATTATAAAGTGAATTGAAAACACGATGGGAATGCAGAACATAAGGAGCTGAGAAATCTATTTTCAGGCTGAGATAATTTGTATCCAAATTTACAATCTAAAGAAAAATCAGGAGTGCCAATCTAACAAAAATGAGTCCAAAGACACACATAGTTCCCACCAAACCATAACAAGTTTTCAGACCTAAGATGTTAGATCACTTAATCCCTCCAGCCCCAGTTTCCTTATGTGTAAAACAAGGGATCCTGATCAGCTGGTCATTAGGATCCTTTCCAGGGCTAATATATGCCCTAATATTTAAAGGCTAAAACATGTAAACTAGTGAAATACTAATCATTTGCTTTCATCCTATAGTGATATGACTTTTTTCCTTTTTAATCTGTTTAAGGACATTACAGTCTATCCCGTTAAGCTTACAACTAAACCTTCAAATCTATTCAGCTATAAAAATCTTACAAAATGCTCCTCAGATCATTAACTTGCATATTTAACAATGGTAACTGCAATCTGATGAAACAACAGCATCTACCTAAGACCAAAATGAATTACTGAAATATATTCAACTTCTGTGTAAATAATAAATCTTACCACGTGTTTTAAGTGCTAAATATCTTGAATTGTTGGTCATTTCTATGGCAATCTGAAGGCAAAGTCGTGCCCCAGGGTGTAAGACTTGAATTTATGGGTACTATTTAACACCTAACTAAAAAACTGAAGATACATAGTCTTTGCATCACCTCACTGGGCTGGTGGTTGGGATAAAAAAATTGTTGAAACCAGAGTAATTTTTGAAAAAAAAATTCAAAACAAGTTATAGTAAGTTACAGTAAATAAAGTAGCTTAGTAAGTTACAGTAAATAAAGTAGCGTGTAAACATTTTACTGTTATCAGTAGCAGCCCAGTTTCTAATCAGCCACTGGAAACCCAAAGAAAGACTAAAGTAGTAACAAGTTTGTCTCCTGGTTTAGATTAATTACAAACTAGTTTTGGCAACTGCTTGTTCCATCAAATATGTCATGACAAAGTAATAAAATGTTAAAACGCATGCTGGAAAAAAAAAAAGACGTACTTGGAACAAAAAACTTGCATCGGACCAAGTGTAACGCTATCCTCCAGATTTCTCTCAACAGGGCCGCCTTAAGTCCATGAGTAGAAGGGCGCTGCGGCGGACGCTGGCAGCCACAGGTTGAATGACAAAGAGCCCCCGTCAGCACCACTCCCAGGAGTCTGCGGGCTGCCCCGTCCCCTCCGCAAAGTCTACTCGAACCCTGCAGTCACGCCTTGGCTGTGGGGAATGCGGCTCTCCGCACCACTCTCGCAAGTCACCAGGTGGGGCAAGGATCGGCGGGCCAAGAAGGTTGGGGCGGACAATGTCACGAATCATAAATAACTTCTGCCCCGAGTCCCTTCCCTTGGGGCAGAAGCGGCCAGGAGAGTCTGGAGGTACCACATGCAGCAGCCTCATGTTATCCCTTTTCCAGATCAAAGCATCTCTCGAGGAGCCTATTGAAGACTTAGGGGGGAAGGGACTTCCCCACCGTCACCGGGCACCACGACCCAACTCCTCGGCCAGGCCTGGGACCGGCATCTTAGCACGGGGCCCGCGGCTCGGCTAAGAGAGGCGCTGACCCCAGCGCCTCAAGGTCTCCTTCACCAGCACTGCAGTCCGAGGCCACGCGGCTGCCTGTGACCACGATGCCCTCTGCTGGGCCGCCTCCCTCCGCCGGAGACAAAGTCTCCCAACCCCGGAGGTCCCCTCCGACCCCACCAGGGCAGCGAGGGCACCGTGGGGTCCGCGCCGCGTGCCGCCGGCTGTTACCCAACTAACCGTTATATGCGCGGATCGCAGCGCCGAGCGTGTGCGTGACGTGGTGGCGCAGGCTGGAGTTCCACGGGGCCCAGGGTCCGGCTCCCGTCCTTCGCTCGCTGCCTCGTTTGCTTGTTCCAGTACCCACGCAGCTAGCCAGTCACGTCGCAGCTCACCACTTTGTCTGGCCGGGCCAGCGAGGCTGCCTTATAACCCGCCGGGGGCCGGAGCATGCGCGCAGGGGGCGGAGTCGTCTCTCCCGGCCGCCGCCCCCTCCCCGCCACACAGACATCCGAACTGCAGCCCGCGCCTCCACACGCTTTCAGCCGCGCGCGCCCTCTAGCTCGCCCGCGCGCGCCGGCGCCCCCTCCCCGCCACGTGACCGGCGTCCCAGTCCGACCCGCGCGCTGCGCCCCTGCTGAGCGGCGCGGAGCTACCACGCCCTGCCAGACTCGCCCTTGGGTCCCTGTCTGACGAGCTCTAGGCAATCTGCCCTCGTTCGGGACACAACCATCGGTCTCACCCCTCAGTTTCTGCCAGAGAAAAAGGAAAAGTCACCGAGAGGCCTGACCCTGACGGGTGGGGGAGATGCGCGTGCGGAGTAGCGGGAAGCGACTGAGGAGCGGGGAATGGGCAGCATTTGAATGGATGCGGGTGCCGCTGGCACCCGGGAAGACGCTGGGGGCCGGCGCTGTAGAGCCGGGCATGGGCTGGGATGTGTTTGGATTCCAATCCGGGCCTGACACCAGTTCAGTGACCTCGGGAAGTTCCCCAACCCTCCGGGCCTGTTTCCTCCCTCTGAAGTGGCGACAGTAGTAGAACCGACCTCGTAGGCTCATCGGGAGGTCCTGATGGGAGAACCCATGCAACTTGCCACCATAGAGCCAGGCCCGCGGCGGTTGGCGCCTGGTGGGTATTAAAGACGAGTCGGGAAAGAAGAGCAGGTAAGAGGGTGGGGAGACTGGCCCAGTGGGTTGGGGTGTGCACCTCGGCCACGTGGAAAAGCGAGAATGCAGAGGCCGGACGCTTATGGACGATGCATATGTGGGGCCGGATAGAATTGTGGCAGGCGGCGCTGGGGCTGATGCTCCTCACCCGGATTATCCTCTCTAATCCTCAGCCCTGTGAAGTGGGCACTGCCCTGAACATTTTGTAAATAAGGGACCCGAGGCTCAGAGAGGTGAAGTAACTTTCCAGACAGCCCAGCTCGTCAGCGGCCAGCATTTGAAGTCACACTCCAGAGCCTGTTTTTAACATAATAGCCGCTGTGACCGCATAACCAACGTGTGTGTTGAAGTGATCAAATAACCATGGAGTGTCTTTGATGTCCAGGACTTTTGAGAAATACCGAAAAATATGAGGCAAGGCCCCTGCCTTCAAAGAGCTTGCAAGTTTTTGGGGGAGACTTAGGCACAAATTAACCAACATCTGTTGAGCACTTGCTGCTTGCCAGGACCCTGCCCTTCCCCTCGTGTCTTCCTCCCTTCCAGGACTCACCCCCTCACTTACCCTCCCCCTCACTTACCCTCCCCCTCAATTCTCACAGCAACCCTGGGAGGTAGGCCTTATGGTTTCTGTTTTGCAAATGAAGAACCTGAGATTGAAGAAGAGTAGAGATTGGAGGATCAGATCCTGAGAGGTCCCATGTGCTTTCCAATAACAGTTCAGTATATTAGAAGACAGTGTGGCATCCACGGCCAAGTACTACTAGTGAGTAATACAGTAATTGCTTTTTACATTTGATAAACACGGAGAAAGGGAAGGCATTTCGGGTCATTGGGGCAGCTAGGACTTATAAGAGCAGTGCTAGGGTGGCAGCAGCATTCAGGTAGATGGTAAGGAGAATTAAGTTAGAGAGACAGGATCCTCAGTCTGGTTCAGAAGTAAATATATAAGGGCCTGTTCTATGGAATGTAGTGAGAAGTGGTTAAATAAGATGAATCCCAGGAAACCTCAAAAGAAGGCTTATAGAGCCCCATAGGGTGGTAGATTCACACTATAGACCTGAGAGCCAGATCTGTTCAGTTCCAAATTTGATTCTTGCACTTACCAGCTCTGTGTCCTCAGGCAAGTCATTTTACCTTTCCAAGCCTCACTCCCAACTCTGTAAAACAAGGATAATACCTACCTCAGGGTTATTATGATAATAAAACTAGTATTTATTTCAGGCCGGCGTGGTGGCTCAACCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGATTTTGAGACTAGCCTGGCCAACAT
|
benign
| 13,314 |
Evaluate the clinical significance of the mutation at chromosome 1, position 113116443 in gene LRIG2 (leucine rich repeats and immunoglobulin like domains 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
CATTTTTTTTTTTTTTAATGTTTTCCTGTTAGAGACACCCTCATTTATTAGACCCCTGGAGGATAAGACAGTAACACGAGGTGAAACTGCGGTGTTACAGTGCATAGCTGGAGGGAGTCCTGCCCCTCGTCTCAACTGGACTAAAGATGATGGGCCTTTGCTGGTGACAGAACGACATTTCTTTGCTGCAGCCAATCAGCTTCTCATCATTGTAGATGCCGGGCTAGAAGATGCTGGGAAATATACCTGCATTATGTCTAACACCCTTGGGACAGAACGTGGCCACATTTACCTAAATGTCATTTCATCCCCCAATTGTGACTCTTCCCAGAGTAGCATTGGGCATGAAGATGATGGCTGGACCACAGTTGGCATTGTCATCATTGTTGTGGTCTGCTGTGTTGTTGGCACTTCTTTGATCTGGGTCATTGTTATTTACCACATGAGAAGGAAAAATGAAGACTATAGTATCACAAACACAGGTAAGTAGTACCCACATGACACCTATGGCTTGTACTTCAGTCAAGAATGTAGTATAGGATTAATTGTACAATATAAAAAACTGAGAGCTGGTCATAGTAGCACATGCCTGTACTCCCAGCTACTCAGGAGGATGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCAAGGCCCACCTGGGCAACATAGCAAGACCTCATCTTCCCCCTCAAAAAACTGAAGAGCTGTGATACATTACCTGATATGTGATAGAAGGGAGTTTTTGTTGTTAAAATGTTCAACTTCTTTGATATAACAGAACCTCTTTGAGGAATAGGTTCATAACAGAACCTCTTTGAGGAAAGAATTTTGTTTATTTGAGATAGGGTGTTACTGTAATGCCCAGGTCAGAGTGTATCGGTACATTCATGGCTCACTGCAGCGTTGACTTCCCAGGCTCAGGTGATTCTCCCATCTCGGCCTTCTGAGAAGCGGGGACTATAGGCATGTGCCACCGCGCCTAAGTTTTTATATTTTTAGTAGAGTCGGGTTTTGCCATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCTAGCAATTTGTCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGACCAATTTTAAGAATTTGTAAATTTTTTTTTTTTTTTTTGAGATAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGCGGCATGATCTTGGCTCAATGCAACTTCCACTTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTTGAGACGGGGTTTCACCATGTTGAACAGGATGGTCTCAATCTTTTGACCTCGTGATCCACCCACCTTGGCCTCCCAGAGGGCTGGGATTACAAGCGTGAGCCACCACGCCCGGCCAAACTTTACTTCTAAAAACGCATTACAGATGCATTCTTTTTAATGTCTAAGGCTCCTTTTCATCATAATTTTGCTGTAAGGAAGAGTGGAGCCCTTGTGATTGAGATCAGTCTCTTTTTTTCCCTTGAATATCAAACTGGATCATTGAGGTCAGTCTTTTACACCTCTCACCCTGGAATCCTGCAAGAAAAGAAATCTAGGCAGATAGATTATGAAAGTGTGGCAGTAGATAAGATTTCAACCTTTAGGTTTTGTTTCTTTCAATGAAACTTTTAAAGTGAAGCTTTGAGAAGAATTCTAGTGAGAAATAGTTTTAGGGGAAGTACCAAGAGCTGTTGCGGTCCTAGGTACGTACAGTTTTTCTTGCTAATAGTATCAAAGTGGAACACATTTGCAAAATAGTCTTCTGAGTGTTGGCTTCAACTGCCTACCTTTGAGAGTTAAAAATGTCTCTTTTACAGAGGAGCTCAATCTGCCTGCAGACATTCCCAGCTACTTGTCTTCCCAAGGAACGCTGTCTGAGCCACAGGAAGGCTACAGCAACTCTGAGGCAGGCAGTCATCAGCAACTTATGCCTCCTGCCAATGGATATATACACAAAGGCACTGACGGTAATGACTCTGTTGTTTATGGTTACAATTTCAGCCTATTCTATTGAGTTTACTTTTCAGTGTGTAGTTTCTCCATTAATCTGAAGCAATATTTTAAAGTAAGATACCTAATGAAAGCATTTAGCCACATGCAAAATAGGATGAAAATTGACTAAAGTCTTAAAAGGATATGAAAATCATCTTACAGAGTGGAGAAACACATTAAACAAGAGATCAGAGTACACAGCAGAGGCTCCCAAACTTGTGTAATTATAGGAAAGGGATATTCTGCAAACTTTTTTCAGGTATCTCTTTCTTACCCTTTTCAGGCGTGGGCATCCTTCAGACCACATCCAAGGGAGGCTGGTTTCTCTTCCTGACAGGTAGACATTCAGTAAAGTTTAAAGGGTAGCTAGGAGCCAGGCATGGTGGCATGCCTGTAGTCCCATCTACCCACGAGGCTGAAGCAGGATTACTTGAGGCCAGGAGTTCGAGGCTGTATTGTGCTGTGAGTGCACCTATGAATAGCCACTGTACTCTAGCCTGGACAACATAGCAAGACTCCCCACCTCTAAAAGAAATCAACAAATGGTAGCAATGGTTCTCAGCATATACTGGAGAACATCAGAGAGATGTAAAGAGTTCCCTAATTAAATGAACCTGACATCCCAACACGTAGAGATGCGTACCCATACACAGAGTTCTTCTCCCTCCACCCTTTTCATAGCCTCGCTCCCATAGGGAGTGACAGAACTGAATGAATTAAGGGACAGAAGAATTGGGTTTAATTGATACTTCTTCCTTTTTCCAGCTCTGTGACCATGAAGCTAGTTACTTAAGATCTGAGCTTTACTTTTCTAATTTTTAAATAAAGAGACAATAATTTGTAAAGCACTTCCCCCAAGATTCTCACAGATCTTTTCAGCAAATCTGTGTGGTACTTCAAATACTATACAAATGGAAGATTTATTCCATTTCTTCAGAGACTTTTTTAGGCTGGGTGTCAACAGAACTTTATCTAATTGATAAATTGGATTTTGGCTTTTCATGAAAAATATAGTAGTTCTGACTCTTTTTTTTGTTTTTGAGAAAGCGTCTCATTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCCTCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGTGCGTGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTGCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCTGGCATTTCTGACTTTTAAAAGAATACTTAAAAGTCTGTTCTTTGAAGTATGTGGGAAATAACACTGCTTTCTGGGTTAAACTAAATTACTTTTCACTCTCTTCCAATTCTAACATTCTGTTGCATGATTTTTTTTTGTTTGTTTTTTGGTTTTTTTGAGACAGAGTTTCATTCTTGTCACCCAGGCTGGAGTGCAATGGCACCATCTCAGCTCACTGTAACCTTTGCCTCCCCGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGTCACCATGCCCGGCTTATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTTCGGACCTCAGGTGATCCACCTGCCTCGGCCTCCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCTCCTGGCCTGTTGCATGATTTTGAATAAGTAACTCACTCTTTATTTCTCACTCTCTCTTCTCTCCTTCATCATTCAGTTTTCAAAGCACATAATAATCCAGGGAGTTCATTGTTAAACCTATACTTCTGTCAACCATGTACTTGTCAGGCAGGACTTCTCATTGTCAGAAGCTTTCCCTAGGGATGCTTGTAGCAATTGGTGTTACTTAACCTCTTGACTCATTAAAGTAACATGGTTTTTCATGAAGTGAAGTCATCATAACTCCTTATTCTCTGACTT
|
CATTTTTTTTTTTTTTAATGTTTTCCTGTTAGAGACACCCTCATTTATTAGACCCCTGGAGGATAAGACAGTAACACGAGGTGAAACTGCGGTGTTACAGTGCATAGCTGGAGGGAGTCCTGCCCCTCGTCTCAACTGGACTAAAGATGATGGGCCTTTGCTGGTGACAGAACGACATTTCTTTGCTGCAGCCAATCAGCTTCTCATCATTGTAGATGCCGGGCTAGAAGATGCTGGGAAATATACCTGCATTATGTCTAACACCCTTGGGACAGAACGTGGCCACATTTACCTAAATGTCATTTCATCCCCCAATTGTGACTCTTCCCAGAGTAGCATTGGGCATGAAGATGATGGCTGGACCACAGTTGGCATTGTCATCATTGTTGTGGTCTGCTGTGTTGTTGGCACTTCTTTGATCTGGGTCATTGTTATTTACCACATGAGAAGGAAAAATGAAGACTATAGTATCACAAACACAGGTAAGTAGTACCCACATGACACCTATGGCTTGTACTTCAGTCAAGAATGTAGTATAGGATTAATTGTACAATATAAAAAACTGAGAGCTGGTCATAGTAGCACATGCCTGTACTCCCAGCTACTCAGGAGGATGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCAAGGCCCACCTGGGCAACATAGCAAGACCTCATCTTCCCCCTCAAAAAACTGAAGAGCTGTGATACATTACCTGATATGTGATAGAAGGGAGTTTTTGTTGTTAAAATGTTCAACTTCTTTGATATAACAGAACCTCTTTGAGGAATAGGTTCATAACAGAACCTCTTTGAGGAAAGAATTTTGTTTATTTGAGATAGGGTGTTACTGTAATGCCCAGGTCAGAGTGTATCGGTACATTCATGGCTCACTGCAGCGTTGACTTCCCAGGCTCAGGTGATTCTCCCATCTCGGCCTTCTGAGAAGCGGGGACTATAGGCATGTGCCACCGCGCCTAAGTTTTTATATTTTTAGTAGAGTCGGGTTTTGCCATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCTAGCAATTTGTCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGACCAATTTTAAGAATTTGTAAATTTTTTTTTTTTTTTTTGAGATAGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCAGCGGCATGATCTTGGCTCAATGCAACTTCCACTTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTTGAGACGGGGTTTCACCATGTTGAACAGGATGGTCTCAATCTTTTGACCTCGTGATCCACCCACCTTGGCCTCCCAGAGGGCTGGGATTACAAGCGTGAGCCACCACGCCCGGCCAAACTTTACTTCTAAAAACGCATTACAGATGCATTCTTTTTAATGTCTAAGGCTCCTTTTCATCATAATTTTGCTGTAAGGAAGAGTGGAGCCCTTGTGATTGAGATCAGTCTCTTTTTTTCCCTTGAATATCAAACTGGATCATTGAGGTCAGTCTTTTACACCTCTCACCCTGGAATCCTGCAAGAAAAGAAATCTAGGCAGATAGATTATGAAAGTGTGGCAGTAGATAAGATTTCAACCTTTAGGTTTTGTTTCTTTCAATGAAACTTTTAAAGTGAAGCTTTGAGAAGAATTCTAGTGAGAAATAGTTTTAGGGGAAGTACCAAGAGCTGTTGCGGTCCTAGGTACGTACAGTTTTTCTTGCTAATAGTATCAAAGTGGAACACATTTGCAAAATAGTCTTCTGAGTGTTGGCTTCAACTGCCTACCTTTGAGAGTTAAAAATGTCTCTTTTACAGAGGAGCTCAATCTGCCTGCAGACATTCCCAGCTACTTGTCTTCCCAAGGAACGCTGTCTGAGCCACAGGAAGGCTACAGCAACTCTGAGGCAGGCAGTCATCAGCAACTTATGCCTCCTGCCAATGGATATATACACAAAGGCACTGACGGTAATGACTGTTGTTTATGGTTACAATTTCAGCCTATTCTATTGAGTTTACTTTTCAGTGTGTAGTTTCTCCATTAATCTGAAGCAATATTTTAAAGTAAGATACCTAATGAAAGCATTTAGCCACATGCAAAATAGGATGAAAATTGACTAAAGTCTTAAAAGGATATGAAAATCATCTTACAGAGTGGAGAAACACATTAAACAAGAGATCAGAGTACACAGCAGAGGCTCCCAAACTTGTGTAATTATAGGAAAGGGATATTCTGCAAACTTTTTTCAGGTATCTCTTTCTTACCCTTTTCAGGCGTGGGCATCCTTCAGACCACATCCAAGGGAGGCTGGTTTCTCTTCCTGACAGGTAGACATTCAGTAAAGTTTAAAGGGTAGCTAGGAGCCAGGCATGGTGGCATGCCTGTAGTCCCATCTACCCACGAGGCTGAAGCAGGATTACTTGAGGCCAGGAGTTCGAGGCTGTATTGTGCTGTGAGTGCACCTATGAATAGCCACTGTACTCTAGCCTGGACAACATAGCAAGACTCCCCACCTCTAAAAGAAATCAACAAATGGTAGCAATGGTTCTCAGCATATACTGGAGAACATCAGAGAGATGTAAAGAGTTCCCTAATTAAATGAACCTGACATCCCAACACGTAGAGATGCGTACCCATACACAGAGTTCTTCTCCCTCCACCCTTTTCATAGCCTCGCTCCCATAGGGAGTGACAGAACTGAATGAATTAAGGGACAGAAGAATTGGGTTTAATTGATACTTCTTCCTTTTTCCAGCTCTGTGACCATGAAGCTAGTTACTTAAGATCTGAGCTTTACTTTTCTAATTTTTAAATAAAGAGACAATAATTTGTAAAGCACTTCCCCCAAGATTCTCACAGATCTTTTCAGCAAATCTGTGTGGTACTTCAAATACTATACAAATGGAAGATTTATTCCATTTCTTCAGAGACTTTTTTAGGCTGGGTGTCAACAGAACTTTATCTAATTGATAAATTGGATTTTGGCTTTTCATGAAAAATATAGTAGTTCTGACTCTTTTTTTTGTTTTTGAGAAAGCGTCTCATTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCCTCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGTGCGTGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTGCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCTGGCATTTCTGACTTTTAAAAGAATACTTAAAAGTCTGTTCTTTGAAGTATGTGGGAAATAACACTGCTTTCTGGGTTAAACTAAATTACTTTTCACTCTCTTCCAATTCTAACATTCTGTTGCATGATTTTTTTTTGTTTGTTTTTTGGTTTTTTTGAGACAGAGTTTCATTCTTGTCACCCAGGCTGGAGTGCAATGGCACCATCTCAGCTCACTGTAACCTTTGCCTCCCCGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGTCACCATGCCCGGCTTATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTTCGGACCTCAGGTGATCCACCTGCCTCGGCCTCCCCAAGTGCTGGGCTTACAGGCATGAGCCACTGCTCCTGGCCTGTTGCATGATTTTGAATAAGTAACTCACTCTTTATTTCTCACTCTCTCTTCTCTCCTTCATCATTCAGTTTTCAAAGCACATAATAATCCAGGGAGTTCATTGTTAAACCTATACTTCTGTCAACCATGTACTTGTCAGGCAGGACTTCTCATTGTCAGAAGCTTTCCCTAGGGATGCTTGTAGCAATTGGTGTTACTTAACCTCTTGACTCATTAAAGTAACATGGTTTTTCATGAAGTGAAGTCATCATAACTCCTTATTCTCTGACTTNN
|
benign
| 13,323 |
The chromosome 1, position 113898754 genetic variant in gene AP4B1: benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Abnormality_of_the_nervous_system', 'Hereditary_spastic_paraplegia_47', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Spastic_paraplegia']
|
TAAGGTTTCCTCAGGTTTGGGGCCTTTGGCCCTATTGGGTTTTAGTGTTTCAGTGGAAGCTGCTCAAAGAATTTCTCTAAATTTTTCACAAAAATGGTTACTAACCTAGAGTGCACATCAGAGTCATCTGTGAAGCTTCTTAAAAATGTATCTGTCAGCCGGGCACGGTGGCTTACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCGTCTCTATTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTTCCAGCTACTCGGGAGCCTGAGGCAGGAGAATTGCTTGAAACCAGGAGGCGGAAGTTGCAGTGAGCTAAGATGGCATTACTGCACTCCAGCCTGGGCAACAGAGCTAGACTCTGTTTCAAAAAAAAAAAAAAAGTTATCTGTCTAGGTCCAACACCCCTGAATATTTAAGTCAGTAGACCTGTGATTACGTCCAAATCTTTGTAAAAATTTCACAAATGATTATAATTTTCATTCTAGCTAAAAACTCCATGGTCTAAATCTCTGACTCAAAACTGTTCAAGAGAAGCGGGGCACAGTGGCTTATGCCTGTAATCCTAGCTCTCTGGGATGCTGAGGTGGGTGATCACTTGAGGCTAGGAATTCTAGACCAGCCTAGACAACATAGCAAAACCCTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCACAGCTACTCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAGTTTGGGAGGTAGAGGTTGCAGTGGGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACTCTATCTCAAGCAAAGCAAAACAAAACAAAACAGAACTGTTCAAGAGAACAATGGTATCACAGTTTTGTAATAAAACCCGTCGGATAAATCTTGTTTTTATAATTTATATGCCATCTATATCCAAAAGAGAATCTAAGGTGGCAATCAATTCGAAGAGTGCCCACTTCAAACACAGGGTAGAGAGAATAATTAGATTCCATTTCAAAGGGCAGGGTTTCAAGCATTCTCCCCCTACCTAGAAGTAAAGGAGAATTACAGTCTACCTCACTATCTTGAATGTTCTCTTCACAGCCGGGCAGGGCCTGACATACAGCTTCAGTACACTGAGGACACAACCAAACCAGGTCTCGGAAAGTCTGCACCACCACTACAATACAGGCCAGGGTACAAGAGCACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTGAGGTGCCTAGGGTTCAAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATG
|
TAAGGTTTCCTCAGGTTTGGGGCCTTTGGCCCTATTGGGTTTTAGTGTTTCAGTGGAAGCTGCTCAAAGAATTTCTCTAAATTTTTCACAAAAATGGTTACTAACCTAGAGTGCACATCAGAGTCATCTGTGAAGCTTCTTAAAAATGTATCTGTCAGCCGGGCACGGTGGCTTACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCGTCTCTATTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAGTTCCAGCTACTCGGGAGCCTGAGGCAGGAGAATTGCTTGAAACCAGGAGGCGGAAGTTGCAGTGAGCTAAGATGGCATTACTGCACTCCAGCCTGGGCAACAGAGCTAGACTCTGTTTCAAAAAAAAAAAAAAAGTTATCTGTCTAGGTCCAACACCCCTGAATATTTAAGTCAGTAGACCTGTGATTACGTCCAAATCTTTGTAAAAATTTCACAAATGATTATAATTTTCATTCTAGCTAAAAACTCCATGGTCTAAATCTCTGACTCAAAACTGTTCAAGAGAAGCGGGGCACAGTGGCTTATGCCTGTAATCCTAGCTCTCTGGGATGCTGAGGTGGGTGATCACTTGAGGCTAGGAATTCTAGACCAGCCTAGACAACATAGCAAAACCCTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCACAGCTACTCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAGTTTGGGAGGTAGAGGTTGCAGTGGGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACTCTATCTCAAGCAAAGCAAAACAAAACAAAACAGAACTGTTCAAGAGAACAATGGTATCACAGTTTTGTAATAAAACCCGTCGGATAAATCTTGTTTTTATAATTTATATGCCATCTATATCCAAAAGAGAATCTAAGGTGGCAATCAATTCGAAGAGTGCCCACTTCAAACACAGGGTAGAGAGAATAATTAGATTCCATTTCAAAGGGCAGGGTTTCAAGCATTCTCCCCCTACCTAGAAGTAAAGGAGAATTACAGTCTACCTCACTATCTTGAATGTTCTCTTCACAGCCGGGCAGGGCCTGACATACAGCTTCAGTACACTGAGGACACAACCAAACCAGGTCTCGGAAAGTCTGCACCACCACTACAATACAGGCCAGGGTACAAGAGCACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTGAGGTGCCTAGGGTTCAAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGNN
|
pathogenic
| 13,356 |
Is chromosome 1, position 113900018, gene AP4B1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Hereditary_spastic_paraplegia_47']
|
CACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTGAGGTGCCTAGGGTTCAAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTT
|
CACAGGATTAGAGCCTCCAGGTAGGCAGGAATCTTAAGAACAGTCATGTATTCAGACTCATGATTCTGGCTGGATTTCTGTAAAATGGGTTTTGGAGGTGTGGTCAATGGTTATCTAAGAAATGTAATGAAATAAGCAATAATTTCTTGAATGCATATTGCTCTTATCAGATTGACATGAGGATAAATGAACTAATGTATGAAAAAGCACTTTGTAAAACATAAAGCTGTATGCAAATGTGGGGTAGTATTGCTGTTGAATGAAACACTAAAGACAGTATAAATAGAACCACCAGGCCTGGGAAAATGATAACACAAGTGAGGTGCCTAGGGTTCAAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTNNNNNNNN
|
pathogenic
| 13,359 |
A genetic alteration at chromosome 1, position 113900353, in gene AP4B1—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Hereditary_spastic_paraplegia_47', 'Spastic_paraplegia']
|
AAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTTTTCAAGATGGGGTCTCACTTTGTCACCCAGTGGCCCGATCATAGCTCACTGCTGCCTTGAATTCCCGGGCCCAAGCCATCCTCCTGCCTCAGCCTTCCTAGTAGCTGAGACTACAGGTGCGTGTCACCATGCCCATTTAATTTTTTGTAGATATAGGCTCTCACCATCTTGCCCAGCTGGTCTCAAATTCCTGGGCTCAAGCAATCTTCCTGTCTAAGCCTCCCAAAGTGCTGGGTCTACAGGCATGAGCCACTGTGCCCAGCCTAATTTGACTTTTCATTTGGAATAATGATGCACAGGCAGCAAAAAAAGATATACACATAATTGTTTAGAG
|
AAAATTGAAGAAGACATGCAGGATTGGCTCTTGCAGGAACCTAAGAGTGAGTGCCTTCTTAAATTTTGCATCCTAGGCATCTTGCTTGACTTACCCTTGTCCCAACCCTGGAAGCCACTGCCTATGGCATACTGCCATAAAACAAAAAGAGAAGTAAAGATGGTGAAATATCAAGCAAGGTCATCCTAGTAGCCTTCATTATCTATAGTACAGCCTTATAGATCATGGCAGCCTGAAGACTCAATATCCTATTAGATCTATAGACTTTATGCTTCTCTAACAGCAACAGATGATGATGCAAGGAAAAGTTCAAATCTCTATATTACTCATTCAACAACAAACATGTTTTGAGCAACTACTATAGGCCAGGCACCTGACAAAAAAAACAAAAATCCTAAAAAGGCAGGCATTACCTGTGGTAATGTGCTCTTGTCGAAGACCCAGCAACTCTGTTAAAATCTGAACACATTGATCTGTGTAAGTCCTGGCAATGCCACCTACAAAAGAAGGGAAAGCAGAGAAAACTGCTAAGTGAAATATTAGCACCTCAATCTAAAATCATCTCCCACCAGTGAAAGACAAAAGAAACAGAATTATCTAAAAAAAAAAAAAAGAAAAAAATTCACTCCTTACTTGATGAACTAAGAATATAAGTTTACTATAAAGGGAACTTTGGTAAAAATCATTTTTTCTCACTGACTACTAGAAAACTGAAAGCTCATAGCAAAACAATTCCCCATTAAACAAGGTTGAAAACTTATAGTAACAAAGGTATTTACATGGCAGCCAGATATGAGGTACCCTTTTTGTTGCAGCACACCTGCAATGGAGTATTTTTGTGGGGGACACTTGACAGCAGTCTCCTAAGGATTTCTTGTCTCCTCTTTGCTCCCTCTTCTCTGCCCCTAAAATAACCATGCTTTATTCCAAATATGAGGGTTGCTCCTCCTCCTGTACTTGAAATCCTTCAAAACTTGGCTCAACAGCTGTTTTCAGTTTTTGAGTCACTCCAGCCTTTCAAATTCCAGACAGGGTACTATGAAAAAGTCTGTAAGATTTAGGAATTATTCTGTGTTGGTCTACATTCAGCACAATACATAGCCCATAGCAGAAGCTCAATAAATGACTGGTGGATTAACATAGGACTTTGAGTCAGGAAAGCTGGATTTCAGTCCCATTTCTAAAACTATGTGCCCTTTTGGCAATTTGATAACTGTTTTTGTGCCTGAGTTTCTTCATCTTTAAAATGAAGTTAATGACATTTGTCTACTTTTCCTGACTGTCTCACGATACTGTGGTAAGATGATGTATAGGAAAGCATTTTGGATAGAAGACAACAACAATTTTAAGTATTGTAGTTTGTGTTACCTGTATTCTCCATCCTGGAAGATACAGCAACACCAATCTTGACCAAAAAAAAACAAAAAACAAAAAAAAACTCTCTTCCCCCGTGTTTGTAGTCACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTTTTCAAGATGGGGTCTCACTTTGTCACCCAGTGGCCCGATCATAGCTCACTGCTGCCTTGAATTCCCGGGCCCAAGCCATCCTCCTGCCTCAGCCTTCCTAGTAGCTGAGACTACAGGTGCGTGTCACCATGCCCATTTAATTTTTTGTAGATATAGGCTCTCACCATCTTGCCCAGCTGGTCTCAAATTCCTGGGCTCAAGCAATCTTCCTGTCTAAGCCTCCCAAAGTGCTGGGTCTACAGGCATGAGCCACTGTGCCCAGCCTAATTTGACTTTTCATTTGGAATAATGATGCACAGGCAGCAAAAAAAGATATACACATAATTGTTTAGAGN
|
pathogenic
| 13,366 |
Located at chromosome 1 position 113901814, the variant affecting gene AP4B1 (adaptor related protein complex 4 subunit beta 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Hereditary_spastic_paraplegia_47', 'Inborn_genetic_diseases', 'Spastic_paraplegia']
|
CACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTGACATATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTTTTCAAGATGGGGTCTCACTTTGTCACCCAGTGGCCCGATCATAGCTCACTGCTGCCTTGAATTCCCGGGCCCAAGCCATCCTCCTGCCTCAGCCTTCCTAGTAGCTGAGACTACAGGTGCGTGTCACCATGCCCATTTAATTTTTTGTAGATATAGGCTCTCACCATCTTGCCCAGCTGGTCTCAAATTCCTGGGCTCAAGCAATCTTCCTGTCTAAGCCTCCCAAAGTGCTGGGTCTACAGGCATGAGCCACTGTGCCCAGCCTAATTTGACTTTTCATTTGGAATAATGATGCACAGGCAGCAAAAAAAGATATACACATAATTGTTTAGAGATATTTAACCAAAACTGAGGACTATTTTACTTAGAGTGAGAATCAAAAACTCCCTCTAATAAAATTATATGATACAGGTTATTAAGCCAAAGCAGTGGCTGAAAATCTGAGTTCAGGGTACAATAATGTTTTCCCCAGTATTAAGGAGCTCAAATAAATTATCCTCTTTAAAAACCTACCCTGTGATCACTTGAATTCATCAGCCATTTAGGACCAGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACATATCTCCTGATTACCCAACTAGATTGTGATCTCTTAGAGGGTAGCAGCCAGGATTACCTTGTCTATTATATCACACAGTACTTCATACCATAGGCCTACAATAAACATTATTCTTCTATTCATTCAACAAACACTTATTATTATTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTAGAGTGCAGTGGCACAATCTCGGCTCATTATAAGCTCCGCTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTGCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACCAGCGTGAGCCACCGCACCCAGCCTCAACAAACACTTATTGAATCCCTAGTACTTTGGTGAAATTCAACTTTTACATCCAGGGACATGCTCTTGGGACATAATCTTGAAGAAGGTGTGGTCTCAAACCTCTAGGAACTTCAAATCTATTAATGAGCCAGATGAGAATACCGTTAATTACAGTATGATAGATAAGTACTTAAACAGAAGTATTGTACAAGGTGTAGAGGGGATTCAGAGGTCTGACACTGGCAGGAAGTCAGAAAATGTTTCTTCACAGAGGAAGTAATACTTTAGCTGAATGAGCAGGAGCTCACTAGGCAGATGTAATAGCAAGGTAAAGATACATGCTATGAGGTAAGTAGACATGAGCAGGAGCAGCACACATTTTTTTAAGAGTCTGTAGGTAGTTGAATTAACAGCTTGTTCCTTGGGTGCTGTGATAAGTTTGGACTTTATTGTTTCTCAGACTGGTCTCCTACTGGAACCAACTGAAATGTTTATTAAAAATACAGATTCCTG
|
CACTGACCCAATTATTTAGTGCATAGTACTTTGCTTCTGAAGCAAGATTCATGCCCTTTGCTCTCTATGGTTCCTCTAACCACAGTTTTCTTGCTGGCTGGTCTAGGTTCTCAAGAAGGAAAAGGAGCAGACACCTACCTATGGCAAAGATGGCAGCCTGTGCAAAGTCCGCAGACACATCCGTGCAGTACCCTCGAAGCTCCTCTAGCACCTGCTGCACATTCTCATCGTTCACCAGTTCACACAGCACCTCCACTTTCTGTAGTTTGATGTAGTGGGGCTCCGAGTAGGAGCAAAAAAACTTTTTGTAGTGGCTGCTAAAGTGACCTGGTAAACTATGCAAGATCTGGCGTACATGACAAAGAGCAACAAAACAGAGCTCACGGCTCTCTGAAGAACAGGCAGCTAGCAAAGGTCCCTTGACCCGCACAAGGACATCAGTTTGTACGTGGGGAAACATTTTTGCCAAGATCAGAAAAAGTTTGGTAGCTCCCATCACCACACCTGGGCTACTGCTCTTGAGGAAACTATCCAACAGATTGAGAATGTCAAATAGTTCTTCCTCACTGCGGGGTTGGTAGCGTAGCAGAAAGTTCAATACTTCAGCCTGGCCCCATTGGTCCAGTTTTGACATTCTATCCAAAAAACAAAACAAAAGAGCTATTTTAGCAACAAAATTAGGACCATTTCCATGCCACTGCCATATGACCAGGTGGTTGTTCATCATAGCAAAGGGAGAATTCTTAAAAATAGGCTGTGCCATAATTAAGTCACTTTTCATGTACTATTTAAAGTTTACACAAAAAAGGCTTAAAATTCCAAGATGAGTTGTTAATACAAATGCACACTCCTCTAAGACCAAAGACATGATCAGCATACACTGGGTCCAGGTTCCTTACATTTTAAGACACTATAAATGGCTTAGTTTGGGGGACATGACTAGAGAAGGGTAGAACCTATTCCCACAGTATATTTCTATTTCCCTATATCAATAAGGGAAAGTAAGGCAAATAAAAGAAATTCTCTCAGTGGAATGTGAGGGAGTTAATAGTGGTTAACTGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGAAGTTTGGGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCGGTAAGCCGAGATAGCGCCATTGCACTCCAGCTTAGACAACAAGAGCAAAACTCCGTCTCAAATAATAATAATAATAATGGTTAACTTTCTTTTCTACCCCACATAAGTTGTTCAATACTTTAATACATCAACAAGATCCCACAAGGTAGCAGATCTCATAATAAAAAGAGTGCTGAGGCATCCAAACCGATTTAAGAGATGGTGAGCAATGGGCTTATTGATGACAACGCCTCCTTCCTGTTTCAGAATTTCCTCTAGAGACCTCAAGCAGTTCACAACTACAATTGGATCCTGGTCACGCAGCAAACTGTATAATTCATTTACCAGGGCACCATCTATAAAAAAGAACAAAGTTCTTAGATAAAGAAGGAAAGCTTCAGAGTAACAAGGATGTAGCCAGAGTAATAGCTCCAGGTAGACAAAGTTGAACTTCTCTGCTACAAAAATGACAAAGGCCACACTAAAGTGCAAGGCAAAAAAAAAACTGCCATGTCCAGACTGTTCTAAGCAGCTAATACAAAGGATCTCATTGGGGCCCCAGAGAAAGGACTTCTCATCTCCAGAAGATACCAAGCCCTGCATCCTACTTAAAGAGATATGTACAGAACTGGGGCCACATTATTATTTTCTACCAAAGCCACACAATCTTTTTTAAAGTTATACATAATGGAGGCACATTGACCATGATGGATTACACTGAACTTACCTACTTCAGAGTCTCCATGAAGATTATGCATCTTGGCACATCCAAGGACTGCCACTCTCCTATGAAGCCTTATCCCGCAGACCATTGAGAATAGGCTGTTGTATATACTCCTGCACACCAGGCATCCTAAGCAACACATCCTGGAGTTAGCCAGATTCTGAAATACTAATTTTGACATACCTCAGCCCCTGTTCACCTAACAGATGGTTTAGTAGATGCTGCACCCATCAGATCATGAAGAATTGCAGAAAGCCTCTATCAAGCTTAAAAAGCCATAATTTGACTTTTCTGTTTTTTTCTTGTTTTTTTCAAGATGGGGTCTCACTTTGTCACCCAGTGGCCCGATCATAGCTCACTGCTGCCTTGAATTCCCGGGCCCAAGCCATCCTCCTGCCTCAGCCTTCCTAGTAGCTGAGACTACAGGTGCGTGTCACCATGCCCATTTAATTTTTTGTAGATATAGGCTCTCACCATCTTGCCCAGCTGGTCTCAAATTCCTGGGCTCAAGCAATCTTCCTGTCTAAGCCTCCCAAAGTGCTGGGTCTACAGGCATGAGCCACTGTGCCCAGCCTAATTTGACTTTTCATTTGGAATAATGATGCACAGGCAGCAAAAAAAGATATACACATAATTGTTTAGAGATATTTAACCAAAACTGAGGACTATTTTACTTAGAGTGAGAATCAAAAACTCCCTCTAATAAAATTATATGATACAGGTTATTAAGCCAAAGCAGTGGCTGAAAATCTGAGTTCAGGGTACAATAATGTTTTCCCCAGTATTAAGGAGCTCAAATAAATTATCCTCTTTAAAAACCTACCCTGTGATCACTTGAATTCATCAGCCATTTAGGACCAGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACATATCTCCTGATTACCCAACTAGATTGTGATCTCTTAGAGGGTAGCAGCCAGGATTACCTTGTCTATTATATCACACAGTACTTCATACCATAGGCCTACAATAAACATTATTCTTCTATTCATTCAACAAACACTTATTATTATTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTAGAGTGCAGTGGCACAATCTCGGCTCATTATAAGCTCCGCTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTGCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACCAGCGTGAGCCACCGCACCCAGCCTCAACAAACACTTATTGAATCCCTAGTACTTTGGTGAAATTCAACTTTTACATCCAGGGACATGCTCTTGGGACATAATCTTGAAGAAGGTGTGGTCTCAAACCTCTAGGAACTTCAAATCTATTAATGAGCCAGATGAGAATACCGTTAATTACAGTATGATAGATAAGTACTTAAACAGAAGTATTGTACAAGGTGTAGAGGGGATTCAGAGGTCTGACACTGGCAGGAAGTCAGAAAATGTTTCTTCACAGAGGAAGTAATACTTTAGCTGAATGAGCAGGAGCTCACTAGGCAGATGTAATAGCAAGGTAAAGATACATGCTATGAGGTAAGTAGACATGAGCAGGAGCAGCACACATTTTTTTAAGAGTCTGTAGGTAGTTGAATTAACAGCTTGTTCCTTGGGTGCTGTGATAAGTTTGGACTTTATTGTTTCTCAGACTGGTCTCCTACTGGAACCAACTGAAATGTTTATTAAAAATACAGATTCCTGNNNNN
|
pathogenic
| 13,374 |
Clinical significance of chromosome 1, position 113904664, gene AP4B1: benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Hereditary_spastic_paraplegia_47']
|
AGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACATATCTCCTGATTACCCAACTAGATTGTGATCTCTTAGAGGGTAGCAGCCAGGATTACCTTGTCTATTATATCACACAGTACTTCATACCATAGGCCTACAATAAACATTATTCTTCTATTCATTCAACAAACACTTATTATTATTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTAGAGTGCAGTGGCACAATCTCGGCTCATTATAAGCTCCGCTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTGCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACCAGCGTGAGCCACCGCACCCAGCCTCAACAAACACTTATTGAATCCCTAGTACTTTGGTGAAATTCAACTTTTACATCCAGGGACATGCTCTTGGGACATAATCTTGAAGAAGGTGTGGTCTCAAACCTCTAGGAACTTCAAATCTATTAATGAGCCAGATGAGAATACCGTTAATTACAGTATGATAGATAAGTACTTAAACAGAAGTATTGTACAAGGTGTAGAGGGGATTCAGAGGTCTGACACTGGCAGGAAGTCAGAAAATGTTTCTTCACAGAGGAAGTAATACTTTAGCTGAATGAGCAGGAGCTCACTAGGCAGATGTAATAGCAAGGTAAAGATACATGCTATGAGGTAAGTAGACATGAGCAGGAGCAGCACACATTTTTTTAAGAGTCTGTAGGTAGTTGAATTAACAGCTTGTTCCTTGGGTGCTGTGATAAGTTTGGACTTTATTGTTTCTCAGACTGGTCTCCTACTGGAACCAACTGAAATGTTTATTAAAAATACAGATTCCTGGGTTCCCTCCCACCCTACTGAAATCAGAATCAGTCCCTGGACTGGATGACAAAAAGCACCCCAAGGGATTTTTATGCATAGTAAAGTTTGTGAACCATAGCTGTAGGCAAGAGTTATGTGTTCAGGTATGTATAATGGAAAAATTCTGTCTCAAATGAGGCAAAGTGGCCTACTAGTAAGCTGCTGCAATTGCTTTATTGATGAAGGCCTGGACCAGAACAACAATGCTAATAAACAAGAGAGGATGGATATTTAGAATTATGAATTCAAACCATCTGACATAAGAAGTGAGAGATCAGGTGTCCTCAAGGTTGGCTCCCACGCATAGTCGGCTGCTGGTGGCATTCATCAACACAAATGTAAGCTGAACAGGTTTGAGGAAGACGGAAGAATGTCCGGGCTATTTCGGACATACTTTTGATAAACCACGCACGTGGAAATGCCAAGCAGGCAGTGGGATACGTGGGTCTGAAGCTAAAAAAGGAAGTCTGTACTAGCTATATTATAGATCCAAGAGTCACCAGTAATTGCTCAAGCCCGTGATATGGAGGAAACTACCCAGCTGAGTAAAAGATGCTGCAGAGGGGAGACTGACATGGTACTCCAAAGCAGCAGGACGAAGACCGAACCATATAACTGCCACGTGTGAAAGCTAATTCACCCTTTCAGAGAGACTGGGGCTAGTGAGCCCTGATGGGGATTGCAAAGGGAGCAGTTAGCACGCGAAGGGAGGTAGGTGATACCTAATCACTCGCTGGATGACATTCCGGTAGCGCAGCCTATCAGCTTGAATGTGAGGATTGCACAGAGCCTTCTTCAGCTCCTTCACCACGTCCTCGGAGCCAAGGTACGGCATCTTCCTAAGAGTCACAGGGCAGCTCCCACAGCTCCCACGGTAACTCGAGGGCTCCTTCTCGTCCTGATGTGGGAGCCTGAGTAAAGGAAATATGAGTCAGTGAAAATACAAAAGGCGAGATCTCGCCTCAGGCTCGGCTTCCGTAGGGCCGGCACGCTGGCCCTGACACACTTCCACGCCCTCCGCGACACCGCGAGCCCCACCCTAGGCTCTTCAGGCCCTACCGTCGGCCGGCAGGCCGTTCGCCCCGCCCACAGATCGCTCCCGCTACTTCTAGGTCCTCCGCCGGATTTCCAGCGCCGCGTCCGACTGACCGCAGACCCCTCCCTCTCCAGTTCCAGCCTTAATTCCCCCTCCACGCCGTTCTCATCGCGGATAGGCCCAATCTTGCTTTCTGCGGAAGTCCCGCCCCCTTGTCAAGAGACCAAACAGAAGACCGCTGCCGGTCTCCCCGCGAGCGAGCGCTAAGCGTAGTCCCGACTCCGACCTTAGGATGCCCTTCCCCCAACCTCTCACTCTCCAGGCGCAGCTGCGCGGCTCCCTCTGGTGGAGCTGCGGCGGGCAATCGGAAATCGGCTACTTTGGCCTGTCTCCTCCCTGCAGCGCGCGCTTTGAGTGCCCGGCTCGGCCTCCGCTCCCGCGCGGTTGGGAGTGTCCAGCGCCCTCCGCGATTTGGGCTCCAGCGGGCAGGGTGACTTCCTTTTTCTGCCCACTCTGGTAACTTATTGCTCTGCTGGGCTCTTTCCCTTAGGGTCTCTGGCCCTGTTCTTGCCCCAGCATGACTTTTATCGGGACGCCGTTGTGGAAGCCTCACGCAGGAGCCCTGCCCCCGTGGAGAAGATCCCACTGGTGACTCCAACCCTACCACCATGAATGGGGTCCTGATCCCCCATACGCCCATCGCAGTGGACTTCTGGAGCCTGCGCCGGGCTGGCACCGCACGTCTCTTCTTCTTGTCTCACATGCACTCGGACCACACCGTGGGCCTGTCTAGCACCTGGGCCCGGCCCCTCTACTGCTCCCCAATTACAGCCCACCTCTTGCATCGTCACCTACAGGTATGGGGCTGGAGTCGGTCTCCGAGAGCTGGTCCAGGCATCTGGGTTGGGACTTCAACCTGTCATTCTTGGAGTCATAGAATGGGGGCCACGAAAACTGATTTGGAAGTTGTTTGAACCCAAAAATGCATCTTTAACCCAGAATAGGAACGTGTTTTCGAAGTGACCAACTTGAGATAGTTAGCCATAAGTTGAGGAGATATTTTAATCCAGCCAAGGAAACTATTCCTACCTTTATAAGTAAGCTAGGCCGATGTTTCCCAAACTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCTGAGTAGCTGAGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTTTGTATTTTTTGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCTAACTCCTGACCTTAAGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACCACGCCCCGCCTAAACTTGCCTCATCTTAAGAATCCACCTAATGTGCTGGGTGGTTCTCCAGCTCTCTCCCCACCCCACCCTTAAGTCTCCAAGAGATTAAGATCAGGAGTAAGTTTGGGAATTGCTGACTAGACTGTTTGCTGAACTCTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAAACTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT
|
AGACAGAGAAGAGGGTACTCACCTGAGGCTACACATGCTCCGTAACGCCAGCCCTCGCACCATTGGATTGGGGTCTGAGCAGTCTTTGCACAGCGTATTGATGGCCAGGAGAGCCAGATCTGGTTTCAGGGGAGCATATGTGCACATGTACAGATAAACCAACTTCTTCTGGACAATATCTACAGTGGCACTGGCCTTCACCATTTCCATAAAAACACCAGACATGTCCAAGCCTTGAGTCATGTACCTGAACAACGCACATGACAGAAGGAAGTAAAATGCAAAATCCCCAACTTACAATGGAGGGAGTTTTACTTACATATCTCCTGATTACCCAACTAGATTGTGATCTCTTAGAGGGTAGCAGCCAGGATTACCTTGTCTATTATATCACACAGTACTTCATACCATAGGCCTACAATAAACATTATTCTTCTATTCATTCAACAAACACTTATTATTATTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTAGAGTGCAGTGGCACAATCTCGGCTCATTATAAGCTCCGCTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTGCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACCAGCGTGAGCCACCGCACCCAGCCTCAACAAACACTTATTGAATCCCTAGTACTTTGGTGAAATTCAACTTTTACATCCAGGGACATGCTCTTGGGACATAATCTTGAAGAAGGTGTGGTCTCAAACCTCTAGGAACTTCAAATCTATTAATGAGCCAGATGAGAATACCGTTAATTACAGTATGATAGATAAGTACTTAAACAGAAGTATTGTACAAGGTGTAGAGGGGATTCAGAGGTCTGACACTGGCAGGAAGTCAGAAAATGTTTCTTCACAGAGGAAGTAATACTTTAGCTGAATGAGCAGGAGCTCACTAGGCAGATGTAATAGCAAGGTAAAGATACATGCTATGAGGTAAGTAGACATGAGCAGGAGCAGCACACATTTTTTTAAGAGTCTGTAGGTAGTTGAATTAACAGCTTGTTCCTTGGGTGCTGTGATAAGTTTGGACTTTATTGTTTCTCAGACTGGTCTCCTACTGGAACCAACTGAAATGTTTATTAAAAATACAGATTCCTGGGTTCCCTCCCACCCTACTGAAATCAGAATCAGTCCCTGGACTGGATGACAAAAAGCACCCCAAGGGATTTTTATGCATAGTAAAGTTTGTGAACCATAGCTGTAGGCAAGAGTTATGTGTTCAGGTATGTATAATGGAAAAATTCTGTCTCAAATGAGGCAAAGTGGCCTACTAGTAAGCTGCTGCAATTGCTTTATTGATGAAGGCCTGGACCAGAACAACAATGCTAATAAACAAGAGAGGATGGATATTTAGAATTATGAATTCAAACCATCTGACATAAGAAGTGAGAGATCAGGTGTCCTCAAGGTTGGCTCCCACGCATAGTCGGCTGCTGGTGGCATTCATCAACACAAATGTAAGCTGAACAGGTTTGAGGAAGACGGAAGAATGTCCGGGCTATTTCGGACATACTTTTGATAAACCACGCACGTGGAAATGCCAAGCAGGCAGTGGGATACGTGGGTCTGAAGCTAAAAAAGGAAGTCTGTACTAGCTATATTATAGATCCAAGAGTCACCAGTAATTGCTCAAGCCCGTGATATGGAGGAAACTACCCAGCTGAGTAAAAGATGCTGCAGAGGGGAGACTGACATGGTACTCCAAAGCAGCAGGACGAAGACCGAACCATATAACTGCCACGTGTGAAAGCTAATTCACCCTTTCAGAGAGACTGGGGCTAGTGAGCCCTGATGGGGATTGCAAAGGGAGCAGTTAGCACGCGAAGGGAGGTAGGTGATACCTAATCACTCGCTGGATGACATTCCGGTAGCGCAGCCTATCAGCTTGAATGTGAGGATTGCAGAGCCTTCTTCAGCTCCTTCACCACGTCCTCGGAGCCAAGGTACGGCATCTTCCTAAGAGTCACAGGGCAGCTCCCACAGCTCCCACGGTAACTCGAGGGCTCCTTCTCGTCCTGATGTGGGAGCCTGAGTAAAGGAAATATGAGTCAGTGAAAATACAAAAGGCGAGATCTCGCCTCAGGCTCGGCTTCCGTAGGGCCGGCACGCTGGCCCTGACACACTTCCACGCCCTCCGCGACACCGCGAGCCCCACCCTAGGCTCTTCAGGCCCTACCGTCGGCCGGCAGGCCGTTCGCCCCGCCCACAGATCGCTCCCGCTACTTCTAGGTCCTCCGCCGGATTTCCAGCGCCGCGTCCGACTGACCGCAGACCCCTCCCTCTCCAGTTCCAGCCTTAATTCCCCCTCCACGCCGTTCTCATCGCGGATAGGCCCAATCTTGCTTTCTGCGGAAGTCCCGCCCCCTTGTCAAGAGACCAAACAGAAGACCGCTGCCGGTCTCCCCGCGAGCGAGCGCTAAGCGTAGTCCCGACTCCGACCTTAGGATGCCCTTCCCCCAACCTCTCACTCTCCAGGCGCAGCTGCGCGGCTCCCTCTGGTGGAGCTGCGGCGGGCAATCGGAAATCGGCTACTTTGGCCTGTCTCCTCCCTGCAGCGCGCGCTTTGAGTGCCCGGCTCGGCCTCCGCTCCCGCGCGGTTGGGAGTGTCCAGCGCCCTCCGCGATTTGGGCTCCAGCGGGCAGGGTGACTTCCTTTTTCTGCCCACTCTGGTAACTTATTGCTCTGCTGGGCTCTTTCCCTTAGGGTCTCTGGCCCTGTTCTTGCCCCAGCATGACTTTTATCGGGACGCCGTTGTGGAAGCCTCACGCAGGAGCCCTGCCCCCGTGGAGAAGATCCCACTGGTGACTCCAACCCTACCACCATGAATGGGGTCCTGATCCCCCATACGCCCATCGCAGTGGACTTCTGGAGCCTGCGCCGGGCTGGCACCGCACGTCTCTTCTTCTTGTCTCACATGCACTCGGACCACACCGTGGGCCTGTCTAGCACCTGGGCCCGGCCCCTCTACTGCTCCCCAATTACAGCCCACCTCTTGCATCGTCACCTACAGGTATGGGGCTGGAGTCGGTCTCCGAGAGCTGGTCCAGGCATCTGGGTTGGGACTTCAACCTGTCATTCTTGGAGTCATAGAATGGGGGCCACGAAAACTGATTTGGAAGTTGTTTGAACCCAAAAATGCATCTTTAACCCAGAATAGGAACGTGTTTTCGAAGTGACCAACTTGAGATAGTTAGCCATAAGTTGAGGAGATATTTTAATCCAGCCAAGGAAACTATTCCTACCTTTATAAGTAAGCTAGGCCGATGTTTCCCAAACTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCTGAGTAGCTGAGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTTTGTATTTTTTGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCTAACTCCTGACCTTAAGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACCACGCCCCGCCTAAACTTGCCTCATCTTAAGAATCCACCTAATGTGCTGGGTGGTTCTCCAGCTCTCTCCCCACCCCACCCTTAAGTCTCCAAGAGATTAAGATCAGGAGTAAGTTTGGGAATTGCTGACTAGACTGTTTGCTGAACTCTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAAACTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTNN
|
pathogenic
| 13,385 |
A genetic alteration at chromosome 1, position 114708672, in gene NRAS (NRAS proto-oncogene, GTPase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
AAAATGTTTAAATACGTGATACTGAGTTTTCCAGTCATGGTAAAGGGTTTGTGCTAACTGACCTCTTCTTTCCTTGCAGGGCTAACTGCAGCTACCTAGCAAAATTACTAGCTGGAGTTACTGGTGCAATGAGCAAATGCAGAAGAATTTCTTTCTCTGTGATGCTAACTGGATTGTTCAAGTTTTGAAACTGTGACCCTGGTCCATTAGCACCATGCTTTACTCAACTGAAATAATCAAGCCCCTATTGCTGTGGGGGAAGCTGTAGAGGGTGGGGTGAGAAGGGGATTGAAGGCAATTATATACATCATTAAGATACCATGATATACAGTGAAAATGTAATTTGTTAATATACTATATTTGAGGTTTGAAAATCACTGATCACAGCTATTAAATAACAATGCACCAAAGTTTTACAATATTTGAACATCTGCAAATGTAGAGCTTTCTGGTATGACACAAATTTGAATACAAATGGAAGTTCATTGAATATTAGGTTTATCAGTAAGCTAGGGGAAACAAATTACATACATTGTATAGGTAGTAACCTATGAAAAAAGTGGAGATTAGGTAAAAATTATTAAGTGAAATTATTCATGTGCTTTCAGTTTCATCTTTCTCCTGGGAAAGCCCCAAAACAGGCCTCTGGAAAACCAATTTCATACATGTACAAAATGGCATCTGCTCTCAAATAGATATAGCTTTCCTTCAATGGTAGATAAGTCACAGACGTATCTCAGACATTCATTTCATGCATAAGGATTTTTGAGACATCTATTCCACTGAAATATTATAAAGGAAGTCTACAAACCACTTCTAGGAAAAAGGCACTTCACTGTGAAAGTTGGATTTAATTACGTCAAAGTTGTGAAGACTAGGATAGACTCAAAATTCAGTATTCATTTTTGTATTTATGAATCTAGAGCAGATGCCAGTTTAGAGAATAGAGCCGATAACATTATAAACAAACCAAACAGCAATAATAACTATATTCTTGGCAAAACAGTAATTTATGACATTTCTCCAAAAATTAGCATAGTTCTAAGTTCAACAGTAAAAAGAAAAAAAAAATCACCAGCAGTTGCTACTTTAGAGCTCAAGACACTGTTTTCAATAGAATTTCACGTTTGCGGTTTGGTTCTCTGTTTCAGACATGAACTGCTTTTCAGATGAAAAACCTGGGGTGGCAGAGGTGTGTTTGTGCTGTGGAAGAACCCAGGGCAGAAAAATAACAGGGAGTAACAAGAGGTGCATTCTCTGGTCAGACAGCCAAGTGAGGAGGTAGTTATTCTGAGAACTTCTCAAATAGAGATTATTGTACTAAACTACTGAGAGCTGGGGAAGTAGCAGGAGCTTCTCTGTGAGACTGAAGACAGCAACAGGAATACTTCTCCTCCAGGGAAGTCAGGACCAGGGTGTCAGTGCAGCTGAAATAGAAACAGAATTTGTATAAGTGACACATTCAGAGTATAAGAAAAACAAATATACAAAATTAACAGGAATGAGAATACATTTCCAAACTTGTCCTACCTTGAAAGTGGCTCTTTTCTGACAAAACTTTAAAAGTATCTGTAAAAAAAGAACAGAAACCATGTCCTTATTAACTAGTTTCAAAGTAGTGATCCTTCAAATTCCTGGTCATTGCCAGGAATAGGGTATGCCTACATTTCATAAATAATGTCTTATAATTTCTAATGTTACCAAAAATATAAAGATACCTGTGGAATAATCAAATGTTTTAAACACTTTAGACCTCAGTACTTTCAGAAAGGGTGTCATATGGAAAATGTGCAGAAGAGGATAGGCAGAAACTCAAAAAACATATAGACAATAACACCAGCACTCCTCCAAATTGCCCAATACTATATACTAAGATTTGTAATTATGCCAAGAAACCATATGCTCACCTTGTTACATCACCACACATGGCAATCCCATACAACCCTGAGTCCCATCATCACTGCTGTTGAGTTTTTTCATTCGGTACTGGCGTATTTCTCTTACCAGTGTGTAAAAAGCATCTTCAACACCCTATAAAAGGAAAAAATGAAAAAAAATGAGAGAGCTAGCTCAACGGACACAATCCAAATTATAAGCTCTCTTGCATTTGTATCTCTTTATGTGGACATAAGATTCCAATTACTAAACGAATAGCTGATAAAATAAAATATGGTGATTTAAGGAAGAGAACACTAAATTTCACATTCCTATTGAATCACAAGAACAGGCTGATATAAAAATGGCACATTTTGCCAAATAAACATTCATGCAAAGGAAAAGGGTAATGTGAGAAACACGGAACAAAACTACATTAAACTAAAGACTCCATTCAGGAGGCTTAAGCCATAAACGGGCTGGTGTTGACAGAGAAATAACTAATGTTTATAAATATTTTTAGTCAAGGATCTTCCCAAGAAATATTTGTGGATGTTAATGCAGGAGTAAACATGCCATAACAGAATATTAGTAAGTTCATTTTGGGTTTAAACAAGCGTTAAGAAAAAGAACACTACTAAAAATGCCTAACAACAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCCAGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTAAAACCCTGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGATGATGTGCCCGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGACAGAGGCTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCTTAGAAGATAGAGTGAGACTCTGCCTAAAAAAAAATAAAAAATAAAAAAATAAAAATGAAAAAAATGCATAACAACAAAGAATATGAATATGGATCACATCTCTACCAGAGTTAATCAACTGATGCAAACTCTTGCACAAATGCTGAAAGCTGTACCATACCTGTCTGGTCTTGGCTGAGGTTTCAATGAATGGAATCCCGTAACTCTTGGCCAGTTCGTGGGCTTGTTTTGTATCAACTGTCCTTGTTGGCAAATCACACTTGTTTCCCACTAGCACCATAGGTACATCATCCGAGTCTTTTACTCGCTTAATCTGCTCCCTAAAAACGGGAATATATTATCAGAACATAAGAAAAACAAGATTAGGCTGGGTACAGTGGCTCATGCCTGCAATCTCAGCACTTTGGGAGGCTGAGGAGGGCAGACTGCTTGAACCCAGGAGTTTGAGATTAGCCTGGGCAACATGGCAAAACCCGGTCTCTACAAAAAAATACAAAGATTAGGCTGGGTGCAGTGGCTCATGCCTGTATTCCCAGCACTTTGGGAGGTTGAGGTGGGCAGATCACAAGGTCAGGAGTTGAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGAAGATTGCAGTGAGCCAAGATCACGCCACTACACTCTAGCCTGGGCGACAGAGTGAGACTCCATCCCCCCCAACCCCCCCCAAAAAATATATATAAAATATATAAAAATAAATATATATTATATATATTATATATAAATATATATTTATATATAATTTATAATATATAAATATATATAATTTACACATATAAATATATATTTATATATATTTATAAATAAAAAATATATATACAATATATATTATAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTAATTGGGAGACTGAGGTGGGAGGATCACCTGGGTCCAGAAAGGTCAAGGCTGCAGTGAGCCATAATTGTTCCACTGCACTCCAGCCTGGGCAACAGGAAAAAAGAAAGAAAAGAAAGGGAAGAAAGAAAAGAAAAGAGAAAAGAAAAAGAGAAAGAAAGTGAGAGCGAGAGAAAGAGAGAGCGAGAGAGAGACAAGATTTCAGGAAGGAATAAATGGCTAGGGCAAAAAAGAAACTAGCAAATTTTATGTAGCCCTATTAACTTGTAGTATTTTTGCTTTTTTCTACCACTTAGAGAAGACATTGTATACTAAGG
|
AAAATGTTTAAATACGTGATACTGAGTTTTCCAGTCATGGTAAAGGGTTTGTGCTAACTGACCTCTTCTTTCCTTGCAGGGCTAACTGCAGCTACCTAGCAAAATTACTAGCTGGAGTTACTGGTGCAATGAGCAAATGCAGAAGAATTTCTTTCTCTGTGATGCTAACTGGATTGTTCAAGTTTTGAAACTGTGACCCTGGTCCATTAGCACCATGCTTTACTCAACTGAAATAATCAAGCCCCTATTGCTGTGGGGGAAGCTGTAGAGGGTGGGGTGAGAAGGGGATTGAAGGCAATTATATACATCATTAAGATACCATGATATACAGTGAAAATGTAATTTGTTAATATACTATATTTGAGGTTTGAAAATCACTGATCACAGCTATTAAATAACAATGCACCAAAGTTTTACAATATTTGAACATCTGCAAATGTAGAGCTTTCTGGTATGACACAAATTTGAATACAAATGGAAGTTCATTGAATATTAGGTTTATCAGTAAGCTAGGGGAAACAAATTACATACATTGTATAGGTAGTAACCTATGAAAAAAGTGGAGATTAGGTAAAAATTATTAAGTGAAATTATTCATGTGCTTTCAGTTTCATCTTTCTCCTGGGAAAGCCCCAAAACAGGCCTCTGGAAAACCAATTTCATACATGTACAAAATGGCATCTGCTCTCAAATAGATATAGCTTTCCTTCAATGGTAGATAAGTCACAGACGTATCTCAGACATTCATTTCATGCATAAGGATTTTTGAGACATCTATTCCACTGAAATATTATAAAGGAAGTCTACAAACCACTTCTAGGAAAAAGGCACTTCACTGTGAAAGTTGGATTTAATTACGTCAAAGTTGTGAAGACTAGGATAGACTCAAAATTCAGTATTCATTTTTGTATTTATGAATCTAGAGCAGATGCCAGTTTAGAGAATAGAGCCGATAACATTATAAACAAACCAAACAGCAATAATAACTATATTCTTGGCAAAACAGTAATTTATGACATTTCTCCAAAAATTAGCATAGTTCTAAGTTCAACAGTAAAAAGAAAAAAAAAATCACCAGCAGTTGCTACTTTAGAGCTCAAGACACTGTTTTCAATAGAATTTCACGTTTGCGGTTTGGTTCTCTGTTTCAGACATGAACTGCTTTTCAGATGAAAAACCTGGGGTGGCAGAGGTGTGTTTGTGCTGTGGAAGAACCCAGGGCAGAAAAATAACAGGGAGTAACAAGAGGTGCATTCTCTGGTCAGACAGCCAAGTGAGGAGGTAGTTATTCTGAGAACTTCTCAAATAGAGATTATTGTACTAAACTACTGAGAGCTGGGGAAGTAGCAGGAGCTTCTCTGTGAGACTGAAGACAGCAACAGGAATACTTCTCCTCCAGGGAAGTCAGGACCAGGGTGTCAGTGCAGCTGAAATAGAAACAGAATTTGTATAAGTGACACATTCAGAGTATAAGAAAAACAAATATACAAAATTAACAGGAATGAGAATACATTTCCAAACTTGTCCTACCTTGAAAGTGGCTCTTTTCTGACAAAACTTTAAAAGTATCTGTAAAAAAAGAACAGAAACCATGTCCTTATTAACTAGTTTCAAAGTAGTGATCCTTCAAATTCCTGGTCATTGCCAGGAATAGGGTATGCCTACATTTCATAAATAATGTCTTATAATTTCTAATGTTACCAAAAATATAAAGATACCTGTGGAATAATCAAATGTTTTAAACACTTTAGACCTCAGTACTTTCAGAAAGGGTGTCATATGGAAAATGTGCAGAAGAGGATAGGCAGAAACTCAAAAAACATATAGACAATAACACCAGCACTCCTCCAAATTGCCCAATACTATATACTAAGATTTGTAATTATGCCAAGAAACCATATGCTCACCTTGTTACATCACCACACATGGCAATCCCATACAACCCTGAGTCCCATCATCACTGCTGTTGAGTTTTTTCATTCGGTACTGGCGTATTTCTCTTACCAGTGTGTAAAAAGCATCTTCAACACCCTATAAAAGGAAAAAATGAAAAATGAGAGAGCTAGCTCAACGGACACAATCCAAATTATAAGCTCTCTTGCATTTGTATCTCTTTATGTGGACATAAGATTCCAATTACTAAACGAATAGCTGATAAAATAAAATATGGTGATTTAAGGAAGAGAACACTAAATTTCACATTCCTATTGAATCACAAGAACAGGCTGATATAAAAATGGCACATTTTGCCAAATAAACATTCATGCAAAGGAAAAGGGTAATGTGAGAAACACGGAACAAAACTACATTAAACTAAAGACTCCATTCAGGAGGCTTAAGCCATAAACGGGCTGGTGTTGACAGAGAAATAACTAATGTTTATAAATATTTTTAGTCAAGGATCTTCCCAAGAAATATTTGTGGATGTTAATGCAGGAGTAAACATGCCATAACAGAATATTAGTAAGTTCATTTTGGGTTTAAACAAGCGTTAAGAAAAAGAACACTACTAAAAATGCCTAACAACAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCCAGGTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTAAAACCCTGTCTCTACTAAAAGTACAAAAATTAGCCGGGCATGATGATGTGCCCGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGACAGAGGCTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCTTAGAAGATAGAGTGAGACTCTGCCTAAAAAAAAATAAAAAATAAAAAAATAAAAATGAAAAAAATGCATAACAACAAAGAATATGAATATGGATCACATCTCTACCAGAGTTAATCAACTGATGCAAACTCTTGCACAAATGCTGAAAGCTGTACCATACCTGTCTGGTCTTGGCTGAGGTTTCAATGAATGGAATCCCGTAACTCTTGGCCAGTTCGTGGGCTTGTTTTGTATCAACTGTCCTTGTTGGCAAATCACACTTGTTTCCCACTAGCACCATAGGTACATCATCCGAGTCTTTTACTCGCTTAATCTGCTCCCTAAAAACGGGAATATATTATCAGAACATAAGAAAAACAAGATTAGGCTGGGTACAGTGGCTCATGCCTGCAATCTCAGCACTTTGGGAGGCTGAGGAGGGCAGACTGCTTGAACCCAGGAGTTTGAGATTAGCCTGGGCAACATGGCAAAACCCGGTCTCTACAAAAAAATACAAAGATTAGGCTGGGTGCAGTGGCTCATGCCTGTATTCCCAGCACTTTGGGAGGTTGAGGTGGGCAGATCACAAGGTCAGGAGTTGAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGAAGATTGCAGTGAGCCAAGATCACGCCACTACACTCTAGCCTGGGCGACAGAGTGAGACTCCATCCCCCCCAACCCCCCCCAAAAAATATATATAAAATATATAAAAATAAATATATATTATATATATTATATATAAATATATATTTATATATAATTTATAATATATAAATATATATAATTTACACATATAAATATATATTTATATATATTTATAAATAAAAAATATATATACAATATATATTATAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTAATTGGGAGACTGAGGTGGGAGGATCACCTGGGTCCAGAAAGGTCAAGGCTGCAGTGAGCCATAATTGTTCCACTGCACTCCAGCCTGGGCAACAGGAAAAAAGAAAGAAAAGAAAGGGAAGAAAGAAAAGAAAAGAGAAAAGAAAAAGAGAAAGAAAGTGAGAGCGAGAGAAAGAGAGAGCGAGAGAGAGACAAGATTTCAGGAAGGAATAAATGGCTAGGGCAAAAAAGAAACTAGCAAATTTTATGTAGCCCTATTAACTTGTAGTATTTTTGCTTTTTTCTACCACTTAGAGAAGACATTGTATACTAAGGNNN
|
benign
| 13,426 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 114713997, gene NRAS (NRAS proto-oncogene, GTPase). What disease(s) is it linked to if pathogenic?
|
benign
|
CTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTAGTCCGAGCAACTTAACGGCTTTCAGCATACAGATACTGAATCTTTCAGCTGGCTACTTTCCTTTTCACAACAGTGACCAAATTTGTAGTCCACCTTTAGAAAGCCACTGGAACTTCATGCACAATCACAGAATATGCTCACTCCTAAATTTGTTTATTTTACCCTTATTTTTTTGGTCTCACTTAAGCCTATTTTTCATTAATCTTATCTTGCTCTACTATATGCATTTTCATAAGATGTTTTAAATACTCTTTGGTTTGAGCTAAGGCATATAGAAAAATGAATAAATTTCTTGTAAGAAAGAAGAAAAATGACTTCTAGAAATTCAAAAAACATTTATTAGATGCATGCCAAGTGTGGGCATTTTATTAAGTACTGCTATTACTTTTAGACAAAAAAAAAATGGGAAGTACAACAGGTTAGGAAAAGAACACTTGAATTCAGTGTTGGACCAATCTGCTTTTGAGAGCAGACATCTTCACATGGATAGAAAATAAGCCAAGACTCAAGCCTTTAGGCAGAACACTTAAGTAGCATTTACTGTGTGCCAGGCACTATTCTGAGTGATTTGCGTATTTATTAAAACTGTAATCTTCACAACTCTATGAGGTAGGTATTATTATTTCCATATTATAGGTTAGGAAAGCCACATAGCCCCTGAGTCACGTCGCTAATAAACAGAGCTAGGTTTCAATCCAGGCAGAGTTCTCATTCTTAACCATTATATTATTCTGTTTAAGAACACTGTGCTAAGAAAAAGGAGCTTTGGGTTTTTGGTCCTGGCTCTGCTACTAATAACAATCCTGACTCCAAAACCTAACAAACGACATTCTGAACTCTGTTTCTGATTCTGCAAAATAAGAATATTGTACTAGAATTTTTATGGTCCAATCTAGCTTTGAAACTTTATGGTTCTATGGACAAAGTCTATCTTTATGTTCCCTTGCTTTGTTTTCATCTTTATGGACTTCCTATTTGCTTACTCCTATCATTTTATTTTTTATTTTTTTTGGAGACAGAATCTTGCTCTGTTGATTAGGCTGGAGTGCAGCAGTGCAGTGGAGTGAGCATGCCTCGACCTCCTGAGCTCACGTGATCCTCCCACCTCTGCCTCCCGAGTAGCTGCCACCATGTGTGACTAATTTTTTTATTTTTATTTTTGTAGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTGAAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCACTGACATTCCAGGTGTGAGCCACTGTGCCTGGCCTATCTTTTCCATTACATACTGAAAGATGTTTCTTGGAGATGTTTTCCTCTCTGAAATTCCTTCGTGATCTCTAATTACAACAACTCTGGTTCCAAGTCATTCCCAGTAGCAAGCTTCACTTATGTATTATCAAACTTTATAGTAACAGTATATTATGTAAAATAAATTCCAGTATTAACTTTCAGTAATTACCCTAGATTCTCAATGTCAAACAACCTAAAACCAACTCTTCCCATAATTAAAAAGCTCTATCTTCCCTAGTGTGGTAACCTCATTTCCCCATAAAGATTCAGAACACAAAGATCATCCTTTCAGAGAAAATAATGCTCCTAGTACCTGTAGAGGTTAATATCCGCAAATGACTTGCTATTATTGATGGCAAATACACAGAGGAAGCCTTCGCCTGTCCTCATGTATTGGTCTCTCATGGCACTGTACTCTTCTTGTCCAGCTGTATCCAGTATGTCCAACAAACAGGTTTCACCATCTATAACCACTTGTTTTCTGTAAGAATCCTGGGGGTGTGGAGGGTAAGGGGGCAGGGAGGGAGGGAAGTTCAATTTTTATTAAAAACCACAGGGAATGCAATGCTATTGCCAAGGTTAAATAAGCATCTAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGGCCCTATATACATCATTTGTGTTTATGACTAAATATACAAATACCTTTGTTTCAGAGAAGGTTTTTTTTTTATCATGACAGATGTACCTTTGGGAAATATTCCTGAATCAAATTCTTAAAGGTTCCAAACAAGGTATAGTTATGTTTAATTTCTCAGGAAGACAAACATGCATAGATCATATAAAAAATACTTTCATTTTGGTTTTATGGCAACAGGACTTTTACTTGTATTTTAATGTCATCACACTTGGAGAACTCTCTGGAGTACTGGAAGTGCTCTATACTGTTATCTGGGTGGTAGCTACATGACTATATAGAAACGCAAAAAGCACTGGGCTGTAGACATAAAATTTATGTATTTTACTTATGTAAATTGCTCAATAAATCAAACATTTAAAAATATTTAATTAAAATATTAAACATTTCATGTAAAATATTAAAGCTGTTAAGCTCAAAATAAAGATTTTGCCAAGGGTTAGCAACCAATTTTTTATAGTGGCTACATTAGAGTTAGTTTTCATCAATTAAACACGAGTAGCCAGATGGTAGGGAGGCCAGGTGTTGATTAAAATAATCTCTAAAGTTAGGCATTTCTAAACTGAACAAAATTACAAAACCCTTTATTTATTTATCTATTTATTTATTTTTTGAGACGAAGTCTCGCTCTGTTGCCCAGGCTGGAGGTCTGTGGTGTGATCTCGGCTCACTGCACCCTCTGCCTCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGCAAAACCCTTTATTTAAAGAGCCTTAGGTGCCACTTACTGAAGACAATCTGTACCATGAACTCTCATAATAACAATAGAATCCCTAAGTACTATTACATAGTGCTTTACCATTCATAAATAACTTAAATATATTATTTAACTTTCCATAACATCCCTGTGTGGTAGGCAGGACAAGTTTATGGTAATTTAAAACATGAGGAAAATGAGGTTGGGAGAGATTCAGTTGCTCAATATCACACAACTAAATAAACTGCAAACAGGGACCAAAATCCTAGGCATAAAGACTAAAAATCTCAAGTTCTTGCTACTCCAATCATCTGGTCTCAGCTGCTTCAACTAGCTAATAAATAAATATTGAAGAACACTCATCTCTGAATCCTTTATCTCCATCCTATTATCTCCCATACAATCAGACAGTCTCGCTACTATGGCCTGTGTTTCTCATGTAATAGAGCTGTTATATATGAAGAAACTCATGAATGAACTCAACACTGAGTTTGCAATAGTTTACAGAACTGTTAAAAACTGGACAGGTTTTAGAAACTTCAGCAGCTAATAAAAATGAACTGTTCTCTATAAACACGTTAAGCTTATTGCATAACTGAATGTATACCCAAAATAACTTTTTACTTTCTCTCCTCTTATTCCTTTAATACAGAATATGGGTAAAGATGATCCGACAAGTGAGAGACAGGATCAGGTCAGCGGGCTACCACTGGGC
|
CTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTAGTCCGAGCAACTTAACGGCTTTCAGCATACAGATACTGAATCTTTCAGCTGGCTACTTTCCTTTTCACAACAGTGACCAAATTTGTAGTCCACCTTTAGAAAGCCACTGGAACTTCATGCACAATCACAGAATATGCTCACTCCTAAATTTGTTTATTTTACCCTTATTTTTTTGGTCTCACTTAAGCCTATTTTTCATTAATCTTATCTTGCTCTACTATATGCATTTTCATAAGATGTTTTAAATACTCTTTGGTTTGAGCTAAGGCATATAGAAAAATGAATAAATTTCTTGTAAGAAAGAAGAAAAATGACTTCTAGAAATTCAAAAAACATTTATTAGATGCATGCCAAGTGTGGGCATTTTATTAAGTACTGCTATTACTTTTAGACAAAAAAAAAATGGGAAGTACAACAGGTTAGGAAAAGAACACTTGAATTCAGTGTTGGACCAATCTGCTTTTGAGAGCAGACATCTTCACATGGATAGAAAATAAGCCAAGACTCAAGCCTTTAGGCAGAACACTTAAGTAGCATTTACTGTGTGCCAGGCACTATTCTGAGTGATTTGCGTATTTATTAAAACTGTAATCTTCACAACTCTATGAGGTAGGTATTATTATTTCCATATTATAGGTTAGGAAAGCCACATAGCCCCTGAGTCACGTCGCTAATAAACAGAGCTAGGTTTCAATCCAGGCAGAGTTCTCATTCTTAACCATTATATTATTCTGTTTAAGAACACTGTGCTAAGAAAAAGGAGCTTTGGGTTTTTGGTCCTGGCTCTGCTACTAATAACAATCCTGACTCCAAAACCTAACAAACGACATTCTGAACTCTGTTTCTGATTCTGCAAAATAAGAATATTGTACTAGAATTTTTATGGTCCAATCTAGCTTTGAAACTTTATGGTTCTATGGACAAAGTCTATCTTTATGTTCCCTTGCTTTGTTTTCATCTTTATGGACTTCCTATTTGCTTACTCCTATCATTTTATTTTTTATTTTTTTTGGAGACAGAATCTTGCTCTGTTGATTAGGCTGGAGTGCAGCAGTGCAGTGGAGTGAGCATGCCTCGACCTCCTGAGCTCACGTGATCCTCCCACCTCTGCCTCCCGAGTAGCTGCCACCATGTGTGACTAATTTTTTTATTTTTATTTTTGTAGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTGAAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCACTGACATTCCAGGTGTGAGCCACTGTGCCTGGCCTATCTTTTCCATTACATACTGAAAGATGTTTCTTGGAGATGTTTTCCTCTCTGAAATTCCTTCGTGATCTCTAATTACAACAACTCTGGTTCCAAGTCATTCCCAGTAGCAAGCTTCACTTATGTATTATCAAACTTTATAGTAACAGTATATTATGTAAAATAAATTCCAGTATTAACTTTCAGTAATTACCCTAGATTCTCAATGTCAAACAACCTAAAACCAACTCTTCCCATAATTAAAAAGCTCTATCTTCCCTAGTGTGGTAACCTCATTTCCCCATAAAGATTCAGAACACAAAGATCATCCTTTCAGAGAAAATAATGCTCCTAGTACCTGTAGAGGTTAATATCCGCAAATGACTTGCTATTATTGATGGCAAATACACAGAGGAAGCCTTCGCCTGTCCTCATGTATTGGTCTCTCATGGCACTGTACTCTTCTTGTCCAGCTGTATCCAGTATGTCCAACAAACAGGTTTCACCATCTATAACCACTTGTTTTCTGTAAGAATCCTGGGGGTGTGGAGGGTAAGGGGGGCAGGGAGGGAGGGAAGTTCAATTTTTATTAAAAACCACAGGGAATGCAATGCTATTGCCAAGGTTAAATAAGCATCTAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGGCCCTATATACATCATTTGTGTTTATGACTAAATATACAAATACCTTTGTTTCAGAGAAGGTTTTTTTTTTATCATGACAGATGTACCTTTGGGAAATATTCCTGAATCAAATTCTTAAAGGTTCCAAACAAGGTATAGTTATGTTTAATTTCTCAGGAAGACAAACATGCATAGATCATATAAAAAATACTTTCATTTTGGTTTTATGGCAACAGGACTTTTACTTGTATTTTAATGTCATCACACTTGGAGAACTCTCTGGAGTACTGGAAGTGCTCTATACTGTTATCTGGGTGGTAGCTACATGACTATATAGAAACGCAAAAAGCACTGGGCTGTAGACATAAAATTTATGTATTTTACTTATGTAAATTGCTCAATAAATCAAACATTTAAAAATATTTAATTAAAATATTAAACATTTCATGTAAAATATTAAAGCTGTTAAGCTCAAAATAAAGATTTTGCCAAGGGTTAGCAACCAATTTTTTATAGTGGCTACATTAGAGTTAGTTTTCATCAATTAAACACGAGTAGCCAGATGGTAGGGAGGCCAGGTGTTGATTAAAATAATCTCTAAAGTTAGGCATTTCTAAACTGAACAAAATTACAAAACCCTTTATTTATTTATCTATTTATTTATTTTTTGAGACGAAGTCTCGCTCTGTTGCCCAGGCTGGAGGTCTGTGGTGTGATCTCGGCTCACTGCACCCTCTGCCTCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGATCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGCAAAACCCTTTATTTAAAGAGCCTTAGGTGCCACTTACTGAAGACAATCTGTACCATGAACTCTCATAATAACAATAGAATCCCTAAGTACTATTACATAGTGCTTTACCATTCATAAATAACTTAAATATATTATTTAACTTTCCATAACATCCCTGTGTGGTAGGCAGGACAAGTTTATGGTAATTTAAAACATGAGGAAAATGAGGTTGGGAGAGATTCAGTTGCTCAATATCACACAACTAAATAAACTGCAAACAGGGACCAAAATCCTAGGCATAAAGACTAAAAATCTCAAGTTCTTGCTACTCCAATCATCTGGTCTCAGCTGCTTCAACTAGCTAATAAATAAATATTGAAGAACACTCATCTCTGAATCCTTTATCTCCATCCTATTATCTCCCATACAATCAGACAGTCTCGCTACTATGGCCTGTGTTTCTCATGTAATAGAGCTGTTATATATGAAGAAACTCATGAATGAACTCAACACTGAGTTTGCAATAGTTTACAGAACTGTTAAAAACTGGACAGGTTTTAGAAACTTCAGCAGCTAATAAAAATGAACTGTTCTCTATAAACACGTTAAGCTTATTGCATAACTGAATGTATACCCAAAATAACTTTTTACTTTCTCTCCTCTTATTCCTTTAATACAGAATATGGGTAAAGATGATCCGACAAGTGAGAGACAGGATCAGGTCAGCGGGCTACCACTGGG
|
benign
| 13,452 |
Does the variant impacting TSHB (thyroid stimulating hormone subunit beta) on chromosome 1, position 115034038, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Isolated_thyroid-stimulating_hormone_deficiency']
|
TGTAGGTCTTAAAGTCTTAATTTGGACTCTTTCAGAGCACTAGAACAATCTGCGTTTTTATTATTTGTGTTCATATTAGCTCCTCCACTGGACAGTCAGCCCTTTAGGTAAAGGACCGTAGCTTTTCCGTTTGTGTTTGTCAGTGCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTATATTTTATTTAATAGAACAAGCAAACAAGTTTATGTTCATAGACCACAATACTACTCCATTAAGGTATATATTTTCTTTACTGACAATGATACTTGAGAAGGAAAAAAATCCAAACACATCTAGCTAGCTGTACAATATTTGTAAGATTAAAAAAATTCTTCTTAATCTTCAAGGTGATCAACTTACATTCAAAAGTCTGAAATTTAATTACCCTTCCTCAGTAGTAGACCTAAAATAATTATGTCATAACATTATCCAGAGGGATAATGATATCAATATCAATATCATATCAATATCATATTGATATGATATATCCAATATGATATCATATCCAATATAACTATATCCAATCAATACATATTGATAATGATATCCAATTGATATTGAACAAGTTCTTCATCACGCAGGCTCTATTGAGATGCATGTTCTGTTTCTGCCTGAGGCACTGTGGATCCTCTATTTTCTTCCATGCATCCAAAAATTATTTAATATTCCTGGCTAACCCATAATGGAGCTGTCATCCTTGATTGTATTCTTCTAATTGTGTCAACCTTTTTTTTTTTTTTGCCTGTTAATCTTTTTGAGAACAAATTACATACCTGTTCTGTGTAAAATAATCTTTAATTTGTCCCAGCTGTACATATTTCCACCTTAAAGGGATATCCTAAGGGTTTGGAAGTGGGATCAGGGGGTTCCTAGATTTCTGAGTTAGCCCCTTAACACCAGTTGTAATTTCAGTTGACCTTTTTTGGACTTTATCTTTCTGGTGTCTTCCTTGACCAAATGGTAGAATTATAAGCATGATCATATGCATTGGGATGGTACTGAAGTTTGGTTATACTTTTTCTTGGTTTCTTTGCCCTTTCTGATTTTAACAAATAGGTTCTTTAATTTTATCTTTGATTTAGCATGACTGCTCTCTTTCTGATGTCCATGCTTTTTGGCCTTACATGTGGGCAAGCGATGTCTTTTTGTATTCCAACTGAGTATACAATGCACATCGAAAGGAGAGAGTGTGCTTATTGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAGTTCATGTCACTTCTTTTGGCTGTAAATTATATAAGCCCTGAAGAAGTCCATTCCTATATAGAAAGGAAATGAAATAAATCACAACCTCATTTCCCAAATCTAATGGTTATTGGCTCCTTAGAAGCAGAGTACACAGGTTACAATATTATGTGAATCTACTCAGCACAATGGATACGCATAATTTTATAACAGTTTTGTGTCCCAGCTTTACTTAAACCTTATCTTGTTCCCATGATCAACGATGAAAGAGAGGAGGGTCTCACTTTTGTCTCTGTAGAATTCAACGTGGTTAAGTTGGTATTGGAGAATGGGGCTAAGCAATTCTTTCCCAGTTGTATTTGTGATGAAGGAATATAAGTGAATTTATTTTTATGTTTCTATTATCTATATGTTTCCTAAAGTCCTGTCACATTATGCTCTCTTTTCTGTTCTTTCCCCAGGATATCAATGGCAAACTGTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTTCATCTACAGGACTGTAGAAATACCAGGATGCCCACTCCATGTTGCTCCCTATTTTTCCTATCCTGTTGCTTTAAGCTGTAAGTGTGGCAAGTGCAATACTGACTATAGTGACTGCATACATGAAGCCATCAAGACAAACTACTGTACCAAACCTCAGAAGTCTTATCTGGTAGGATTTTCTGTCTAATAGTGATATAATTTGCAATTTGGTTAAATGTGCTTGCCTGAAATAAAGCTAATAAAAATATTATGTTTCACATTATCTTCTGTTCATTTTGAGTACTATTTAATCCATACCCATACCTACACAGGCGTTAGAGAGCTTAAGTGGTTTTAGAAGAAAAGGTGAATGAATGGACCTTTTGGGCTCAGTTGAAGGTTGGTTTTCACGTGAAAGAGCAGAGTGGTGGTAAAATGGAGAACAGGGATATGAAATGCCAAAAAGCTCACCTTGAACAGTCTCTCCTAACAGAGGGCCAGGAGGTTTCTATGATATAGAAAGTGAATGTGGGATGACTACAGAGTTATGAAGAGAGAGTAATGTGATCAAAAGCTGAAGGAACACATGGTGTCAGGATACTGGAGACATCTACTTCCAAAGGCTAGAAGCAGGGCTGGCATGGAGGTGGGGAGTAAGGAGCATGTGGAATCTACAGTGGAGTGCTTTATTCCTGGTCATTCAAATGCACTGGATAAAACTCCACCCAAACTCAGAAGAGTCTAGGAACTATTTTCTTTAATTAATTACTCTGGTGCACCAAGTGACCTATGAAAGTTATACCCCAAAAAGTCAGTTTACAAAGCCTAGAAAAGAGGCCACGATCATTTTACATGTGGAAGTCTAAATCCTTTGTAGGCCTTCAAGTAATAGGAGATGCTTTTCAGCATTTATACCAAAAGTAACTGGTGCTGTTTTGACTTTTAATGTAATGAAAAACTGGTATGACAATAAAAGGTTTTAGGGATGGGGGAGAGTGCAAAGGGATTTGAGAGAGTGGAATTATTCTAAATTCTAATCTAAACCTTCATCAATATTGAAACACTGTTTTCTGGTAAATGTGCTTGGTAAGCAGCTGTTTATTTTTATTCTCCTTCCTTAGACACTCTTTCATGAGAATTTGGTTTCAACAGATGATTGACGTGAGACAGACCCAGTGCCCTGTAGACTTGATCTCAAAAAGTTGATATATCCTCTCTTTGTCCATTCCTTTTCATTCACACTGCCCCACCAAGGTGAAAAACAGTTGTCAGCAGGGCCAGTTGCCTTTGCTGTATTCTATAGCCACCAGTTAAATTCAGCTAGGCATACTGTAAATGTCTGTATGCTGATTGATAGTGCATGGGGTGGGCTGAGGAGGGTGGTGGTGGTAGTGGTGGGGTCCTGTAGATGGATTAGTACAACAGGGAGGGAATAGATGTGTATTTACATACAAAAGTCAGAACTCACATTATTTTACTTTAATATCTGAAATTGGTATTTGTGTGGTCTCCACATATTAATCTAGGGTTTTGTGTTCTCATATCAGCTGATAACATGGACATTTAAAGCTGCATACCACTTAAACTGTATGTCAAATACAGATCTTTAATAAATAAAAAGTCTAATGTTCAAATCTAACAGGGACTAGTCACAAATGCCTTCATGGATTCTGAAAAAGTTTTCTCAAGGATTTGAACTGTCTGAGTCTAAGTGCAATAAAAATTCTTTTATAAAGTTAACTTCCACTCTACTGTTCACTGTTGGGTTCTTCCCTACTTGCTTATCTCTCCTGGTTAATCCCCACTTATAAGACAACTCTATCTCACTTTCTCTACTTCTGCTACCCTCCTTCTACCTGCCGTTTCTGCCTGCTTAGCATCCATGTCTCTTCTTCTGGTAGCTGCACCTTGATTTCCCTCTGGGGTTCTCTTCACCTACAGTTTGAGTTCAAGTGGTTTCAGTGGGGATGATGAGGGTGGGTATGCTACTAGGCTCAACCAAACCTGGACTATTAGAAAGAGAAGTGGTTGGCCTGTTGGAGTTCCTAAACTGATAAAATGTGAGC
|
TGTAGGTCTTAAAGTCTTAATTTGGACTCTTTCAGAGCACTAGAACAATCTGCGTTTTTATTATTTGTGTTCATATTAGCTCCTCCACTGGACAGTCAGCCCTTTAGGTAAAGGACCGTAGCTTTTCCGTTTGTGTTTGTCAGTGCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTATATTTTATTTAATAGAACAAGCAAACAAGTTTATGTTCATAGACCACAATACTACTCCATTAAGGTATATATTTTCTTTACTGACAATGATACTTGAGAAGGAAAAAAATCCAAACACATCTAGCTAGCTGTACAATATTTGTAAGATTAAAAAAATTCTTCTTAATCTTCAAGGTGATCAACTTACATTCAAAAGTCTGAAATTTAATTACCCTTCCTCAGTAGTAGACCTAAAATAATTATGTCATAACATTATCCAGAGGGATAATGATATCAATATCAATATCATATCAATATCATATTGATATGATATATCCAATATGATATCATATCCAATATAACTATATCCAATCAATACATATTGATAATGATATCCAATTGATATTGAACAAGTTCTTCATCACGCAGGCTCTATTGAGATGCATGTTCTGTTTCTGCCTGAGGCACTGTGGATCCTCTATTTTCTTCCATGCATCCAAAAATTATTTAATATTCCTGGCTAACCCATAATGGAGCTGTCATCCTTGATTGTATTCTTCTAATTGTGTCAACCTTTTTTTTTTTTTTGCCTGTTAATCTTTTTGAGAACAAATTACATACCTGTTCTGTGTAAAATAATCTTTAATTTGTCCCAGCTGTACATATTTCCACCTTAAAGGGATATCCTAAGGGTTTGGAAGTGGGATCAGGGGGTTCCTAGATTTCTGAGTTAGCCCCTTAACACCAGTTGTAATTTCAGTTGACCTTTTTTGGACTTTATCTTTCTGGTGTCTTCCTTGACCAAATGGTAGAATTATAAGCATGATCATATGCATTGGGATGGTACTGAAGTTTGGTTATACTTTTTCTTGGTTTCTTTGCCCTTTCTGATTTTAACAAATAGGTTCTTTAATTTTATCTTTGATTTAGCATGACTGCTCTCTTTCTGATGTCCATGCTTTTTGGCCTTACATGTGGGCAAGCGATGTCTTTTTGTATTCCAACTGAGTATACAATGCACATCGAAAGGAGAGAGTGTGCTTATTGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAGTTCATGTCACTTCTTTTGGCTGTAAATTATATAAGCCCTGAAGAAGTCCATTCCTATATAGAAAGGAAATGAAATAAATCACAACCTCATTTCCCAAATCTAATGGTTATTGGCTCCTTAGAAGCAGAGTACACAGGTTACAATATTATGTGAATCTACTCAGCACAATGGATACGCATAATTTTATAACAGTTTTGTGTCCCAGCTTTACTTAAACCTTATCTTGTTCCCATGATCAACGATGAAAGAGAGGAGGGTCTCACTTTTGTCTCTGTAGAATTCAACGTGGTTAAGTTGGTATTGGAGAATGGGGCTAAGCAATTCTTTCCCAGTTGTATTTGTGATGAAGGAATATAAGTGAATTTATTTTTATGTTTCTATTATCTATATGTTTCCTAAAGTCCTGTCACATTATGCTCTCTTTTCTGTTCTTTCCCCAGGATATCAATGGCAAACTGTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTCATCTACAGGACTGTAGAAATACCAGGATGCCCACTCCATGTTGCTCCCTATTTTTCCTATCCTGTTGCTTTAAGCTGTAAGTGTGGCAAGTGCAATACTGACTATAGTGACTGCATACATGAAGCCATCAAGACAAACTACTGTACCAAACCTCAGAAGTCTTATCTGGTAGGATTTTCTGTCTAATAGTGATATAATTTGCAATTTGGTTAAATGTGCTTGCCTGAAATAAAGCTAATAAAAATATTATGTTTCACATTATCTTCTGTTCATTTTGAGTACTATTTAATCCATACCCATACCTACACAGGCGTTAGAGAGCTTAAGTGGTTTTAGAAGAAAAGGTGAATGAATGGACCTTTTGGGCTCAGTTGAAGGTTGGTTTTCACGTGAAAGAGCAGAGTGGTGGTAAAATGGAGAACAGGGATATGAAATGCCAAAAAGCTCACCTTGAACAGTCTCTCCTAACAGAGGGCCAGGAGGTTTCTATGATATAGAAAGTGAATGTGGGATGACTACAGAGTTATGAAGAGAGAGTAATGTGATCAAAAGCTGAAGGAACACATGGTGTCAGGATACTGGAGACATCTACTTCCAAAGGCTAGAAGCAGGGCTGGCATGGAGGTGGGGAGTAAGGAGCATGTGGAATCTACAGTGGAGTGCTTTATTCCTGGTCATTCAAATGCACTGGATAAAACTCCACCCAAACTCAGAAGAGTCTAGGAACTATTTTCTTTAATTAATTACTCTGGTGCACCAAGTGACCTATGAAAGTTATACCCCAAAAAGTCAGTTTACAAAGCCTAGAAAAGAGGCCACGATCATTTTACATGTGGAAGTCTAAATCCTTTGTAGGCCTTCAAGTAATAGGAGATGCTTTTCAGCATTTATACCAAAAGTAACTGGTGCTGTTTTGACTTTTAATGTAATGAAAAACTGGTATGACAATAAAAGGTTTTAGGGATGGGGGAGAGTGCAAAGGGATTTGAGAGAGTGGAATTATTCTAAATTCTAATCTAAACCTTCATCAATATTGAAACACTGTTTTCTGGTAAATGTGCTTGGTAAGCAGCTGTTTATTTTTATTCTCCTTCCTTAGACACTCTTTCATGAGAATTTGGTTTCAACAGATGATTGACGTGAGACAGACCCAGTGCCCTGTAGACTTGATCTCAAAAAGTTGATATATCCTCTCTTTGTCCATTCCTTTTCATTCACACTGCCCCACCAAGGTGAAAAACAGTTGTCAGCAGGGCCAGTTGCCTTTGCTGTATTCTATAGCCACCAGTTAAATTCAGCTAGGCATACTGTAAATGTCTGTATGCTGATTGATAGTGCATGGGGTGGGCTGAGGAGGGTGGTGGTGGTAGTGGTGGGGTCCTGTAGATGGATTAGTACAACAGGGAGGGAATAGATGTGTATTTACATACAAAAGTCAGAACTCACATTATTTTACTTTAATATCTGAAATTGGTATTTGTGTGGTCTCCACATATTAATCTAGGGTTTTGTGTTCTCATATCAGCTGATAACATGGACATTTAAAGCTGCATACCACTTAAACTGTATGTCAAATACAGATCTTTAATAAATAAAAAGTCTAATGTTCAAATCTAACAGGGACTAGTCACAAATGCCTTCATGGATTCTGAAAAAGTTTTCTCAAGGATTTGAACTGTCTGAGTCTAAGTGCAATAAAAATTCTTTTATAAAGTTAACTTCCACTCTACTGTTCACTGTTGGGTTCTTCCCTACTTGCTTATCTCTCCTGGTTAATCCCCACTTATAAGACAACTCTATCTCACTTTCTCTACTTCTGCTACCCTCCTTCTACCTGCCGTTTCTGCCTGCTTAGCATCCATGTCTCTTCTTCTGGTAGCTGCACCTTGATTTCCCTCTGGGGTTCTCTTCACCTACAGTTTGAGTTCAAGTGGTTTCAGTGGGGATGATGAGGGTGGGTATGCTACTAGGCTCAACCAAACCTGGACTATTAGAAAGAGAAGTGGTTGGCCTGTTGGAGTTCCTAAACTGATAAAATGTGAGCN
|
pathogenic
| 13,479 |
Evaluate this variant at chromosome 1, position 115034182, gene TSHB (thyroid stimulating hormone subunit beta): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Isolated_thyroid-stimulating_hormone_deficiency', 'Pituitary_hypothyroidism']
|
GCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTATATTTTATTTAATAGAACAAGCAAACAAGTTTATGTTCATAGACCACAATACTACTCCATTAAGGTATATATTTTCTTTACTGACAATGATACTTGAGAAGGAAAAAAATCCAAACACATCTAGCTAGCTGTACAATATTTGTAAGATTAAAAAAATTCTTCTTAATCTTCAAGGTGATCAACTTACATTCAAAAGTCTGAAATTTAATTACCCTTCCTCAGTAGTAGACCTAAAATAATTATGTCATAACATTATCCAGAGGGATAATGATATCAATATCAATATCATATCAATATCATATTGATATGATATATCCAATATGATATCATATCCAATATAACTATATCCAATCAATACATATTGATAATGATATCCAATTGATATTGAACAAGTTCTTCATCACGCAGGCTCTATTGAGATGCATGTTCTGTTTCTGCCTGAGGCACTGTGGATCCTCTATTTTCTTCCATGCATCCAAAAATTATTTAATATTCCTGGCTAACCCATAATGGAGCTGTCATCCTTGATTGTATTCTTCTAATTGTGTCAACCTTTTTTTTTTTTTTGCCTGTTAATCTTTTTGAGAACAAATTACATACCTGTTCTGTGTAAAATAATCTTTAATTTGTCCCAGCTGTACATATTTCCACCTTAAAGGGATATCCTAAGGGTTTGGAAGTGGGATCAGGGGGTTCCTAGATTTCTGAGTTAGCCCCTTAACACCAGTTGTAATTTCAGTTGACCTTTTTTGGACTTTATCTTTCTGGTGTCTTCCTTGACCAAATGGTAGAATTATAAGCATGATCATATGCATTGGGATGGTACTGAAGTTTGGTTATACTTTTTCTTGGTTTCTTTGCCCTTTCTGATTTTAACAAATAGGTTCTTTAATTTTATCTTTGATTTAGCATGACTGCTCTCTTTCTGATGTCCATGCTTTTTGGCCTTACATGTGGGCAAGCGATGTCTTTTTGTATTCCAACTGAGTATACAATGCACATCGAAAGGAGAGAGTGTGCTTATTGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAGTTCATGTCACTTCTTTTGGCTGTAAATTATATAAGCCCTGAAGAAGTCCATTCCTATATAGAAAGGAAATGAAATAAATCACAACCTCATTTCCCAAATCTAATGGTTATTGGCTCCTTAGAAGCAGAGTACACAGGTTACAATATTATGTGAATCTACTCAGCACAATGGATACGCATAATTTTATAACAGTTTTGTGTCCCAGCTTTACTTAAACCTTATCTTGTTCCCATGATCAACGATGAAAGAGAGGAGGGTCTCACTTTTGTCTCTGTAGAATTCAACGTGGTTAAGTTGGTATTGGAGAATGGGGCTAAGCAATTCTTTCCCAGTTGTATTTGTGATGAAGGAATATAAGTGAATTTATTTTTATGTTTCTATTATCTATATGTTTCCTAAAGTCCTGTCACATTATGCTCTCTTTTCTGTTCTTTCCCCAGGATATCAATGGCAAACTGTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTTCATCTACAGGACTGTAGAAATACCAGGATGCCCACTCCATGTTGCTCCCTATTTTTCCTATCCTGTTGCTTTAAGCTGTAAGTGTGGCAAGTGCAATACTGACTATAGTGACTGCATACATGAAGCCATCAAGACAAACTACTGTACCAAACCTCAGAAGTCTTATCTGGTAGGATTTTCTGTCTAATAGTGATATAATTTGCAATTTGGTTAAATGTGCTTGCCTGAAATAAAGCTAATAAAAATATTATGTTTCACATTATCTTCTGTTCATTTTGAGTACTATTTAATCCATACCCATACCTACACAGGCGTTAGAGAGCTTAAGTGGTTTTAGAAGAAAAGGTGAATGAATGGACCTTTTGGGCTCAGTTGAAGGTTGGTTTTCACGTGAAAGAGCAGAGTGGTGGTAAAATGGAGAACAGGGATATGAAATGCCAAAAAGCTCACCTTGAACAGTCTCTCCTAACAGAGGGCCAGGAGGTTTCTATGATATAGAAAGTGAATGTGGGATGACTACAGAGTTATGAAGAGAGAGTAATGTGATCAAAAGCTGAAGGAACACATGGTGTCAGGATACTGGAGACATCTACTTCCAAAGGCTAGAAGCAGGGCTGGCATGGAGGTGGGGAGTAAGGAGCATGTGGAATCTACAGTGGAGTGCTTTATTCCTGGTCATTCAAATGCACTGGATAAAACTCCACCCAAACTCAGAAGAGTCTAGGAACTATTTTCTTTAATTAATTACTCTGGTGCACCAAGTGACCTATGAAAGTTATACCCCAAAAAGTCAGTTTACAAAGCCTAGAAAAGAGGCCACGATCATTTTACATGTGGAAGTCTAAATCCTTTGTAGGCCTTCAAGTAATAGGAGATGCTTTTCAGCATTTATACCAAAAGTAACTGGTGCTGTTTTGACTTTTAATGTAATGAAAAACTGGTATGACAATAAAAGGTTTTAGGGATGGGGGAGAGTGCAAAGGGATTTGAGAGAGTGGAATTATTCTAAATTCTAATCTAAACCTTCATCAATATTGAAACACTGTTTTCTGGTAAATGTGCTTGGTAAGCAGCTGTTTATTTTTATTCTCCTTCCTTAGACACTCTTTCATGAGAATTTGGTTTCAACAGATGATTGACGTGAGACAGACCCAGTGCCCTGTAGACTTGATCTCAAAAAGTTGATATATCCTCTCTTTGTCCATTCCTTTTCATTCACACTGCCCCACCAAGGTGAAAAACAGTTGTCAGCAGGGCCAGTTGCCTTTGCTGTATTCTATAGCCACCAGTTAAATTCAGCTAGGCATACTGTAAATGTCTGTATGCTGATTGATAGTGCATGGGGTGGGCTGAGGAGGGTGGTGGTGGTAGTGGTGGGGTCCTGTAGATGGATTAGTACAACAGGGAGGGAATAGATGTGTATTTACATACAAAAGTCAGAACTCACATTATTTTACTTTAATATCTGAAATTGGTATTTGTGTGGTCTCCACATATTAATCTAGGGTTTTGTGTTCTCATATCAGCTGATAACATGGACATTTAAAGCTGCATACCACTTAAACTGTATGTCAAATACAGATCTTTAATAAATAAAAAGTCTAATGTTCAAATCTAACAGGGACTAGTCACAAATGCCTTCATGGATTCTGAAAAAGTTTTCTCAAGGATTTGAACTGTCTGAGTCTAAGTGCAATAAAAATTCTTTTATAAAGTTAACTTCCACTCTACTGTTCACTGTTGGGTTCTTCCCTACTTGCTTATCTCTCCTGGTTAATCCCCACTTATAAGACAACTCTATCTCACTTTCTCTACTTCTGCTACCCTCCTTCTACCTGCCGTTTCTGCCTGCTTAGCATCCATGTCTCTTCTTCTGGTAGCTGCACCTTGATTTCCCTCTGGGGTTCTCTTCACCTACAGTTTGAGTTCAAGTGGTTTCAGTGGGGATGATGAGGGTGGGTATGCTACTAGGCTCAACCAAACCTGGACTATTAGAAAGAGAAGTGGTTGGCCTGTTGGAGTTCCTAAACTGATAAAATGTGAGCCTGGAGTTGCTGCTGGCCATCTTTGGCATCCCTTGGAAACAGCTAGCTGTCCAACCCAGTGGAGAGCAAGAGAGACTGAGGAGAGAGAGGCCTATTGATATCATTTGAGCCTAATCTGAAGCTGGCTTCACCCCTTAAAAGAAA
|
GCCTGGTTCAGATGCTCAATATATGTTTATCTAATTTATCTACAATTCTCATTCTAGGAATAGAAGGTTGATTGAAATGACCACTGATCTCTGGAATTTGACATTTAAAATAAATCCCTGGTAACCTGTGTAATGTGGTTTTCATGGTTTCTTATAAGTTGATTGAAAAAAAAATCCTGGTTAACCAAGGCCGAACCTATGAGGTTTCAGTTTACAGAGGTTTTAGTGTATATAGCTTAAAGATGCTGTTGGGATATAACTGACAGATTTGGGGAAATCTTGGTACTTCTGATTATTGAACAAAATATTTAGTAAATTATATTTTATTTAATAGAACAAGCAAACAAGTTTATGTTCATAGACCACAATACTACTCCATTAAGGTATATATTTTCTTTACTGACAATGATACTTGAGAAGGAAAAAAATCCAAACACATCTAGCTAGCTGTACAATATTTGTAAGATTAAAAAAATTCTTCTTAATCTTCAAGGTGATCAACTTACATTCAAAAGTCTGAAATTTAATTACCCTTCCTCAGTAGTAGACCTAAAATAATTATGTCATAACATTATCCAGAGGGATAATGATATCAATATCAATATCATATCAATATCATATTGATATGATATATCCAATATGATATCATATCCAATATAACTATATCCAATCAATACATATTGATAATGATATCCAATTGATATTGAACAAGTTCTTCATCACGCAGGCTCTATTGAGATGCATGTTCTGTTTCTGCCTGAGGCACTGTGGATCCTCTATTTTCTTCCATGCATCCAAAAATTATTTAATATTCCTGGCTAACCCATAATGGAGCTGTCATCCTTGATTGTATTCTTCTAATTGTGTCAACCTTTTTTTTTTTTTTGCCTGTTAATCTTTTTGAGAACAAATTACATACCTGTTCTGTGTAAAATAATCTTTAATTTGTCCCAGCTGTACATATTTCCACCTTAAAGGGATATCCTAAGGGTTTGGAAGTGGGATCAGGGGGTTCCTAGATTTCTGAGTTAGCCCCTTAACACCAGTTGTAATTTCAGTTGACCTTTTTTGGACTTTATCTTTCTGGTGTCTTCCTTGACCAAATGGTAGAATTATAAGCATGATCATATGCATTGGGATGGTACTGAAGTTTGGTTATACTTTTTCTTGGTTTCTTTGCCCTTTCTGATTTTAACAAATAGGTTCTTTAATTTTATCTTTGATTTAGCATGACTGCTCTCTTTCTGATGTCCATGCTTTTTGGCCTTACATGTGGGCAAGCGATGTCTTTTTGTATTCCAACTGAGTATACAATGCACATCGAAAGGAGAGAGTGTGCTTATTGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAGTTCATGTCACTTCTTTTGGCTGTAAATTATATAAGCCCTGAAGAAGTCCATTCCTATATAGAAAGGAAATGAAATAAATCACAACCTCATTTCCCAAATCTAATGGTTATTGGCTCCTTAGAAGCAGAGTACACAGGTTACAATATTATGTGAATCTACTCAGCACAATGGATACGCATAATTTTATAACAGTTTTGTGTCCCAGCTTTACTTAAACCTTATCTTGTTCCCATGATCAACGATGAAAGAGAGGAGGGTCTCACTTTTGTCTCTGTAGAATTCAACGTGGTTAAGTTGGTATTGGAGAATGGGGCTAAGCAATTCTTTCCCAGTTGTATTTGTGATGAAGGAATATAAGTGAATTTATTTTTATGTTTCTATTATCTATATGTTTCCTAAAGTCCTGTCACATTATGCTCTCTTTTCTGTTCTTTCCCCAGGATATCAATGGCAAACTGTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTTCATCTACAGGACTGTAGAAATACCAGGATGCCCACTCCATGTTGCTCCCTATTTTTCCTATCCTGTTGCTTTAAGCTGTAAGTGTGGCAAGTGCAATACTGACTATAGTGACTGCATACATGAAGCCATCAAGACAAACTACGTACCAAACCTCAGAAGTCTTATCTGGTAGGATTTTCTGTCTAATAGTGATATAATTTGCAATTTGGTTAAATGTGCTTGCCTGAAATAAAGCTAATAAAAATATTATGTTTCACATTATCTTCTGTTCATTTTGAGTACTATTTAATCCATACCCATACCTACACAGGCGTTAGAGAGCTTAAGTGGTTTTAGAAGAAAAGGTGAATGAATGGACCTTTTGGGCTCAGTTGAAGGTTGGTTTTCACGTGAAAGAGCAGAGTGGTGGTAAAATGGAGAACAGGGATATGAAATGCCAAAAAGCTCACCTTGAACAGTCTCTCCTAACAGAGGGCCAGGAGGTTTCTATGATATAGAAAGTGAATGTGGGATGACTACAGAGTTATGAAGAGAGAGTAATGTGATCAAAAGCTGAAGGAACACATGGTGTCAGGATACTGGAGACATCTACTTCCAAAGGCTAGAAGCAGGGCTGGCATGGAGGTGGGGAGTAAGGAGCATGTGGAATCTACAGTGGAGTGCTTTATTCCTGGTCATTCAAATGCACTGGATAAAACTCCACCCAAACTCAGAAGAGTCTAGGAACTATTTTCTTTAATTAATTACTCTGGTGCACCAAGTGACCTATGAAAGTTATACCCCAAAAAGTCAGTTTACAAAGCCTAGAAAAGAGGCCACGATCATTTTACATGTGGAAGTCTAAATCCTTTGTAGGCCTTCAAGTAATAGGAGATGCTTTTCAGCATTTATACCAAAAGTAACTGGTGCTGTTTTGACTTTTAATGTAATGAAAAACTGGTATGACAATAAAAGGTTTTAGGGATGGGGGAGAGTGCAAAGGGATTTGAGAGAGTGGAATTATTCTAAATTCTAATCTAAACCTTCATCAATATTGAAACACTGTTTTCTGGTAAATGTGCTTGGTAAGCAGCTGTTTATTTTTATTCTCCTTCCTTAGACACTCTTTCATGAGAATTTGGTTTCAACAGATGATTGACGTGAGACAGACCCAGTGCCCTGTAGACTTGATCTCAAAAAGTTGATATATCCTCTCTTTGTCCATTCCTTTTCATTCACACTGCCCCACCAAGGTGAAAAACAGTTGTCAGCAGGGCCAGTTGCCTTTGCTGTATTCTATAGCCACCAGTTAAATTCAGCTAGGCATACTGTAAATGTCTGTATGCTGATTGATAGTGCATGGGGTGGGCTGAGGAGGGTGGTGGTGGTAGTGGTGGGGTCCTGTAGATGGATTAGTACAACAGGGAGGGAATAGATGTGTATTTACATACAAAAGTCAGAACTCACATTATTTTACTTTAATATCTGAAATTGGTATTTGTGTGGTCTCCACATATTAATCTAGGGTTTTGTGTTCTCATATCAGCTGATAACATGGACATTTAAAGCTGCATACCACTTAAACTGTATGTCAAATACAGATCTTTAATAAATAAAAAGTCTAATGTTCAAATCTAACAGGGACTAGTCACAAATGCCTTCATGGATTCTGAAAAAGTTTTCTCAAGGATTTGAACTGTCTGAGTCTAAGTGCAATAAAAATTCTTTTATAAAGTTAACTTCCACTCTACTGTTCACTGTTGGGTTCTTCCCTACTTGCTTATCTCTCCTGGTTAATCCCCACTTATAAGACAACTCTATCTCACTTTCTCTACTTCTGCTACCCTCCTTCTACCTGCCGTTTCTGCCTGCTTAGCATCCATGTCTCTTCTTCTGGTAGCTGCACCTTGATTTCCCTCTGGGGTTCTCTTCACCTACAGTTTGAGTTCAAGTGGTTTCAGTGGGGATGATGAGGGTGGGTATGCTACTAGGCTCAACCAAACCTGGACTATTAGAAAGAGAAGTGGTTGGCCTGTTGGAGTTCCTAAACTGATAAAATGTGAGCCTGGAGTTGCTGCTGGCCATCTTTGGCATCCCTTGGAAACAGCTAGCTGTCCAACCCAGTGGAGAGCAAGAGAGACTGAGGAGAGAGAGGCCTATTGATATCATTTGAGCCTAATCTGAAGCTGGCTTCACCCCTTAAAAGAAAN
|
pathogenic
| 13,481 |
Variant on chromosome 1, at position 115701423, affecting CASQ2 (calsequestrin 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1']
|
TCTAGTTAATCAATTATTCATCCACCAACTCAATAAATGAGTATCTACTTTGTGATGGGCAAAGCGCTAAGTGCTAGGGATTCTAAGATAAATTCCTTGCCTCTAAGGAGCCTGCAATTTAGTGAAAGGACAGACATGCAAATATATGTTATACCTTAAATGATAAGTGACATGATCCAGGGATGCACAAATCACAGGGGGGAAGGGGCACCTTCAGGTCACCTAGACAATTGGATAAATGGTGCTATCACCCACCCAAACTAGGACTCCATGAAGAGGAGAAGATGTTTAGGGGAGAAGGCAATGAGTTCAGGTTTTGTTGTGTTGAGTCTGAAGTGCTTGTACAACAACAAGTCAAGATATCCAGAGGCAGTTGAATGAATGTGTCTAAAAATAAGGCAAGGAGTCAAGGTTAGAGACTCATATTTGGAGGTAATTAGCACATGGATAGTATTGATGGGCACGATGACATCATTTTGGAAGAGTATGTAGAGTTGAGATGCTGTGAAACACCATCATTCAAAGAGCAGGCAGAGGAAGAGGGGCTAGAAAGGAAAATAGAGAAGAAATAAGGAGGTAGGACTGGAGCCAGATGAGAATGAGCAGAGTCAGAAAAATCAAGATAGGATTTTCAACATTGTCTGAATATTTTCAAAATATGAGTTTAATGACAGAATTAGTTAGCTAGTATTCCACAAAAAGTATTGCTCTATTTTCAAAAAATTTGCACAGTGTCTTACACATGTGCTAAAAGATTGAGAAAATAAATTAGAAAATTATACTGCACACTTAACACTAAATCTACCAAGCACAATGTAACTTTTAGACAGCTCAGAAGGCACTTTGGGATTTTTTTTTTTTTCAGTGCCTCAGGGCATCAGTATGAACTCCAATTATTGTTGCCCTGGCCAATTGTGGGAGTACTGATAACTGGAGAGTTAATTGACTGCTGGATAAAGCAATCTTTAATCTAAATGGGAAGGCTCACTAGCAGCTACAGAGAAGGGGTATTCAGATCCCAGCTTAGGCTAGGAAGCCAGCTGACCCAATCAGAGACATGAACCCATCAGAAAAATGTAAAAGTTTTCATCTTTCTAGTTTTCCCCCACCCTCCACTCCTGCTGATGAATATGTGAGACTTGCCAACTAGAGGGAAGTTTAGAGAGCAAATCAACCTCCCATCCCAGTTTCCTAATATACTAGAAATGATGGTGACACCTGTACACATTTCAAGCCCTCTCCATAGCCATCCAAAGGCTTGAATATCCAAGTTCATAGTGATATGAATGACCATCACTTGAAATAAGTTTAACAAAGCCATGAGAATATGATTTATAAGTTTGCTTCCAAGGCTGAGCCTTCTCTAAGAAGGATCATCTTGGCTGGAGGAGGGATCCCAACTGATGTTCGAGGTATGGAGGGAGCTAAATCATTAATCATGTGTCTTCCCTGGGCTCTGATTAAAAGGTCACTCTATGCCTGTGAGTTAGAAAGCTGTCAATTTTGTTACTGTCATAATCAAAGACAAGTAAACTTGTGTTAGGGGATTGTTCACCCTAGACTGCCATGTTCAGGCACTGCCATGACCCTTGATGGTCCAGCAAAGAACAAGATCTGTTCCGTGACAGTCAAGACAGTCAACATGGGAATAATTTTTCTCCTGTCCCTGCTAAGTGGGATTGCTGCATTTGAAAAGGCATTTGCTGAATGATGCTGCTCCTGACGCAAAGGGAGTGGGAAAAGAGATGATGGAAAAGGGAAAGGAGCTGGCTGGGTGTGGGGCAGAATTGCTTGCTGCCACCTTGTGCTGTCTGTATGGTAGTGGGTGCTGTGATTTTGTTTTCATCAGAATTGTTTGGAGTTGGGCTATTCATCATCATCGTCATCACTGTCATCATTATCCTCTTCATCAGAATTATCATCATCATCATCATCTTCATCATCATCTTCAGTGTTTATCTTTCCAGAAAGCACATCCTCAATCCAGTCCTCCAGCTCCTCAGCAGTTGGAAGATCGTCATCATCTGGAATCTCCATCCAGACACTGTCAGCCTGCAGTGAGGGACAAAATGAATGAGTGGGTAAATGCATGAGGGCTGAACCAGACCAGGGATAGCCGTGCTGAATAGCTATGCTGAGTGCCCCCCGACTCTCTTACACTTATTAGGAACGTGCACATTGTTAAATGGAAATGCCAAACGGCAAAACGGTATGTGTAGTATACTGTTTGTGTTGCATAAAAGGAAATGTGTATTCCATTGCCCAGTGGAATATATATGACATTTCTGGTAATATACCCATGCAACAACCACCAGTGGTTCCCTCCAGGAATGAGACTAGGGGTTGGGTCAGGGGAGTAGGAAATACTTTTTACTTTGACCTTCTAATCTACTGTTCTGTTTTAAAATGTTTTCACTTGAGCATGTTTTAAAAGTAATGTATTATTATTAATTTTAAAGTAGCTTACAAAATAAATGAATGTAGAGTTCCCTAGGTGATTGAACACCTATCAACAGGGGAGAAAGACATTGCTAACTGGCCCCCATTCTTTTTTATTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGTGTTACAGGCACCCATGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCTTGGCCCCCATTCTTAAGAGATTCTATCTTAATTAAGTATGGCTCTAATAATCCTCTGTGATCATCCCTTTCTGTCCACTGTTTGCCTGATTGTATCTGTCCCCACTTGAGTTTTATGATGGTGGAGTTGTATGAGATGTATGGACTGAGATCTAAGATTTCCTCGCATTCTGCCAGTGTACCTCACTAGCCTGTCCCACCCTCGGTTCAACAATGCCTGAACTCTGAGGAGAAGCCCCTTACTCGCATATGATTTTCTTCCTTCCCTTCTGCAGGCCTGGTCTCCTGCCTGTAGAGTAGTTGCCTGCCTGGGATTCTAGGCCACAACGGCCCCATCACCCATTGTGCAGTGATGGCTCCTGGTGTGGGTTCCCTTTTGTAAAGAGACCTTTTTGTTTGCTGTTTGACTTTGGGGGTAAATACAGGAGAGTTTACTTGAAGGGAAAGTTCCAAATCAGTGATTCAGGAAAGGCTGGCCCCATAGGCAAGAAAATGTGCCCATGGAAGAGAGCCATGGAACCACAGATTGGGACTGGCTCGGAGACCAGGCGTGGAACACACTGGCAAGTTTCCTTGAGCAGGACCCCTGCCCTCTTCTGAAAAGGCTGGGCTACTATAGATGCTCTCACAATCTAAGCTGTGTAGCAGAAGACAGGGCAGGCCAAGGGTGCCTGAGCAAGCCTTCACAGGGGATACTCACATCTGTGACATTCACCACCCCAATCTGTGGCCTGAATAGGTCAATCTTGAAAGTCTTCTCCCAGTAGGCAACGAGCTGCAGCAACAAAAAAATAAGATTAGACAGCAGGCAGAGGGCATTCTCTGTTAAGGACCCACCCGCCGTCCCATCACAGTAACTAGGTCACCATTGGTTAAAGGTCTTCAAAACAGCTGTGAGCACTTAGCAAATTGAAGACTTGGCCCCAGCCTTCAAGCACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAG
|
TCTAGTTAATCAATTATTCATCCACCAACTCAATAAATGAGTATCTACTTTGTGATGGGCAAAGCGCTAAGTGCTAGGGATTCTAAGATAAATTCCTTGCCTCTAAGGAGCCTGCAATTTAGTGAAAGGACAGACATGCAAATATATGTTATACCTTAAATGATAAGTGACATGATCCAGGGATGCACAAATCACAGGGGGGAAGGGGCACCTTCAGGTCACCTAGACAATTGGATAAATGGTGCTATCACCCACCCAAACTAGGACTCCATGAAGAGGAGAAGATGTTTAGGGGAGAAGGCAATGAGTTCAGGTTTTGTTGTGTTGAGTCTGAAGTGCTTGTACAACAACAAGTCAAGATATCCAGAGGCAGTTGAATGAATGTGTCTAAAAATAAGGCAAGGAGTCAAGGTTAGAGACTCATATTTGGAGGTAATTAGCACATGGATAGTATTGATGGGCACGATGACATCATTTTGGAAGAGTATGTAGAGTTGAGATGCTGTGAAACACCATCATTCAAAGAGCAGGCAGAGGAAGAGGGGCTAGAAAGGAAAATAGAGAAGAAATAAGGAGGTAGGACTGGAGCCAGATGAGAATGAGCAGAGTCAGAAAAATCAAGATAGGATTTTCAACATTGTCTGAATATTTTCAAAATATGAGTTTAATGACAGAATTAGTTAGCTAGTATTCCACAAAAAGTATTGCTCTATTTTCAAAAAATTTGCACAGTGTCTTACACATGTGCTAAAAGATTGAGAAAATAAATTAGAAAATTATACTGCACACTTAACACTAAATCTACCAAGCACAATGTAACTTTTAGACAGCTCAGAAGGCACTTTGGGATTTTTTTTTTTTTCAGTGCCTCAGGGCATCAGTATGAACTCCAATTATTGTTGCCCTGGCCAATTGTGGGAGTACTGATAACTGGAGAGTTAATTGACTGCTGGATAAAGCAATCTTTAATCTAAATGGGAAGGCTCACTAGCAGCTACAGAGAAGGGGTATTCAGATCCCAGCTTAGGCTAGGAAGCCAGCTGACCCAATCAGAGACATGAACCCATCAGAAAAATGTAAAAGTTTTCATCTTTCTAGTTTTCCCCCACCCTCCACTCCTGCTGATGAATATGTGAGACTTGCCAACTAGAGGGAAGTTTAGAGAGCAAATCAACCTCCCATCCCAGTTTCCTAATATACTAGAAATGATGGTGACACCTGTACACATTTCAAGCCCTCTCCATAGCCATCCAAAGGCTTGAATATCCAAGTTCATAGTGATATGAATGACCATCACTTGAAATAAGTTTAACAAAGCCATGAGAATATGATTTATAAGTTTGCTTCCAAGGCTGAGCCTTCTCTAAGAAGGATCATCTTGGCTGGAGGAGGGATCCCAACTGATGTTCGAGGTATGGAGGGAGCTAAATCATTAATCATGTGTCTTCCCTGGGCTCTGATTAAAAGGTCACTCTATGCCTGTGAGTTAGAAAGCTGTCAATTTTGTTACTGTCATAATCAAAGACAAGTAAACTTGTGTTAGGGGATTGTTCACCCTAGACTGCCATGTTCAGGCACTGCCATGACCCTTGATGGTCCAGCAAAGAACAAGATCTGTTCCGTGACAGTCAAGACAGTCAACATGGGAATAATTTTTCTCCTGTCCCTGCTAAGTGGGATTGCTGCATTTGAAAAGGCATTTGCTGAATGATGCTGCTCCTGACGCAAAGGGAGTGGGAAAAGAGATGATGGAAAAGGGAAAGGAGCTGGCTGGGTGTGGGGCAGAATTGCTTGCTGCCACCTTGTGCTGTCTGTATGGTAGTGGGTGCTGTGATTTTGTTTTCATCAGAATTGTTTGGAGTTGGGCTATTCATCATCATCGTCATCACTGTCATCATTATCCTCTTCATCAGAATTATCATCATCATCATCATCTTCATCATCATCTTCAGTGTTTATCTTTCCAGAAAGCACATCCTCAATCCAGTCCTCCAGCTCCTCAGCAGTTGGAAGATCGTCATCATCTGGAATCTCCATCCAGACACTGTCAAGCCTGCAGTGAGGGACAAAATGAATGAGTGGGTAAATGCATGAGGGCTGAACCAGACCAGGGATAGCCGTGCTGAATAGCTATGCTGAGTGCCCCCCGACTCTCTTACACTTATTAGGAACGTGCACATTGTTAAATGGAAATGCCAAACGGCAAAACGGTATGTGTAGTATACTGTTTGTGTTGCATAAAAGGAAATGTGTATTCCATTGCCCAGTGGAATATATATGACATTTCTGGTAATATACCCATGCAACAACCACCAGTGGTTCCCTCCAGGAATGAGACTAGGGGTTGGGTCAGGGGAGTAGGAAATACTTTTTACTTTGACCTTCTAATCTACTGTTCTGTTTTAAAATGTTTTCACTTGAGCATGTTTTAAAAGTAATGTATTATTATTAATTTTAAAGTAGCTTACAAAATAAATGAATGTAGAGTTCCCTAGGTGATTGAACACCTATCAACAGGGGAGAAAGACATTGCTAACTGGCCCCCATTCTTTTTTATTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGTGTTACAGGCACCCATGACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCTTGGCCCCCATTCTTAAGAGATTCTATCTTAATTAAGTATGGCTCTAATAATCCTCTGTGATCATCCCTTTCTGTCCACTGTTTGCCTGATTGTATCTGTCCCCACTTGAGTTTTATGATGGTGGAGTTGTATGAGATGTATGGACTGAGATCTAAGATTTCCTCGCATTCTGCCAGTGTACCTCACTAGCCTGTCCCACCCTCGGTTCAACAATGCCTGAACTCTGAGGAGAAGCCCCTTACTCGCATATGATTTTCTTCCTTCCCTTCTGCAGGCCTGGTCTCCTGCCTGTAGAGTAGTTGCCTGCCTGGGATTCTAGGCCACAACGGCCCCATCACCCATTGTGCAGTGATGGCTCCTGGTGTGGGTTCCCTTTTGTAAAGAGACCTTTTTGTTTGCTGTTTGACTTTGGGGGTAAATACAGGAGAGTTTACTTGAAGGGAAAGTTCCAAATCAGTGATTCAGGAAAGGCTGGCCCCATAGGCAAGAAAATGTGCCCATGGAAGAGAGCCATGGAACCACAGATTGGGACTGGCTCGGAGACCAGGCGTGGAACACACTGGCAAGTTTCCTTGAGCAGGACCCCTGCCCTCTTCTGAAAAGGCTGGGCTACTATAGATGCTCTCACAATCTAAGCTGTGTAGCAGAAGACAGGGCAGGCCAAGGGTGCCTGAGCAAGCCTTCACAGGGGATACTCACATCTGTGACATTCACCACCCCAATCTGTGGCCTGAATAGGTCAATCTTGAAAGTCTTCTCCCAGTAGGCAACGAGCTGCAGCAACAAAAAAATAAGATTAGACAGCAGGCAGAGGGCATTCTCTGTTAAGGACCCACCCGCCGTCCCATCACAGTAACTAGGTCACCATTGGTTAAAGGTCTTCAAAACAGCTGTGAGCACTTAGCAAATTGAAGACTTGGCCCCAGCCTTCAAGCACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAA
|
pathogenic
| 13,557 |
Clinically, how would you classify the variant at chromosome 1, position 115705205, gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Cardiovascular_phenotype', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1']
|
ACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAGGAGCAAGGGGCCACAGGATTTTTTTTTTTAATGGAGATGTCCAGTGGTAGGAAATCTCCCACGCAAATATATGGCCTAGTGGGGACTAGGGATATTCAGGAATCTGGAAATCAGAATAGTCTGAAGATTTCTTCTTTGCAAAAACCAAGGCAAACACATAGAACTGGCCAGAAGAGAGTCTGGGCATGGTGGCTCATGCTTGTAGTCCCAGCACTTTGGGACTGGAGTCCAGGAGTTTGAAACCAGCCTGAGCAACATAGTAAGACCTTGTCTCTACAAGAAATTTTAAAAATTAGCTGGGCGTGGTGGCACATTTCTATAGTCCCAACTGCTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTGGGAGCTTAAGGCTGCAGTAAATTGAGATTATGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACCCTGTCTCAAAAAAAAAAAACAAAAAAAAACTGGCCAGGAAAACTGCAAACCATCTGCAAGCTTGTATAACAAAATAGTCAGATAAACTAGAAACACAACCAGGCAGAAGCTATATCAACAAAGCTGTACTGTATGCAGTCTTATATGGCCATGACTTTGTTATAATTACCCAGTGCTATGACATTGGTCTCAAGTGTCATGGAAGCCTCTGCCTTTGATTCACCCCCTCCTCTACATAGGGCTGATTTTCAGGACCCTTGAGATCCCTCTCAATTTTCTCTATTTAATCACAGTATCATCAGTCATGACCTATGCAACTAATGATAATTCCTGGAAGATAAAGTCATCATTCATAACCTAATGATAACTAAACTTGTACTGATTACTTCAATAAGCATTTACCTAAAGCAGTCGGTAGACCAGGCTTTAGCATCATGTAGACCTAGATTGGAATATCACATCTATCACTCACTAGCTTTAACCTCCCCAGCTATCATTCTCTCCACCTTGTGACAGGGATTATAATAGTACCTACTTCACAGGGTTGTTGAGAGGATTCGCTGTGATGAGGCATGTAAAGTATTACTCTAGTTCCAGGCATACAGTAGAATATATCAGCTATGCTTATTATCAGTACCAGTACTTATTATCAGCACCAGAACCAGTACCAGGGTTCAATACATGTAGTGTACAAATGCTGTTTATTCTTTTTTAAAAACTAAGTATAATCAAAAGTTTCGGGCCATTGATCATGCACACTAGCAAAAGTGTGGACTTGAAGTTTCTTTCACATTCATCGTAGGCTAGACACTATGCTAGGTCCTGGGGAGAACACGATGAACATGACAGGCACGCTCGCTTTCTCTCCACAAAGTTCTGAACTCGCTGAAAAATGTTCATCTCTGATTTTTATTACTTAGTAATTCAGGTGGCCTCAGAACGATGGTCCCCACCCAGAAAATAAAAGTAGTTCTGGGGACTGGGAATGGAGTGATGAGGGGCAGCTCTGGAGCTGCTGCCGAAGGAGTTTACCCTGCTCACTTGGGTGGGACCCCGAGGGTCAAGGGTTTTCAACTCCTGGACTCCAGGGAGTAAGCCGAATCCTTTCAGGGTCAGCACCAGGCCCCAAGTTCAATACTGCCCCAAGGGCCAAGACCTCCCACACTGGGTGAGGACCGCCACTGGGTTTCTTCAAGTGCCCCTGCCTATTTCACCTCCTCAGATGCTGAACGCAATCATGAGGTTGTGACAGCAACTGAGGGTGGGGCGCTGGCTGGAGCCACTCACCAGAGGAAAGTCGTCCGGGTCGATCCACAGGATGCTCAGATCGGGGTTGTCAGTATTGTCCCGGGCAACCTGTTTCAGGATCTCCAGGAATTCGTAGCCATCTGAAACAGGATTCAAGAGAGTTGAGTAACCCCTGCACATACACAGCTTCTAATGTGGAGAGCAGAGTGTGATTTTTCCACGAGGACTTCTTAGGACATTTGGTGCTCACCCTCAATTATAGGATTATTCTATAGAATGAGTCAGATGAGAGCTCCAGGCACAGAGCAGATTATACAAAGGAAACAATAAAAAATTTGAACAAAGGATTAAAAGTTCACAGAGAACTGGCTGGTTTTTCACTGGAAGCCAAACTTCATTTGTGAAAACTGCCCAGCCTTGGGTCAGAAAGTCAGTCACGGAACAGAGAAATTCCTGCCTGTCCTTACTGATCCTGTGCGATCTCTTGAAACAGATGCTTTGCTGTCCCCTAGAGTCCCCAATAACATTTGCTCTAAGGACCAAGAATGTCTAAGCCTGGACCCTTAGTTTTCTACAACCAGGAATTGCTAAAACCTTCAAACCAAACGAGCTTCTGATTTACAGTTGGTTTCACAGCTCTGAGATAGTAAATGGGGCTTCCCTCCCTCCCTCCCTCCCTATTTCCTTGTATACTGGGCCCTCCCTCTGTTCAGTCAGCAGCAGTCATTGCCCCAGGGGTGGGATGATTCCTAAGAAAAGCAGAGAGGAGCTTTATAAGCTTCAAGAACACAAACTTGTTAGCTTTAAAAGCCTAAACCTTGAAGGACTAGGAGCATACAATTTTTGCCATAAACAAAAATTTTAGGAGAACGTTTAGTAAGAGATAGCATACTCTCAACCCTCAGCACCACTCCCCAGCCCCCAGCTAGAAACAGAAAAAATAGTTTAGATTCTGGAAGGTCCCTGAGAATAATAAACTGTGCCTGTGTGTGTGTGCGTGCGTGTGTGTATGTGTGTGCGTGCGTGTGTGTATGTGTGTGTGCGTGTGTGTGTGCACGCGTGCATGTGCAGAAACACAAGCCATGTGTGCATGTGTGTCCACGTACAGAATCTCCATTGTTTCAGGGAATCCCAGAGTATAGAAGACCCATGATTTGTTTCAGAATTAAACTCAGGCAAATGAAAAGATCCCAGAATCCCTTAGAGAACCCCCTAGTATAGGAGCACTAGGGCAGAAAAGCCTGTCAGAAGGCCCCATGGAGTTGTCTTGTCATTCTGAGGAACTTGAACAGGTAACGATGACCCATACCAGATGTGCACCCCACTCAGATATGCCTGGGAACCAGAGAGACCCTGGATCCCTTGGGATAGTGGGGTTGGGGTGGAGGACCTTAATTATCAGCCCCAGCTTCCACCACTCAGTGGTATACACTCAAAATTGAAATTTAGGTTCAGTTCTAAATAATAAAGTTACATTTCTTGCATAGCTGAATTTGTGGCTTGAAATTTATACGTTGAATACAAGTAACTCACCAGCTACTTGGGAATTCAATTAACTGTGCTTTCTTTGCACAGTTTTTCTTCTTTTGTCTGGAGTCTCAGCAAACTTGAGCTCCTCCCTATGGCCTCTGTTTAGCAAACCTCTCCTCTCTCCAGGAATGCTAGCTTTTGTTTGGCTCTTTTGGACTCTTGGTAAAAGTTTTTTTCTACACTTCTTTATCTCTAATGCATTCCAGGCAAAACGCATACTATTCTTAGCAACTCTACTTTGAGTTTTTGAGTTGGTGTAGTCACTGTTGCTAGCTCACACTGAAGATTCAGGCTGAGCCCCCTTAGGCCTTATTACCTGGGAAGCACAGCGACCTCTAGTGGAGAAATAGTTCCTTTTTTTTTTTTTGTCTGTTGCCCAGGCTGGAGTGCGTGGTGGGATCATAGCTCACAGCAGCCTCGACCTCCCAGGCTCCAGTGATCCTCCTGTGTCAGCCTCACAAGTAGCTAAAACTACAGGTGTGTGCCACTATGCCCAGCTAGTCTTTTAAATTTTATTGTTTTATTTTGTGCAGACAGGGGTCTCACATTGTTGCCCAGGTTGGTTTTGAA
|
ACTTCAAATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAGGAGCAAGGGGCCACAGGATTTTTTTTTTTAATGGAGATGTCCAGTGGTAGGAAATCTCCCACGCAAATATATGGCCTAGTGGGGACTAGGGATATTCAGGAATCTGGAAATCAGAATAGTCTGAAGATTTCTTCTTTGCAAAAACCAAGGCAAACACATAGAACTGGCCAGAAGAGAGTCTGGGCATGGTGGCTCATGCTTGTAGTCCCAGCACTTTGGGACTGGAGTCCAGGAGTTTGAAACCAGCCTGAGCAACATAGTAAGACCTTGTCTCTACAAGAAATTTTAAAAATTAGCTGGGCGTGGTGGCACATTTCTATAGTCCCAACTGCTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTGGGAGCTTAAGGCTGCAGTAAATTGAGATTATGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACCCTGTCTCAAAAAAAAAAAACAAAAAAAAACTGGCCAGGAAAACTGCAAACCATCTGCAAGCTTGTATAACAAAATAGTCAGATAAACTAGAAACACAACCAGGCAGAAGCTATATCAACAAAGCTGTACTGTATGCAGTCTTATATGGCCATGACTTTGTTATAATTACCCAGTGCTATGACATTGGTCTCAAGTGTCATGGAAGCCTCTGCCTTTGATTCACCCCCTCCTCTACATAGGGCTGATTTTCAGGACCCTTGAGATCCCTCTCAATTTTCTCTATTTAATCACAGTATCATCAGTCATGACCTATGCAACTAATGATAATTCCTGGAAGATAAAGTCATCATTCATAACCTAATGATAACTAAACTTGTACTGATTACTTCAATAAGCATTTACCTAAAGCAGTCGGTAGACCAGGCTTTAGCATCATGTAGACCTAGATTGGAATATCACATCTATCACTCACTAGCTTTAACCTCCCCAGCTATCATTCTCTCCACCTTGTGACAGGGATTATAATAGTACCTACTTCACAGGGTTGTTGAGAGGATTCGCTGTGATGAGGCATGTAAAGTATTACTCTAGTTCCAGGCATACAGTAGAATATATCAGCTATGCTTATTATCAGTACCAGTACTTATTATCAGCACCAGAACCAGTACCAGGGTTCAATACATGTAGTGTACAAATGCTGTTTATTCTTTTTTAAAAACTAAGTATAATCAAAAGTTTCGGGCCATTGATCATGCACACTAGCAAAAGTGTGGACTTGAAGTTTCTTTCACATTCATCGTAGGCTAGACACTATGCTAGGTCCTGGGGAGAACACGATGAACATGACAGGCACGCTCGCTTTCTCTCCACAAAGTTCTGAACTCGCTGAAAAATGTTCATCTCTGATTTTTATTACTTAGTAATTCAGGTGGCCTCAGAACGATGGTCCCCACCCAGAAAATAAAAGTAGTTCTGGGGACTGGGAATGGAGTGATGAGGGGCAGCTCTGGAGCTGCTGCCGAAGGAGTTTACCCTGCTCACTTGGGTGGGACCCCGAGGGTCAAGGGTTTTCAACTCCTGGACTCCAGGGAGTAAGCCGAATCCTTTCAGGGTCAGCACCAGGCCCCAAGTTCAATACTGCCCCAAGGGCCAAGACCTCCCACACTGGGTGAGGACCGCCACTGGGTTTCTTCAAGTGCCCCTGCCTATTTCACCTCCTCAGATGCTGAACGCAATCATGAGGTTGTGACAGCAACTGAGGGTGGGGCGCTGGCTGGAGCCACTCACCAGAGGAAAGTCGTCGGGTCGATCCACAGGATGCTCAGATCGGGGTTGTCAGTATTGTCCCGGGCAACCTGTTTCAGGATCTCCAGGAATTCGTAGCCATCTGAAACAGGATTCAAGAGAGTTGAGTAACCCCTGCACATACACAGCTTCTAATGTGGAGAGCAGAGTGTGATTTTTCCACGAGGACTTCTTAGGACATTTGGTGCTCACCCTCAATTATAGGATTATTCTATAGAATGAGTCAGATGAGAGCTCCAGGCACAGAGCAGATTATACAAAGGAAACAATAAAAAATTTGAACAAAGGATTAAAAGTTCACAGAGAACTGGCTGGTTTTTCACTGGAAGCCAAACTTCATTTGTGAAAACTGCCCAGCCTTGGGTCAGAAAGTCAGTCACGGAACAGAGAAATTCCTGCCTGTCCTTACTGATCCTGTGCGATCTCTTGAAACAGATGCTTTGCTGTCCCCTAGAGTCCCCAATAACATTTGCTCTAAGGACCAAGAATGTCTAAGCCTGGACCCTTAGTTTTCTACAACCAGGAATTGCTAAAACCTTCAAACCAAACGAGCTTCTGATTTACAGTTGGTTTCACAGCTCTGAGATAGTAAATGGGGCTTCCCTCCCTCCCTCCCTCCCTATTTCCTTGTATACTGGGCCCTCCCTCTGTTCAGTCAGCAGCAGTCATTGCCCCAGGGGTGGGATGATTCCTAAGAAAAGCAGAGAGGAGCTTTATAAGCTTCAAGAACACAAACTTGTTAGCTTTAAAAGCCTAAACCTTGAAGGACTAGGAGCATACAATTTTTGCCATAAACAAAAATTTTAGGAGAACGTTTAGTAAGAGATAGCATACTCTCAACCCTCAGCACCACTCCCCAGCCCCCAGCTAGAAACAGAAAAAATAGTTTAGATTCTGGAAGGTCCCTGAGAATAATAAACTGTGCCTGTGTGTGTGTGCGTGCGTGTGTGTATGTGTGTGCGTGCGTGTGTGTATGTGTGTGTGCGTGTGTGTGTGCACGCGTGCATGTGCAGAAACACAAGCCATGTGTGCATGTGTGTCCACGTACAGAATCTCCATTGTTTCAGGGAATCCCAGAGTATAGAAGACCCATGATTTGTTTCAGAATTAAACTCAGGCAAATGAAAAGATCCCAGAATCCCTTAGAGAACCCCCTAGTATAGGAGCACTAGGGCAGAAAAGCCTGTCAGAAGGCCCCATGGAGTTGTCTTGTCATTCTGAGGAACTTGAACAGGTAACGATGACCCATACCAGATGTGCACCCCACTCAGATATGCCTGGGAACCAGAGAGACCCTGGATCCCTTGGGATAGTGGGGTTGGGGTGGAGGACCTTAATTATCAGCCCCAGCTTCCACCACTCAGTGGTATACACTCAAAATTGAAATTTAGGTTCAGTTCTAAATAATAAAGTTACATTTCTTGCATAGCTGAATTTGTGGCTTGAAATTTATACGTTGAATACAAGTAACTCACCAGCTACTTGGGAATTCAATTAACTGTGCTTTCTTTGCACAGTTTTTCTTCTTTTGTCTGGAGTCTCAGCAAACTTGAGCTCCTCCCTATGGCCTCTGTTTAGCAAACCTCTCCTCTCTCCAGGAATGCTAGCTTTTGTTTGGCTCTTTTGGACTCTTGGTAAAAGTTTTTTTCTACACTTCTTTATCTCTAATGCATTCCAGGCAAAACGCATACTATTCTTAGCAACTCTACTTTGAGTTTTTGAGTTGGTGTAGTCACTGTTGCTAGCTCACACTGAAGATTCAGGCTGAGCCCCCTTAGGCCTTATTACCTGGGAAGCACAGCGACCTCTAGTGGAGAAATAGTTCCTTTTTTTTTTTTTGTCTGTTGCCCAGGCTGGAGTGCGTGGTGGGATCATAGCTCACAGCAGCCTCGACCTCCCAGGCTCCAGTGATCCTCCTGTGTCAGCCTCACAAGTAGCTAAAACTACAGGTGTGTGCCACTATGCCCAGCTAGTCTTTTAAATTTTATTGTTTTATTTTGTGCAGACAGGGGTCTCACATTGTTGCCCAGGTTGGTTTTGAAN
|
pathogenic
| 13,571 |
The chromosome 1, position 115725557 genetic variant in gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCAT
|
benign
| 13,586 |
Is the chromosome 1, position 115725557 variant in CASQ2 (calsequestrin 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATAN
|
benign
| 13,587 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 115725557, gene CASQ2 (calsequestrin 2): what disease(s) if pathogenic?
|
benign
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANN
|
benign
| 13,588 |
The chromosome 1, position 115725557 genetic variant in gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANNN
|
benign
| 13,589 |
Variant at chromosome 1, position 115725557, gene CASQ2 (calsequestrin 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANNNN
|
benign
| 13,590 |
Clinical classification of chromosome 1, position 115725557, gene CASQ2 (calsequestrin 2): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANNNNNNN
|
benign
| 13,591 |
A mutation at chromosome position 115725557 on chromosome 1 in gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATA
|
TTTGCTATTACTATTTTAAAATACATTAATAAGACTCTTTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTAACTGCAACTTCTGCCTCCCAGATGAAAGTGATTCTCTTATATCAGCCTCCAGAGTAGGTGGGACTACAGGCGCCTGCCACCATACTCGGCTAATTTTTGTATTTTTTGGTAGGAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGTCACTATGCCTAGCGATAAGACCCTTTTAATATCTTTGAAAGGTTTAAATGTTAGGAAAGTTTGTTTCTATTGTGCTGAGTTGTTATTAAATAGTCCGCTCCTCTGGACTGGATTATTTACCCTTTGGTATCTTGTGAAATGTTTGCTCTACCTTCAAACATCCAAGTAAGTTACAGACCAGTAAAACAGTGTCAAGTTGCTCCCTGGTTCTGTTCATCCATCACTTCAAAGAATTAAACAGATAAATACTTCCGTGTTAATTCCTTTCTCCTCCTTCCCAGCCCTCACACCAAATGGCCCCTTGTGGGGACATAGTCACTCTGGGGAGGCATTCTGCAGAGAACACCAGGTTTGGCTCCAGATGGCTTATATTTAAGTTCCAAGAACTAATGGTTTTTAGTTATGTGTCTTTTAGTGATTAATCTGTATGAGCGTCAGTTTCTGACTATGTCAAACGGGGCTAAAATAGTATTTGGTTTTTGTTTGTTTGTTTGGGGAGACAGAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATTATCATGTCTCACTGAAGTCTCAAGCTGCTGTGCTCAAACAATCCTCCCACCTCAACTTCCCAAGGAGCTGGGACTACAGGCGTGCCCCACTATGCCCGACTAATTAATAATACTTGTTCTACATCACTTTCTAGAGCTATTGGAAGATCCAAATAAAAAGATGCATGAAATGCTTTGAAAAATGCTCCACAGCCTTTGTTATTTATGAACTTCTGTACATAAGGTGTGGGTTGGGGGTTTATCTCCAAGGCCCTCTATCTAACACTGTTTGAGCTGCCTGACATATTATCCATGACACAAACCTAGAAGACAAGTTGGCTCAGCTGCTTGCCAGTGCCTTCAGTTGATATTTTTAAAAAACAGCTACCATATAGTGAACTCTTCATATTCATCCTTATAAAAAGTCCCAATTTTAGATGAGGAAATTTAGACAGCTCAGAAAGGCCACAGGACTTGACATAGTACACAAAGCTACTAGGTGGCAGATTCTGGACTTGAACCCTAGTCTCTATTACTTTATAGCCTGAGTTCCTTCCACTGTGTTACTGTGTGGCTCTGATGATCAATGAACAGAAGCTATAGTCACTGCAGGAAATTAACTAAGAGCAATTTTGCCTAGTGAGTAGTACCAAAGAGGCTTGGATTGATCCATGGAGAACTGTGTTTTAATTGAGCATGAAGTTGTCCATGTTTTTGTTTTGTTTTGTTTCATTTTTTTGAAACAGTGTCTCACTCTGTTGCCCAGGCTGGAGCGCAGTGCCAGGATCACAGCTCATTGCAGACTTGACCTCCCAGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTCCAGGCACATGCGACCATGCTCGGTTACTTTTTGCATTTTTTTGTAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGCTCTCAGACACCTGAACTCAAGTGATCCCTGGCCCCGGCCTCCCAGAGTGCTGGGATTACAGTTCTGAGCCGTCGTACCCAATCTGTCCATGTTTCAAATACTCATCTAGACATCCACCTCAGCCAAATAAACTTGGTTTGAGTTTGGGGACTTAATCTAAGAAGCACTCCTCTTTGGGACTATACTCATCTCTACAAGGCAAAGAGAGTTTGCCTCTTTCTTACCCATGTTTCAAACATTTCTTCTGGGCGCAGGCGACGTAGAGTGGGTCTGGAAAAAAAAAAAAAAAGAAAGAGCTTCCTTGAGTAGGGATCACTGTGGCAGACACAGCAGCCACAGCATTATGAAATGTAAAATGAGATGATGCTTCCTTTGCAAGGCAGGGAGAGCCCTAAAAACCCACTTATCTTCTAAGGAAACAGACCTGCTCTACTCTGCTGTGTCAGACAGCGAGCTGGGCCAAGGCACTCAGCCTTTTCATAGACCCACTGATCCAAGAATTATAAAGTCTTTTACAAACAATGGGTCAGAGGGCACAGGGTCAGCTCATTCCCAGGGCAAGATGCCATTTCCTTCCTCACAGATAGCCACCACTCCAGAGAGCCCACAGCAGGCCTGGAATGAGAAACCTGAGGGGGAAAACAGGAAATCTCGGATTTTGTAGGTTAAAACTGCCTTTGTTTTATCATCTGGTGTATACATTGAAAGTCCTTTAGGGATATTTAGGGGAGCAGACAGGATCTATATTTTGCTCATAGTTTCATTTCTTTCTGAATATTGGCAAATAGTGCTGGACATATTAATATTTGCTCCTCCAAGTACTGCCTTCCTGAAGGAACTAGGACTGTCCAGGTGAGGGGGATCACAGTACTGCAGGTCCAATGAACACACTCGTGTACATGCCAGGTAGGGTGGAGGGACAAGCCAGTGAGTCCACTACCATGTTCCATATTCCCATATCTTCCCTCCCTCAAGAGCAGGGGTCAAAAAACTACAGCTGGTGGGACAAATCCAGCCAGGGCCTCCTGTTTTCCTAAATAAACTTTTACTGGTACACAGCCACACCCATTTGTTTATACATGATCCATGGCTGCTTTCATGCCACAGCCGCAGTTAAGTAGTTGCTACAGACGCCATCTGGCCCACAGAACCTGAAATATTTACCATTTTGTTCTTTACAGAAAAAGTTTGCTGATCCATGCTGGAGCTACACTAAGTGGTATCAAGCATTTCTCTCCCAGAAGTTCTATGCATAGAGTGTTCATCCTTGGCTAAGTTACTTAACTATTGAGTCCAATTCCTTGATCTGTAAAATTGGGATAATAATAATTACTCCCTAAGGTTGGAGATTAGATAAAATAGTTTCCCTAAAGCACTGGGCATGGTTATTGGTATATGGGAACTTTCACTAAATTGCTCTCATTCCTAGTATAGAATTTTATTTATATCTTGCCCTGGCTTTGAGGGGATTTGCTGACTGAGGGATTTATCAAACTCTGCTTGCAGGTGCAGACTTAGATTCAGAAGTAATAACATCCCTGCTAGTCATTACTGATCAACAAAGCCATACTACTGAGTTCTGTACTGCTGGGGTACTAACTAGGTTGTTGCTCTTGGCAGGTCTGAAATGTTAGCACAGAGAGGCTCCTCTCCATTCCCCAGACCCCAGGCCCCCAGCCCCCACATGCCATCTCAGGCACCTTTGGTGTTCCTTCACAAACTCCACCAGCTCCTCTTCTGTGTAAGGTTTGTTGGGGATGGCAATGGGCTCATCCATAAATGGCTCATAGAAGTCAACCTCATTCATCTTCAAAGATAATTTCTTTGCAACCTGTAACCATTAGAAATAAGACAAAGTTTATTTGAATACTAGTCTAGAATAGCAGTGTGTTGTCCATCTAAGATAAGTGTGTATGTTTTCCGGCAAAGACATAAAAACAGATGTACAGTTTTAACTTCAATGTTGAAGTGACAGGAACTTATCACCCAAGGCCTGGCTAGACTAATCTTCTTTTGTGATCAAAGAAGGAAAGATAGGAAGGAAAAAGACTTATCTAGCAAATGAGGGTCGGGCAGGGGCAGGGAGCAGTTGAGATGCGAAGTGGGAAATTTAATTCTACAATCACCATCACTCTACTGCATTTGCCAGGGCTGGATGGGAAGCAAATGCCAATGGAGCATATTTACTATCCTGTGTTGTATGGATTTAATGGAACCAATGTTGATAAAACAGGCAATTGATGGAGATCCTTAAGGCATATAGGTACTCAGAATCAGAACCCAACCCATTAGCCTGTCTTTGATCTGCTCATANNNNNNNN
|
benign
| 13,592 |
Classify the chromosome 1 variant at position 115732960 affecting gene CASQ2 (calsequestrin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_2']
|
TTTTCTCCTCTTCTGTCCTAGCACTCCCTGCTGGAAACCACTGAGGCTCTACCAGGTGCAGTCATGCCTTCTGGACTCCACCATCTCCCCTTGGACACCCCCTCCACCCCAACTGATGGATGCAAGTTCTTAAGCACCAAATGGCATCAGAGTCCTCTCAGTGCTCTCCCCTCTGTGTACCTTTGTCTCTTTAAATATTCTGAAATCCAACAAGGCTACATGAACACTGGCACTTATGACTCAGTGTCCTACAGAATTTGAATAAAGCATCTCTCTGAATTTTTAATCATAGCCTGACCTCACCTTTTTCATGGACCACAGGCATGAAGCTATACAGTTGCACTAGGAGGCACTTCTACAAACAAATACTACCCTGAGCTCAACGTTGAACCACCCCTCTAAAAACTAAGGCTTTGTTGCTGGACAAATTAATTGGCCTGCCTCTCTATTCCTTTCAGCTGGATTCTTACCCAGGAGCCTCTTTAGCCACACCTAGTCCATTAGAACCAAATGGTCCATCAGAACCATATGTCAGTAATGGATTCAGTTTCGGCTTCTCTGTTCCTCCCTTTCTCTACTAATATCCTATCCAATCCTCCCACTTCCTGGGCCTAGATGATTGCTTTCTTATGAACAATGGTGCTCATAGCTGGCTAACTATTACTGAATGCTTCCTGTGTGCCAAAAACCAGCTAGGCAGTTTGCATATATTGCTTCTTTCTCTGGAGTAAAGTAGGACAGAGCATTGACTTTGAAGTCAGGCTGGTCTGAGATTATAGCAAGCTTCTCAATTCAGTAACTACATGATCATGAAAAAATCACTTAATCTTTCAGCACCTCAGTTTCATCCTCTGTAGAATGAGGATACTAATTCCTCCCTTATGGGAGTGTTGAAAGGATGAAGTGAGAAAATCCATGTTAACTTCTTAGCACACACTCTGGCACAAAGAGACTTCTTAGCACAGACTCTGGCACATAAAAATTTTTTTGAATTTATTATTTTTTATATTTTTATTTTTTGAGAGAGGATCTCACTCCATTGCCCAGGTTGGAGTACAATGGTATGATCACAGCTCACTGCAGCTTCAACCTCCTGGGCTCAAGTGATCCTCCCACCTCAAGCCTCCCAAGTAGTTCGGACTACAAGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTCCAACTCCAAGGCTCATGCAATCCACCCCCGTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACAGCACCTGGCCCATAATAGACACTTAATACATGATAGCTTTTTTGATTATTCTTGCTCAAGATCCCTCCCAACTGTAATACAACTAATTAGGATAAACATTCTTCAAGTTTAGATTATGTTACTTGGATTATAGAGCACTCTTCTGGATCATAGGCTTGAAGACTGGGCCATGTCTACAGAAGTGGTTCATCATATACATGAACTGAATGCAATCTCATCCCACCACGTCCCTTCCCTGCTTCAGCTCACTGACTTCCTCTTGTTTTTCGCAGAACACTTGCTTGAACTAATCACAGAGGAGTTCCCATTCTACTTCCCATCCTGACGCAGTAGAAGGGGAAGTATGCAACCCCAGGAAGGGAGAGGATACCCCCTAAGGAAAAAGGAAGCAGTGGCTCAGTGGGCTGGCACACTCTGGGCCCACACGTTTCCCATCTCAGTGTATAAGAAGATAATGGTGGGTCATCACTTTTCCTTGGATGTTTTCATAAATATCCTTACATCCTCTGACTTAGTCATCTTTGTACTCATCTTAAATCCAATAGTGATTTAGTGATATAATTCTTAACCCTTCTAGAGAAAGAGGCAAGGGAGGATGGTTAATGTTGCTAAAAGAAAAGAAAGAGTGGTGAGAGTTCAAACTTTAATTCTTCATGCCTACAAAACTGTTCAAATTGGGGTTTCATAGGTACTTACCCCTTTGTCAAAGGTGGCAAAGAATTTGATGTAAGGCTGGAAGTGTTCAGCTGCTTCTTCAAAAGCCTTGTAGTCTAAGGGGAAAAATAAAGATGAAGGGAGAGACATTTTCAAGATGAACACAGAAGAATCTTCTTTTTAAATGGTGTAGAGAGTAGAAAGCCAATTAATCCTGATTGGATAATAATTTAGTAGGTATTGTTTACATAGATGTTATTTAATATTATTTAAGCCCATAGTTCCCCCCAAGGAGTTGGAATTGACTGGCATTCAAACGCCCAAGAGAAGACCCATTCACCACACTTTTATGAACTGCAGGTAGAAAGCACGAAACAGAGGGAACCGGGAGGAAAAGAGAGAGAAAAAGACGCGTAAAACTCCAAACCAAAATAAAAAGACCTTTCATTCTAACTCACTGCTACTTATAATCATGCCCTCTAGAGAGAGTGCAGTTTGCCAGAATAAATGAGCCCTAAGTAAGAAGGAAATTCGTCTCACAGTGTAAAGTAACCTCAATCACAATTGACATCACAGAAGTATTTTAAACTTCTTCATGGAAGTACTCCTGTTGCTGAATTCTAGTTTTCTTTCCCTTTTTTTCATTTTAAAGTTTTCTTTTTTATTCTGATGCCTCAAGAGGATTTCTTAAACTTAATCAAGCTCTTGATTGACTATGGTCTCAAACTTGAGTCCATACTGGCCGAGGCAGTATGAGATCAGGTGAGTGTGGGAGTGCTGTACCTTGGTACACCTGGGGAGTTACTTGGGAAAGAGATTTGTCCTCAAACCTTAGTTGTGAGGGTGATGGTAATTGTGGTGGTGGTGGTGGTGGTTATGAATAAATGCTATAAGCCTGAGAGTCAATGAGCCTGTGATTTATTCTTAACAAGATTAGCTTCTTTCCATTTCATGGAATTCCATTTCCCTTAACCGTGTGAAGTATAAGCCTTTGTTAGAATTCTGGGACCATGCAGAATTTACTAAGATTCTATCAAAATTTTTTTAGAACAATGTTAATCCAGAGGATACCAAAATGAATAAGACAAAGATACTGATCTTCAAAAGCTCTCAGCCTAGAGAGAGCTATTGATCCTTAAAGAATCAAAATGCAGCATGATAGTTGTTACAACAGAGGTGAGTGCCGCAAGCACAGGTGAGAGAGGGGTTGGAAAGTCATGAGAATACTTGCACATACTGATACACACTCACACTAACTTGTCCTCATAAAAGTAAGCAGGTAGTCAGAAAAGATATCCTGTAACATCATAGCTGGGGTCGAGAATTGGGTGGAGGGGAGAAGTTGGCTGAGAGCATTTGAAGAATGAATGGAGTGAAAGTAAGGAAGTAGAATGGCTAAAGCAACACCTAAGCCATCTGTGTCTAAAGCAGCAGTGGGCTCTATCAGAATCCTCTATCCCCCTCTTTTCCAATCCCCATGTCCCTGATGAATTTCTCTTCCCCTCCATGAACTCCCACCCTGTTGGAAAGAATGGCTTAGGCCTGTGTCAGGAGCTTCCCTTCCTCTCTTGGAGAGCTGGTCTACATCACTTTAAGATGAAGAATGGAGCAAGGTGACCTCCAGATGGGTGATTCAAAATGTGGCTTGACCTTTAGCCTCAGCCAAACAGCAGTTGTTTTCCAAGAAGCCTCCTCTTGTCTTCTGCTCTGTTGGAGCTCAGGTCATCTCTAGGCTTTCCCTGCCTCCTGACCAGCCTGTTCCTGGTCCCTTCCAGTCAGACCCCTTTCCCACTTTCTTTGATGACTCTTTTGGCTTCTGGAATAGGCTCCTGAACATTGAGTTCCCAGCCTCCAGCTTACTAAAAACTTATCTTAGCATTTTCTCTCCTTTCTTCCCCCTCTCTCAGGGTTGTGCGTACTGGATATTAGTATCACAGACGTTAGTAACTGGGTGTGGTTGATGGCACCAGTTAGAAACCCTGACCAGAAATGCTTGGAATAATATCATCTGTCTTACAAAGAAGAACCAAACCAATTTGTTGGGGATGAAACATTCAAAGAAGTAAATAAACATGTCAAAATAGATTCTGAAAGCACTGCACAAAATAAGTGTACACAATTAAATGTATAAACTTTATAGTGTATGAAT
|
TTTTCTCCTCTTCTGTCCTAGCACTCCCTGCTGGAAACCACTGAGGCTCTACCAGGTGCAGTCATGCCTTCTGGACTCCACCATCTCCCCTTGGACACCCCCTCCACCCCAACTGATGGATGCAAGTTCTTAAGCACCAAATGGCATCAGAGTCCTCTCAGTGCTCTCCCCTCTGTGTACCTTTGTCTCTTTAAATATTCTGAAATCCAACAAGGCTACATGAACACTGGCACTTATGACTCAGTGTCCTACAGAATTTGAATAAAGCATCTCTCTGAATTTTTAATCATAGCCTGACCTCACCTTTTTCATGGACCACAGGCATGAAGCTATACAGTTGCACTAGGAGGCACTTCTACAAACAAATACTACCCTGAGCTCAACGTTGAACCACCCCTCTAAAAACTAAGGCTTTGTTGCTGGACAAATTAATTGGCCTGCCTCTCTATTCCTTTCAGCTGGATTCTTACCCAGGAGCCTCTTTAGCCACACCTAGTCCATTAGAACCAAATGGTCCATCAGAACCATATGTCAGTAATGGATTCAGTTTCGGCTTCTCTGTTCCTCCCTTTCTCTACTAATATCCTATCCAATCCTCCCACTTCCTGGGCCTAGATGATTGCTTTCTTATGAACAATGGTGCTCATAGCTGGCTAACTATTACTGAATGCTTCCTGTGTGCCAAAAACCAGCTAGGCAGTTTGCATATATTGCTTCTTTCTCTGGAGTAAAGTAGGACAGAGCATTGACTTTGAAGTCAGGCTGGTCTGAGATTATAGCAAGCTTCTCAATTCAGTAACTACATGATCATGAAAAAATCACTTAATCTTTCAGCACCTCAGTTTCATCCTCTGTAGAATGAGGATACTAATTCCTCCCTTATGGGAGTGTTGAAAGGATGAAGTGAGAAAATCCATGTTAACTTCTTAGCACACACTCTGGCACAAAGAGACTTCTTAGCACAGACTCTGGCACATAAAAATTTTTTTGAATTTATTATTTTTTATATTTTTATTTTTTGAGAGAGGATCTCACTCCATTGCCCAGGTTGGAGTACAATGGTATGATCACAGCTCACTGCAGCTTCAACCTCCTGGGCTCAAGTGATCCTCCCACCTCAAGCCTCCCAAGTAGTTCGGACTACAAGTGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTCCAACTCCAAGGCTCATGCAATCCACCCCCGTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACAGCACCTGGCCCATAATAGACACTTAATACATGATAGCTTTTTTGATTATTCTTGCTCAAGATCCCTCCCAACTGTAATACAACTAATTAGGATAAACATTCTTCAAGTTTAGATTATGTTACTTGGATTATAGAGCACTCTTCTGGATCATAGGCTTGAAGACTGGGCCATGTCTACAGAAGTGGTTCATCATATACATGAACTGAATGCAATCTCATCCCACCACGTCCCTTCCCTGCTTCAGCTCACTGACTTCCTCTTGTTTTTCGCAGAACACTTGCTTGAACTAATCACAGAGGAGTTCCCATTCTACTTCCCATCCTGACGCAGTAGAAGGGGAAGTATGCAACCCCAGGAAGGGAGAGGATACCCCCTAAGGAAAAAGGAAGCAGTGGCTCAGTGGGCTGGCACACTCTGGGCCCACACGTTTCCCATCTCAGTGTATAAGAAGATAATGGTGGGTCATCACTTTTCCTTGGATGTTTTCATAAATATCCTTACATCCTCTGACTTAGTCATCTTTGTACTCATCTTAAATCCAATAGTGATTTAGTGATATAATTCTTAACCCTTCTAGAGAAAGAGGCAAGGGAGGATGGTTAATGTTGCTAAAAGAAAAGAAAGAGTGGTGAGAGTTCAAACTTTAATTCTTCATGCCTACAAAACTGTTCAAATTGGGGTTTCATAGGTACTTACCCCTTTGTCAAAGGTGGCAAAGAATTTGATGTAAGGCTGGAAGTGTTCAGCTGCTTCTTCAAAGCCTTGTAGTCTAAGGGGAAAAATAAAGATGAAGGGAGAGACATTTTCAAGATGAACACAGAAGAATCTTCTTTTTAAATGGTGTAGAGAGTAGAAAGCCAATTAATCCTGATTGGATAATAATTTAGTAGGTATTGTTTACATAGATGTTATTTAATATTATTTAAGCCCATAGTTCCCCCCAAGGAGTTGGAATTGACTGGCATTCAAACGCCCAAGAGAAGACCCATTCACCACACTTTTATGAACTGCAGGTAGAAAGCACGAAACAGAGGGAACCGGGAGGAAAAGAGAGAGAAAAAGACGCGTAAAACTCCAAACCAAAATAAAAAGACCTTTCATTCTAACTCACTGCTACTTATAATCATGCCCTCTAGAGAGAGTGCAGTTTGCCAGAATAAATGAGCCCTAAGTAAGAAGGAAATTCGTCTCACAGTGTAAAGTAACCTCAATCACAATTGACATCACAGAAGTATTTTAAACTTCTTCATGGAAGTACTCCTGTTGCTGAATTCTAGTTTTCTTTCCCTTTTTTTCATTTTAAAGTTTTCTTTTTTATTCTGATGCCTCAAGAGGATTTCTTAAACTTAATCAAGCTCTTGATTGACTATGGTCTCAAACTTGAGTCCATACTGGCCGAGGCAGTATGAGATCAGGTGAGTGTGGGAGTGCTGTACCTTGGTACACCTGGGGAGTTACTTGGGAAAGAGATTTGTCCTCAAACCTTAGTTGTGAGGGTGATGGTAATTGTGGTGGTGGTGGTGGTGGTTATGAATAAATGCTATAAGCCTGAGAGTCAATGAGCCTGTGATTTATTCTTAACAAGATTAGCTTCTTTCCATTTCATGGAATTCCATTTCCCTTAACCGTGTGAAGTATAAGCCTTTGTTAGAATTCTGGGACCATGCAGAATTTACTAAGATTCTATCAAAATTTTTTTAGAACAATGTTAATCCAGAGGATACCAAAATGAATAAGACAAAGATACTGATCTTCAAAAGCTCTCAGCCTAGAGAGAGCTATTGATCCTTAAAGAATCAAAATGCAGCATGATAGTTGTTACAACAGAGGTGAGTGCCGCAAGCACAGGTGAGAGAGGGGTTGGAAAGTCATGAGAATACTTGCACATACTGATACACACTCACACTAACTTGTCCTCATAAAAGTAAGCAGGTAGTCAGAAAAGATATCCTGTAACATCATAGCTGGGGTCGAGAATTGGGTGGAGGGGAGAAGTTGGCTGAGAGCATTTGAAGAATGAATGGAGTGAAAGTAAGGAAGTAGAATGGCTAAAGCAACACCTAAGCCATCTGTGTCTAAAGCAGCAGTGGGCTCTATCAGAATCCTCTATCCCCCTCTTTTCCAATCCCCATGTCCCTGATGAATTTCTCTTCCCCTCCATGAACTCCCACCCTGTTGGAAAGAATGGCTTAGGCCTGTGTCAGGAGCTTCCCTTCCTCTCTTGGAGAGCTGGTCTACATCACTTTAAGATGAAGAATGGAGCAAGGTGACCTCCAGATGGGTGATTCAAAATGTGGCTTGACCTTTAGCCTCAGCCAAACAGCAGTTGTTTTCCAAGAAGCCTCCTCTTGTCTTCTGCTCTGTTGGAGCTCAGGTCATCTCTAGGCTTTCCCTGCCTCCTGACCAGCCTGTTCCTGGTCCCTTCCAGTCAGACCCCTTTCCCACTTTCTTTGATGACTCTTTTGGCTTCTGGAATAGGCTCCTGAACATTGAGTTCCCAGCCTCCAGCTTACTAAAAACTTATCTTAGCATTTTCTCTCCTTTCTTCCCCCTCTCTCAGGGTTGTGCGTACTGGATATTAGTATCACAGACGTTAGTAACTGGGTGTGGTTGATGGCACCAGTTAGAAACCCTGACCAGAAATGCTTGGAATAATATCATCTGTCTTACAAAGAAGAACCAAACCAATTTGTTGGGGATGAAACATTCAAAGAAGTAAATAAACATGTCAAAATAGATTCTGAAAGCACTGCACAAAATAAGTGTACACAATTAAATGTATAAACTTTATAGTGTATGAATN
|
pathogenic
| 13,609 |
Gene CASQ2 (calsequestrin 2) variant at chromosome position 115740793 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_2']
|
TTTAGTGATTTTGAAATATGTAATACATATTATTCACTATATTCACCATGCTGTACAATATATCTCAAAGAACAAAATCTTATTTCTCCTGTCTAATTGAGGCTTTGCACCCTTTGATCATTATCTCTCCATTCCCACCACCCCCACCCCATCCTGCTTTTGGCAACTACTCTCTGCTTCTCTGAGTTCTCGTGTTCTAGATTCCACATATAATAAGTGAGAACATGTTGTATTAGTCTTTCTGTGCCTAGCTTATTTCACTTAACATAATGTTCTCCAATTCCATCTGTATAGTTGCAAATGATAGTTTTCTTTTTTTAAAAAAAAAAAAAGCTGAATAGTATTCCCTTGTGTATGTATAGCACATTTTCTTTTCTTTCTTTTTGAGATGGAGTCATGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTAGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGACTACGCCCACCACCATGCCCAGCTAAGTTTTTTTATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCAGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCTCCGCCATGTACCACATTTTTTTTAATCCAGTCATCTGCTGATGGACATTTAGGTGGATTTCATAACTTCCCCTGCCAGTTATTGATTCAGGAATGGGCAAGTAACTGGCCCAATAAGGACAGATTTGCTGAAGGCTTTGGGAAAAGTTCTTTACTCTTAAAAGGGCAATGGGAAGCCAAATTTGTTTTTCTGTCATGAAATATGAATGAGGAAATGCAATGTATTTGTTCCTACTGCTGGCCATCTTATAGCTAACTTGAGAATAGTCAGCTTGAGGACACAAGCAACATACTGAAAACACAGTTATCTGTGATTTACAGAGAAAAATGGAGGCAGTGTCTGGATTCGATCAAGTCTAAAGTCTCCTCTAACTAGAGCCTTCTACTTAGGTAAGTCAATCACATTGTTTATTGTTTGAAGCAGTTAGTCTTATTTCCAAAAGCCTCCCCCTAGCTGATAAAGCTGGGGCAGCACCATGCTGTCCCAGAGTTGTTCTGTCACCCCTCTCAACTTTTTTAGGGCATGTGGGTGTGAGTCAATGAGATGGCCAAGCACAGTGCGTCATGAGATGGCACTTTTTTTGGTAAATGTAGCTTCCAACTCACTTCTGACCTTCCCTCTGGTTTTTGACACTGTAGAGAAAGAATGATAGACCACTGGGTACTGGCTGGTAGATAAAGAATCATCGGCATGGATGCTCAACACTAGGTTCTTTATCTGTGCAAGAATATGTGTTCAAAGCATTGAACTTCACAGCGGTTACTGCAAGTGTGAGTTTATCTATGGATGAAATATTTTTATAATGTTTGTTCCTATGTTTGTCTAAGCATATGGATATGAGGCTGTGCTATGTCCATGGCTGAAAAAGTGTGATACTGGGGGGCTGTTTAGCTCTGTCACTTCTCTATGTTGCTCTGAGGGTGGCTAACTCAGGGTGACCTGGCTGATTGGTACTCCCATCCCTCCTCTCTCTTCAGGTGGCTGGTTAGCCCCCTCACTCCCCACATTCCCCAGCTCCTCTTCAGTAGCAGTGGAGCAAAACCAAGGAGATTTCAATAGACGTCTATGTATAACTGGTAACAGAATTAGCATATTACTACTACATGGCCCCCAACAGTTTCTAGGGTGGCTTAAAGATCACTTTCCCAGTAGAGTAGACAGTGCAATAATATAGGTGCTCCTTAGTTTTTTGTGAATCCTGAAAAACCTGTCACAGATGAGGCCAGGTTCTCCAGCTTGTCCTTTCTTTGGGGTTCTATCTCTCCCTATATTTGAGGAGAGGCAGCTCCATGCAGGGTCACTGTGTATAAATACTTACATCCAAGAGGAACTCCACCAAGACATCAGCTGCAAACTCGCCATCAAACTCTATTGTGCGATCACCCTTAAGAATATACAGGCTTCCTTCTTCATCAAAACCTGTAAGAAACAAAGAGGCCCACAGAGAAGGTCATCCTGACGTAGGAAGAGTGATTGTATTGGCTGAGGTCTGGCTGAGGGTTTCTGGGTGACAGTGGGGTCAGGATTAGTGGAACTAGCATTAACCAAAGAAGCAGTTGCCTTGAAATAACACTTTTGAAGAGCTCCTGAAGTGAACATTTAATTGGAAATAGTCCAGAACAATTCCAGCTGGATTTTGACTTAAAAGAAAAGTCTATTCTCCACTCCACCACTGCTTTAGTTTTCCAAAAATACAGCTGATCCCATGTCATTCTCTTTATCAAAGAATTGTAATGGCCACTGCCCACCTGACTCCTTAACCTTGCTTTAAAGTCCCTCCAAAATCTGTTTCCAAATCTATCCCTTTCATTCTCCCTTAGGTAGACTTGTACTCCTTTGAGAACTGCTCTCTTGTCCCCTGTGGGACTCCCTTTGCTTCCTGTCCACATGTTTATATGAAAAGGTGAGTAAAGGAAAAGTCACTGAGCATTATTCTCTAGACTTAGTTTTTCTTGTTCTCCCAGCCTGGAATGACCTCCATCTTGCTTAGCTTCTTCAGGTCTCAGCTTAGGATTCATTTTTCTTAAGAAAGGTCACTTCAATCTCACTGAACTCATGCCATTATTGATCTTTGTTCAGCTCAATTTACAGGTCTTCACTATCAAAGTGAGTTCTCTGAGGGTAGGATCATTGTCTTCTTGGTATCCCAGAGCCTTGTACAGAGGCTGTGTACATCAGCAACCCATTAATGTATGTGGCCAGGATGGACAGCTTGCTTTCCTGTTCCAGCTGAATCCCACACATCTTCTTTATCCAGTTGGCTGGTAGATGCTGCAAGGACAGGCTCAGCGTCTTCTTATTTTGCTGCCCTTTAGCACCCTTGGTCTGATGTTGTGTACCTTAACAAATGCTTGTTGGAAAAATGCATTTTCCTCCTTAGGAATGTTAAATAAACAAAGCTGGCATTTAGTCCAATTGCCTGGCATCCTTAATTCCTTAGATTGTTGTAAAAGTCTGTTAGCTGGAGAAAGTTTTCTCCAAATGAACTCTTCTGCAGAACGTCCAGGGACAGGAAAGCTGGACTGCAGCCTGCTGTGTCCCAAGGCATGCATGAGGTATAAGCAGCCTCTGGCACATGGGCGGGAAATGGTAGAGGCACCATTTGTAAATCAAAAGGAGCAATGTGCCAGGTATTCTTTTTGTTTGTTTGTTTTTTGAGACAAGGTTTTCCTTTGTCACCCAGGCTGGAGTGCAGGGCCATGATCATGGCTCCTGCCTCAGCCTCCTGAATAGCTGAGACTACAGGCATGTGCTATGATGCTGGCTAATTTTTCATATATAAGTATATATGAAAAATTATATATTTTTTATATATGAAAAATTATACTATATATGTATATTACAAGCATGAGACACCGTGTCTGGCCCTGCCAGATTTTCTTGATATCAATGATGGCCAATCTCAAAAGGTGCCCTAGGGAACATTGGCCAGTGTCCTGCTGTTGGATTTTGTCTTGAGCAAAACCGCAGTAAGAAGACTACTGCAATTGTTGAGGCACAACTTGATAGAGGCCAAAATAAGGCAAATGGAAAAGAAATGAAGATGAAGGAGCAGGTTCACAAAATACCTCCACTCTCCTATAAACCCCCAGGGATCAAATAACCGGAAGGAACCTACCCCAACTCCTCCAAACTGAGCTTGTTTCAGTGTATCAAGCGCCATCATATTCTTTGCTAGTCTATTTTTATGTATACTTGCCCAGCTTGTCCACCCAAAATTTTTAGATCACTGGGACACTAGTATTTTTCTCTAACTAAATTTGCTGGAAATTCTCCCAAATGCAACTTCTCATTAAACCAATGGGAAGGCAGAAGAAGAATCAAGAGACTGCTGGGGGAGGAGACAGAACTCATTAAACTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAG
|
TTTAGTGATTTTGAAATATGTAATACATATTATTCACTATATTCACCATGCTGTACAATATATCTCAAAGAACAAAATCTTATTTCTCCTGTCTAATTGAGGCTTTGCACCCTTTGATCATTATCTCTCCATTCCCACCACCCCCACCCCATCCTGCTTTTGGCAACTACTCTCTGCTTCTCTGAGTTCTCGTGTTCTAGATTCCACATATAATAAGTGAGAACATGTTGTATTAGTCTTTCTGTGCCTAGCTTATTTCACTTAACATAATGTTCTCCAATTCCATCTGTATAGTTGCAAATGATAGTTTTCTTTTTTTAAAAAAAAAAAAAGCTGAATAGTATTCCCTTGTGTATGTATAGCACATTTTCTTTTCTTTCTTTTTGAGATGGAGTCATGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTAGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGACTACGCCCACCACCATGCCCAGCTAAGTTTTTTTATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCAGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCTCCGCCATGTACCACATTTTTTTTAATCCAGTCATCTGCTGATGGACATTTAGGTGGATTTCATAACTTCCCCTGCCAGTTATTGATTCAGGAATGGGCAAGTAACTGGCCCAATAAGGACAGATTTGCTGAAGGCTTTGGGAAAAGTTCTTTACTCTTAAAAGGGCAATGGGAAGCCAAATTTGTTTTTCTGTCATGAAATATGAATGAGGAAATGCAATGTATTTGTTCCTACTGCTGGCCATCTTATAGCTAACTTGAGAATAGTCAGCTTGAGGACACAAGCAACATACTGAAAACACAGTTATCTGTGATTTACAGAGAAAAATGGAGGCAGTGTCTGGATTCGATCAAGTCTAAAGTCTCCTCTAACTAGAGCCTTCTACTTAGGTAAGTCAATCACATTGTTTATTGTTTGAAGCAGTTAGTCTTATTTCCAAAAGCCTCCCCCTAGCTGATAAAGCTGGGGCAGCACCATGCTGTCCCAGAGTTGTTCTGTCACCCCTCTCAACTTTTTTAGGGCATGTGGGTGTGAGTCAATGAGATGGCCAAGCACAGTGCGTCATGAGATGGCACTTTTTTTGGTAAATGTAGCTTCCAACTCACTTCTGACCTTCCCTCTGGTTTTTGACACTGTAGAGAAAGAATGATAGACCACTGGGTACTGGCTGGTAGATAAAGAATCATCGGCATGGATGCTCAACACTAGGTTCTTTATCTGTGCAAGAATATGTGTTCAAAGCATTGAACTTCACAGCGGTTACTGCAAGTGTGAGTTTATCTATGGATGAAATATTTTTATAATGTTTGTTCCTATGTTTGTCTAAGCATATGGATATGAGGCTGTGCTATGTCCATGGCTGAAAAAGTGTGATACTGGGGGGCTGTTTAGCTCTGTCACTTCTCTATGTTGCTCTGAGGGTGGCTAACTCAGGGTGACCTGGCTGATTGGTACTCCCATCCCTCCTCTCTCTTCAGGTGGCTGGTTAGCCCCCTCACTCCCCACATTCCCCAGCTCCTCTTCAGTAGCAGTGGAGCAAAACCAAGGAGATTTCAATAGACGTCTATGTATAACTGGTAACAGAATTAGCATATTACTACTACATGGCCCCCAACAGTTTCTAGGGTGGCTTAAAGATCACTTTCCCAGTAGAGTAGACAGTGCAATAATATAGGTGCTCCTTAGTTTTTTGTGAATCCTGAAAAACCTGTCACAGATGAGGCCAGGTTCTCCAGCTTGTCCTTTCTTTGGGGTTCTATCTCTCCCTATATTTGAGGAGAGGCAGCTCCATGCAGGGTCACTGTGTATAAATACTTACATCCAAGAGGAACTCCACCAAGACATCAGCTGCAAACTCGCCATCAAACTCTATTGTGCGATCACCCTTCCTTCTTCATCAAAACCTGTAAGAAACAAAGAGGCCCACAGAGAAGGTCATCCTGACGTAGGAAGAGTGATTGTATTGGCTGAGGTCTGGCTGAGGGTTTCTGGGTGACAGTGGGGTCAGGATTAGTGGAACTAGCATTAACCAAAGAAGCAGTTGCCTTGAAATAACACTTTTGAAGAGCTCCTGAAGTGAACATTTAATTGGAAATAGTCCAGAACAATTCCAGCTGGATTTTGACTTAAAAGAAAAGTCTATTCTCCACTCCACCACTGCTTTAGTTTTCCAAAAATACAGCTGATCCCATGTCATTCTCTTTATCAAAGAATTGTAATGGCCACTGCCCACCTGACTCCTTAACCTTGCTTTAAAGTCCCTCCAAAATCTGTTTCCAAATCTATCCCTTTCATTCTCCCTTAGGTAGACTTGTACTCCTTTGAGAACTGCTCTCTTGTCCCCTGTGGGACTCCCTTTGCTTCCTGTCCACATGTTTATATGAAAAGGTGAGTAAAGGAAAAGTCACTGAGCATTATTCTCTAGACTTAGTTTTTCTTGTTCTCCCAGCCTGGAATGACCTCCATCTTGCTTAGCTTCTTCAGGTCTCAGCTTAGGATTCATTTTTCTTAAGAAAGGTCACTTCAATCTCACTGAACTCATGCCATTATTGATCTTTGTTCAGCTCAATTTACAGGTCTTCACTATCAAAGTGAGTTCTCTGAGGGTAGGATCATTGTCTTCTTGGTATCCCAGAGCCTTGTACAGAGGCTGTGTACATCAGCAACCCATTAATGTATGTGGCCAGGATGGACAGCTTGCTTTCCTGTTCCAGCTGAATCCCACACATCTTCTTTATCCAGTTGGCTGGTAGATGCTGCAAGGACAGGCTCAGCGTCTTCTTATTTTGCTGCCCTTTAGCACCCTTGGTCTGATGTTGTGTACCTTAACAAATGCTTGTTGGAAAAATGCATTTTCCTCCTTAGGAATGTTAAATAAACAAAGCTGGCATTTAGTCCAATTGCCTGGCATCCTTAATTCCTTAGATTGTTGTAAAAGTCTGTTAGCTGGAGAAAGTTTTCTCCAAATGAACTCTTCTGCAGAACGTCCAGGGACAGGAAAGCTGGACTGCAGCCTGCTGTGTCCCAAGGCATGCATGAGGTATAAGCAGCCTCTGGCACATGGGCGGGAAATGGTAGAGGCACCATTTGTAAATCAAAAGGAGCAATGTGCCAGGTATTCTTTTTGTTTGTTTGTTTTTTGAGACAAGGTTTTCCTTTGTCACCCAGGCTGGAGTGCAGGGCCATGATCATGGCTCCTGCCTCAGCCTCCTGAATAGCTGAGACTACAGGCATGTGCTATGATGCTGGCTAATTTTTCATATATAAGTATATATGAAAAATTATATATTTTTTATATATGAAAAATTATACTATATATGTATATTACAAGCATGAGACACCGTGTCTGGCCCTGCCAGATTTTCTTGATATCAATGATGGCCAATCTCAAAAGGTGCCCTAGGGAACATTGGCCAGTGTCCTGCTGTTGGATTTTGTCTTGAGCAAAACCGCAGTAAGAAGACTACTGCAATTGTTGAGGCACAACTTGATAGAGGCCAAAATAAGGCAAATGGAAAAGAAATGAAGATGAAGGAGCAGGTTCACAAAATACCTCCACTCTCCTATAAACCCCCAGGGATCAAATAACCGGAAGGAACCTACCCCAACTCCTCCAAACTGAGCTTGTTTCAGTGTATCAAGCGCCATCATATTCTTTGCTAGTCTATTTTTATGTATACTTGCCCAGCTTGTCCACCCAAAATTTTTAGATCACTGGGACACTAGTATTTTTCTCTAACTAAATTTGCTGGAAATTCTCCCAAATGCAACTTCTCATTAAACCAATGGGAAGGCAGAAGAAGAATCAAGAGACTGCTGGGGGAGGAGACAGAACTCATTAAACTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAGNNNNNNNNNNNNNNNN
|
pathogenic
| 13,624 |
Regarding the variant at chromosome 1 and position 115768328, affecting gene CASQ2 (calsequestrin 2): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Catecholaminergic_polymorphic_ventricular_tachycardia_1', 'Catecholaminergic_polymorphic_ventricular_tachycardia_2']
|
TGTTACGTACAACTGCCTTCATCTGTAGTAGCTGTGTGACCTTGGACAACTTAGCCTCTCTGCTTCAGTTTCCACATCTATAAAATGGAATTGGTAACTGTACCTACTTAATAGAATTATTGTAAGGATTAAACAAGCTAACACATACCAAGTGCTTAGAACAGTCCCTGCACTTAGTAAGCATTTAATCAACATTATTATTATTTAATCATTTCTTAAGCTGCATGATAGTTACTATTTTTCCATATTTATAGATAAGAAAATGAAGCTCTGAGAAATTACGTAATTTGCCCTGTGTCCTGTGCCTAGTAGAGACAAAGCCAGAACTTAAATCCAGATATCCTGACTTCAAGGTCTGTGTTCTTTTTCTCCTAATGATGCCTCACTCCAGCTTTAGCAGCCTGAGGGGCATCAAATTAACTCCTGTGGTGAACTTTTCCTTATCGGTCTCTGCTGGGCCGGCACCCACTGTGAAAAGGGCACTCTTGGATCAAAGGTGTCTGGAGGGATGGTAAGCCCAGGGGAAGTTTCTGTTCATGATTTTGCATAGTCTTTGGGGACAGATATACTTGGGGGAGCTAGAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAGGATGATAGAAAGATATTTCTTTTTTAAAAAAAATTAGAATCAGAAATGAATGTCCTTGCCTGTACTGGCCACCCAAAGGCATTCTTTTGGAGTTCTAGGCTAACTGGACAGCGATGAGCATATAGGGGAGAATCCTTATGCCTTCAATTAAGTTTTCATAACAATGTCTCTTGATAACTGAGTATGGCAGTTTGAGATGGAGATATAATGTAAGTGTTGGTTTCATGTGCTAAGCAGCAGCTAAGTTCTATGTCTCGTTCTTTTCCAGCCTGTGATTTGCTCATTTCTATAAAATAAAGTCTTAATAACTATCCCTGCTTTCTCTTTTCTTGCAACCCACAGAGAGAACTGAAATTCCACATTCAGCACCCAAGGTTGGAGATATACTTTTGATGTATTTGGGATAGTTTTGCTGGATTTTATTACAGTCAATTTTTCAATTTGAAAAAATTCAAATCCACATGGGTTTTATATGATAATCCTATTAAACTATTTCATCAACCTGAGTTCTCTGATTGTGCTGGTTAATAAACTGTAATTCTCAAATATCCCTTTCACAGGTTTGCGCCTGGGCTAGGCGTGGAGACTGATGAGGCATCTTGGTGCCCACTAGCATTCTTGGCACCCTCAGGCCCTCTTAAAGTGTAAGCCATCTTAAGCTGTCCAGGAGGAGCTGCAGGAATAGTTTCTGGGGCACTCGCAAAGGATTAGAAAATGGGCCCCAGTGCCAGGTTACAAACAGGCAGGCCATGTAATGCGGATAAAATAAGAACTGACTTCAGCTCTGCCCTAAAGTCACACCAAGAACTTTCTGAGAAAAAAAATCACATAAATGAATATGCTGCTCAGAAGATCTGCACACAACTACATTCTGTAATGCTGACTGACGCAAAACAAGAGAGAGGAAAGTCATTTAGTGATATTCTCCGTCTGACCCCCAGAGAGACGCAAGGTCAAGTAACTCTGGTCTCTCCAGGATCATGGGGAGATTTGAGGGAGCAAAGTGGGCACACTGAATGAAATCCACAAGTAGTCCCTGGATTTCATTTCAGCCAACAGTTTTAACAATAGTTTCTACATTCTATCTGGGAAACAATGGCTGGGACAAGGGCCCTTGAAAAGTCAAGGGGGCCATAAAGACTTTACATCAGACCCATCGTAGTGTAGCACGTTTGGTCCTCTTCATTTGAAGAGTTAGGACCCACCCCTCATTGTTCACACATCCCAGCTGTGTGACAAGGGCATCTGATTCACGTGAGGCCAAAATAAAGCAGAGTTCAGTATATATTCTCTGCATCCTCGTTCCCATATCCCAACCCCTGGCCAAAGGCATTCCCTCGGCACCTCACTGAGGCAGCGCAGACAGCATGCCCTTTGGTTACTTACCTCAAGCACGATTTCTTTCAGTTGGAACTGTTTTTGCGTGACCTTATCTGAAGACACCGGCTCATGGTAGTAGAGGCAAAGCAAGTCATATTTCTTTAAAACCTGCTTGAAGTTCTTCTCGGAAAGACTTACCACTCGGTCCTTCCCATCATATGTGGGGAAATTAAGCCCCTCTTCTGCCCTGCAAGAGGACAGAAAATAAATCCCCACAATAAACAAGTGAGTTCTCTTCATTTGGGAAAACTTTTGTTTCTCGTTCCCAAATATGCTGTGTGCAGAATAGAGGACAGAAGACTGTTAGAGGCCTTGTTGAGCCAAGGAGAGAGCAGACAGGCTGATTTTCTCTCTTCTTTGCCCTTCCTGGGGCTGAAAAGTGACTCTTCACCTCCTTGGGTCCAGCCAGCTCTGGAATCGTGGGCTCAGGACAAAGAGCAGAGGCACACACACACACACACGCACGCACGCACGCACGCATGAGAGTAGAAAAACAGCCAAGCTAGGGAGGCTGGGAGGCCAAGCCCCAGATACCTTACATAGCTCTGCTCAGCCTCTGTCTCATTAGGAACTCCATTTTTAGGATGCAGTTGTTTCAGGCTAAAAATAAATCATGCAATGAATAAAAAAGTTAGATACGACACTGTAGAGGGATTCGCTGATACAGTCTGTCCGACTGGTGAAGAGGGAAGAGGCAGAAGGAAAAAGACAAGAATGTACACGCATGAAATAAGGAGGCTAGAAAGGTCAAAGAAGAGAAAGAAACTCGAGAGGGAGAGAGATAAGGGACTATGGTGCCAATAAGCAAATGGAGAGTTCAAACATACGGAATGACACTCATACATTACTGAATTGTTAAATCACCCCAGGGTGGTAACTCAGCCTGTCCCCTCACGGTGGTTGTTCATCCTCTGTTCCTCACTGCAACATGGAACAAAATGGAGCCCCGAGGTAGACTTCTTCATGTTCTACTCCTGTCTTTTTCTGCCTTCCCTCCTCTCTTCTTAAAAATCCTCTGCCAGCCACTGGGCGAGGGGTGCAGGGACACCCTGCTGAACCCAGCTGACACCAGAAGAACCTGTCCTCATTAAACTAAAATGAAACAAGGTTCACAGTTCAAATCCCTACTCTGCCTTTTAACAGCTAATGAACTTTGGAGGGTCACTTGCCCTCTCTGATTCTCAGTTCCCCTCTATGTAAAGTGGGGCTGATAATAACCATAAAGTTTCAAACACATAGATGAAAAAGCATGGCACAAAATAGGTGCTCAAAAATAGTAGCTATTATACTTACTTCTCATTGGAGCTGGTGGAACATTGGTTATATAATGGATATTTGTCTGTTTCTAATATGAATGGTTTGTGAACCCTTTCTTGTCCATTTTCTCCTTGAATCCAGTAGGCAATTGGGGCAAAAGGGATCAGGGCTCATCCTACCGCTGAGCTAACAGCAACTTGTCTGAGTTTGCAGCATTTCTAACTGCCGGAGCAAGAATCCAACCCTGCCTCAAAGCTGCTGCTCCTGGCTGTTTTGCCTCTGACTCTGGGTGATTCCCTTGCAGACACCCCTTTTCTTAAGTACCTTCTTGACCATCTCTTCCAGTCCAACCCTAGTCCAGTCATGTCTCTCCACTCTTCAAAGGCATCTAGGGCATTCATGATTCTGACCAAGTTTTTGTTCTCCTTCAGTTATAAATCAGCTTTGGAAAGACAGAGTACTCTGTCATGCACAGCTTCTGCAGGGGCTAGAAGGCAAAGAGAAGATCCGTGGCCTCTCTGAGTAAAGCAAGGCTCCCCTGCAGTCAGACGGCCTTACACTGAGAGTCAGGCTGATAAGGGGTTGTCTTGATGCTACACTCTCATGTGCAGAAAGTTGGGGCCTTGAAGAACCCATCACTAAAACCCTTGACGGTATTCCGTTCTTTCTAATGGTGTAGTCTCTAAGTTTTCAAAAGATGGAGCCAAGAATATCCATTCTAAGGTGCACTTAGCTTTCCAAGTCAGTGGCAAGCATGCAAGATCTCTGCTTTCTTTAGGAAATTTAAGGGGAAAAAGATTTCCGAGTGAAACAATGT
|
TGTTACGTACAACTGCCTTCATCTGTAGTAGCTGTGTGACCTTGGACAACTTAGCCTCTCTGCTTCAGTTTCCACATCTATAAAATGGAATTGGTAACTGTACCTACTTAATAGAATTATTGTAAGGATTAAACAAGCTAACACATACCAAGTGCTTAGAACAGTCCCTGCACTTAGTAAGCATTTAATCAACATTATTATTATTTAATCATTTCTTAAGCTGCATGATAGTTACTATTTTTCCATATTTATAGATAAGAAAATGAAGCTCTGAGAAATTACGTAATTTGCCCTGTGTCCTGTGCCTAGTAGAGACAAAGCCAGAACTTAAATCCAGATATCCTGACTTCAAGGTCTGTGTTCTTTTTCTCCTAATGATGCCTCACTCCAGCTTTAGCAGCCTGAGGGGCATCAAATTAACTCCTGTGGTGAACTTTTCCTTATCGGTCTCTGCTGGGCCGGCACCCACTGTGAAAAGGGCACTCTTGGATCAAAGGTGTCTGGAGGGATGGTAAGCCCAGGGGAAGTTTCTGTTCATGATTTTGCATAGTCTTTGGGGACAGATATACTTGGGGGAGCTAGAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAGGATGATAGAAAGATATTTCTTTTTTAAAAAAAATTAGAATCAGAAATGAATGTCCTTGCCTGTACTGGCCACCCAAAGGCATTCTTTTGGAGTTCTAGGCTAACTGGACAGCGATGAGCATATAGGGGAGAATCCTTATGCCTTCAATTAAGTTTTCATAACAATGTCTCTTGATAACTGAGTATGGCAGTTTGAGATGGAGATATAATGTAAGTGTTGGTTTCATGTGCTAAGCAGCAGCTAAGTTCTATGTCTCGTTCTTTTCCAGCCTGTGATTTGCTCATTTCTATAAAATAAAGTCTTAATAACTATCCCTGCTTTCTCTTTTCTTGCAACCCACAGAGAGAACTGAAATTCCACATTCAGCACCCAAGGTTGGAGATATACTTTTGATGTATTTGGGATAGTTTTGCTGGATTTTATTACAGTCAATTTTTCAATTTGAAAAAATTCAAATCCACATGGGTTTTATATGATAATCCTATTAAACTATTTCATCAACCTGAGTTCTCTGATTGTGCTGGTTAATAAACTGTAATTCTCAAATATCCCTTTCACAGGTTTGCGCCTGGGCTAGGCGTGGAGACTGATGAGGCATCTTGGTGCCCACTAGCATTCTTGGCACCCTCAGGCCCTCTTAAAGTGTAAGCCATCTTAAGCTGTCCAGGAGGAGCTGCAGGAATAGTTTCTGGGGCACTCGCAAAGGATTAGAAAATGGGCCCCAGTGCCAGGTTACAAACAGGCAGGCCATGTAATGCGGATAAAATAAGAACTGACTTCAGCTCTGCCCTAAAGTCACACCAAGAACTTTCTGAGAAAAAAAATCACATAAATGAATATGCTGCTCAGAAGATCTGCACACAACTACATTCTGTAATGCTGACTGACGCAAAACAAGAGAGAGGAAAGTCATTTAGTGATATTCTCCGTCTGACCCCCAGAGAGACGCAAGGTCAAGTAACTCTGGTCTCTCCAGGATCATGGGGAGATTTGAGGGAGCAAAGTGGGCACACTGAATGAAATCCACAAGTAGTCCCTGGATTTCATTTCAGCCAACAGTTTTAACAATAGTTTCTACATTCTATCTGGGAAACAATGGCTGGGACAAGGGCCCTTGAAAAGTCAAGGGGGCCATAAAGACTTTACATCAGACCCATCGTAGTGTAGCACGTTTGGTCCTCTTCATTTGAAGAGTTAGGACCCACCCCTCATTGTTCACACATCCCAGCTGTGTGACAAGGGCATCTGATTCACGTGAGGCCAAAATAAAGCAGAGTTCAGTATATATTCTCTGCATCCTCGTTCCCATATCCCAACCCCTGGCCAAAGGCATTCCCTCGGCACCTCACTGAGGCAGCGCAGACAGCATGCCCTTTGGTTACTTACCTCAAGCACGATTTCTTTCAGTGGAACTGTTTTTGCGTGACCTTATCTGAAGACACCGGCTCATGGTAGTAGAGGCAAAGCAAGTCATATTTCTTTAAAACCTGCTTGAAGTTCTTCTCGGAAAGACTTACCACTCGGTCCTTCCCATCATATGTGGGGAAATTAAGCCCCTCTTCTGCCCTGCAAGAGGACAGAAAATAAATCCCCACAATAAACAAGTGAGTTCTCTTCATTTGGGAAAACTTTTGTTTCTCGTTCCCAAATATGCTGTGTGCAGAATAGAGGACAGAAGACTGTTAGAGGCCTTGTTGAGCCAAGGAGAGAGCAGACAGGCTGATTTTCTCTCTTCTTTGCCCTTCCTGGGGCTGAAAAGTGACTCTTCACCTCCTTGGGTCCAGCCAGCTCTGGAATCGTGGGCTCAGGACAAAGAGCAGAGGCACACACACACACACACGCACGCACGCACGCACGCATGAGAGTAGAAAAACAGCCAAGCTAGGGAGGCTGGGAGGCCAAGCCCCAGATACCTTACATAGCTCTGCTCAGCCTCTGTCTCATTAGGAACTCCATTTTTAGGATGCAGTTGTTTCAGGCTAAAAATAAATCATGCAATGAATAAAAAAGTTAGATACGACACTGTAGAGGGATTCGCTGATACAGTCTGTCCGACTGGTGAAGAGGGAAGAGGCAGAAGGAAAAAGACAAGAATGTACACGCATGAAATAAGGAGGCTAGAAAGGTCAAAGAAGAGAAAGAAACTCGAGAGGGAGAGAGATAAGGGACTATGGTGCCAATAAGCAAATGGAGAGTTCAAACATACGGAATGACACTCATACATTACTGAATTGTTAAATCACCCCAGGGTGGTAACTCAGCCTGTCCCCTCACGGTGGTTGTTCATCCTCTGTTCCTCACTGCAACATGGAACAAAATGGAGCCCCGAGGTAGACTTCTTCATGTTCTACTCCTGTCTTTTTCTGCCTTCCCTCCTCTCTTCTTAAAAATCCTCTGCCAGCCACTGGGCGAGGGGTGCAGGGACACCCTGCTGAACCCAGCTGACACCAGAAGAACCTGTCCTCATTAAACTAAAATGAAACAAGGTTCACAGTTCAAATCCCTACTCTGCCTTTTAACAGCTAATGAACTTTGGAGGGTCACTTGCCCTCTCTGATTCTCAGTTCCCCTCTATGTAAAGTGGGGCTGATAATAACCATAAAGTTTCAAACACATAGATGAAAAAGCATGGCACAAAATAGGTGCTCAAAAATAGTAGCTATTATACTTACTTCTCATTGGAGCTGGTGGAACATTGGTTATATAATGGATATTTGTCTGTTTCTAATATGAATGGTTTGTGAACCCTTTCTTGTCCATTTTCTCCTTGAATCCAGTAGGCAATTGGGGCAAAAGGGATCAGGGCTCATCCTACCGCTGAGCTAACAGCAACTTGTCTGAGTTTGCAGCATTTCTAACTGCCGGAGCAAGAATCCAACCCTGCCTCAAAGCTGCTGCTCCTGGCTGTTTTGCCTCTGACTCTGGGTGATTCCCTTGCAGACACCCCTTTTCTTAAGTACCTTCTTGACCATCTCTTCCAGTCCAACCCTAGTCCAGTCATGTCTCTCCACTCTTCAAAGGCATCTAGGGCATTCATGATTCTGACCAAGTTTTTGTTCTCCTTCAGTTATAAATCAGCTTTGGAAAGACAGAGTACTCTGTCATGCACAGCTTCTGCAGGGGCTAGAAGGCAAAGAGAAGATCCGTGGCCTCTCTGAGTAAAGCAAGGCTCCCCTGCAGTCAGACGGCCTTACACTGAGAGTCAGGCTGATAAGGGGTTGTCTTGATGCTACACTCTCATGTGCAGAAAGTTGGGGCCTTGAAGAACCCATCACTAAAACCCTTGACGGTATTCCGTTCTTTCTAATGGTGTAGTCTCTAAGTTTTCAAAAGATGGAGCCAAGAATATCCATTCTAAGGTGCACTTAGCTTTCCAAGTCAGTGGCAAGCATGCAAGATCTCTGCTTTCTTTAGGAAATTTAAGGGGAAAAAGATTTCCGAGTGAAACAATGTN
|
pathogenic
| 13,641 |
Is the chromosome 1, position 116397859 variant in ATP1A1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
GCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAAGTAAAGATAGGGTTTCGCCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAAGCGTGAGCCACCACACCCGGCCTACTCTCAGGATTAATACTGCCCTGAAAAGCTTTGTAGAAGTTATTTCCTCACCATTCCGACTGCTTCTTTTTAAAGTATATTCTAAGTATAATCACTGCATCAAAAAATAACAATTTTGAATTCTTGTCACATGTTGCTTTTCCTCCAAGTTGTGCCAATTTGAGAATGCTAGCCAGTAGCATGTGGTGTCTTCACAGTCCCACCAGCATCAGATTTTTATCCTTTTTTTTTTTTTTTTTTTTTGCTGGTTTTAGTAATTTTCAAGTATTTTTATGTAACTCTGTAGAAGGAAAAATAGACATTGTGTATGCTAGTGATTGTATACCAAGATAAAACCTGAGTATTGCCTTTGTGTTTCCTTTCTGTGGATATATATGTTTATATTTTTGGCTAATCGATGTTTATTAGTTTTATATTTGCATTCCTTTCCTTTTGATAGTCTAAGCCGAATCATCCTTAGTATTTACTCTTGCCTACTGGATATAAGACTTTAAGGTCATTTACTTGGCAGTTGCATTCAACACATTGTCTTGTTTATTACAGGTCATCATGGTCACAGGAGACCATCCAATCACAGCTAAAGCTATTGCCAAAGGTGTGGGCATCATCTCAGAAGGCAATGAGACCGTGGAAGACATTGCTGCCCGCCTCAACATCCCAGTCAGCCAGGTGAACCCCAGGTAAGGCAGGAAGCTCAAATCACAGTCTGCTGTGAACAAGCAAATAGTGATGGTTTAAAATCTTCAGCGTGGTTCTATAATGGTTTGCATCTAGGCTTGCTCTGAGTAGGAAATGTACCTGCACTGCCAGAAAGCAACCTTGTCATTCCTAAGAAGGGTTTTAAGTAAGAGCAAGTCATAATAATTAGCACTTAGATGGTATTTACTGTTCTAAGAGCTTGATATGGTGACCTATTATTTGCAGAGCAGGGAAGGTAAGGATTCAAGAGGCTTTTGAAGTACCTCAGAACTGGTGAAATCATGCAGTAAATTCAGCAGTCTAGCTTCTGATTTCATGCTGTTAACCACTGAGCTCTACTGCCTAGCACCTAGCATCTTGACACTTTCCAGGTCCACACTAACAAAATAAAATAAGGAAGGGACAATTACTTAGGCCATTCAGGCAAACACAGGAGACATTTGGCAATGAAGTAAAACAGATAATAGCAAATTGGTTTTGTTTTAAGGTTTAGGGCCCTTTCACCCTATGTTACGGTTAGAGGAGGGTTTGGTCTTGTATCAGCTCTGCCACTTTCTAAAACTTGGTTATATTTCTTTTTTTCTTTGATGGAGTCTCGCTCTGTCATCCCGGTTGGAGTGCAGTGTCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCCCAACCACCATGCCCGGCTAATTTTTGAATTTTTAGACCACCATTTTGGCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACACACCCAGCTAAAACTTGGTTATATTTCAGCATGTCTAATAAAGATAGGGAAAGGAAGAATACAGACAGGCCTGCCTTAGAGATCATCATGAGCCTCAAATGAGATAAAATATATGAAAATGCTCTGTAACCTGTAAAGTACTGAACACTTAATAGCTTTTATGTGCTGGGGAAAATTCCTTCTTTGTTTTGTTTACAAAGTGATCTGCATAAGAATATCCCCTCTTGAGGTGATGGACACATGCTGGTGATGTGATGCGTGACTTTTTTTTTTTTTTTGTCCTAATTCTAGGGATGCCAAGGCCTGCGTAGTACACGGCAGTGATCTAAAGGACATGACCTCCGAGCAGCTGGATGACATTTTGAAGTACCACACTGAGATAGTGTTTGCCAGGACCTCCCCTCAGCAGAAGCTCATCATTGTGGAAGGCTGCCAAAGACAGGTCAGCCAGCACAAGGATCAGGCTGCTTTGGGCACTATTGGCTTTAGGGATTGGAGTTCCAGTGGAAACAGAGCAACGGTGATGGATGGATGCATACCTCGCTGTATTAGACTCAGTATAAATAGGCCAGTAGGAAGCTCATAGGCATAGAGAGGGTGACTTGTTAATGGTTTAGCAGTGACAGAAGCACTTTAAAGTCCAGGTGTCCACTGTGTCCCAGAGCCTGACCGCTCCGTGGAGTCATCTGATATGGGGTCCTAGTATTTGCAATAGAGATGTGAGTGGTCAGACTACAGGGCGTGCATACAGGAATGGCATTTTCTGGAGTGCCACCCACCAGAGTCATTACTTTGAGTAGCTCTTGTTAATGCTGGGGGCTATGTTTGTTGTCACTTCTCAGTTCTGTTATTTGGTGTAGGGCCTGTGTGAATACTTGCCTGTGACGGTTCTCAGGCTTCATAAATAGTCTCAATAGGAAAGGAGCAGTGTCTGTAATGAGTGCTCAGTGGGGGCATGCATCGCACTATTTCCATCGCTAGGAAAAGTGATTGGTATTAACCCGTTTTCCCTTTTCTGGGGTAGGGTGCTATCGTGGCTGTGACTGGTGACGGTGTGAATGACTCTCCAGCTTTGAAGAAAGCAGACATTGGGGTTGCTATGGGGATTGCTGGCTCAGATGTGTCCAAGCAAGCTGCTGACATGATTCTTCTGGATGACAACTTTGCCTCAATTGTGACTGGAGTAGAGGAAGGTGAGAGCTATTTAAGGTGTACACCAAGATCTTATTCAGATACTGCCCATTAGCATCCATTTCTGTATACTTCTTGGATATGTTCAGTTTCCAGTGTGCTTGTCTCATAAGCTAACAGTAAAAAATCTTGGTTTTCATAGGTCGTCTGATCTTTGATAACTTGAAGAAATCCATTGCTTATACCTTAACCAGTAACATTCCCGAGATCACCCCGTTCCTGATATTTATTATTGCAAACATTCCACTACCACTGGGGACTGTCACCATCCTCTGCATTGACTTGGGCACTGACATGGTGAGTGTCACAACAGTCACAGATCGATAGTAGTGAGGTGTGAGCTGTGTCTTCATTCACTGGCACTATGCTCCCAGCATCCATGAGGCTGGCGTTGGGAAAAGAAATTCTCAGGACCAGTATCCAGTGTGTGTCCCAATCCCGGCTTCACAGAATCAGTATTACCACTCTTCAAGGCAGCAGTTAACATTTGTTTATCAGATGGGAATCTTTATTTTTGTATACTTCACCTAAAAGATTTTTAAATGGGAGGGCAAGAATTTTATAACAAAAGGTTCACAATATTAGCTTCCTTATTTTTAGTAACTAAATTCCTTCTCCCCACCCCTTCCCAGGTTCCTGCCATCTCCCTGGCTTATGAGCAGGCTGAGAGTGACATCATGAAGAGACAGCCCAGAAATCCCAAAACAGACAAACTTGTGAATGAGCGGCTGATCAGCATGGCCTATGGGCAGATTGGTAAGCTGCAGCCTGGAGTGGGAAGCTGGCACATCTAAGGCATCTGAGGTGATGGTGTCCACCTCAGGTTGAGGTTGATTTCAGAGACTGCAAATCCAGGCGACTTTCAGGTCTAGGATGAGCCCTAACGGAGTGAGCCTGTGGAGTTTCTCTGAACTCTCTTCCATGTGAGAATACATCTGTTGCTGTTTGCCCAGTTACCTTTTGTGGAAACTGGTTTTCTATACTGAGCACCTTGGAACTGGGCTCAACTCTGCCTGAGAAATGAGGATGTCCTTCCTCACTGAGCCTTGCGGAACAGGAGGCATGGTTCTAAGGAATTGTGTGTACTGACGCACAGGCTGCTTTCCCTGGAGATACACA
|
GCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCGCTACCACGCCCAGCTAATTTTTGTATTTTTAAGTAAAGATAGGGTTTCGCCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAAGCGTGAGCCACCACACCCGGCCTACTCTCAGGATTAATACTGCCCTGAAAAGCTTTGTAGAAGTTATTTCCTCACCATTCCGACTGCTTCTTTTTAAAGTATATTCTAAGTATAATCACTGCATCAAAAAATAACAATTTTGAATTCTTGTCACATGTTGCTTTTCCTCCAAGTTGTGCCAATTTGAGAATGCTAGCCAGTAGCATGTGGTGTCTTCACAGTCCCACCAGCATCAGATTTTTATCCTTTTTTTTTTTTTTTTTTTTTGCTGGTTTTAGTAATTTTCAAGTATTTTTATGTAACTCTGTAGAAGGAAAAATAGACATTGTGTATGCTAGTGATTGTATACCAAGATAAAACCTGAGTATTGCCTTTGTGTTTCCTTTCTGTGGATATATATGTTTATATTTTTGGCTAATCGATGTTTATTAGTTTTATATTTGCATTCCTTTCCTTTTGATAGTCTAAGCCGAATCATCCTTAGTATTTACTCTTGCCTACTGGATATAAGACTTTAAGGTCATTTACTTGGCAGTTGCATTCAACACATTGTCTTGTTTATTACAGGTCATCATGGTCACAGGAGACCATCCAATCACAGCTAAAGCTATTGCCAAAGGTGTGGGCATCATCTCAGAAGGCAATGAGACCGTGGAAGACATTGCTGCCCGCCTCAACATCCCAGTCAGCCAGGTGAACCCCAGGTAAGGCAGGAAGCTCAAATCACAGTCTGCTGTGAACAAGCAAATAGTGATGGTTTAAAATCTTCAGCGTGGTTCTATAATGGTTTGCATCTAGGCTTGCTCTGAGTAGGAAATGTACCTGCACTGCCAGAAAGCAACCTTGTCATTCCTAAGAAGGGTTTTAAGTAAGAGCAAGTCATAATAATTAGCACTTAGATGGTATTTACTGTTCTAAGAGCTTGATATGGTGACCTATTATTTGCAGAGCAGGGAAGGTAAGGATTCAAGAGGCTTTTGAAGTACCTCAGAACTGGTGAAATCATGCAGTAAATTCAGCAGTCTAGCTTCTGATTTCATGCTGTTAACCACTGAGCTCTACTGCCTAGCACCTAGCATCTTGACACTTTCCAGGTCCACACTAACAAAATAAAATAAGGAAGGGACAATTACTTAGGCCATTCAGGCAAACACAGGAGACATTTGGCAATGAAGTAAAACAGATAATAGCAAATTGGTTTTGTTTTAAGGTTTAGGGCCCTTTCACCCTATGTTACGGTTAGAGGAGGGTTTGGTCTTGTATCAGCTCTGCCACTTTCTAAAACTTGGTTATATTTCTTTTTTTCTTTGATGGAGTCTCGCTCTGTCATCCCGGTTGGAGTGCAGTGTCATGATCTTGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCCCAACCACCATGCCCGGCTAATTTTTGAATTTTTAGACCACCATTTTGGCAAGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACACACCCAGCTAAAACTTGGTTATATTTCAGCATGTCTAATAAAGATAGGGAAAGGAAGAATACAGACAGGCCTGCCTTAGAGATCATCATGAGCCTCAAATGAGATAAAATATATGAAAATGCTCTGTAACCTGTAAAGTACTGAACACTTAATAGCTTTTATGTGCTGGGGAAAATTCCTTCTTTGTTTTGTTTACAAAGTGATCTGCATAAGAATATCCCCTCTTGAGGTGATGGACACATGCTGGTGATGTGATGCGTGACTTTTTTTTTTTTTTGTCCTAATTCTAGGGATGCCAAGGCCTGCGTAGTACACGGCAGTGATCTAAAGGACATGACCTCCGAGCAGCTGGATGACATTTTGAAGTACCACACTGAGATAGTGTTTGCCAGGACCTCCCCTCAGCAGAAGCTCATCATTGTGGAAGGCTGCCAAAGACAGGTCAGCCAGCACAAGGATCAGGCTGCTTTGGGCACTATTGGCTTTAGGGATTGGAGTTCCAGTGGAAACAGAGCAACGGTGATGGATGGATGCATACCTCGCTGTATTAGACTCAGTATAAATAGGCCAGTAGGAAGCTCATAGGCATAGAGAGGGTGACTTGTTAATGGTTTAGCAGTGACAGAAGCACTTTAAAGTCCAGGTGTCCACTGTGTCCCAGAGCCTGACCGCTCCGTGGAGTCATCTGATATGGGGTCCTAGTATTTGCAATAGAGATGTGAGTGGTCAGACTACAGGGCGTGCATACAGGAATGGCATTTTCTGGAGTGCCACCCACCAGAGTCATTACTTTGAGTAGCTCTTGTTAATGCTGGGGGCTATGTTTGTTGTCACTTCTCAGTTCTGTTATTTGGTGTAGGGCCTGTGTGAATACTTGCCTGTGACGGTTCTCAGGCTTCATAAATAGTCTCAATAGGAAAGGAGCAGTGTCTGTAATGAGTGCTCAGTGGGGGCATGCATCGCACTATTTCCATCGCTAGGAAAAGTGATTGGTATTAACCCGTTTTCCCTTTTCTGGGGTAGGGTGCTATCGTGGCTGTGACTGGTGACGGTGTGAATGACTCTCCAGCTTTGAAGAAAGCAGACATTGGGGTTGCTATGGGGATTGCTGGCTCAGATGTGTCCAAGCAAGCTGCTGACATGATTCTTCTGGATGACAACTTTGCCTCAATTGTGACTGGAGTAGAGGAAGGTGAGAGCTATTTAAGGTGTACACCAAGATCTTATTCAGATACTGCCCATTAGCATCCATTTCTGTATACTTCTTGGATATGTTCAGTTTCCAGTGTGCTTGTCTCATAAGCTAACAGTAAAAAATCTTGGTTTTCATAGGTCGTCTGATCTTTGATAACTTGAAGAAATCCATTGCTTATACCTTAACCAGTAACATTCCCGAGATCACCCCGTTCCTGATATTTATTATTGCAAACATTCCACTACCACTGGGGACTGTCACCATCCTCTGCATTGACTTGGGCACTGACATGGTGAGTGTCACAACAGTCACAGATCGATAGTAGTGAGGTGTGAGCTGTGTCTTCATTCACTGGCACTATGCTCCCAGCATCCATGAGGCTGGCGTTGGGAAAAGAAATTCTCAGGACCAGTATCCAGTGTGTGTCCCAATCCCGGCTTCACAGAATCAGTATTACCACTCTTCAAGGCAGCAGTTAACATTTGTTTATCAGATGGGAATCTTTATTTTTGTATACTTCACCTAAAAGATTTTTAAATGGGAGGGCAAGAATTTTATAACAAAAGGTTCACAATATTAGCTTCCTTATTTTTAGTAACTAAATTCCTTCTCCCCACCCCTTCCCAGGTTCCTGCCATCTCCCTGGCTTATGAGCAGGCTGAGAGTGACATCATGAAGAGACAGCCCAGAAATCCCAAAACAGACAAACTTGTGAATGAGCGGCTGATCAGCATGGCCTATGGGCAGATTGGTAAGCTGCAGCCTGGAGTGGGAAGCTGGCACATCTAAGGCATCTGAGGTGATGGTGTCCACCTCAGGTTGAGGTTGATTTCAGAGACTGCAAATCCAGGCGACTTTCAGGTCTAGGATGAGCCCTAACGGAGTGAGCCTGTGGAGTTTCTCTGAACTCTCTTCCATGTGAGAATACATCTGTTGCTGTTTGCCCAGTTACCTTTTGTGGAAACTGGTTTTCTATACTGAGCACCTTGGAACTGGGCTCAACTCTGCCTGAGAAATGAGGATGTCCTTCCTCACTGAGCCTTGCGGAACAGGAGGCATGGTTCTAAGGAATTGTGTGTACTGACGCACAGGCTGCTTTCCCTGGAGATACACAN
|
benign
| 13,694 |
Gene HSD3B2 variant at chromosome position 119415482 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']
|
TGGGGAGTCAAGCTAAATCATTTGTAGAGTATGACTTCCAACAACTTCAGAAAGCATTCTTTTGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGGTGGAAATGAGCAAAGAAGTAAAGTCAATTATCTATGCTTTTATCATAAGAACCCTGAAAAAGAAGAGTAAAATAAACCCAAAGTTAATAAACATTTAAGCCAATAATAAAAATAATGAAAATCATGAAATAGAAAAATGAACAAACAATAGAGACAATCAGTGGTCAATTTTTCTGTACTCCATGAACAAAACTTCAGTTCAGAATGATTTTATATTTAAATATATATCCAGAATCACAAAGATCTTAGAAGAAAAAATTAGGAAAATATAGGAATAAAGTGGGAACTCTGTGGGAATAAAAATCAGAAAGTAATTGCCTACCAGGTAAACTCGGGGGAGGGCAGGCAATTGACTAAGAACAGGCAGATAAAACTTTCTGGAGTGAAGGAAATGGTGGTCTTCTTTTCGTTGGTACTTACATGGACATATATAACTGTCAAGGTTCATTGACAATGAACACTTAAGTGTACACTGAACGCTTAAGATCTGGGCCTTGTAATGCCCAGATTACATCTACTTAAAAAAACTACATCTCTATTTTTTTAAGTAGAGAAAAGTGTCTTGGGGAGTTTATGGCAGTGATGTTTGGGCAGACTGGGGCATAGGTTTCAGAAGCATTCATAGCATCTTCAGTTCAACAATTTGCTAAGAATGGTTTTGCAGCCAAAAATGTAAGATGAGTGCAAATATCTATGATTAGAGTCATTGGGCATACAACTACAAATCCCCACACTTGTATTACAGGCCATATGATTAATTCGTTATCACTAGATACCTTTCCTTCAATGAGGTTCTTCCATTAGGAACCCAGAGCTCTCCAGGGAAAAATTGCAATTGAGGTTTTGGATATATTGGGTGGAAAAGAAAGTCACCTCACATAAAACTTAGTGATTGGAGCTGTCACCATTGAAAATTTCTAAACTTTGCAAGACAGCAGTGACGTTTCAAATGACACTCTCAGAGAGTTGATAATGGGCTAAAATAGATCTCCCTCCAGGTGGATTTACTGTACAAGGACAACATTTACATTGCACTTGGAGACTTCTCCCAGTTTGGTTTAAGTTCACAGATTGCAGATCCCAGACAGCTGGTATCAACTGACCAGTGTTCTGTTAAGGCTAAAGCCAAGACTCTTTATCACACTGTGGCCTTAAGATTGGATTTCTCTTCCTGTTCCTGGGAAGAATTAGAGATATAACCTAAAGGTCACTATTATTCTGAGAAAAGGGATTCTGGAGGAGGAGGGAGCAATGAGTATGTGGCAGGAGTTCAAGGTAATAAGGGCTGAGACACAAGCCACAGAGCATAAAGCTCCAGTCCTTCCTCCAGGGATGAGGCAGTAAGGACTTGGACTCCTCTGTCCAGCTTTTAACAATCTAAGTTACGGTTAGAGCTTTCTCCTTTTCTTTCAACTACTCCTGGCAGTTGTGGGGTCATGGAATTTTTGTAAAAAATGGGGTGGAGGAAAATAAGGCATCTGCTGAGTGTATAACCATTTTACCTCTTGTTTTTAGCCCTCTTCTGGGTCACGCTAGAATCAGATCTGCTCTCCAGCATCTTCTGTTTCCTGGCAAGTGTTTCCTGCTACTTTGGATTGGCCACGATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGCCTGTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGACAAGGCCTTCAGACCAGAATTGAGAGAGGAATTTTCTAGTAAGTAAACTTGAGTCATGGGTCTGTGGCTCCATCTTAAACTCTGCATGGGTGTGGGGAGGTTGACCTTGTCTAGCAAGTTAAGGAAAGTTGTAGCCAAATGAAAGCCAGTCACACATCTAAAGTCATCAGAAAGGAAATAGAATAAAATGGTATAGTGTGAAAGATACTGGATGGGGTGTCCAGAGACTGGATTCTGGCCCTGACGCAGAACTTGAGAGGCAGCCATGTCAGCCTCAAGGCCCCTTTTCTTCTCTTCTAGAGAGTCACACATGAGTTCTCCTTCTTGTCTACAACTCTTATGTTCTGAAGCTTTTTGTCTTGGCGATTGCTGTGCGACATTCACAAAGGACATCATTTACCTGGAGACCTCACCAGTGGGTCCTGCCTGTCTAGACTGCCCCAGGCTTCATTTCATTTTATAGCTTCCTTAGTATCTTTAGTGAGGGCAAAATAAAAGGAAGTGAAGGTACGGATGTGTGTGTAATTGTGTGTGTGTGTCAGACAGAGAAAGAAAATGAGGGGGAAAGAAGGTCAGAGACAGAGAATGAGAAAGACAGAGAATGAATGAGAAAGATAGTGTGAGGGAGAGCATCAGCAAGAGAGAGAGAGTGAAAGTGAGAGAGATCATCAGTGAGAGAGAGAGAAAGAGAGAAAGAGAGCATGCACAAGTGCACGGCACAGAGCAGAGACAGAGTAAAAGGCAGTATGAGGCCAACATGCCTCATTTATATTTCTCATATATAGCCTTTTTAAAAAAAAACCATTTGTATCTGTTGTTCAATACTCCAAATAAATTGACTGCAGAATTTGCTGTAGTAACTCTTTGTGCAAATAACCCTGTGAGGAAGGTAGAAAAGGGGTCACCTCCAACTGGACAATGAACCCATCAAGTTCCAGAAACATAAAGTTACTTGCCAAGAACAGCTGATTAATGTGTAGCAGAGCTCAGACCAGAGCTTCATTCCAGAAGCTTCATCACTTGACCCCCGGGCTAATCCTTGGTGGGTCTTCAGTCTCTCCCTTTGCCTCTCTGTGTGCCCCAAACCAATTCCATGTTTTCCTCCCAACCCAGGGGACTGGGGGAACTATGTATCTTCTTCATGCAGGTTCTGGCTGCCTAGAAGGTCCTGCCCTGTTCACACAGAAGCTCCCCTTGACACTCTCCTCTTCTTTCACTCTTCTCTGACCTCTTTAAATGTCCAATTTCCTCCACTCTCTGTTCTAATAGTGAACAGATATTAACACATGACTGATATTAAATGTTTGTAATCCTTATGTCTCAGCAATATTTACAATCTAACATCTGATACCAGGAAAAAGCAATGCTCAGTCTAGAGGAAGAGTTCTGCTATGGTGAAAATGCAGGGAGCATAATGGATGGGCAGGGCCTGTATGAAGATAAAAACAGAGAATCCTTTCAGTGTTCTTTCTGTGCCAGGCACTGTGCTAAAGGTTTTGCATGTGCTGACTCATTTACTTCCCATAACAACCCTATGAGATGGGTAATACTATTATCCTCCTTTTTTATAGATGAGGAGACAGACACAGAGAGGTTAATCAACTTGTCGAAGGTCCCAAGTTAGATTACGGCAAAGCTGGATTTGAATCCAGGCAGTCTAGTGCAGCTTCTGTGCTCTTAAGTAGTAGTTTGTCTAGCAGCTTCTCTGAGCCTCCCTCCAGCCCAACACACAACACAAAAGCAACTGAATTTAGTCTACATGAAACACTTGCCAAGTCCACAGTGCCTTGGAGAAGGAGGGAGCTAAGACTCCATCAAAAATTGCGCTTTTCTGGTCTCTCTAGATCCATGGAAACTCACCGGGGAAGAGTCATTTTCTATCGGCTTTGGACTTCTGCTATGAAATGGCAATTCCTTTGAGCCAGTCTGTCTAAAGTCGGCAGCAAAGGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATTC
|
TGGGGAGTCAAGCTAAATCATTTGTAGAGTATGACTTCCAACAACTTCAGAAAGCATTCTTTTGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGGTGGAAATGAGCAAAGAAGTAAAGTCAATTATCTATGCTTTTATCATAAGAACCCTGAAAAAGAAGAGTAAAATAAACCCAAAGTTAATAAACATTTAAGCCAATAATAAAAATAATGAAAATCATGAAATAGAAAAATGAACAAACAATAGAGACAATCAGTGGTCAATTTTTCTGTACTCCATGAACAAAACTTCAGTTCAGAATGATTTTATATTTAAATATATATCCAGAATCACAAAGATCTTAGAAGAAAAAATTAGGAAAATATAGGAATAAAGTGGGAACTCTGTGGGAATAAAAATCAGAAAGTAATTGCCTACCAGGTAAACTCGGGGGAGGGCAGGCAATTGACTAAGAACAGGCAGATAAAACTTTCTGGAGTGAAGGAAATGGTGGTCTTCTTTTCGTTGGTACTTACATGGACATATATAACTGTCAAGGTTCATTGACAATGAACACTTAAGTGTACACTGAACGCTTAAGATCTGGGCCTTGTAATGCCCAGATTACATCTACTTAAAAAAACTACATCTCTATTTTTTTAAGTAGAGAAAAGTGTCTTGGGGAGTTTATGGCAGTGATGTTTGGGCAGACTGGGGCATAGGTTTCAGAAGCATTCATAGCATCTTCAGTTCAACAATTTGCTAAGAATGGTTTTGCAGCCAAAAATGTAAGATGAGTGCAAATATCTATGATTAGAGTCATTGGGCATACAACTACAAATCCCCACACTTGTATTACAGGCCATATGATTAATTCGTTATCACTAGATACCTTTCCTTCAATGAGGTTCTTCCATTAGGAACCCAGAGCTCTCCAGGGAAAAATTGCAATTGAGGTTTTGGATATATTGGGTGGAAAAGAAAGTCACCTCACATAAAACTTAGTGATTGGAGCTGTCACCATTGAAAATTTCTAAACTTTGCAAGACAGCAGTGACGTTTCAAATGACACTCTCAGAGAGTTGATAATGGGCTAAAATAGATCTCCCTCCAGGTGGATTTACTGTACAAGGACAACATTTACATTGCACTTGGAGACTTCTCCCAGTTTGGTTTAAGTTCACAGATTGCAGATCCCAGACAGCTGGTATCAACTGACCAGTGTTCTGTTAAGGCTAAAGCCAAGACTCTTTATCACACTGTGGCCTTAAGATTGGATTTCTCTTCCTGTTCCTGGGAAGAATTAGAGATATAACCTAAAGGTCACTATTATTCTGAGAAAAGGGATTCTGGAGGAGGAGGGAGCAATGAGTATGTGGCAGGAGTTCAAGGTAATAAGGGCTGAGACACAAGCCACAGAGCATAAAGCTCCAGTCCTTCCTCCAGGGATGAGGCAGTAAGGACTTGGACTCCTCTGTCCAGCTTTTAACAATCTAAGTTACGGTTAGAGCTTTCTCCTTTTCTTTCAACTACTCCTGGCAGTTGTGGGGTCATGGAATTTTTGTAAAAAATGGGGTGGAGGAAAATAAGGCATCTGCTGAGTGTATAACCATTTTACCTCTTGTTTTTAGCCCTCTTCTGGGTCACGCTAGAATCAGATCTGCTCTCCAGCATCTTCTGTTTCCTGGCAAGTGTTTCCTGCTACTTTGGATTGGCCACGATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGCCTGTTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGACAAGGCCTTCAGACCAGAATTGAGAGAGGAATTTTCTAGTAAGTAAACTTGAGTCATGGGTCTGTGGCTCCATCTTAAACTCTGCATGGGTGTGGGGAGGTTGACCTTGTCTAGCAAGTTAAGGAAAGTTGTAGCCAAATGAAAGCCAGTCACACATCTAAAGTCATCAGAAAGGAAATAGAATAAAATGGTATAGTGTGAAAGATACTGGATGGGGTGTCCAGAGACTGGATTCTGGCCCTGACGCAGAACTTGAGAGGCAGCCATGTCAGCCTCAAGGCCCCTTTTCTTCTCTTCTAGAGAGTCACACATGAGTTCTCCTTCTTGTCTACAACTCTTATGTTCTGAAGCTTTTTGTCTTGGCGATTGCTGTGCGACATTCACAAAGGACATCATTTACCTGGAGACCTCACCAGTGGGTCCTGCCTGTCTAGACTGCCCCAGGCTTCATTTCATTTTATAGCTTCCTTAGTATCTTTAGTGAGGGCAAAATAAAAGGAAGTGAAGGTACGGATGTGTGTGTAATTGTGTGTGTGTGTCAGACAGAGAAAGAAAATGAGGGGGAAAGAAGGTCAGAGACAGAGAATGAGAAAGACAGAGAATGAATGAGAAAGATAGTGTGAGGGAGAGCATCAGCAAGAGAGAGAGAGTGAAAGTGAGAGAGATCATCAGTGAGAGAGAGAGAAAGAGAGAAAGAGAGCATGCACAAGTGCACGGCACAGAGCAGAGACAGAGTAAAAGGCAGTATGAGGCCAACATGCCTCATTTATATTTCTCATATATAGCCTTTTTAAAAAAAAACCATTTGTATCTGTTGTTCAATACTCCAAATAAATTGACTGCAGAATTTGCTGTAGTAACTCTTTGTGCAAATAACCCTGTGAGGAAGGTAGAAAAGGGGTCACCTCCAACTGGACAATGAACCCATCAAGTTCCAGAAACATAAAGTTACTTGCCAAGAACAGCTGATTAATGTGTAGCAGAGCTCAGACCAGAGCTTCATTCCAGAAGCTTCATCACTTGACCCCCGGGCTAATCCTTGGTGGGTCTTCAGTCTCTCCCTTTGCCTCTCTGTGTGCCCCAAACCAATTCCATGTTTTCCTCCCAACCCAGGGGACTGGGGGAACTATGTATCTTCTTCATGCAGGTTCTGGCTGCCTAGAAGGTCCTGCCCTGTTCACACAGAAGCTCCCCTTGACACTCTCCTCTTCTTTCACTCTTCTCTGACCTCTTTAAATGTCCAATTTCCTCCACTCTCTGTTCTAATAGTGAACAGATATTAACACATGACTGATATTAAATGTTTGTAATCCTTATGTCTCAGCAATATTTACAATCTAACATCTGATACCAGGAAAAAGCAATGCTCAGTCTAGAGGAAGAGTTCTGCTATGGTGAAAATGCAGGGAGCATAATGGATGGGCAGGGCCTGTATGAAGATAAAAACAGAGAATCCTTTCAGTGTTCTTTCTGTGCCAGGCACTGTGCTAAAGGTTTTGCATGTGCTGACTCATTTACTTCCCATAACAACCCTATGAGATGGGTAATACTATTATCCTCCTTTTTTATAGATGAGGAGACAGACACAGAGAGGTTAATCAACTTGTCGAAGGTCCCAAGTTAGATTACGGCAAAGCTGGATTTGAATCCAGGCAGTCTAGTGCAGCTTCTGTGCTCTTAAGTAGTAGTTTGTCTAGCAGCTTCTCTGAGCCTCCCTCCAGCCCAACACACAACACAAAAGCAACTGAATTTAGTCTACATGAAACACTTGCCAAGTCCACAGTGCCTTGGAGAAGGAGGGAGCTAAGACTCCATCAAAAATTGCGCTTTTCTGGTCTCTCTAGATCCATGGAAACTCACCGGGGAAGAGTCATTTTCTATCGGCTTTGGACTTCTGCTATGAAATGGCAATTCCTTTGAGCCAGTCTGTCTAAAGTCGGCAGCAAAGGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATT
|
pathogenic
| 13,795 |
The genetic variant at chromosome 1, position 119415544, affecting gene HSD3B2: benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']
|
TGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGGTGGAAATGAGCAAAGAAGTAAAGTCAATTATCTATGCTTTTATCATAAGAACCCTGAAAAAGAAGAGTAAAATAAACCCAAAGTTAATAAACATTTAAGCCAATAATAAAAATAATGAAAATCATGAAATAGAAAAATGAACAAACAATAGAGACAATCAGTGGTCAATTTTTCTGTACTCCATGAACAAAACTTCAGTTCAGAATGATTTTATATTTAAATATATATCCAGAATCACAAAGATCTTAGAAGAAAAAATTAGGAAAATATAGGAATAAAGTGGGAACTCTGTGGGAATAAAAATCAGAAAGTAATTGCCTACCAGGTAAACTCGGGGGAGGGCAGGCAATTGACTAAGAACAGGCAGATAAAACTTTCTGGAGTGAAGGAAATGGTGGTCTTCTTTTCGTTGGTACTTACATGGACATATATAACTGTCAAGGTTCATTGACAATGAACACTTAAGTGTACACTGAACGCTTAAGATCTGGGCCTTGTAATGCCCAGATTACATCTACTTAAAAAAACTACATCTCTATTTTTTTAAGTAGAGAAAAGTGTCTTGGGGAGTTTATGGCAGTGATGTTTGGGCAGACTGGGGCATAGGTTTCAGAAGCATTCATAGCATCTTCAGTTCAACAATTTGCTAAGAATGGTTTTGCAGCCAAAAATGTAAGATGAGTGCAAATATCTATGATTAGAGTCATTGGGCATACAACTACAAATCCCCACACTTGTATTACAGGCCATATGATTAATTCGTTATCACTAGATACCTTTCCTTCAATGAGGTTCTTCCATTAGGAACCCAGAGCTCTCCAGGGAAAAATTGCAATTGAGGTTTTGGATATATTGGGTGGAAAAGAAAGTCACCTCACATAAAACTTAGTGATTGGAGCTGTCACCATTGAAAATTTCTAAACTTTGCAAGACAGCAGTGACGTTTCAAATGACACTCTCAGAGAGTTGATAATGGGCTAAAATAGATCTCCCTCCAGGTGGATTTACTGTACAAGGACAACATTTACATTGCACTTGGAGACTTCTCCCAGTTTGGTTTAAGTTCACAGATTGCAGATCCCAGACAGCTGGTATCAACTGACCAGTGTTCTGTTAAGGCTAAAGCCAAGACTCTTTATCACACTGTGGCCTTAAGATTGGATTTCTCTTCCTGTTCCTGGGAAGAATTAGAGATATAACCTAAAGGTCACTATTATTCTGAGAAAAGGGATTCTGGAGGAGGAGGGAGCAATGAGTATGTGGCAGGAGTTCAAGGTAATAAGGGCTGAGACACAAGCCACAGAGCATAAAGCTCCAGTCCTTCCTCCAGGGATGAGGCAGTAAGGACTTGGACTCCTCTGTCCAGCTTTTAACAATCTAAGTTACGGTTAGAGCTTTCTCCTTTTCTTTCAACTACTCCTGGCAGTTGTGGGGTCATGGAATTTTTGTAAAAAATGGGGTGGAGGAAAATAAGGCATCTGCTGAGTGTATAACCATTTTACCTCTTGTTTTTAGCCCTCTTCTGGGTCACGCTAGAATCAGATCTGCTCTCCAGCATCTTCTGTTTCCTGGCAAGTGTTTCCTGCTACTTTGGATTGGCCACGATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGCCTGTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGACAAGGCCTTCAGACCAGAATTGAGAGAGGAATTTTCTAGTAAGTAAACTTGAGTCATGGGTCTGTGGCTCCATCTTAAACTCTGCATGGGTGTGGGGAGGTTGACCTTGTCTAGCAAGTTAAGGAAAGTTGTAGCCAAATGAAAGCCAGTCACACATCTAAAGTCATCAGAAAGGAAATAGAATAAAATGGTATAGTGTGAAAGATACTGGATGGGGTGTCCAGAGACTGGATTCTGGCCCTGACGCAGAACTTGAGAGGCAGCCATGTCAGCCTCAAGGCCCCTTTTCTTCTCTTCTAGAGAGTCACACATGAGTTCTCCTTCTTGTCTACAACTCTTATGTTCTGAAGCTTTTTGTCTTGGCGATTGCTGTGCGACATTCACAAAGGACATCATTTACCTGGAGACCTCACCAGTGGGTCCTGCCTGTCTAGACTGCCCCAGGCTTCATTTCATTTTATAGCTTCCTTAGTATCTTTAGTGAGGGCAAAATAAAAGGAAGTGAAGGTACGGATGTGTGTGTAATTGTGTGTGTGTGTCAGACAGAGAAAGAAAATGAGGGGGAAAGAAGGTCAGAGACAGAGAATGAGAAAGACAGAGAATGAATGAGAAAGATAGTGTGAGGGAGAGCATCAGCAAGAGAGAGAGAGTGAAAGTGAGAGAGATCATCAGTGAGAGAGAGAGAAAGAGAGAAAGAGAGCATGCACAAGTGCACGGCACAGAGCAGAGACAGAGTAAAAGGCAGTATGAGGCCAACATGCCTCATTTATATTTCTCATATATAGCCTTTTTAAAAAAAAACCATTTGTATCTGTTGTTCAATACTCCAAATAAATTGACTGCAGAATTTGCTGTAGTAACTCTTTGTGCAAATAACCCTGTGAGGAAGGTAGAAAAGGGGTCACCTCCAACTGGACAATGAACCCATCAAGTTCCAGAAACATAAAGTTACTTGCCAAGAACAGCTGATTAATGTGTAGCAGAGCTCAGACCAGAGCTTCATTCCAGAAGCTTCATCACTTGACCCCCGGGCTAATCCTTGGTGGGTCTTCAGTCTCTCCCTTTGCCTCTCTGTGTGCCCCAAACCAATTCCATGTTTTCCTCCCAACCCAGGGGACTGGGGGAACTATGTATCTTCTTCATGCAGGTTCTGGCTGCCTAGAAGGTCCTGCCCTGTTCACACAGAAGCTCCCCTTGACACTCTCCTCTTCTTTCACTCTTCTCTGACCTCTTTAAATGTCCAATTTCCTCCACTCTCTGTTCTAATAGTGAACAGATATTAACACATGACTGATATTAAATGTTTGTAATCCTTATGTCTCAGCAATATTTACAATCTAACATCTGATACCAGGAAAAAGCAATGCTCAGTCTAGAGGAAGAGTTCTGCTATGGTGAAAATGCAGGGAGCATAATGGATGGGCAGGGCCTGTATGAAGATAAAAACAGAGAATCCTTTCAGTGTTCTTTCTGTGCCAGGCACTGTGCTAAAGGTTTTGCATGTGCTGACTCATTTACTTCCCATAACAACCCTATGAGATGGGTAATACTATTATCCTCCTTTTTTATAGATGAGGAGACAGACACAGAGAGGTTAATCAACTTGTCGAAGGTCCCAAGTTAGATTACGGCAAAGCTGGATTTGAATCCAGGCAGTCTAGTGCAGCTTCTGTGCTCTTAAGTAGTAGTTTGTCTAGCAGCTTCTCTGAGCCTCCCTCCAGCCCAACACACAACACAAAAGCAACTGAATTTAGTCTACATGAAACACTTGCCAAGTCCACAGTGCCTTGGAGAAGGAGGGAGCTAAGACTCCATCAAAAATTGCGCTTTTCTGGTCTCTCTAGATCCATGGAAACTCACCGGGGAAGAGTCATTTTCTATCGGCTTTGGACTTCTGCTATGAAATGGCAATTCCTTTGAGCCAGTCTGTCTAAAGTCGGCAGCAAAGGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATTCCACTCTCGGGCTGACACCCACCTCCTCCCCAGCAGCCTCTTCCCTGCCTCCACCATTCCAGG
|
TGAAGTGCTTATGGCATTTCCACCAACATAGACCATAGGCTGGACCATAAAACAAATCTCAATATATATCAAAGAATCAAAATCATACAGAGTATATGCTCTGGCCACAATAATATTTAATTAGAAATACATAACAATAAGAAAATCCCCAGTTTTAGAAAACATGCAACATGCTTCTCAATAACACTTGGGTCAAAGAAGACATCACAAGAAAAAATTCAAAACGTCAGTAACTGAATAATGATAACCCAATGCATCAAAATGTTGGATACAGCTAACATAGTGTTTAGAGAGAAATTTACAACTTTAAATGCCTATGGTGGAAATGAGCAAAGAAGTAAAGTCAATTATCTATGCTTTTATCATAAGAACCCTGAAAAAGAAGAGTAAAATAAACCCAAAGTTAATAAACATTTAAGCCAATAATAAAAATAATGAAAATCATGAAATAGAAAAATGAACAAACAATAGAGACAATCAGTGGTCAATTTTTCTGTACTCCATGAACAAAACTTCAGTTCAGAATGATTTTATATTTAAATATATATCCAGAATCACAAAGATCTTAGAAGAAAAAATTAGGAAAATATAGGAATAAAGTGGGAACTCTGTGGGAATAAAAATCAGAAAGTAATTGCCTACCAGGTAAACTCGGGGGAGGGCAGGCAATTGACTAAGAACAGGCAGATAAAACTTTCTGGAGTGAAGGAAATGGTGGTCTTCTTTTCGTTGGTACTTACATGGACATATATAACTGTCAAGGTTCATTGACAATGAACACTTAAGTGTACACTGAACGCTTAAGATCTGGGCCTTGTAATGCCCAGATTACATCTACTTAAAAAAACTACATCTCTATTTTTTTAAGTAGAGAAAAGTGTCTTGGGGAGTTTATGGCAGTGATGTTTGGGCAGACTGGGGCATAGGTTTCAGAAGCATTCATAGCATCTTCAGTTCAACAATTTGCTAAGAATGGTTTTGCAGCCAAAAATGTAAGATGAGTGCAAATATCTATGATTAGAGTCATTGGGCATACAACTACAAATCCCCACACTTGTATTACAGGCCATATGATTAATTCGTTATCACTAGATACCTTTCCTTCAATGAGGTTCTTCCATTAGGAACCCAGAGCTCTCCAGGGAAAAATTGCAATTGAGGTTTTGGATATATTGGGTGGAAAAGAAAGTCACCTCACATAAAACTTAGTGATTGGAGCTGTCACCATTGAAAATTTCTAAACTTTGCAAGACAGCAGTGACGTTTCAAATGACACTCTCAGAGAGTTGATAATGGGCTAAAATAGATCTCCCTCCAGGTGGATTTACTGTACAAGGACAACATTTACATTGCACTTGGAGACTTCTCCCAGTTTGGTTTAAGTTCACAGATTGCAGATCCCAGACAGCTGGTATCAACTGACCAGTGTTCTGTTAAGGCTAAAGCCAAGACTCTTTATCACACTGTGGCCTTAAGATTGGATTTCTCTTCCTGTTCCTGGGAAGAATTAGAGATATAACCTAAAGGTCACTATTATTCTGAGAAAAGGGATTCTGGAGGAGGAGGGAGCAATGAGTATGTGGCAGGAGTTCAAGGTAATAAGGGCTGAGACACAAGCCACAGAGCATAAAGCTCCAGTCCTTCCTCCAGGGATGAGGCAGTAAGGACTTGGACTCCTCTGTCCAGCTTTTAACAATCTAAGTTACGGTTAGAGCTTTCTCCTTTTCTTTCAACTACTCCTGGCAGTTGTGGGGTCATGGAATTTTTGTAAAAAATGGGGTGGAGGAAAATAAGGCATCTGCTGAGTGTATAACCATTTTACCTCTTGTTTTTAGCCCTCTTCTGGGTCACGCTAGAATCAGATCTGCTCTCCAGCATCTTCTGTTTCCTGGCAAGTGTTTCCTGCTACTTTGGATTGGCCACGATGGGCTGGAGCTGCCTTGTGACAGGAGCAGGAGGGCTTCTGGGTCAGAGGATCGTCCGCCTGTTGGTGGAAGAGAAGGAACTGAAGGAGATCAGGGCCTTGGACAAGGCCTTCAGACCAGAATTGAGAGGAATTTTCTAGTAAGTAAACTTGAGTCATGGGTCTGTGGCTCCATCTTAAACTCTGCATGGGTGTGGGGAGGTTGACCTTGTCTAGCAAGTTAAGGAAAGTTGTAGCCAAATGAAAGCCAGTCACACATCTAAAGTCATCAGAAAGGAAATAGAATAAAATGGTATAGTGTGAAAGATACTGGATGGGGTGTCCAGAGACTGGATTCTGGCCCTGACGCAGAACTTGAGAGGCAGCCATGTCAGCCTCAAGGCCCCTTTTCTTCTCTTCTAGAGAGTCACACATGAGTTCTCCTTCTTGTCTACAACTCTTATGTTCTGAAGCTTTTTGTCTTGGCGATTGCTGTGCGACATTCACAAAGGACATCATTTACCTGGAGACCTCACCAGTGGGTCCTGCCTGTCTAGACTGCCCCAGGCTTCATTTCATTTTATAGCTTCCTTAGTATCTTTAGTGAGGGCAAAATAAAAGGAAGTGAAGGTACGGATGTGTGTGTAATTGTGTGTGTGTGTCAGACAGAGAAAGAAAATGAGGGGGAAAGAAGGTCAGAGACAGAGAATGAGAAAGACAGAGAATGAATGAGAAAGATAGTGTGAGGGAGAGCATCAGCAAGAGAGAGAGAGTGAAAGTGAGAGAGATCATCAGTGAGAGAGAGAGAAAGAGAGAAAGAGAGCATGCACAAGTGCACGGCACAGAGCAGAGACAGAGTAAAAGGCAGTATGAGGCCAACATGCCTCATTTATATTTCTCATATATAGCCTTTTTAAAAAAAAACCATTTGTATCTGTTGTTCAATACTCCAAATAAATTGACTGCAGAATTTGCTGTAGTAACTCTTTGTGCAAATAACCCTGTGAGGAAGGTAGAAAAGGGGTCACCTCCAACTGGACAATGAACCCATCAAGTTCCAGAAACATAAAGTTACTTGCCAAGAACAGCTGATTAATGTGTAGCAGAGCTCAGACCAGAGCTTCATTCCAGAAGCTTCATCACTTGACCCCCGGGCTAATCCTTGGTGGGTCTTCAGTCTCTCCCTTTGCCTCTCTGTGTGCCCCAAACCAATTCCATGTTTTCCTCCCAACCCAGGGGACTGGGGGAACTATGTATCTTCTTCATGCAGGTTCTGGCTGCCTAGAAGGTCCTGCCCTGTTCACACAGAAGCTCCCCTTGACACTCTCCTCTTCTTTCACTCTTCTCTGACCTCTTTAAATGTCCAATTTCCTCCACTCTCTGTTCTAATAGTGAACAGATATTAACACATGACTGATATTAAATGTTTGTAATCCTTATGTCTCAGCAATATTTACAATCTAACATCTGATACCAGGAAAAAGCAATGCTCAGTCTAGAGGAAGAGTTCTGCTATGGTGAAAATGCAGGGAGCATAATGGATGGGCAGGGCCTGTATGAAGATAAAAACAGAGAATCCTTTCAGTGTTCTTTCTGTGCCAGGCACTGTGCTAAAGGTTTTGCATGTGCTGACTCATTTACTTCCCATAACAACCCTATGAGATGGGTAATACTATTATCCTCCTTTTTTATAGATGAGGAGACAGACACAGAGAGGTTAATCAACTTGTCGAAGGTCCCAAGTTAGATTACGGCAAAGCTGGATTTGAATCCAGGCAGTCTAGTGCAGCTTCTGTGCTCTTAAGTAGTAGTTTGTCTAGCAGCTTCTCTGAGCCTCCCTCCAGCCCAACACACAACACAAAAGCAACTGAATTTAGTCTACATGAAACACTTGCCAAGTCCACAGTGCCTTGGAGAAGGAGGGAGCTAAGACTCCATCAAAAATTGCGCTTTTCTGGTCTCTCTAGATCCATGGAAACTCACCGGGGAAGAGTCATTTTCTATCGGCTTTGGACTTCTGCTATGAAATGGCAATTCCTTTGAGCCAGTCTGTCTAAAGTCGGCAGCAAAGGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATTCCACTCTCGGGCTGACACCCACCTCCTCCCCAGCAGCCTCTTCCCTGCCTCCACCATTCCAGGNN
|
pathogenic
| 13,797 |
Considering the genetic mutation at chromosome 1, position 119422056, impacting HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']
|
GTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAG
|
GTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAA
|
pathogenic
| 13,810 |
Variant in gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2), located at chromosome 1 position 119422290: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']
|
CATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTA
|
CATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTANNNNN
|
pathogenic
| 13,822 |
The chromosome 1, position 119422317 genetic variant in gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency', 'Congenital_adrenal_hyperplasia']
|
CTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTT
|
CTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTNN
|
pathogenic
| 13,823 |
Is the genetic change at chromosome 1, position 119422348, within gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Congenital_adrenal_hyperplasia']
|
GAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTTCTACCACCATGTTCCCCAGGATCCAAGCCA
|
GAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTTCTACCACCATGTTCCCCAGGATCCAAGCCAN
|
pathogenic
| 13,824 |
Evaluate if the mutation on chromosome 1 at position 119422367 in HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['3_beta-Hydroxysteroid_dehydrogenase_deficiency']
|
CACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTGATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTTCTACCACCATGTTCCCCAGGATCCAAGCCAACCACTCAACCAATCGATT
|
CACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACCTTTCCAGTTTCTACATAGCCATACCCCTAAGTACCGCTATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTTCCACACAGCTCAGGTGATGCTGACAGGTCTTCCCAGTGCAGGTGTTATCAGCAGAGGGCACACTCCCTCCCCAGTCCTCCACCAGGCTCCACAGGAAATGCCAGGGCAGGATTTAAAGGAAGGTTTATCACCCCCACTTTATATAACTGGGTAACAGAGTCATAGCCAGAATTGGAAGCAGCTTTTCCAGGGAACACACAATCAGGAAAGGAGTGTGGGTTTCCAGCATCTCCCCACAACCCACTGTTTGCTCGATGACTCCAGGGATGGTCTTTGTGACAAAGTTTTATTAATCCATTGCAAAATGAGAAAAATACCAGCAATTCTATGTATATCTAAGAGTGTATATTGCCTATATTCAACTGTGAATTTGTGTGTGTAACACAAATTCTTCCACTGCCCTTTCTTGCCTAAGGACTGATTGGGACTGTTCATATTCTCAGAGTATAGCCTCCTGATTTTTTAGATTTTAAATGATCTGTCTTTAATTGTATTGATGACAAATCATACTTTTTCAATATCCTTACTTGGCAAAAAATAAAGTGATTACCCTAGGTCCTTTTCCAAAATTAAAGTGTGTGTGTATATATATATATGTATATATATATGTATATATATATATGTATATATATGTATATATATATATGTATATATATATGTATATATATATGTATATATATATGTATATATATATTTTATAATATATATATATATATACACACACGTATACATACACACACACACACACACACCACACACAAACATAGGTCCATGAAACCCAAAAGTCTAGAAATTCTTGCTTTCTAGAACCCAAATGTCAGTTTCTTTTTATTTTTGTGTTTTTCCTACGGCTGTATCATGACCCAATCTCAGTCAGAGCCACAGAAGAATGCACCCTGAGTCTGTTATAACCACTGCACTTGGGAGTGGGGAGTGGGGCACATGGATCTGTGCATGTGGTTGCAGCTCCTTTGGGATATTTCCTGACACTGTCATCATGCTCTTCGTGGGCAGGTACCCAGCTACTGTTGGAGGCCTGTGTCCAAGCCAGTGTGCCAGTCTTCATCTACACCAGTAGCATAGAGGTAGCCGGGCCCAACTCCTACAAGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAAAACACATGGCCCACTCCATACCCGTACAGCAAAAAGCTTGCTGAGAAGGCTGTGCTGGCGGCTAATGGGTGGAATCTAAAAAATGGTGATACCTTGTACACTTGTGCGTTAAGACCCACATATATCTATGGGGAAGGAGGCCCATTCCTTTCTGCCAGTATAAATGAGGCCCTGAACAACAATGGGATCCTGTCAAGTGTTGGAAAGTTCTCTACAGTCAACCCAGTCTATGTTGGCAACGTGGCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCCCAAGAAGGCCCCAAGTGTCCGAGGTCAATTCTATTACATCTCAGATGACACGCCTCACCAAAGCTATGATAACCTTAATTACATCCTGAGCAAAGAGTTTGGCCTCCGCCTTGATTCCAGATGGAGCCTTCCTTTAACCCTATGTACTGGATTGGCTTCCTGCTGGAAGTAGTGAGCTTCCTACTCAGCCCAATTTACTCCTATCAACCCCCCTTCAACCGCCACACAGTCACATTATCAAATAGTGTGTTCACCTTCTCTTACAAGAAGGCTCAGCGAGATCTGGCGTATAAGCCACTCTACAGCTGGGAGGAAGCCAAGCAGAAAACCGTGGAGTGGGTTGGTTCCCTTGTGGACCGGCACAAGGAGACCCTGAAGTCCAAGACTCAGTGATTTAAGGATGACAGAGATGTGCATGTGGGTATTGTTAGGAAATGTCATCAAACTCCACCCACCTGGCTTCATACAGAAGGCAACAGGGGCACAAGCCCAGGTCCTGCTGCCTCTCTTTCACACAATGCCCAACTTACTGTCTTCTTCATGTCATCAAAATCTGCACAGTCACTGGCCCAACCAGAACTTTCTGTCCTAATCATACACCAGAAGACAAACAATATGATTTGCTGTTACCAAATCTCAGTGGCTGATTCTGAACAATTGTGGTCTCTCTTAACTTGAGGTTCTCTTTTGACTAATAGAGCTCCATTTCCCCTCTTAAATGAGAAAGCATTTCTTTTCTCTTTAATCTCCTATTCCTTCACACAGTTCAACATAAAGAGCAATAAATGTTTTAATGCTTAACATGGAGAGAAGCATGGTTTCTGTTAATACATACTTTCATCCTTTTCCTTTCATTTCCAACTATCACCATCTCCAACTTAGAAGAGTAGCATGAAACCAGGGTTGGGGGGTGGGCAGAGTAGTAGGAGGTACAGAAAGGGCAGATGAATACTGAATAAGCTCTACTATGTTTTAGGCATGTATGAAATGAACTACATATGACATATATTATCTCATTTAATACTCATCAGAAACCTGTCAATTGAGGAAAATGACAAGACACGTCTCAATCATTTTAGGAGATTCACTTGAAGATGTGCCCAGGAGACAGGCCTATGCCTTTCTCCAAAGATGATTTTGAGGGCTCCAATTCAAAGGAGGGAAAGAGAGGGATATTGAGAAGCACACAGTTTTTATGTAACGGGATGGTAGGAAAAAAATAGTCATTCATGCCTTTGTCTGGCTCAGTGAATCTGCATTTTTTACATAAGATGACATAAACAGTAGGGGCAGAGGGAAATGCAGATTCCCTGCATTTTACATAAAATAACAGACAAAATGGGGTAGGGGAAAAATCAGATAGGCATTTGTGTCTGGGGTAACTGCACCGGTAGTGATAAGCTATCAATTTGCATTGCCGTGGTGAAGTTTTAACAGCTCACTAGGAAATTCCTTGTGGGCAAAATATGGGGGAGGCATGTAGCTTTTCATCTTGTAGCCATCTTGTTTAGGCACCAAAAGGGGGGAGGCAGGTTTGCCTGACCCAGTTCCCAGCTTGATTTTTCCCTTTGGCTAAATGAGATTGGGGCCCCATAATTTAATTTTTTTCACGTTTTCCCCCTTTTTTTCTCTAAACTCTTTTGAAGTACTGCATTTTGAAAGAAATATGCATTCCTGGCCTCTGGTTGCTTTTTCTTTTTTTTTTTTTTTGCTGGTTTCTCATGGCTAGGATGGTTTATTCCTAGAAGTTCAGGTCCCACATCACTAGGAAGGCTCATTCCTGGGAGGTTATGTCTCACCTTGCTAGGAAGGCTTATTCCTAGGAAATCTTGTCCCATGAAGAAAAAAAAAAAATGGAGGGGTGGGGTGGAAGAAGGGAAAATGAGAGGAAACCAGAAAGAGAGAGAGAGAGAGAGAAAAGAAAATATATAGGGACCTAGGCCAGATTTATAGCAACAAAAGGAAAGCAAACCTGGAAGCTGGGTGAGGGTATATTACTGCCTCCTCAATTAGAGCAATTCTTTGGGCCTTTTAGTTGCACGTTGACTTACATGCAAGCACATACCATAACAACATTGTAAGCAAAAACAGGATGGAACACAAATTATTACTATTATTCCTATTATAAACAATAGTTTCTACCACCATGTTCCCCAGGATCCAAGCCAACCACTCAACCAATCGATTN
|
pathogenic
| 13,825 |
Benign or pathogenic: chromosome 1, position 119735314, gene PHGDH (phosphoglycerate dehydrogenase) variant? Disease(s) if pathogenic?
|
pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency']
|
ATAACCATTTTAGCTTCTGCCCTAGAATTACTGAATTTGAAGTCCTCTTTCCTATTACGTTCTTTTTTATTTTGTTTTATTTTTTTTTTTTTTTCTGAGACATCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGTGATCCTCCTGCCTCAGCCTTCTGGGTGGCACAGGTGCATGCCACCAAACTTGGCTAGTTTTTTAAATTTTTTGTAGGGGGGGGGGTCTGACTATGTTTCTCCAGCTAGTCTCTGACTCCTGGGGTCAAATGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCAATGGCACCCATCTTTCCCATTATATTCTAAAGTATCTATACTGTATCCCTAATTTCAAAAGTAATTTATGAATAATGTAGTAGAAAACTTGAAAGCACAGGAAAGCAAAAAGGAGAAAAATAATTCCACTACCCAGAGACAACCGCTGTTAAAGTACTATGCTGTGTATTCTTTGTTTTTGTCTAATCCTGGGCTCACTCTTTACATTCTGTCTCGGGGTTAAGGGGGATTTCTCTTCAAATAATTCCCAGTGATTGAATGTGAGAGTGAGAGATGGCTGCAATCATCTGCCCAGCTCCTTTATTTAGGGTTGAGGACCCAGGTCCAGGGGAACTGACCTGTACCTTTCCACACAGTGGGCAGTGACTGGGGGAGGACACAGGTCAGGCTTCCTGATTTAGAGGGCATGCAGTCTTGCTCCCACTCTGGGTCCTGCCTTGTACCCCTGTTGTCCTCCTCCTTCGCTTCTGCTCACTCTGTTTTAGTACCTGATGCACCTGTTTCCTGGACTGGACCCTCCAGCTGCAGCTGCCATTTCTCCTTCTCCCTTTCCTGGCTGTCCGCTCCCTACATGACTGCCCTCCCTCCCTCAGGACTCCCTGCTTTCTAAGGACTTCCAAGCTCCACCTTGTCCAGACCTATATGAGCTATTGTTGCATCTGTGTGTGATCACAGCATGGAGGCAGACGCACCTTCTTTTGAGCTCTGGCTGTGCCCCTCCTCATTGTGGAAGCCCTGCTTCCCTCAGCTCTCAAGCAGACAAGAACAGTCCCAGCATCATTGTGTGGTCATGAGAATTAATTAAGCTGATCATGGTACTTAGTATATGGTAAATAGTACTTAGTATGTGGAACATGGTACTTAGTGTATGGTAAATTAACTGGAGAATTAATTAAGCTGAGCATGGTAGTTAGTATATGGTAAATGCTCAAAAAATGTTTGCCATTCTTAATAATAACAATACTAATAATTAAGAATGACACTTCCTCCCTCTCTCTTGCTTCCAACCAGACTATAGGGTATGACCCCATCATTTCCCCAGAGGTCTCGGCCTCCTTTGGTGTTCAGCAGCTGCCCCTGGAGGAGATCTGGCCTCTCTGTGATTTCATCACTGTGCACACTCCTCTCCTGCCCTCCACGACAGGTAGGTGTGTCCTTACATTGTGGATTGGTCACAGAAGCCACAGACCAGTTAACAAATGGGCCCTCCATCTGGGCCTTCCCCAGACAGTGGTAACCAGCTGTGGGGAGAGGTCCACCTGGGTCCTGCAGAGGCTGGTGTTTTGTTAGACACCCCTACGTTGGATAGGGGAGGGTGAGCCAGCTAGAAGTGCTTGGGGTCTAGGTAAGCTGGGCACAGGGACAACCAGTGACCCCCATGGATGCTTTCTGCAGCCCCTGCAGGGCTTTCTGATTCCCAGACCCACTTGAAACAGTAATATCTCAAGAATTTCTAAGATGTTTCTAAACTGAGTCTGGCCCAGATCCATAACAGGGACTCCTGCCCCAGAGCATCTGAGGAGGAAGAGATGAGAGCAAAGAGGCTGCCGTCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGCAGAGAGGCCCATGGCAGGGAAAGCCTGGCGTTTTACAGAAAGCCTCTAGCTTATTGTCTCTTTCATCCATGGTAAAAGGAGAAAACTGTGTTGCCAAAAACACACCTTTGTGGTTTGAGGAGTCCTTGCGGAGCCTGGTATGGAGGCAGCTATGTGGTTTTCTGCAAAACTCGGGCTTTAAAGGGGACCCAGTTCCTGGTTCCGGGCTTCTCAGACTGCTAACATATTGACAAAGATAAAGCCACAAATCAGTTCTGAAGTTGAGGGTCTGGAGCAGGAAGAGAGGGGGCTTTAGTGTATAGTTGAGGGACCCTGATGGAAATGCAGTCCCATTGCCAAGAAAATGTCCTTTTCAGTGTCCATGGGCATTCTTTTTCCCTTCTTCTCTTGCTGGGTGGACAGAAGCCCGAGGATACTGGCAGTATTCCCTCAGGGTCCTCGGGGTGGGCTGCTTTCCCAGCTGGAGCAGAGGCTCAGCCTCACACCAGATCCAGTAGGGAAGAGTGCATTTGCACTCGAATCCTTTTGGCTCCTCTCCTGAAAGATCCTGTCCCCAACATTGGAGCTTCCCCTGGTGAGGAAGGGGAAAGGACATGGACTTTGGATTAGGTAGTTGTGGTTCGCAGGTTACTAGCTGTGTGTCCTTGGAAGGTCACTGGCCCTCTCTGAGCCCCTGTAGCACTCACTGTGTACTCCCAGCCCAGGGCACACAGTGCCTTTTGGTTTGTAACCTTGGTCATCTTTCTCAGCTCTTAGATCATAAGCTCCCTGAAGGCAGGGCAAGCCTTGTCCATCTTTGTATCACCATCCTCCCTAACACAGCACCTTCTCCTGCTCTCTTCAGCATCCTTGAACCACTTGCTGGTGGTACTTACATGGTTACATGTGGCCGGGACTCACAGGATTACATGGTTACATGTGGCCAGGACTCACAGGGTTAAATGGTCAAAATTCAATGGGACCAACAGAGCCCTGAGGAGAATGGCCGGAAGATGCCTAAATAACATACCCAAGGGCAATCTTCTCAGTGAGCAGAAGGGTGGAAAAGACACTGGAGGGTGGGGTGGAGGTGCCACAGATGGGCAACCTGTCCTGATGAGAGCCAAGATGCAGTTACCTGCGTGGAGTGTCTTGGAAGAGCAGGACACTGTGCTAAAAGTCCAGCAAGGCACATCGACAGCAAGTGCTGCATGGATGCAGGGGGGTGAGTTTCGGGGAAAAGCCCAGTAACAACAACAACAGTAGCTCCTATTGGTCAAGGGCCTCCCATGTTAAAGGTGCATAATCCCCACAGTAATGTTATGAGGGAGATAGGATCAACCCATTTCACAGATAAAGAAACTGAGGCTTAGATCAAGGTTCACCCCCAAGGCACCTAGGTGGTTAAGTGGTGAAGGTGAGATTTGAATCTGGTTCACACTTTGTGCTGTGTCCACTCTGCTGAGATGGAACATTCATGTGGAAGCCCATTATTGAGTCCAGTGACCACCCTGACAAAATAGAAGTGGAAGGCACCAGAACTCCTGACTGCCTTCCCTCCAACTTTCCTGTTGCCTGGGGTGGCCCAAGAGGGTGTGGCCAGTCCATGGCAGCCAACTTAGAGGTATCTCTTTCTGGGCAGGAGCCGCCACGGGACCGGGCCTTGGTGGACCATGAGAATGTCATCAGCTGTCCCCACCTGGGTGCCAGCACCAAGGAGGCTCAGAGCCGCTGTGGGGAGGAAATTGCTGTTCAGTTCGTGGACATGGTGAAGGGGAAATCTCTCACGGGGGTTGTAAGTATCACCACCTGGGGCTGGGGGCCAGGAGTCAGAGGGAGGAGAGGAAGGAAGGCATCTTGTAGGGGCTGGTGGCAGCGTGGGTGAATAGA
|
ATAACCATTTTAGCTTCTGCCCTAGAATTACTGAATTTGAAGTCCTCTTTCCTATTACGTTCTTTTTTATTTTGTTTTATTTTTTTTTTTTTTTCTGAGACATCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCAACCTCCTAGGCCCAAGTGATCCTCCTGCCTCAGCCTTCTGGGTGGCACAGGTGCATGCCACCAAACTTGGCTAGTTTTTTAAATTTTTTGTAGGGGGGGGGGTCTGACTATGTTTCTCCAGCTAGTCTCTGACTCCTGGGGTCAAATGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCAATGGCACCCATCTTTCCCATTATATTCTAAAGTATCTATACTGTATCCCTAATTTCAAAAGTAATTTATGAATAATGTAGTAGAAAACTTGAAAGCACAGGAAAGCAAAAAGGAGAAAAATAATTCCACTACCCAGAGACAACCGCTGTTAAAGTACTATGCTGTGTATTCTTTGTTTTTGTCTAATCCTGGGCTCACTCTTTACATTCTGTCTCGGGGTTAAGGGGGATTTCTCTTCAAATAATTCCCAGTGATTGAATGTGAGAGTGAGAGATGGCTGCAATCATCTGCCCAGCTCCTTTATTTAGGGTTGAGGACCCAGGTCCAGGGGAACTGACCTGTACCTTTCCACACAGTGGGCAGTGACTGGGGGAGGACACAGGTCAGGCTTCCTGATTTAGAGGGCATGCAGTCTTGCTCCCACTCTGGGTCCTGCCTTGTACCCCTGTTGTCCTCCTCCTTCGCTTCTGCTCACTCTGTTTTAGTACCTGATGCACCTGTTTCCTGGACTGGACCCTCCAGCTGCAGCTGCCATTTCTCCTTCTCCCTTTCCTGGCTGTCCGCTCCCTACATGACTGCCCTCCCTCCCTCAGGACTCCCTGCTTTCTAAGGACTTCCAAGCTCCACCTTGTCCAGACCTATATGAGCTATTGTTGCATCTGTGTGTGATCACAGCATGGAGGCAGACGCACCTTCTTTTGAGCTCTGGCTGTGCCCCTCCTCATTGTGGAAGCCCTGCTTCCCTCAGCTCTCAAGCAGACAAGAACAGTCCCAGCATCATTGTGTGGTCATGAGAATTAATTAAGCTGATCATGGTACTTAGTATATGGTAAATAGTACTTAGTATGTGGAACATGGTACTTAGTGTATGGTAAATTAACTGGAGAATTAATTAAGCTGAGCATGGTAGTTAGTATATGGTAAATGCTCAAAAAATGTTTGCCATTCTTAATAATAACAATACTAATAATTAAGAATGACACTTCCTCCCTCTCTCTTGCTTCCAACCAGACTATAGGGTATGACCCCATCATTTCCCCAGAGGTCTCGGCCTCCTTTGGTGTTCAGCAGCTGCCCCTGGAGGAGATCTGGCCTCTCTGTGATTTCATCACTGTGCACACTCCTCTCCTGCCCTCCACGACAGGTAGGTGTGTCCTTACATTGTGGATTGGTCACAGAAGCCACAGACCAGTTAACAAATGGGCCCTCCATCTGGGCCTTCCCCAGACAGTGGTAACCAGCTGTGGGGAGAGGTCCACCTGGGTCCTGCAGAGGCTGGTGTTTTGTTAGACACCCCTACGTTGGATAGGGGAGGGTGAGCCAGCTAGAAGTGCTTGGGGTCTAGGTAAGCTGGGCACAGGGACAACCAGTGACCCCCATGGATGCTTTCTGCAGCCCCTGCAGGGCTTTCTGATTCCCAGACCCACTTGAAACAGTAATATCTCAAGAATTTCTAAGATGTTTCTAAACTGAGTCTGGCCCAGATCCATAACAGGGACTCCTGCCCCAGAGCATCTGAGGAGGAAGAGATGAGAGCAAAGAGGCTGCCGTCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGCAGAGAGGCCCATGGCAGGGAAAGCCTGGCGTTTTACAGAAAGCCTCTAGCTTATTGTCTCTTTCATCCATGGTAAAAGGAGAAAACTGTGTTGCCAAAAACACACCTTTGTGGTTTGAGGAGTCCTTGCGGAGCCTGGTATGGAGGCAGCTATGTGGTTTTCTGCAAAACTCGGGCTTTAAAGGGGACCCAGTTCCTGGTTCCGGGCTTCTCAGACTGCTAACATATTGACAAAGATAAAGCCACAAATCAGTTCTGAAGTTGAGGGTCTGGAGCAGGAAGAGAGGGGGCTTTAGTGTATAGTTGAGGGACCCTGATGGAAATGCAGTCCCATTGCCAAGAAAATGTCCTTTTCAGTGTCCATGGGCATTCTTTTTCCCTTCTTCTCTTGCTGGGTGGACAGAAGCCCGAGGATACTGGCAGTATTCCCTCAGGGTCCTCGGGGTGGGCTGCTTTCCCAGCTGGAGCAGAGGCTCAGCCTCACACCAGATCCAGTAGGGAAGAGTGCATTTGCACTCGAATCCTTTTGGCTCCTCTCCTGAAAGATCCTGTCCCCAACATTGGAGCTTCCCCTGGTGAGGAAGGGGAAAGGACATGGACTTTGGATTAGGTAGTTGTGGTTCGCAGGTTACTAGCTGTGTGTCCTTGGAAGGTCACTGGCCCTCTCTGAGCCCCTGTAGCACTCACTGTGTACTCCCAGCCCAGGGCACACAGTGCCTTTTGGTTTGTAACCTTGGTCATCTTTCTCAGCTCTTAGATCATAAGCTCCCTGAAGGCAGGGCAAGCCTTGTCCATCTTTGTATCACCATCCTCCCTAACACAGCACCTTCTCCTGCTCTCTTCAGCATCCTTGAACCACTTGCTGGTGGTACTTACATGGTTACATGTGGCCGGGACTCACAGGATTACATGGTTACATGTGGCCAGGACTCACAGGGTTAAATGGTCAAAATTCAATGGGACCAACAGAGCCCTGAGGAGAATGGCCGGAAGATGCCTAAATAACATACCCAAGGGCAATCTTCTCAGTGAGCAGAAGGGTGGAAAAGACACTGGAGGGTGGGGTGGAGGTGCCACAGATGGGCAACCTGTCCTGATGAGAGCCAAGATGCAGTTACCTGCGTGGAGTGTCTTGGAAGAGCAGGACACTGTGCTAAAAGTCCAGCAAGGCACATCGACAGCAAGTGCTGCATGGATGCAGGGGGGTGAGTTTCGGGGAAAAGCCCAGTAACAACAACAACAGTAGCTCCTATTGGTCAAGGGCCTCCCATGTTAAAGGTGCATAATCCCCACAGTAATGTTATGAGGGAGATAGGATCAACCCATTTCACAGATAAAGAAACTGAGGCTTAGATCAAGGTTCACCCCCAAGGCACCTAGGTGGTTAAGTGGTGAAGGTGAGATTTGAATCTGGTTCACACTTTGTGCTGTGTCCACTCTGCTGAGATGGAACATTCATGTGGAAGCCCATTATTGAGTCCAGTGACCACCCTGACAAAATAGAAGTGGAAGGCACCAGAACTCCTGACTGCCTTCCCTCCAACTTTCCTGTTGCCTGGGGTGGCCCAAGAGGGTGTGGCCAGTCCATGGCAGCCAACTTAGAGGTATCTCTTTCTGGGCAGGAGCCGCCACGGGACCGGGCCTTGGTGGACCATGAGAATGTCATCAGCTGTCCCCACCTGGGTGCCAGCACCAAGGAGGCTCAGAGCCGCTGTGGGGAGGAAATTGCTGTTCAGTTCGTGGACATGGTGAAGGGGAAATCTCTCACGGGGGTTGTAAGTATCACCACCTGGGGCTGGGGGCCAGGAGTCAGAGGGAGGAGAGGAAGGAAGGCATCTTGTAGGGGCTGGTGGCAGCGTGGGTGAATA
|
pathogenic
| 13,868 |
Is the variant located on chromosome 1 at position 119737221, gene PHGDH (phosphoglycerate dehydrogenase), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency']
|
TCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGCAGAGAGGCCCATGGCAGGGAAAGCCTGGCGTTTTACAGAAAGCCTCTAGCTTATTGTCTCTTTCATCCATGGTAAAAGGAGAAAACTGTGTTGCCAAAAACACACCTTTGTGGTTTGAGGAGTCCTTGCGGAGCCTGGTATGGAGGCAGCTATGTGGTTTTCTGCAAAACTCGGGCTTTAAAGGGGACCCAGTTCCTGGTTCCGGGCTTCTCAGACTGCTAACATATTGACAAAGATAAAGCCACAAATCAGTTCTGAAGTTGAGGGTCTGGAGCAGGAAGAGAGGGGGCTTTAGTGTATAGTTGAGGGACCCTGATGGAAATGCAGTCCCATTGCCAAGAAAATGTCCTTTTCAGTGTCCATGGGCATTCTTTTTCCCTTCTTCTCTTGCTGGGTGGACAGAAGCCCGAGGATACTGGCAGTATTCCCTCAGGGTCCTCGGGGTGGGCTGCTTTCCCAGCTGGAGCAGAGGCTCAGCCTCACACCAGATCCAGTAGGGAAGAGTGCATTTGCACTCGAATCCTTTTGGCTCCTCTCCTGAAAGATCCTGTCCCCAACATTGGAGCTTCCCCTGGTGAGGAAGGGGAAAGGACATGGACTTTGGATTAGGTAGTTGTGGTTCGCAGGTTACTAGCTGTGTGTCCTTGGAAGGTCACTGGCCCTCTCTGAGCCCCTGTAGCACTCACTGTGTACTCCCAGCCCAGGGCACACAGTGCCTTTTGGTTTGTAACCTTGGTCATCTTTCTCAGCTCTTAGATCATAAGCTCCCTGAAGGCAGGGCAAGCCTTGTCCATCTTTGTATCACCATCCTCCCTAACACAGCACCTTCTCCTGCTCTCTTCAGCATCCTTGAACCACTTGCTGGTGGTACTTACATGGTTACATGTGGCCGGGACTCACAGGATTACATGGTTACATGTGGCCAGGACTCACAGGGTTAAATGGTCAAAATTCAATGGGACCAACAGAGCCCTGAGGAGAATGGCCGGAAGATGCCTAAATAACATACCCAAGGGCAATCTTCTCAGTGAGCAGAAGGGTGGAAAAGACACTGGAGGGTGGGGTGGAGGTGCCACAGATGGGCAACCTGTCCTGATGAGAGCCAAGATGCAGTTACCTGCGTGGAGTGTCTTGGAAGAGCAGGACACTGTGCTAAAAGTCCAGCAAGGCACATCGACAGCAAGTGCTGCATGGATGCAGGGGGGTGAGTTTCGGGGAAAAGCCCAGTAACAACAACAACAGTAGCTCCTATTGGTCAAGGGCCTCCCATGTTAAAGGTGCATAATCCCCACAGTAATGTTATGAGGGAGATAGGATCAACCCATTTCACAGATAAAGAAACTGAGGCTTAGATCAAGGTTCACCCCCAAGGCACCTAGGTGGTTAAGTGGTGAAGGTGAGATTTGAATCTGGTTCACACTTTGTGCTGTGTCCACTCTGCTGAGATGGAACATTCATGTGGAAGCCCATTATTGAGTCCAGTGACCACCCTGACAAAATAGAAGTGGAAGGCACCAGAACTCCTGACTGCCTTCCCTCCAACTTTCCTGTTGCCTGGGGTGGCCCAAGAGGGTGTGGCCAGTCCATGGCAGCCAACTTAGAGGTATCTCTTTCTGGGCAGGAGCCGCCACGGGACCGGGCCTTGGTGGACCATGAGAATGTCATCAGCTGTCCCCACCTGGGTGCCAGCACCAAGGAGGCTCAGAGCCGCTGTGGGGAGGAAATTGCTGTTCAGTTCGTGGACATGGTGAAGGGGAAATCTCTCACGGGGGTTGTAAGTATCACCACCTGGGGCTGGGGGCCAGGAGTCAGAGGGAGGAGAGGAAGGAAGGCATCTTGTAGGGGCTGGTGGCAGCGTGGGTGAATAGATTCAGCCCTGGGAGCTGAAGATAAGGGAAATCTGCTTGAGTCAGCACTCTCCGGAGCAGGTGGGCGGGAGCCTCCCGTCTCCAGCCTTGATAGCAGAGGCCTTGGCAGCAGAGAGCCCGGCTCAGGCCTGTTATATCGTAGTCTTGCTGCAGAGATTGTGGCCCTTCCCAGGCCCAGCCTCTAGAGAAAGGCTCCTTTGTTCTCCACATGCCGTGGGAGTGAAGGAGTGCTGCTTGGGTGCCAGCTGGACGCAGCCGCAGCAGGTGGGGATGTGGTTGGGGACGGCCATGTAGAAATTTGCACCCTGTAAGCTCCCCAGACCCTGCCTTGACAGCCTGCCCTACCTACTCCCAAATGAGCCCTCTGTGCTGGCTGACCCCCTTGCTTTCCCCAAATCAAGGCATAAGACCCCCACTTCTTGTCTTTGCTTCCATCAAGCCCTTCCTGGCATGTGCGTCTCCTACGAGCTTAACCTGACTTACACTTCAAGTCCTGTCTCATTCATTCAGTCTGTGGATATTCCTTAAGTTTCACTGGGTACCAGACATTGTCATAGCTCTTGGGAGACACGGGTGCATGAGGGAGGCATAGCTCTCCTTCCAGGGGCTTGCTGCCTCCTTCTGAAGTCTTGCTTGGCCTTTCCAGCCCCTTCTCAATTCTGAGAACCATGTTCTTTCTTGTTATTAAGGTTCAGTTCCATGGGGTGTTTTTTTTTTTCCCTAATCTTTCTACTTAACCTAAGTTCTAAGTTCCCTGAGGACAAAAAAACATGACTTAAGCCTCTCTGCAGCTTGTGTGGGTGGGCCCAGGCCATGGAGTCAAAGGGTCAGGAAAATGGGCTGGGTGTTCTTGGTTGTCCTGGCTGACCCTCAGCTGGGTGATTTTCGCTGGTGAGGACAGCACTGTGGCAGGAGAGACGGGGATTTTGGTTCTGCCCTCCCACCTCTGGATTGAGAGCCCAGCCCTCCAGGCCTCTCTGCCCCCTCCATCCTGAGGAAAGAAGGGTGCCTCCTGCTGCCCAGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCATTACCATTAGGTAGCAGTGACATTCCAGAGCTTTTCCTGAAAGGGACTCCTGAATATAAGCTCTGGCAGAGCGAGGGGGTGGGGGAGGGAGGGGGACCTTGCAGAGAGATGGGGAGGAGGGGGTGAGAGGTGTATGGGCTCTGCCCTGCTGGGTGTATCTGCTGCAGGACACAGAGTTCCATCAAATGGACCACACAGTGTCCCCATCTTAGGAGGTGAAACCTCTTGGTCAAAATAACTACCCTTAGCAAATTGAACTGTTCACCCACATCAGCAAATAGTCTTAGAGTAGCCATTTGGAAAAAGAGACATTTTTGTCACATAAGAAATATATTTTCCTAATTCTTCCCTGCATTTTCCCCAGTTCAATTCTGTTCTAACCTCAGACACAGAATAACATTAGGGTCAGGTTGGTGTCCCAAAGTGCCTGACTCCTCCCTGGAATTCTCCCACCTGTCCACCAGGGAAGACTGAGAATCCTCCTTTTACTTGGGAGCCCTGTGATGGACACCTCCCCGGGCTTGGGCTCTGCAGGCCCACACAGAGGACAGAGAGATGTGCCGAGGTG
|
TCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAGTGCCTGGCAGCCTCAGCGTCAGGAGGACGGGAGAGATAGGGAGCAGAGAGGCCCATGGCAGGGAAAGCCTGGCGTTTTACAGAAAGCCTCTAGCTTATTGTCTCTTTCATCCATGGTAAAAGGAGAAAACTGTGTTGCCAAAAACACACCTTTGTGGTTTGAGGAGTCCTTGCGGAGCCTGGTATGGAGGCAGCTATGTGGTTTTCTGCAAAACTCGGGCTTTAAAGGGGACCCAGTTCCTGGTTCCGGGCTTCTCAGACTGCTAACATATTGACAAAGATAAAGCCACAAATCAGTTCTGAAGTTGAGGGTCTGGAGCAGGAAGAGAGGGGGCTTTAGTGTATAGTTGAGGGACCCTGATGGAAATGCAGTCCCATTGCCAAGAAAATGTCCTTTTCAGTGTCCATGGGCATTCTTTTTCCCTTCTTCTCTTGCTGGGTGGACAGAAGCCCGAGGATACTGGCAGTATTCCCTCAGGGTCCTCGGGGTGGGCTGCTTTCCCAGCTGGAGCAGAGGCTCAGCCTCACACCAGATCCAGTAGGGAAGAGTGCATTTGCACTCGAATCCTTTTGGCTCCTCTCCTGAAAGATCCTGTCCCCAACATTGGAGCTTCCCCTGGTGAGGAAGGGGAAAGGACATGGACTTTGGATTAGGTAGTTGTGGTTCGCAGGTTACTAGCTGTGTGTCCTTGGAAGGTCACTGGCCCTCTCTGAGCCCCTGTAGCACTCACTGTGTACTCCCAGCCCAGGGCACACAGTGCCTTTTGGTTTGTAACCTTGGTCATCTTTCTCAGCTCTTAGATCATAAGCTCCCTGAAGGCAGGGCAAGCCTTGTCCATCTTTGTATCACCATCCTCCCTAACACAGCACCTTCTCCTGCTCTCTTCAGCATCCTTGAACCACTTGCTGGTGGTACTTACATGGTTACATGTGGCCGGGACTCACAGGATTACATGGTTACATGTGGCCAGGACTCACAGGGTTAAATGGTCAAAATTCAATGGGACCAACAGAGCCCTGAGGAGAATGGCCGGAAGATGCCTAAATAACATACCCAAGGGCAATCTTCTCAGTGAGCAGAAGGGTGGAAAAGACACTGGAGGGTGGGGTGGAGGTGCCACAGATGGGCAACCTGTCCTGATGAGAGCCAAGATGCAGTTACCTGCGTGGAGTGTCTTGGAAGAGCAGGACACTGTGCTAAAAGTCCAGCAAGGCACATCGACAGCAAGTGCTGCATGGATGCAGGGGGGTGAGTTTCGGGGAAAAGCCCAGTAACAACAACAACAGTAGCTCCTATTGGTCAAGGGCCTCCCATGTTAAAGGTGCATAATCCCCACAGTAATGTTATGAGGGAGATAGGATCAACCCATTTCACAGATAAAGAAACTGAGGCTTAGATCAAGGTTCACCCCCAAGGCACCTAGGTGGTTAAGTGGTGAAGGTGAGATTTGAATCTGGTTCACACTTTGTGCTGTGTCCACTCTGCTGAGATGGAACATTCATGTGGAAGCCCATTATTGAGTCCAGTGACCACCCTGACAAAATAGAAGTGGAAGGCACCAGAACTCCTGACTGCCTTCCCTCCAACTTTCCTGTTGCCTGGGGTGGCCCAAGAGGGTGTGGCCAGTCCATGGCAGCCAACTTAGAGGTATCTCTTTCTGGGCAGGAGCCGCCACGGGACCGGGCCTTGGTGGACCATGAGAATGTCATCAGCTGTCCCCACCTGGGTGCCAGCACCAAGGAGGCTCAGAGCCGCTGTGGGGAGGAAATTGCTTTCAGTTCGTGGACATGGTGAAGGGGAAATCTCTCACGGGGGTTGTAAGTATCACCACCTGGGGCTGGGGGCCAGGAGTCAGAGGGAGGAGAGGAAGGAAGGCATCTTGTAGGGGCTGGTGGCAGCGTGGGTGAATAGATTCAGCCCTGGGAGCTGAAGATAAGGGAAATCTGCTTGAGTCAGCACTCTCCGGAGCAGGTGGGCGGGAGCCTCCCGTCTCCAGCCTTGATAGCAGAGGCCTTGGCAGCAGAGAGCCCGGCTCAGGCCTGTTATATCGTAGTCTTGCTGCAGAGATTGTGGCCCTTCCCAGGCCCAGCCTCTAGAGAAAGGCTCCTTTGTTCTCCACATGCCGTGGGAGTGAAGGAGTGCTGCTTGGGTGCCAGCTGGACGCAGCCGCAGCAGGTGGGGATGTGGTTGGGGACGGCCATGTAGAAATTTGCACCCTGTAAGCTCCCCAGACCCTGCCTTGACAGCCTGCCCTACCTACTCCCAAATGAGCCCTCTGTGCTGGCTGACCCCCTTGCTTTCCCCAAATCAAGGCATAAGACCCCCACTTCTTGTCTTTGCTTCCATCAAGCCCTTCCTGGCATGTGCGTCTCCTACGAGCTTAACCTGACTTACACTTCAAGTCCTGTCTCATTCATTCAGTCTGTGGATATTCCTTAAGTTTCACTGGGTACCAGACATTGTCATAGCTCTTGGGAGACACGGGTGCATGAGGGAGGCATAGCTCTCCTTCCAGGGGCTTGCTGCCTCCTTCTGAAGTCTTGCTTGGCCTTTCCAGCCCCTTCTCAATTCTGAGAACCATGTTCTTTCTTGTTATTAAGGTTCAGTTCCATGGGGTGTTTTTTTTTTTCCCTAATCTTTCTACTTAACCTAAGTTCTAAGTTCCCTGAGGACAAAAAAACATGACTTAAGCCTCTCTGCAGCTTGTGTGGGTGGGCCCAGGCCATGGAGTCAAAGGGTCAGGAAAATGGGCTGGGTGTTCTTGGTTGTCCTGGCTGACCCTCAGCTGGGTGATTTTCGCTGGTGAGGACAGCACTGTGGCAGGAGAGACGGGGATTTTGGTTCTGCCCTCCCACCTCTGGATTGAGAGCCCAGCCCTCCAGGCCTCTCTGCCCCCTCCATCCTGAGGAAAGAAGGGTGCCTCCTGCTGCCCAGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCATTACCATTAGGTAGCAGTGACATTCCAGAGCTTTTCCTGAAAGGGACTCCTGAATATAAGCTCTGGCAGAGCGAGGGGGTGGGGGAGGGAGGGGGACCTTGCAGAGAGATGGGGAGGAGGGGGTGAGAGGTGTATGGGCTCTGCCCTGCTGGGTGTATCTGCTGCAGGACACAGAGTTCCATCAAATGGACCACACAGTGTCCCCATCTTAGGAGGTGAAACCTCTTGGTCAAAATAACTACCCTTAGCAAATTGAACTGTTCACCCACATCAGCAAATAGTCTTAGAGTAGCCATTTGGAAAAAGAGACATTTTTGTCACATAAGAAATATATTTTCCTAATTCTTCCCTGCATTTTCCCCAGTTCAATTCTGTTCTAACCTCAGACACAGAATAACATTAGGGTCAGGTTGGTGTCCCAAAGTGCCTGACTCCTCCCTGGAATTCTCCCACCTGTCCACCAGGGAAGACTGAGAATCCTCCTTTTACTTGGGAGCCCTGTGATGGACACCTCCCCGGGCTTGGGCTCTGCAGGCCCACACAGAGGACAGAGAGATGTGCCGAGGTGN
|
pathogenic
| 13,874 |
Variant at chromosome position 119740430, chromosome 1, gene PHGDH (phosphoglycerate dehydrogenase): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency']
|
AGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCATTACCATTAGGTAGCAGTGACATTCCAGAGCTTTTCCTGAAAGGGACTCCTGAATATAAGCTCTGGCAGAGCGAGGGGGTGGGGGAGGGAGGGGGACCTTGCAGAGAGATGGGGAGGAGGGGGTGAGAGGTGTATGGGCTCTGCCCTGCTGGGTGTATCTGCTGCAGGACACAGAGTTCCATCAAATGGACCACACAGTGTCCCCATCTTAGGAGGTGAAACCTCTTGGTCAAAATAACTACCCTTAGCAAATTGAACTGTTCACCCACATCAGCAAATAGTCTTAGAGTAGCCATTTGGAAAAAGAGACATTTTTGTCACATAAGAAATATATTTTCCTAATTCTTCCCTGCATTTTCCCCAGTTCAATTCTGTTCTAACCTCAGACACAGAATAACATTAGGGTCAGGTTGGTGTCCCAAAGTGCCTGACTCCTCCCTGGAATTCTCCCACCTGTCCACCAGGGAAGACTGAGAATCCTCCTTTTACTTGGGAGCCCTGTGATGGACACCTCCCCGGGCTTGGGCTCTGCAGGCCCACACAGAGGACAGAGAGATGTGCCGAGGTGCCTGCGTTATGGGCCCTCTTAGTTGGACTTTCCTCTGCTGCTGCAGGCCCTCAGCCCCGGCAGTGGCAGCATGGTGCTCCAGATCTCCTCCCAGCAGCTAGCTGCTCCACCCCACCACCCTTCTTGTCTGTGACTCCTTGGAGAGGATCCAGGAGCCATGCAGCAAGAAGCCTGCAGACCTGTCACCTCCCACACTGGAGAGGCTCCCGTGAAGCCCGGCCTCAGCAGTCATTTCCCATACCATGATTCTTTCTCTGTTTAAAAAAAAAAAAATTCTTCCAATGATATCTTTATGAAAACAGAAAGAGAAGCATCTGTGTTTCCTTCTAATTACATCTTGTAGCTGCCTGTTTGATTTGCATCTTTCTAAGATGGTTGACTTTACAAGTTATCTCAATAAAAGTGGCCAGATGCCTAACTCAGAACCAGAGCATTTTGAACCACAAAATGGAATTGAAATTTTGGCCCAGAACAAGCTGGTTCTGTTATCAGGCCCCTGGGTGGGGCAGGGGGCAGCCAGCCAGGTCCTAGACATAACTTTTGGGGGATATGGGGCTTGTGTCCCCTCAGTGTCACAACATGCCTCACAGTGGACTTCGCATGCGTTGATATTTGAAGCACGATCATCAAAACTTTGTGATAATTGATCGTAGTGTTTAGTAACAATGTAAACACTTAAAAAAATTCAAGATAGAAAATAAAAATGAAGGCAAGTTGGGACTGCCAGAGAAGACCCGTCACTCCTCATCCAAGTTATCTGCGACTCCCATATGTTTTGTGTCAAAGACTCACCTTTATTGTGCTGTCCAATCCCTTCCCCAGTGCAGAAACAAGTCTCCCATGGAGGGGGCTGGGGCAGACACAGTTTGCTGAAAGGAGCAATTTTGAGTGGTTGTGGCATTCTGTGTCCATTTCTGGCTCCACAGCTTTCTTCATTTGTAGGAACAAGTCCTTGTCCTGTTGTTAGTGGCTGATGGAAGTTGTCACCCACCAGGCACCAAGGCAGGAGTGACCCTATACTGTCTTTCTTGTGGAGCTGGGTCTTGGCAGCCAGATCTTGATTCAGGATCTGCCATGCCTCTTCCTGACCACAGCCCCGCTCCTCCATCCTCTGCAGGTGAATGCCCAGGCCCTTACCAGTGCCTTCTCTCCACACACCAAGCCTTGGATTGGTCTGGCAGAAGCTCTGGGGACACTGATGCGAGCCTGGGCTGGGTCCCCCAAAGGGACCATCCAGGTGATAACACAGGGTGAGCTGGGGACCTTGCAGAGGGAGGGGGAGGAGGGGATGAGGGAGTGTGGGATCTGCCCTGCTGGGTGTATTTGCTGCAGGACACAGGGTTAGTGAGAGGCAGTGAGGGTGCCTTGGACCCTGCCCTGAGTATAGCTCCCTTACTACTGGTGGGAGGGTGGTAAAGGGAGGGGTTAAAAAAAGTCGTTGGAAAGATGTACTGAATATTCATAAATCATGTTTATGTAGCATTTTTAAGACCTAGATATTTTGGGTGCAAGAGAAACCTCTACGAGAGAGAGAGTTTCATGCGAGAGGTCGTAGGATGGCTGGAGGGAGGCCCTAATTAAGCAACAGGATGCTGGATTCTGGTTTTTGGCCCTGTCTCTTCCCTGCTGTGTGACTCTCCCTTCTGAGGCTTGGATTCTTCACTTGTAAAGTGAGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAAACCCTAGGCATTGACAATACCAGGGAAGGGCAGAGCCAGGGGGTCCCACTGGCCTGGGTGTCCAAGCGCCGAAGGAAACAAGGCAGGGAGCTGGGCAGCAGTTGCTTCGGTTACTTCTTTCTGCTTTGATTTCCTGAGGCTGGCAAGGCTCTGAGTGCCAGGAAGGGGTAAGAGTAGGGAATTTTCCTGTGTCCCCTGGGAGAATAATAGGTAGGCCAGGATGGCCAAGCCAGGTGCAGGGTTGGGGAGCGGAGTGGAGTTGAGCTGAGTTTTGGAGAGGAGTTTCTCAGGGTGGTTAAAACATCCTGGGTTTCCTGGCTTGGGCCCAGATTATGCCTCTTCTGAGCCCACTGAAGGGCGAGTGGACCTGCCTGGAGCAAGCTGCCTTTGGGGTCCCCAGGGCAGCGAGGAGCCCATAGTCCAGAGCTAGGTGCCAGTGGCTTCCTGCCCCCTCCTGTAGTGCTCAACAAACAGTGACCTCATGGTAGCTTCTCTCTGTCCCCAGGAACATCCCTGAAGAATGCTGGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAAGAGGCTTCCAAGCAGGCGGATGTGAACTTGGTGAACGCTAAGCTGCTGGTGAAAGAGGCTGGCCTCAATGTGCGCCCCTCTCCCCCACGCTGCCTCCCCATCCCTGTCAGCACTAGTCTTCTCCCCCACATTTCCAGAGCCCGTTCTCTGAGCGGAGGCCTAGGTCCCAGCCTTGCATCGGCCTGTCTACCTGTGAGGGGTAGCTGCAGTTTCTTCAACTGCAAAATGAAGATACTGCCTGGCCCCGAGTGTTGCTAATGGCACTGCTTTGTGTATGAGTGCTGTGGGAATGGAGGCAGTAGAAGTGTCCCCATTTCACAGCCAAAGAAAATGACGAGCTAGTGTGTTTGACTCTGCCCGACATGGCTGCCAGGCCATGTTTGACTCTGCCTAACTCCCCTCAGGGCTCCTCATGCCGTAGCACCCGGGTTCTTGATTCACTTGCAAGCTCTAGGAGCCCTGCTGCCTTGCACGGCTTCCCGTTGGCGCCTTCCCCTCTGGTTCCCTGTTTAGATCAAAGTCTGTTTCAAAGCCTGTTGCTCAGCCAGTGGGAGCTGGCAGAAGGGATAGGCAGTAGAGCTGCCATGTCCTCACCCCTCTGCTCCCCTCCACTCCTGCATGCCAGTCATGCCACTGATGCCGTGCAGGA
|
AGCAGCCCCACACAGTCCATGGAAGTCAGCAGGGCTATGACCAGCAGCATGCGAGGAGGTCAGCAGAGACTCTGACCTGTCTGCATCCTCTGTCCTCTATGCTGTGTGGGCTCCTCAGGGCAGAGCACACTTCACTCATCTTGCACCTGGTCGGCCTCTGAGCAGGTTCGTTCCTCCCAGGAGATGCTGCTCGTTTCCCAGGCTGAGGTTTGAGCTCATCACCATTGCCAGCCAATCTGGGCTTCAGGGTTTTACCCTTTCAGCCTTCTCAGAAAGCAGCTGTCTGCCTTCCCCATCGCAGCCTTGCAATTTATTGCCATTACCATTAGGTAGCAGTGACATTCCAGAGCTTTTCCTGAAAGGGACTCCTGAATATAAGCTCTGGCAGAGCGAGGGGGTGGGGGAGGGAGGGGGACCTTGCAGAGAGATGGGGAGGAGGGGGTGAGAGGTGTATGGGCTCTGCCCTGCTGGGTGTATCTGCTGCAGGACACAGAGTTCCATCAAATGGACCACACAGTGTCCCCATCTTAGGAGGTGAAACCTCTTGGTCAAAATAACTACCCTTAGCAAATTGAACTGTTCACCCACATCAGCAAATAGTCTTAGAGTAGCCATTTGGAAAAAGAGACATTTTTGTCACATAAGAAATATATTTTCCTAATTCTTCCCTGCATTTTCCCCAGTTCAATTCTGTTCTAACCTCAGACACAGAATAACATTAGGGTCAGGTTGGTGTCCCAAAGTGCCTGACTCCTCCCTGGAATTCTCCCACCTGTCCACCAGGGAAGACTGAGAATCCTCCTTTTACTTGGGAGCCCTGTGATGGACACCTCCCCGGGCTTGGGCTCTGCAGGCCCACACAGAGGACAGAGAGATGTGCCGAGGTGCCTGCGTTATGGGCCCTCTTAGTTGGACTTTCCTCTGCTGCTGCAGGCCCTCAGCCCCGGCAGTGGCAGCATGGTGCTCCAGATCTCCTCCCAGCAGCTAGCTGCTCCACCCCACCACCCTTCTTGTCTGTGACTCCTTGGAGAGGATCCAGGAGCCATGCAGCAAGAAGCCTGCAGACCTGTCACCTCCCACACTGGAGAGGCTCCCGTGAAGCCCGGCCTCAGCAGTCATTTCCCATACCATGATTCTTTCTCTGTTTAAAAAAAAAAAAATTCTTCCAATGATATCTTTATGAAAACAGAAAGAGAAGCATCTGTGTTTCCTTCTAATTACATCTTGTAGCTGCCTGTTTGATTTGCATCTTTCTAAGATGGTTGACTTTACAAGTTATCTCAATAAAAGTGGCCAGATGCCTAACTCAGAACCAGAGCATTTTGAACCACAAAATGGAATTGAAATTTTGGCCCAGAACAAGCTGGTTCTGTTATCAGGCCCCTGGGTGGGGCAGGGGGCAGCCAGCCAGGTCCTAGACATAACTTTTGGGGGATATGGGGCTTGTGTCCCCTCAGTGTCACAACATGCCTCACAGTGGACTTCGCATGCGTTGATATTTGAAGCACGATCATCAAAACTTTGTGATAATTGATCGTAGTGTTTAGTAACAATGTAAACACTTAAAAAAATTCAAGATAGAAAATAAAAATGAAGGCAAGTTGGGACTGCCAGAGAAGACCCGTCACTCCTCATCCAAGTTATCTGCGACTCCCATATGTTTTGTGTCAAAGACTCACCTTTATTGTGCTGTCCAATCCCTTCCCCAGTGCAGAAACAAGTCTCCCATGGAGGGGGCTGGGGCAGACACAGTTTGCTGAAAGGAGCAATTTTGAGTGGTTGTGGCATTCTGTGTCCATTTCTGGCTCCACAGCTTTCTTCATTTGTAGGAACAAGTCCTTGTCCTGTTGTTAGTGGCTGATGGAAGTTGTCACCCACCAGGCACCAAGGCAGGAGTGACCCTATACTGTCTTTCTTGTGGAGCTGGGTCTTGGCAGCCAGATCTTGATTCAGGATCTGCCATGCCTCTTCCTGACCACAGCCCCGCTCCTCCATCCTCTGCAGGTGAATGCCCAGGCCCTTACCAGTGCCTTCTCTCCACACACCAAGCTTGGATTGGTCTGGCAGAAGCTCTGGGGACACTGATGCGAGCCTGGGCTGGGTCCCCCAAAGGGACCATCCAGGTGATAACACAGGGTGAGCTGGGGACCTTGCAGAGGGAGGGGGAGGAGGGGATGAGGGAGTGTGGGATCTGCCCTGCTGGGTGTATTTGCTGCAGGACACAGGGTTAGTGAGAGGCAGTGAGGGTGCCTTGGACCCTGCCCTGAGTATAGCTCCCTTACTACTGGTGGGAGGGTGGTAAAGGGAGGGGTTAAAAAAAGTCGTTGGAAAGATGTACTGAATATTCATAAATCATGTTTATGTAGCATTTTTAAGACCTAGATATTTTGGGTGCAAGAGAAACCTCTACGAGAGAGAGAGTTTCATGCGAGAGGTCGTAGGATGGCTGGAGGGAGGCCCTAATTAAGCAACAGGATGCTGGATTCTGGTTTTTGGCCCTGTCTCTTCCCTGCTGTGTGACTCTCCCTTCTGAGGCTTGGATTCTTCACTTGTAAAGTGAGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAAACCCTAGGCATTGACAATACCAGGGAAGGGCAGAGCCAGGGGGTCCCACTGGCCTGGGTGTCCAAGCGCCGAAGGAAACAAGGCAGGGAGCTGGGCAGCAGTTGCTTCGGTTACTTCTTTCTGCTTTGATTTCCTGAGGCTGGCAAGGCTCTGAGTGCCAGGAAGGGGTAAGAGTAGGGAATTTTCCTGTGTCCCCTGGGAGAATAATAGGTAGGCCAGGATGGCCAAGCCAGGTGCAGGGTTGGGGAGCGGAGTGGAGTTGAGCTGAGTTTTGGAGAGGAGTTTCTCAGGGTGGTTAAAACATCCTGGGTTTCCTGGCTTGGGCCCAGATTATGCCTCTTCTGAGCCCACTGAAGGGCGAGTGGACCTGCCTGGAGCAAGCTGCCTTTGGGGTCCCCAGGGCAGCGAGGAGCCCATAGTCCAGAGCTAGGTGCCAGTGGCTTCCTGCCCCCTCCTGTAGTGCTCAACAAACAGTGACCTCATGGTAGCTTCTCTCTGTCCCCAGGAACATCCCTGAAGAATGCTGGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAAGAGGCTTCCAAGCAGGCGGATGTGAACTTGGTGAACGCTAAGCTGCTGGTGAAAGAGGCTGGCCTCAATGTGCGCCCCTCTCCCCCACGCTGCCTCCCCATCCCTGTCAGCACTAGTCTTCTCCCCCACATTTCCAGAGCCCGTTCTCTGAGCGGAGGCCTAGGTCCCAGCCTTGCATCGGCCTGTCTACCTGTGAGGGGTAGCTGCAGTTTCTTCAACTGCAAAATGAAGATACTGCCTGGCCCCGAGTGTTGCTAATGGCACTGCTTTGTGTATGAGTGCTGTGGGAATGGAGGCAGTAGAAGTGTCCCCATTTCACAGCCAAAGAAAATGACGAGCTAGTGTGTTTGACTCTGCCCGACATGGCTGCCAGGCCATGTTTGACTCTGCCTAACTCCCCTCAGGGCTCCTCATGCCGTAGCACCCGGGTTCTTGATTCACTTGCAAGCTCTAGGAGCCCTGCTGCCTTGCACGGCTTCCCGTTGGCGCCTTCCCCTCTGGTTCCCTGTTTAGATCAAAGTCTGTTTCAAAGCCTGTTGCTCAGCCAGTGGGAGCTGGCAGAAGGGATAGGCAGTAGAGCTGCCATGTCCTCACCCCTCTGCTCCCCTCCACTCCTGCATGCCAGTCATGCCACTGATGCCGTGCAGGAN
|
pathogenic
| 13,877 |
Does the variant impacting PHGDH (phosphoglycerate dehydrogenase) on chromosome 1, position 119742990, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Neu-Laxova_syndrome_1', 'PHGDH_deficiency']
|
AGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAAACCCTAGGCATTGACAATACCAGGGAAGGGCAGAGCCAGGGGGTCCCACTGGCCTGGGTGTCCAAGCGCCGAAGGAAACAAGGCAGGGAGCTGGGCAGCAGTTGCTTCGGTTACTTCTTTCTGCTTTGATTTCCTGAGGCTGGCAAGGCTCTGAGTGCCAGGAAGGGGTAAGAGTAGGGAATTTTCCTGTGTCCCCTGGGAGAATAATAGGTAGGCCAGGATGGCCAAGCCAGGTGCAGGGTTGGGGAGCGGAGTGGAGTTGAGCTGAGTTTTGGAGAGGAGTTTCTCAGGGTGGTTAAAACATCCTGGGTTTCCTGGCTTGGGCCCAGATTATGCCTCTTCTGAGCCCACTGAAGGGCGAGTGGACCTGCCTGGAGCAAGCTGCCTTTGGGGTCCCCAGGGCAGCGAGGAGCCCATAGTCCAGAGCTAGGTGCCAGTGGCTTCCTGCCCCCTCCTGTAGTGCTCAACAAACAGTGACCTCATGGTAGCTTCTCTCTGTCCCCAGGAACATCCCTGAAGAATGCTGGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAAGAGGCTTCCAAGCAGGCGGATGTGAACTTGGTGAACGCTAAGCTGCTGGTGAAAGAGGCTGGCCTCAATGTGCGCCCCTCTCCCCCACGCTGCCTCCCCATCCCTGTCAGCACTAGTCTTCTCCCCCACATTTCCAGAGCCCGTTCTCTGAGCGGAGGCCTAGGTCCCAGCCTTGCATCGGCCTGTCTACCTGTGAGGGGTAGCTGCAGTTTCTTCAACTGCAAAATGAAGATACTGCCTGGCCCCGAGTGTTGCTAATGGCACTGCTTTGTGTATGAGTGCTGTGGGAATGGAGGCAGTAGAAGTGTCCCCATTTCACAGCCAAAGAAAATGACGAGCTAGTGTGTTTGACTCTGCCCGACATGGCTGCCAGGCCATGTTTGACTCTGCCTAACTCCCCTCAGGGCTCCTCATGCCGTAGCACCCGGGTTCTTGATTCACTTGCAAGCTCTAGGAGCCCTGCTGCCTTGCACGGCTTCCCGTTGGCGCCTTCCCCTCTGGTTCCCTGTTTAGATCAAAGTCTGTTTCAAAGCCTGTTGCTCAGCCAGTGGGAGCTGGCAGAAGGGATAGGCAGTAGAGCTGCCATGTCCTCACCCCTCTGCTCCCCTCCACTCCTGCATGCCAGTCATGCCACTGATGCCGTGCAGGAGGCTGTGTCAGAGCAGGAGGGGCCAGAGTGGAGTCTCCTCACAGCCCTGCCTCCCTGCTTTTCTTTCCTCCCTGTTTTCCTCCAAGCCTTCGCCTGTGCCTGGCAGATCTCTTTGCCCTCCCTTTAAGGAGATCATTGGCTGTTCCAGGAAGCTGATGCCGAAGGGCACACAGCTTGGCCCATTTGCCCTCTCCCTTCTGGTCCTGAATTACTGAGCACATTATCCAGGCTGGAGCCCTACATCCTACCAATGGGTGATTTGGCCAAGAGAGGAGGGTGGACGTGGTGCAGCCAGGAGGTGTAACAGTCACCTTGCCTTCTCCACACAGGTCACCACCTCCCACAGCCCTGCTGCACCAGGGGAGCAAGGCTTCGGGGAATGCCTCCTGGCCGTGGCCCTGGCAGGCGCCCCTTACCAGGCTGTGGGCTTGGTCCAAGGCACTACGCCTGTACTGCAGGGGCTCAATGGAGCTGTCTTCAGGCCAGAAGTGCCTCTCCGCAGGGACCTGCCCCTGCTCCTATTCCGGACTCAGACCTCTGACCCTGCAATGCTGCCTACCATGATTGGTGAGGAGGGCCCTGTAGGGCTGGCTGGTGTCCTTGAGGCTGGGGTGGGGTCTGCCCTGGAATTGAACTCTACCCACCTTCCTTTAGCCCCTCTTCATGTCCCAGGGTGTCTCTGGATCTGCACCATACAGAGGGTCTGATGCCAGTTTTCAGAACCTTCAGGGAGTGGATACTCAGTTCAAAGAGGGAAAGTGCCTTATCCAGGGTCACAGAGCAGCATGGCAGGGGTGGGGCCATAGCCTCTATTCCTGCCCAGCTGTGGATCCTCAGCTTGCCATGTTAGGTACACTGGACCAGCTTGTGGAGCCATAGCCCAGGAGCTCAGGGACATTGAGTGCAGGTTTCTTACTCCTACCTGCTGGCCCTGTGGCTGTCCCTGGTGGCCAGCCCAGCTGCAGCAAAACCTACAAAGCCTCCAGCCATGGTAGGCGTCTTGGACCTGCCCCAGTCAGCTGGGGCTTGGGCTGCTAGGGGTTTTGGCACACGTCCATGTTTGGCGGAGGGTGTGCCTTCAAACCCTGAAGGGCCTAATTTCACCATTCTTTCTGGCTGCCCAAGGGAACTTCCCTGCTTTTCTCCCTTGCTGTTGGCTGGATAAAACTGGCAATCAGAAAGTCAAGAGCTACAGCTGATGGTCATGGTGTTCCCAGAGAGTCAGGAATATCCATGGAAGCTGAGCAGATGCCCTGTTGCTCTCCCATCTCAGCTCTTTGATTCTGAGACCATCATCCGCTCATTGCACCTTTGATCACAAAAGCTTTGAACTTCTGATTCTGCTCCCAATCCCTCGCTCCTTTTTCCCCTATCCCCTGTGCCAACCAGGAGTTTCTTCTATTTCCAGGCCTCCTGGCAGAGGCAGGCGTGCGGCTGCTGTCCTACCAGACTTCACTGGTGTCAGATGGGGAGACCTGGCACGTCATGGGCATCTCCTCCTTGCTGCCCAGCCTGGAAGCGTGGAAGCAGCATGTGACTGAAGCCTTCCAGTTCCACTTCTAACCTTGGAGCTCACTGGTCCCTGCCTCTGGGGCTTTTCTGAAGAAACCCACCCACTGTGATCAATAGGGAGAGAAAATCCACATTCTTGGGCTGAACGCGGGCCTCTGACACTGCTTACACTGCACTCTGACCCTGTAGTACAGCAATAACCGTCTAATAAAGAGCCTACCCCCAACTCCTTCTGCACTTTTGTGTGGTCATTATCCTAAAGCGCCACCAGAGGGCGTCCAAAGGCAGACGTAGGGTTTGGTTTAGACTGCGGGAGCGGAGCGGGTGTGGGGGAAGATGGGGATGAGCAAATGGCTTGGTTGAGTTCTTTGAAGGTGATCCCTCTCTTGTCTGCCGAAGGTTACTCAGAGGCACTTTTACAGGAGCAAAGCTCAATGTATTTCACAGTGCTACGGTATTTCAGACCCCTTCCATCTGGGAATATACATGCACGTTAATAAGTAAGATTCAACACACAAGCCCAGCATTATGTACCAGGCACTGGGCTAGGTGCTTTACTTTAAGAGGAGAATTCAAACCTGACCCTTTTTCCATAGAAGTCTGGTGGGAGGGACAGAGCATGCAGAGGTGACTGGAAGCAGTGAGTGATGCTACAACAGAGGTGTATAGGAAATTCTCTAGAGTCCAAAGGAGGAAGTAATTTGAGCTGAGGATATTGGTGTCTCAGGAGATGTTTAGAAGGATTTCATAAGGGAAAGAAAGTGTAAAATTATGGGGGTATGAGACTATTTGGCAAGTTCACAAAGCAAGGTCAGTGTGGGTTGGTGAACATGTCACTTTTTTTTGAAAGATGATTTTCATGCAAAATACAGCTGAACGGCACTCTACCCAAAAGATTCACTTCAGGGAATTTTTTTCCCCATTAATAAGGGATGATCCATTCTTACTGTGTGCCCAGTAGTGTCTGTTTCTGAGATTCCTGGCCTGGCTAAGAAGGCTTGACACAGGGCAGCTGCTTGGCACTGGCAGGGGCGAGTCCAGCACTCTG
|
AGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAGTGACCAAGGAGGGCTCCAGTTTCCTTAACCCTGTAGACGTGTATCTTTCCCCATGGACTCTTGGGTGTCTCACAGTTGGGCAGAGATTGCAGGGAGAGGGCAGCTAAACCCTAGGCATTGACAATACCAGGGAAGGGCAGAGCCAGGGGGTCCCACTGGCCTGGGTGTCCAAGCGCCGAAGGAAACAAGGCAGGGAGCTGGGCAGCAGTTGCTTCGGTTACTTCTTTCTGCTTTGATTTCCTGAGGCTGGCAAGGCTCTGAGTGCCAGGAAGGGGTAAGAGTAGGGAATTTTCCTGTGTCCCCTGGGAGAATAATAGGTAGGCCAGGATGGCCAAGCCAGGTGCAGGGTTGGGGAGCGGAGTGGAGTTGAGCTGAGTTTTGGAGAGGAGTTTCTCAGGGTGGTTAAAACATCCTGGGTTTCCTGGCTTGGGCCCAGATTATGCCTCTTCTGAGCCCACTGAAGGGCGAGTGGACCTGCCTGGAGCAAGCTGCCTTTGGGGTCCCCAGGGCAGCGAGGAGCCCATAGTCCAGAGCTAGGTGCCAGTGGCTTCCTGCCCCCTCCTGTAGTGCTCAACAAACAGTGACCTCATGGTAGCTTCTCTCTGTCCCCAGGAACATCCCTGAAGAATGCTGGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAAGAGGCTTCCAAGCAGGCGGATGTGAACTTGGTGAACGCTAAGCTGCTGGTGAAAGAGGCTGGCCTCAATGTGCGCCCCTCTCCCCCACGCTGCCTCCCCATCCCTGTCAGCACTAGTCTTCTCCCCCACATTTCCAGAGCCCGTTCTCTGAGCGGAGGCCTAGGTCCCAGCCTTGCATCGGCCTGTCTACCTGTGAGGGGTAGCTGCAGTTTCTTCAACTGCAAAATGAAGATACTGCCTGGCCCCGAGTGTTGCTAATGGCACTGCTTTGTGTATGAGTGCTGTGGGAATGGAGGCAGTAGAAGTGTCCCCATTTCACAGCCAAAGAAAATGACGAGCTAGTGTGTTTGACTCTGCCCGACATGGCTGCCAGGCCATGTTTGACTCTGCCTAACTCCCCTCAGGGCTCCTCATGCCGTAGCACCCGGGTTCTTGATTCACTTGCAAGCTCTAGGAGCCCTGCTGCCTTGCACGGCTTCCCGTTGGCGCCTTCCCCTCTGGTTCCCTGTTTAGATCAAAGTCTGTTTCAAAGCCTGTTGCTCAGCCAGTGGGAGCTGGCAGAAGGGATAGGCAGTAGAGCTGCCATGTCCTCACCCCTCTGCTCCCCTCCACTCCTGCATGCCAGTCATGCCACTGATGCCGTGCAGGAGGCTGTGTCAGAGCAGGAGGGGCCAGAGTGGAGTCTCCTCACAGCCCTGCCTCCCTGCTTTTCTTTCCTCCCTGTTTTCCTCCAAGCCTTCGCCTGTGCCTGGCAGATCTCTTTGCCCTCCCTTTAAGGAGATCATTGGCTGTTCCAGGAAGCTGATGCCGAAGGGCACACAGCTTGGCCCATTTGCCCTCTCCCTTCTGGTCCTGAATTACTGAGCACATTATCCAGGCTGGAGCCCTACATCCTACCAATGGGTGATTTGGCCAAGAGAGGAGGGTGGACGTGGTGCAGCCAGGAGGTGTAACAGTCACCTTGCCTTCTCCACACAGGTCACCACCTCCCACAGCCCTGCTGCACCAGGGGAGCAAGGCTTCGGGGAATGCCTCCTGGCCGTGGCCCTGGCAGGCGCCCCTTACCAGGCTGTGGGCTTGGTCCAAGGCACTACGCCTGTACTGCAGGGGCTCAATGGAGCTGTCTTCAGGCCAGAAGTGCCTCTCCGCAGGGACCTGCCCCGCTCCTATTCCGGACTCAGACCTCTGACCCTGCAATGCTGCCTACCATGATTGGTGAGGAGGGCCCTGTAGGGCTGGCTGGTGTCCTTGAGGCTGGGGTGGGGTCTGCCCTGGAATTGAACTCTACCCACCTTCCTTTAGCCCCTCTTCATGTCCCAGGGTGTCTCTGGATCTGCACCATACAGAGGGTCTGATGCCAGTTTTCAGAACCTTCAGGGAGTGGATACTCAGTTCAAAGAGGGAAAGTGCCTTATCCAGGGTCACAGAGCAGCATGGCAGGGGTGGGGCCATAGCCTCTATTCCTGCCCAGCTGTGGATCCTCAGCTTGCCATGTTAGGTACACTGGACCAGCTTGTGGAGCCATAGCCCAGGAGCTCAGGGACATTGAGTGCAGGTTTCTTACTCCTACCTGCTGGCCCTGTGGCTGTCCCTGGTGGCCAGCCCAGCTGCAGCAAAACCTACAAAGCCTCCAGCCATGGTAGGCGTCTTGGACCTGCCCCAGTCAGCTGGGGCTTGGGCTGCTAGGGGTTTTGGCACACGTCCATGTTTGGCGGAGGGTGTGCCTTCAAACCCTGAAGGGCCTAATTTCACCATTCTTTCTGGCTGCCCAAGGGAACTTCCCTGCTTTTCTCCCTTGCTGTTGGCTGGATAAAACTGGCAATCAGAAAGTCAAGAGCTACAGCTGATGGTCATGGTGTTCCCAGAGAGTCAGGAATATCCATGGAAGCTGAGCAGATGCCCTGTTGCTCTCCCATCTCAGCTCTTTGATTCTGAGACCATCATCCGCTCATTGCACCTTTGATCACAAAAGCTTTGAACTTCTGATTCTGCTCCCAATCCCTCGCTCCTTTTTCCCCTATCCCCTGTGCCAACCAGGAGTTTCTTCTATTTCCAGGCCTCCTGGCAGAGGCAGGCGTGCGGCTGCTGTCCTACCAGACTTCACTGGTGTCAGATGGGGAGACCTGGCACGTCATGGGCATCTCCTCCTTGCTGCCCAGCCTGGAAGCGTGGAAGCAGCATGTGACTGAAGCCTTCCAGTTCCACTTCTAACCTTGGAGCTCACTGGTCCCTGCCTCTGGGGCTTTTCTGAAGAAACCCACCCACTGTGATCAATAGGGAGAGAAAATCCACATTCTTGGGCTGAACGCGGGCCTCTGACACTGCTTACACTGCACTCTGACCCTGTAGTACAGCAATAACCGTCTAATAAAGAGCCTACCCCCAACTCCTTCTGCACTTTTGTGTGGTCATTATCCTAAAGCGCCACCAGAGGGCGTCCAAAGGCAGACGTAGGGTTTGGTTTAGACTGCGGGAGCGGAGCGGGTGTGGGGGAAGATGGGGATGAGCAAATGGCTTGGTTGAGTTCTTTGAAGGTGATCCCTCTCTTGTCTGCCGAAGGTTACTCAGAGGCACTTTTACAGGAGCAAAGCTCAATGTATTTCACAGTGCTACGGTATTTCAGACCCCTTCCATCTGGGAATATACATGCACGTTAATAAGTAAGATTCAACACACAAGCCCAGCATTATGTACCAGGCACTGGGCTAGGTGCTTTACTTTAAGAGGAGAATTCAAACCTGACCCTTTTTCCATAGAAGTCTGGTGGGAGGGACAGAGCATGCAGAGGTGACTGGAAGCAGTGAGTGATGCTACAACAGAGGTGTATAGGAAATTCTCTAGAGTCCAAAGGAGGAAGTAATTTGAGCTGAGGATATTGGTGTCTCAGGAGATGTTTAGAAGGATTTCATAAGGGAAAGAAAGTGTAAAATTATGGGGGTATGAGACTATTTGGCAAGTTCACAAAGCAAGGTCAGTGTGGGTTGGTGAACATGTCACTTTTTTTTGAAAGATGATTTTCATGCAAAATACAGCTGAACGGCACTCTACCCAAAAGATTCACTTCAGGGAATTTTTTTCCCCATTAATAAGGGATGATCCATTCTTACTGTGTGCCCAGTAGTGTCTGTTTCTGAGATTCCTGGCCTGGCTAAGAAGGCTTGACACAGGGCAGCTGCTTGGCACTGGCAGGGGCGAGTCCAGCACTCTGN
|
pathogenic
| 13,887 |
Gene HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) variant at chromosome position 119752574 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency']
|
TTTATGGTACAAATCCCCACTTCTGATTAGTTTGAAAGCTGTGAACCCTCCCTGGCCTGGTTAATGTTCCCAAACTACAAGATTCCTATTCTGAATACTTGCTTTTCCTTTTAAAAATTCCACAGATAATTCTCCCATTTCTCCTGTCACCCCAATCCTCTTCCATTAAACTTTCTTCTCCCTGCACCTGTCCCCACCTTCTCTCTCTGTGTTGTTACTCAGAGGAAGACATTAGGGTTTTATGCCACCAACTCTGCAAACTCTCACTCACCACCTTTAGACGGGACGCCGGGCATACTTTCGGCGATGCTGCTCGTCCACTCGCTCCAGGTACCAAGTACCTGGGAAAAGGCTGTTTGTGTCACCAGGTGGGGAGAAATTCACTGTGGAATGAGGAGAAGAGGCAGTACTCACAAAGAGTTATATGAGTTTTTGGAAGAGAAAATAGTAATGAAGATGTCTGCCCCTTCACAGTGAAGCTCTCTTGGCTGGGCTGTAAGGGGCTGCAAGGTCACCCTTAGTCCACCAAATAGAACACTGGACCCACAGAACAAGAGGGGCAGCCATCTTGAATCTAGCACTTAAGGCCTTAATAAAAGTCTATTAAGACTTTTATTATAAGAGTACAACATTTTCCTACAGTAAACATAGCCTTCCTCCATTGAAATCTTCATCCCATCCTTTTGCCAATAGTTCCTACTTTGAGACGTAATTCCCAGCTTCCTGTTTCCTAACAGACACGTCCTTCTAAACTCTAAATTTTCTGGTTCTGATTCATTGCAGTATTTCAGTGCTTTGTCCGTTAACGTTTGTCTCAGAGGTCCTATTTTTCTTTTCTTCTTTTTTTTTTTTTTGTTTTGAGACAGAGTCTTTCTGTGTCACCCAGGCTAGAGTGTGGTGGTGTGATCTCAGTTCACTGCATCCTCTGCCTCCTGGGTTCAAGTAATTCTCCTCAGCCTCCTGAGTAGCTGAGATTAGAGGTGTGTGCCACCACACTCGGCTAATTTTTACATAATTTTATTTTTTTTATTATATTCATATTTTTATAATTTTTATATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTCTGCCTCCCAAAGGACTAGCATTACAGGCGTGAGCCACTGTGCCCTGCTCCATTTTTATTTTCATTGTCTTTCTTTGCTATAACATATCCACTGGTCCAGAAGAGATCAATGACCACTAGGTCTAGGTTTTCTGGAACATTTCCAATTCCGTATATTCTGTCTCCTTTTGAGACCATGCTGCAAAACAACATGCATCCCAAGTTTTGCTTGAGAATATATATAAAACCTGTAGAAATCATGGTAAAACTGTGTATTACTATGGTTTTAAAACCACCAACTAATCACTCTAGTATTACCTTTGGGTTTCATTTTCCTTTCATTTGTTGCTTTTGGAGCAATATTTTGTTTTTTGTTTTTATGTTTGGTGGAGAAAGAGGGCAATTTGGAGGGGACAGTAATATTTGTCGATAACATATTTATATAGAGTAATTCATTTAATTTGTTTGGAAATCCTGCAAAATCGGTATGATTTTAGAAATAAGACAACTGAGAAAAGTTCAACCATTTTTCCAAAGATAAACAGCTAGTGAGTGGCACAGCTCAGGGTTAGATTTGGATATCTAGCTCTAAAGTCTGTACTCTTTCAACTGTTGCAGATGGTATTTTCAAAGACTATACTTCTGGCTTCCATGGGACTACACATTCTGGGTGTTTAGCTATATTCTATACTGGGAAGCTGCATCCTGCCTCCCTCTTCCCAACTCTATCTTCTGTTTCCCCACCCACTTCTTGCCCCTTTGGACAACAGATCTTCTAGCAAATCTTCTCCCAACCATATCTCGTAAAAGTCTTGACCCTGGACTACTAAATTCTAGATTTCCAAAGAAATCCCTGGCTCCCAGCTACTGGAATGGGGTCTCTCTTCCTCTCTTCCTGACTTTTTTCTTACCCTTATGGTAGAATTGCTCTCTTTGGTTCATTATTTCTGTGAACTCCTCAGGAGACACACACTTTCGGGAGGCTAGGCGTTTTGGCAGGTCTGATGTGCTGGACACCAACTTGTCCAGGGGAGAGCCTGGGAAGCAAAAGCAAGATTGTTACACCTTTTTCATTGTCATTATCACTATTGCCAATCACGAGTTCAACAGAGAGCCAGGTTCTGTGGGAGGTTACACCCTGGAGGAACGTGTGGTGTGTGTGGCTTAGAATACCAAGAAATGATAAGCAAGCATACTTGTTAGCAAAACATGCAGGCAGACACACTGATTTGGTCAAGGTGTATGCCACATAGTACTTAAATGCATGTCCTTAATCACATCAATCACAAAATAATCAATAAATTCTTATTAGGTATCTCAAATCCATCAACTTCTCTTTAATCAGTTGCAATCAAACCACCATTACCTCTTGCCTGAACTAGTTACTGGAACAATCTAAGTGGTTTCCCCATATCCAGCTTTGTTCCTTTTCAATCTAGTCTCTAAGTAGTAGCCAAATAAGTGCTTTAAACACATAAATTAAACAAACTTACTCCATGCTTAAATCCCTTCAGTGATTTACTTTGCTATTAATAATAACGTAACTCTGTCAAGATGGCAGCCTCAGTAATGGTGGGGAAGAAGATGGTTATTCTACCAGATGAATCTTGTCAGGAAGGCCTACTAGAAAGATGACACTCACCTGGAGCAGCATCCTGGGATACTCGAAATGAAAAGAAACTTGCTGCTAAACCAGAGCCATAAGAGAAGGCACCAATCCTGGAGCCAGCCAGTTCTTGGGCAGAGTGGCTGTGGGGAAAGAAATCAAATAAAACACACACACACACACACACACACACACACACACACATATATGTATATATATATTATATTCTGCACTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGCATTCTGAAGGTGTCTCCAGATGGAGATCAGACCACTGGACTCACCCTTCAGGCTCCCATGTTGATTGGTAATGGTTCAGCAGTCATAACTTTTTGATCATCCCCTGTGAGTAATAATTTGATCAAGTTCACCCATAAGCACTTTTTCCTGCCCGTTTTTTTTTTCTTTTTTTGGCAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCCCGGAATGCAGTGGCGTGATCATGGCTCACTGCAGCCTTTACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGGATTCAGGATCCTGAGTAGCTGGGACTACAGGTGCAAGCTGCCACACCCAGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAAGCTATAGTGCAGTAGCTCGATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTCTCGAGTTGCTGGGACTACAGGCACGTACCACCATGCCCAGCTGATGTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTTCCCACCTTGGCCTCCCAAAGTGTTGGTATTACAGGCATGAGCCACCGTGAACATCCATGGCTAATTGTTTAAAAAAATTTTGTAGAGATGGGGCCTCCCTCTGTTCCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGAGATCCTCCTGCCTGAGCCTTCCAAAGTGCTAGGATTATAGGCATGAGCCACTTCATGAGCCCTTTCTTATGTTAGATGCAGTACTTCCTTATAAAACCCACAAAACAGAAAATGAATAGAAATAACATCCAACATTTGAGCACCTGCTAAGCACTGCTATTTTAATTGTTTTAGATACTTAAT
|
TTTATGGTACAAATCCCCACTTCTGATTAGTTTGAAAGCTGTGAACCCTCCCTGGCCTGGTTAATGTTCCCAAACTACAAGATTCCTATTCTGAATACTTGCTTTTCCTTTTAAAAATTCCACAGATAATTCTCCCATTTCTCCTGTCACCCCAATCCTCTTCCATTAAACTTTCTTCTCCCTGCACCTGTCCCCACCTTCTCTCTCTGTGTTGTTACTCAGAGGAAGACATTAGGGTTTTATGCCACCAACTCTGCAAACTCTCACTCACCACCTTTAGACGGGACGCCGGGCATACTTTCGGCGATGCTGCTCGTCCACTCGCTCCAGGTACCAAGTACCTGGGAAAAGGCTGTTTGTGTCACCAGGTGGGGAGAAATTCACTGTGGAATGAGGAGAAGAGGCAGTACTCACAAAGAGTTATATGAGTTTTTGGAAGAGAAAATAGTAATGAAGATGTCTGCCCCTTCACAGTGAAGCTCTCTTGGCTGGGCTGTAAGGGGCTGCAAGGTCACCCTTAGTCCACCAAATAGAACACTGGACCCACAGAACAAGAGGGGCAGCCATCTTGAATCTAGCACTTAAGGCCTTAATAAAAGTCTATTAAGACTTTTATTATAAGAGTACAACATTTTCCTACAGTAAACATAGCCTTCCTCCATTGAAATCTTCATCCCATCCTTTTGCCAATAGTTCCTACTTTGAGACGTAATTCCCAGCTTCCTGTTTCCTAACAGACACGTCCTTCTAAACTCTAAATTTTCTGGTTCTGATTCATTGCAGTATTTCAGTGCTTTGTCCGTTAACGTTTGTCTCAGAGGTCCTATTTTTCTTTTCTTCTTTTTTTTTTTTTTGTTTTGAGACAGAGTCTTTCTGTGTCACCCAGGCTAGAGTGTGGTGGTGTGATCTCAGTTCACTGCATCCTCTGCCTCCTGGGTTCAAGTAATTCTCCTCAGCCTCCTGAGTAGCTGAGATTAGAGGTGTGTGCCACCACACTCGGCTAATTTTTACATAATTTTATTTTTTTTATTATATTCATATTTTTATAATTTTTATATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTCTGCCTCCCAAAGGACTAGCATTACAGGCGTGAGCCACTGTGCCCTGCTCCATTTTTATTTTCATTGTCTTTCTTTGCTATAACATATCCACTGGTCCAGAAGAGATCAATGACCACTAGGTCTAGGTTTTCTGGAACATTTCCAATTCCGTATATTCTGTCTCCTTTTGAGACCATGCTGCAAAACAACATGCATCCCAAGTTTTGCTTGAGAATATATATAAAACCTGTAGAAATCATGGTAAAACTGTGTATTACTATGGTTTTAAAACCACCAACTAATCACTCTAGTATTACCTTTGGGTTTCATTTTCCTTTCATTTGTTGCTTTTGGAGCAATATTTTGTTTTTTGTTTTTATGTTTGGTGGAGAAAGAGGGCAATTTGGAGGGGACAGTAATATTTGTCGATAACATATTTATATAGAGTAATTCATTTAATTTGTTTGGAAATCCTGCAAAATCGGTATGATTTTAGAAATAAGACAACTGAGAAAAGTTCAACCATTTTTCCAAAGATAAACAGCTAGTGAGTGGCACAGCTCAGGGTTAGATTTGGATATCTAGCTCTAAAGTCTGTACTCTTTCAACTGTTGCAGATGGTATTTTCAAAGACTATACTTCTGGCTTCCATGGGACTACACATTCTGGGTGTTTAGCTATATTCTATACTGGGAAGCTGCATCCTGCCTCCCTCTTCCCAACTCTATCTTCTGTTTCCCCACCCACTTCTTGCCCCTTTGGACAACAGATCTTCTAGCAAATCTTCTCCCAACCATATCTCGTAAAAGTCTTGACCCTGGACTACTAAATTCTAGATTTCCAAAGAAATCCCTGGCTCCCAGCTACTGGAATGGGGTCTCTCTTCCTCTCTTCCTGACTTTTTTCTTACCCTTATGGTAGAATTGCTCTCTTTGGTCATTATTTCTGTGAACTCCTCAGGAGACACACACTTTCGGGAGGCTAGGCGTTTTGGCAGGTCTGATGTGCTGGACACCAACTTGTCCAGGGGAGAGCCTGGGAAGCAAAAGCAAGATTGTTACACCTTTTTCATTGTCATTATCACTATTGCCAATCACGAGTTCAACAGAGAGCCAGGTTCTGTGGGAGGTTACACCCTGGAGGAACGTGTGGTGTGTGTGGCTTAGAATACCAAGAAATGATAAGCAAGCATACTTGTTAGCAAAACATGCAGGCAGACACACTGATTTGGTCAAGGTGTATGCCACATAGTACTTAAATGCATGTCCTTAATCACATCAATCACAAAATAATCAATAAATTCTTATTAGGTATCTCAAATCCATCAACTTCTCTTTAATCAGTTGCAATCAAACCACCATTACCTCTTGCCTGAACTAGTTACTGGAACAATCTAAGTGGTTTCCCCATATCCAGCTTTGTTCCTTTTCAATCTAGTCTCTAAGTAGTAGCCAAATAAGTGCTTTAAACACATAAATTAAACAAACTTACTCCATGCTTAAATCCCTTCAGTGATTTACTTTGCTATTAATAATAACGTAACTCTGTCAAGATGGCAGCCTCAGTAATGGTGGGGAAGAAGATGGTTATTCTACCAGATGAATCTTGTCAGGAAGGCCTACTAGAAAGATGACACTCACCTGGAGCAGCATCCTGGGATACTCGAAATGAAAAGAAACTTGCTGCTAAACCAGAGCCATAAGAGAAGGCACCAATCCTGGAGCCAGCCAGTTCTTGGGCAGAGTGGCTGTGGGGAAAGAAATCAAATAAAACACACACACACACACACACACACACACACACACACATATATGTATATATATATTATATTCTGCACTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGCATTCTGAAGGTGTCTCCAGATGGAGATCAGACCACTGGACTCACCCTTCAGGCTCCCATGTTGATTGGTAATGGTTCAGCAGTCATAACTTTTTGATCATCCCCTGTGAGTAATAATTTGATCAAGTTCACCCATAAGCACTTTTTCCTGCCCGTTTTTTTTTTCTTTTTTTGGCAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCCCGGAATGCAGTGGCGTGATCATGGCTCACTGCAGCCTTTACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGGATTCAGGATCCTGAGTAGCTGGGACTACAGGTGCAAGCTGCCACACCCAGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAAGCTATAGTGCAGTAGCTCGATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTCTCGAGTTGCTGGGACTACAGGCACGTACCACCATGCCCAGCTGATGTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTTCCCACCTTGGCCTCCCAAAGTGTTGGTATTACAGGCATGAGCCACCGTGAACATCCATGGCTAATTGTTTAAAAAAATTTTGTAGAGATGGGGCCTCCCTCTGTTCCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGAGATCCTCCTGCCTGAGCCTTCCAAAGTGCTAGGATTATAGGCATGAGCCACTTCATGAGCCCTTTCTTATGTTAGATGCAGTACTTCCTTATAAAACCCACAAAACAGAAAATGAATAGAAATAACATCCAACATTTGAGCACCTGCTAAGCACTGCTATTTTAATTGTTTTAGATACTTAATN
|
pathogenic
| 13,910 |
Gene HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) variant at chromosome 1, position 119764549—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency']
|
ATACTCTTCTCTTTCCTCATCCCCTCCACTTTTCTCTGGAGTGATTCAGAACTCCCTGAGTCTCAGAGCCACTCCCTCCCACCTGAGGGTCCCCAGATGAATGACTGGCTAGGTCAGAAGCAGAGTTCTCATTCACACTGGCATCCTCTGGTCCTGGTGGTTACTGTCACCTGCAGGGTATGTAGTCCGAGTGTCCAGGCTCAAGCTTAGCTGTTTTTGTTTTAAATACAAACTAAAGATTCACATTTCAATAACTTGTTTTTTAAATTTTTACTTTTATACCTAGATACCACATTTTTTTAAAAGATGCATTTGCAACCCCATCTGTGGAATACCCAGCCCCTCAGAAGAATCTACGCATTTGAAATGGCATGCTTAAGGCTGACAATGCTCTCAAGAATAGGCTCTTTGATTTTTGGTTAAAGGCTGGTGAATGCCCCTTATTTTTCATTTCTACTCCTCAACTAAATAATTGGTTGGACATATCAGTGGTGGTAATGGTGGTAGGGGTTACTAGAGAGGTAGTAATACAAGTATCAAGTAGGAGAGGCACTTTAAGAACAGACTTGATGATGTAGACTGGACCATCCCATGTCAGTGGAATTGTTAATGATGGAGCCAGGTAGGGCAGTTGGAAAAGCCTGGAATGAACTTTTGTAATTGCACGGTCTTGCTGCATGTACAGAGATAAACTGTTACACTCCTCTTGACCTCTTTTTTCTAAAGCAAAAGATATTGAATTAGATGATCTCTGAGGACTCTGCCAATATTAAGGCTTTTTGATTAATTTTATAATTAATGCTTATCATGGTTTCTAAGGTTTTTAATCCTAGTTTCAAACTTAGTAAATATAGAGTGTCTTAACTACTGCCAACATACTGTTTTTTCACATCTTTATGAAAATTTCACATTTCTATGAATTATTTTATTCAGTCCTCTTATAAGTTAAGCAAGGCAGATAGGCAAATAACCCTGAGGCTCAAAGAGGTTCAGGAATTTATCAATGATTATTGATAGAGCTATGGCTTCAAGCTCTCATACTGTACTGTTTCCCTTGAATCATTTCTTGCTGTAACAACAGGGGTTAGTCCTCAAATATAGCACTGGGAGAAGATATAAGTAAGATACAAGGTAATGTTAATATGTTAAGCAAAAAGCAATATGCAAGGAGCCACCTAAGGGAGAAAGAGTAGAAATACTCACAGTCTATCTTGTGGTTTTCTGGGCCTGTTTCTATGAAGGTGTTTTTTTCCCGAACATCTAAACTTGCATACATCTTTCAACATCACCAATCTCTCAGAGACTTAGGACATGTTTAAGAGAAACAGGTACGGTAAAATAGGAAATATGTCAGATGTGGTTTGGCATTTTTGCCTCTGCCACTCACTATGTGTAAGCTATCAGATCTTCCATGTTCTCTTCTATAAATCTGGTATAATACACACTTCCTAGGCTGTTGTAAGAATTAAATGAATGGCTATGTGAACATGCTACCTAACTGTAAAGCTATATAAGTCTAAGTGGTTATTGTGGGATGATAGCAGCAGCTGTGTGAATATATTGTCCTTCCTTCACTAGATGAAGCCACCTGGGGAACTGAAAAGCAAAACTGGTAATATTCAGCCTCCAATTCCAGCACCTTTCTTACATAAGGTTCGTGGCCGTACATACCATCCCAGGAACTGGACTCCATCCAGTTGGCAGCATTGAAGAGGGAGGCAGTACCACCGTAGCAGGCATTGGTGGTATCTATGCCCTCAATATCAGTATTGCCTGAATCCTGGAAGAGTTCCATGAGCACTGTTTTGACAGCTTTGGACTTGTCAATGATGGTCTCAGTGCCTACTTCCAGCCTGCCCACAGAGTCCCATGGGAGCTGTATGCGCTCCATCAGCCGTTGCACCACCGTCAGGCACAGGGAGTTGATGTCCTCTTGGACTGAGCAGAAGCCCATACGGGTCTGGCCCAAGCCCACTGTATACTTTCCTGCTTCCACATTGTTATACTTCTCCAGGTCAGTTTGGTCCACATATTGGGCTGGGAAGTAGACCTCCAGGGCCAGGATGCCCACGTCCTTTGGCCAAGTATCTGTTTTGGCCAGGGGGACAGCAGAGGCTGTAGAAAACCTGTGATGGAGATAACAGTCAAACTCCCACTAATGGTCTGTAGACAATTTCCTCAAAAGACAGTAACATAGCAATCATTTAATTAATTTTCTATATTTTGAAGCTATGTTATCAGATGACTACAAATTTAGTATTGTTATTATCTTTTCATTGAATTGACCCTTCTATACTTATTAAATATCCCTTTTCATCTTTGTGATATTCTTGGCATAAAGTTTCCTTTCCTGACGTCGATATAGCTACACTAGCTTTTTGCTTACTGTTTCCATGGTACATCTTTTTCTGTCCCTTTTTACTTTCAACTTCTTAACGTCTTTATCTTTAACATACATCTCTTGTGATCGGTATATATATTTTAGTCCTTTAAAAAAATTTTAATAAGTCTAACAATAGTGGTGTTTTAATTTGAGTATTTCATCCATTTATATTTGTTGTAATTACTAATATAGTTGGAACTAAATCTTTTTTTTTCTCTTTTTTGAGACGGAGTCTCACTCTGTCACCCGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGAACTAAGTCTATTTTTTTATTTGTTTCTATTTGTCTCATTTGTTCTTTGTTCTTTTATTCCTCCTTTCCCATATCCTTTTAGAGTAAGCAAATATTTATTATTCATTTTATACCCTCTTTTCCTTTTACTGGTGACCTTAAAGATTATAACATGCATAATTGGCTTGTTGTAATCTTACTTAAATTAATACTTATCTTACTTTTGGAACACTGCAAAAACTTTAGGTTGACTTTATTTACTCTCTGCATCCTTTTGAACCATTATTGTCATATACTTTACTTCTACATGTTATAAGCCCTTATAGGGCATAATTATACAATCTTTACTCATTTTAAAAGTGTACCTCTAATTACATGTCTTTCTCCTTTCTTTTTTCTACACAAGAACATACCCACTGTTTTCCTACTTTTAAGTAAGTTTTCTGCTAGCTGATTTTTCTGATAGGGCCTTCCAATGTTTATTGAGCACACCCAACACAGTTCTAGTCCAAATACACAGCAGTGAATAAGACATGCATTGTGCCCATAAAGAGAGCACAGCCCAGTGAAAGAAGCAGACATTTTACAGCTAAATATGCAGGGAACACAGACAGCAGAAAGAGCAATTCTAAACGAGAGCAGAGGAAAAAAGGAAGGGGAAGGAGTCAGCAGAAGAAGGGAGAGATGATCTATTTCTTTTCTGGACCAATTCACTTCTCTTTAACCCAGATTCTTAATATCCCTGGCGAAAATCTGTGTTCCCTTTTGTATGGGAGCATACTGGAGGTGAACTTGGTGATCTCTGTACTGCTCCCATACAAAAGTACTTTATACCTTCTGTTCACTTTAGCAACATTCTTCATTTTATAGTTAGTGAAACCAAGGCACACACTGGTAAAGTGATGCACTCAGGGTAACTTCATAGTTTCTCACGTGTTAGAAATACTCTGTCCCTTCACTGCCCTGGGTGCCAGGCTTATAAATTTAGCTCCATTCTACGGGAGCTGGAACTCAGATTGAATGTGTCTATCAATCATCTTTGGGATTCTGAGCCTCTGGTAGAATTCTAGAGCCTCTCCCAGCAGCAAGGTCACTTCTAAGGACAGCTGTGAGGCAAAAGTGGATCATATGATCACAAGATAGTGAGGCAGAATGATAAATACACATTATATCTGACAGGAGAGGTTTGGAGTTTATTTATCTTCCCTATTTATTTGACTCCCT
|
ATACTCTTCTCTTTCCTCATCCCCTCCACTTTTCTCTGGAGTGATTCAGAACTCCCTGAGTCTCAGAGCCACTCCCTCCCACCTGAGGGTCCCCAGATGAATGACTGGCTAGGTCAGAAGCAGAGTTCTCATTCACACTGGCATCCTCTGGTCCTGGTGGTTACTGTCACCTGCAGGGTATGTAGTCCGAGTGTCCAGGCTCAAGCTTAGCTGTTTTTGTTTTAAATACAAACTAAAGATTCACATTTCAATAACTTGTTTTTTAAATTTTTACTTTTATACCTAGATACCACATTTTTTTAAAAGATGCATTTGCAACCCCATCTGTGGAATACCCAGCCCCTCAGAAGAATCTACGCATTTGAAATGGCATGCTTAAGGCTGACAATGCTCTCAAGAATAGGCTCTTTGATTTTTGGTTAAAGGCTGGTGAATGCCCCTTATTTTTCATTTCTACTCCTCAACTAAATAATTGGTTGGACATATCAGTGGTGGTAATGGTGGTAGGGGTTACTAGAGAGGTAGTAATACAAGTATCAAGTAGGAGAGGCACTTTAAGAACAGACTTGATGATGTAGACTGGACCATCCCATGTCAGTGGAATTGTTAATGATGGAGCCAGGTAGGGCAGTTGGAAAAGCCTGGAATGAACTTTTGTAATTGCACGGTCTTGCTGCATGTACAGAGATAAACTGTTACACTCCTCTTGACCTCTTTTTTCTAAAGCAAAAGATATTGAATTAGATGATCTCTGAGGACTCTGCCAATATTAAGGCTTTTTGATTAATTTTATAATTAATGCTTATCATGGTTTCTAAGGTTTTTAATCCTAGTTTCAAACTTAGTAAATATAGAGTGTCTTAACTACTGCCAACATACTGTTTTTTCACATCTTTATGAAAATTTCACATTTCTATGAATTATTTTATTCAGTCCTCTTATAAGTTAAGCAAGGCAGATAGGCAAATAACCCTGAGGCTCAAAGAGGTTCAGGAATTTATCAATGATTATTGATAGAGCTATGGCTTCAAGCTCTCATACTGTACTGTTTCCCTTGAATCATTTCTTGCTGTAACAACAGGGGTTAGTCCTCAAATATAGCACTGGGAGAAGATATAAGTAAGATACAAGGTAATGTTAATATGTTAAGCAAAAAGCAATATGCAAGGAGCCACCTAAGGGAGAAAGAGTAGAAATACTCACAGTCTATCTTGTGGTTTTCTGGGCCTGTTTCTATGAAGGTGTTTTTTTCCCGAACATCTAAACTTGCATACATCTTTCAACATCACCAATCTCTCAGAGACTTAGGACATGTTTAAGAGAAACAGGTACGGTAAAATAGGAAATATGTCAGATGTGGTTTGGCATTTTTGCCTCTGCCACTCACTATGTGTAAGCTATCAGATCTTCCATGTTCTCTTCTATAAATCTGGTATAATACACACTTCCTAGGCTGTTGTAAGAATTAAATGAATGGCTATGTGAACATGCTACCTAACTGTAAAGCTATATAAGTCTAAGTGGTTATTGTGGGATGATAGCAGCAGCTGTGTGAATATATTGTCCTTCCTTCACTAGATGAAGCCACCTGGGGAACTGAAAAGCAAAACTGGTAATATTCAGCCTCCAATTCCAGCACCTTTCTTACATAAGGTTCGTGGCCGTACATACCATCCCAGGAACTGGACTCCATCCAGTTGGCAGCATTGAAGAGGGAGGCAGTACCACCGTAGCAGGCATTGGTGGTATCTATGCCCTCAATATCAGTATTGCCTGAATCCTGGAAGAGTTCCATGAGCACTGTTTTGACAGCTTTGGACTTGTCAATGATGGTCTCAGTGCCTACTTCCAGCCTGCCCACAGAGTCCCATGGGAGCTGTATGCGCTCCATCAGCCGTTGCACCACCGTCAGGCACAGGGAGTTGATGTCCTCTTGGACTGAGCAGAAGCCCATACGGGTCTGGCCCAAGCCCACTGTATACTTTCCTGCTTCCACATTGTTATACTTCTCCAGGTCAGTTTGGTCCACATATTGGGCTGGGAAGTAGATTGGCCTCCAGGGCCATATTGGCCTCCAGGGCCAGGATGCCCACGTCCTTTGGCCAAGTATCTGTTTTGGCCAGGGGGACAGCAGAGGCTGTAGAAAACCTGTGATGGAGATAACAGTCAAACTCCCACTAATGGTCTGTAGACAATTTCCTCAAAAGACAGTAACATAGCAATCATTTAATTAATTTTCTATATTTTGAAGCTATGTTATCAGATGACTACAAATTTAGTATTGTTATTATCTTTTCATTGAATTGACCCTTCTATACTTATTAAATATCCCTTTTCATCTTTGTGATATTCTTGGCATAAAGTTTCCTTTCCTGACGTCGATATAGCTACACTAGCTTTTTGCTTACTGTTTCCATGGTACATCTTTTTCTGTCCCTTTTTACTTTCAACTTCTTAACGTCTTTATCTTTAACATACATCTCTTGTGATCGGTATATATATTTTAGTCCTTTAAAAAAATTTTAATAAGTCTAACAATAGTGGTGTTTTAATTTGAGTATTTCATCCATTTATATTTGTTGTAATTACTAATATAGTTGGAACTAAATCTTTTTTTTTCTCTTTTTTGAGACGGAGTCTCACTCTGTCACCCGGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGTGATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGGAACTAAGTCTATTTTTTTATTTGTTTCTATTTGTCTCATTTGTTCTTTGTTCTTTTATTCCTCCTTTCCCATATCCTTTTAGAGTAAGCAAATATTTATTATTCATTTTATACCCTCTTTTCCTTTTACTGGTGACCTTAAAGATTATAACATGCATAATTGGCTTGTTGTAATCTTACTTAAATTAATACTTATCTTACTTTTGGAACACTGCAAAAACTTTAGGTTGACTTTATTTACTCTCTGCATCCTTTTGAACCATTATTGTCATATACTTTACTTCTACATGTTATAAGCCCTTATAGGGCATAATTATACAATCTTTACTCATTTTAAAAGTGTACCTCTAATTACATGTCTTTCTCCTTTCTTTTTTCTACACAAGAACATACCCACTGTTTTCCTACTTTTAAGTAAGTTTTCTGCTAGCTGATTTTTCTGATAGGGCCTTCCAATGTTTATTGAGCACACCCAACACAGTTCTAGTCCAAATACACAGCAGTGAATAAGACATGCATTGTGCCCATAAAGAGAGCACAGCCCAGTGAAAGAAGCAGACATTTTACAGCTAAATATGCAGGGAACACAGACAGCAGAAAGAGCAATTCTAAACGAGAGCAGAGGAAAAAAGGAAGGGGAAGGAGTCAGCAGAAGAAGGGAGAGATGATCTATTTCTTTTCTGGACCAATTCACTTCTCTTTAACCCAGATTCTTAATATCCCTGGCGAAAATCTGTGTTCCCTTTTGTATGGGAGCATACTGGAGGTGAACTTGGTGATCTCTGTACTGCTCCCATACAAAAGTACTTTATACCTTCTGTTCACTTTAGCAACATTCTTCATTTTATAGTTAGTGAAACCAAGGCACACACTGGTAAAGTGATGCACTCAGGGTAACTTCATAGTTTCTCACGTGTTAGAAATACTCTGTCCCTTCACTGCCCTGGGTGCCAGGCTTATAAATTTAGCTCCATTCTACGGGAGCTGGAACTCAGATTGAATGTGTCTATCAATCATCTTTGGGATTCTGAGCCTCTGGTAGAATTCTAGAGCCTCTCCCAGCAGCAAGGTCACTTCTAAGGACAGCTGTGAGGCAAAAGTGGATCATATGATCACAAGATAGTGAGGCAGAATGATAAATACACATTATATCTGACAGGAGAGGTTTGGAGTTTATTTATC
|
pathogenic
| 13,935 |
Benign or pathogenic: chromosome 1, position 119915812, gene NOTCH2 (notch receptor 2) variant? Disease(s) if pathogenic?
|
pathogenic; ['Hajdu-Cheney_syndrome', 'Monoclonal_B-Cell_Lymphocytosis']
|
GAGTTTCTACGTTAGTTGCCAAAGGGAATGTCATGGCCGCTTCAGAGGAAAAGAAATGGTAGCAGAAAATAGCAAAGGCTGCTATATAGTTCCTCCTTTTCCAACCTTCTTATAGGGCTGTTTTGGATCATAGAAAACAAGTCCAACTTTCCAATTCCTGCACTTGAACATATAAAGTCCATGTCTTCAGTGAGAACATACTGGGTATACCAGTAACACGGACCACACGGTGTGAAAGAAAGATTGGTGAGCAGGCCTTTAAGCAGCAAGATAATCAGTAGAGACTGATCATCTGACAAACGGAAGACAACTGTCACTGGGTCCCTTGGGCTAAGGAAAGTTCAGTCCTAAATGGCAAGGGTACAACATTTGAGACAGTGTCTTCTGTGGATATGAAAGGAAAGGCTCAACAGTTAAGACTAGTTTCATATGCTGGGTGAGTGAGTGAAACAGGCCTAGAATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAG
|
GAGTTTCTACGTTAGTTGCCAAAGGGAATGTCATGGCCGCTTCAGAGGAAAAGAAATGGTAGCAGAAAATAGCAAAGGCTGCTATATAGTTCCTCCTTTTCCAACCTTCTTATAGGGCTGTTTTGGATCATAGAAAACAAGTCCAACTTTCCAATTCCTGCACTTGAACATATAAAGTCCATGTCTTCAGTGAGAACATACTGGGTATACCAGTAACACGGACCACACGGTGTGAAAGAAAGATTGGTGAGCAGGCCTTTAAGCAGCAAGATAATCAGTAGAGACTGATCATCTGACAAACGGAAGACAACTGTCACTGGGTCCCTTGGGCTAAGGAAAGTTCAGTCCTAAATGGCAAGGGTACAACATTTGAGACAGTGTCTTCTGTGGATATGAAAGGAAAGGCTCAACAGTTAAGACTAGTTTCATATGCTGGGTGAGTGAGTGAAACAGGCCTAGAATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCA
|
pathogenic
| 13,950 |
Assess the variant on chromosome 1, position 119916271, impacting NOTCH2 (notch receptor 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Alagille_syndrome_due_to_a_NOTCH2_point_mutation', 'Hajdu-Cheney_syndrome']
|
AATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGC
|
AATGCTCAGATCTGGGACAAATGTGTTCCATACAGGCAGTCAATGGAATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCN
|
pathogenic
| 13,958 |
A genetic variant on chromosome 1, position 119916317, affects the gene NOTCH2 (notch receptor 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Hajdu-Cheney_syndrome', 'NOTCH2-related_disorder']
|
AATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCAGTTCTCTAAGGGTCACGTAACTCTATTCCCCTCGTCAGAGGCATG
|
AATGCTTGGCAGGAAGTAGGGGGACCTGTGGGTGGGTAACTGGCTCTTGCACGAGTTAACTTGTCTCTTGGTCATTCCAACATTCCAAACCTTTTTCTGGTTTTAAAAAAGTGGGGAGGGTCATAGTAACTAGACTATCAAGGATAAAACTTTACACTGACCAGGCCCATACACAGAAAAACAACAAACTCACACCCTTCTTCCTGGTAAAGTTTATATGAAGACCTGCACACAGACAAGAAAAATTAAGGTGCAGCCTCTTGAAGGGATCTCCTGCCCCCAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAGGAGGAGATGCGTAGGTCAATTCAGGCAGAATTCCAGGGCATAATTCCCAACAGGACGCTAGTGTAGAATCTTCTCATGGATATGGCAGAAGCCTGCAGGGCTTAAAATGCAGTCCAAGCTGCAAGAATGTCTGGGCTTCAATAAGCATCCATCTTATTCTCCAAATAGAAGAGAGTAAACATGGACCCAAGGCTTGTATTCATCTTGCATTTCCACAAACTTGTCTTATTAGATTAGAATAATCAATAAGCCTTGCAGATACCCAGTGAAACTGACGAATTGCTTCTCTTGCATTATCTGAATAAGAACATCTTCTCTTTCCTACCTCTAGAAGCTGGCTCCAGAGATTTCTTCATTTCTCTCCCGGATGACCTTCATTTGTTCCTCAGCAGCATTTACAAAAGTCAGTTATGTCTCTACACTGGAGGTGGACTCTCTCACGCATAAACCTGCATGTTGTTGTGTGGTGGCTCAGACATGTGTGTCCCAGGTCCCCGCTGACCTCCTCCAGCACCCCCAGGGGTAGGGCTGGTGGTCACATCTGACCAGTCAGAAGCAGAGTGGGGTGATGAACTTGACCACTGGTCAGGAGACTCTGGGGATGGTGTCAGGTAGGGATGCTCACCCTGGAGGTGACCACTGTGACTGGGTGTTCGCTCAGCAGCATTTGAGGAAGCATAACTGTGCTGTGAAGGGGGTGTGGGGTACTTGCCCACAGAGGCTGGGAAAGGATGATAGGCTGGGAGAATGGTCTGAGCTACCTGCCCGTCCTGCTGGGGCATCATGGCAGTGGGGAAAGCCACACTGGGCAAACGGGCCATTTCTGGAATCTGGTACATGGTGGGCAGGGGGCCCGCAACAGCTGGAGGGCAGGTGGACTGAGGCTGGGGAGCCCCCGCTGGTTGGGCAATACTGCCTTTAGGGATGAGCTGGAAAGTCACAATGGGGGGCAAGGGCTCCCGAGGGGTGGTTATGTGCTTCCCTTCAGGTGGCCTGCTCTGGGGAGCTATGCCAGGATGGGTGCCCTCAGCTGGAGCCAGGACCATACCAAACATCTCATTGTACTGGGTCTCATTCACCTCCATGCGGTTCATCCAATCTGCTGGGACTGGGACTGGATGGAGCCTACTCAAGCTTCCAGCACTGCCACTGCCTGGAGACACAATGTGGTGGTGGGATAGCAACTGGCTCACTGAGGGAAGCACAGTGCTGGCCCCATGTGCCAAAGGCTGCATTTCATGAAGGTTAGAAAAAGATAGTGCATGCTGGGCATGGACTGGGGCAGGAGGGGCGGCAGTGGCCAACATAGGGTTGGGTGAGGCCTGTAAGATCCCAGGGGATGTAATCATTGGAGAGGATGTGGTGTCGGAAACATACGTGTGAGGAGATTCTAGGGAATCAACAGGGGATAAAGTTACTGAACTCTCAGACAGTTGGACCTTCTCACTCAGACTTCTTCCTCCTACTACCCTTGGCATCCTTTGCCTCCTTGGCAAGGTTAGGGAGGCTAGTAGGCATGGTACTCTTGGCACTGGGCCGTCTAGACTTCTTGCCCATTGGGGTGTGCTTCAGGCTGAGGAAAGATCTGTTGGGCCCACAGATGACAGGTGAGAGAGCAGAAGTCAACACGGTGCCTGGAGGGCTTGGGGTCACATTGTATTCATCCAGAAGGCGCACAATGTCATGGTGCATGCGATCCCGAGCCACATCCCGGGGAAGACGATCCATATGGTCTGTGATGTCTCGATTGGCAAAATGGTCTAACAGGATCTTGGCTGCTTCATAGCTCCCCTCCCGGGCAGCAAGAAACAGAGGTGTCTCTTCCTACAGAAAAGGCCCATCACAGAACACATGTTAATAACACTCTTGAGAATATAGCAGTTTTTCTCAATCTTTTTTATTATCACCCCCTTAGACATGTTTTCCTAATTATCTCCCCGATGAAATATTAACACCACAGATAGGCTGTGCCTCTACCAATGTACTGAATGTGTATCTGTGATTTACACATAAAAAAAGTAAGATTATTTCACCTCTCCTCAAAAAAACAATTTTGCCCCTTAGGGGGAACATCTCTTTAGTTGGGAATTCATAAAATAAAGCATGCCCCTGAGCCAGAGACTCACTTAAAAGAGTACTGAGCTTATCAAAATAAGGTTAAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAATAGGAGTTAGAAATAAGAAATAATAGGAAAAGGAGTTAGAAATAAGAAAGGTAGGAAGAGAAAAAACTAAGGCATGCACAGAACTGGGAAAAGTAAGGGAAACAGTGAAAGAAGAGACAAAACATGTGCAAGAAAGGACTAAGATAAGGAAAACAAAGAAAACTGAGAGAAGATGAATGAGAGAAGGAAGCAGGACAAAAAACTCAGATGGAGAAAAATCAAACAGGAAAACATCAGGGTATCCAAGGACAGAAAAAAAAGCAGCCGGAGGGAAAAAAGAAAGAAAACGAGAAAAAGAAGTGATTATGAACAGAAGAGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCAGTTCTCTAAGGGTCACGTAACTCTATTCCCCTCGTCAGAGGCATGNN
|
pathogenic
| 13,960 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 119919428, gene NOTCH2 (notch receptor 2). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Hajdu-Cheney_syndrome']
|
AGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCAGTTCTCTAAGGGTCACGTAACTCTATTCCCCTCGTCAGAGGCATGCTTTGCAGGTAAGAATCCAAATCCCTGCCTTTCATCCCTACCATGGTCATCCACTGCATTCACATCCGCTTGGCAGTTGATCAGTTCTGCCACCATTCCCTCCACAGCCAGGCGGGCAGCCAGGATCAGGGGTGTAGTACCATCATTCATCCTGGCATCTAGATCAGTTACTCGGTTGCGAATCAGAATCTAGAAGAGGAGAAAGTACAGAAAAGAGAGTCACCTGGATGAAGGAAAATAATGAAACTCAGTGAAGAAACAAGGGCATCAGAGCTGAGGCTACAGTGTAGATTCCTGGAGGAGAGGGAAAGTCTTGTTATCTTTGTGCCCAAGATTCTATCATGATCAATCAATAAATATTTGTTGCATGAATAAATAAATACATGCTCAATAAATAATGGCTGATGTAAAGTGATGAGCCTTCTACTTTCTCAGGAAAGAAGAGGGATGTGGGGAAATATCACAACTTCAGTCAGGATACAGCCTAAGGTGATTCAGAATGCTTCCAATTTCCTCATAAGGATAAACAGGCATCAGGGAATATAATATGAACTCAGGTCAAGAAAACTGCCAATGAGCAGCTAGAAGCCCATACAGTCAGGCCAATCCATAAGAAGTAGCGGATACTAGTCAAAGGCTCCGGACCAGCTATCACTCTCATCTAATCTACGCATTTGGGAGGCATCTTGGCACAACAAATTATCACTAATAATCAGAAAGACTGGTGTTGTCTGCAGTTGGCTCTATCACTATCTTCCTATATATAGCTAGGTCAATTTGCCTGCCTCCCTTTTCCCACTTTCCCATCTACCAAGCATGACTCTAATACCTGCCCTAATCTCTCAAATGATTGAATAAATTCAATGAGATATTAATTCTTTAAAAACGATAAAACATTATAGAGCCATAGGAATTATTATTCAAGTGACTCTTCTCATGTTCTTTACCTGGAAGACACCTTGGGCATCAGCTGCCACTGCAGCATGGAGTGGACAGCGGCCCATGTTGTCCTGGGCATTGGCATCTGCACCTGCATCCAGGAGACGCTTGGCAGCATCAGCCCGTGAGTAGCGGGCTGCAAGGTGCAGGGCCATCTCACCAGTCCGGTCTGTCTGGGCCTGGAGGCTGGCACCCTGGTAGACCAAGTCTGTGATGATGTTAGCAGAAGAGTCCTCTGCATCTTCATCTTCATCACTCAAATCTGAGCTGCCTCCTCGGAGAGAAGCCAACATCAATGGGGTGCAGCCATCTGTAGGAATGGAAAATTCCATAAAGTACTCAAGAAGGAGAAGGTAGTTAACCCTATGGTTGAAACAGCTCTATTTGACTAAAGTTATTCTTAGGGGCAAAGAATTCCCTGTACTTCTTGTAGTAACTGGTTATTAGTTTCACATTTGCCACCTTTTCCTCTGATAGTATCATTTCTGTAAAGAATAATGGGAAAGTACAAGTCTTTTTAAGCTGGGGGCTCTTCTCTAAACACGTTTTTCTGTTCAAGTTTAAGTGCTGTTATTTTAATTGGACATTTAAAAATATCTAATATTAATAGAACAATTAATACATGCATAAGATACTAACTATCCTCTGCTTTGGGATATTATTTTTCTATCCCACTACAATCTAACCCATTTTATCAGCCTGTTTAGTCTCAACACACTGTACATGAAGCAATGTGAAATCCTTCCCTTTCTGAGCTGATAATTTCTTTGTGGCTACATTCCTTAAGCATTCATTTCCTCGAGCTGATTTAGAGTCTGTGAAATTGGGAAGGGGTTTATGACTGGACAGGGCAAACACAGGGACAACAATGTGGAACCATGGGCAGACACAGCCCAGTGAAGAGGGGAAGAGGCCCGGTGCTGACCTGGGCCACGGACATTCACATCTAACACATCCACCTCCTGCTCTGCCTGAGGAGGGGTGAGAGCCAGCGATGGTGTCCTACGGATGTCTGCAGCTTCAAGGTGCTGCTGTGTCCATGGCCGTCGATCAATGGGGTCATCTTCTTCTGAGAGTAAGGCCTCATCTTCAGCCTGAAAGGTGAAAACAATGCTCCCTATCAATCTGGCCACCACCAGAAACTGCTAATCAGAAGGTGTCCAGAGCCTCCACCACCGCTGCTTATCTCCCATTGTTTTCTCTCTTCCTACTCCTCCACCCCTCCAGAGGATTACCTCAGCCTTGGCTTCCCACTGCTCTCGTGATGTGGCTCCTGCTTACCTTTCCTGCATCATCTAGACAACTCCCTCCCCCAATCCCAAACTCTAGGCTTTAGCCTTTAGATCTCCAGAGCACCCAATTCTCACTTTTCCTACCCTCCACTAGAAAGTAAACTTTAATTCTTCTTGTTGGCCCTAAAAAGCATACTCTGCTTACCTCTGCTTAACTGATCATGTGTTAAATGCTTACACAGCACTACATGGCCATCTCCACCACAAGGCTGTAAGCTTCTCAAGAAGGGAAAATAAGCCTTGTTCAAGGTTGTTTCCTTGTACTCAACATAGCACCCAACATGTAGTAAGCACTCAGGAAAGACTATTCAATAATAATAATCATGATAATTTAAAAGCAGCTACCCTTTACTGAATACCTAGTACATGACAGGAAAGTAGATAAGGCACATATGCCAACACAACAACTCACAGAGGAAAGGGTTATTATTATCCGCATTTTACAAGGAAGGATAATTACAAAGAGGTTAAGTAACTTGCCAGCTACTAAGCGGCAGAGTTTTGGATTTGAATCCAGTTCTGATATTAACTAAAGCAATCTTCTTAACCATCATGCTCCACCAGCTCCCAGCCATGCACAGCTGTGGATGGATGGTCTGCTTTTTCATGTCAGTCTCAGCCCAATCTACCACTTGCTTTTATATGGCTTTAGTTTCCTGGGCTCAAGGTATGGAGCCTCCAATGTCAACGTTTTGCCATGATCACTGGCTTTCATTTTGCCAATGTCAATGATAACTGGCTTTCTTCCACTGCTTAATTTCATCTTCTCTTATAGAAGAAGTGCCCATAAAGGATAAGGAAGAGATGTGGCCATGAAGGAATTGCCATCTACACACACCATTCCTGACTTGACTACTGCCAGCATAACACTAAAGGAAAC
|
AGACAACTGGAGAAAAGGAAATGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCTCCACATTATTGACAGCAGCTGCCCAGTGAAGAGCAGATTTTCCTGCAGGGGAGAAACATTTTTATAAACAGACATATCCTACTCTTAGTATAAGACACTATGACTTGCACAATGAAATCTTAAACTCCCCAGAGATCAGCAGGAAGCAGTTCTCTGTAGGGGTCTATAGGAAAAACCAAAGTAATCTCTTCTTTTTCCTCTGTTCTAGAAATACTTCAGTACAGGCTGCCTAGCCTGCAGAAGACCTCTAGGTGAAAGGATCACTTGTATGAGGCATTCATGTCCCCTACATGGCAGAATCTACCCTGTTACATACTGAAGATAAAAACCTATATATTACATGTCAGAATTTATATTGAGAATATTCTACAACTCTCCTAGAGAAGTCAGCTCTCATAAATCCTCAAATCAAGTGTTATGCCTAGGAAACTACATGGGAACACCTTTCATGTATCTGCTCTGAGGTCCAAGAACCCTCATTAAAAATCCCTCATTTTAATTAGGGATCTCCTACTGGCTTGGATCTCTGAGCTCAGCATGTTAAATAAATGCATGAATGAAAGAATGAGTGAATCTCTCACGTATTTGGATCTCAGGCAGTTCTCTAAGGGTCACGTAACTCTATTCCCCTCGTCAGAGGCATGCTTTGCAGGTAAGAATCCAAATCCCTGCCTTTCATCCCTACCATGGTCATCCACTGCATTCACATCCGCTTGGCAGTTGATCAGTTCTGCCACCATTCCCTCCACAGCCAGGCGGGCAGCCAGGATCAGGGGTGTAGTACCATCATTCATCCTGGCATCTAGATCAGTTACTCGGTTGCGAATCAGAATCTAGAAGAGGAGAAAGTACAGAAAAGAGAGTCACCTGGATGAAGGAAAATAATGAAACTCAGTGAAGAAACAAGGGCATCAGAGCTGAGGCTACAGTGTAGATTCCTGGAGGAGAGGGAAAGTCTTGTTATCTTTGTGCCCAAGATTCTATCATGATCAATCAATAAATATTTGTTGCATGAATAAATAAATACATGCTCAATAAATAATGGCTGATGTAAAGTGATGAGCCTTCTACTTTCTCAGGAAAGAAGAGGGATGTGGGGAAATATCACAACTTCAGTCAGGATACAGCCTAAGGTGATTCAGAATGCTTCCAATTTCCTCATAAGGATAAACAGGCATCAGGGAATATAATATGAACTCAGGTCAAGAAAACTGCCAATGAGCAGCTAGAAGCCCATACAGTCAGGCCAATCCATAAGAAGTAGCGGATACTAGTCAAAGGCTCCGGACCAGCTATCACTCTCATCTAATCTACGCATTTGGGAGGCATCTTGGCACAACAAATTATCACTAATAATCAGAAAGACTGGTGTTGTCTGCAGTTGGCTCTATCACTATCTTCCTATATATAGCTAGGTCAATTTGCCTGCCTCCCTTTTCCCACTTTCCCATCTACCAAGCATGACTCTAATACCTGCCCTAATCTCTCAAATGATTGAATAAATTCAATGAGATATTAATTCTTTAAAAACGATAAAACATTATAGAGCCATAGGAATTATTATTCAAGTGACTCTTCTCATGTTCTTTACCTGGAAGACACCTTGGGCATCAGCTGCCACTGCAGCATGGAGTGGACAGCGGCCCATGTTGTCCTGGGCATTGGCATCTGCACCTGCATCCAGGAGACGCTTGGCAGCATCAGCCCGTTGAGTAGCGGGCTGCAAGGTGCAGGGCCATCTCACCAGTCCGGTCTGTCTGGGCCTGGAGGCTGGCACCCTGGTAGACCAAGTCTGTGATGATGTTAGCAGAAGAGTCCTCTGCATCTTCATCTTCATCACTCAAATCTGAGCTGCCTCCTCGGAGAGAAGCCAACATCAATGGGGTGCAGCCATCTGTAGGAATGGAAAATTCCATAAAGTACTCAAGAAGGAGAAGGTAGTTAACCCTATGGTTGAAACAGCTCTATTTGACTAAAGTTATTCTTAGGGGCAAAGAATTCCCTGTACTTCTTGTAGTAACTGGTTATTAGTTTCACATTTGCCACCTTTTCCTCTGATAGTATCATTTCTGTAAAGAATAATGGGAAAGTACAAGTCTTTTTAAGCTGGGGGCTCTTCTCTAAACACGTTTTTCTGTTCAAGTTTAAGTGCTGTTATTTTAATTGGACATTTAAAAATATCTAATATTAATAGAACAATTAATACATGCATAAGATACTAACTATCCTCTGCTTTGGGATATTATTTTTCTATCCCACTACAATCTAACCCATTTTATCAGCCTGTTTAGTCTCAACACACTGTACATGAAGCAATGTGAAATCCTTCCCTTTCTGAGCTGATAATTTCTTTGTGGCTACATTCCTTAAGCATTCATTTCCTCGAGCTGATTTAGAGTCTGTGAAATTGGGAAGGGGTTTATGACTGGACAGGGCAAACACAGGGACAACAATGTGGAACCATGGGCAGACACAGCCCAGTGAAGAGGGGAAGAGGCCCGGTGCTGACCTGGGCCACGGACATTCACATCTAACACATCCACCTCCTGCTCTGCCTGAGGAGGGGTGAGAGCCAGCGATGGTGTCCTACGGATGTCTGCAGCTTCAAGGTGCTGCTGTGTCCATGGCCGTCGATCAATGGGGTCATCTTCTTCTGAGAGTAAGGCCTCATCTTCAGCCTGAAAGGTGAAAACAATGCTCCCTATCAATCTGGCCACCACCAGAAACTGCTAATCAGAAGGTGTCCAGAGCCTCCACCACCGCTGCTTATCTCCCATTGTTTTCTCTCTTCCTACTCCTCCACCCCTCCAGAGGATTACCTCAGCCTTGGCTTCCCACTGCTCTCGTGATGTGGCTCCTGCTTACCTTTCCTGCATCATCTAGACAACTCCCTCCCCCAATCCCAAACTCTAGGCTTTAGCCTTTAGATCTCCAGAGCACCCAATTCTCACTTTTCCTACCCTCCACTAGAAAGTAAACTTTAATTCTTCTTGTTGGCCCTAAAAAGCATACTCTGCTTACCTCTGCTTAACTGATCATGTGTTAAATGCTTACACAGCACTACATGGCCATCTCCACCACAAGGCTGTAAGCTTCTCAAGAAGGGAAAATAAGCCTTGTTCAAGGTTGTTTCCTTGTACTCAACATAGCACCCAACATGTAGTAAGCACTCAGGAAAGACTATTCAATAATAATAATCATGATAATTTAAAAGCAGCTACCCTTTACTGAATACCTAGTACATGACAGGAAAGTAGATAAGGCACATATGCCAACACAACAACTCACAGAGGAAAGGGTTATTATTATCCGCATTTTACAAGGAAGGATAATTACAAAGAGGTTAAGTAACTTGCCAGCTACTAAGCGGCAGAGTTTTGGATTTGAATCCAGTTCTGATATTAACTAAAGCAATCTTCTTAACCATCATGCTCCACCAGCTCCCAGCCATGCACAGCTGTGGATGGATGGTCTGCTTTTTCATGTCAGTCTCAGCCCAATCTACCACTTGCTTTTATATGGCTTTAGTTTCCTGGGCTCAAGGTATGGAGCCTCCAATGTCAACGTTTTGCCATGATCACTGGCTTTCATTTTGCCAATGTCAATGATAACTGGCTTTCTTCCACTGCTTAATTTCATCTTCTCTTATAGAAGAAGTGCCCATAAAGGATAAGGAAGAGATGTGGCCATGAAGGAATTGCCATCTACACACACCATTCCTGACTTGACTACTGCCAGCATAACACTAAAGGAAA
|
pathogenic
| 13,967 |
The mutation in gene NOTCH2 (notch receptor 2) at chromosome 1, position 119923739—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Alagille_syndrome_due_to_a_NOTCH2_point_mutation']
|
GGTTCTACCATGGCCACCTCACCTTTACTTTCTTTGGCTGGGGCCCTTCATCATCGACCCAGTGTTCACTTGTTCCAGTACCAATTAGGTTAGCTTCTGAGACTTGCACTGAGAGATTTCTAATATGATTATAAAAAGAAAAAATAAGAATGGCAGTCATAAACTAATACAGTGGTTTTCAACACTTTCCACCATGACACACTCCCGTGGCTATATTACAATTTTGCAGGGTCTTGGCCCAGAGAAGATGGGCAGTATTTTTGGTGACATTCCCTTGGCATTCATCCTTTCCCTTCCCATTGATCGTGAGCTTACAACAAAAGGGCACCTCAACACAGAAGCTGGGCGGCATTGTGATAATATACACAGAATAGATGCACCCACGCTCTGACTGTGGTTTCAGTCACTCACAAGGCATTTAGAATCATGGTCAATGTGAGTAAATGCCCAGAGCTTAGAATTTAAAATCATGATTCAACAAGATATGCTTTTCTAGTCATCCCTACTTATACTGTGAATAGTGGCTTATTGGCAATGCCTCTTACTTCAGCCCCACAGCATCCTGTCCCACTGGCTCACGACGCTTGTGATTGCTTGCATCTCGGCGAAGAGTGAAACCTTCAGGCAGCCAGAGAGAGCCATGCTTACGCTTTCGTTTTGCCATGATTACCCCCAGCAGAATAATAAACAGAATGATGACAACAGCAACAGCAAGGAGATAGAGGAGCTGAGTGCGTTCTGGAGTCAGGGATTCACCTGAAAGTCCACAGAGACAGGGAAAGTGCTGAATAAAACATTAACCTCTCAATGTCAGCATTAGATTCATTTAGAGGGCAACTTTGACCTCAACAGTCCTGAAAAAATAGAGGGCTACATAATGAAAATTGTTCCCCCAATTGACACTCTTCCCCCGCCACCTTTCCCCTTTACACCAGTGCCACTCACTGACGACAGACACAAGAGGGTATGACAGGGTCCCCTGTATGGCGTGAGAGGCCAGGAGAGCTGCTGCTGCATCCGTGTTCTTGAAGCAGTGGTCTGAGTCTTGAACACACTGGCGGTTGTCAATTTCCAGAAAGACTTTAGAGCTGTGGGATGCCAAGGGAGAAGCGGAGGAGGAGAGATGGGGGTAAAACAGAAGAGTGCAGGTCAGGCAGAACATGTCATAAAGGGTGACAGGAGCCTCCCTTCCTCCCCTTCAGCATCAGGTCCCCACCTCTGGGATGCTGCCTTAAGACATATCTCAGGAATTAGAATACTGTCCCTTGAGATCTTAAACACTAATTCCCACATAGAGGATGTCCCACCTTCCTTAGTCTGGCTGACCAAAGCCTTCTGGCTGAGGCAATGCATGACAAAGTGAGAAGCTGTGCTTTCCTCCCGAAGGTTTCAGTGGTCTTCTTCCACTCTTTCATACCTACTCAGTGGTACTTGGTGCTACTCTAAACATACATCCCTGTGTGTTTTTAGTCCTTATTTTCCTTTGTCTCTGCATTGGTATCTCAGCTAGCTGGAGGGTTGAAAGTTTGACAATATACCAACAAAGAGTGAGGTGTGAATGACAGAGCAACTGAAGATCATTACCTGTGTCAAAGAGACATATATTCTAAAGAAGGGCCTTAACAATAAGGCAATGATTAATGTAAAAAGGAATGTCACTAATAAAGGGATTTGAGGCAACTCTGGCAAAAGGTTATGGATTCTGGCATCTGAGGAGGCCTTCCAGACATTCTGCCTCCTGTGTACCCCTGCCCACTTTTCAGCCAAGACGAAGGCATATCTTTACATTTAAACGTAAGTACTGGGGTAACGGGTTTATCTTAAGTGGTGGGCCATTCTATTTTTCTGATCTTTGCATTTCTATAGGTTGAGTTATGACTTGTGCTATATGTCAAAGTGCTAGGCTTCATAAAATTAGCCTTGAAGTTCAGAAACCAAACACCTACCCAGCCACCTCCTGTTCTTGTTCACCAGGAAGGGATCTGCGTGTCATCCTCTGTTTCTTCATAGCAGCTGACTTCTCACCATAATAGGGGTACACCATGAGTTCCCCCTGGGAGTCCCGCTTAATGCGCAGGTTGGTGTGGAGCAGGGTACCCAGTGCCCGCAAGAAGCTGCGAGCATCCTGGAGCAGTTGTTCAGGTGGCATCAATACCACAATAACCAGGGTACCTTCTGCCAGGTTCTCAGGTTGGTCAGCAGCACAGTCCAGCCCATCCCAACCACACTCCTCACTGTTGCACCCCTGGTCACAGTGGTTGTCTTTGAAGTGGTCTGCACAGTATTTGTCATACCTAGGTAAGGGGAAGCAGAGAACAGGCAAAAGAGCTCAGATTAGACTGGAGCTCTATTTGCTTTTTCATTTGGAACTACTGTGGATTTTCCTACCCATTTTCTGTGGCCCACACCCAGGACCCAAATGCCCCACAAAACCTTCTTTGCATCTCCTATCCCTGATGCCTATGCCACTCATCCTTGTTGAGTACTTCCTAAATGAAGAACATTGTACTCACTATGCTGCAGGAGCTTAGGGGCTCCCAGGCAGTTTACAAGCCTGTTAAGTCAGGTTTTCAAACAAAGCTGCATATCTGAAACAAAAGTCAACCTGGTTCATGCTTCCTCTACTTTAGAGAAATCCATTGCCCCCAGTAAGGTAACAACGGGCTTTAGGAAGTGAAAGATGCCTCTAGAAACTTGATACAAGGCCCTGAACCATTGAGAGTTGCCATACAGAGAACAATATTAACATGACCCATTTCTTTCCCTTTCAAGAGTGAATCCCAACTACAGAAGGTAAAGGCAGATGGGTATGTCCTTATAGCACACCAGATATTACTTGTACAGGCTCTTTCAATATTTGGAAAAGGAATTAGAACCCCCAAACCTAAATGATGTACAAACTATTCCATCTATACTCTCCTCTCCTCATCCCCTACCCCTTGATATTTATACTATTTGGTACAACTTTTCATGCTAGCTCAATCAGAAGATTAGGAGTCAAAGAAACAACTTGCTTTGGCAAGTTCTTTAACCCTTGGGCCTAAGTTCTCTCACCTATGAAAGAATGTTAGTAATACCTATGCCTCGTGAGTTGCTGAGAATTAATTGGGATTAAATTATATGGAATGGCTAGTTAATAGGAAAGTTCCTAAGTAAACCATAGAGCATCCTATACAATTAAGACCGGGAGGGTTCACAGACTTAATCTAATTCATGCTTCCTGATAAATCTAGATGGGGAAAAACAGTCTTAGGGAAAGGAATGGGGTGAAGAGAGAGATACAGACCTTTCCATCCATCCTGCAGGCAGGTTATGTGAGAGGCTGCTTGAAGTGGGAAACACCACTTCCAAAAGTTATATCCCCCAGGAGGTCACGAAGGCAGCAGGTGAGAAGGCAAAGATAGGCAGAGAGAGAGGGTCATTATGCAATGAGCATTCCTGGCCCATTGTCAGCAAGGGAGAGCACAGGGCAGTGTGCGATGGGACAAGGCTGGCACCATCTGAAAAGCAGAGGCAGCTTAGGCTGAAGCACTGGAGTGGTTAGGAGCAAGAACGAGAAACTGAAGTGTGTTAGTGACAGTCCCCTTCAGTTCTGGAAAACGTGAAGCCCTTACTTGCATGTCTTGCTGTTCCCCTGGCATTCAAAGTTGTCAAACAGGCACTCGACCGTGTTGCACAGCTCATCACACTGGTTGTTGATATAATCCCAGCAGGGAAGTGGGGAGGAGCAGTTGGCCCAGGGGTTCTCCATGGTGAGAGAACAGTCACCCCCATCCCACTGGCAGGCATGGCTGTTGCAGGCCTCATCACAGACGCCATCCCGAGCTTTGTCGGCACAATACTGGCTCAGACAGGTGGCAGGAGGGGTGCTGGGGGGTGCCGTGTAGAGTTCACAGCGGCTACCCGAGAATGGTGGGGCACACTGGCAGGAGTAATAAGGAGGCTGGCGCTGAGGGTGGCAGCTGCCCCCGTGCTGGCAGGGGCTACTGGCACAGCCTGACTCGCAGTCCCGGGGACTGGGGCAGAAGCAGCGGGGTCCAGAGGCGGTGTGCACACACTGCTCCCCCTTCCTACATTTCACTTGTCCACAGCTGCT
|
GGTTCTACCATGGCCACCTCACCTTTACTTTCTTTGGCTGGGGCCCTTCATCATCGACCCAGTGTTCACTTGTTCCAGTACCAATTAGGTTAGCTTCTGAGACTTGCACTGAGAGATTTCTAATATGATTATAAAAAGAAAAAATAAGAATGGCAGTCATAAACTAATACAGTGGTTTTCAACACTTTCCACCATGACACACTCCCGTGGCTATATTACAATTTTGCAGGGTCTTGGCCCAGAGAAGATGGGCAGTATTTTTGGTGACATTCCCTTGGCATTCATCCTTTCCCTTCCCATTGATCGTGAGCTTACAACAAAAGGGCACCTCAACACAGAAGCTGGGCGGCATTGTGATAATATACACAGAATAGATGCACCCACGCTCTGACTGTGGTTTCAGTCACTCACAAGGCATTTAGAATCATGGTCAATGTGAGTAAATGCCCAGAGCTTAGAATTTAAAATCATGATTCAACAAGATATGCTTTTCTAGTCATCCCTACTTATACTGTGAATAGTGGCTTATTGGCAATGCCTCTTACTTCAGCCCCACAGCATCCTGTCCCACTGGCTCACGACGCTTGTGATTGCTTGCATCTCGGCGAAGAGTGAAACCTTCAGGCAGCCAGAGAGAGCCATGCTTACGCTTTCGTTTTGCCATGATTACCCCCAGCAGAATAATAAACAGAATGATGACAACAGCAACAGCAAGGAGATAGAGGAGCTGAGTGCGTTCTGGAGTCAGGGATTCACCTGAAAGTCCACAGAGACAGGGAAAGTGCTGAATAAAACATTAACCTCTCAATGTCAGCATTAGATTCATTTAGAGGGCAACTTTGACCTCAACAGTCCTGAAAAAATAGAGGGCTACATAATGAAAATTGTTCCCCCAATTGACACTCTTCCCCCGCCACCTTTCCCCTTTACACCAGTGCCACTCACTGACGACAGACACAAGAGGGTATGACAGGGTCCCCTGTATGGCGTGAGAGGCCAGGAGAGCTGCTGCTGCATCCGTGTTCTTGAAGCAGTGGTCTGAGTCTTGAACACACTGGCGGTTGTCAATTTCCAGAAAGACTTTAGAGCTGTGGGATGCCAAGGGAGAAGCGGAGGAGGAGAGATGGGGGTAAAACAGAAGAGTGCAGGTCAGGCAGAACATGTCATAAAGGGTGACAGGAGCCTCCCTTCCTCCCCTTCAGCATCAGGTCCCCACCTCTGGGATGCTGCCTTAAGACATATCTCAGGAATTAGAATACTGTCCCTTGAGATCTTAAACACTAATTCCCACATAGAGGATGTCCCACCTTCCTTAGTCTGGCTGACCAAAGCCTTCTGGCTGAGGCAATGCATGACAAAGTGAGAAGCTGTGCTTTCCTCCCGAAGGTTTCAGTGGTCTTCTTCCACTCTTTCATACCTACTCAGTGGTACTTGGTGCTACTCTAAACATACATCCCTGTGTGTTTTTAGTCCTTATTTTCCTTTGTCTCTGCATTGGTATCTCAGCTAGCTGGAGGGTTGAAAGTTTGACAATATACCAACAAAGAGTGAGGTGTGAATGACAGAGCAACTGAAGATCATTACCTGTGTCAAAGAGACATATATTCTAAAGAAGGGCCTTAACAATAAGGCAATGATTAATGTAAAAAGGAATGTCACTAATAAAGGGATTTGAGGCAACTCTGGCAAAAGGTTATGGATTCTGGCATCTGAGGAGGCCTTCCAGACATTCTGCCTCCTGTGTACCCCTGCCCACTTTTCAGCCAAGACGAAGGCATATCTTTACATTTAAACGTAAGTACTGGGGTAACGGGTTTATCTTAAGTGGTGGGCCATTCTATTTTTCTGATCTTTGCATTTCTATAGGTTGAGTTATGACTTGTGCTATATGTCAAAGTGCTAGGCTTCATAAAATTAGCCTTGAAGTTCAGAAACCAAACACCTACCCAGCCACCTCCTGTTCTTGTTCACCAGGAAGGGATCTGCGTGTCATCCTCTGTTTCTTCATAGCAGCTGACTTCTCACCATAATAGGGGTACACCATGAGTTCCCCTGGGAGTCCCGCTTAATGCGCAGGTTGGTGTGGAGCAGGGTACCCAGTGCCCGCAAGAAGCTGCGAGCATCCTGGAGCAGTTGTTCAGGTGGCATCAATACCACAATAACCAGGGTACCTTCTGCCAGGTTCTCAGGTTGGTCAGCAGCACAGTCCAGCCCATCCCAACCACACTCCTCACTGTTGCACCCCTGGTCACAGTGGTTGTCTTTGAAGTGGTCTGCACAGTATTTGTCATACCTAGGTAAGGGGAAGCAGAGAACAGGCAAAAGAGCTCAGATTAGACTGGAGCTCTATTTGCTTTTTCATTTGGAACTACTGTGGATTTTCCTACCCATTTTCTGTGGCCCACACCCAGGACCCAAATGCCCCACAAAACCTTCTTTGCATCTCCTATCCCTGATGCCTATGCCACTCATCCTTGTTGAGTACTTCCTAAATGAAGAACATTGTACTCACTATGCTGCAGGAGCTTAGGGGCTCCCAGGCAGTTTACAAGCCTGTTAAGTCAGGTTTTCAAACAAAGCTGCATATCTGAAACAAAAGTCAACCTGGTTCATGCTTCCTCTACTTTAGAGAAATCCATTGCCCCCAGTAAGGTAACAACGGGCTTTAGGAAGTGAAAGATGCCTCTAGAAACTTGATACAAGGCCCTGAACCATTGAGAGTTGCCATACAGAGAACAATATTAACATGACCCATTTCTTTCCCTTTCAAGAGTGAATCCCAACTACAGAAGGTAAAGGCAGATGGGTATGTCCTTATAGCACACCAGATATTACTTGTACAGGCTCTTTCAATATTTGGAAAAGGAATTAGAACCCCCAAACCTAAATGATGTACAAACTATTCCATCTATACTCTCCTCTCCTCATCCCCTACCCCTTGATATTTATACTATTTGGTACAACTTTTCATGCTAGCTCAATCAGAAGATTAGGAGTCAAAGAAACAACTTGCTTTGGCAAGTTCTTTAACCCTTGGGCCTAAGTTCTCTCACCTATGAAAGAATGTTAGTAATACCTATGCCTCGTGAGTTGCTGAGAATTAATTGGGATTAAATTATATGGAATGGCTAGTTAATAGGAAAGTTCCTAAGTAAACCATAGAGCATCCTATACAATTAAGACCGGGAGGGTTCACAGACTTAATCTAATTCATGCTTCCTGATAAATCTAGATGGGGAAAAACAGTCTTAGGGAAAGGAATGGGGTGAAGAGAGAGATACAGACCTTTCCATCCATCCTGCAGGCAGGTTATGTGAGAGGCTGCTTGAAGTGGGAAACACCACTTCCAAAAGTTATATCCCCCAGGAGGTCACGAAGGCAGCAGGTGAGAAGGCAAAGATAGGCAGAGAGAGAGGGTCATTATGCAATGAGCATTCCTGGCCCATTGTCAGCAAGGGAGAGCACAGGGCAGTGTGCGATGGGACAAGGCTGGCACCATCTGAAAAGCAGAGGCAGCTTAGGCTGAAGCACTGGAGTGGTTAGGAGCAAGAACGAGAAACTGAAGTGTGTTAGTGACAGTCCCCTTCAGTTCTGGAAAACGTGAAGCCCTTACTTGCATGTCTTGCTGTTCCCCTGGCATTCAAAGTTGTCAAACAGGCACTCGACCGTGTTGCACAGCTCATCACACTGGTTGTTGATATAATCCCAGCAGGGAAGTGGGGAGGAGCAGTTGGCCCAGGGGTTCTCCATGGTGAGAGAACAGTCACCCCCATCCCACTGGCAGGCATGGCTGTTGCAGGCCTCATCACAGACGCCATCCCGAGCTTTGTCGGCACAATACTGGCTCAGACAGGTGGCAGGAGGGGTGCTGGGGGGTGCCGTGTAGAGTTCACAGCGGCTACCCGAGAATGGTGGGGCACACTGGCAGGAGTAATAAGGAGGCTGGCGCTGAGGGTGGCAGCTGCCCCCGTGCTGGCAGGGGCTACTGGCACAGCCTGACTCGCAGTCCCGGGGACTGGGGCAGAAGCAGCGGGGTCCAGAGGCGGTGTGCACACACTGCTCCCCCTTCCTACATTTCACTTGTCCACAGCTGCTN
|
pathogenic
| 13,985 |
Variant in NOTCH2 (notch receptor 2), chromosome 1, position 119935616—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
benign
|
GATTAACAGCATATTTCTCATTAAAAACCATGGATATCAGAAAGCAGTGGGATGATATATTCAAAGTGCTGAAAGAAAAAGACTGTCAATGATAATATCAAAACTAGTATTCTAAGCCATCTTTACCATATGGTTAGAAGAGACAAAAATTTTGTTTCCTTCTGAAATGATCCATTCTAGGACTGGACATGTCTTATTAATTAAAAGTTCATGGTATAGTAGTGATTTTAGAGTTTGATGAATACTCATGTACTCTCCTATATTTCCCAGCCTCCCTTGAAGTCACAGAGACCATTTAATAATTCCGGTCAATATACTGCGAGGGATAGTGATATGTGTTGCTTCCAGACTGAGCTAGTGGAAGCTGCTGTATGACCCTTCAAGTCTGTCCCTCTTCCCTGTACTGTGGAGGCCTTGGAGGCCAGGTGTTTCAAACCACATATCTAAAACACAGAGAAAGGTAGCCCAACACATATTCGACTTTATTTGAGTGACAAAATCAGTGTTATATTAAGCTCTGAGATTTGAGGTTTAATTAGCTGCTATAGCTTGAAGTTTGACTGCACCAAACCACATGTTAAAATGTGATCTCCAATGTTGGAGGTGGGGCCTAATGGGAGGTGTTTGGGTCCCTGGATCTTCTTCACTTTTCACCATGAGTGGAAACAGCCTGACGCTCACACCAGAGGCAGATGCTGGCACCGTGCTTCCTGTACAGCCTATAGAACTGCGAGCCAAATATACCTCTTTCGAAAAATAAATTACTTAGTCTCAGGTATTCTTTTATAGCAACATAAATGAACTACGATAACAGCTATCACCAGAATCGTAGCTTGTCCTAACCAGTACAGTTTCTCAAAGGAACAAACTAACAATGAACTGGAATTAATTTCTACTCAACCACTGATTTCTAGAATAAAGAACAATTCTCCTTTTTACAGGACAATTCTTCAAATACTTAAAGACTGTTTCTCCTTAGTTTTCTTCTTCCCATTAACCTCATTCCTTAATAATCAGCCTACTACTAGGGTACTCTCCTATTTTAATTTAGTCAAACTCTGATACCTGGGGTGGCAAATTATCAAACTTTACTGACACAAAGCTCTAAGGCAATACAAATACTTCTCTGGCATTCTATTCTCTTTGACACTAACAAGGATGAATTTCTCACCAGTGTGGATGGCCTTTTACATTTTTTTCACAGCCTTCTCAGAGTAGGCCCCAGCATAACTACATCCCTTCTAACAAACAATACTCAAAGCTCTTTCCAAGGGATGGTTCAAAAGCAGTGTCAATGTCCACAGCAGAATGATGGCCATACCACTCAGTTCAAAAGCAGTGGCAATGCCCACAGAAGAATGATGGCCCCATCACTCAACAGTCCAGGGTTGCATCTCTCATCAGGCCTTACTGCATCCTAAGGTAGAACCTTACACCATCAGTATCCTCCCCTGAAGCTATGAAAATAGGCAGATATTTTCATTTCATTCATTCCCCCACCTTATAGAGGTAAGACTTGGCTAATTAAAAAAATACAAAAGCAGGTAAATGTAAATTGTTTATTTTAGAGGCCATTAGTTGCTTTTCTGTGAAGCAACAAGAAATCTTACTGACCAGGCTAATTTTTTAATGTTATGCTAATGTTGTATCCCTTCCATATTCTGTGTTTCATGGAATATCAAGATGCCAAACAACCAGATAAAACTGACAACATAAACCACAACATCAGAGCTAGCAAGAGATGGGAGAATAAAATGGCTTGAATTACTAGGATGTAGAACTAAATGCTTGGAATGAAGCTAGTCTTCCTATCTTTAATTTTATAAAATCCCCTGAACACTAAGAATGGATTTATAACTTAAGACAATGCCCTGGATGGAAAATGGATAAGGATGATTTCATACCCCGAGTGCCTGGTGGGCAAGAGCACTTGAAATGGTTCACAAGGTCAATACAGGTGCCTCCATTCTGGCAGGGCTGATTCTGGCACTCATCCACTTCATACTCACAGTTGACACCCTGATAGCCTGGGACACACTGCCATGAGGAAACAAAAAGGACAAGAAATATTGGACCATTACTGGAAACAGACCATGAGAGCTAGTGAGATCTGGAACATTTCTGTGACTGTCTCCCACCTCCTAATTTAGCTTTTGTATGTTTTCTCTGGAACCATCACACTCTCTGCTAATCATTCTATGCAGGGACAGAAAACCTGCAGCTTACTGGCATTTACCTACTCCTCTTTCAGTTGAAAAAGGCACTTTAAAGGGAAGGCAAGGACTGAATACAATGAAGGATGTTTCAGATTTGACTTGTGTGCAAACCTTTTGTTCCTCCTGGGTACAGGTTTCCTCATCTTTAAAATACACATTCCTCCGTATGTGATGAGGACCCTATGACTCGGTCAAAAGGCATATGTGGATGGTAGTACAGACATGCAATTATTGATCTCCAGGTTTAGGAAATTGGATCTATGTGTGAGAAACTGGTTGAGATAGGCTTAGGGGTAGAGGGAGGTGGGGCTGGCTGGCTGGCTGTGGTGGCTGTAGGGGTTGGAAGGATTTCAGGGCTGACCAAGAAAAAAGATATGGCTGTGAGGTGGCTTTATTTGGACACTTTGACAGGTTTGCACCTGGGAGAAGTCCCAAATAGCATGAGACCTTCCAGAGGGGTAGGTGAGTAAGGGGAAGACAGCAAGTAAACTCTGGGAAAGAAGGATCAGAGAAGGAGTCTAGGTGATGTCACTCAACAGCCAGTGGCAGGAATCTCTGGGTCAGAGAGCTCTAAAGGCCAGCATCAGCCTGGGGTCTGTATGGCCCCAGGGTATATCTTGTCCTACTTATACTATGGCTAGCAGATTTTGGCTGCAGTTTTACAGGCTATGCAAAGCAGGCAAGCTCTAAATAGCTAAAAATCTGCTTATTTGGGGGCTATGTTTAAAACAACTAGATGTGTCAAAATTTGGGTTTGGCACTGGTAGGCTTTTGAGCTAATGAGACCCAGCCCCAGCCTGCTGTGAAGAAATAAACAACCTAGGGGCCAAAATACAGAAGCTATCGTTGGCTCATTTATATAACAATAGAGAAGCAAAGCTTTTCTCAGTGTTGCTTGATGGTTTGAATTGGTATCAAATTAATGTCTCAGGCATTTTGCTAATATCTTGCTTGCTCTAACCATTATCAGCCCAGACATTAAAATAGTGACATGTACCTTGAAGACACATACTTCCTCAAATATATACATGTAACGTTTAGCATGATGCTATGGGGAACAGGATGAGCAACATTTTTTTTTTTTGAGAGAAAATTGCTAGTTGACTGATTAATGACTAAATACAAAGGTGACAGGGGCCAAAGGGACACTCCACAAAGCAGTTTTTCCTATCTCAGCTGCTATTCAGGGAAGTGTGGACTGCTATGTTGGGTGGGCCTGTAAAATGCACTCTGGTAGTGACTCTTGGCTCTGAATCCTAAAAGCAAGCCTAAGGAGCTGGGATGGTTCCAGACGCCTATAAAAATATCATACTAGGGACCTGTTAACTTATTGCACAGAGAGGCTGAAAGAAACAGTGGTAAACATTATGACGGGGATTGGTAAAAATCTATAAACTATCAATATAAGATACAAGCAGCTAAATTCAATATATCAGTGCTCAAACAGTTGTACAATCTCCTGGGAGGTCCATGACCTCTGCTTGCTCAGTGTCCTCACCTCGCATCTGTATCCACCAATGAAGTCACTGCATGTTGCCCCGTGCTGGCAGGGGTTGGACGCACACTCATCGAGTTGCTCCTCACAGTAGCTCCCAGTATAGCCCAGGGGGCACTGACAGTAATGCGTGTTGCCAGCATTGATGCAGACACCTGAGTGCTGGCACAAGTGTTCAACAAGCACACCTGGGAAACCCAGTGAGGGAGAAATGTCATAGAAGAACATGTGACACATGGGGTTCAAATCAACCAATGAGCAAGTAAATCTAAACTGGCTGACACATCCAATCTTATTCTTAGCCAGTTCTTCACAACCCTCAGTACCAGATGCATATTAAAAATAAACCCTGAAAGTGGAATATACCTTAGTTTCATTTCAAATA
|
GATTAACAGCATATTTCTCATTAAAAACCATGGATATCAGAAAGCAGTGGGATGATATATTCAAAGTGCTGAAAGAAAAAGACTGTCAATGATAATATCAAAACTAGTATTCTAAGCCATCTTTACCATATGGTTAGAAGAGACAAAAATTTTGTTTCCTTCTGAAATGATCCATTCTAGGACTGGACATGTCTTATTAATTAAAAGTTCATGGTATAGTAGTGATTTTAGAGTTTGATGAATACTCATGTACTCTCCTATATTTCCCAGCCTCCCTTGAAGTCACAGAGACCATTTAATAATTCCGGTCAATATACTGCGAGGGATAGTGATATGTGTTGCTTCCAGACTGAGCTAGTGGAAGCTGCTGTATGACCCTTCAAGTCTGTCCCTCTTCCCTGTACTGTGGAGGCCTTGGAGGCCAGGTGTTTCAAACCACATATCTAAAACACAGAGAAAGGTAGCCCAACACATATTCGACTTTATTTGAGTGACAAAATCAGTGTTATATTAAGCTCTGAGATTTGAGGTTTAATTAGCTGCTATAGCTTGAAGTTTGACTGCACCAAACCACATGTTAAAATGTGATCTCCAATGTTGGAGGTGGGGCCTAATGGGAGGTGTTTGGGTCCCTGGATCTTCTTCACTTTTCACCATGAGTGGAAACAGCCTGACGCTCACACCAGAGGCAGATGCTGGCACCGTGCTTCCTGTACAGCCTATAGAACTGCGAGCCAAATATACCTCTTTCGAAAAATAAATTACTTAGTCTCAGGTATTCTTTTATAGCAACATAAATGAACTACGATAACAGCTATCACCAGAATCGTAGCTTGTCCTAACCAGTACAGTTTCTCAAAGGAACAAACTAACAATGAACTGGAATTAATTTCTACTCAACCACTGATTTCTAGAATAAAGAACAATTCTCCTTTTTACAGGACAATTCTTCAAATACTTAAAGACTGTTTCTCCTTAGTTTTCTTCTTCCCATTAACCTCATTCCTTAATAATCAGCCTACTACTAGGGTACTCTCCTATTTTAATTTAGTCAAACTCTGATACCTGGGGTGGCAAATTATCAAACTTTACTGACACAAAGCTCTAAGGCAATACAAATACTTCTCTGGCATTCTATTCTCTTTGACACTAACAAGGATGAATTTCTCACCAGTGTGGATGGCCTTTTACATTTTTTTCACAGCCTTCTCAGAGTAGGCCCCAGCATAACTACATCCCTTCTAACAAACAATACTCAAAGCTCTTTCCAAGGGATGGTTCAAAAGCAGTGTCAATGTCCACAGCAGAATGATGGCCATACCACTCAGTTCAAAAGCAGTGGCAATGCCCACAGAAGAATGATGGCCCCATCACTCAACAGTCCAGGGTTGCATCTCTCATCAGGCCTTACTGCATCCTAAGGTAGAACCTTACACCATCAGTATCCTCCCCTGAAGCTATGAAAATAGGCAGATATTTTCATTTCATTCATTCCCCCACCTTATAGAGGTAAGACTTGGCTAATTAAAAAAATACAAAAGCAGGTAAATGTAAATTGTTTATTTTAGAGGCCATTAGTTGCTTTTCTGTGAAGCAACAAGAAATCTTACTGACCAGGCTAATTTTTTAATGTTATGCTAATGTTGTATCCCTTCCATATTCTGTGTTTCATGGAATATCAAGATGCCAAACAACCAGATAAAACTGACAACATAAACCACAACATCAGAGCTAGCAAGAGATGGGAGAATAAAATGGCTTGAATTACTAGGATGTAGAACTAAATGCTTGGAATGAAGCTAGTCTTCCTATCTTTAATTTTATAAAATCCCCTGAACACTAAGAATGGATTTATAACTTAAGACAATGCCCTGGATGGAAAATGGATAAGGATGATTTCATACCCCGAGTGCCTGGTGGGCAAGAGCACTTGAAATGGTTCACAAGGTCAATACAGGTGCCTCCATTCTGGCAGGGCTGATTCTGGCACTCATCCACTTCATACTCACAGTTGACACCCTGATAGCCTGGGACACACTGCCATGAGGAAAAAAGGACAAGAAATATTGGACCATTACTGGAAACAGACCATGAGAGCTAGTGAGATCTGGAACATTTCTGTGACTGTCTCCCACCTCCTAATTTAGCTTTTGTATGTTTTCTCTGGAACCATCACACTCTCTGCTAATCATTCTATGCAGGGACAGAAAACCTGCAGCTTACTGGCATTTACCTACTCCTCTTTCAGTTGAAAAAGGCACTTTAAAGGGAAGGCAAGGACTGAATACAATGAAGGATGTTTCAGATTTGACTTGTGTGCAAACCTTTTGTTCCTCCTGGGTACAGGTTTCCTCATCTTTAAAATACACATTCCTCCGTATGTGATGAGGACCCTATGACTCGGTCAAAAGGCATATGTGGATGGTAGTACAGACATGCAATTATTGATCTCCAGGTTTAGGAAATTGGATCTATGTGTGAGAAACTGGTTGAGATAGGCTTAGGGGTAGAGGGAGGTGGGGCTGGCTGGCTGGCTGTGGTGGCTGTAGGGGTTGGAAGGATTTCAGGGCTGACCAAGAAAAAAGATATGGCTGTGAGGTGGCTTTATTTGGACACTTTGACAGGTTTGCACCTGGGAGAAGTCCCAAATAGCATGAGACCTTCCAGAGGGGTAGGTGAGTAAGGGGAAGACAGCAAGTAAACTCTGGGAAAGAAGGATCAGAGAAGGAGTCTAGGTGATGTCACTCAACAGCCAGTGGCAGGAATCTCTGGGTCAGAGAGCTCTAAAGGCCAGCATCAGCCTGGGGTCTGTATGGCCCCAGGGTATATCTTGTCCTACTTATACTATGGCTAGCAGATTTTGGCTGCAGTTTTACAGGCTATGCAAAGCAGGCAAGCTCTAAATAGCTAAAAATCTGCTTATTTGGGGGCTATGTTTAAAACAACTAGATGTGTCAAAATTTGGGTTTGGCACTGGTAGGCTTTTGAGCTAATGAGACCCAGCCCCAGCCTGCTGTGAAGAAATAAACAACCTAGGGGCCAAAATACAGAAGCTATCGTTGGCTCATTTATATAACAATAGAGAAGCAAAGCTTTTCTCAGTGTTGCTTGATGGTTTGAATTGGTATCAAATTAATGTCTCAGGCATTTTGCTAATATCTTGCTTGCTCTAACCATTATCAGCCCAGACATTAAAATAGTGACATGTACCTTGAAGACACATACTTCCTCAAATATATACATGTAACGTTTAGCATGATGCTATGGGGAACAGGATGAGCAACATTTTTTTTTTTTGAGAGAAAATTGCTAGTTGACTGATTAATGACTAAATACAAAGGTGACAGGGGCCAAAGGGACACTCCACAAAGCAGTTTTTCCTATCTCAGCTGCTATTCAGGGAAGTGTGGACTGCTATGTTGGGTGGGCCTGTAAAATGCACTCTGGTAGTGACTCTTGGCTCTGAATCCTAAAAGCAAGCCTAAGGAGCTGGGATGGTTCCAGACGCCTATAAAAATATCATACTAGGGACCTGTTAACTTATTGCACAGAGAGGCTGAAAGAAACAGTGGTAAACATTATGACGGGGATTGGTAAAAATCTATAAACTATCAATATAAGATACAAGCAGCTAAATTCAATATATCAGTGCTCAAACAGTTGTACAATCTCCTGGGAGGTCCATGACCTCTGCTTGCTCAGTGTCCTCACCTCGCATCTGTATCCACCAATGAAGTCACTGCATGTTGCCCCGTGCTGGCAGGGGTTGGACGCACACTCATCGAGTTGCTCCTCACAGTAGCTCCCAGTATAGCCCAGGGGGCACTGACAGTAATGCGTGTTGCCAGCATTGATGCAGACACCTGAGTGCTGGCACAAGTGTTCAACAAGCACACCTGGGAAACCCAGTGAGGGAGAAATGTCATAGAAGAACATGTGACACATGGGGTTCAAATCAACCAATGAGCAAGTAAATCTAAACTGGCTGACACATCCAATCTTATTCTTAGCCAGTTCTTCACAACCCTCAGTACCAGATGCATATTAAAAATAAACCCTGAAAGTGGAATATACCTTAGTTTCATTTCAAATANNN
|
benign
| 14,009 |
Variant on chromosome 1, at position 120069388, affecting NOTCH2 (notch receptor 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
ACACTCAACTTGACTACCTAAAAGCTAGCTAATAATCGCAGCACCTCAGCAGAGCAGAGGTGGAGGGCATAGTTTTATGCACTGAGATCCTATAATAAAAGAAGCCCTATGTGTCAGAGTAATCCCATTTCTGATATCATATTATTTAATACTTAATTTTTCAAATCACTTTACAATTATATTTATTATTCCCTACAATTCTCTAAAGCAGGTTATTCCTTTAGTCCTGCTTCATAGGTGAGGAGACTACATATCATGAAGATTAAGTTATTTACCAAAACAAGTTAATGATAGACCAAGGATTATTACCCTCAGACTGTCTCATTGATCATACTCCTCTCTATCCTAAAGCTACACTTAAAGCTTTCACTCAAAGAAAAAGGAAAAGCAAAAACACCATCATATATGCTCTTTATTAAATGCTTCAGAAACAACGGCTCTGCTTCATCACTACAAAGCCTCCTGGTCCACTTCTGAAATTCTTAGTGACCTAGACGTGTACGAAATTTGAACTTTCCAAGAAGTATCTAGTTGGTGCTGAACAACCCAGTACTATTTTCGGGTGATAAATAACCTTGTTCTCTTTTTAAACATCTGCGATTGACATGTCGACTGACTGTTAACAATGAACAAAGACCATATTTTTCTGAAGCTCATCATCTTCCTAACCTTTTCTTTGAAAACAGATGTAGTTCATGTACTAGTTTTTTGGTGAAGGTAAAAATCTTTATTCAGATTAGGCTCAGAAAAAGAAGGGGCTGCTTTCCGTTCAACAAATATGCACAAGACAGCATCCCACTGGGAGCATCAATCTCAGAAGCAGTAAAACACAGCCTCGGCCCTGAAAGGACTTTCTGAACACCTTTGGAGTGTCATCCGTTTAATATACATTATTTTAATTAATCCTATTAGCTGGATAATTTCTTTCCCATTTTATTGGTGAGTTCATATAGCAGAGCTGGATTTGAATCCAGGATTACAGAGCAGGGCTCCAAAGCCCAAGTTATTTCCACTAAAGGGTCTGAAGAAATGTAGAATCTAAAAGTGTGGGTGGGATGGGGAAGATATGATTTGATTCCCTTTCCTTGGTCCAACCGTGTTAGAAACATCCAACCATAAAGAAGCTTTCTAAGGAAGCCCTTTGAATTAACGTATCCACTTTTTCTCACCCGCCCGTGCCCCACCCCCAGCCATGCCAAAGGAGCAGCAAATGCTGCTGCCAGGTTGGAGGAATTGGTGATCGTCACACCACATTCCTGGGTCTGGACACAGCCTGAAACAGCAGCAGAGCTCCGCGCCTCGGAAAGAATAACAGCAGTTGAGATTTTTAAATCATGTGCCTCAGCATGCAGCCACACCAGTTGCCCTACTTCTCCTGCCTCCACCTTTCAAAGACGCGAGCAGCACACACGGCTCCCCCGGACTTTCGGTGGGGTTGGAGTGTCAAAACTCAGGCGCGCCGCAAAACCCCGTCCCCATCCAAACCAAGCCCACACACCCGGCCCATGTGCCGCCCCCTGGCAAAGGCGAGGCTGGCTGCGACGGTGCAGGCCGTTTGGCTTGGCGGCCCTGCCCCCGCTCTCCACGCCAGAATCTGGCATTCCTTCGCTCAGCCCCTCCGAGGCCCGCCGTCGGCTCTCGCTCGACCCCAAGAAACGCGGAACCTGAAGGGCAAAACTGCCCACCTCCCTGCACCCTGGCACTACGAAAAAGGAGTTTCTGAGACTTGCTGCCGGCCTCCCTCCTGCCGAGGAGGCGTGTAAGGGGTCCCGGGCCGCGGGGAGCAGAGGCGGCGGGGAACCCCGGCGGTTGGCGGGGCACCACGGGAGGGGCCCCCGGCGATGTCCAAACTCTTGGGAACCCAGCGAGTGGCCTCGCTCCGCGCCGGCGGCCGAGCCTGGCCTTCCCACACAGAGAAGGACCGAGGGGGAGAAGGGTCGCCCCAGGTGGCAGCCCCGGGCGCCGCGGACAGCGCCCCTCAGCCCGATACTCACCATGCGCGGGGGCCGCGCAGCACAGCCAGAGCGCCAGCAGCGCCCACAGCAGAGCGGGGCGCAGGGCGGGCATCTTCTCGGTCGCCTCCTCCTCCGCCGCCGCCGCCGCCGCCTGGGCAGATCCACATGGGGAGGGGGTCCCGATAGAGGAGCCCCACTCTCTCCTCCCCTCCTCCTGCTTCAAAGGCTCAGGCCCTGGCGCTACGCTCCGAAGCCCAGGCGCAAATGCCTCGACTCCCCGCGCCCCGAGTCCGCCGCTCCTCGGCCGCCGCCTCAGCCGCCGCCCGAAGTTTGGCTGAAACTTTCTCGGGTGTGCAACGAAGCAGCCTCGTGTGTCCTTCCGCCTCAGCCGCCTCCTCCCACCGCAAGCCCCGCCCCACTGTCGCCGCGGCCTCGGCCCCGCCGCCTTGGGCACCCAGGGGTTTCCCGCAGGAAGAAGCGCCGGCCCGAGCTCCGCGCGGAGGGATCTACTACGAGTCACTGGCCCCGTCCGCATCCTTCTCCAGCGGCCCCGGGGGCCGCCGCGCCTTAACTCGATCAGGGCTGCAGCGGCTCGCTGGCTTGACCAGTGCAGAAGGGGCGTGGGGGTGAGGGGGGTGGGGTAGGACTCTGAACTTCAAGCACTGGAGTTTGCCGGGATCGTGAACTTGCAGGGAGAGGCGGTCCTCATCCAGTGAGGTCTGTATCGCCACCTACACCCACACATCCACACACTGCTTTGCTAGCTAGAGGAATGCTCTGGAGTAGGACCAGTGCTGTCAAAGAAGGAAAGTGGGCCAAGGCGCCAAAGTCCATTAAAAAGGAATAGAGCCATCACGGAGTGGTGCTGCCCCATTCATTCATTCATTTGTTCATCCGTGTAGCGAATATTTCTTAAGTGCCTTACTTTGCGTAGCTGTGTGCTTGGCAGTGGGATGATACCAAAGATGCACAAGCAACTTTGAGTACCAAGACTTTGCCGCTGTGGGCTGGGGGATTCAGGGAAGGCTTTCCCAGAGGAGCTGGGATGAAAGCAGGATCTTGAAAGGTCAGTAAAATTTGTATAAGACAAGGAGACCAGCTAAGCTAAGGATATTCGTTGTAACACTGTAATAGCAAAACCTTGAAAACAACATAAATGCCCACCCTTAGAGGAATGGATGAATAATGTATGGTATATTTATAAAATGAAATGCAACACAGTAATTGAAAAGACTATAGCTATTTATGTCAATAGGGATAAATCTTAAAAACTAAATGATAGTGAAAAAACTAATCACAGAGGGAGACAAAGTATACCATTTATGTATATTTTTTTCAAGACAATACTACACATTATCTGTGGATGCATATATATAGATATAGATATTAAGAGACTATAACCAGAATAGTAGTTACTTCCAGGGCAGGAGAGTAGGGGGTGTGATCAAACCTGGGTACAAGTGGGCTTCTAAGAAAAGAGCTAAAAGTAAGAACAGCAACAATAGTTGTATGGACATATCATTCCAGGAAAGAGCCCTCGTGAAAGCAAAGGTACAGTCAAAAGAGTAAGTAAATGAGTTCTGTCTCTGTTAGCAGTGAGAGGAGTCAAGGACGGAAAGGGGGTTGGGACCAAATTATGCAGCCTTGAATGGCAAGCTGAAAGGGTGGGGAGGCAGCTACCTCTTAGGTCACATAAAACTATTGAAAGTTTTTGAACAGAGTTGAGATTGATGGAAAGGAAGATTGCTCTGATAATTCTGTAGAAAATTGATTGTTGGGGGAGCAAGAGGTGAACTGGAGCCCCAGGACCAGTCAAGAGTTGGTGAACAGTCCAGGCACAAATTTAAGAAGACCTGAACTAATAAGGTAGATTTCAGAAGGAATGAATCCGAGACAATGTTAAAGAAACAGAAAAAAAAAATGGAGGTGTGACTAATTGGATGTGGGAGTTTACAATCCTGTTGGGATGGGAAATCCTACCCATAGAACCTCTCCCTGACTCCTATAGGATAAAATTCAAACTTCTAAACATGGTACATACAAGGCCTTTTCGTCATTGGGCCCCATCTCCTGTCCTCCCTGCCCCTGTTGTGAACTTCACACAATAACAGTATTGACTAACTTGAGATTCCCCCAAACAT
|
ACACTCAACTTGACTACCTAAAAGCTAGCTAATAATCGCAGCACCTCAGCAGAGCAGAGGTGGAGGGCATAGTTTTATGCACTGAGATCCTATAATAAAAGAAGCCCTATGTGTCAGAGTAATCCCATTTCTGATATCATATTATTTAATACTTAATTTTTCAAATCACTTTACAATTATATTTATTATTCCCTACAATTCTCTAAAGCAGGTTATTCCTTTAGTCCTGCTTCATAGGTGAGGAGACTACATATCATGAAGATTAAGTTATTTACCAAAACAAGTTAATGATAGACCAAGGATTATTACCCTCAGACTGTCTCATTGATCATACTCCTCTCTATCCTAAAGCTACACTTAAAGCTTTCACTCAAAGAAAAAGGAAAAGCAAAAACACCATCATATATGCTCTTTATTAAATGCTTCAGAAACAACGGCTCTGCTTCATCACTACAAAGCCTCCTGGTCCACTTCTGAAATTCTTAGTGACCTAGACGTGTACGAAATTTGAACTTTCCAAGAAGTATCTAGTTGGTGCTGAACAACCCAGTACTATTTTCGGGTGATAAATAACCTTGTTCTCTTTTTAAACATCTGCGATTGACATGTCGACTGACTGTTAACAATGAACAAAGACCATATTTTTCTGAAGCTCATCATCTTCCTAACCTTTTCTTTGAAAACAGATGTAGTTCATGTACTAGTTTTTTGGTGAAGGTAAAAATCTTTATTCAGATTAGGCTCAGAAAAAGAAGGGGCTGCTTTCCGTTCAACAAATATGCACAAGACAGCATCCCACTGGGAGCATCAATCTCAGAAGCAGTAAAACACAGCCTCGGCCCTGAAAGGACTTTCTGAACACCTTTGGAGTGTCATCCGTTTAATATACATTATTTTAATTAATCCTATTAGCTGGATAATTTCTTTCCCATTTTATTGGTGAGTTCATATAGCAGAGCTGGATTTGAATCCAGGATTACAGAGCAGGGCTCCAAAGCCCAAGTTATTTCCACTAAAGGGTCTGAAGAAATGTAGAATCTAAAAGTGTGGGTGGGATGGGGAAGATATGATTTGATTCCCTTTCCTTGGTCCAACCGTGTTAGAAACATCCAACCATAAAGAAGCTTTCTAAGGAAGCCCTTTGAATTAACGTATCCACTTTTTCTCACCCGCCCGTGCCCCACCCCCAGCCATGCCAAAGGAGCAGCAAATGCTGCTGCCAGGTTGGAGGAATTGGTGATCGTCACACCACATTCCTGGGTCTGGACACAGCCTGAAACAGCAGCAGAGCTCCGCGCCTCGGAAAGAATAACAGCAGTTGAGATTTTTAAATCATGTGCCTCAGCATGCAGCCACACCAGTTGCCCTACTTCTCCTGCCTCCACCTTTCAAAGACGCGAGCAGCACACACGGCTCCCCCGGACTTTCGGTGGGGTTGGAGTGTCAAAACTCAGGCGCGCCGCAAAACCCCGTCCCCATCCAAACCAAGCCCACACACCCGGCCCATGTGCCGCCCCCTGGCAAAGGCGAGGCTGGCTGCGACGGTGCAGGCCGTTTGGCTTGGCGGCCCTGCCCCCGCTCTCCACGCCAGAATCTGGCATTCCTTCGCTCAGCCCCTCCGAGGCCCGCCGTCGGCTCTCGCTCGACCCCAAGAAACGCGGAACCTGAAGGGCAAAACTGCCCACCTCCCTGCACCCTGGCACTACGAAAAAGGAGTTTCTGAGACTTGCTGCCGGCCTCCCTCCTGCCGAGGAGGCGTGTAAGGGGTCCCGGGCCGCGGGGAGCAGAGGCGGCGGGGAACCCCGGCGGTTGGCGGGGCACCACGGGAGGGGCCCCCGGCGATGTCCAAACTCTTGGGAACCCAGCGAGTGGCCTCGCTCCGCGCCGGCGGCCGAGCCTGGCCTTCCCACACAGAGAAGGACCGAGGGGGAGAAGGGTCGCCCCAGGTGGCAGCCCCGGGCGCCGCGGACAGCGCCCCTCAGCCCGATACTCACCATGCGCGGGGGCCGCGCAGCACAGCCAGAGCGCCAGCAGCGCCCACAGCAGAGCGGCGCAGGGCGGGCATCTTCTCGGTCGCCTCCTCCTCCGCCGCCGCCGCCGCCGCCTGGGCAGATCCACATGGGGAGGGGGTCCCGATAGAGGAGCCCCACTCTCTCCTCCCCTCCTCCTGCTTCAAAGGCTCAGGCCCTGGCGCTACGCTCCGAAGCCCAGGCGCAAATGCCTCGACTCCCCGCGCCCCGAGTCCGCCGCTCCTCGGCCGCCGCCTCAGCCGCCGCCCGAAGTTTGGCTGAAACTTTCTCGGGTGTGCAACGAAGCAGCCTCGTGTGTCCTTCCGCCTCAGCCGCCTCCTCCCACCGCAAGCCCCGCCCCACTGTCGCCGCGGCCTCGGCCCCGCCGCCTTGGGCACCCAGGGGTTTCCCGCAGGAAGAAGCGCCGGCCCGAGCTCCGCGCGGAGGGATCTACTACGAGTCACTGGCCCCGTCCGCATCCTTCTCCAGCGGCCCCGGGGGCCGCCGCGCCTTAACTCGATCAGGGCTGCAGCGGCTCGCTGGCTTGACCAGTGCAGAAGGGGCGTGGGGGTGAGGGGGGTGGGGTAGGACTCTGAACTTCAAGCACTGGAGTTTGCCGGGATCGTGAACTTGCAGGGAGAGGCGGTCCTCATCCAGTGAGGTCTGTATCGCCACCTACACCCACACATCCACACACTGCTTTGCTAGCTAGAGGAATGCTCTGGAGTAGGACCAGTGCTGTCAAAGAAGGAAAGTGGGCCAAGGCGCCAAAGTCCATTAAAAAGGAATAGAGCCATCACGGAGTGGTGCTGCCCCATTCATTCATTCATTTGTTCATCCGTGTAGCGAATATTTCTTAAGTGCCTTACTTTGCGTAGCTGTGTGCTTGGCAGTGGGATGATACCAAAGATGCACAAGCAACTTTGAGTACCAAGACTTTGCCGCTGTGGGCTGGGGGATTCAGGGAAGGCTTTCCCAGAGGAGCTGGGATGAAAGCAGGATCTTGAAAGGTCAGTAAAATTTGTATAAGACAAGGAGACCAGCTAAGCTAAGGATATTCGTTGTAACACTGTAATAGCAAAACCTTGAAAACAACATAAATGCCCACCCTTAGAGGAATGGATGAATAATGTATGGTATATTTATAAAATGAAATGCAACACAGTAATTGAAAAGACTATAGCTATTTATGTCAATAGGGATAAATCTTAAAAACTAAATGATAGTGAAAAAACTAATCACAGAGGGAGACAAAGTATACCATTTATGTATATTTTTTTCAAGACAATACTACACATTATCTGTGGATGCATATATATAGATATAGATATTAAGAGACTATAACCAGAATAGTAGTTACTTCCAGGGCAGGAGAGTAGGGGGTGTGATCAAACCTGGGTACAAGTGGGCTTCTAAGAAAAGAGCTAAAAGTAAGAACAGCAACAATAGTTGTATGGACATATCATTCCAGGAAAGAGCCCTCGTGAAAGCAAAGGTACAGTCAAAAGAGTAAGTAAATGAGTTCTGTCTCTGTTAGCAGTGAGAGGAGTCAAGGACGGAAAGGGGGTTGGGACCAAATTATGCAGCCTTGAATGGCAAGCTGAAAGGGTGGGGAGGCAGCTACCTCTTAGGTCACATAAAACTATTGAAAGTTTTTGAACAGAGTTGAGATTGATGGAAAGGAAGATTGCTCTGATAATTCTGTAGAAAATTGATTGTTGGGGGAGCAAGAGGTGAACTGGAGCCCCAGGACCAGTCAAGAGTTGGTGAACAGTCCAGGCACAAATTTAAGAAGACCTGAACTAATAAGGTAGATTTCAGAAGGAATGAATCCGAGACAATGTTAAAGAAACAGAAAAAAAAAATGGAGGTGTGACTAATTGGATGTGGGAGTTTACAATCCTGTTGGGATGGGAAATCCTACCCATAGAACCTCTCCCTGACTCCTATAGGATAAAATTCAAACTTCTAAACATGGTACATACAAGGCCTTTTCGTCATTGGGCCCCATCTCCTGTCCTCCCTGCCCCTGTTGTGAACTTCACACAATAACAGTATTGACTAACTTGAGATTCCCCCAAACATNN
|
benign
| 14,070 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 146018372, gene HJV (hemojuvelin BMP co-receptor): what disease(s) if pathogenic?
|
pathogenic; ['Hemochromatosis_type_2A']
|
TTGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGCTCTGCCATTTGTTAACTGTGTGACTGGAGGCAAGTTCCATAATTTGTTAGCTGTGTGACTGGAGGCAAGTTTCCTTATATAAAAATAGAGATAAGAATACCACCTTCCTTAGAGAGCTATGAGAATTAAGTCAATGTTTTAAAAGTGTTTAAAACATTGCCTGGCAGATTTTAAGCTTCAATAAGTGTTAGATATTAATCAAATTTAAACCCCTTACCCCCTTTTTAAGGTGCTTCATAATCTGGCCTCTGCCCATCTAACCTTCTGTCCCATTACTCCTTGTCTACTGCATTTGAGTTTTGCTCATTTCCTTGCTGAATCATGAATCCATGCATAACTCCAGATGGTTTTCATTGCCTGGAAGATCGTTAACAATTTGAATCTTACCCAGTCTTCAAAGCTCACTTCAAATCCCATCTTCTCTGTTACCTTTTATTATTCTTATTACTTTAGTTCAAATCTACCATCTTCCCATCTGAATGTACCATACTGTAGGATTTAGTGAATAATTACACACTCATCACTCTTTCATGTGAATTGGTTTTGTCTCTCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAAC
|
TTGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGCTCTGCCATTTGTTAACTGTGTGACTGGAGGCAAGTTCCATAATTTGTTAGCTGTGTGACTGGAGGCAAGTTTCCTTATATAAAAATAGAGATAAGAATACCACCTTCCTTAGAGAGCTATGAGAATTAAGTCAATGTTTTAAAAGTGTTTAAAACATTGCCTGGCAGATTTTAAGCTTCAATAAGTGTTAGATATTAATCAAATTTAAACCCCTTACCCCCTTTTTAAGGTGCTTCATAATCTGGCCTCTGCCCATCTAACCTTCTGTCCCATTACTCCTTGTCTACTGCATTTGAGTTTTGCTCATTTCCTTGCTGAATCATGAATCCATGCATAACTCCAGATGGTTTTCATTGCCTGGAAGATCGTTAACAATTTGAATCTTACCCAGTCTTCAAAGCTCACTTCAAATCCCATCTTCTCTGTTACCTTTTATTATTCTTATTACTTTAGTTCAAATCTACCATCTTCCCATCTGAATGTACCATACTGTAGGATTTAGTGAATAATTACACACTCATCACTCTTTCATGTGAATTGGTTTTGTCTCTCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACNN
|
pathogenic
| 14,108 |
Assess the variant on chromosome 1, position 146018397, impacting HJV (hemojuvelin BMP co-receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Hemochromatosis_type_2A']
|
GCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGCTCTGCCATTTGTTAACTGTGTGACTGGAGGCAAGTTCCATAATTTGTTAGCTGTGTGACTGGAGGCAAGTTTCCTTATATAAAAATAGAGATAAGAATACCACCTTCCTTAGAGAGCTATGAGAATTAAGTCAATGTTTTAAAAGTGTTTAAAACATTGCCTGGCAGATTTTAAGCTTCAATAAGTGTTAGATATTAATCAAATTTAAACCCCTTACCCCCTTTTTAAGGTGCTTCATAATCTGGCCTCTGCCCATCTAACCTTCTGTCCCATTACTCCTTGTCTACTGCATTTGAGTTTTGCTCATTTCCTTGCTGAATCATGAATCCATGCATAACTCCAGATGGTTTTCATTGCCTGGAAGATCGTTAACAATTTGAATCTTACCCAGTCTTCAAAGCTCACTTCAAATCCCATCTTCTCTGTTACCTTTTATTATTCTTATTACTTTAGTTCAAATCTACCATCTTCCCATCTGAATGTACCATACTGTAGGATTTAGTGAATAATTACACACTCATCACTCTTTCATGTGAATTGGTTTTGTCTCTCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAG
|
GCTGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGCTCTGCCATTTGTTAACTGTGTGACTGGAGGCAAGTTCCATAATTTGTTAGCTGTGTGACTGGAGGCAAGTTTCCTTATATAAAAATAGAGATAAGAATACCACCTTCCTTAGAGAGCTATGAGAATTAAGTCAATGTTTTAAAAGTGTTTAAAACATTGCCTGGCAGATTTTAAGCTTCAATAAGTGTTAGATATTAATCAAATTTAAACCCCTTACCCCCTTTTTAAGGTGCTTCATAATCTGGCCTCTGCCCATCTAACCTTCTGTCCCATTACTCCTTGTCTACTGCATTTGAGTTTTGCTCATTTCCTTGCTGAATCATGAATCCATGCATAACTCCAGATGGTTTTCATTGCCTGGAAGATCGTTAACAATTTGAATCTTACCCAGTCTTCAAAGCTCACTTCAAATCCCATCTTCTCTGTTACCTTTTATTATTCTTATTACTTTAGTTCAAATCTACCATCTTCCCATCTGAATGTACCATACTGTAGGATTTAGTGAATAATTACACACTCATCACTCTTTCATGTGAATTGGTTTTGTCTCTCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGA
|
pathogenic
| 14,110 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 146019386, gene HJV (hemojuvelin BMP co-receptor): what disease(s) if pathogenic?
|
pathogenic; ['Hemochromatosis_type_2A']
|
TCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAAT
|
TCCAATAGCCTGTAAACTCCCTGAGATAGCAACAGTATCTGATACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATN
|
pathogenic
| 14,116 |
Evaluate this variant at chromosome 1, position 146019428, gene HJV (hemojuvelin BMP co-receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Hemochromatosis_type_2A']
|
TACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGA
|
TACTTCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGANNNNNNNNNNNNN
|
pathogenic
| 14,117 |
The chromosome 1, position 146019432 genetic variant in gene HJV (hemojuvelin BMP co-receptor): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Hemochromatosis_type_2A']
|
TCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGA
|
TCCGAGCCCTCTTTCAGTGGAGTGAACACATTGCATTTACTCCATTTCAAGCATCTGTAAAGAGATTCAACATAGGCAACAGAGGATGGTGTGAAGAATTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGAN
|
pathogenic
| 14,118 |
Is the variant located on chromosome 1 at position 146019611, gene HJV (hemojuvelin BMP co-receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Hemochromatosis_type_2A']
|
TCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTC
|
TCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCN
|
pathogenic
| 14,120 |
Does the variant on chromosome 1 at location 146019625 affecting gene HJV (hemojuvelin BMP co-receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
AGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCCAGCCAGGGGGTCC
|
AGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGAGCCCCACAGAGATCCGGAATGCAGTAACCTTGCCCAGAATCCTTATTCTGTGATAATTTCAACCCTGGACTGCAGCCTCATCTGACTCTGGATAATGTCATTGTTTCACGTGTCTCCTAGGCCCTGCTTCCTTTAATGATTCTTTACATTCTTCTATGCCAATCTGTATCTCCAAATCATTTCCAAACTAGTAATGGGACTGATGGTCCCCTTACTGAATGCAAAGCCACAGAACAAAGAGCCCAGAAAGGAGTGGAGCTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCCAGCCAGGGGG
|
benign
| 14,121 |
Variant at chromosome 1, position 146020172, gene HJV (hemojuvelin BMP co-receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Hemochromatosis_type_2A']
|
CTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCCAGCCAGGGGGTCCTCCGTGTCTCCCCCAGGTCCCCAGGCCGGCTGCTGTCTCACTGAGGTCAGGGAACCAGAGAAGGTTTGGTATGGGGGGAAGGGGGAGTATATGGCTGGCCAGAGTACTGGACAGCTGAGCAGGGAGGGAGGTGGCTACTGAGTTGACGGTTTTAAAAATAGCTAAGTCCAAAATTCCAGGAACGTTGGTGGGGGTAGGGTGTGGGAGTTGGGGGAGTGGGGAGGGTTAGAGGATTAGAAAGAATATGGAGTATTGAGTGCCAAGTCAGGGAGGGAGGAGAGAAATATGACAGACAAGTTGGATATCCAATTCCAGCTTGTGTGACTCTGTGGTCACTGCCTACTCCAGGCAGCCCTCCAGCATTTTCAATAATGTTGAGCTCCTGGCCTTTAAAAATTACAGTGGGCAATTGGATACCTTTCATTTACCATGTTCATCCCTGCTATGCTGAATATTACATTTAGGTTCTACAGATAGTATCTAGGAGGTAGCTGACTTTGAATAAGATCCATAGCAGAGGTAGTTCATAGCCCCTCTCCTATCTTTG
|
CTAAGAGGGTTGCTGAGGAAAGAGGAACCCCAGCATCTGAGGGGAAGAGATGCAGCTTCTCTAAGTCTGGCAGGAAGGCTCGGGCATCCTCCAGTGCTGCCTGAGCTGCCACGGTAAAGTTGGGATCACCAGAAATTAAAACATCAAAGACACAGGAATGGAAGTAAGCATCTTCCACTGGAAGCCCTTCCTTGCACAGCCGTCTGGCAGTATCAATGGTTATAGCTCCCCGACGATTGCGCTCTGATCGAGAGAGTCGCTGACTTGGAGGGCACCCCCCAACACAGAGCTGCAGGTCCTGTTCAGCTGAGAAGGCCATGGCCACATCCTCTGCTACCTTGATGGAGAAGGAGAGCTGCCCAGCTGTCTGCCGAATGATTATAGTTGTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGGGTTAGCAGTTTGAATCGACAAACTGGATCCCCCAGGTCGGTCACCTCCATTGATAGAACCATCTTCAAAGGCTACAGGAAGATTATCCACCTCAGCCTGATACACCTTCTGATCAATGCATTCCTGCATGTTCTTAAATATGATGGTGAGCTGTGAGGACAAGAGGGAAAACAGTTCATTTTGGGTTCAGTGCATCTTCCCCCCAATCAGACCTCATACATAGTTAGAGATCTGATCCAAGTAGAGATGCAGGACTACTATGGCCCTCAATCCTTGATCCCTTCTCCTATTTATGTTCCAGTATTACCTCATCCCTACTTAACCCCCTCTCTACTTAATCGTGGCAACTTCCTAGGAGAGGGAAAAGTTTCCCTTCTGAAACTCCTCAGGTCCGCCCTCTCCGACTGTCTCTTCAAGGTTTTCTGCATTTGAGTCAAATTCCCATCAAGGGGAAGTGATTTACAGCTCCAGGTGTTTGGTAGAAGGGAGTGATTCGAGATGGGGGAGAGGTTGAGGAAGAAAAGGGAATTAGGGAGCATTGCTGTTGAATAGTGGGGATGGGGAGGAATGGTGCCCGTGGAAGAATCTCATGAGGTGGATCGGAAGGAAGATTGAGTGCCTGACCTTCCGGGTGGCGGTAGCGTTGGCCCCCAACGCCATGGGGGAGCTGGTGGCTTGGACAAAGAGGAAGTCATTATCCAGTAGAGGCCAAGCTCCTTGGACACGGCATGTGTGAAAGTGATGGTGGAAGCTGCGCACATGGGGGTCCCCGAAGGAAGCGCAATGCAAGAACCCCGGGGGACGACCATGCAGCCGGGAAAACCGGCCTTCATAGTCACAAGGGTCCGGGGCAGGGAGGCCGGAGCCCGCGCCTGGAAGGGCGGGGCCCCGGGGCGGGGGAGGGGCTGTAGGGCCCTGGCGGGAGCAGTTGTGCTGGATCATCAGGTCTTCGATGCCATGTACCGCCGAATGGAAGGCGAGGTCCCCGCGGCAGGTGCGGGCGGTGCGCCGAGTGCAGAGCGCATAGGAGCGGAGGGCTCGACAGAGGCCGCCAGAGCCCACCCCTCCACCCCGGCCTCCTCCTCCTCCTCCTCGAAGTGCTCCTGATGAACCCCCACCTCTAAGGCTCAGAGTGGACGATACGTACTCAGCATTGCAGCGGAGGATCTTGCATTGAGAATGAGCTAAAGACAGAAGGGAGAGGATTGTGAGACGGTCCTCAGACCTCTGCTCTATCGGAGTGTAGTTTGCTCATAACTCTTCCAAATCTCATCAGGGGTTTCCAGCCTTCCTAAAACCTAACTAAGGGCCTTCCCCAGCCCCCAACCCCCTAGTCCCTAGTTCTCTCGGCTGTCTTACTAAAAGTGTGTAAGCCTGCCACATCTCTTCTGCCTGTCGACCAAGGGCTTCCCCAGTGGCCTTCCCCAGACTGAACGGGAAATAAAATATTAGTATTTGAGAGCAGGGCGAGTGATCGGGACTCTCAGCGCCTATCTCTCCTCACTCATTCAGGCTCACATGCCCACCCCTACATAGCAGCCTACCCTCTAGATTTCCCCAAACCCTTCCCTGGCCCTTCCTTACCATGTCCACAGAGGAGCAGCAGGAGAGTGAGAGTGCTTAAGAGTTGGGGGACTGCCATGGGAGGACCTGGGACTAGGGGACTGGCCTGGCTCCCCCATACCTATCCAGCCAGGTTTCCCAGGCGCCGGTTCTTCCCAGCTGATGACCCTCCTACCTAGTGAATTTTGACCGGAAGCCCTGTAAGTGACTGAAAAAAGAAATTTGGCTGGACATGGAGAGAGAGAAGAATTGAAGATTGGTAAGGATAATGTGGAGTGAATCTGGGGAGATCAAGAAAAGGATGAACAGACTGGAATTTGGGGAGATTGGAGTTCCTCAAACTATAAGTGTGGCAGTTAAGCCTCTTTGCCCTGTTCCTGTGGCCACTTTTAGGGCCCTTGTGCAATACCCCTAGGTGGGGGTGGAGGGAAGGTTGAGTGAACTCAAGGGGGCAGAGTCCACTGTATTGCTCCATTCTGAGCTACCAAACAGCAGGTATGTCAAAGATGGAGGAATCATGGGGCTAGATCAGATACCAGTAATCCTAGTGGGTACCCTAGTAAAATTAGGACCTGAAAATATTTCAGAAACATACTTCTTATTTGTCCCTCTCCATTAGGAGGAGATGCCCTCTAGGAGTCATACATTTCTTTTCCTCCTTTGTGTCAGAACACAAGAAGGATTAAGGGTGGCATACCCATCCCGTCTAGAATATCAGTATTCAAATGAAAAGGAAACCAATCTCTTTTCATCAGCTCTAGAGAGCTGCAATTTTAATCTCCCTCTCTCATGGAATAATGGGATGCAAACCAAACATGCAAATCAATATTTGTTTTTTCTAAGTCAACAGTTCTTGTATTTTCCCAAATATCACTCCTTCCATTAATCTCTTCTTTTCAAATTCTGAAGTTCTCAGTCTTTTATGATGACAGGAGTTGGAGAGGGGCTAAATCCCTCCTGCCTAACTCCCCTATCTTATGGGTAAGGATATGATTGGGGGAAGAGTCCTGCAAGAGGGAGAATAGAATGGAGGGACTAGAGTTGTGGGGAGAAATCATTTACAGGGAGCAGCCCCCATGCTTGGAATCTCAATGTGAAGGGCATTGCTAAGTGGGGGCAGGATAGAAGGGTATCAGTGACTCATCATCTGAGGTCATATTTGGCCTTGGTAAGAAAACTACAGAATAGAGGACGTAGGGAACTCCTTCTAAAACTTCATCAGGAGTCTTGAGGTAATAAGGTAAAGAGAGGGCTAAGACTGCCAGAGGAGAGACAGAGAATTAAACTTCAAAAAGCTAGAGGCCAGAGGCCAGAAAGAAATAAGACAGAAAGAGAAATGGAGATTGGGGCACCTTGGTAGGGAGAGATCCCAGCATTTGGACGAGAGACATCCAAGTAGGTGTTTGTAATTTTATAAAAGTCTAACTTCAATATAAAAGCTTATTAAAGGAATTGCAATTTCATTTTGACTTACTGTTTCCAGAGGTCAAACATTACTCTGCTATCCAATTCTCCAGCCATGATTCCCTACTCTGTGGGTCAGCTCCAGCCAGGGGGTCCTCCGTGTCTCCCCCAGGTCCCCAGGCCGGCTGCTGTCTCACTGAGGTCAGGGAACCAGAGAAGGTTTGGTATGGGGGGAAGGGGGAGTATATGGCTGGCCAGAGTACTGGACAGCTGAGCAGGGAGGGAGGTGGCTACTGAGTTGACGGTTTTAAAAATAGCTAAGTCCAAAATTCCAGGAACGTTGGTGGGGGTAGGGTGTGGGAGTTGGGGGAGTGGGGAGGGTTAGAGGATTAGAAAGAATATGGAGTATTGAGTGCCAAGTCAGGGAGGGAGGAGAGAAATATGACAGACAAGTTGGATATCCAATTCCAGCTTGTGTGACTCTGTGGTCACTGCCTACTCCAGGCAGCCCTCCAGCATTTTCAATAATGTTGAGCTCCTGGCCTTTAAAAATTACAGTGGGCAATTGGATACCTTTCATTTACCATGTTCATCCCTGCTATGCTGAATATTACATTTAGGTTCTACAGATAGTATCTAGGAGGTAGCTGACTTTGAATAAGATCCATAGCAGAGGTAGTTCATAGCCCCTCTCCTATCTTT
|
pathogenic
| 14,125 |
For chromosome 1, position 147909270, gene GJA8 (gap junction protein alpha 8): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
ACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCCAAAGTGGAGTCTCAGGCCAAGCTTCATCCCTGGAAAGGACACAGAGGCTAAAGGGAACAAGAAGAATCTTGAAGGGCTCCTGTCCTCATATTCCCACAACTCACCCTCCTCAAACACAGAGTCTGTTCAGGGGAAATCCTCATGTACACGTACATATTTCATACCAGGAGCAATTTTACCCTCAGCCAATTGATTTCCAGAGCAAGGAGAGAAAACTAAGATGGTTCACCTAAAGCAACACTATGCTTCATGGACTGCAGTGCCAAAGATAGGGTAGGAGGTATAGAAACCAAGTTGACATAGCAGGGACCTGGACAGGAGACCAGCAAGGGGCCCAAAAGGGATACTTAGAAAAACTGCGTTTGTTGTATCTTCCCAACCCCGATCAGCATCATCTCAAAGTATATCAATCCCCTTTGCTGCCCTCTGGTTACCACCTTCCTTTTAAGATATTCATTCAAGATATACCTTTCCAAAGCAGGCCTTTT
|
ACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCCAAAGTGGAGTCTCAGGCCAAGCTTCATCCCTGGAAAGGACACAGAGGCTAAAGGGAACAAGAAGAATCTTGAAGGGCTCCTGTCCTCATATTCCCACAACTCACCCTCCTCAAACACAGAGTCTGTTCAGGGGAAATCCTCATGTACACGTACATATTTCATACCAGGAGCAATTTTACCCTCAGCCAATTGATTTCCAGAGCAAGGAGAGAAAACTAAGATGGTTCACCTAAAGCAACACTATGCTTCATGGACTGCAGTGCCAAAGATAGGGTAGGAGGTATAGAAACCAAGTTGACATAGCAGGGACCTGGACAGGAGACCAGCAAGGGGCCCAAAAGGGATACTTAGAAAAACTGCGTTTGTTGTATCTTCCCAACCCCGATCAGCATCATCTCAAAGTATATCAATCCCCTTTGCTGCCCTCTGGTTACCACCTTCCTTTTAAGATATTCATTCAAGATATACCTTTCCAAAGCAGGCCTTT
|
benign
| 14,194 |
Gene SF3B4 (splicing factor 3b subunit 4) variant at chromosome 1, position 149923567—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Nager_syndrome']
|
ACCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGA
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ACCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGANNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 14,210 |
Variant at chromosome 1, position 149923657, gene SF3B4 (splicing factor 3b subunit 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Inborn_genetic_diseases']
|
ACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTT
|
ACTGTGCCTGGCCGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTACAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGT
|
pathogenic
| 14,211 |
Determine whether the variant at chromosome 1, position 149923669, in gene SF3B4 (splicing factor 3b subunit 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Inborn_genetic_diseases', 'Nager_syndrome']
|
CGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTTTATAATAGAATG
|
CGTTTTCCTGGACTTTCATGCCAGAATAGGTAACTTTCTTCCTGCTCTCAAAATATTTTGTTTCATTAACAATCTCTTATGTGTCAGTTTTGACAGCAGAACTGCCTTGCTTATCTTTGAATCCTCAGCTGCCACCAACAGACATCCTTTGCAGGTACCATAAAAATGTTAATGAGAATGATGGACGAGAACAAGGGGGCCATGCTCACTTCTTGCCTAGAATTTAGTAAAGTTCACAGTTACATAAGCCAGAGGGCACTTCAAGGAAGGGGTGACTTAACAGGATTAATGTGGCAAAGAACATGGGGGAGAAAAAGGCCATTGGATTTGGTCTACTGAAAAGTCTTTAAACTGAGATTTACACGTGATGAAAATCAAGTTTGGAAGGACTGAGAAATGAGAAAAAAAATTGAAATACAAACTCCTTATCTGAGATGACTGTTTACAGACATCTGTAGGAACAGAACAAAATGGAACACGTATGGAACATTTACTGTCTCCATTTACTCATTTTGTTTTGTAATTATGTAAGACATCTATATTGTTCCAAATGAAAAACACATTAACACAGTATACTCAGAGAATCCAGCTTCCCTCAATATCCACTCCCTCCCCAGTGTTATCAATTTCCATTAGTATTTGGTTTATCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTTTACCCATTTTTAAAAACGTTAATACATATATATATATATATGCTACCCTTAGAGAAGGTAGCACACTACACACATTATTTTCTTCACTTGGAGATCTCTCCACAGCAGTACGTAGAGATCTTCACTTGGAGATCCTTTTTAAAGCTTTTTTTACATTCCTTTTTACAGCTGCACAGTACTCTGCTGCATGAATTTATCAGTTTATTCAACCGTCCCTTTACTGATGGAGATGTGAGTTTCCAATCTACTGCCATTATAACAGTGCTGCAATGAATTGCATAGTGCATGTTACTTCATTTTTGCCAGACTATCTCCAGATACATCTGTTCACTTTAAAACAATAGTCCGGCTGGGTGAGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGGGTGATCGCTTGAGCCCAGGAGTTCAAAACCAGTCTGGGCAATATGCCGAAATCTCACCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTGGTCCCAGCTACTTGGGAGGCTGTGGTGGGAGAATCACCTGAGCCTGGGAGGTTGGGGCTGCAGTGAGCCATGATCGTGCCACTGCACCCCAGCCTAGGCAACAGAGCAAGACCGTGTCTCCAAATAAAAAAAAGAAACAAAAAAAATGACGATCCTATGCTATATATATTGGGTCCCTATCTTCCAAACTAGAAGATAAGCTCTACGTAAGGAAACAATTACTCTAGTGCACAGCAAAGCTCAGCAACTGCAACAGCACATTACAGAATAAGCCTTTAAAATGTGGAGTAAGCACCCTTGCTCCTACTCCTACCTTACCATTCTTTTCATGATACTGACATCTCTTCTTAAAAGAAAAAGAGAAAAGTTACTGTTGTCAAGGAAAACACCACAAATAAACAAGGAGTTTAGTTTTATTTTCTCTGTGCATTTGCAAAATACTCAGGACCAACATAAAAAAGAAATACCTCCTGTGGAAAAAGTTACATTAAAAAGGGGAATGGAGTGGGGGTGCTGAAAGGGATTAGTACCTTTGCCCCAAGGAGCTACAGCATCTCTGATTGGTCCAAGGAATAGAAAAGATATTGGGAAAATGTAACAGGAGGAAGGAAAATGTGAATTTACTGAGGGAGAGGGCCTCGAAGTGGGCCTCGAGGGGGAACTGGTGGCCGGGGAGTGGGTCTGGGTGGAGGGAGAGGCCCCCGCTGGTAGCCATAGGGTGGGGGTCGTGGAGGGCCAGTGTATCCATGGGGGGCATCAGTGGAGGAGGTCCACGCATACCATGCGGAGGCATAGGACCTGGGTGACCTGCAAAGAGTAAAAGAAAAGTTAGTAAGGGCACGGGACAAGGGGTGTGCCTACAGGAAGCTGTAAGAACATGATAAGTGCAGATGAGGGAGGTGGCTAGAGCCGACTTACCCATGGGAGATCCGAATGGAGGCCCTCGGGGGGGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTTTATAATAGAATGN
|
pathogenic
| 14,212 |
Evaluate if the mutation on chromosome 1 at position 149925921 in SF3B4 (splicing factor 3b subunit 4) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Hereditary_hearing_loss_and_deafness']
|
GGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTTTATAATAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCATGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCT
|
GGCATGCCCATTGGAGGAGGTCCAGGATGAGGCATTCCAGGTGGTGGTCGGGGCGGTGGCTGGCCCCCAGAGCCTGGGGGTCCAGCGTGGGGATGTCCTAAGCCATGAGGGCCATGGTGTGCAAGCTGCATCTGAGACATCCCTATGAAAATAAAATAGACACAAGAAGAAAAGAGACAAAGAGAAGGAGGCAAAGAAAATAGAGAAAGGAAGAAAACAAAATTAGAAAGAAAGTGACATCAGAAAGAGAACTATATAGAAAAAAGGGTATAGAAAATAAGGCTGGCTGGGCACAGTGGCTCATGCCAATAATCCCAGCACTTTGGGAGGCCTAGGTGGATCACTTGAGCCCAGGAGTTCAAGAACAGCCTGGGCAACATAGTGAGACCCCAGCTCTATCAAAAAATACTTTTAATTAGCCAGGCATGGTGGTGTGTGCCTCTATTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGGGCCTGGGACGTCAAGGCTACAGTGAGCCAAAACTACGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACCCCATCACCAAAAAATAAAAATAAAAAAAGAAGGGTGGTAAAAAGTGCTCCCTATCCTTGACCCTATTCCAACAGCACAAACCAACCAATCAACCAATTACTCAATCAACTCCTTACCCTATTTGCTTGCTTCTTCCATGATTTAGGTACTGTAATAGTAATGATGAAGTATATAACAAGTGGAGTAATAACTCTGTTGATAGGATTTGAGAAAGTAGCAGAGGACATAACTGTCTAAGCAAAGATCTAATTCTAAAGGATGAATACTTCAGGAGGATAAGATCATGGGAAGAAAGCATCCAAGCAGAAAGATTACCATGTGCAAGTCACAGGTGTGGCAAACAGCACAGTATGTTCCAGGAAATGCCAGTTAACTCAGTAATCAGGAGCAAAATGCAGTTATAGAAATGAGGGGCAGGGGCCAGATCATAAAGAGCTGTGAATGCTATGGTAATGAGTTTGGGTTTTACTCTGTAGGTCAAAGGGAGCAACAGAGGAATTCTGAGCAAGTGTGTGCACATCTGTGTCTTAAAAGACCTACACTGTGAAAGTAGATCAAAGTTAGGGAAAACTGGAGTCAAAGTGGCAAGAGATTACTACAACAAATTAAGTGTAAAATAATGAGGCAATGAGAGACTGAACTAGGGCACTGGCCATGGGGAGAGATGCCACTGATACAAATAAGACTTGGTATTAAGAGTGGGGTGATAGGGAGCAGTCAAACATAGCTCTCAGATTCATGAATTAAGCACCTGAAAAAAAAGAACACTAGAAGAAGAATGGATTTGAAGGAGAGGGATAGAAAAATGACGCTATCTATTAAGCAGCAGCATCAAGGATCTGGAATATCAACAGCTACGGACTAGAGATACAGACCTAGGAGGCATCAGTATATACCCAATTAAAACTATAGATATATGCAGAAAAGAGAAACAAGCACAAAAATCTAGGCACAAGTAGACATGAGTCTATCACGGTAGCTGAGATTAAGAAGTCAGAGAGAGGGGTGGAGGATCTAGAAAAGCAAAAGCAAAAAGAGACAAGAATTTCAAACAGGAGGACACAACTAGTTTCAAGTATATCAGAGGTCAAACTAGATAAGGAGCAGAAGCGTCCCCGAGATTTGGCAATTAGGTCACCACTTTGAGGTGGAGTCAGAGAAGAGAATGGAACTAAAGATTAAAGAAATAAAAACTGGCAAGTAGAGTCTACTTGTCAGAAAAACTTAAGAAATGGATTCAGGGTGGTAGATGTTAGAGAGCATTTTGTATGTTTTTATAATAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCATGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTN
|
pathogenic
| 14,218 |
A mutation at chromosome position 150491380 on chromosome 1 in gene TARS2 (threonyl-tRNA synthetase 2, mitochondrial): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
AAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGCTTATTCTGGCCAGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATAGTAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACTTGTCATCCCAGCTAATTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCATTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAGAAAAATTATTCTGAAGCCCTAAAAGCTTACAGGAGCAGCAGAAGACTGACTGGCCTCCAGCTTCTATGCTTTGGAACTGGGAAGAACCAAGGATTGAGGGGTGGGGCTGGAGCTTCTATGCACTGAAAGAAGAAAAAATACTGGCCTTCTTTCTTTTCTATTCAGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACACGCCACCATGCCTGGCTAGTTTTGTATGTTTTAGCAGAGACAGGGTTTCACCATGTTGGCCAGACTGGCCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTTGACCTCCTGAAGTGTTGGGGTTACAGGCATGAGCTGCTGTGCCCAGCCTTTTTTTTTAAGCTTGTTACTTTTTAGTGGTCACCCCCAAAATCTAGGATCCCCATTTTGTGGTAGTTATTCCTAGAAGAACCATACCGGCTTTCCTACCAGCTTTTGTGAGGAAGAGCTCAGAGATCTAGGGGTTAAGGGAGAAGTTTATGAACTTGTGAACCCCTTTTTTGTGAACCCAGGTGTTCTGGCACTCCAGCACCCATGTCCTGGGGGCAGCAGCTGAACAATTCCTAGGTGCTGTTCTCTGCAGAGGTCCAAGTACAGAATATGGCTTTTACCATGATTTCTTCCTGGGAAAGGAGAGGTGAGTAATGAAAGGAAGGAGGAGAATGATTCTGGGATGGTTTCTGAGGCTCTTTTCAGGGGCCTTGGGCATGCTCCATTTGGATGAGGAAGCTGGAGGAGAAGGGTTTCTCTAGGTCTCAACTATGACATTAGTATCTCCTTCTGTGCTAGTCCATGTCCCTCTTCTAACTTTGCTTGAAATTTACCTTCTTGGCTGGTGCACATGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTTGAGGCTGTGGTGAGCCATGATCTTAACCACTGCACCCAACTTGTGTGACACAGCAAGACACTTTCTCAAAAAAAAAACAAAAAGAAAAAGAAGAAACAACTTACTTTGTTACTTGTTAGCTTTCATAAATTCAAGTTTTACTTAATCGCCCTCATTACTATTGTTCTAACTTTGTCTATCCAGATTTCCTGCATTCAACTTTTAACTTCATGCATAGAGCTTTTTCTCCAGCTGTAATATCTGTTACCTGATATCCTATTTATATTTTCTCTGAGTTTGTCTGTCTTTGCCTATAACTCTAGATTTCTCTTGAAGGACAGGACCTTACCCGCTAGCCAACAGGTGTGTCACCCAGGTGATTGATGCACCTCATAGGATGCAACCCAACCAATTCTCCTCTTTCCAGGACAATCCGGGGCTCAGAGCTGCCTGTTTTGGAGCGGATTTGCCAGGAACTTACAGCTGCTGCTCGACCCTTCCGGAGGCTAGAGGCTTCACGGGATCAGCTTCGCCAGTTGTTCAAGGTGGGGTGGAGGGAAGAGGTGGCTCTTCCAGGACATCTTTGTGGGAATAAACACTTTTCTTCAATCTCCCTTCTACCTTTTTCCAGGATAACCCCTTTAAGCTTCACTTGATTGAGGAGAAAGTGACAGGTCCAACAGCAACAGTATATGGGTAAGAGTTGTCAAGATTAAGGCAAACAGAGAGGTGGGGAAGCATTGAAGAAGGCCAGAAATGCGATAAGGGAAGAAAGATAGAAGGTAATTTGTGTTGCTCCAGAAAAAGAAATGGGAATGGGAATTGATTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGGTCTGTCTCCCAGGCTGGAGTGCGGTAGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCAGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCATCTCTGCCTCCCGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCATGCACCACCATGCCTAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATATTGTCCAGGCTGGTCTCGAACTCCTGACCACGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTATAGACATGAGCCACCGCGCCCTGCCAGGGAATTGATTTTTATCTGCCATTGCCCTCTCTCAGTAGGACAGTTCCTTTCTCTTCACCTCTTCTGTCAGCTAAAGACCATGAGAGGGAGAAAGCTAGAAGCTGAAGATTCTGAAAATCACTAACTGGCCTCTTCTTTCTCCTAGGTGTGGCACATTGGTTGACCTTTGCCAGGGCCCCCACCTTCGGCATACTGGACAGATTGGAGGACTGAAGCTGCTATCGGTCAGTTGTGGGACAGAGTTAGGTTAAGATTCCTATTTTGAGCCGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCATAAAGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCTAGCTGCTCGGGAGGCTGAGACAGGAGAGTTGCCTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCGAGACTGCACTACTGCACTCCAGCCTGGGCAACAGAGCGAGAGTCCATCTCAAAAAAAAAAAAAAAAAAATTCCTGGTTTCACTGGGATGAGCAGGAGAATCGGAAGGTGATACTTTCTGTCGGCACCCCCCTTTTTTTTTTTTGAGACCAAGTCTCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTTCGCCTCCTGGATTCAAGCAATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATAATAGGTGTGCACCACCATGCCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGGTGATCTCAAGTGATCTTCCCTTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTGGCCCTGTACTCTCATAAGCTGAGCGGGGAATACAGGAGAAAGAAACTTTGTCCCCACATTCTAAAAACCCGTTTGATGGCACACACTGGACAGCCTGCTAGGGCCCAGAAGCCAATTCAGATGCCCTAATATGATGTCAGTATTAAGGGGGGTGGAGGGGTGGAGCAGGAGGGTGTGAGCAAGCTGGATGGGTCATACAGGGAAGGGTTGTAGAGAGAGGGGGCGTGGTCCAGGAGGAAGATGAACACCATTTGACAGGCAC
|
AAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGCTTATTCTGGCCAGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATAGTAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACTTGTCATCCCAGCTAATTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCATTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAGAAAAATTATTCTGAAGCCCTAAAAGCTTACAGGAGCAGCAGAAGACTGACTGGCCTCCAGCTTCTATGCTTTGGAACTGGGAAGAACCAAGGATTGAGGGGTGGGGCTGGAGCTTCTATGCACTGAAAGAAGAAAAAATACTGGCCTTCTTTCTTTTCTATTCAGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACACGCCACCATGCCTGGCTAGTTTTGTATGTTTTAGCAGAGACAGGGTTTCACCATGTTGGCCAGACTGGCCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTTGACCTCCTGAAGTGTTGGGGTTACAGGCATGAGCTGCTGTGCCCAGCCTTTTTTTTTAAGCTTGTTACTTTTTAGTGGTCACCCCCAAAATCTAGGATCCCCATTTTGTGGTAGTTATTCCTAGAAGAACCATACCGGCTTTCCTACCAGCTTTTGTGAGGAAGAGCTCAGAGATCTAGGGGTTAAGGGAGAAGTTTATGAACTTGTGAACCCCTTTTTTGTGAACCCAGGTGTTCTGGCACTCCAGCACCCATGTCCTGGGGGCAGCAGCTGAACAATTCCTAGGTGCTGTTCTCTGCAGAGGTCCAAGTACAGAATATGGCTTTTACCATGATTTCTTCCTGGGAAAGGAGAGGTGAGTAATGAAAGGAAGGAGGAGAATGATTCTGGGATGGTTTCTGAGGCTCTTTTCAGGGGCCTTGGGCATGCTCCATTTGGATGAGGAAGCTGGAGGAGAAGGGTTTCTCTAGGTCTCAACTATGACATTAGTATCTCCTTCTGTGCTAGTCCATGTCCCTCTTCTAACTTTGCTTGAAATTTACCTTCTTGGCTGGTGCACATGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTTGAGGCTGTGGTGAGCCATGATCTTAACCACTGCACCCAACTTGTGTGACACAGCAAGACACTTTCTCAAAAAAAAAACAAAAAGAAAAAGAAGAAACAACTTACTTTGTTACTTGTTAGCTTTCATAAATTCAAGTTTTACTTAATCGCCCTCATTACTATTGTTCTAACTTTGTCTATCCAGATTTCCTGCATTCAACTTTTAACTTCATGCATAGAGCTTTTTCTCCAGCTGTAATATCTGTTACCTGATATCCTATTTATATTTTCTCTGAGTTTGTCTGTCTTTGCCTATAACTCTAGATTTCTCTTGAAGGACAGGACCTTACCCGCTAGCCAACAGGTGTGTCACCCAGGTGATTGATGCACCTCATAGGATGCAACCCAACCAATTCTCTTTCCAGGACAATCCGGGGCTCAGAGCTGCCTGTTTTGGAGCGGATTTGCCAGGAACTTACAGCTGCTGCTCGACCCTTCCGGAGGCTAGAGGCTTCACGGGATCAGCTTCGCCAGTTGTTCAAGGTGGGGTGGAGGGAAGAGGTGGCTCTTCCAGGACATCTTTGTGGGAATAAACACTTTTCTTCAATCTCCCTTCTACCTTTTTCCAGGATAACCCCTTTAAGCTTCACTTGATTGAGGAGAAAGTGACAGGTCCAACAGCAACAGTATATGGGTAAGAGTTGTCAAGATTAAGGCAAACAGAGAGGTGGGGAAGCATTGAAGAAGGCCAGAAATGCGATAAGGGAAGAAAGATAGAAGGTAATTTGTGTTGCTCCAGAAAAAGAAATGGGAATGGGAATTGATTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGGTCTGTCTCCCAGGCTGGAGTGCGGTAGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCAGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCATCTCTGCCTCCCGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCATGCACCACCATGCCTAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATATTGTCCAGGCTGGTCTCGAACTCCTGACCACGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTATAGACATGAGCCACCGCGCCCTGCCAGGGAATTGATTTTTATCTGCCATTGCCCTCTCTCAGTAGGACAGTTCCTTTCTCTTCACCTCTTCTGTCAGCTAAAGACCATGAGAGGGAGAAAGCTAGAAGCTGAAGATTCTGAAAATCACTAACTGGCCTCTTCTTTCTCCTAGGTGTGGCACATTGGTTGACCTTTGCCAGGGCCCCCACCTTCGGCATACTGGACAGATTGGAGGACTGAAGCTGCTATCGGTCAGTTGTGGGACAGAGTTAGGTTAAGATTCCTATTTTGAGCCGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCATAAAGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCTAGCTGCTCGGGAGGCTGAGACAGGAGAGTTGCCTGAACCTGGGAGGCGGAGGTTGTAGTGAGCCGAGACTGCACTACTGCACTCCAGCCTGGGCAACAGAGCGAGAGTCCATCTCAAAAAAAAAAAAAAAAAAATTCCTGGTTTCACTGGGATGAGCAGGAGAATCGGAAGGTGATACTTTCTGTCGGCACCCCCCTTTTTTTTTTTTGAGACCAAGTCTCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTTCGCCTCCTGGATTCAAGCAATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATAATAGGTGTGCACCACCATGCCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGGTGATCTCAAGTGATCTTCCCTTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTGGCCCTGTACTCTCATAAGCTGAGCGGGGAATACAGGAGAAAGAAACTTTGTCCCCACATTCTAAAAACCCGTTTGATGGCACACACTGGACAGCCTGCTAGGGCCCAGAAGCCAATTCAGATGCCCTAATATGATGTCAGTATTAAGGGGGGTGGAGGGGTGGAGCAGGAGGGTGTGAGCAAGCTGGATGGGTCATACAGGGAAGGGTTGTAGAGAGAGGGGGCGTGGTCCAGGAGGAAGATGAACACCATTTGACAGGCACNNN
|
benign
| 14,307 |
Determine if the mutation at chromosome 1, position 150499372 in gene TARS2 (threonyl-tRNA synthetase 2, mitochondrial) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
TAAACATAAATATTGAAAGTGCTGGTGACCTTTAATACTACAATTGTGTGGTCTGCAGTCGGGGAGCATAGAGATGGGACCTGGTATTTAATAGGTTGTGGTTGCAATCAGCATGGCCTGAGGGCCCAGGAAGATCACACAGCTGACACCCTACCTGCTTTCCTTCCAGTTACTCTGACCTTCCATGTCTGTACCCTCCTCTCCAGGCTGAGTATGCCCATCGTGGTTTCTCCGAGGTGAAAACTCCCACACTGTTTTCTACGAAGCTCTGGGAACAGTCAGGGCACTGGGAGCATTATCAGGAAGACATGTTTGCCGTGCAGCCCCCAGGCTCTGACAGGCCTCCCAGCTCCCAGAGTGACGATTCTACCAGGCATATCACAGATACACTCGCCCTCAAGCCTATGAACTGCCCTGCACACTGGTAAGCTGGGAGCTAGGGTTACAATCAGGTTGCTAAATATTAAATAATAGAAAGCACCTTGGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGCTAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGCACCTTGGAAAGAGTATTGGGACACCGATTTGAGCCTACAGTCTTCCCCCTAGCTAACCATGTAAATTTGGGAAACTCATTTTACCTCTTTAGGTCTCAGTCTCCTTAAAGTTGCTATCTAAGGCTCCTCCTTCAGCTCAGTGACCATCACAGAACAGGGAAATGGTAAACGATGTCTGTTATTGTGTTACTGAGAAATCCACTTTTGAACCTCAGGGCTCAGACTGTGATGAGTGGGATTGACAGGACTCAGTGGGAGGATGTGCTGAGGCTGGAGAGGGTTATAGCAGATGGTGCAGAGAAAGTAGGCAAGCAGATTGGGTGGAGGAGCAGTCTTCGGGGGCTAGTCCTCCCTATGGCCCTGACCCCTCTGCACCCCAACCTCAGCCTGATGTTCGCCCACCGGCCCAGATCCTGGCGGGAACTGCCCCTGCGACTAGCTGACTTTGGGGCTCTACACCGGGCCGAAGCCTCTGGTGGTCTGGGGGGACTGACCCGACTGCGGTGCTTCCAGCAGGATGACGCTCACATCTTCTGTACAACAGATCAGGTGGCCTTTCCCTGGCTCCACCAAAGCTTTTCTAAACCACCTTTCTTTCTCCCTATGAACCTGCAAACCCCTGATCTTTATTTGCCCCCTGTATGTACTATAATTCAGCTACATTCTACCCCCAGCTTGCTTCCGCTTCCTCTCTGTTTTTGCCCTTTGTTTTCCTCAAACTGCCAGCATCCCTGATCTCTAGCGGGCTCACAGCTCACTGACCCTTATTTCCTGCCCCTAGCTGGAAGCAGAGATCCAAAGCTGTCTTGATTTCCTCCGTTCCGTCTATGCCGTTCTTGGCTTCTCCTTCCGCCTGGCACTGTCCACCCGGCCATCTGGCTTCCTGGGGGACCCTTGCCTTTGGGACCAGGCCGAACAGGTGAGTAGGAGGTAGAGAAATAGAGGCAGATAAACCACTCTCTGGTGGGAAGGAGTGGAGAATACAGTAATCAAGGTTCTCAGAGGCATCTGGTGAGTGGGTCATTTGTTGGGGACTGACCGGATGTGTTGCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTTTTGCTTTGTTTTAGTAAATATTTAATAGATACAAAGAATTTTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGGCTAAAATGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCAGCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTACGCCACCACACCCGGCTAATTTTTTTGTATTTTTAATAGAGATGGGGTTTCGCCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCAATCCACCCCACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACAAAGAAATATTTTTAAACTTACGTAGGATATAAAGAAAAACAATATACTTTCTGCCCTCTTGGCATCTGCAATCTAGTGAGGGCTGCTGAAGGTAAATAGGCCATATCAGTGCTGCGAGATCTGTGCTGTGTAGGTACCAAGAGAGCACGTTAGCTGGGGTTAGCATTACTCGGGGAGGTTACAAAAGGTGTCCTGCAGGAATCACTTTCCAATCTGAAAGGTGAGTGTTGGCCAAGTAAAGATGTGTTTCAGGAGGGAACAGTGTAGGCAGAGGCTGGGGATAAGGATGAAAACACATGGCAGACCAATCTGGGCAACACAGGGAGACCCTGTGTCTACCAAAAAAAAAAAAAAAAATTAGCCGGGTGCAGTAGCTTGTGCCTGTGGTCCCAGCTACCCAGCAGGCTGAGATGGGAGGATCACCTGGTCCCAGGAGGTAGAGGCTGCAGTGAGCCGAGATTGCGCCCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCCTGTCTCAAAAAAAAAGAAGCCAAGGGGAAAAAAGGACTGAAAAGTGTCCACTGGATTTAGTAAAAAGGCTGCTGGATTTCAAAGGACCATTTTCAGTAAAGTAGGGCCTGAGGGTGGAGTTAGAAGATGAATAAATGAGGCCTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGCGAAACCCCATCTCTACTAAAAATATAAAAATTGGCCGGGTGAGGTGTTAGGACACACCTGTAGTCCCAACTACTCAGTAGCCTGAGGCAGGAGAATCGCTGAACCTGGGAAGTTGCAGTGAGCCAAGATCACACCACTGCACCCTAGCCTGGGCAACAGAGCAAGACTCCGTCCCAAAAAGTAAAAATAAAACAGGCTGGGGGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGTGACAGGCACCTGTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGGTCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGGCTCCATCTCAGAAAAATAATAATAAAATGAAAAATAAAATAAATGCTATGATGAGAGGAAGTCTATTTGGAGGGAGAAGTTGTTGTAAAGGGAAGTTCCTGGAGAGGTTTAAGGTAGGATTGAGAAGCCTTCATAGAAGGGATCACCATTGCCATTGTATCCAGGGTGGAAGGAAAGGCTGAAGGTAGATGCAAGGAAGTTTGTAGGCATGGTAACAGGAAGTTGAGGCTCTTCCCATCCCATGGTATCAATTATCTGAATTCTTCATGAGGCAGGATCATTTGCTGAAATGAGAGTGGAGAAGAGGAGAGTTGTCAGTGAGGGGGCTGAAGATATGAAGAAAAGGCTGTGTGCAGTGGCCCCCTCTTGTAATCCCAGCACTTAGGGAGGCTGAGCTGAGATGATCACTTGAATCCAGGAGTTTGATACCAGCCTGGGCAACATAGTAACAGGGCATCATAATAAGACCTCGTCTCTACAAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGAGACTATGTCTCGCTCTGCTGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACG
|
TAAACATAAATATTGAAAGTGCTGGTGACCTTTAATACTACAATTGTGTGGTCTGCAGTCGGGGAGCATAGAGATGGGACCTGGTATTTAATAGGTTGTGGTTGCAATCAGCATGGCCTGAGGGCCCAGGAAGATCACACAGCTGACACCCTACCTGCTTTCCTTCCAGTTACTCTGACCTTCCATGTCTGTACCCTCCTCTCCAGGCTGAGTATGCCCATCGTGGTTTCTCCGAGGTGAAAACTCCCACACTGTTTTCTACGAAGCTCTGGGAACAGTCAGGGCACTGGGAGCATTATCAGGAAGACATGTTTGCCGTGCAGCCCCCAGGCTCTGACAGGCCTCCCAGCTCCCAGAGTGACGATTCTACCAGGCATATCACAGATACACTCGCCCTCAAGCCTATGAACTGCCCTGCACACTGGTAAGCTGGGAGCTAGGGTTACAATCAGGTTGCTAAATATTAAATAATAGAAAGCACCTTGGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGCTAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGCACCTTGGAAAGAGTATTGGGACACCGATTTGAGCCTACAGTCTTCCCCCTAGCTAACCATGTAAATTTGGGAAACTCATTTTACCTCTTTAGGTCTCAGTCTCCTTAAAGTTGCTATCTAAGGCTCCTCCTTCAGCTCAGTGACCATCACAGAACAGGGAAATGGTAAACGATGTCTGTTATTGTGTTACTGAGAAATCCACTTTTGAACCTCAGGGCTCAGACTGTGATGAGTGGGATTGACAGGACTCAGTGGGAGGATGTGCTGAGGCTGGAGAGGGTTATAGCAGATGGTGCAGAGAAAGTAGGCAAGCAGATTGGGTGGAGGAGCAGTCTTCGGGGGCTAGTCCTCCCTATGGCCCTGACCCCTCTGCACCCCAACCTCAGCCTGATGTTCGCCCACCGGCCCAGATCCTGGCGGGAACTGCCCCTGCGACTAGCTGACTTTGGGGCTCTACACCGGGCCGAAGCCTCTGGTGGTCTGGGGGGACTGACCCGACTGCGGTGCTTCCAGCAGGATGACGCTCACATCTTCTGTACAACAGATCAGGTGGCCTTTCCCTGGCTCCACCAAAGCTTTTCTAAACCACCTTTCTTTCTCCCTATGAACCTGCAAACCCCTGATCTTTATTTGCCCCCTGTATGTACTATAATTCAGCTACATTCTACCCCCAGCTTGCTTCCGCTTCCTCTCTGTTTTTGCCCTTTGTTTTCCTCAAACTGCCAGCATCCCTGATCTCTAGCGGGCTCACAGCTCACTGACCCTTATTTCCTGCCCCTAGCTGGAAGCAGAGATCCAAAGCTGTCTTGATTTCCTCCGTTCCGTCTATGCCGTTCTTGGCTTCTCCTTCCGCCTGGCACTGTCCACCCGGCCATCTGGCTTCCTGGGGGACCCTTGCCTTTGGGACCAGGCCGAACAGGTGAGTAGGAGGTAGAGAAATAGAGGCAGATAAACCACTCTCTGGTGGGAAGGAGTGGAGAATACAGTAATCAAGGTTCTCAGAGGCATCTGGTGAGTGGGTCATTTGTTGGGGACTGACCGGATGTGTTGCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTTTTGCTTTGTTTTAGTAAATATTTAATAGATACAAAGAATTTTTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGGCTAAAATGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCAGCTCCCTGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTACGCCACCACACCCGGCTAATTTTTTTGTATTTTTAATAGAGATGGGGTTTCGCCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCAATCCACCCCACTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACAAAGAAATATTTTTAAACTTACGTAGGATATAAAGAAAAACAATATACTTTCTGCCCTCTTGGCATCTGCAATCTAGTGAGGGCTGCTGAAGGTAAATAGGCCATATCAGTGCTGCGAGATCTGTGCTGTGTAGGTACCAAGAGAGCACGTTAGCTGGGGTTAGCATTACTCGGGGAGGTTACAAAAGGTGTCCTGCAGGAATCACTTTCCAATCTGAAAGGTGAGTGTTGGCCAAGTAAAGATGTGTTTCAGGAGGGAACAGTGTAGGCAGAGGCTGGGGATAAGGATGAAAACACATGGCAGACCAATCTGGGCAACACAGGGAGACCCTGTGTCTACCAAAAAAAAAAAAAAAAATTAGCCGGGTGCAGTAGCTTGTGCCTGTGGTCCCAGCTACCCAGCAGGCTGAGATGGGAGGATCACCTGGTCCCAGGAGGTAGAGGCTGCAGTGAGCCGAGATTGCGCCCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCCTGTCTCAAAAAAAAAGAAGCCAAGGGGAAAAAAGGACTGAAAAGTGTCCACTGGATTTAGTAAAAAGGCTGCTGGATTTCAAAGGACCATTTTCAGTAAAGTAGGGCCTGAGGGTGGAGTTAGAAGATGAATAAATGAGGCCTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGCGAAACCCCATCTCTACTAAAAATATAAAAATTGGCCGGGTGAGGTGTTAGGACACACCTGTAGTCCCAACTACTCAGTAGCCTGAGGCAGGAGAATCGCTGAACCTGGGAAGTTGCAGTGAGCCAAGATCACACCACTGCACCCTAGCCTGGGCAACAGAGCAAGACTCCGTCCCAAAAAGTAAAAATAAAACAGGCTGGGGGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGTGACAGGCACCTGTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGGTCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGGCTCCATCTCAGAAAAATAATAATAAAATGAAAAATAAAATAAATGCTATGATGAGAGGAAGTCTATTTGGAGGGAGAAGTTGTTGTAAAGGGAAGTTCCTGGAGAGGTTTAAGGTAGGATTGAGAAGCCTTCATAGAAGGGATCACCATTGCCATTGTATCCAGGGTGGAAGGAAAGGCTGAAGGTAGATGCAAGGAAGTTTGTAGGCATGGTAACAGGAAGTTGAGGCTCTTCCCATCCCATGGTATCAATTATCTGAATTCTTCATGAGGCAGGATCATTTGCTGAAATGAGAGTGGAGAAGAGGAGAGTTGTCAGTGAGGGGGCTGAAGATATGAAGAAAAGGCTGTGTGCAGTGGCCCCCTCTTGTAATCCCAGCACTTAGGGAGGCTGAGCTGAGATGATCACTTGAATCCAGGAGTTTGATACCAGCCTGGGCAACATAGTAACAGGGCATCATAATAAGACCTCGTCTCTACAAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGAGACTATGTCTCGCTCTGCTGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCAC
|
benign
| 14,331 |
Regarding the variant at chromosome 1 and position 150553171, affecting gene ADAMTSL4: benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']
|
AGTGTTCAAAGCTGAACTTCAGATGGACTTCCCGGCTCTTCAGAATGAGAGGCCTGTGGCTGGGGCATGAGGCAGCCCCGGCTGCACCTCTCCTTCCCGCTTCCCCAGCTGGTAGAGACGCACAGGAAACAAGCCCTCACTGAACCAACTCCAGATGCTGGCACCCAGAGTGGGTGTTACATTGCCGGCTTCTTCTCTAGAGATTAAACCGTCAACCCATTTAGCTTATCCCTTGGCCAAAAAGTGTATGAGATGTGCCTGGATGTTCCCTAAAGAGCTTATCTAAGAAGGGAAGAGAAAGCCGGGAGGCAAGTAGGACAGAGAGATGACTGGGGAAGGTCTTGTGTCTGGAAGACCCAAGGAAGGGGCTTCTGGTGGGTCCTCAGAGAGAGTGTCTGGCGCATCCTCAGTGGAGCCTTCCTCCTCTACTTTCTAGGCACCTCTGGGAGGGCAGGAGTGGGAGCAGATGACAACCATTTTAGAAGGAGCCCTCTGGCTGGGTGCGGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCCAAGGCAGGAGAAGCGCTTGAGGCCTGGAGTTCAAGACCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTG
|
AGTGTTCAAAGCTGAACTTCAGATGGACTTCCCGGCTCTTCAGAATGAGAGGCCTGTGGCTGGGGCATGAGGCAGCCCCGGCTGCACCTCTCCTTCCCGCTTCCCCAGCTGGTAGAGACGCACAGGAAACAAGCCCTCACTGAACCAACTCCAGATGCTGGCACCCAGAGTGGGTGTTACATTGCCGGCTTCTTCTCTAGAGATTAAACCGTCAACCCATTTAGCTTATCCCTTGGCCAAAAAGTGTATGAGATGTGCCTGGATGTTCCCTAAAGAGCTTATCTAAGAAGGGAAGAGAAAGCCGGGAGGCAAGTAGGACAGAGAGATGACTGGGGAAGGTCTTGTGTCTGGAAGACCCAAGGAAGGGGCTTCTGGTGGGTCCTCAGAGAGAGTGTCTGGCGCATCCTCAGTGGAGCCTTCCTCCTCTACTTTCTAGGCACCTCTGGGAGGGCAGGAGTGGGAGCAGATGACAACCATTTTAGAAGGAGCCCTCTGGCTGGGTGCGGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCCAAGGCAGGAGAAGCGCTTGAGGCCTGGAGTTCAAGACCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGN
|
pathogenic
| 14,382 |
Is chromosome 1, position 150553749, gene ADAMTSL4 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Craniosynostosis_with_ectopia_lentis', 'Ectopia_lentis', 'Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae', 'Inborn_genetic_diseases']
|
CCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCAC
|
CCAGCCTGTGCAATTTAGCTGGATCCCATCTCCACCAAAAAATACCAAAATTAGCTGGGTGTGGTGGTGCACGCATGTAGTCCCACCTACTCAGGAGGCTGAGGAAGGAGAGCCTGTGAGTTTGAGGCTGCAATGAGCTTTGGTGGCACCACTGCCCTCCAGCCTGGATGACAGAGTGAGATCTCCATCTCAAAAAAAAAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 14,386 |
Considering the variant on chromosome 1, location 150553947, involving gene ADAMTSL4, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['ADAMTSL4-related_disorder']
|
AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGG
|
AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCG
|
pathogenic
| 14,392 |
Is the chromosome 1, position 150553947 variant in ADAMTSL4 clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['ADAMTSL4-related_disorder']
|
AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGG
|
AAAAAAAAGCCTTTTGTGTGTGCCTGAGCCGGCTTAGAAACAGTCCCTAGGTAGGATTTGGGGAGGAGCTAAGAAGCCCCTACAGGGCCCAGAGGTGGGGACTGAGCCTTAGTTGGAGGGCTGAGGTCAGCCCCTGACCATGTAGCCTCTACAGATGGACAAGGCAGTGATCCTCCCTGCTCCCACCCTGAGGATCCTAAAGGGATGGACCAGTTTCACCCCCTCCTCCATATTCTCTGAGCTGTCCTCCCAGCCCCAAGCTCTCTGGACACTGGAGAGGTAACCACCAGGCTTCTGTCCCTGCAGAGAGCACCCTCCACGCCCAGATGCCTGCGTAGTTTTTGTGACCAGTCCGCTCCTGCCTCCCCCTGGGGCAGTAGAGGGGGAGCGATGGAGAACTGGACTGGCAGGTGAGAGAAGGGGCCACGGGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGN
|
pathogenic
| 14,393 |
Evaluate the clinical significance of the mutation at chromosome 1, position 150554375 in gene ADAMTSL4: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['ADAMTSL4-related_disorder', 'Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']
|
GGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCTGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCC
|
GGTTGGGGGGGAGGAAAAGGGGAGGTGCTGGGATGGCTCTGTGTCTGGAAGTGAGGGAAAGGGGACCACTGGGAGGGGCAGGGGAAGTGATGAGTAACTTCTGCTTTCTGAGAAGTTGGTAGTCAGGATATGGGAGCCGGCTGGGGGCGGAGGGCAGTGTTGCAACACCCCCTCTGGCTCCAGTCTGACGTCCCTCCCCTGGCCTTTGGTTTGCAGGCCCTGGCTGTATCTGCTGCTGCTTCTGTCCCTCCCTCAGCTCTGCTTGGATCAGGAGGTGAGTTCTGGACAAGTGAGCAGCTGCAGCCTGCCTGCCACCCTTTCATCTCCCCCTAGGCTCCCACCCCATCTCTCCAGGCCACGCCTCCATTCCCCACAGCCCACCCACCTCCCCTGCCAACTCCCCAGTTCCTTGCCTCATAACACCAAGAGGCCGAGGTGTAGTTCTCCCTCTGCTGCTGAATGTGACCTTGGACTGGTAGCGACTCCGTGAGCCTCAGTGTTGGTCTACATGGACACTCTGGACAGTTCCCTCTAATCCTTCCAATTCTGTCTGACCTTTTTCTCTATATAGGTGTTGTCCGGACACTCTCTTCAGACACCTACAGAGGAGGGCCAGGGCCCCGAAGGTGTCTGGGGACCTTGGGTCCAGTGGGCCTCTTGCTCCCAGCCCTGCGGGGTGGGGGTGCAGCGCAGGAGCCGGACATGTCAGCTCCCTACAGTGCAGCTCCACCCGAGTCTGCCCCTCCCTCCCCGGCCCCCAAGACATCCAGAAGCCCTCCTCCCCCGGGGCCAGGGTCCCAGACCCCAGACTTCTCCAGAAACCCTCCCCTTGTACAGGACACAGTCTCGGGGAAGGGGTGGCCCACTTCGAGGTCCCGCTTCCCACCTAGGGAGAGAGGAGACCCAGGAGATTCGAGCGGCCAGGAGGTGAGAGGCCTGGGTGGAAGAGGTGGGCCTTGGGCAAGGTGGGGGCTTAGCATGAAGGAAAGGGGAGCACGGGTGGCTTCAGAGGGCTTGTCTTTGGTGCCAGGAAGTAAACTGGGGAAACAGGGTCAGAGGTGGTCAGAGCTGTGCCCCCACATCTGAAACACCTTCTCAGGTCCCGGCTTCGAGACCCCATCAAGCCAGGAATGTTCGGTTATGGGAGAGTGCCCTTTGCATTGCCACTGCACCGGAACCGCAGGCACCCTCGGAGCCCACCCAGATCTGAGCTGTCCCTGATCTCTTCTAGAGGGGAAGAGGCTATTCCGTCCCCTACTCCAAGAGCAGAGCCATTCTCCGCAAACGGCAGCCCCCAAACTGAGCTCCCTCCCACAGAACTGTCTGTCCACACCCCATCCCCCCAAGCAGAACCTCTAAGCCCTGAAACTGCTCAGACAGAGGTGGCCCCCAGAACCAGGCCTGCCCCCCTACGGCATCACCCCAGAGCCCAGGCCTCTGGCACAGAGCCCCCCTCACCCACGCACTCCTTAGGAGAAGGTGGCTTCTTCCGTGCATCCCCTCAGCCACGAAGGCCAAGTTCCCAGGGTTGGGCCAGTCCCCAGGTAGCAGGGAGACGCCCTGATCCTTTTCCTTCGGTCCCTCGGGGCCGAGGCCAGCAGGGCCAAGGGCCTTGGGGAACGGGGGGGACTCCTCACGGGCCCCGCCTGGAGCCTGACCCTCAGCACCCGGGCGCCTGGCTGCCCCTGCTGAGCAACGGCCCCCATGCCAGCTCCCTCTGGAGCCTCTTTGCTCCCAGTAGCCCTATTCCAAGATGTTCTGGGGAGAGTGAACAGCTAAGAGCCTGCAGCCAAGCGGTGAGTCTCCTCGGGCCTCCCCTCCCAACCCCGACCTCCAGTGTGGCTTCCCTGCCCTGAAGCTGGGTCTTCAGCTTCCGCTTGGCACCTGAGGGAGAAGGGCCTTGGCATCTGACCACCTCAGGGCAGGGGTCTTGGAGCTCTTCCGCTGACCTGAGCCTCCCACCTGCTCCCCAGGTTCAGCCCTGCCCCTACCCTCATTTTGCTCCCCAGCTCTGACTCCTTTGTACCCCTCACCGCAGCCCTGCCCCCCGAGCAGCCAGACCCCCGGGCCCTGCAGTGCGCAGCCTTTAACTCCCAGGAATTCATGGGCCAGCTGTATCAGTGGGAGCCCTTCACTGAAGGTGAGGTTTCTTGCTCACCCCTGGGCAGTGGTGGCTTGGAATTGGGGATGAAGGGGAGAGGAGATACCTGCTTACTCCCAGCCCTGAATGACTTCCAGCCCCTCTGCTTCCCCTGCGCCATGCCTTCTTTCTTCTCCCTGGGGCTGGGTCAGGAGACAGCACAGGTGGTGAGTGGTCTGCAGAAGGGTCGGGGTGGGAGGAGGAGGTGTGGGAGACACGCTTTGTCCGGACTCCCCTGGGAAGGCCATCACTGGGGGTCAGGTGGCTGTGACACAAGAGGGCCATGGTGGGAGAGATCCTGTCCAGCCGTGACAGCCAGGTGGGGGTGTGCCACGCATCCTGGGCACTGTCGTATCGGTTGCTCCCAGGTTACCATCCGCTTCATTTTAGGCCTGTGTTAACTTGACACCGGGATAAGCACTCAAGAGCTCTGAACACACAGAATCATGGGCATCAGGGATTGCTCCTCTCTCAGTTCAGAGTCCCCTTGATGGTCTCGGTGACCTCAACTGACCTGACCACCTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTAATTTTTGTATTTGTAGTGGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCGAATGATGCACCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCN
|
pathogenic
| 14,398 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 150557306, gene ADAMTSL4: what disease(s) if pathogenic?
|
pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']
|
GATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGG
|
GATTACAGGCATGAGCCACTGCGCCCGGCCCTGACCACCTCAGCTTGTGCTGTTGTCACATTTCCTTCATCCACAGTGACCTGGGCAACCTCAAGGTGCCCCCTCTGGGGCCTCTCTCAGCTAACCTCCCACCAGGGAGCCCACTAACCACCCTTCTACCCTGTCCCTTAGTCCAGGGCTCCCAGCGCTGTGAACTGAACTGCCGGCCCCGTGGCTTCCGCTTCTATGTCCGTCACACTGAAAAGGTCCAGGATGGGACCCTGTGTCAGCCTGGAGCCCCTGACATCTGTGTGGCTGGACGCTGTCTGGTGAGGGAAGACAGTGTGTGTGTGCACACACACATGCATATGCACACAGACACATGCCCCCATATGCATACACATGTACACACATATGTATGAACACATGCACACATGCAAGCACATACACACACGCATATGCGCACAGACACATGCACACACGCACACACACACACGCACACACACGCATATGCACACACATGCACATGCATATGCAGACACATGCATGCACATGTGCACACGTGCATGAACACATGCACACACACGTATGCAGACACATGCACACACATGTAGACACACATGCATGAACACATGCACACATGCACACACACGTATTTGCACAGTCTCAATTCAACAACAAAACACCATACTGAGATCACTGAGGGAGAATTCTCACCTGCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGNN
|
pathogenic
| 14,415 |
Clinical classification of chromosome 1, position 150558029, gene ADAMTSL4 (ADAMTS like 4): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']
|
AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGAC
|
AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGA
|
pathogenic
| 14,422 |
A genetic variant on chromosome 1, position 150558029, affects the gene ADAMTSL4 (ADAMTS like 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Craniosynostosis_with_ectopia_lentis', 'Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']
|
AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGAC
|
AAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACN
|
pathogenic
| 14,423 |
Variant on chromosome 1, at position 150558947, affecting ADAMTSL4 (ADAMTS like 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
TGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACAGCTCTCCACATTGCCCCCTGGTGGTACAGGCCCGGCTCTGCGTCTACCCCTACTACACAGCCACCTGTTGCCGCTCTTGCGCACATGTCCTGGAGCGGTCTCCCCAGGATCCCTCCTGAAAGGGGTCCGGGGCACCTTCACGGTTTTCTGTGCCACCATCGGTCACCCATTGATCGGCCCACTCTGAACCCCCTGGCTCTCCAGCCTGTCCCAGTCTCAGCAGGGATGTCCTCCAGGTGACAGAGGGTGGCAAGGTGACTGACACAAAGTGACTTTCAGGGCTGTGGTCAGGCCCATGTGGTGGTGTGATGGGTGTGTGCACATATGCCTCAGGTGTGCTTTTGGGACTGCATGGATATGTGTGTGCTCAAACGTGTATCACTTTTCAAAAAGAGGTTACACAGACTGAGAAGGACAAGACCTGTTTCCTTGAGACTTTCCTAGGTGGAAAGGAAAGCAAGTCTGCAGTTCCTTGCTAATCTGAGCTACTTAGAGTGTGGTCTCCCCACCAACTCCAGTTTTGTGCCCTAAGCCTCATTTCTCATGTTCAGACCTCACATCTTCTAAGCCGCCCTGTGTCTCTGACCCCTTCTCATTTGCCTAGTATCTCTGCCCCTGCCTCCCTAATTAGCTAGGGCTGGGGTCAGCCACTGCCAATCCTGCCTTACTCAGGAAGGCAGGAGGAAAGAGACTGCCTCTCCAGAGCAAGGCCCAGCTGGGCAGAGGGTGAAAAAGAGAAATGTGAGCATCCGCTCCCCCACCACCCCGCCCAGCCCCTAGCCCCACTCCCTGCCTCCTGAAATGGTTCCCACCCAGAACTAATTTATTTTTTATTAAAGATGGTCATGACAAATGAGAAATGAGCTCTTCCTTGTCGGCTATGGACCCCTCAGCAGTGTGAAGGCAGAAGGTAGGGT
|
TGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACAGCTCTCCACATTGCCCCCTGGTGGTACAGGCCCGGCTCTGCGTCTACCCCTACTACACAGCCACCTGTTGCCGCTCTTGCGCACATGTCCTGGAGCGGTCTCCCCAGGATCCCTCCTGAAAGGGGTCCGGGGCACCTTCACGGTTTTCTGTGCCACCATCGGTCACCCATTGATCGGCCCACTCTGAACCCCCTGGCTCTCCAGCCTGTCCCAGTCTCAGCAGGGATGTCCTCCAGGTGACAGAGGGTGGCAAGGTGACTGACACAAAGTGACTTTCAGGGCTGTGGTCAGGCCCATGTGGTGGTGTGATGGGTGTGTGCACATATGCCTCAGGTGTGCTTTTGGGACTGCATGGATATGTGTGTGCTCAAACGTGTATCACTTTTCAAAAAGAGGTTACACAGACTGAGAAGGACAAGACCTGTTTCCTTGAGACTTTCCTAGGTGGAAAGGAAAGCAAGTCTGCAGTTCCTTGCTAATCTGAGCTACTTAGAGTGTGGTCTCCCCACCAACTCCAGTTTTGTGCCCTAAGCCTCATTTCTCATGTTCAGACCTCACATCTTCTAAGCCGCCCTGTGTCTCTGACCCCTTCTCATTTGCCTAGTATCTCTGCCCCTGCCTCCCTAATTAGCTAGGGCTGGGGTCAGCCACTGCCAATCCTGCCTTACTCAGGAAGGCAGGAGGAAAGAGACTGCCTCTCCAGAGCAAGGCCCAGCTGGGCAGAGGGTGAAAAAGAGAAATGTGAGCATCCGCTCCCCCACCACCCCGCCCAGCCCCTAGCCCCACTCCCTGCCTCCTGAAATGGTTCCCACCCAGAACTAATTTATTTTTTATTAAAGATGGTCATGACAAATGAGAAATGAGCTCTTCCTTGTCGGCTATGGACCCCTCAGCAGTGTGAAGGCAGAAGGTAGGGTNNN
|
benign
| 14,439 |
Variant on chromosome 1, at position 150559397, affecting ADAMTSL4 (ADAMTS like 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Ectopia_lentis_2,_isolated,_autosomal_recessive', 'Ectopia_lentis_et_pupillae']
|
GTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACAGCTCTCCACATTGCCCCCTGGTGGTACAGGCCCGGCTCTGCGTCTACCCCTACTACACAGCCACCTGTTGCCGCTCTTGCGCACATGTCCTGGAGCGGTCTCCCCAGGATCCCTCCTGAAAGGGGTCCGGGGCACCTTCACGGTTTTCTGTGCCACCATCGGTCACCCATTGATCGGCCCACTCTGAACCCCCTGGCTCTCCAGCCTGTCCCAGTCTCAGCAGGGATGTCCTCCAGGTGACAGAGGGTGGCAAGGTGACTGACACAAAGTGACTTTCAGGGCTGTGGTCAGGCCCATGTGGTGGTGTGATGGGTGTGTGCACATATGCCTCAGGTGTGCTTTTGGGACTGCATGGATATGTGTGTGCTCAAACGTGTATCACTTTTCAAAAAGAGGTTACACAGACTGAGAAGGACAAGACCTGTTTCCTTGAGACTTTCCTAGGTGGAAAGGAAAGCAAGTCTGCAGTTCCTTGCTAATCTGAGCTACTTAGAGTGTGGTCTCCCCACCAACTCCAGTTTTGTGCCCTAAGCCTCATTTCTCATGTTCAGACCTCACATCTTCTAAGCCGCCCTGTGTCTCTGACCCCTTCTCATTTGCCTAGTATCTCTGCCCCTGCCTCCCTAATTAGCTAGGGCTGGGGTCAGCCACTGCCAATCCTGCCTTACTCAGGAAGGCAGGAGGAAAGAGACTGCCTCTCCAGAGCAAGGCCCAGCTGGGCAGAGGGTGAAAAAGAGAAATGTGAGCATCCGCTCCCCCACCACCCCGCCCAGCCCCTAGCCCCACTCCCTGCCTCCTGAAATGGTTCCCACCCAGAACTAATTTATTTTTTATTAAAGATGGTCATGACAAATGAGAAATGAGCTCTTCCTTGTCGGCTATGGACCCCTCAGCAGTGTGAAGGCAGAAGGTAGGGTGGGCAGGGGAACAGCATTAGAGCCCAGGAGAGTTTGGGTCAGAGAATCCCCGCCAGCCCCAGGCCCTGCAGGCTGGTCATGGGCCACTAGAGGTCACCAGTTCTCCCATTTGAGGTGTGGGGCGCTGGGTTCCAGAGCTGAAGGAAGGGCTGCGCGGCCGCGGTGCGCTTTTTGGTGGGTCGAGTCTCTCTGGGAAGTCTCCGGGTATCTGCGCCTTTCCGCTGGGGCCTGAGCGAAGGGCAGTTGGCTTGTCGAAGCTCTTTTTTCCTGTTCCCTTTCTCTAGCCCTGCCTTCTGTCTCCCTTTCTGCCGTACGCATATCCCTACGCTCTGGGGCTTCTTCTGGGGTGGGGAAAGGGAAGGGATTCCTGCCCCGAGCCCTTCCCCTGGAGGAGGAGGAGCCCGGCCCGGCTCCAGGGCCCTGGGCGGGGCTGAGGGAGGAGCGGGGCAG
|
GTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCTGTCCCCAGATGATCAATGCAAGGACAGCTCTCCACATTGCCCCCTGGTGGTACAGGCCCGGCTCTGCGTCTACCCCTACTACACAGCCACCTGTTGCCGCTCTTGCGCACATGTCCTGGAGCGGTCTCCCCAGGATCCCTCCTGAAAGGGGTCCGGGGCACCTTCACGGTTTTCTGTGCCACCATCGGTCACCCATTGATCGGCCCACTCTGAACCCCCTGGCTCTCCAGCCTGTCCCAGTCTCAGCAGGGATGTCCTCCAGGTGACAGAGGGTGGCAAGGTGACTGACACAAAGTGACTTTCAGGGCTGTGGTCAGGCCCATGTGGTGGTGTGATGGGTGTGTGCACATATGCCTCAGGTGTGCTTTTGGGACTGCATGGATATGTGTGTGCTCAAACGTGTATCACTTTTCAAAAAGAGGTTACACAGACTGAGAAGGACAAGACCTGTTTCCTTGAGACTTTCCTAGGTGGAAAGGAAAGCAAGTCTGCAGTTCCTTGCTAATCTGAGCTACTTAGAGTGTGGTCTCCCCACCAACTCCAGTTTTGTGCCCTAAGCCTCATTTCTCATGTTCAGACCTCACATCTTCTAAGCCGCCCTGTGTCTCTGACCCCTTCTCATTTGCCTAGTATCTCTGCCCCTGCCTCCCTAATTAGCTAGGGCTGGGGTCAGCCACTGCCAATCCTGCCTTACTCAGGAAGGCAGGAGGAAAGAGACTGCCTCTCCAGAGCAAGGCCCAGCTGGGCAGAGGGTGAAAAAGAGAAATGTGAGCATCCGCTCCCCCACCACCCCGCCCAGCCCCTAGCCCCACTCCCTGCCTCCTGAAATGGTTCCCACCCAGAACTAATTTATTTTTTATTAAAGATGGTCATGACAAATGAGAAATGAGCTCTTCCTTGTCGGCTATGGACCCCTCAGCAGTGTGAAGGCAGAAGGTAGGGTGGGCAGGGGAACAGCATTAGAGCCCAGGAGAGTTTGGGTCAGAGAATCCCCGCCAGCCCCAGGCCCTGCAGGCTGGTCATGGGCCACTAGAGGTCACCAGTTCTCCCATTTGAGGTGTGGGGCGCTGGGTTCCAGAGCTGAAGGAAGGGCTGCGCGGCCGCGGTGCGCTTTTTGGTGGGTCGAGTCTCTCTGGGAAGTCTCCGGGTATCTGCGCCTTTCCGCTGGGGCCTGAGCGAAGGGCAGTTGGCTTGTCGAAGCTCTTTTTTCCTGTTCCCTTTCTCTAGCCCTGCCTTCTGTCTCCCTTTCTGCCGTACGCATATCCCTACGCTCTGGGGCTTCTTCTGGGGTGGGGAAAGGGAAGGGATTCCTGCCCCGAGCCCTTCCCCTGGAGGAGGAGGAGCCCGGCCCGGCTCCAGGGCCCTGGGCGGGGCTGAGGGAGGAGCGGGGCAGN
|
pathogenic
| 14,445 |
A mutation at chromosome position 150799231 on chromosome 1 in gene CTSK (cathepsin K): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Pyknodysostosis']
|
CCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACC
|
CCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCN
|
pathogenic
| 14,469 |
Gene CTSK (cathepsin K) variant at chromosome position 150799239 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Pyknodysostosis']
|
AGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAAT
|
AGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATN
|
pathogenic
| 14,470 |
Does the variant impacting CTSK (cathepsin K) on chromosome 1, position 150799589, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Pyknodysostosis']
|
GATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTATCCCAGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAACTACTGGGATTATAGGTGTGAGCCACCGTACCTGGCCACATCTCTTCTTTTTTAAATTTTATTTTTTCTTACCTTTCTCCATTCATAAACGAATAAAACACATTACAAAAATTGCAAAGGAAAATTAATCATTTTACTAATTTTACTATATTAAAATTAACTTTTTTTTTTTTTTGAAACGCAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTT
|
GATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTATCCCAGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAACTACTGGGATTATAGGTGTGAGCCACCGTACCTGGCCACATCTCTTCTTTTTTAAATTTTATTTTTTCTTACCTTTCTCCATTCATAAACGAATAAAACACATTACAAAAATTGCAAAGGAAAATTAATCATTTTACTAATTTTACTATATTAAAATTAACTTTTTTTTTTTTTTGAAACGCAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTNN
|
pathogenic
| 14,474 |
Considering the variant on chromosome 1, location 150799648, involving gene CTSK (cathepsin K), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Pyknodysostosis']
|
AGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTATCCCAGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAACTACTGGGATTATAGGTGTGAGCCACCGTACCTGGCCACATCTCTTCTTTTTTAAATTTTATTTTTTCTTACCTTTCTCCATTCATAAACGAATAAAACACATTACAAAAATTGCAAAGGAAAATTAATCATTTTACTAATTTTACTATATTAAAATTAACTTTTTTTTTTTTTTGAAACGCAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCACCTGCCACCAC
|
AGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTCGTTTCTTTATAAATTACCCAGTCTCGGGTATTCTTTTGTGGCAATGCAAAATGGACTAACACACTGGCCATTAAGTGTCAGACTGAGAATTAAGAGCCTCTGACTGAGAAGATAGAAGTGAGAACTCTGAGATAATTTTTTCTTGATTTGGGACAGAGAAAGGAATATCGGGAAGCTGGAGGTGAGGTTGAGTGTTAAAAGGGTGACTGAATAACAAAAGTAGTGTTCCCATCATTACCTGTTTTTAATTATCCAGTGCTTGTTTCCCTTCTGGATTCCATATCCCACTGCCAAAACTGCATGGTTCAGATTATCGCTATTGCAGCTTTCATCATAATACACACCTAGAATACAAACTACCAGCGTGAGGCTCTATGCAATCCAAGGGTCACCCTGTGGGATCTCCCAGTCTAGGAGACTGTTTGAAGAATTCCATCCGTGTCAGGAGGGTTTACCACAGAGATGCTGCTCCATACTGCAGCAGTTGTTAATTTCTCTCTGGCCACCTCCATGTGAATACAAAAACTAAGTACTGAAAATACCCAAGGTCCTTCGAGAAACCATCAAGTTTGTATCATAAAAGACAGTGCTGTATAGGATCAGCAGCTTCTTACCTTTGCTGTAAAACTGGAAGGAGGTCAGGCTTGCATCAATGGCCACAGAGACAGGTCCCACTCGGGCCACTGCCCTCTTCAGGGCTTTCTCATTCCCCTCGGGGATTTCTCTCTGTACCCTCTGCATTTAGCTGCCTTGCCTGTTGGGTTGTACATACAACTCTCTTCCTGGAAGAAACAAGATTGTAATAGGACTAGGACAAAGCAATAGGCAATGAGTCAGTGAGTAAGAAACTCAACCAATATTTTGAGTGATGCCAGTGAACTAACAGAGGCAGCAGTCTAGGGTTTCTAGAGAGGGTCTGTTCTTCCTCAGAAAAACGAATATGAAAAGAGGATTCCCGCCTTCCACCACACATAAAAACCAACTACAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATGCAAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGACCTTGTAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCGAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATCAACTACAGGTGTTTTAAGACATAAATGTGGGAGGAAAACAGTAGGGAAAGATTTCTGAAATAAGATTTTTTTAAAAAGCATAAACCATCTTCTGGCCACATAGTATGTATTAGCCTCAGGGGGCAGGAAGGCACCAGCTGCTGTGTGGGTAGGAGGCCAAGGCCAAGGCTTAGCTAGAGGGAAGACCTGGGCCCTCTGCACCTATATCAGGGGAACTGGTGTGATCCTTGTGCTCTCATCAAAGACAAAATATAAAAGTACATAACAAGACACTAAAATAGATTAAAGAACTTAGCAATTTAGCCTATGACTTCCAACACTATATTTTACAGGTAGTTAGCAATGTTTCATTGGCAAGCCACAATTATGGAATCGAATAATAGCCCATGTTAAGGTGGTGTATTCTTTTCAGCAATTCATTTTCCTACAGACTACCCCTTCAGAACCCTAAGGTTGCATCCACAAGAACTTATTATCTACTACTCAGCAGGCTGAGGCAGGAGGATTGTTTGTGCCCAGGAGTTTGAGCCTTTAGTGTACTGTGATCATGCTGTGAATAGCCACTCTACTCCAGCCTGTGCAAGATAGTGAGATACCCTCTAAAAAAATACATTATCTAACATTATCTAAATATTAACAGCAATAGCAGCATTTGATATGCCATTTTAAGATTACAGTGGTCTACTGCCTTGATATTTTTCAAGATGCCTTTGTTTCTGCCATGTGCTCCAAATCCCTGATGCCTCCTGGTGCCAAAAATTACACAGAATTACAAGTGAAACAGAATATCTTGGAAATTGACTCAAAAAGATATTATGTGATGATACTTTAAAGTCAGAATAACCTGCATTATGCTGGAACAAACTTATAATACCATCCCTTTAAAATGTTATCTGGCCGCCCTATCAGATCTCTTCTTTTTTATCTTTTTATTTTTTGAGACAGAGTCTCTGTTACCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCGAGCAATTCTCCTGCCTCAGCCTGCTGGGATTACAAGCGTGCGCAATCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTATCCCAGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAACTACTGGGATTATAGGTGTGAGCCACCGTACCTGGCCACATCTCTTCTTTTTTAAATTTTATTTTTTCTTACCTTTCTCCATTCATAAACGAATAAAACACATTACAAAAATTGCAAAGGAAAATTAATCATTTTACTAATTTTACTATATTAAAATTAACTTTTTTTTTTTTTTGAAACGCAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCACCTGCCACC
|
pathogenic
| 14,476 |
Clinically, how would you classify the variant at chromosome 1, position 150804212, gene CTSK (cathepsin K): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Pyknodysostosis']
|
GCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGT
|
GCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTN
|
pathogenic
| 14,481 |
Mutation at chromosome 1, position 150805864, within CTSK (cathepsin K): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Pyknodysostosis']
|
ATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTT
|
ATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGT
|
pathogenic
| 14,486 |
Assess the variant on chromosome 1, position 150805969, impacting CTSK (cathepsin K): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Pyknodysostosis']
|
ATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTA
|
ATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTANN
|
pathogenic
| 14,489 |
Regarding the variant found on chromosome 1 at position 150806144 in gene CTSK (cathepsin K): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Pyknodysostosis']
|
GTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGA
|
GTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGANNNNNNNNNNN
|
pathogenic
| 14,495 |
Variant in gene CTSK (cathepsin K), located at chromosome 1 position 150806186: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Pyknodysostosis']
|
TAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTG
|
TAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTT
|
pathogenic
| 14,496 |
The chromosome 1, position 150806722 genetic variant in gene CTSK (cathepsin K): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Pyknodysostosis']
|
TAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGC
|
TAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGG
|
pathogenic
| 14,501 |
Benign or pathogenic: chromosome 1, position 150806757, gene CTSK (cathepsin K) variant? Disease(s) if pathogenic?
|
pathogenic; ['Pyknodysostosis']
|
TTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGCTCCAGAATTCTTTGTATTTTTATAAGCTTGTTGGT
|
TTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTAAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGCTCCAGAATTCTTTGTATTTTTATAAGCTTGTTGGTN
|
pathogenic
| 14,502 |
Mutation at chromosome 1, position 151346264, within RFX5 (regulatory factor X5): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['MHC_class_II_deficiency', 'MHC_class_II_deficiency_3', 'MHC_class_II_deficiency_5']
|
TCAAGTCCAGGCAGGGGTGGCATAGACACCAAGGTCTTCCTCCTTATGCCACTGTAGCAATATCTGATGCAAGTTAAAGAGCAGCCAACACATGGCGATCTCCAAGCCCCTCGAGCAAGTTAAGCTGTTCCACTCCTTGCTCTCCACATCCTAAGTCTTCCTCCCAGGTCCTCCACCCCCAACCTCTCTAGTCAAGGATACTTGGACTGGCCCCGGCCACCAAGCCTTCGAGCTTTGATGTCAGGGAAGATCTCTCTGATGATCTTGCCAAAGTTGGCTGTGCTGAGTGGGCGGCAACAGGCAAGACTCTCACAGTACTTCCTGAGTGAGAGGGGAGCAGAGTGGGAAGATACTCAGAGAAGGAGGCCATGGGTAGGCTCGAAGAGTCCCTAGGGATCAAGTGTGAGGAACCCTTTAAGAAGGCAGGCTTTATCAAGGCAGGAAGCTCTTCATGGGTGAGGGGGTCCTATGCCCACCAATCCACTCATCCCACCACCCACCCCTCCACCCACCGATAGGCATCATAAACACTTTGCTTTGGCAGACAGGTGTCAGTGTGCTCTTCCAGGTGGTTGCGGATCCACCTATAGGCATACATGTACTCCTCATTGCTCAGTGTACTTGGCTCTGAGCTACAGAAACAAAAGGAACAAGCATTACTAAGACCCTAACAGTTGTCCTGGTTCTTCCCAAACTACCACTTCAGTAGTGCTGGACCAAATTTAGTTCACCCAGAATCTAACTTTCCCTGGTAAACCAAGTCAGGGCGAGGACCTTTCCTCTTCATCAAGGACAGCATTTACGAGTATTCCTATTCACCTCACCCCTTCCCAGTGAACCTTTCTCTAAGAATCAGAACCTCTGCCATCTAAAACTACTATCAAACCTACCTTTTGTCTCCAGTGGTGGGTCCTGAGGGGAGCTGAAGGTAGAGATACAGCTTGTCATTGTCAGAAAATTTCTGTACATCTTGCTGAGGTAGGAGAGAACAGAGGCAGGAGAAATAATAAGGCCAAGAAGGACCCAATATAGGACCCTCTGATCCCCACACCAAAGTCTAGCTGACTTACAGGGTGTCAGACTGAAAAAGGACCTTAGAAATTATTTGACAAGGCCGGGCACGGTGGCTCACGCCTACAATCCCAGCACTTTGGAAGGCCAAGGCAGGCTGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAAAATTAGCTGGGTGTGGTGACGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAATTATTTGATGCTAGGTGCTCTGAGGAGCCCTATAGGCTACCATGGAGAGGAGGGAAGTAGAGGGGATCAGCTCTGACTTCATCTCTGCTGGGCTTCTATGCAAGTGCTCACAGAGATCAAGTGAGAGGCACAAAGTCAAACTGGCAGCAAGTTTGCAAAGCCAACTATCTTCTGACAAGGCAGAGGACCCTACCTCTCCCACATCAATGTTTTGTTGATGCCCATCATCCTCACATCCTCCTCCCTCAGCATTTCCATCCCTCTCTTGCCCTCTTCCCCAACACACTTACCAGGATCCCCTCTACTTTGTTCTGCACGGCCTTGCTGTGGGGAAGAGGAGAAAGCTGGAGGTCACACACAAGATTTTCCCTGTCTCTTTATCTGACTGCTAGGGAGGGAAAAGGACTGAAATGCCCAGCAGGTGCTCAAGAATTGCTACCATGGCCAAAAATCTCCCTCTGCTCCCATGCCCTTGCTGAGAGGCAGTTCATCTACAGCCAAAGTGAAGTGCTGCAGGGATCTATACTCAGGTCTTGGACAGGACTTGGAGATGTGATGAGTACTTACGAAATGGTACCTCGGAGCCTCTGAAGAAGGGTGGTAGGTTCCCCAGCCTCAGCACCACCTGGGGGGGCCCTTCCCCCAGTCTTGGGGCTCTTAGCATCAGGCTCATCTTCTGCCATCCCGGCATGAGGGCTAGAATTGAGAGGGACAGGCATAAAGATGTAACTCACACTGGCCTTCCCTTCCCCAGAAGGCCCCAGGGCACTCCTCATCTCTTTACCCAGAAAGGCAGAGAAACAGAAACAAAGCCTCCGAATTTCCCCGGTGGTCTTTTTCTCACCACTTGCCTTCTCCGAAAATTAGAAATTATTCCATTACTTCGCCAGGCCCATATATGCCCAAAGAGATCTTTGCCATCTCCATTCTATCTGCCCCACCTTTCTGAAGTCTCCTAAATCTGGAAAACTGTAAAGGAAGAGATAGGGGGATTGGGAATCCATGTTAGCAAGAAATTTTCATTTCTGCCTCTGACCCCATACTGCCCTCCTCCCCCTCAAAAACAACAATAACAGCCACAAAACAAAGTTCTCTAATTCTCAAAAATACTCCTCACCATTGCATATGCCTGGGAGGTCAGAAAGGATACGAACATATTCTGCCCTTCTAGGCTTGGAAAAAAAACTGGGCCCAAGTTCTCATTACTTAATCTCGCCACGACTTCCCCCGCTGCTCCCCCTCCCCACGTCGCCGGCCCCTACGTCATCTCCCACAACAGCCCATCCTGAGGCGCGCCCCCACCTCCTTCCCTTCCCCCTCCATTCAATCCCCGGTTTCTGCAAAGTGGAGCGGGGGTGGGGCGGGGTAGCGGAACTCATGCGCTGGGCGTCAGAAACCCGGCAGGGGAATGGGGTCCCAGATTCCGGGCACGTGCACATGGGTGAAGAAGCTGTTGAAAATACAGCTACAATCTTTTTCTGCTCTCCTCCCAACTCATCTTGCCCCTCCCTACCTCTGAACAGTCGCCTTCCAACACAAGCAACAATAAAGGTAAGGGAGAAAGAGAAACTACCTCGTAGCCACCTTCACTCCAGCCCAGCCCCAAGGTCCTGGCCCAGCCGGCTCGTGCGTTGCTTTATTTTCCTTTTTCTGAATGGTTGTAACAGCCGCGATCTGCCTAGATACACGGGCGGCCTGCTCTGTCATTGGTCACTGCTGCCACCCGGAGACAGAAGGCGCCGGGCTCGTACCGGCGGCCGCTGAAGTCTGCCTGGTAACAGAATCTGATTGGTCAATAGGGGAGGGAAAATCCAAAGTTGGTCTTATTTGAGTCAAGAGGGGGAAGTCCGGGTTGGGTTTCGGTTAAAACTGGGGTCGGTTGGGACTGCAGGTCCCAAGAGGTTCTTCTCTTAAAGGGACCGCAGGATGAAAGAACGGGCGCTCGGCTCCCTTTGGAACTGTCTTTTCTTTTGCCCTCCCCTTTTGTGTTTCAGTTTAGTCTACGGTCCTCAGAGCTGCCGGAAGAGAAGAATCAATGGATGATAAAATAACTAGACAATGATGGGTAGGAGTGATGGAAGTTCACTGTAAGCTCCTATAACCCCCCATCACCATCACCACATGCCTAATACAACCTGCAGACACACTTACTCGCAACAGACCTGCAATCTGGGCTCTCTTTTCCTTCTTGATGGAGGCCTCAAAACCTCAGCAGTTGTACCCATTAAACTAAAATGCTTTTTCCCTCTTAGTATTTCTTGGTTTCCCGTGTGTACTTTACTTCCAAAGAGTTGCAAATGCATTTGCATCCCCATAGTTCTGCAGTCGGTGAACCCTGGAATTTTGATGGACTCCCACGGGGGTGCTGGATGCCACAGGAACTTTTTACACTCAGGGAACATTGTACTGAATAGGTCATGGGTTCTTAACCCTCTTACTTAAGACATTTTAAGGTTATGAATCAGACAAAAGCAATGGACCCTCTACCATGAAAAATGCACACAGAGACCAAGTTTTGCATCTAATTTCAGAGAGGTCATGGACTCCAGGTTGAAAGCCTCTTACATGGATGTATTTTGTTTTGCGCAGCGGTCATGTTACAACCAAAACTGTATTTGCCATCCTGACATCTAATATGTTCTCCAGGCTCATCATTAATGTGCTTTTGTAAAGA
|
TCAAGTCCAGGCAGGGGTGGCATAGACACCAAGGTCTTCCTCCTTATGCCACTGTAGCAATATCTGATGCAAGTTAAAGAGCAGCCAACACATGGCGATCTCCAAGCCCCTCGAGCAAGTTAAGCTGTTCCACTCCTTGCTCTCCACATCCTAAGTCTTCCTCCCAGGTCCTCCACCCCCAACCTCTCTAGTCAAGGATACTTGGACTGGCCCCGGCCACCAAGCCTTCGAGCTTTGATGTCAGGGAAGATCTCTCTGATGATCTTGCCAAAGTTGGCTGTGCTGAGTGGGCGGCAACAGGCAAGACTCTCACAGTACTTCCTGAGTGAGAGGGGAGCAGAGTGGGAAGATACTCAGAGAAGGAGGCCATGGGTAGGCTCGAAGAGTCCCTAGGGATCAAGTGTGAGGAACCCTTTAAGAAGGCAGGCTTTATCAAGGCAGGAAGCTCTTCATGGGTGAGGGGGTCCTATGCCCACCAATCCACTCATCCCACCACCCACCCCTCCACCCACCGATAGGCATCATAAACACTTTGCTTTGGCAGACAGGTGTCAGTGTGCTCTTCCAGGTGGTTGCGGATCCACCTATAGGCATACATGTACTCCTCATTGCTCAGTGTACTTGGCTCTGAGCTACAGAAACAAAAGGAACAAGCATTACTAAGACCCTAACAGTTGTCCTGGTTCTTCCCAAACTACCACTTCAGTAGTGCTGGACCAAATTTAGTTCACCCAGAATCTAACTTTCCCTGGTAAACCAAGTCAGGGCGAGGACCTTTCCTCTTCATCAAGGACAGCATTTACGAGTATTCCTATTCACCTCACCCCTTCCCAGTGAACCTTTCTCTAAGAATCAGAACCTCTGCCATCTAAAACTACTATCAAACCTACCTTTTGTCTCCAGTGGTGGGTCCTGAGGGGAGCTGAAGGTAGAGATACAGCTTGTCATTGTCAGAAAATTTCTGTACATCTTGCTGAGGTAGGAGAGAACAGAGGCAGGAGAAATAATAAGGCCAAGAAGGACCCAATATAGGACCCTCTGATCCCCACACCAAAGTCTAGCTGACTTACAGGGTGTCAGACTGAAAAAGGACCTTAGAAATTATTTGACAAGGCCGGGCACGGTGGCTCACGCCTACAATCCCAGCACTTTGGAAGGCCAAGGCAGGCTGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAAAATTAGCTGGGTGTGGTGACGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTAGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAATTATTTGATGCTAGGTGCTCTGAGGAGCCCTATAGGCTACCATGGAGAGGAGGGAAGTAGAGGGGATCAGCTCTGACTTCATCTCTGCTGGGCTTCTATGCAAGTGCTCACAGAGATCAAGTGAGAGGCACAAAGTCAAACTGGCAGCAAGTTTGCAAAGCCAACTATCTTCTGACAAGGCAGAGGACCCTACCTCTCCCACATCAATGTTTTGTTGATGCCCATCATCCTCACATCCTCCTCCCTCAGCATTTCCATCCCTCTCTTGCCCTCTTCCCCAACACACTTACCAGGATCCCCTCTACTTTGTTCTGCACGGCCTTGCTGTGGGGAAGAGGAGAAAGCTGGAGGTCACACACAAGATTTTCCCTGTCTCTTTATCTGACTGCTAGGGAGGGAAAAGGACTGAAATGCCCAGCAGGTGCTCAAGAATTGCTACCATGGCCAAAAATCTCCCTCTGCTCCCATGCCCTTGCTGAGAGGCAGTTCATCTACAGCCAAAGTGAAGTGCTGCAGGGATCTATACTCAGGTCTTGGACAGGACTTGGAGATGTGATGAGTACTTACGAAATGGTACCTCGGAGCCTCTGAAGAAGGGTGGTAGGTTCCCCAGCCTCAGCACCACCTGGGGGGGGCCCTTCCCCCAGTCTTGGGGCTCTTAGCATCAGGCTCATCTTCTGCCATCCCGGCATGAGGGCTAGAATTGAGAGGGACAGGCATAAAGATGTAACTCACACTGGCCTTCCCTTCCCCAGAAGGCCCCAGGGCACTCCTCATCTCTTTACCCAGAAAGGCAGAGAAACAGAAACAAAGCCTCCGAATTTCCCCGGTGGTCTTTTTCTCACCACTTGCCTTCTCCGAAAATTAGAAATTATTCCATTACTTCGCCAGGCCCATATATGCCCAAAGAGATCTTTGCCATCTCCATTCTATCTGCCCCACCTTTCTGAAGTCTCCTAAATCTGGAAAACTGTAAAGGAAGAGATAGGGGGATTGGGAATCCATGTTAGCAAGAAATTTTCATTTCTGCCTCTGACCCCATACTGCCCTCCTCCCCCTCAAAAACAACAATAACAGCCACAAAACAAAGTTCTCTAATTCTCAAAAATACTCCTCACCATTGCATATGCCTGGGAGGTCAGAAAGGATACGAACATATTCTGCCCTTCTAGGCTTGGAAAAAAAACTGGGCCCAAGTTCTCATTACTTAATCTCGCCACGACTTCCCCCGCTGCTCCCCCTCCCCACGTCGCCGGCCCCTACGTCATCTCCCACAACAGCCCATCCTGAGGCGCGCCCCCACCTCCTTCCCTTCCCCCTCCATTCAATCCCCGGTTTCTGCAAAGTGGAGCGGGGGTGGGGCGGGGTAGCGGAACTCATGCGCTGGGCGTCAGAAACCCGGCAGGGGAATGGGGTCCCAGATTCCGGGCACGTGCACATGGGTGAAGAAGCTGTTGAAAATACAGCTACAATCTTTTTCTGCTCTCCTCCCAACTCATCTTGCCCCTCCCTACCTCTGAACAGTCGCCTTCCAACACAAGCAACAATAAAGGTAAGGGAGAAAGAGAAACTACCTCGTAGCCACCTTCACTCCAGCCCAGCCCCAAGGTCCTGGCCCAGCCGGCTCGTGCGTTGCTTTATTTTCCTTTTTCTGAATGGTTGTAACAGCCGCGATCTGCCTAGATACACGGGCGGCCTGCTCTGTCATTGGTCACTGCTGCCACCCGGAGACAGAAGGCGCCGGGCTCGTACCGGCGGCCGCTGAAGTCTGCCTGGTAACAGAATCTGATTGGTCAATAGGGGAGGGAAAATCCAAAGTTGGTCTTATTTGAGTCAAGAGGGGGAAGTCCGGGTTGGGTTTCGGTTAAAACTGGGGTCGGTTGGGACTGCAGGTCCCAAGAGGTTCTTCTCTTAAAGGGACCGCAGGATGAAAGAACGGGCGCTCGGCTCCCTTTGGAACTGTCTTTTCTTTTGCCCTCCCCTTTTGTGTTTCAGTTTAGTCTACGGTCCTCAGAGCTGCCGGAAGAGAAGAATCAATGGATGATAAAATAACTAGACAATGATGGGTAGGAGTGATGGAAGTTCACTGTAAGCTCCTATAACCCCCCATCACCATCACCACATGCCTAATACAACCTGCAGACACACTTACTCGCAACAGACCTGCAATCTGGGCTCTCTTTTCCTTCTTGATGGAGGCCTCAAAACCTCAGCAGTTGTACCCATTAAACTAAAATGCTTTTTCCCTCTTAGTATTTCTTGGTTTCCCGTGTGTACTTTACTTCCAAAGAGTTGCAAATGCATTTGCATCCCCATAGTTCTGCAGTCGGTGAACCCTGGAATTTTGATGGACTCCCACGGGGGTGCTGGATGCCACAGGAACTTTTTACACTCAGGGAACATTGTACTGAATAGGTCATGGGTTCTTAACCCTCTTACTTAAGACATTTTAAGGTTATGAATCAGACAAAAGCAATGGACCCTCTACCATGAAAAATGCACACAGAGACCAAGTTTTGCATCTAATTTCAGAGAGGTCATGGACTCCAGGTTGAAAGCCTCTTACATGGATGTATTTTGTTTTGCGCAGCGGTCATGTTACAACCAAAACTGTATTTGCCATCCTGACATCTAATATGTTCTCCAGGCTCATCATTAATGTGCTTTTGTAAAG
|
pathogenic
| 14,568 |
Clinical classification of chromosome 1, position 151405577, gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Neurodevelopmental_disorder', 'POGZ-related_disorder']
|
TTTTGGTTTACAACCATGAGTACATACAATTAAAAAAATCCCTCATGCAAATTGTAGAAAAAATTTTCTTTCCTTGAAGCTGGCAGTGAAAAATAAAGATTCATGTCATTTTCTTTGTGCACACCCCTGTGCGCTTCTTCCTGTCAGATTCTTCCCTAAGTATTAAGAGAAATAGGGGAAAGCCACAGAGCACGCTGGATTTCAACAAGTGGTCTTGTCTTTTTAAAGTTCAACACTTCTTGAACAATTAGCTCCTGGCTGTAGGACCAGTAATCCCTTAAACAGGCATGCTCTCCATCTAACAGGATGAAGTTCAGTAAAGCAGGGACTGCCCCTGGGGGCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTC
|
TTTTGGTTTACAACCATGAGTACATACAATTAAAAAAATCCCTCATGCAAATTGTAGAAAAAATTTTCTTTCCTTGAAGCTGGCAGTGAAAAATAAAGATTCATGTCATTTTCTTTGTGCACACCCCTGTGCGCTTCTTCCTGTCAGATTCTTCCCTAAGTATTAAGAGAAATAGGGGAAAGCCACAGAGCACGCTGGATTTCAACAAGTGGTCTTGTCTTTTTAAAGTTCAACACTTCTTGAACAATTAGCTCCTGGCTGTAGGACCAGTAATCCCTTAAACAGGCATGCTCTCCATCTAACAGGATGAAGTTCAGTAAAGCAGGGACTGCCCCTGGGGGCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCNN
|
pathogenic
| 14,584 |
Is chromosome 1, position 151405993, gene POGZ (pogo transposable element derived with ZNF domain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Global_developmental_delay', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Speech_apraxia']
|
CTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAA
|
CTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAN
|
pathogenic
| 14,593 |
The chromosome 1, position 151406185 genetic variant in gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic? If pathogenic, indicate disease(s).
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pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']
|
ATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCA
|
ATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCC
|
pathogenic
| 14,600 |
Chromosome 1, position 151406266, gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']
|
TTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACA
|
TTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAAC
|
pathogenic
| 14,604 |
A genetic variant on chromosome 1, position 151406387, affects the gene POGZ (pogo transposable element derived with ZNF domain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']
|
TCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGAT
|
TCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATNN
|
pathogenic
| 14,606 |
Determine whether the variant at chromosome 1, position 151406934, in gene POGZ (pogo transposable element derived with ZNF domain) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']
|
ACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATG
|
ACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGNN
|
pathogenic
| 14,612 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 151408150, gene POGZ (pogo transposable element derived with ZNF domain): what disease(s) if pathogenic?
|
pathogenic; ['Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Smith-Magenis_Syndrome-like']
|
AGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGA
|
AGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGANNNN
|
pathogenic
| 14,619 |
Regarding the variant found on chromosome 1 at position 151408165 in gene POGZ (pogo transposable element derived with ZNF domain): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome']
|
AGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGAAAATAAAAGCAATAA
|
AGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGAAAATAAAAGCAATA
|
pathogenic
| 14,621 |
Variant chromosome 1, position 151408480, gene POGZ (pogo transposable element derived with ZNF domain): benign or pathogenic? Disease(s)?
|
benign
|
CGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGAAAATAAAAGCAATAAAAAACTCTTCTTTGCCACTTCTTCCTCTGGATTTACCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGT
|
CGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTATTGCACTCCAGCCTAGGGGACAGAGTGAGACCCTGTCTTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAAAAAAGAATCTGAACTCTCAAGCTAAAACACTGGTTAAAAACCAACTTACTTGATCATGTGGTTGGCATAAGCTCGAGAACAGCAGGTGCTATAGCGACACAGAGAGCAGTGTACGTAAGTAGGGAAATGATTAGGGAAGTCTGGGATCTCGAAGCTGCACTCCAGGCATGTCTGCCGGCCCATGACACTCCTGTGGGGGAAAAAAAAAAAGAATTCTCATTACTGCCTCATGGGTCCCCAAAATGTAGGATTTTCAGACAACAAACCCTGCTAAAAAGCTACCAGATTGCACTGTGTATCAGGAATAATCCTGGCCACCCAGTCCCCACCCGCCCAGCACTTAGAAGAAGGCGCTGACATTTTCCTAACAGCTCTCTTCTGGATGCTGCGCTGGACAGGGGGATAAAGGAAGACAGGCAGAGGGTCCATTGAGGTCAGCGGTGCTGCCTCCTGCAAGGCGCTGGGAGGTGTATCATTAGAGGATACAGGAACAGTTCGTGGCTGCCCTCGGGAAGCCCGGATTGTCACCTGAGAACCAAGGGAAGTAACAATGAGACATCACCCACACTAAATTTCAGAATACTGAAAATCTCTATTCCTCCCTCCCTGGGCCTATAAAAGACACTGGCAAACTCTTTACCTTGGTGCCTGGTTTCAAGCCCTCCAGCTGCTTGGGTTTACGGAAGGTTTTATGGTGTTGAAGCTTGTGTTCAATTTTGTCCTTGGCAAAGAGAAACTGCAGCCGGCATTTGTTGCAGTGATAAACATTTCTCTTCTGAAGTGGGGGAGGGAAAAAAAGAGACAAAATCCCTTAAAGGTTCCTAATAAATTTTCTTTTTTGAGGAGAAAGCAGATCAATGTCAACCATATCATTCTTCCCACCTTTCTGTTGATAATTTAAGAGAGTAAGAAAGAAATATGCAACATGACCACAAAACCTACCATTGAGAATCATCACCTCCCATGATATCAAAGAAAGATGGATTCTAGTCCAGGATGACTAAGTTCTCAAATCATCCTTTCCTGACTTGTTTTAACAATTTGAATGAGTGATGTAACCTTTATTTGTATTATATCTTTACACTGCTGACAACTGGACATTCTTCTGGACATTCTTCATTCTTCTTTTTTTAAAAAAGGACAATGTACATAGTAAACTAAAGTCATACTTTTTTTTCTATACTCTTCCAACTTTGCTTTCAACTCCAACACTCAGTCCCCTTCCATACAAACAACTTATTACCAGTTTCCTGAGTATGCTTTCGTGGGCAGTCTACACATATAACTGTATCACAAATACATTCATATCCAATCATTACCTGCCTCGCCCCCTTTTTTTGAGACAGGGTCTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGCATGTTCATAGCTCACTGCACGTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCCGGCTACTTTTTGTATTTTTTTGTAGAGACGGGGTGTCACCATGTTGCCCAGGCTGGTCTTCAACTCCTGGGTTCAAGTGATCTACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGCATCACTGTGCCTGGCCCTTACTTTTTTCCCTTTCCTTTTTGTAGAGATGTTGTCTCACCATGTTGCCCAGGCTGGACTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCTCTTCTTTTTCTCCTTTTAACACAAATGATAGCACTTGTCTATACCTTGCTGTTTTCTCACTTAACACATCAGTATATACAGATATGTCTCCTGGTGAGACCACTTTGAGGATTCAGTCTGCCTAGTATTGAAGTCCTTCAAAAATAGAACCCATGTCTATGATTTTCTTTAGTAGGATAACAAAGCTCTGTAAGCTTAGGCTAAGAGACAATTTCCATGCCCCTATTTGGAAATACAGTTGTGGTAGACAATCAGCAGTCACTACTGTGCAAAGGAGACTATGAGTGTAATAGGGTACATATGTTTGTGTGCATATGTATGTGACTATTAAGCACACATGCACTCATCTTATTCTCCATTTTGAATCCTCTCTTATATACTATATACCTTTCACTCTCCTCTAGTGGCTCTCTTCTTGTAGTATTTTAAAACGAAGTCATAGCTTTTCATCTTATAAGGAAAATAAAAGCAATAAAAAACTCTTCTTTGCCACTTCTTCCTCTGGATTTACCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGTNNN
|
benign
| 14,624 |
Gene POGZ (pogo transposable element derived with ZNF domain) variant at chromosome 1, position 151424958—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-microcephaly-strabismus-behavioral_abnormalities_syndrome', 'Neurodevelopmental_disorder', 'POGZ-related_disorder', 'dysmorphy', 'intellectual_deficiency']
|
CTTAATTTCTTTGAGCTTATGTCCAGCCTACATGTATAAAATATACAGTGTAGAAAACACTCCAGCTCATCTTATATTTCATTGAAAGCAATGTCTTAATGATAAAGTACTTCACAATATTATCTTTTAGCCTACATAAAACCTATCAGGGTTTAACTAAAGTGGAAGAGCAAATAGATGACTGTTCCTTCTATAAAGAGACCTAAGAAATAAATTAATTACATTTGTTTTTCTACAGTGGTTCTGAATCAACGCCCCTAACAATTCAGGATCTAACACTGAACTCAATCCATGCTTGAACAAAATAAAAGTCAGGCTTGTAAAAAAAAACAAGGTGAATGAAGTAAAGAACTGGCTACAAATATGAAAAGTACTTCCTCTACACTGTTACCCACATGTAAATAAATATAATGGGCTCCCCCCAGCGCCATTCAATGAGTGAACAGCAAGGTATATTCCCCTTGAGTTTAAGAGTTTCCAAACTTACTAGTAGATTCATAGGGACTATGAACATTTTCCAAGTGGCACTGAAGCTGGAAGGGAGTGGAAAACTGGCGGTAACAGTGCTGGCAGATAGTGTGACCATCTACCTCACCGTTCTGCTGATCGAGTTCTACGTGGTGTTTCATATGGTTCATGAATCTGTAATAAAGCACAAAGAGAAAGTACAGAAAACATAAAAAATTGGTAGCCTTTTAGAAATATAATGGTAAAATCACAGAACAAACATTATCTGCTCCCCTCCATTCCCCAGACTTCCTGTTTGGGATATCCTTTTCTGAGCCCAGAAAGATAATGAGTTCTTGAAACTAAGAGAGTTCTGGGAAAGGAGACATACTGCTTTCCCTTACTCGATCCAGTTACCTTTTGTTTATTACCACAATATCTCCTTCTATAGTCCTAGTTATTGATTTAATGATAACCCCAGCAAGACTGCATAGTAGTTAGGTCCATTCTCCAAAGAGAAAGACTTAAAATATATAAGAAAATGTAAGTCTTCTCTTGTTCAAGGTAACTTCCAAGGCTCTTAAACACTTACCGAATATTGTTTTTTAGCCTTTTGGTACAATGTGGGCATCGGAAAGATGTGGCGACCTTAGGGAAATTTGTGAGCTGGGCTACTTTGCCACCATCCCGTCCATAGTAGAAGTCATCTACAAGCATAATGAGTTTGGTCTGGACGGCATCGCCCACGTTCTCATTTGGTTCTGGTACTTTGGTAGGCGGTGACAGAGCAGGAATAGGTGTAGAAGAGGGTGTGGAAGCAACAGGAGCTGTTTTCTCAGGGGATGGGGGCTTTGCTGCTGATGGGACACTGGGTTCTGAATCCAGGGACTTTCCTTTCTTCTGGTATTCAACCATTTCTGGGCAACAGTACTATAAAGAAAGACATCTGATCATTCTGGTTATCCTGGGGGCTAGAATGTGCTAACTCCTTAACTTCACTACCATTCCTTGTTAACGGTTTGGTTTCAGGTATTCTCATTCAGCTTTCACCCTTCAGTTTTTTTTAGCGTTTCCAAGTTTTACTCCTTTTCTAGAGTATATCCACATATGCCACCCAAGCGCTATACTTTGTATTTCTCCCTCCTGCCTGTCTTAGGTCCCTTAATCATTAGTATAACTTGGCTCTGAGCTCCCTGGCAAAGAAGAAGTTCCAACCTTTTTATCTGGACTAATACCAAAAAATGAAAAGCTAAAAAATGGAAGTAAGAGCTCCCGATTCATCCAATGACACAATTAACAAAAATGAACTGAGGCCAATATGGTTTGAGTCCTTATTATCTATAAACCTGTTCTCCTGTGTGGTTTCAAAATCTACCACACTAAGAAAGTAAGATCACATATGTTCTGATCTATTTGAGGGTCTTTAAATGTATCCCATCACATTCCAAAGTACACAGCTCTTCTAAAAACAGACCAAGAGAAACAGTAACCCTTTAAAAAGCTTCAGTCATTTTAGAGCCCCTGCTTACAAGCTTCCAATATTAATGAAGGTAAATGGCAGAAGCCACTTAAGCTGGATCACAGGTGATATCACTTACACACATGTGACCTCTCAAAGCTTCAGTAACACGAAATTGAGCATTACATCGTGGACATATTTTCCGTCCACCATCCTGGAGGTCAAATACTGGGATGGAAGAGGTCACTGAAAGAAGTGAGAAGAATTGATAAGATTAATACAATGACACTGGAAAAAGATTACTGACCTTTTGGGAAAAAGTCAAACACTCCCTGAGAAGTATATAAAAGGGTAAGCAAGCATGAGAGATCACTATGGTTTTTGTTTGTTTTTGTTTTTTTTGAGACACGGTCTCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCACAGCTCACTGCAGCCTTGACCTCCCTGGGCTCAAGATCACTATGTTTGAGGCTTCCTTTTACTGTTCTAACTCTAGGCCAGGGGTCAGCAAACCACAGCACACAGATCAAATCCAGCCCAGCTACCAGTTTCTGTTTGGCCCATAAGCTAAGAATAATTTGTATGTGATTTTTTTGTTAAGGTTTTTGTTTTTTTTAATCTTGCAGAACTGAAGCTATATCCAATAAAAACCTCCTCACCATTCTCCCCTCGCCTCCACCCCGGCAACCACAATTCAACTTTGTCTCTATGAATTTGACTACTCTAGGTACCTCAAGTAAGTGGAATCATATGGTACTTGTCCTTTTGTGACTAGCCTATTTCACTTTAACATAATGTCCTCAAGGTTCAACCATGTTGCAGCACATGTTGTAGCAGAATTTCCTTTCTTAAGCCTGAACAATATACCATTGTATGTGAATACCACATTTTATTTATCCCTTTATCAGTTGATGGACCTCTGTGTTGCTTTCACCTTTCAGCTATTGTGAATAATGTTGCAATGAACATAGGTGTACAAATACCTGTTCTAGTCCCTGCTTTCAATTCTTTTGGGTATAGAATGGAATTCCTGGAGCATACAACAATTCTATCATTTTTAACTTTTTGAGGAACCACCATACTGTTTCCAAAGTGGCTGCATAATTTTACATTTCCACCAACAGTGCGTAAGGGTTCTGCTTTCTCCACATCCTCAACAATATTTGTTATTTTATGGTTCTTTGATAGTAGCCATCCTAATGGGAGTGAGACGGTACCTCATTGTGGTTTTGATTTGCATTTCCATAATGATTAATAACACTGAGCACCTTTTCATGAGCTTATTGGCAATAACTTTCTTTGGAGAAAGGTCTATTCAGTCCTTTGCCTACTTTCCTACTTTTTTTTTTTTTTTTGAGATGGGGTCTTTCTCTGTTGCCCAGACTGGAGTGCAGTGGCACAATCTCGACTCACCACAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGTCTCAGCCTCCCGAGCAGCTGGGAATACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATTATTGGTCAGGCTGGTCTTGGACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCACCACGACCAGCGAGTCCTTTGTCTATTTTTTAAAAAGGTTGTTTGGGAGTTTTTTTGTTGTTGAACTGCACAAATTCTTTATATATTCTGGATATTAACCCCTTATTAGATACATAATTTGCAAATATTTTCTCCCATTCTGTGGCTTCCCTTTTCACTGTGTTGACAACGTCCTGCACAAAAGTTTTAAATTTTGATATAATTTAATTTACTCATTTTTTCTTTTCTTGCGTATGCTTTTGGTGTCATATCCAAGAAATAGTAATCACTGTCAAATCCAGTATCATGAAGCTTTTTGTCCTATAATTTTTCTAAGAGTCTTATAGTTTTAGTTCATTTAGGTCTTTGATCCATTTTGAGTTAATTTTTGTATTTATTGTAAGGTAAGATCCAACTTCTTTTGGACATGGATATCTAGTTTTCCCAACACCATGTTTTAAAGGTTTTTACTTTTTTTGAGACAGGGTGTCGTTCTGTTGCAGTGGCATGCTCATGGCTCACTGCAGGCTCAACCTTCTGGGTTCAAGCCCAA
|
CTTAATTTCTTTGAGCTTATGTCCAGCCTACATGTATAAAATATACAGTGTAGAAAACACTCCAGCTCATCTTATATTTCATTGAAAGCAATGTCTTAATGATAAAGTACTTCACAATATTATCTTTTAGCCTACATAAAACCTATCAGGGTTTAACTAAAGTGGAAGAGCAAATAGATGACTGTTCCTTCTATAAAGAGACCTAAGAAATAAATTAATTACATTTGTTTTTCTACAGTGGTTCTGAATCAACGCCCCTAACAATTCAGGATCTAACACTGAACTCAATCCATGCTTGAACAAAATAAAAGTCAGGCTTGTAAAAAAAAACAAGGTGAATGAAGTAAAGAACTGGCTACAAATATGAAAAGTACTTCCTCTACACTGTTACCCACATGTAAATAAATATAATGGGCTCCCCCCAGCGCCATTCAATGAGTGAACAGCAAGGTATATTCCCCTTGAGTTTAAGAGTTTCCAAACTTACTAGTAGATTCATAGGGACTATGAACATTTTCCAAGTGGCACTGAAGCTGGAAGGGAGTGGAAAACTGGCGGTAACAGTGCTGGCAGATAGTGTGACCATCTACCTCACCGTTCTGCTGATCGAGTTCTACGTGGTGTTTCATATGGTTCATGAATCTGTAATAAAGCACAAAGAGAAAGTACAGAAAACATAAAAAATTGGTAGCCTTTTAGAAATATAATGGTAAAATCACAGAACAAACATTATCTGCTCCCCTCCATTCCCCAGACTTCCTGTTTGGGATATCCTTTTCTGAGCCCAGAAAGATAATGAGTTCTTGAAACTAAGAGAGTTCTGGGAAAGGAGACATACTGCTTTCCCTTACTCGATCCAGTTACCTTTTGTTTATTACCACAATATCTCCTTCTATAGTCCTAGTTATTGATTTAATGATAACCCCAGCAAGACTGCATAGTAGTTAGGTCCATTCTCCAAAGAGAAAGACTTAAAATATATAAGAAAATGTAAGTCTTCTCTTGTTCAAGGTAACTTCCAAGGCTCTTAAACACTTACCGAATATTGTTTTTTAGCCTTTTGGTACAATGTGGGCATCGGAAAGATGTGGCGACCTTAGGGAAATTTGTGAGCTGGGCTACTTTGCCACCATCCCGTCCATAGTAGAAGTCATCTACAAGCATAATGAGTTTGGTCTGGACGGCATCGCCCACGTTCTCATTTGGTTCTGGTACTTTGGTAGGCGGTGACAGAGCAGGAATAGGTGTAGAAGAGGGTGTGGAAGCAACAGGAGCTGTTTTCTCAGGGGATGGGGGCTTTGCTGCTGATGGGACACTGGGTTCTGAATCCAGGGACTTTCCTTTCTTCTGGTATTCAACCATTTCTGGGCAACAGTACTATAAAGAAAGACATCTGATCATTCTGGTTATCCTGGGGGCTAGAATGTGCTAACTCCTTAACTTCACTACCATTCCTTGTTAACGGTTTGGTTTCAGGTATTCTCATTCAGCTTTCACCCTTCAGTTTTTTTTAGCGTTTCCAAGTTTTACTCCTTTTCTAGAGTATATCCACATATGCCACCCAAGCGCTATACTTTGTATTTCTCCCTCCTGCCTGTCTTAGGTCCCTTAATCATTAGTATAACTTGGCTCTGAGCTCCCTGGCAAAGAAGAAGTTCCAACCTTTTTATCTGGACTAATACCAAAAAATGAAAAGCTAAAAAATGGAAGTAAGAGCTCCCGATTCATCCAATGACACAATTAACAAAAATGAACTGAGGCCAATATGGTTTGAGTCCTTATTATCTATAAACCTGTTCTCCTGTGTGGTTTCAAAATCTACCACACTAAGAAAGTAAGATCACATATGTTCTGATCTATTTGAGGGTCTTTAAATGTATCCCATCACATTCCAAAGTACACAGCTCTTCTAAAAACAGACCAAGAGAAACAGTAACCCTTTAAAAAGCTTCAGTCATTTTAGAGCCCCTGCTTACAAGCTTCCAATATTAATGAAGGTAAATGGCAGAAGCCACTTAAGCTGGATCACAGGTGATATCACTTACACACGTGACCTCTCAAAGCTTCAGTAACACGAAATTGAGCATTACATCGTGGACATATTTTCCGTCCACCATCCTGGAGGTCAAATACTGGGATGGAAGAGGTCACTGAAAGAAGTGAGAAGAATTGATAAGATTAATACAATGACACTGGAAAAAGATTACTGACCTTTTGGGAAAAAGTCAAACACTCCCTGAGAAGTATATAAAAGGGTAAGCAAGCATGAGAGATCACTATGGTTTTTGTTTGTTTTTGTTTTTTTTGAGACACGGTCTCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCACAGCTCACTGCAGCCTTGACCTCCCTGGGCTCAAGATCACTATGTTTGAGGCTTCCTTTTACTGTTCTAACTCTAGGCCAGGGGTCAGCAAACCACAGCACACAGATCAAATCCAGCCCAGCTACCAGTTTCTGTTTGGCCCATAAGCTAAGAATAATTTGTATGTGATTTTTTTGTTAAGGTTTTTGTTTTTTTTAATCTTGCAGAACTGAAGCTATATCCAATAAAAACCTCCTCACCATTCTCCCCTCGCCTCCACCCCGGCAACCACAATTCAACTTTGTCTCTATGAATTTGACTACTCTAGGTACCTCAAGTAAGTGGAATCATATGGTACTTGTCCTTTTGTGACTAGCCTATTTCACTTTAACATAATGTCCTCAAGGTTCAACCATGTTGCAGCACATGTTGTAGCAGAATTTCCTTTCTTAAGCCTGAACAATATACCATTGTATGTGAATACCACATTTTATTTATCCCTTTATCAGTTGATGGACCTCTGTGTTGCTTTCACCTTTCAGCTATTGTGAATAATGTTGCAATGAACATAGGTGTACAAATACCTGTTCTAGTCCCTGCTTTCAATTCTTTTGGGTATAGAATGGAATTCCTGGAGCATACAACAATTCTATCATTTTTAACTTTTTGAGGAACCACCATACTGTTTCCAAAGTGGCTGCATAATTTTACATTTCCACCAACAGTGCGTAAGGGTTCTGCTTTCTCCACATCCTCAACAATATTTGTTATTTTATGGTTCTTTGATAGTAGCCATCCTAATGGGAGTGAGACGGTACCTCATTGTGGTTTTGATTTGCATTTCCATAATGATTAATAACACTGAGCACCTTTTCATGAGCTTATTGGCAATAACTTTCTTTGGAGAAAGGTCTATTCAGTCCTTTGCCTACTTTCCTACTTTTTTTTTTTTTTTTGAGATGGGGTCTTTCTCTGTTGCCCAGACTGGAGTGCAGTGGCACAATCTCGACTCACCACAACCTCTGCCTTCCAGGTTCAAGCAATTCTTGTGTCTCAGCCTCCCGAGCAGCTGGGAATACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTATAGACGGGGTTTCACCATTATTGGTCAGGCTGGTCTTGGACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCACCACGACCAGCGAGTCCTTTGTCTATTTTTTAAAAAGGTTGTTTGGGAGTTTTTTTGTTGTTGAACTGCACAAATTCTTTATATATTCTGGATATTAACCCCTTATTAGATACATAATTTGCAAATATTTTCTCCCATTCTGTGGCTTCCCTTTTCACTGTGTTGACAACGTCCTGCACAAAAGTTTTAAATTTTGATATAATTTAATTTACTCATTTTTTCTTTTCTTGCGTATGCTTTTGGTGTCATATCCAAGAAATAGTAATCACTGTCAAATCCAGTATCATGAAGCTTTTTGTCCTATAATTTTTCTAAGAGTCTTATAGTTTTAGTTCATTTAGGTCTTTGATCCATTTTGAGTTAATTTTTGTATTTATTGTAAGGTAAGATCCAACTTCTTTTGGACATGGATATCTAGTTTTCCCAACACCATGTTTTAAAGGTTTTTACTTTTTTTGAGACAGGGTGTCGTTCTGTTGCAGTGGCATGCTCATGGCTCACTGCAGGCTCAACCTTCTGGGTTCAAGCCCAANN
|
pathogenic
| 14,646 |
Evaluate the clinical significance of the mutation at chromosome 1, position 151612258 in gene SNX27: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
ACCTAAACCTCCTAAGTAGCTGGGACTACAGGTATGTGCCATCATGCCCAGCTGCTTTTTTTTTTTTTTTAGATATAGTCTCGCTCAGCCACCAGCTAATTTTTTATTTTTTGTTGAGATGGGGTCTCACTATGTTGCCCAGTTTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCCCACCTCGGTCTCCCAAAGTGCTGGTATTACAGGCATGAGCCACCACACCCAGCCTTTAAAAATTTGGGGGGACTCTTTTGTAATAACAGTTAGCTTAAAACACAAACACATTGTACAGATGTACAAAATATTTTCTTTCTTTATATCTTTATTCCATAAGCTTTTTTTCTATTTAAGGCAATTTTTAATTTTATGTTTTAAACTTTTTTTTTTGGTTAAAAACTAAGACTTAAACACAAACATAGCCTATGCCTACACCAGATCTGGATCATCAATTTCACTGTCTTCCACCTCCATCTCTTGTCTCACTGGAAGGTCTTCATGGGTAATAACATGCACAGAGCTGTCATCTGATGGTAACAATAACTGGGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCATGGTGGCGCATGCGTTTAATCGCAAGGGATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGATATCGTGCCATTGCATTCCAGCCTGGGCGATAAGAGCGAAACTCCATCTTAAAAAAAAAAAAAACAAAAAAACAAAACAAAACAAAAAAACACAATACTTGGAATACGTGGAAAAAAATCACAATACTTAGAATACCTAGAATACCTTCTGAAGGACCTGCCTGAGGCTGCTTTACAGTTAACTTAAAAAAAAAAGTAGAAGGAGTACACTCTAAAATAGTGATAAAAACTACAGTGAATTCATAAACTAGTAACATAGTTCTTACCATTATCAAGTATTATGTACTGTACATAATCATATGTGCTATACTTTCACATGACTGGCAGTGCAGGTTTGTTAACACCAGCATCACTCCAAACATGTGAGTAATGCTTGTGCTATGACCTTATGGTGGCTACTGTGCCACTAGGTGATAGACATTTTTCAGCTCCATTATCATCTTAGGGGGCCTCCCTCGTGTTTGCAGTCCATTGTAGACCAAAATGTCCTTATGTGGCACATGACTGTAGTTGCAATACAGGACAAGAAAGTTGCACAATAACTGGGCCTTAGTTCCTGATACTTAGTAGCTGGATGACTTTGAGCACTCTAAGGTTGTTTCCTAATAACGTAAAATAGGGAAGCTAATCGTGATCCGGTTGCCTCACAGGTTGTTGGGCCCTGGTCAACATATAAGTTACTGTGCCAAAAAATGAGTTGATATAATTTAAGACTGTGTTGAATCACAAACGTTAAGTTATTCTAACATTATTGTTTTTTAGAGGTTATGAAATGAAAGGGGGGGGGGCGAAAAACTTGGTCCGCATCAAGAACTGAATCATTTTACCACGCTGGGTGCTGGGTTATACTCTCCCCACCCAGCAGATCAAACTCCTAACCCAGCATGAAAGATAAACTACAACTCCCGGCAGGCCTTGCTTCCGAACTGCGTCTTATAACCTCGGCTCAGGCCCAGGCCCAGACCGCTCCCCGCCCCCGCCACCCATAAACTACATCTCCCAGGAGGCCCCACGGTGCCCGATTGTCCGCTTTTCGCCCGCCCCCTGCCTCCTCTTCACCCCGCGCCAGCAGCTCGGTGGCCGAGTCGGTCCCGCGGCCGGCGGATCGGGCGCGCGCGTCGGGGGTCGTCCGGCTGCCAGGCAGGGCGAGCACGCGCCGGGAGGCCTTGGAGGCGTAGGGGGCGGGGGTACGGCTCGCCTGCTCGCAAGATGGCGGACGAGGACGGGGAAGGGATTCATCCCTCAGCCCCTCACAGGAACGGAGGTGGCGGCGGCGGCGGGGGGTCTGGGCTCCACTGCGCCGGGAACGGCGGCGGGGGAGGCGGCGGCCCGCGGGTCGTGCGCATCGTCAAGTCCGAGTCCGGCTACGGCTTCAACGTGCGGGGCCAAGTGAGCGAGGGCGGGCAACTGCGGAGCATCAACGGGGAGCTGTACGCGCCGCTGCAGCATGTGAGCGCCGTGCTGCCCGGGGGGGCGGCCGATCGGGCCGGGGTGCGCAAGGGGGACCGCATCCTGGAGGTGTGAGTATCGGGGCTACCCGCCGCCCCATCCTCCCCGCGCCCCTCCTGCCCCTGCACTCCTCGCTACCCTTGTCACCCCCAGGCCGCACCTCCCCCGAGCTCCGAGCCGGCCTCCGGACCCCCGCCCCTCAGGCCTCCGCAGCCGGGCCCCTCCTTGTGGGCTGCCCTCCCACCACCCGCCCCGGGGCTTCTGCGACGCCGGTCTCCCACCCCGTCGTCTCCAGCTGATGCCCTTGCGCCCCCAGTGCTCCTCCCTGTGCCCCGATTACTCTGGGCTCTTCTCCGCCCCTTTGCCTTCCCGTTTGGCGTGCTGCATTCTGCTCCTCACTCCCCCTCGTCTTGCTCAGAAGGAACCTCATCTGCTCCTTACTGACGGCGTTTCGTTTTCTGATCCAGCCAGTACCGTGTCCCCCCCAAGTTCTCATCTTCAGCATCGCAGTTTCGTTCTCCACCACTCCCCTCCGCCCCCGTGGACTGCCCCTTCTGCCCTCCAGACCAAGTAGGCAGGACCTCTGGTCTGCTCCTACTTTTCCTCCGGAAACACCATCCCTCCCCGCTCGTCTCCTTTTTCTTTCCTTAGTTACCCTCTCCTCATGGTTACGCTGCCCCTAAATTTTTCCATCCCACCGTGTGCCCCTTTCCTCCCCTCCTTTTTGTATTTCTACTCCAAGAGTTTACCTTGCTTTCTGACCCTTGCATGCCTTTGGGGTGGGGGGCGTGGGATTTGACACCGTAGTTTCTCTTCTCGGTTGGCCCCGTATCACACCCTAATTTGGAATCTAGCGTCTCCATCAGCACACCCCTCTGAGAGCATCCCTTCCCTGGCCTCCTGCCTTCACTCCTGCTCTATACTCATGCCTCCTCCTAGTCAGGTTTATGGTAGACCCCTTGTAACTCCTCCTCCTTCAAAACTACTTCAAGCCCTTTTTGGGTCTTTGACCGCTTTGCTTTTTTAGGGCATGCCCGTCTCTGCTGCCTCTTCTACTCTATCCTCCTGTGATCCCACACTTGACTTTGTCCTAGTCTTTCCCTCCCCTAGGCTGCTTTTCCTTTCTTCTGTTTTTTAAGGCGCCTTCTGCTGCTGCAGCCCACCCTCTCTCCCCTGCTGCAGTCCCTCCCCCTTCATACGCCTCCCCCACCACATCCCTCCATGCTCTTGCGGGATGCTGCCTTGTCTTGCAATCTCTGTGCACACCGCCTCCATTACCCTAATCTAGGTGTTACATTTGCCTTTTTGTACTTCGTATTGAAATTCGGATAGTGATTGCCGGTTGACTTGCAGGTGGTGTGTGCTCGCGTTGTCTCCGTTCTCCTCAGCAGTCTTCAGTGCTGTGTTTCTGCTTACTGAATCTATGTTGTGCATTCCTTTTTTACACTTTTACTCTCTCCCTCCATATTTCGATTTGCCCACTTGAAATCGTTCTCATTTTTTATAAATTTTAATTGTAATTTCCGCAACCTTCTGTTGCCTCTTGTAAAACAGTAGGTTTGCAAAAGGGATAGTTTTTTGAAAATCTGCCTTATAGAGAAATCCATTCCTTCTTACTCATCTCGTGCCATCTACCCTTATCCTTGACATTCTTAACTCCATGGTGTCCACTCATTCTGTTTCCTCACCTCTTCCACCTCAAGAAATGGTTGGTTTTAACCTGGGAGAGTTGATTGAAAAAAAAAAAAAGAAATAGTTGCTCACCTAGGCCAGTGTTTGGAGACAGTATACCTTTCCTCTGTCCTTTCTGTAAATAGATGCTTTCTTGTTTCATTAATGTCCTACATACTGTTTCCTAGTATTC
|
ACCTAAACCTCCTAAGTAGCTGGGACTACAGGTATGTGCCATCATGCCCAGCTGCTTTTTTTTTTTTTTTAGATATAGTCTCGCTCAGCCACCAGCTAATTTTTTATTTTTTGTTGAGATGGGGTCTCACTATGTTGCCCAGTTTGGTCTTGAACTCCTGGGCTCAAGGAATCCTCCCACCTCGGTCTCCCAAAGTGCTGGTATTACAGGCATGAGCCACCACACCCAGCCTTTAAAAATTTGGGGGGACTCTTTTGTAATAACAGTTAGCTTAAAACACAAACACATTGTACAGATGTACAAAATATTTTCTTTCTTTATATCTTTATTCCATAAGCTTTTTTTCTATTTAAGGCAATTTTTAATTTTATGTTTTAAACTTTTTTTTTTGGTTAAAAACTAAGACTTAAACACAAACATAGCCTATGCCTACACCAGATCTGGATCATCAATTTCACTGTCTTCCACCTCCATCTCTTGTCTCACTGGAAGGTCTTCATGGGTAATAACATGCACAGAGCTGTCATCTGATGGTAACAATAACTGGGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACCAAAAAATTAGCCAGGCATGGTGGCGCATGCGTTTAATCGCAAGGGATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCGGTGAGCCGATATCGTGCCATTGCATTCCAGCCTGGGCGATAAGAGCGAAACTCCATCTTAAAAAAAAAAAAAACAAAAAAACAAAACAAAACAAAAAAACACAATACTTGGAATACGTGGAAAAAAATCACAATACTTAGAATACCTAGAATACCTTCTGAAGGACCTGCCTGAGGCTGCTTTACAGTTAACTTAAAAAAAAAAGTAGAAGGAGTACACTCTAAAATAGTGATAAAAACTACAGTGAATTCATAAACTAGTAACATAGTTCTTACCATTATCAAGTATTATGTACTGTACATAATCATATGTGCTATACTTTCACATGACTGGCAGTGCAGGTTTGTTAACACCAGCATCACTCCAAACATGTGAGTAATGCTTGTGCTATGACCTTATGGTGGCTACTGTGCCACTAGGTGATAGACATTTTTCAGCTCCATTATCATCTTAGGGGGCCTCCCTCGTGTTTGCAGTCCATTGTAGACCAAAATGTCCTTATGTGGCACATGACTGTAGTTGCAATACAGGACAAGAAAGTTGCACAATAACTGGGCCTTAGTTCCTGATACTTAGTAGCTGGATGACTTTGAGCACTCTAAGGTTGTTTCCTAATAACGTAAAATAGGGAAGCTAATCGTGATCCGGTTGCCTCACAGGTTGTTGGGCCCTGGTCAACATATAAGTTACTGTGCCAAAAAATGAGTTGATATAATTTAAGACTGTGTTGAATCACAAACGTTAAGTTATTCTAACATTATTGTTTTTTAGAGGTTATGAAATGAAAGGGGGGGGGGCGAAAAACTTGGTCCGCATCAAGAACTGAATCATTTTACCACGCTGGGTGCTGGGTTATACTCTCCCCACCCAGCAGATCAAACTCCTAACCCAGCATGAAAGATAAACTACAACTCCCGGCAGGCCTTGCTTCCGAACTGCGTCTTATAACCTCGGCTCAGGCCCAGGCCCAGACCGCTCCCCGCCCCCGCCACCCATAAACTACATCTCCCAGGAGGCCCCACGGTGCCCGATTGTCCGCTTTTCGCCCGCCCCCTGCCTCCTCTTCACCCCGCGCCAGCAGCTCGGTGGCCGAGTCGGTCCCGCGGCCGGCGGATCGGGCGCGCGCGTCGGGGGTCGTCCGGCTGCCAGGCAGGGCGAGCACGCGCCGGGAGGCCTTGGAGGCGTAGGGGGCGGGGGTACGGCTCGCCTGCTCGCAAGATGGCGGACGAGGACGGGGAAGGGATTCATCCCTCAGCCCCTCACAGGAACGGAGGTGGCGGCGGCGGCGGCGGGGGGTCTGGGCTCCACTGCGCCGGGAACGGCGGCGGGGGAGGCGGCGGCCCGCGGGTCGTGCGCATCGTCAAGTCCGAGTCCGGCTACGGCTTCAACGTGCGGGGCCAAGTGAGCGAGGGCGGGCAACTGCGGAGCATCAACGGGGAGCTGTACGCGCCGCTGCAGCATGTGAGCGCCGTGCTGCCCGGGGGGGCGGCCGATCGGGCCGGGGTGCGCAAGGGGGACCGCATCCTGGAGGTGTGAGTATCGGGGCTACCCGCCGCCCCATCCTCCCCGCGCCCCTCCTGCCCCTGCACTCCTCGCTACCCTTGTCACCCCCAGGCCGCACCTCCCCCGAGCTCCGAGCCGGCCTCCGGACCCCCGCCCCTCAGGCCTCCGCAGCCGGGCCCCTCCTTGTGGGCTGCCCTCCCACCACCCGCCCCGGGGCTTCTGCGACGCCGGTCTCCCACCCCGTCGTCTCCAGCTGATGCCCTTGCGCCCCCAGTGCTCCTCCCTGTGCCCCGATTACTCTGGGCTCTTCTCCGCCCCTTTGCCTTCCCGTTTGGCGTGCTGCATTCTGCTCCTCACTCCCCCTCGTCTTGCTCAGAAGGAACCTCATCTGCTCCTTACTGACGGCGTTTCGTTTTCTGATCCAGCCAGTACCGTGTCCCCCCCAAGTTCTCATCTTCAGCATCGCAGTTTCGTTCTCCACCACTCCCCTCCGCCCCCGTGGACTGCCCCTTCTGCCCTCCAGACCAAGTAGGCAGGACCTCTGGTCTGCTCCTACTTTTCCTCCGGAAACACCATCCCTCCCCGCTCGTCTCCTTTTTCTTTCCTTAGTTACCCTCTCCTCATGGTTACGCTGCCCCTAAATTTTTCCATCCCACCGTGTGCCCCTTTCCTCCCCTCCTTTTTGTATTTCTACTCCAAGAGTTTACCTTGCTTTCTGACCCTTGCATGCCTTTGGGGTGGGGGGCGTGGGATTTGACACCGTAGTTTCTCTTCTCGGTTGGCCCCGTATCACACCCTAATTTGGAATCTAGCGTCTCCATCAGCACACCCCTCTGAGAGCATCCCTTCCCTGGCCTCCTGCCTTCACTCCTGCTCTATACTCATGCCTCCTCCTAGTCAGGTTTATGGTAGACCCCTTGTAACTCCTCCTCCTTCAAAACTACTTCAAGCCCTTTTTGGGTCTTTGACCGCTTTGCTTTTTTAGGGCATGCCCGTCTCTGCTGCCTCTTCTACTCTATCCTCCTGTGATCCCACACTTGACTTTGTCCTAGTCTTTCCCTCCCCTAGGCTGCTTTTCCTTTCTTCTGTTTTTTAAGGCGCCTTCTGCTGCTGCAGCCCACCCTCTCTCCCCTGCTGCAGTCCCTCCCCCTTCATACGCCTCCCCCACCACATCCCTCCATGCTCTTGCGGGATGCTGCCTTGTCTTGCAATCTCTGTGCACACCGCCTCCATTACCCTAATCTAGGTGTTACATTTGCCTTTTTGTACTTCGTATTGAAATTCGGATAGTGATTGCCGGTTGACTTGCAGGTGGTGTGTGCTCGCGTTGTCTCCGTTCTCCTCAGCAGTCTTCAGTGCTGTGTTTCTGCTTACTGAATCTATGTTGTGCATTCCTTTTTTACACTTTTACTCTCTCCCTCCATATTTCGATTTGCCCACTTGAAATCGTTCTCATTTTTTATAAATTTTAATTGTAATTTCCGCAACCTTCTGTTGCCTCTTGTAAAACAGTAGGTTTGCAAAAGGGATAGTTTTTTGAAAATCTGCCTTATAGAGAAATCCATTCCTTCTTACTCATCTCGTGCCATCTACCCTTATCCTTGACATTCTTAACTCCATGGTGTCCACTCATTCTGTTTCCTCACCTCTTCCACCTCAAGAAATGGTTGGTTTTAACCTGGGAGAGTTGATTGAAAAAAAAAAAAAGAAATAGTTGCTCACCTAGGCCAGTGTTTGGAGACAGTATACCTTTCCTCTGTCCTTTCTGTAAATAGATGCTTTCTTGTTTCATTAATGTCCTACATACTGTTTCCTAGTA
|
benign
| 14,682 |
Does the chromosome 1 mutation at position 152111699 within gene TCHH (trichohyalin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
TCCTGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCGCGGTATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCACCTCCTCTTCCTCCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGACATTGCCTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTTCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCGTCTCCCGTTCCTCTCCCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGATATTGCCTCTCCCGCTCCTGGAGTCTTCTTTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCTTCCTGCTGCAGCTCGTCTTTTTTGCGGTACTGCCTCTCCCACTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAACTCCTCTTCCTCGCGGTATTTTTTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCCCAGCAGCTGCTCTTCCTTCTGCTGCAGCTTCTTATCCTTCCGATATTGCCTTTCCCGCTCCTGGCGTCTTCTTTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTGCTCTTCCTCGCGGTATTGTCTCTCCTGTTCTTGGCGCCTTCTCTTCTCGCGCTCCTCTCTCTGTAGCTCCTCCTCCTCCTCCTGCAGCAGCTGCTGTTCCTTCCTCAGCTGCTCTTGTAGGGCTGGCTTGGCGTACAGCGTGTGGCGGCGTCTCTTCCTTTCTTCTTCTAGTTGCCACCTCCATTTTTGGTCGCGGCGCTGCTCCTGGCTTCGCCTCCTCTCCTGATCCTCCTGGAGGCCGTCCTCCTCCTCCTGGAGCTGTTGGGCACGCTCCCGCCGCTGGAGCTGCTCCTCTTCCTCCAGGAACTGCAGCTCTTTCTCCCTCTCGCGTCGCTGGCGGCGCCGCTGCTCCTTCTCCTCCTCCTCCGGGAGAAACCGTTGTTCCCGCTGCTGGCGCTCCTCGGCCCTCAGCTGCCTCTCCCGCTGCTCCCGCAATGGGGGCCTGGCCGACAGCCTCTGACGGCCCCTCTCGCTCTTTTCCTCCGCCTGCCACTGCCATGTGAAGTCCCGGCGCTGCTCCTCTTCCTGCTGCTGCCGGTGAGCCCGTTCCTCCTCCTGCCATTGCAGCTCACTCTCCCGGCGCCGCCTCTTTTCCTCCTGCTCTTGGCGGCGCCTCTGCCCTTCCTGCTTGCGGGGCCTCGAGTAGACTTTGCTTTGCCGTGCGTCGGCCTCGCTTTCTAGCTGCCACTGCCACTTCGGGATGCGGCTCTTAATCCGCTCCCGGGCCTGTTCCTGCTCCTCCTCAGCTAGCTCCTGCTCGCGCCTCTCTTCCTCATGCTCGCGCTTCAGCCGCTGCTCGAGCCTCTCTTCCTCCTCCTCGCGCTTCAGCCGCTGCTCGCGCCTTTCCTGCTGCTCGCGCCTTAGTTGCTGCTGGCGCCTCTCCTCCTGCTCCTCGCTCTTCAGCAGCTGCTGGCGCCTCTCTTCCTCCGGCTCCTCGCGCTTCAGCCGCTGCTCGCGCCTCTCCTCCTGCTCGAGTCTCTCCACCTCCTCGCGCTTCAGTCGCTGCTCGAGCCTCTCTTCCTGCTCGCGCTTCAGCCGCTGCTGGCGCCTCTCCTCCTCGCGCTTCAGCAGCTGATCGCGCCTCTCCTCCTGCTCGCGCTTCAGCCGCTGCTCTCGCCTCTCCTGCTCGAGCCTCTTCTCCTCCTCGCGCTTCAGCAGCTGCTCGCGCCTCTCCTCCTGCTCGCGTCTTAGTTGTTGCTCGCTCCTCAACCGCTGCTGGAGCCTCTCTTCCTCCTCCTGGCGCTTCAGCCGCTGCTCGCGCCTCTCCTCTTGCTCCCGCCTTAGTTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTCCTCGAGCTTCAGCCAACGTTCGCGCCTCTCCTCCTCCTGGTCGCGCTTCAGCTGCTGCTTGCGCCTCTCCTGCTCGTGCCTCTCCGTCTCCTCCTCGCGCTTCAGCCAATCGCGCCTCTCCTCCTGCTCGCGCTTCAGCCGCTGCTCGCGCCTCTCCTGCTCGTGCTTCTGCTCGTGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGCTCCCTCCTCAGCTCTTGCCGCTCCAGCTTCCGTAGCTGCTCTTCTTCCTCCTGGAGCTCTCTTTGCCGCTGCGGCTCCTCTTCCTGCAACTTCTCTTCTTCCTTCCGGAGCACTGTCTCGCGCTTCCTCCACTCTTTCTCTTCTTCCTCCTGGAACACTCTGTCTTGCCGCTCTCGCCTTTGCTGCTGTTTCTCCTCGCGGCCCTTCCTCCTCAGCTCCAGCAGCTCCCGCCTTCGCAGTTGCTCTTCGTCTGGAAACTCCTCAGTTTCGTGACCTTTGCAACTCTGCAGCTGCTCTTCCTCTGCACGGCGCTCTTCCCGTTCTTGCCATTCTTGCCTTTGCCGCCACAGCTCCTCGTCGCGGCGCTGCCTGTCGCGCTGTTCAAGTCGCTCTTGTTTCTCACTTTGCTCCTCTCCCTCAGCTAGCTCCCTCTCCTGTTCCTGCCTCTTCTGCCTGCGTCGTTGCCCAGGTTCTTCTTCCAGTTGTCTGTCCCGGGGCTCGAATCTCCTTTGGTCTTCTTCTTGCCTGCGATCTTGTAACAGGCTCTCCTTTCCGTCACACCGGGCTCGCTTCTCCTCATCCAGTCCCGTGGCCTGGCCGAGAGCATAGTAACAAGCTTGAGCCACTTTGAAAATAAATAGGAGGAATTCGTTGAAATCGACACGCCCATTACTGTCAAGATCCAGAAGTTCCAGGATCAGATCTACCGTCTTAGGGTCATGTGGTCTCTATAAAAATGGTGAAAACAAAAATTTTACAATGCACTATTTACAGGTGGTAAAATTATATTCACACATGATATATTTTATGCTATGCTGACATTCAAGAGACATTCAGAGCAATTAGAAAAATGTCCAGTGTGTATCAAGTTTTGTCCCCATGTAAAATGTGAACCCTCACTTTAAAGCATATATTCGTTTGAAATTTTTACATCTCGTAATTTAGTGCTGATCAAACCTAAGGAAGCAGGAAGAGAGACACAAAGTAGAATAGCAGGTAAGCCTACGCACCTTAGAGGCAGAGCCTGAGGTGAAGATTCAAAACAGCATCGTGAACTTGTGTGTAAAATTAACAAAGCTACTCAACATCAAGAAAGAATAACACAAGTTCGCTTTAATTGAGAAAGAATGAACTCATCCTTGAGAGAGATACAATAGAAATTTATGAGGATTTGCAGTAGCCATTTCTGTCTGAAGCAGCCAGTATTCTTGATTTGGTTTCTATTCCATATTAGAAAACAGAACAAAACATTTACGGGTAGCACCATTTTAATAGAGATCAGGCTGATCTCAGTTTTGAAATTTGGAAACAAATTTAAGTTCCTCCAAGTCTAGTGTGATTTGACATCTTTTGTGGTAATGTCCCATGAAGAGCTCATTCACATGGCCATGCCATC
|
TCCTGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCGCGGTATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCACCTCCTCTTCCTCCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGACATTGCCTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTTCCGATATTGCCTCTCCAGCTCCTGGCGCCTTCTCGTCTCCCGTTCCTCTCCCAGCAGCTGCTCTTCCTCCTGCTGCAGCTCCTCTTCCTCCCGATATTGCCTCTCCCGCTCCTGGAGTCTTCTTTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCTTCCTGCTGCAGCTCGTCTTTTTTGCGGTACTGCCTCTCCCACTCCTGGCGCCTTCTCTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAACTCCTCTTCCTCGCGGTATTTTTTCTCCCGCTCCTGGCGCCTTCTCTTCTCCGGTTCCTCTCCCAGCAGCTGCTCTTCCTTCTGCTGCAGCTTCTTATCCTTCCGATATTGCCTTTCCCGCTCCTGGCGTCTTCTTTTCTCCCGTTCCTCTCTCAGCAGCTGCTCTTCCTCCTGCTGCAGCTGCTCTTCCTCGCGGTATTGTCTCTCCTGTTCTTGGCGCCTTCTCTTCTCGCGCTCCTCTCTCTGTAGCTCCTCCTCCTCCTCCTGCAGCAGCTGCTGTTCCTTCCTCAGCTGCTCTTGTAGGGCTGGCTTGGCGTACAGCGTGTGGCGGCGTCTCTTCCTTTCTTCTTCTAGTTGCCACCTCCATTTTTGGTCGCGGCGCTGCTCCTGGCTTCGCCTCCTCTCCTGATCCTCCTGGAGGCCGTCCTCCTCCTCCTGGAGCTGTTGGGCACGCTCCCGCCGCTGGAGCTGCTCCTCTTCCTCCAGGAACTGCAGCTCTTTCTCCCTCTCGCGTCGCTGGCGGCGCCGCTGCTCCTTCTCCTCCTCCTCCGGGAGAAACCGTTGTTCCCGCTGCTGGCGCTCCTCGGCCCTCAGCTGCCTCTCCCGCTGCTCCCGCAATGGGGGCCTGGCCGACAGCCTCTGACGGCCCCTCTCGCTCTTTTCCTCCGCCTGCCACTGCCATGTGAAGTCCCGGCGCTGCTCCTCTTCCTGCTGCTGCCGGTGAGCCCGTTCCTCCTCCTGCCATTGCAGCTCACTCTCCCGGCGCCGCCTCTTTTCCTCCTGCTCTTGGCGGCGCCTCTGCCCTTCCTGCTTGCGGGGCCTCGAGTAGACTTTGCTTTGCCGTGCGTCGGCCTCGCTTTCTAGCTGCCACTGCCACTTCGGGATGCGGCTCTTAATCCGCTCCCGGGCCTGTTCCTGCTCCTCCTCAGCTAGCTCCTGCTCGCGCCTCTCTTCCTCATGCTCGCGCTTCAGCCGCTGCTCGAGCCTCTCTTCCTCCTCCTCGCGCTTCAGCCGCTGCTCGCGCCTTTCCTGCTGCTCGCGCCTTAGTTGCTGCTGGCGCCTCTCCTCCTGCTCCTCGCTCTTCAGCAGCTGCTGGCGCCTCTCTTCCTCCGGCTCCTCGCGCTTCAGCCGCTGCTCGCGCCTCTCCTCCTGCTCGAGTCTCTCCACCTCCTCGCGCTTCAGTCGCTGCTCGAGCCTCTCTTCCTGCTCGCGCTTCAGCCGCTGCTGGCGCCTCTCCTCCTCGCGCTTCAGCAGCTGATCGCGCCTCTCCTCCTGCTCGCGCTTCAGCCGCTGCTCTCGCCTCTCCTGCTCGAGCCTCTTCTCCTCCTCGCGCTTCAGCAGCTGCTCGCGCCTCTCCTCCTGCTCGCGTCTTAGTTGTTGCTCGCTCCTCAACCGCTGCTGGAGCCTCTCTTCCTCCTCCTGGCGCTTCAGCCGCTGCTCGCGCCTCTCCTCTTGCTCCCGCCTTAGTTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTCCTCGAGCTTCAGCCAACGTTCGCGCCTCTCCTCCTCCTGGTCGCGCTTCAGCTGCTGCTTGCGCCTCTCCTGCTCGTGCCTCTCCGTCTCCTCCTCGCGCTTCAGCCAATCGCGCCTCTCCTCCTGCTCGCGCTTCAGCCGCTGCTCGCGCCTCTCCTGCTCGTGCTTCTGCTCGTGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGCTCCCTCCTCAGCTCTTGCCGCTCCAGCTTCCGTAGCTGCTCTTCTTCCTCCTGGAGCTCTCTTTGCCGCTGCGGCTCCTCTTCCTGCAACTTCTCTTCTTCCTTCCGGAGCACTGTCTCGCGCTTCCTCCACTCTTTCTCTTCTTCCTCCTGGAACACTCTGTCTTGCCGCTCTCGCCTTTGCTGCTGTTTCTCCTCGCGGCCCTTCCTCCTCAGCTCCAGCAGCTCCCGCCTTCGCAGTTGCTCTTCGTCTGGAAACTCCTCAGTTTCGTGACCTTTGCAACTCTGCAGCTGCTCTTCCTCTGCACGGCGCTCTTCCCGTTCTTGCCATTCTTGCCTTTGCCGCCACAGCTCCTCGTCGCGGCGCTGCCTGTCGCGCTGTTCAAGTCGCTCTTGTTTCTCACTTTGCTCCTCTCCCTCAGCTAGCTCCCTCTCCTGTTCCTGCCTCTTCTGCCTGCGTCGTTGCCCAGGTTCTTCTTCCAGTTGTCTGTCCCGGGGCTCGAATCTCCTTTGGTCTTCTTCTTGCCTGCGATCTTGTAACAGGCTCTCCTTTCCGTCACACCGGGCTCGCTTCTCCTCATCCAGTCCCGTGGCCTGGCCGAGAGCATAGTAACAAGCTTGAGCCACTTTGAAAATAAATAGGAGGAATTCGTTGAAATCGACACGCCCATTACTGTCAAGATCCAGAAGTTCCAGGATCAGATCTACCGTCTTAGGGTCATGTGGTCTCTATAAAAATGGTGAAAACAAAAATTTTACAATGCACTATTTACAGGTGGTAAAATTATATTCACACATGATATATTTTATGCTATGCTGACATTCAAGAGACATTCAGAGCAATTAGAAAAATGTCCAGTGTGTATCAAGTTTTGTCCCCATGTAAAATGTGAACCCTCACTTTAAAGCATATATTCGTTTGAAATTTTTACATCTCGTAATTTAGTGCTGATCAAACCTAAGGAAGCAGGAAGAGAGACACAAAGTAGAATAGCAGGTAAGCCTACGCACCTTAGAGGCAGAGCCTGAGGTGAAGATTCAAAACAGCATCGTGAACTTGTGTGTAAAATTAACAAAGCTACTCAACATCAAGAAAGAATAACACAAGTTCGCTTTAATTGAGAAAGAATGAACTCATCCTTGAGAGAGATACAATAGAAATTTATGAGGATTTGCAGTAGCCATTTCTGTCTGAAGCAGCCAGTATTCTTGATTTGGTTTCTATTCCATATTAGAAAACAGAACAAAACATTTACGGGTAGCACCATTTTAATAGAGATCAGGCTGATCTCAGTTTTGAAATTTGGAAACAAATTTAAGTTCCTCCAAGTCTAGTGTGATTTGACATCTTTTGTGGTAATGTCCCATGAAGAGCTCAT
|
benign
| 14,707 |
Variant in TCHH (trichohyalin), chromosome 1, position 152114079—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
benign
|
TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGCTCCCTCCTCAGCTCTTGCCGCTCCAGCTTCCGTAGCTGCTCTTCTTCCTCCTGGAGCTCTCTTTGCCGCTGCGGCTCCTCTTCCTGCAACTTCTCTTCTTCCTTCCGGAGCACTGTCTCGCGCTTCCTCCACTCTTTCTCTTCTTCCTCCTGGAACACTCTGTCTTGCCGCTCTCGCCTTTGCTGCTGTTTCTCCTCGCGGCCCTTCCTCCTCAGCTCCAGCAGCTCCCGCCTTCGCAGTTGCTCTTCGTCTGGAAACTCCTCAGTTTCGTGACCTTTGCAACTCTGCAGCTGCTCTTCCTCTGCACGGCGCTCTTCCCGTTCTTGCCATTCTTGCCTTTGCCGCCACAGCTCCTCGTCGCGGCGCTGCCTGTCGCGCTGTTCAAGTCGCTCTTGTTTCTCACTTTGCTCCTCTCCCTCAGCTAGCTCCCTCTCCTGTTCCTGCCTCTTCTGCCTGCGTCGTTGCCCAGGTTCTTCTTCCAGTTGTCTGTCCCGGGGCTCGAATCTCCTTTGGTCTTCTTCTTGCCTGCGATCTTGTAACAGGCTCTCCTTTCCGTCACACCGGGCTCGCTTCTCCTCATCCAGTCCCGTGGCCTGGCCGAGAGCATAGTAACAAGCTTGAGCCACTTTGAAAATAAATAGGAGGAATTCGTTGAAATCGACACGCCCATTACTGTCAAGATCCAGAAGTTCCAGGATCAGATCTACCGTCTTAGGGTCATGTGGTCTCTATAAAAATGGTGAAAACAAAAATTTTACAATGCACTATTTACAGGTGGTAAAATTATATTCACACATGATATATTTTATGCTATGCTGACATTCAAGAGACATTCAGAGCAATTAGAAAAATGTCCAGTGTGTATCAAGTTTTGTCCCCATGTAAAATGTGAACCCTCACTTTAAAGCATATATTCGTTTGAAATTTTTACATCTCGTAATTTAGTGCTGATCAAACCTAAGGAAGCAGGAAGAGAGACACAAAGTAGAATAGCAGGTAAGCCTACGCACCTTAGAGGCAGAGCCTGAGGTGAAGATTCAAAACAGCATCGTGAACTTGTGTGTAAAATTAACAAAGCTACTCAACATCAAGAAAGAATAACACAAGTTCGCTTTAATTGAGAAAGAATGAACTCATCCTTGAGAGAGATACAATAGAAATTTATGAGGATTTGCAGTAGCCATTTCTGTCTGAAGCAGCCAGTATTCTTGATTTGGTTTCTATTCCATATTAGAAAACAGAACAAAACATTTACGGGTAGCACCATTTTAATAGAGATCAGGCTGATCTCAGTTTTGAAATTTGGAAACAAATTTAAGTTCCTCCAAGTCTAGTGTGATTTGACATCTTTTGTGGTAATGTCCCATGAAGAGCTCATTCACATGGCCATGCCATCAAGTACATGAAATACTTTATTATTCAGACTACAATGTCAAGTAAGTACCTTTTGACTCAGAAATGAATGGGGGATGTAGTGTAGACCTGTTGTGGTGTAAAATGAATATAAAACCACCATTCCTTGCTCTGGTCTCCTCTGAGAATAAATCTCATAGCCTCAAGTCAATAGATCTCATTTTCTTGTTAGTTCTTACCCGAAGCACAGCTCCAAATTCCCTTTCAAGGAGGTTCTTCAGGTCTTTCTTAGTTAATGCTGCTCCATCACAATCATGAGAGACATACTGATTGAAAATTTCAGTGATGTCACAGATGCTTCTCAGAAGTGGAGACATTTTTTTTTCTTTCCTTCAAGTTCAAGTAAACCTAGAACAATAAAATAAGATCCAGAATCAAAATCCCGTTTCTGCTTTTGGGAAGGCTTCATTCACACTATTTCAGGCAGATCCCTAAATAATTTGAATTTATAGCGGTAATTTCAACCTGGACTTTCAGAGCACTTTAATATTTGAATATTGTATCAGAAAGAGAAAGAGCGATCCTGAGAAATTCCAAGCCAGGGAATCATCTTCAGACTATCCTGTTGTCAGCTTTTGATTGTCCACCCAATGTGGATTATCTATGCCCTTTTCTTCTGTCTTTCTTCCAGCTCTCCACCGTATTTCAGAGTAGAAAATTAAGAGAAGAGTGCAGAAATTAAAATTTTATATATGTCTACACACCTTCCTTTAAAGTTGAGCGAAGAGGACAGGTAAAAGCCAAAAGGTGAAGGAAGACTTGAGAGTATCTTAAAGTGGATAGAGGCCATGTCAGCAAAACAGTTGGTAGAAAATAGAACAATGAAAAGGGAATATGAATGATTCCTCAACATTACAGTCCATAAAGGATTTAGGAACTCTTATAGAATATAATTTGTAAGTCAGCAATTCTAAGATTAAATAGTACTTCTTCCTAGTCAAAAGATGGCATTGTAACATTCAGATACACAAATGCAGAAAACAGAGACTGTATATTACCTGCCTCAACTCAGATATAGTAAGATATTCGGATATTGAAGTATTGAAAGCTTCTGAGAGGTCCTTTCTAAACCAAACGGAATCCAGAAAACTGTGAATGATATTGGTTTTGTTAAACCCAAATGCATCATTGGAATCTTGGCTTTTTATAAAACATTAGCCAGCAGTAGATCAATGTTATAAGAATACATGGAATGGCTTTGCTGGTGGGATAAGTGTAGTCGTTCATCTAGCTGACTTCTTTATGTACTTCTCAACTCCAGTACCTTAAATGCTGTGACTGTATGAAGATGGCCCATATTAGGTAGAACCAATGTAAAAGAGAACAGAAGGCTGGCAAACTTTTGAGATAGCAGTTTTTAGGAAGATGAACCCTATCAGAGCCACACATGATCATCCTTGATGTGCAGAAGTATAGAGTTCAGAGCCCAAGGAGAAGGGTCATGCTTCAGTTCAAGTGATGGCTCCAACCATAAGAAGATGGGATAGAGTTAGTGATAGTTTATTTATCCCTGCAAAATACTGATACCTTCTGGCACATGGAACCTCCCCCCATATCCCAACATCTGAAATAGCTATAAAAATGGAGAATCATAAAGAAGACCACGATCCCACAGAATGGGACTTACCCACTTCACCAGAGGAAGAAGTCGACAGTGCTTGCTGACACCACAGGCAAGTGTACTGGGTAACTGGGAGCTGGGCCTTTTATAGGGGTTTTAATTGTGCCCTGGAAAGCAACTTGGGAAGGAGACACCCACTCTGTGGGATGGCCTGATTCATTCCTAACCAAGCCCAGCTCCACCTCTGTCTCCACAAATGGCTTGTTTATCTCACTATTTGCTCACGTAGCTATTTGGCACGAGGTTCACAGACCTTGCCTCCTGACAGTCAGGGTACCAGCCCCACCTAACATGGGAGGGTAGAATATTTGGCAGAATCTCCAATTTTCTTAAATTGTTAAAAGTAAATTAAATAATAAAACAAAGGTATTAAATGTTCACAATCTTAATTGATTATTACTTCATTACAAAGGAGTAAACTCTAAGCCATTTGCTTTATAAAAGATACAATCTCTAGTTTGGGATTAAGCAGAAACTTTGAAATAAAGTGATGAAAACCAATTAATTTCTCCATGGGATGTGACAGTCCATGGTGAGCTGCTCATAAGCCCTGCCAGAAGCAGTTGCTTCAATTCTAGGGCAATGAGAGAGCTGTAAAGAATTGGTTAGTTTCTTCTCTAAAAATGCAGGTGGGAAAAATTTTTACATTTGTCTCCCGGGTCTTATGATGGTTTTCCTACAGATTGGGGACTGCCTCCTCAGTAAAGTTTGGAAGGGTACCTTGGAAATATATTTTTATTAA
|
TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTCGCGCCTCAGCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTCCTCCTCCTGCTTGCGCCTTAGTTGCTGCTCGCGCCTCAGCCTTTGCTGCTGCTGCTCTTCCTCCTGGCGCTCCCTCCTCAGCTCTTGCCGCTCCAGCTTCCGTAGCTGCTCTTCTTCCTCCTGGAGCTCTCTTTGCCGCTGCGGCTCCTCTTCCTGCAACTTCTCTTCTTCCTTCCGGAGCACTGTCTCGCGCTTCCTCCACTCTTTCTCTTCTTCCTCCTGGAACACTCTGTCTTGCCGCTCTCGCCTTTGCTGCTGTTTCTCCTCGCGGCCCTTCCTCCTCAGCTCCAGCAGCTCCCGCCTTCGCAGTTGCTCTTCGTCTGGAAACTCCTCAGTTTCGTGACCTTTGCAACTCTGCAGCTGCTCTTCCTCTGCACGGCGCTCTTCCCGTTCTTGCCATTCTTGCCTTTGCCGCCACAGCTCCTCGTCGCGGCGCTGCCTGTCGCGCTGTTCAAGTCGCTCTTGTTTCTCACTTTGCTCCTCTCCCTCAGCTAGCTCCCTCTCCTGTTCCTGCCTCTTCTGCCTGCGTCGTTGCCCAGGTTCTTCTTCCAGTTGTCTGTCCCGGGGCTCGAATCTCCTTTGGTCTTCTTCTTGCCTGCGATCTTGTAACAGGCTCTCCTTTCCGTCACACCGGGCTCGCTTCTCCTCATCCAGTCCCGTGGCCTGGCCGAGAGCATAGTAACAAGCTTGAGCCACTTTGAAAATAAATAGGAGGAATTCGTTGAAATCGACACGCCCATTACTGTCAAGATCCAGAAGTTCCAGGATCAGATCTACCGTCTTAGGGTCATGTGGTCTCTATAAAAATGGTGAAAACAAAAATTTTACAATGCACTATTTACAGGTGGTAAAATTATATTCACACATGATATATTTTATGCTATGCTGACATTCAAGAGACATTCAGAGCAATTAGAAAAATGTCCAGTGTGTATCAAGTTTTGTCCCCATGTAAAATGTGAACCCTCACTTTAAAGCATATATTCGTTTGAAATTTTTACATCTCGTAATTTAGTGCTGATCAAACCTAAGGAAGCAGGAAGAGAGACACAAAGTAGAATAGCAGGTAAGCCTACGCACCTTAGAGGCAGAGCCTGAGGTGAAGATTCAAAACAGCATCGTGAACTTGTGTGTAAAATTAACAAAGCTACTCAACATCAAGAAAGAATAACACAAGTTCGCTTTAATTGAGAAAGAATGAACTCATCCTTGAGAGAGATACAATAGAAATTTATGAGGATTTGCAGTAGCCATTTCTGTCTGAAGCAGCCAGTATTCTTGATTTGGTTTCTATTCCATATTAGAAAACAGAACAAAACATTTACGGGTAGCACCATTTTAATAGAGATCAGGCTGATCTCAGTTTTGAAATTTGGAAACAAATTTAAGTTCCTCCAAGTCTAGTGTGATTTGACATCTTTTGTGGTAATGTCCCATGAAGAGCTCATTCACATGGCCATGCCATCAAGTACATGAAATACTTTATTATTCAGACTACAATGTCAAGTAAGTACCTTTTGACTCAGAAATGAATGGGGGATGTAGTGTAGACCTGTTGTGGTGTAAAATGAATATAAAACCACCATTCCTTGCTCTGGTCTCCTCTGAGAATAAATCTCATAGCCTCAAGTCAATAGATCTCATTTTCTTGTTAGTTCTTACCCGAAGCACAGCTCCAAATTCCCTTTCAAGGAGGTTCTTCAGGTCTTTCTTAGTTAATGCTGCTCCATCACAATCATGAGAGACATACTGATTGAAAATTTCAGTGATGTCACAGATGCTTCTCAGAAGTGGAGACATTTTTTTTCTTTCCTTCAAGTTCAAGTAAACCTAGAACAATAAAATAAGATCCAGAATCAAAATCCCGTTTCTGCTTTTGGGAAGGCTTCATTCACACTATTTCAGGCAGATCCCTAAATAATTTGAATTTATAGCGGTAATTTCAACCTGGACTTTCAGAGCACTTTAATATTTGAATATTGTATCAGAAAGAGAAAGAGCGATCCTGAGAAATTCCAAGCCAGGGAATCATCTTCAGACTATCCTGTTGTCAGCTTTTGATTGTCCACCCAATGTGGATTATCTATGCCCTTTTCTTCTGTCTTTCTTCCAGCTCTCCACCGTATTTCAGAGTAGAAAATTAAGAGAAGAGTGCAGAAATTAAAATTTTATATATGTCTACACACCTTCCTTTAAAGTTGAGCGAAGAGGACAGGTAAAAGCCAAAAGGTGAAGGAAGACTTGAGAGTATCTTAAAGTGGATAGAGGCCATGTCAGCAAAACAGTTGGTAGAAAATAGAACAATGAAAAGGGAATATGAATGATTCCTCAACATTACAGTCCATAAAGGATTTAGGAACTCTTATAGAATATAATTTGTAAGTCAGCAATTCTAAGATTAAATAGTACTTCTTCCTAGTCAAAAGATGGCATTGTAACATTCAGATACACAAATGCAGAAAACAGAGACTGTATATTACCTGCCTCAACTCAGATATAGTAAGATATTCGGATATTGAAGTATTGAAAGCTTCTGAGAGGTCCTTTCTAAACCAAACGGAATCCAGAAAACTGTGAATGATATTGGTTTTGTTAAACCCAAATGCATCATTGGAATCTTGGCTTTTTATAAAACATTAGCCAGCAGTAGATCAATGTTATAAGAATACATGGAATGGCTTTGCTGGTGGGATAAGTGTAGTCGTTCATCTAGCTGACTTCTTTATGTACTTCTCAACTCCAGTACCTTAAATGCTGTGACTGTATGAAGATGGCCCATATTAGGTAGAACCAATGTAAAAGAGAACAGAAGGCTGGCAAACTTTTGAGATAGCAGTTTTTAGGAAGATGAACCCTATCAGAGCCACACATGATCATCCTTGATGTGCAGAAGTATAGAGTTCAGAGCCCAAGGAGAAGGGTCATGCTTCAGTTCAAGTGATGGCTCCAACCATAAGAAGATGGGATAGAGTTAGTGATAGTTTATTTATCCCTGCAAAATACTGATACCTTCTGGCACATGGAACCTCCCCCCATATCCCAACATCTGAAATAGCTATAAAAATGGAGAATCATAAAGAAGACCACGATCCCACAGAATGGGACTTACCCACTTCACCAGAGGAAGAAGTCGACAGTGCTTGCTGACACCACAGGCAAGTGTACTGGGTAACTGGGAGCTGGGCCTTTTATAGGGGTTTTAATTGTGCCCTGGAAAGCAACTTGGGAAGGAGACACCCACTCTGTGGGATGGCCTGATTCATTCCTAACCAAGCCCAGCTCCACCTCTGTCTCCACAAATGGCTTGTTTATCTCACTATTTGCTCACGTAGCTATTTGGCACGAGGTTCACAGACCTTGCCTCCTGACAGTCAGGGTACCAGCCCCACCTAACATGGGAGGGTAGAATATTTGGCAGAATCTCCAATTTTCTTAAATTGTTAAAAGTAAATTAAATAATAAAACAAAGGTATTAAATGTTCACAATCTTAATTGATTATTACTTCATTACAAAGGAGTAAACTCTAAGCCATTTGCTTTATAAAAGATACAATCTCTAGTTTGGGATTAAGCAGAAACTTTGAAATAAAGTGATGAAAACCAATTAATTTCTCCATGGGATGTGACAGTCCATGGTGAGCTGCTCATAAGCCCTGCCAGAAGCAGTTGCTTCAATTCTAGGGCAATGAGAGAGCTGTAAAGAATTGGTTAGTTTCTTCTCTAAAAATGCAGGTGGGAAAAATTTTTACATTTGTCTCCCGGGTCTTATGATGGTTTTCCTACAGATTGGGGACTGCCTCCTCAGTAAAGTTTGGAAGGGTACCTTGGAAATATATTTTTATTAAN
|
benign
| 14,709 |
Subsets and Splits
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