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 19, position 13212417, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) variant? Disease(s) if pathogenic?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
TGGGGGGCCCTGAAGAAAAGGGGGTAGGGGTGAGGATGGGGATGGCCCCGCCCACCAGGGCTTATGGGTGAGGGGCACACACAGGACACCACACACAAGGATTGGGCTCCATGGAGGGGAGAGGGTGCGATTGCCAAAGAAAGGGTGGGGTCCGGGGACGGTGAGAGATGACGGGACTCCCTGGAGGGGGGGTGGGGAGGAAGAGGGGGCCGGAGCCCTGCTGGGCGCTGGGCAGGCGCGGTACATACACTGAGGTTATTCCCACGTGGCCGGCCCCTTCTCCTCTGTCACAGCCCCATGGGATGGTGCACACAGAAAAAACAGAAAGAAGAAAATAAATATAAAAGGCAAGAGGGAGAGTGAGGAGGTGGTGCATGGAGAAGAAGCCAAGGAGGGGAGTGGCACTGGCATCAAGAGAAATCGGAGGGAGAAGGCAGGGAGGAAAAGAAAAGTTAAAGTCCTGGCGGGTGGGTGTCCCAGGCCCCCGGGGCTGGGCGTCCTCTATTCCCATGGGTACAGAGGAGACAGACAGGAGATGCAGACAGACAAATGGCAGAGGCATGGGACCGAAAGACAGGACGGCGCAGCCTCGAGCCCCTGGCCCTGGGCTCTGCCTCATGCGATGCACACCCCAACCCCTGGCTCCGGCCGATGCTCAAAGCTTCCATGTGGTGGCCGTCAGCTGGGCTTGTCCCAACCCTCTCCTGGGGCCCAGCAGCTCGGTCCTGAGGGAGCAGCAGCATGCACGCTGGGTGCTCCCCAACCCACGTTCCCAGCAGCCAGAGGCCAGGCCCTCAGGTGACCCTGGTCCAGCCAGGCACAGCACAGCCTCCTGCCCCGTGCAGACGCCACACACGGCACACGGAAAGCTCGCCACAGCCACACATGCCACGCACCCGGGCCAGGCTCTCACAGCCATGCCCTGTTCTCCTCCAGAGGCGGGCTGCGTGCATGGGCCCCCGCTGTTCAGGCCGGGTGGGCAGCCAGCTATGCCTCTGGGCCCTCTGTCCCATGAGTCCAAGGCAACGGGATCACCTGCAGGTGGGCCTGGCAGCTGGGTGAAGCGGCCACACACAGACACACATCAAGCACACACCCCTGTGCCCCCCAATGACTCCCACAGAGACCAGACAGAAAATACGAGCCCAGCTGCCCCCAGACCCACCCCAGACTCTGCTACTGTATCCTAGGACCTGCCAAGTTCCCATATGCAGACACGTGTGCACGTACATGTGTGCATGTGTGAGTACATGTGCAGTGTGTATATGCCCACGTGCACACACGTGTGTGTATGCAAGCATCTGAGTAGGCGCACAGCTGCACATGTGTGTGCATGTATGTTGAGCATGTGTGTGTGTGTTTGTGTAGGGGTGATCTTCGTGGCAGGTCTCAGCTGGCCCTGTTGAACCCTGCTGCACCCACAAATCTTCCACAACCTCCCCTGTCTGCAGCCTCCAACCAGGGCAGCCAGAGACCATTTTGCAGTGGCCACTGCCCTCTGCCCCAGGGGGAGCACTTTCCTCTCTGTCCTCTGTGAGGGAGGAGGGTCTGCAGGTGCTCCAGGTGTGACCAGGTGGTGGGTGGGGCCTGCAGACTGCTTCAGAGACTGAAGGAGTCCCTACCCAGGCCTGAGTCCGGCAGGGAGGGGATGCACTGGGCTGCTTGTGGGGGGGCCTGGCCCTACCCAGTGCAGAGTGAGGGGTCCAGCCCCAGGGCAGTGGTGAAAGCCCTCACCTGGTTCTCTGCAGGGAGGCGGGGCATGGAGGCAGCCCGGCCCTGGCCTTCCATGGGGAGGTAGTGCTCGCTGTCGGAGTAGCCATCTCTGCCCATCTCTCGCATCTCCACGGACTGCGGAGCAGATGGCAAAGCCAGATGAGCTCTGGGGCCTGACCTCCAGATCCCTGGTGTCTGCAGAGGGAGGGAGCTGCAGGTGTGTGTGTGTGGGGGGCCCAGATCCCTTCCACCTGAACCACCCGGGCCCTGGGAGCCATTGGGGAGTTGGGGGACAGAGGCACCTGAGAGTTAGGCTGGCTGTTGGGCATGTCGGTAGGGGGGCCTTGTTCCGGACTCCATGTGCCCGTCTTCTGGAACATCTCCTGGGCACGCTGGGTCACCCAGGACGGGCTCTCCTTGAGGCCGCTTTCGTGAGCCATCCTGCATGGGGGACAGAGGCCGGGGTAGCAGTGGGCGCTTGGGCAGCTTCCAGAACGTGGGGACCACGGCACCCCCACACTCCACCTCCCTGGCAGGGGTGACACTCACAGGGCTCCTCCTGGGTCCAGCTGGGTGGAGGGGAGGGCGTTCTGGCCAGGTCCCCCTTCCTGCGTTGGGGACGGGGGCTCCATGCGCTGGAACATGAGGGGTGTCCGGTCCTGGGGAATGGGGCAGAGAGCAGTGTGTGGACAAGGGTGGGGTGGTGGGACGGTGGTACCCAGAAGGCATTGCGACATCCCCAGTATACACACACACACACACACACACTCTCTCAGGTCTCATCCATCTAGACCCTTCCAATTCCACGCAGAACTGGACCACTTCTCACTCCTCCACCCAAGTCATAGCCCCAGCCTGGTCCCACGTCCTCATCTCTCACTGCAGGCACCTTCTCCCAGGTCTCCCGCTCCTACCTTCAACCCCACTGTTCCACAAGAGCCACCAGAGGGCGCCCATGAGCACTTGAGTCAGGTCCTATCCCTCCTTTGCTTAGAACCCTCCATGGCTCCCACTTGCTTGGGGAAAAAGCCAGAGTCCTTCCTGCAGCTCCCATGGCCCTGAAGGATCTGCCCTGTCACCTCCTTGCCCTTGTCTCCTCCCTGCTCTTTTCCACCACACTGGCCTCTTTGCTGTTACCCAAACAACCCAGGCACGGTCCAGCCTCAGAGCCTTTGCACTGGCTGTTTCCTCTGCCTGGAACACCCTTCCAGGTATTGCTTAGCTCACTCCCTCTCCCCTTTTCCTTCAAGCCTTTGCTCACATGTCACTTTCTCAGGGAGGCTCCCCAACTACCCATTTCCCACCGCATCCCCTCCTCCCCTGGATACTCCTATCTTCTGGATTCTTCTCCACTTTCCCCCACGACACTTTCTTTCTCTTTGCTGGATGTTGCACGATTCAGTCATTTGCTACCATTGGCATTTCCCCACTTGGAATGTCTGCTCCCTGAGGGCAGGGATTCTGGCCTATTTTCCCCATGGGTGCATCCCCGAGGACTGAGAACAGCGCCCTGCACACAGTAATACTCAATAAGTGTTGGTGGAGCAGCTGAATGAAGAATGAATCCACATGATGTGTCCTTGGCAAGAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCCTGCTCTTATCACCCGGGCTGGAGTGCAGTGGCTTGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCATGGCGCCACATGCAGCTAATTTTATTTTTTTTTTGTAGAGATATGGGTCTTTCTATGTTGCCCAGACTGGTCTCCCACTCCTGGCCTCAAGTGATCCTCCCATCTTGGCCTCCTAAATAGCTGGGACTACAGGTGTGCACCACCATGCCTGGCTAATGTTTTATTTTGTAGAGATGGAGTCTCACTGTGTTGCCCAGGGTGGTCTCATCCTGGTCTCAAACGATCCCTCTGCCCTGGCCTCTCAAAGCACTGAGATTGCAGGTGTGAGCTGCTGTGCACAGCCCCTACTTTTCAGGGACCTGCCCTGGGGCTCAGCCACCCTCATATTCCAGTTGGTTCCCGTGGTGACATGCAAGCCACTGTCCCCAGCCCAGATGTCCCCAGAGCGGCGAACAGCGCACCTGCTCCTCGCGCATGGCCTGCAGCTTCTTGGCCTTGCTCTGCCGGTAGTACTCCATGATCATCATGGCTGCGTAGATCTTCCCCACGGTGAGGTCCGTGGCTGGGGGCACACACACGGTGAGCTCACCAAGGGCAGGCCTCTTTGGGGCCCTTGTCCTGGGTCCCTGTGTATACCAGCCCAGGCCAACACTCTCCCCAGGCCTCCCCTTTCCCTCCCCCTCCATCTGTCCT
|
TGGGGGGCCCTGAAGAAAAGGGGGTAGGGGTGAGGATGGGGATGGCCCCGCCCACCAGGGCTTATGGGTGAGGGGCACACACAGGACACCACACACAAGGATTGGGCTCCATGGAGGGGAGAGGGTGCGATTGCCAAAGAAAGGGTGGGGTCCGGGGACGGTGAGAGATGACGGGACTCCCTGGAGGGGGGGTGGGGAGGAAGAGGGGGCCGGAGCCCTGCTGGGCGCTGGGCAGGCGCGGTACATACACTGAGGTTATTCCCACGTGGCCGGCCCCTTCTCCTCTGTCACAGCCCCATGGGATGGTGCACACAGAAAAAACAGAAAGAAGAAAATAAATATAAAAGGCAAGAGGGAGAGTGAGGAGGTGGTGCATGGAGAAGAAGCCAAGGAGGGGAGTGGCACTGGCATCAAGAGAAATCGGAGGGAGAAGGCAGGGAGGAAAAGAAAAGTTAAAGTCCTGGCGGGTGGGTGTCCCAGGCCCCCGGGGCTGGGCGTCCTCTATTCCCATGGGTACAGAGGAGACAGACAGGAGATGCAGACAGACAAATGGCAGAGGCATGGGACCGAAAGACAGGACGGCGCAGCCTCGAGCCCCTGGCCCTGGGCTCTGCCTCATGCGATGCACACCCCAACCCCTGGCTCCGGCCGATGCTCAAAGCTTCCATGTGGTGGCCGTCAGCTGGGCTTGTCCCAACCCTCTCCTGGGGCCCAGCAGCTCGGTCCTGAGGGAGCAGCAGCATGCACGCTGGGTGCTCCCCAACCCACGTTCCCAGCAGCCAGAGGCCAGGCCCTCAGGTGACCCTGGTCCAGCCAGGCACAGCACAGCCTCCTGCCCCGTGCAGACGCCACACACGGCACACGGAAAGCTCGCCACAGCCACACATGCCACGCACCCGGGCCAGGCTCTCACAGCCATGCCCTGTTCTCCTCCAGAGGCGGGCTGCGTGCATGGGCCCCCGCTGTTCAGGCCGGGTGGGCAGCCAGCTATGCCTCTGGGCCCTCTGTCCCATGAGTCCAAGGCAACGGGATCACCTGCAGGTGGGCCTGGCAGCTGGGTGAAGCGGCCACACACAGACACACATCAAGCACACACCCCTGTGCCCCCCAATGACTCCCACAGAGACCAGACAGAAAATACGAGCCCAGCTGCCCCCAGACCCACCCCAGACTCTGCTACTGTATCCTAGGACCTGCCAAGTTCCCATATGCAGACACGTGTGCACGTACATGTGTGCATGTGTGAGTACATGTGCAGTGTGTATATGCCCACGTGCACACACGTGTGTGTATGCAAGCATCTGAGTAGGCGCACAGCTGCACATGTGTGTGCATGTATGTTGAGCATGTGTGTGTGTGTTTGTGTAGGGGTGATCTTCGTGGCAGGTCTCAGCTGGCCCTGTTGAACCCTGCTGCACCCACAAATCTTCCACAACCTCCCCTGTCTGCAGCCTCCAACCAGGGCAGCCAGAGACCATTTTGCAGTGGCCACTGCCCTCTGCCCCAGGGGGAGCACTTTCCTCTCTGTCCTCTGTGAGGGAGGAGGGTCTGCAGGTGCTCCAGGTGTGACCAGGTGGTGGGTGGGGCCTGCAGACTGCTTCAGAGACTGAAGGAGTCCCTACCCAGGCCTGAGTCCGGCAGGGAGGGGATGCACTGGGCTGCTTGTGGGGGGGCCTGGCCCTACCCAGTGCAGAGTGAGGGGTCCAGCCCCAGGGCAGTGGTGAAAGCCCTCACCTGGTTCTCTGCAGGGAGGCGGGGCATGGAGGCAGCCCGGCCCTGGCCTTCCATGGGGAGGTAGTGCTCGCTGTCGGAGTAGCCATCTCTGCCCATCTCTCGCATCTCCACGGACTGCGGAGCAGATGGCAAAGCCAGATGAGCTCTGGGGCCTGACCTCCAGATCCCTGGTGTCTGCAGAGGGAGGGAGCTGCAGGTGTGTGTGTGTGGGGGGCCCAGATCCCTTCCACCTGAACCACCCGGGCCCTGGGAGCCATTGGGGAGTTGGGGGACAGAGGCACCTGAGAGTTAGGCTGGCTGTTGGGCATGTCGGTAGGGGGGGCCTTGTTCCGGACTCCATGTGCCCGTCTTCTGGAACATCTCCTGGGCACGCTGGGTCACCCAGGACGGGCTCTCCTTGAGGCCGCTTTCGTGAGCCATCCTGCATGGGGGACAGAGGCCGGGGTAGCAGTGGGCGCTTGGGCAGCTTCCAGAACGTGGGGACCACGGCACCCCCACACTCCACCTCCCTGGCAGGGGTGACACTCACAGGGCTCCTCCTGGGTCCAGCTGGGTGGAGGGGAGGGCGTTCTGGCCAGGTCCCCCTTCCTGCGTTGGGGACGGGGGCTCCATGCGCTGGAACATGAGGGGTGTCCGGTCCTGGGGAATGGGGCAGAGAGCAGTGTGTGGACAAGGGTGGGGTGGTGGGACGGTGGTACCCAGAAGGCATTGCGACATCCCCAGTATACACACACACACACACACACACTCTCTCAGGTCTCATCCATCTAGACCCTTCCAATTCCACGCAGAACTGGACCACTTCTCACTCCTCCACCCAAGTCATAGCCCCAGCCTGGTCCCACGTCCTCATCTCTCACTGCAGGCACCTTCTCCCAGGTCTCCCGCTCCTACCTTCAACCCCACTGTTCCACAAGAGCCACCAGAGGGCGCCCATGAGCACTTGAGTCAGGTCCTATCCCTCCTTTGCTTAGAACCCTCCATGGCTCCCACTTGCTTGGGGAAAAAGCCAGAGTCCTTCCTGCAGCTCCCATGGCCCTGAAGGATCTGCCCTGTCACCTCCTTGCCCTTGTCTCCTCCCTGCTCTTTTCCACCACACTGGCCTCTTTGCTGTTACCCAAACAACCCAGGCACGGTCCAGCCTCAGAGCCTTTGCACTGGCTGTTTCCTCTGCCTGGAACACCCTTCCAGGTATTGCTTAGCTCACTCCCTCTCCCCTTTTCCTTCAAGCCTTTGCTCACATGTCACTTTCTCAGGGAGGCTCCCCAACTACCCATTTCCCACCGCATCCCCTCCTCCCCTGGATACTCCTATCTTCTGGATTCTTCTCCACTTTCCCCCACGACACTTTCTTTCTCTTTGCTGGATGTTGCACGATTCAGTCATTTGCTACCATTGGCATTTCCCCACTTGGAATGTCTGCTCCCTGAGGGCAGGGATTCTGGCCTATTTTCCCCATGGGTGCATCCCCGAGGACTGAGAACAGCGCCCTGCACACAGTAATACTCAATAAGTGTTGGTGGAGCAGCTGAATGAAGAATGAATCCACATGATGTGTCCTTGGCAAGAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCCTGCTCTTATCACCCGGGCTGGAGTGCAGTGGCTTGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCATGGCGCCACATGCAGCTAATTTTATTTTTTTTTTGTAGAGATATGGGTCTTTCTATGTTGCCCAGACTGGTCTCCCACTCCTGGCCTCAAGTGATCCTCCCATCTTGGCCTCCTAAATAGCTGGGACTACAGGTGTGCACCACCATGCCTGGCTAATGTTTTATTTTGTAGAGATGGAGTCTCACTGTGTTGCCCAGGGTGGTCTCATCCTGGTCTCAAACGATCCCTCTGCCCTGGCCTCTCAAAGCACTGAGATTGCAGGTGTGAGCTGCTGTGCACAGCCCCTACTTTTCAGGGACCTGCCCTGGGGCTCAGCCACCCTCATATTCCAGTTGGTTCCCGTGGTGACATGCAAGCCACTGTCCCCAGCCCAGATGTCCCCAGAGCGGCGAACAGCGCACCTGCTCCTCGCGCATGGCCTGCAGCTTCTTGGCCTTGCTCTGCCGGTAGTACTCCATGATCATCATGGCTGCGTAGATCTTCCCCACGGTGAGGTCCGTGGCTGGGGGCACACACACGGTGAGCTCACCAAGGGCAGGCCTCTTTGGGGCCCTTGTCCTGGGTCCCTGTGTATACCAGCCCAGGCCAACACTCTCCCCAGGCCTCCCCTTTCCCTCCCCCTCCATCTGTCC
|
pathogenic
| 299,842 |
Regarding the variant found on chromosome 19 at position 13224652 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
CCAGGATGGTCTCGATTTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCTATTACAGGCGTGAGCCAGCGTGCCCGGCCTCAGCTTTTTTTTTTTTTGAGACAGCGTCTTGCTCTGTCATCCAGGCTGGAGTTCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGGTTACAGGCGCCCACCATGACACCCGGCTACTTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCAGCCCCTTCTCAGCTTTAAAAAAAATGTTTTTTTCTTTTTCTTTCTGTTGTTTTGAGCTAGGATCTCGTTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCATGACTCACTGCAGCCTCAAACTCCTGGCTTCAAGCAATACTCTCATCTCTGCCTCCTGAGTAGCTGGGACCACAGGCATATGCCACCATGTCCAGTTAATTTAATTTAATTTAATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGTAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCATCCTCCCTAGTAGCTGGGACTACAGTACCCACCACCACGTCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGGTTTCACCACATTGGCCAGGCTGGTCATCCTGACCTCAAGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGTCGAGCCTACCCCTAGATCTAAGCTGCCGCCCTGTCTCCACCCAGATGATATCAGCAGCCCCCACACTGGCCTCCTTTCGGTCTCCCATCCCCTCAGTGGCCGGAGGGAACCTGTTCAAATGTGAGTTGGGTCAGGTTCCTCCTCTGCTCTGAACCTGCGTGGCGTGCCCTCACTCAGAAGGTGAGTCAGCTCAATGCCCCGGGTGTCCTGTGTTCACCCCTCTGTCAGGGCCTTTGCCAGTCCTTCTGCCTGGAGCACCTTCCCCCCAGGGATCCATGAGACACTGCCTTACCTCCTCAGTGGCGGCCTCCCCATCCATCTAAAGTGTAAGCTGCTGGGTCCTCCCCTGCTTGGACGGGTCTCTGGCACATTGAAGGAGTGCACTAAATATCTGCCAAATGGGCCGGGTGTGGTGGCTCATGCCTGTAATACCAGCATTTTGGGAGACCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACCTGATGAAACCCCATCTCTATAAAAAATATAAAAAATTAGGTTGGGCATGGTGGCTCACGCCTGTAATCCAGCACTTTGAGAGGTCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCCAAAATATAAAAAATTAGCCGGGTGTGCTGGTGGGTACCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTAGCAATGAGCCAAGATCACACCACTGCACTTCAGCCTGGGTGACAGAGGGAAATTGTCACACCAAAAAAAAAAAAATTAGCCGAGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGACTTGCGATCATGTCACCGCACTGCTGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACACCAAAACCCCAAACCCCAAAAAACCCTGTGGAACGAATGAATGGAAGAGTGAATGAAGATCCGGGTGGTGACAGCAGATCCTCTAGTTTGGGGTAGGGAGGGAGATCCCCGGTTCCACCCTGTCACGCCTGTCTGTGCCCGCCCCTGTCCCTTCCTTACCCTTGGCAATCTTGATGTCCAGGGCTGTGCGGATCAGAGCCATGAGGGTGGAATTGAAGTGGACGGTGTTGTCATCTGCGACGGGCAGGTCCATCCGCAGAAGCCGCTACAGAAAACCCAAGGCAAGCGCAGTCATTCCCAGGCATCCCTCCTGGGTCTCCCGTGAGCCGCGCCCGCCCCTACCCAGGGAGTCCCAGGAAGAACTCTGAAAGCTGTGGCGGCTGAGGTGTCTCTTACTTAGGTTACCTGTCCCAGTACTCAGTTTCTCTTGGTGGCCCGCAGGGAGGGCACAAAAGGCTCTCTTGTACTTCTGGTCCCCTGCCCTCTCCTTTTTTCCCCCACCTGCTTGACCTGAGAGCTGGCATTTCCAGGGTTTGCCTCAACCCTTGCCCCACCCCCGCCCTGCCCCAGAGTTCTTCTGGATGGCCCCGTTTCAGTCTGACCCCAAAGAAAAAGAGCACAAGCTGGATTTGAGCAGTGCATGCAACAGCCAAGGCTGAGGGGGCCAGGACCACAGCCGCTGGTGGGGGGTGCCACTGGCTCCCCACACCCAATCCCTGGCTTGGCCCAGACCAGGACAGAGCAGATGGGCACAGACCACATCATTCCTCTGAGAAGCAGCAGGCAGGCAGCCCCCCACTGACGGGGCAGGCCCCTCGCAGGCATGCAGCGAGGCTGTGACACAGAACAGCACAGACAGGGGCGCATGCAGACGGAATCTCGAGACTCATTCATAGCTCCGTGGGAAGTGTATCTCAGGGGCATGTCCAGATCTTGGCTCTCTGTGCAATGGCAGGGGGAAGGGGTGAGGGGCACTCCCTTCCAGCCCAGGGAAGAAAAGATTCCCCATGTCCCAGGCAGGGGCTCTGTCCACCATGCTTGGTGGCATGGGAGAGGATGCTGGGCTGGTGTGCACCAGCCCAGGCTGAAGTGGCACAGAGAAGGGGGGTGAGGGCAACTTGGGTGGGGATTCAGACACAAGTGGGCAGGAAACACAGAGTTGAAGATGGGGAGGGGTATGGTAAATCCAGAGCAGGACACTGGAGGGGACACTGGGGGTAGGGTGGGGAAGGAGGTGGGAAATAGAGAAACACACATAGACTGGGCCACTGTGCACAGTTGTGCAGGTTGTACACCGCACAAAGGGCTCCCATCTTGGAAATGATAGATTTATGTACTTATTTATTAATTAAAATATTTTTTCTTTTTGTAGAGATGGGGTCTCGCTATGTTGCCCAGGCTAGTCTCGAACTGGGCTCAAGTGATCCTCCCGTCTCAGCCTCCCAAAGCACTAGGATTACAGGCATGAGCCACCACGCCCAGCCCCCGATTTGTATATTAAATATAACAGCTTCCCAGGTGATAGAAAAAAAGTGTCTTGTTCTCACCACATTGGTAGATTGCAACAATTTTCCAACAGGCATGTTCTGTGGAAAGGGTGCCTTTTTCAAATTTGCACAAAGTTGTCTTATGGACCCATGGTGGTCCTGCACAAAGACCAGGAGAGGAAGGGCTCGCCCTCCCTCTCTTGCACATGCGCACACATTCATCTAAGCAGAGACTGAGAGAAGCGACTTGAGGAAAACCGGGGGGGGGGGGGGGGGCGGCAGGGAGGGGCACAGAGCGACAGGTGCCAGGAGAGGCTCATTGTCTGAGATGCTGGTGGGACAACCTTGTCCCCGGCTTTGATTGAGAAGGAGGGGAGACATATAGGTTAGGTGAGGAGGGGTGCACAGAGGAAGGAAAGGAATGAGGTGGCAACACGGGGCAGGTACAAATAGCATTGATGGATAGGGACGCAGGGAAGATCAAGGTGGATGGGAGAATAGGATGATGGGGTAATACTTTTTGGGTGGGGAGAATCTTTAAAGGTCATCCCTGAACTTCTTGTGGATGAATGGAGGGAACAGAGCATCTGTCCTTGGGCACCAAGGGAGATTCCAGGACAGGGATCTGGAGGGGTGGCCCGGGCCAGCCGCTTGGCGGCAGGACGCTCGCTCTCTCAGCCAGCATGCACCACCCCCCGTCGGCCA
|
CCAGGATGGTCTCGATTTCTTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCTATTACAGGCGTGAGCCAGCGTGCCCGGCCTCAGCTTTTTTTTTTTTTGAGACAGCGTCTTGCTCTGTCATCCAGGCTGGAGTTCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGGTTACAGGCGCCCACCATGACACCCGGCTACTTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCAGCCCCTTCTCAGCTTTAAAAAAAATGTTTTTTTCTTTTTCTTTCTGTTGTTTTGAGCTAGGATCTCGTTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCATGACTCACTGCAGCCTCAAACTCCTGGCTTCAAGCAATACTCTCATCTCTGCCTCCTGAGTAGCTGGGACCACAGGCATATGCCACCATGTCCAGTTAATTTAATTTAATTTAATTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGTAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCATCCTCCCTAGTAGCTGGGACTACAGTACCCACCACCACGTCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGGTTTCACCACATTGGCCAGGCTGGTCATCCTGACCTCAAGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGTCGAGCCTACCCCTAGATCTAAGCTGCCGCCCTGTCTCCACCCAGATGATATCAGCAGCCCCCACACTGGCCTCCTTTCGGTCTCCCATCCCCTCAGTGGCCGGAGGGAACCTGTTCAAATGTGAGTTGGGTCAGGTTCCTCCTCTGCTCTGAACCTGCGTGGCGTGCCCTCACTCAGAAGGTGAGTCAGCTCAATGCCCCGGGTGTCCTGTGTTCACCCCTCTGTCAGGGCCTTTGCCAGTCCTTCTGCCTGGAGCACCTTCCCCCCAGGGATCCATGAGACACTGCCTTACCTCCTCAGTGGCGGCCTCCCCATCCATCTAAAGTGTAAGCTGCTGGGTCCTCCCCTGCTTGGACGGGTCTCTGGCACATTGAAGGAGTGCACTAAATATCTGCCAAATGGGCCGGGTGTGGTGGCTCATGCCTGTAATACCAGCATTTTGGGAGACCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACCTGATGAAACCCCATCTCTATAAAAAATATAAAAAATTAGGTTGGGCATGGTGGCTCACGCCTGTAATCCAGCACTTTGAGAGGTCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCCAAAATATAAAAAATTAGCCGGGTGTGCTGGTGGGTACCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTAGCAATGAGCCAAGATCACACCACTGCACTTCAGCCTGGGTGACAGAGGGAAATTGTCACACCAAAAAAAAAAAAATTAGCCGAGTATGGTGGTGTGTGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGACTTGCGATCATGTCACCGCACTGCTGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACACCAAAACCCCAAACCCCAAAAAACCCTGTGGAACGAATGAATGGAAGAGTGAATGAAGATCCGGGTGGTGACAGCAGATCCTCTAGTTTGGGGTAGGGAGGGAGATCCCCGGTTCCACCCTGTCACGCCTGTCTGTGCCCGCCCCGTCCCTTCCTTACCCTTGGCAATCTTGATGTCCAGGGCTGTGCGGATCAGAGCCATGAGGGTGGAATTGAAGTGGACGGTGTTGTCATCTGCGACGGGCAGGTCCATCCGCAGAAGCCGCTACAGAAAACCCAAGGCAAGCGCAGTCATTCCCAGGCATCCCTCCTGGGTCTCCCGTGAGCCGCGCCCGCCCCTACCCAGGGAGTCCCAGGAAGAACTCTGAAAGCTGTGGCGGCTGAGGTGTCTCTTACTTAGGTTACCTGTCCCAGTACTCAGTTTCTCTTGGTGGCCCGCAGGGAGGGCACAAAAGGCTCTCTTGTACTTCTGGTCCCCTGCCCTCTCCTTTTTTCCCCCACCTGCTTGACCTGAGAGCTGGCATTTCCAGGGTTTGCCTCAACCCTTGCCCCACCCCCGCCCTGCCCCAGAGTTCTTCTGGATGGCCCCGTTTCAGTCTGACCCCAAAGAAAAAGAGCACAAGCTGGATTTGAGCAGTGCATGCAACAGCCAAGGCTGAGGGGGCCAGGACCACAGCCGCTGGTGGGGGGTGCCACTGGCTCCCCACACCCAATCCCTGGCTTGGCCCAGACCAGGACAGAGCAGATGGGCACAGACCACATCATTCCTCTGAGAAGCAGCAGGCAGGCAGCCCCCCACTGACGGGGCAGGCCCCTCGCAGGCATGCAGCGAGGCTGTGACACAGAACAGCACAGACAGGGGCGCATGCAGACGGAATCTCGAGACTCATTCATAGCTCCGTGGGAAGTGTATCTCAGGGGCATGTCCAGATCTTGGCTCTCTGTGCAATGGCAGGGGGAAGGGGTGAGGGGCACTCCCTTCCAGCCCAGGGAAGAAAAGATTCCCCATGTCCCAGGCAGGGGCTCTGTCCACCATGCTTGGTGGCATGGGAGAGGATGCTGGGCTGGTGTGCACCAGCCCAGGCTGAAGTGGCACAGAGAAGGGGGGTGAGGGCAACTTGGGTGGGGATTCAGACACAAGTGGGCAGGAAACACAGAGTTGAAGATGGGGAGGGGTATGGTAAATCCAGAGCAGGACACTGGAGGGGACACTGGGGGTAGGGTGGGGAAGGAGGTGGGAAATAGAGAAACACACATAGACTGGGCCACTGTGCACAGTTGTGCAGGTTGTACACCGCACAAAGGGCTCCCATCTTGGAAATGATAGATTTATGTACTTATTTATTAATTAAAATATTTTTTCTTTTTGTAGAGATGGGGTCTCGCTATGTTGCCCAGGCTAGTCTCGAACTGGGCTCAAGTGATCCTCCCGTCTCAGCCTCCCAAAGCACTAGGATTACAGGCATGAGCCACCACGCCCAGCCCCCGATTTGTATATTAAATATAACAGCTTCCCAGGTGATAGAAAAAAAGTGTCTTGTTCTCACCACATTGGTAGATTGCAACAATTTTCCAACAGGCATGTTCTGTGGAAAGGGTGCCTTTTTCAAATTTGCACAAAGTTGTCTTATGGACCCATGGTGGTCCTGCACAAAGACCAGGAGAGGAAGGGCTCGCCCTCCCTCTCTTGCACATGCGCACACATTCATCTAAGCAGAGACTGAGAGAAGCGACTTGAGGAAAACCGGGGGGGGGGGGGGGGGCGGCAGGGAGGGGCACAGAGCGACAGGTGCCAGGAGAGGCTCATTGTCTGAGATGCTGGTGGGACAACCTTGTCCCCGGCTTTGATTGAGAAGGAGGGGAGACATATAGGTTAGGTGAGGAGGGGTGCACAGAGGAAGGAAAGGAATGAGGTGGCAACACGGGGCAGGTACAAATAGCATTGATGGATAGGGACGCAGGGAAGATCAAGGTGGATGGGAGAATAGGATGATGGGGTAATACTTTTTGGGTGGGGAGAATCTTTAAAGGTCATCCCTGAACTTCTTGTGGATGAATGGAGGGAACAGAGCATCTGTCCTTGGGCACCAAGGGAGATTCCAGGACAGGGATCTGGAGGGGTGGCCCGGGCCAGCCGCTTGGCGGCAGGACGCTCGCTCTCTCAGCCAGCATGCACCACCCCCCGTCGGCCAN
|
benign
| 299,877 |
Variant at chromosome position 13227366, chromosome 19, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
GCCCCTCGCAGGCATGCAGCGAGGCTGTGACACAGAACAGCACAGACAGGGGCGCATGCAGACGGAATCTCGAGACTCATTCATAGCTCCGTGGGAAGTGTATCTCAGGGGCATGTCCAGATCTTGGCTCTCTGTGCAATGGCAGGGGGAAGGGGTGAGGGGCACTCCCTTCCAGCCCAGGGAAGAAAAGATTCCCCATGTCCCAGGCAGGGGCTCTGTCCACCATGCTTGGTGGCATGGGAGAGGATGCTGGGCTGGTGTGCACCAGCCCAGGCTGAAGTGGCACAGAGAAGGGGGGTGAGGGCAACTTGGGTGGGGATTCAGACACAAGTGGGCAGGAAACACAGAGTTGAAGATGGGGAGGGGTATGGTAAATCCAGAGCAGGACACTGGAGGGGACACTGGGGGTAGGGTGGGGAAGGAGGTGGGAAATAGAGAAACACACATAGACTGGGCCACTGTGCACAGTTGTGCAGGTTGTACACCGCACAAAGGGCTCCCATCTTGGAAATGATAGATTTATGTACTTATTTATTAATTAAAATATTTTTTCTTTTTGTAGAGATGGGGTCTCGCTATGTTGCCCAGGCTAGTCTCGAACTGGGCTCAAGTGATCCTCCCGTCTCAGCCTCCCAAAGCACTAGGATTACAGGCATGAGCCACCACGCCCAGCCCCCGATTTGTATATTAAATATAACAGCTTCCCAGGTGATAGAAAAAAAGTGTCTTGTTCTCACCACATTGGTAGATTGCAACAATTTTCCAACAGGCATGTTCTGTGGAAAGGGTGCCTTTTTCAAATTTGCACAAAGTTGTCTTATGGACCCATGGTGGTCCTGCACAAAGACCAGGAGAGGAAGGGCTCGCCCTCCCTCTCTTGCACATGCGCACACATTCATCTAAGCAGAGACTGAGAGAAGCGACTTGAGGAAAACCGGGGGGGGGGGGGGGGGCGGCAGGGAGGGGCACAGAGCGACAGGTGCCAGGAGAGGCTCATTGTCTGAGATGCTGGTGGGACAACCTTGTCCCCGGCTTTGATTGAGAAGGAGGGGAGACATATAGGTTAGGTGAGGAGGGGTGCACAGAGGAAGGAAAGGAATGAGGTGGCAACACGGGGCAGGTACAAATAGCATTGATGGATAGGGACGCAGGGAAGATCAAGGTGGATGGGAGAATAGGATGATGGGGTAATACTTTTTGGGTGGGGAGAATCTTTAAAGGTCATCCCTGAACTTCTTGTGGATGAATGGAGGGAACAGAGCATCTGTCCTTGGGCACCAAGGGAGATTCCAGGACAGGGATCTGGAGGGGTGGCCCGGGCCAGCCGCTTGGCGGCAGGACGCTCGCTCTCTCAGCCAGCATGCACCACCCCCCGTCGGCCATGGTGCCTGCCCGCCCCAGGCCCCGCCAAGGCAGCGTGCATGGCCTGCATCAGTGTGCCACCGTCCAGGGGTCCAGCTGCGGCCGCCTGCCCACTCTGGAACAATGGAGAGGCATGTTGGGGTGTCTTGGGGGGATTAGGGACGGGGGCTGGGGACGAAACTCCAGGGGAAGGAAGGGAGGGGAAGAGAGGTTCTTGGTGCTCCTTGGAAGGTCTCGAATCCCCAAGGCCCTAGGTCAGAGATCAGCTTCAGGTGTGCGTGGCAGGGGCGGGGACCCGGGACCTCGCCTGCTTTCGGGGGCTAAAGCCCCTCTCTGCAAGGCGCCTGCCCCAGCCTGGGCATGGGGGCCGCTCTGGGTGGGCAGAAGTGGGAAGCATGGGTTTTGACTCCCTGAAGAAGCGTGTTTGTTTCCAATTTGGTACCTGGGAGACCAGGTGCAAGGGGACCTGGGCGCTCCCCTCCCCCTCCCCCCGGCATGTCGGCCATAATGGAGTCTCAAAACACGAAGACACTCATCAGAAAGGACGGACACAGTGTGCTGCTTAGAATCAAGGGATGGTCATGATCAGTTGACTCGAGAAAAGAAAAAAAAGAATCAAAAACAAAAAAGAAGAGAAACGTTGGAAAAAGAGAGTCGGCCGGGTGTTTCTGGTCAGCACTAAAAAAAAAGAAGAAGAAGAAGAAAAAAAAACCCAGTGCCTGGACGTCGGTGGTCGGCAAGGGTAGTCTACCTTGTAAGCCACTCTGGCCGGACACTTCTTCCCCAGACCCAGGGGCGGAGACATGTGTCTCAGCATCTGATACATGTCCAGGTAAGGCATGCGGCCCCTGGCAGCACCGAAAATGAAAAAAACAAAAACAAAAACAAAAAAACAAAACGGGAATGGGAACAGAGAACCAAAGGAAGAGAGGTGGGGAGAAACAGAAGAAAGAAAAAAGAAATCCACACGAGCCGAAAAAATAGAGAGAGAAAGATGCAGAGAATGATAAAATAGATATTTCAAATCAATGGAAAAGAGGAGGAAAAAAAATGGAAGAAAAGGTCAGTAAAAAAAGATTACTTCACTGCTCGGGAGCAGGGAGAGAGAGAGAAAAGAGAAAAGTCAGATTCAGCGTGGGCTCTGAGCTACAGTTCTGGAGGGATGCGGAGGGGAGGGAGAATTCTCACTTTGGAAGACGTAGAGCCATGCTTTTGTTCATTGCCTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAGACAGGGTCTCTCTCTGTCGCCTGGGTTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCTGGCTAATTTTTTATAGAGAAGGGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGAGCAAGCAAAGATGGCTGAAGGCTGAAGGGAAGGAGGAAATATGTTCCATGCTTTATCGAGTCTACATGACTGCATTCTGTTGGCTAAGAGAGTTTTCTAGTTTAATGCAAGAAAGAGAGATGGCTCTGTTTTTTTAGAGAGAGAGAGAGATATATATATATATATATATGAAATATATATATTGAAGAACCCCAAGCCACACTCATTCCATGGATGCTAGCAGGTTTTAGTGGAAGTCAAACCTTGCAAGCAACCCTATGAGGACATTTCTTGCCTAAGCCGAGAGGGGGAGATATTACTCGTAATAAACTGTACATATCCTTATAATGAATCCGACCGCTGAAAGGAGAAGAAAGGGGGTTAGTGCAGGCAATGGGTTCACACGGGCTCCCTGGGCACACAGCGAGGTCATGATGCCCGAGGCTGGGGTGTCCCTGGCTTGAAGGAGTGGGAGAGACTGGGGACAAGTGAAGGTCCCCAGTACATTCCCAGACACTGGGGAGACCCAGGGGTGTAGGATGTCAGTCGAGTTCGGGACTGCAGGGCACCTCCCCTGGGGCTCTCTCTGCATCTGCCTCCTCCACAGTCTACATGGGCTACAGGGGTGGGGGGGGGCTTGTGGAATAGAGGCCTTGGGGACAGCATCCAATTGCTGTGACCTAAAATCAAAAGAGGAAGAGTTAGGAACCAGCCAAAGCCCAGCCCCAGACCCACGGCTCTCCCCAGCCTCTCGGTCTCATGGAGTACTTGTTTGAGGCTATGGGAATAGCCAAGACCACCTCCTGCCCACCTTCCTCGTGACGGCCTCCTCTCTGGTGCTGAGGCCAGAGGAAGATGGGGCTTAGGCTGCTGAGGGCCCCCCAGTAATGCTTCTTCAGGCCCCAAGACCAGCCTGAACTAAATCCTCAGTTAGTGGCTGGTGGGTTCCAGGTATTCAGATAAAGCCTCTGAGTGTCC
|
GCCCCTCGCAGGCATGCAGCGAGGCTGTGACACAGAACAGCACAGACAGGGGCGCATGCAGACGGAATCTCGAGACTCATTCATAGCTCCGTGGGAAGTGTATCTCAGGGGCATGTCCAGATCTTGGCTCTCTGTGCAATGGCAGGGGGAAGGGGTGAGGGGCACTCCCTTCCAGCCCAGGGAAGAAAAGATTCCCCATGTCCCAGGCAGGGGCTCTGTCCACCATGCTTGGTGGCATGGGAGAGGATGCTGGGCTGGTGTGCACCAGCCCAGGCTGAAGTGGCACAGAGAAGGGGGGTGAGGGCAACTTGGGTGGGGATTCAGACACAAGTGGGCAGGAAACACAGAGTTGAAGATGGGGAGGGGTATGGTAAATCCAGAGCAGGACACTGGAGGGGACACTGGGGGTAGGGTGGGGAAGGAGGTGGGAAATAGAGAAACACACATAGACTGGGCCACTGTGCACAGTTGTGCAGGTTGTACACCGCACAAAGGGCTCCCATCTTGGAAATGATAGATTTATGTACTTATTTATTAATTAAAATATTTTTTCTTTTTGTAGAGATGGGGTCTCGCTATGTTGCCCAGGCTAGTCTCGAACTGGGCTCAAGTGATCCTCCCGTCTCAGCCTCCCAAAGCACTAGGATTACAGGCATGAGCCACCACGCCCAGCCCCCGATTTGTATATTAAATATAACAGCTTCCCAGGTGATAGAAAAAAAGTGTCTTGTTCTCACCACATTGGTAGATTGCAACAATTTTCCAACAGGCATGTTCTGTGGAAAGGGTGCCTTTTTCAAATTTGCACAAAGTTGTCTTATGGACCCATGGTGGTCCTGCACAAAGACCAGGAGAGGAAGGGCTCGCCCTCCCTCTCTTGCACATGCGCACACATTCATCTAAGCAGAGACTGAGAGAAGCGACTTGAGGAAAACCGGGGGGGGGGGGGGGGGCGGCAGGGAGGGGCACAGAGCGACAGGTGCCAGGAGAGGCTCATTGTCTGAGATGCTGGTGGGACAACCTTGTCCCCGGCTTTGATTGAGAAGGAGGGGAGACATATAGGTTAGGTGAGGAGGGGTGCACAGAGGAAGGAAAGGAATGAGGTGGCAACACGGGGCAGGTACAAATAGCATTGATGGATAGGGACGCAGGGAAGATCAAGGTGGATGGGAGAATAGGATGATGGGGTAATACTTTTTGGGTGGGGAGAATCTTTAAAGGTCATCCCTGAACTTCTTGTGGATGAATGGAGGGAACAGAGCATCTGTCCTTGGGCACCAAGGGAGATTCCAGGACAGGGATCTGGAGGGGTGGCCCGGGCCAGCCGCTTGGCGGCAGGACGCTCGCTCTCTCAGCCAGCATGCACCACCCCCCGTCGGCCATGGTGCCTGCCCGCCCCAGGCCCCGCCAAGGCAGCGTGCATGGCCTGCATCAGTGTGCCACCGTCCAGGGGTCCAGCTGCGGCCGCCTGCCCACTCTGGAACAATGGAGAGGCATGTTGGGGTGTCTTGGGGGGATTAGGGACGGGGGCTGGGGACGAAACTCCAGGGGAAGGAAGGGAGGGGAAGAGAGGTTCTTGGTGCTCCTTGGAAGGTCTCGAATCCCCAAGGCCCTAGGTCAGAGATCAGCTTCAGGTGTGCGTGGCAGGGGCGGGGACCCGGGACCTCGCCTGCTTTCGGGGGCTAAAGCCCCTCTCTGCAAGGCGCCTGCCCCAGCCTGGGCATGGGGGCCGCTCTGGGTGGGCAGAAGTGGGAAGCATGGGTTTTGACTCCCTGAAGAAGCGTGTTTGTTTCCAATTTGGTACCTGGGAGACCAGGTGCAAGGGGACCTGGGCGCTCCCCTCCCCCTCCCCCCGGCATGTCGGCCATAATGGAGTCTCAAAACACGAAGACACTCATCAGAAAGGACGGACACAGTGTGCTGCTTAGAATCAAGGGATGGTCATGATCAGTTGACTCGAGAAAAGAAAAAAAAGAATCAAAAACAAAAAAGAAGAGAAACGTTGGAAAAAGAGAGTCGGCCGGGTGTTTCTGGTCAGCACTAAAAAAAAAGAAGAAGAAGAAAAAAAAACCCAGTGCCTGGACGTCGGTGGTCGGCAAGGGTAGTCTACCTTGTAAGCCACTCTGGCCGGACACTTCTTCCCCAGACCCAGGGGCGGAGACATGTGTCTCAGCATCTGATACATGTCCAGGTAAGGCATGCGGCCCCTGGCAGCACCGAAAATGAAAAAAACAAAAACAAAAACAAAAAAACAAAACGGGAATGGGAACAGAGAACCAAAGGAAGAGAGGTGGGGAGAAACAGAAGAAAGAAAAAAGAAATCCACACGAGCCGAAAAAATAGAGAGAGAAAGATGCAGAGAATGATAAAATAGATATTTCAAATCAATGGAAAAGAGGAGGAAAAAAAATGGAAGAAAAGGTCAGTAAAAAAAGATTACTTCACTGCTCGGGAGCAGGGAGAGAGAGAGAAAAGAGAAAAGTCAGATTCAGCGTGGGCTCTGAGCTACAGTTCTGGAGGGATGCGGAGGGGAGGGAGAATTCTCACTTTGGAAGACGTAGAGCCATGCTTTTGTTCATTGCCTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAGACAGGGTCTCTCTCTGTCGCCTGGGTTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCTGGCTAATTTTTTATAGAGAAGGGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGAGCAAGCAAAGATGGCTGAAGGCTGAAGGGAAGGAGGAAATATGTTCCATGCTTTATCGAGTCTACATGACTGCATTCTGTTGGCTAAGAGAGTTTTCTAGTTTAATGCAAGAAAGAGAGATGGCTCTGTTTTTTTAGAGAGAGAGAGAGATATATATATATATATATATGAAATATATATATTGAAGAACCCCAAGCCACACTCATTCCATGGATGCTAGCAGGTTTTAGTGGAAGTCAAACCTTGCAAGCAACCCTATGAGGACATTTCTTGCCTAAGCCGAGAGGGGGAGATATTACTCGTAATAAACTGTACATATCCTTATAATGAATCCGACCGCTGAAAGGAGAAGAAAGGGGGTTAGTGCAGGCAATGGGTTCACACGGGCTCCCTGGGCACACAGCGAGGTCATGATGCCCGAGGCTGGGGTGTCCCTGGCTTGAAGGAGTGGGAGAGACTGGGGACAAGTGAAGGTCCCCAGTACATTCCCAGACACTGGGGAGACCCAGGGGTGTAGGATGTCAGTCGAGTTCGGGACTGCAGGGCACCTCCCCTGGGGCTCTCTCTGCATCTGCCTCCTCCACAGTCTACATGGGCTACAGGGGTGGGGGGGGGCTTGTGGAATAGAGGCCTTGGGGACAGCATCCAATTGCTGTGACCTAAAATCAAAAGAGGAAGAGTTAGGAACCAGCCAAAGCCCAGCCCCAGACCCACGGCTCTCCCCAGCCTCTCGGTCTCATGGAGTACTTGTTTGAGGCTATGGGAATAGCCAAGACCACCTCCTGCCCACCTTCCTCGTGACGGCCTCCTCTCTGGTGCTGAGGCCAGAGGAAGATGGGGCTTAGGCTGCTGAGGGCCCCCCAGTAATGCTTCTTCAGGCCCCAAGACCAGCCTGAACTAAATCCTCAGTTAGTGGCTGGTGGGTTCCAGGTATTCAGATAAAGCCTCTGAGTGTCCNNN
|
benign
| 299,883 |
Variant at chromosome 19, position 13228737, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2', 'Inborn_genetic_diseases']
|
CCCGTCGGCCATGGTGCCTGCCCGCCCCAGGCCCCGCCAAGGCAGCGTGCATGGCCTGCATCAGTGTGCCACCGTCCAGGGGTCCAGCTGCGGCCGCCTGCCCACTCTGGAACAATGGAGAGGCATGTTGGGGTGTCTTGGGGGGATTAGGGACGGGGGCTGGGGACGAAACTCCAGGGGAAGGAAGGGAGGGGAAGAGAGGTTCTTGGTGCTCCTTGGAAGGTCTCGAATCCCCAAGGCCCTAGGTCAGAGATCAGCTTCAGGTGTGCGTGGCAGGGGCGGGGACCCGGGACCTCGCCTGCTTTCGGGGGCTAAAGCCCCTCTCTGCAAGGCGCCTGCCCCAGCCTGGGCATGGGGGCCGCTCTGGGTGGGCAGAAGTGGGAAGCATGGGTTTTGACTCCCTGAAGAAGCGTGTTTGTTTCCAATTTGGTACCTGGGAGACCAGGTGCAAGGGGACCTGGGCGCTCCCCTCCCCCTCCCCCCGGCATGTCGGCCATAATGGAGTCTCAAAACACGAAGACACTCATCAGAAAGGACGGACACAGTGTGCTGCTTAGAATCAAGGGATGGTCATGATCAGTTGACTCGAGAAAAGAAAAAAAAGAATCAAAAACAAAAAAGAAGAGAAACGTTGGAAAAAGAGAGTCGGCCGGGTGTTTCTGGTCAGCACTAAAAAAAAAGAAGAAGAAGAAGAAAAAAAAACCCAGTGCCTGGACGTCGGTGGTCGGCAAGGGTAGTCTACCTTGTAAGCCACTCTGGCCGGACACTTCTTCCCCAGACCCAGGGGCGGAGACATGTGTCTCAGCATCTGATACATGTCCAGGTAAGGCATGCGGCCCCTGGCAGCACCGAAAATGAAAAAAACAAAAACAAAAACAAAAAAACAAAACGGGAATGGGAACAGAGAACCAAAGGAAGAGAGGTGGGGAGAAACAGAAGAAAGAAAAAAGAAATCCACACGAGCCGAAAAAATAGAGAGAGAAAGATGCAGAGAATGATAAAATAGATATTTCAAATCAATGGAAAAGAGGAGGAAAAAAAATGGAAGAAAAGGTCAGTAAAAAAAGATTACTTCACTGCTCGGGAGCAGGGAGAGAGAGAGAAAAGAGAAAAGTCAGATTCAGCGTGGGCTCTGAGCTACAGTTCTGGAGGGATGCGGAGGGGAGGGAGAATTCTCACTTTGGAAGACGTAGAGCCATGCTTTTGTTCATTGCCTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAGACAGGGTCTCTCTCTGTCGCCTGGGTTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCTGGCTAATTTTTTATAGAGAAGGGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGAGCAAGCAAAGATGGCTGAAGGCTGAAGGGAAGGAGGAAATATGTTCCATGCTTTATCGAGTCTACATGACTGCATTCTGTTGGCTAAGAGAGTTTTCTAGTTTAATGCAAGAAAGAGAGATGGCTCTGTTTTTTTAGAGAGAGAGAGAGATATATATATATATATATATGAAATATATATATTGAAGAACCCCAAGCCACACTCATTCCATGGATGCTAGCAGGTTTTAGTGGAAGTCAAACCTTGCAAGCAACCCTATGAGGACATTTCTTGCCTAAGCCGAGAGGGGGAGATATTACTCGTAATAAACTGTACATATCCTTATAATGAATCCGACCGCTGAAAGGAGAAGAAAGGGGGTTAGTGCAGGCAATGGGTTCACACGGGCTCCCTGGGCACACAGCGAGGTCATGATGCCCGAGGCTGGGGTGTCCCTGGCTTGAAGGAGTGGGAGAGACTGGGGACAAGTGAAGGTCCCCAGTACATTCCCAGACACTGGGGAGACCCAGGGGTGTAGGATGTCAGTCGAGTTCGGGACTGCAGGGCACCTCCCCTGGGGCTCTCTCTGCATCTGCCTCCTCCACAGTCTACATGGGCTACAGGGGTGGGGGGGGGCTTGTGGAATAGAGGCCTTGGGGACAGCATCCAATTGCTGTGACCTAAAATCAAAAGAGGAAGAGTTAGGAACCAGCCAAAGCCCAGCCCCAGACCCACGGCTCTCCCCAGCCTCTCGGTCTCATGGAGTACTTGTTTGAGGCTATGGGAATAGCCAAGACCACCTCCTGCCCACCTTCCTCGTGACGGCCTCCTCTCTGGTGCTGAGGCCAGAGGAAGATGGGGCTTAGGCTGCTGAGGGCCCCCCAGTAATGCTTCTTCAGGCCCCAAGACCAGCCTGAACTAAATCCTCAGTTAGTGGCTGGTGGGTTCCAGGTATTCAGATAAAGCCTCTGAGTGTCCTTCAAGGCTTGGTGTTGGGTGGGCACTCAATACACGTGCACAAGGTGGAACCCACCCTCTGAAACCATTGCCCGTCAGTGGAGAGGGACCCCTCTGGTGTCTACCCAGATGGGAGCGCCCACTCCCTTTGTGGCCACAAAGATGCATGGGCCCCTGAGGCTCTGCGTCCTCCCCTGGCCTGTATGTCCTCTCACTCCCAGGTTCACGGGTCCCAGTGGGAGCTGAGTTCTGCTACTCTGATGTTGCTGCCAATCCTGTCTGCCAAGGGTAGGCCAGCCCTCCTCCCCACACTCTCAAGAGAACTGAGGCTGGGATGCTGTTGGTTTTCTCCCTGGAGCCTGGCTAATGCATCCTCACCATCTGGAGACTTCACAGTGAGAGACAGGAGAGACTCGTAGGAGGAGAGGGCTCTTCAGGACATCTCATGGTTGACGCCCTCCCTCATTTCCCAGAAAGTCCAGGGTTTGGGCAGGGTTGGCACCCTACGTGTTTAATCTGGGGTATGCAAGGGTGATGATTCTTATATCTTCTCTCCTGACTGAACCTGTGAGACCCCTGCTAGGACCCCAGGAGTTCAGTGCTCCAGAGTCTGGGGCCTGACCTAGCCCGTGTTCCAGTTCCAGGGAGAGGTGAGTATTGTGGCTGGAGGATTCGGGGTGACTTCTTACCAAGCTGCGGGGTCATACTCGGCCCAGACACGCACGTACTCATCCAGGTGGTGGGGGCCCAGGATGGAGGAGTCTCGGGTGAGGTACTCAAAGTTGTCCATGATGACGGCGACAAAGAGATTCAGCATCTGTGGGGACCCCGGGGACCAAGAGAGAATGGGGGCAGAGACCGAGGGAATGAATGAGTGAGTGAGAAGGATACAGACAGACAGACGGACAGACAGACCCAAAGACATGTACACAGAGGCCCAGATGGAGAGAGGGATAGAGAGAAGATGGGGAAAGGAAATGAGACAGAGACAGAAAGAGACTGGGGAATGGAGAGGTGATGCTCACTCACACAAGGAGGTCCAGTGAGAGAGAGATCAAGTGGAGAGATGGGGAAGAGGAAGAGAGAAACAGAGAGAGATGGAGAGAGAGAGATACAAAGAGACAAAGACTGGCCGGGCACGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGACAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCACCTGTAATCCCAGCTACTTGGGAGGTTGAAGCTGAAGAATCGGTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGGTCTCGCCACTGCACTTTAGCCTGGG
|
CCCGTCGGCCATGGTGCCTGCCCGCCCCAGGCCCCGCCAAGGCAGCGTGCATGGCCTGCATCAGTGTGCCACCGTCCAGGGGTCCAGCTGCGGCCGCCTGCCCACTCTGGAACAATGGAGAGGCATGTTGGGGTGTCTTGGGGGGATTAGGGACGGGGGCTGGGGACGAAACTCCAGGGGAAGGAAGGGAGGGGAAGAGAGGTTCTTGGTGCTCCTTGGAAGGTCTCGAATCCCCAAGGCCCTAGGTCAGAGATCAGCTTCAGGTGTGCGTGGCAGGGGCGGGGACCCGGGACCTCGCCTGCTTTCGGGGGCTAAAGCCCCTCTCTGCAAGGCGCCTGCCCCAGCCTGGGCATGGGGGCCGCTCTGGGTGGGCAGAAGTGGGAAGCATGGGTTTTGACTCCCTGAAGAAGCGTGTTTGTTTCCAATTTGGTACCTGGGAGACCAGGTGCAAGGGGACCTGGGCGCTCCCCTCCCCCTCCCCCCGGCATGTCGGCCATAATGGAGTCTCAAAACACGAAGACACTCATCAGAAAGGACGGACACAGTGTGCTGCTTAGAATCAAGGGATGGTCATGATCAGTTGACTCGAGAAAAGAAAAAAAAGAATCAAAAACAAAAAAGAAGAGAAACGTTGGAAAAAGAGAGTCGGCCGGGTGTTTCTGGTCAGCACTAAAAAAAAAGAAGAAGAAGAAGAAAAAAAAACCCAGTGCCTGGACGTCGGTGGTCGGCAAGGGTAGTCTACCTTGTAAGCCACTCTGGCCGGACACTTCTTCCCCAGACCCAGGGGCGGAGACATGTGTCTCAGCATCTGATACATGTCCAGGTAAGGCATGCGGCCCCTGGCAGCACCGAAAATGAAAAAAACAAAAACAAAAACAAAAAAACAAAACGGGAATGGGAACAGAGAACCAAAGGAAGAGAGGTGGGGAGAAACAGAAGAAAGAAAAAAGAAATCCACACGAGCCGAAAAAATAGAGAGAGAAAGATGCAGAGAATGATAAAATAGATATTTCAAATCAATGGAAAAGAGGAGGAAAAAAAATGGAAGAAAAGGTCAGTAAAAAAAGATTACTTCACTGCTCGGGAGCAGGGAGAGAGAGAGAAAAGAGAAAAGTCAGATTCAGCGTGGGCTCTGAGCTACAGTTCTGGAGGGATGCGGAGGGGAGGGAGAATTCTCACTTTGGAAGACGTAGAGCCATGCTTTTGTTCATTGCCTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAGACAGGGTCTCTCTCTGTCGCCTGGGTTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCTGGCTAATTTTTTATAGAGAAGGGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGAGCAAGCAAAGATGGCTGAAGGCTGAAGGGAAGGAGGAAATATGTTCCATGCTTTATCGAGTCTACATGACTGCATTCTGTTGGCTAAGAGAGTTTTCTAGTTTAATGCAAGAAAGAGAGATGGCTCTGTTTTTTTAGAGAGAGAGAGAGATATATATATATATATATATGAAATATATATATTGAAGAACCCCAAGCCACACTCATTCCATGGATGCTAGCAGGTTTTAGTGGAAGTCAAACCTTGCAAGCAACCCTATGAGGACATTTCTTGCCTAAGCCGAGGGGGAGATATTACTCGTAATAAACTGTACATATCCTTATAATGAATCCGACCGCTGAAAGGAGAAGAAAGGGGGTTAGTGCAGGCAATGGGTTCACACGGGCTCCCTGGGCACACAGCGAGGTCATGATGCCCGAGGCTGGGGTGTCCCTGGCTTGAAGGAGTGGGAGAGACTGGGGACAAGTGAAGGTCCCCAGTACATTCCCAGACACTGGGGAGACCCAGGGGTGTAGGATGTCAGTCGAGTTCGGGACTGCAGGGCACCTCCCCTGGGGCTCTCTCTGCATCTGCCTCCTCCACAGTCTACATGGGCTACAGGGGTGGGGGGGGGCTTGTGGAATAGAGGCCTTGGGGACAGCATCCAATTGCTGTGACCTAAAATCAAAAGAGGAAGAGTTAGGAACCAGCCAAAGCCCAGCCCCAGACCCACGGCTCTCCCCAGCCTCTCGGTCTCATGGAGTACTTGTTTGAGGCTATGGGAATAGCCAAGACCACCTCCTGCCCACCTTCCTCGTGACGGCCTCCTCTCTGGTGCTGAGGCCAGAGGAAGATGGGGCTTAGGCTGCTGAGGGCCCCCCAGTAATGCTTCTTCAGGCCCCAAGACCAGCCTGAACTAAATCCTCAGTTAGTGGCTGGTGGGTTCCAGGTATTCAGATAAAGCCTCTGAGTGTCCTTCAAGGCTTGGTGTTGGGTGGGCACTCAATACACGTGCACAAGGTGGAACCCACCCTCTGAAACCATTGCCCGTCAGTGGAGAGGGACCCCTCTGGTGTCTACCCAGATGGGAGCGCCCACTCCCTTTGTGGCCACAAAGATGCATGGGCCCCTGAGGCTCTGCGTCCTCCCCTGGCCTGTATGTCCTCTCACTCCCAGGTTCACGGGTCCCAGTGGGAGCTGAGTTCTGCTACTCTGATGTTGCTGCCAATCCTGTCTGCCAAGGGTAGGCCAGCCCTCCTCCCCACACTCTCAAGAGAACTGAGGCTGGGATGCTGTTGGTTTTCTCCCTGGAGCCTGGCTAATGCATCCTCACCATCTGGAGACTTCACAGTGAGAGACAGGAGAGACTCGTAGGAGGAGAGGGCTCTTCAGGACATCTCATGGTTGACGCCCTCCCTCATTTCCCAGAAAGTCCAGGGTTTGGGCAGGGTTGGCACCCTACGTGTTTAATCTGGGGTATGCAAGGGTGATGATTCTTATATCTTCTCTCCTGACTGAACCTGTGAGACCCCTGCTAGGACCCCAGGAGTTCAGTGCTCCAGAGTCTGGGGCCTGACCTAGCCCGTGTTCCAGTTCCAGGGAGAGGTGAGTATTGTGGCTGGAGGATTCGGGGTGACTTCTTACCAAGCTGCGGGGTCATACTCGGCCCAGACACGCACGTACTCATCCAGGTGGTGGGGGCCCAGGATGGAGGAGTCTCGGGTGAGGTACTCAAAGTTGTCCATGATGACGGCGACAAAGAGATTCAGCATCTGTGGGGACCCCGGGGACCAAGAGAGAATGGGGGCAGAGACCGAGGGAATGAATGAGTGAGTGAGAAGGATACAGACAGACAGACGGACAGACAGACCCAAAGACATGTACACAGAGGCCCAGATGGAGAGAGGGATAGAGAGAAGATGGGGAAAGGAAATGAGACAGAGACAGAAAGAGACTGGGGAATGGAGAGGTGATGCTCACTCACACAAGGAGGTCCAGTGAGAGAGAGATCAAGTGGAGAGATGGGGAAGAGGAAGAGAGAAACAGAGAGAGATGGAGAGAGAGAGATACAAAGAGACAAAGACTGGCCGGGCACGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGACAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCACCTGTAATCCCAGCTACTTGGGAGGTTGAAGCTGAAGAATCGGTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGGTCTCGCCACTGCACTTTAGCCTGGGNN
|
pathogenic
| 299,887 |
Is chromosome 19, position 13228766, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Cerebellar_ataxia', 'Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
GGCCCCGCCAAGGCAGCGTGCATGGCCTGCATCAGTGTGCCACCGTCCAGGGGTCCAGCTGCGGCCGCCTGCCCACTCTGGAACAATGGAGAGGCATGTTGGGGTGTCTTGGGGGGATTAGGGACGGGGGCTGGGGACGAAACTCCAGGGGAAGGAAGGGAGGGGAAGAGAGGTTCTTGGTGCTCCTTGGAAGGTCTCGAATCCCCAAGGCCCTAGGTCAGAGATCAGCTTCAGGTGTGCGTGGCAGGGGCGGGGACCCGGGACCTCGCCTGCTTTCGGGGGCTAAAGCCCCTCTCTGCAAGGCGCCTGCCCCAGCCTGGGCATGGGGGCCGCTCTGGGTGGGCAGAAGTGGGAAGCATGGGTTTTGACTCCCTGAAGAAGCGTGTTTGTTTCCAATTTGGTACCTGGGAGACCAGGTGCAAGGGGACCTGGGCGCTCCCCTCCCCCTCCCCCCGGCATGTCGGCCATAATGGAGTCTCAAAACACGAAGACACTCATCAGAAAGGACGGACACAGTGTGCTGCTTAGAATCAAGGGATGGTCATGATCAGTTGACTCGAGAAAAGAAAAAAAAGAATCAAAAACAAAAAAGAAGAGAAACGTTGGAAAAAGAGAGTCGGCCGGGTGTTTCTGGTCAGCACTAAAAAAAAAGAAGAAGAAGAAGAAAAAAAAACCCAGTGCCTGGACGTCGGTGGTCGGCAAGGGTAGTCTACCTTGTAAGCCACTCTGGCCGGACACTTCTTCCCCAGACCCAGGGGCGGAGACATGTGTCTCAGCATCTGATACATGTCCAGGTAAGGCATGCGGCCCCTGGCAGCACCGAAAATGAAAAAAACAAAAACAAAAACAAAAAAACAAAACGGGAATGGGAACAGAGAACCAAAGGAAGAGAGGTGGGGAGAAACAGAAGAAAGAAAAAAGAAATCCACACGAGCCGAAAAAATAGAGAGAGAAAGATGCAGAGAATGATAAAATAGATATTTCAAATCAATGGAAAAGAGGAGGAAAAAAAATGGAAGAAAAGGTCAGTAAAAAAAGATTACTTCACTGCTCGGGAGCAGGGAGAGAGAGAGAAAAGAGAAAAGTCAGATTCAGCGTGGGCTCTGAGCTACAGTTCTGGAGGGATGCGGAGGGGAGGGAGAATTCTCACTTTGGAAGACGTAGAGCCATGCTTTTGTTCATTGCCTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAGACAGGGTCTCTCTCTGTCGCCTGGGTTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCTGGCTAATTTTTTATAGAGAAGGGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGAGCAAGCAAAGATGGCTGAAGGCTGAAGGGAAGGAGGAAATATGTTCCATGCTTTATCGAGTCTACATGACTGCATTCTGTTGGCTAAGAGAGTTTTCTAGTTTAATGCAAGAAAGAGAGATGGCTCTGTTTTTTTAGAGAGAGAGAGAGATATATATATATATATATATGAAATATATATATTGAAGAACCCCAAGCCACACTCATTCCATGGATGCTAGCAGGTTTTAGTGGAAGTCAAACCTTGCAAGCAACCCTATGAGGACATTTCTTGCCTAAGCCGAGAGGGGGAGATATTACTCGTAATAAACTGTACATATCCTTATAATGAATCCGACCGCTGAAAGGAGAAGAAAGGGGGTTAGTGCAGGCAATGGGTTCACACGGGCTCCCTGGGCACACAGCGAGGTCATGATGCCCGAGGCTGGGGTGTCCCTGGCTTGAAGGAGTGGGAGAGACTGGGGACAAGTGAAGGTCCCCAGTACATTCCCAGACACTGGGGAGACCCAGGGGTGTAGGATGTCAGTCGAGTTCGGGACTGCAGGGCACCTCCCCTGGGGCTCTCTCTGCATCTGCCTCCTCCACAGTCTACATGGGCTACAGGGGTGGGGGGGGGCTTGTGGAATAGAGGCCTTGGGGACAGCATCCAATTGCTGTGACCTAAAATCAAAAGAGGAAGAGTTAGGAACCAGCCAAAGCCCAGCCCCAGACCCACGGCTCTCCCCAGCCTCTCGGTCTCATGGAGTACTTGTTTGAGGCTATGGGAATAGCCAAGACCACCTCCTGCCCACCTTCCTCGTGACGGCCTCCTCTCTGGTGCTGAGGCCAGAGGAAGATGGGGCTTAGGCTGCTGAGGGCCCCCCAGTAATGCTTCTTCAGGCCCCAAGACCAGCCTGAACTAAATCCTCAGTTAGTGGCTGGTGGGTTCCAGGTATTCAGATAAAGCCTCTGAGTGTCCTTCAAGGCTTGGTGTTGGGTGGGCACTCAATACACGTGCACAAGGTGGAACCCACCCTCTGAAACCATTGCCCGTCAGTGGAGAGGGACCCCTCTGGTGTCTACCCAGATGGGAGCGCCCACTCCCTTTGTGGCCACAAAGATGCATGGGCCCCTGAGGCTCTGCGTCCTCCCCTGGCCTGTATGTCCTCTCACTCCCAGGTTCACGGGTCCCAGTGGGAGCTGAGTTCTGCTACTCTGATGTTGCTGCCAATCCTGTCTGCCAAGGGTAGGCCAGCCCTCCTCCCCACACTCTCAAGAGAACTGAGGCTGGGATGCTGTTGGTTTTCTCCCTGGAGCCTGGCTAATGCATCCTCACCATCTGGAGACTTCACAGTGAGAGACAGGAGAGACTCGTAGGAGGAGAGGGCTCTTCAGGACATCTCATGGTTGACGCCCTCCCTCATTTCCCAGAAAGTCCAGGGTTTGGGCAGGGTTGGCACCCTACGTGTTTAATCTGGGGTATGCAAGGGTGATGATTCTTATATCTTCTCTCCTGACTGAACCTGTGAGACCCCTGCTAGGACCCCAGGAGTTCAGTGCTCCAGAGTCTGGGGCCTGACCTAGCCCGTGTTCCAGTTCCAGGGAGAGGTGAGTATTGTGGCTGGAGGATTCGGGGTGACTTCTTACCAAGCTGCGGGGTCATACTCGGCCCAGACACGCACGTACTCATCCAGGTGGTGGGGGCCCAGGATGGAGGAGTCTCGGGTGAGGTACTCAAAGTTGTCCATGATGACGGCGACAAAGAGATTCAGCATCTGTGGGGACCCCGGGGACCAAGAGAGAATGGGGGCAGAGACCGAGGGAATGAATGAGTGAGTGAGAAGGATACAGACAGACAGACGGACAGACAGACCCAAAGACATGTACACAGAGGCCCAGATGGAGAGAGGGATAGAGAGAAGATGGGGAAAGGAAATGAGACAGAGACAGAAAGAGACTGGGGAATGGAGAGGTGATGCTCACTCACACAAGGAGGTCCAGTGAGAGAGAGATCAAGTGGAGAGATGGGGAAGAGGAAGAGAGAAACAGAGAGAGATGGAGAGAGAGAGATACAAAGAGACAAAGACTGGCCGGGCACGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGACAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCACCTGTAATCCCAGCTACTTGGGAGGTTGAAGCTGAAGAATCGGTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGGTCTCGCCACTGCACTTTAGCCTGGGCAACAGAGTGAGACTCCATTTCAAAGAAA
|
GGCCCCGCCAAGGCAGCGTGCATGGCCTGCATCAGTGTGCCACCGTCCAGGGGTCCAGCTGCGGCCGCCTGCCCACTCTGGAACAATGGAGAGGCATGTTGGGGTGTCTTGGGGGGATTAGGGACGGGGGCTGGGGACGAAACTCCAGGGGAAGGAAGGGAGGGGAAGAGAGGTTCTTGGTGCTCCTTGGAAGGTCTCGAATCCCCAAGGCCCTAGGTCAGAGATCAGCTTCAGGTGTGCGTGGCAGGGGCGGGGACCCGGGACCTCGCCTGCTTTCGGGGGCTAAAGCCCCTCTCTGCAAGGCGCCTGCCCCAGCCTGGGCATGGGGGCCGCTCTGGGTGGGCAGAAGTGGGAAGCATGGGTTTTGACTCCCTGAAGAAGCGTGTTTGTTTCCAATTTGGTACCTGGGAGACCAGGTGCAAGGGGACCTGGGCGCTCCCCTCCCCCTCCCCCCGGCATGTCGGCCATAATGGAGTCTCAAAACACGAAGACACTCATCAGAAAGGACGGACACAGTGTGCTGCTTAGAATCAAGGGATGGTCATGATCAGTTGACTCGAGAAAAGAAAAAAAAGAATCAAAAACAAAAAAGAAGAGAAACGTTGGAAAAAGAGAGTCGGCCGGGTGTTTCTGGTCAGCACTAAAAAAAAAGAAGAAGAAGAAGAAAAAAAAACCCAGTGCCTGGACGTCGGTGGTCGGCAAGGGTAGTCTACCTTGTAAGCCACTCTGGCCGGACACTTCTTCCCCAGACCCAGGGGCGGAGACATGTGTCTCAGCATCTGATACATGTCCAGGTAAGGCATGCGGCCCCTGGCAGCACCGAAAATGAAAAAAACAAAAACAAAAACAAAAAAACAAAACGGGAATGGGAACAGAGAACCAAAGGAAGAGAGGTGGGGAGAAACAGAAGAAAGAAAAAAGAAATCCACACGAGCCGAAAAAATAGAGAGAGAAAGATGCAGAGAATGATAAAATAGATATTTCAAATCAATGGAAAAGAGGAGGAAAAAAAATGGAAGAAAAGGTCAGTAAAAAAAGATTACTTCACTGCTCGGGAGCAGGGAGAGAGAGAGAAAAGAGAAAAGTCAGATTCAGCGTGGGCTCTGAGCTACAGTTCTGGAGGGATGCGGAGGGGAGGGAGAATTCTCACTTTGGAAGACGTAGAGCCATGCTTTTGTTCATTGCCTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAGACAGGGTCTCTCTCTGTCGCCTGGGTTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCTGGCTAATTTTTTATAGAGAAGGGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGAGCAAGCAAAGATGGCTGAAGGCTGAAGGGAAGGAGGAAATATGTTCCATGCTTTATCGAGTCTACATGACTGCATTCTGTTGGCTAAGAGAGTTTTCTAGTTTAATGCAAGAAAGAGAGATGGCTCTGTTTTTTTAGAGAGAGAGAGAGATATATATATATATATATATGAAATATATATATTGAAGAACCCCAAGCCACACTCATTCCATGGATGCTAGCAGGTTTTAGTGGAAGTCAAACCTTGCAAGCAACCCTATGAGGACATTTCTTGCCTAAGCCGAGAGGGGGAGATATTACTCGTAATAAACTACATATCCTTATAATGAATCCGACCGCTGAAAGGAGAAGAAAGGGGGTTAGTGCAGGCAATGGGTTCACACGGGCTCCCTGGGCACACAGCGAGGTCATGATGCCCGAGGCTGGGGTGTCCCTGGCTTGAAGGAGTGGGAGAGACTGGGGACAAGTGAAGGTCCCCAGTACATTCCCAGACACTGGGGAGACCCAGGGGTGTAGGATGTCAGTCGAGTTCGGGACTGCAGGGCACCTCCCCTGGGGCTCTCTCTGCATCTGCCTCCTCCACAGTCTACATGGGCTACAGGGGTGGGGGGGGGCTTGTGGAATAGAGGCCTTGGGGACAGCATCCAATTGCTGTGACCTAAAATCAAAAGAGGAAGAGTTAGGAACCAGCCAAAGCCCAGCCCCAGACCCACGGCTCTCCCCAGCCTCTCGGTCTCATGGAGTACTTGTTTGAGGCTATGGGAATAGCCAAGACCACCTCCTGCCCACCTTCCTCGTGACGGCCTCCTCTCTGGTGCTGAGGCCAGAGGAAGATGGGGCTTAGGCTGCTGAGGGCCCCCCAGTAATGCTTCTTCAGGCCCCAAGACCAGCCTGAACTAAATCCTCAGTTAGTGGCTGGTGGGTTCCAGGTATTCAGATAAAGCCTCTGAGTGTCCTTCAAGGCTTGGTGTTGGGTGGGCACTCAATACACGTGCACAAGGTGGAACCCACCCTCTGAAACCATTGCCCGTCAGTGGAGAGGGACCCCTCTGGTGTCTACCCAGATGGGAGCGCCCACTCCCTTTGTGGCCACAAAGATGCATGGGCCCCTGAGGCTCTGCGTCCTCCCCTGGCCTGTATGTCCTCTCACTCCCAGGTTCACGGGTCCCAGTGGGAGCTGAGTTCTGCTACTCTGATGTTGCTGCCAATCCTGTCTGCCAAGGGTAGGCCAGCCCTCCTCCCCACACTCTCAAGAGAACTGAGGCTGGGATGCTGTTGGTTTTCTCCCTGGAGCCTGGCTAATGCATCCTCACCATCTGGAGACTTCACAGTGAGAGACAGGAGAGACTCGTAGGAGGAGAGGGCTCTTCAGGACATCTCATGGTTGACGCCCTCCCTCATTTCCCAGAAAGTCCAGGGTTTGGGCAGGGTTGGCACCCTACGTGTTTAATCTGGGGTATGCAAGGGTGATGATTCTTATATCTTCTCTCCTGACTGAACCTGTGAGACCCCTGCTAGGACCCCAGGAGTTCAGTGCTCCAGAGTCTGGGGCCTGACCTAGCCCGTGTTCCAGTTCCAGGGAGAGGTGAGTATTGTGGCTGGAGGATTCGGGGTGACTTCTTACCAAGCTGCGGGGTCATACTCGGCCCAGACACGCACGTACTCATCCAGGTGGTGGGGGCCCAGGATGGAGGAGTCTCGGGTGAGGTACTCAAAGTTGTCCATGATGACGGCGACAAAGAGATTCAGCATCTGTGGGGACCCCGGGGACCAAGAGAGAATGGGGGCAGAGACCGAGGGAATGAATGAGTGAGTGAGAAGGATACAGACAGACAGACGGACAGACAGACCCAAAGACATGTACACAGAGGCCCAGATGGAGAGAGGGATAGAGAGAAGATGGGGAAAGGAAATGAGACAGAGACAGAAAGAGACTGGGGAATGGAGAGGTGATGCTCACTCACACAAGGAGGTCCAGTGAGAGAGAGATCAAGTGGAGAGATGGGGAAGAGGAAGAGAGAAACAGAGAGAGATGGAGAGAGAGAGATACAAAGAGACAAAGACTGGCCGGGCACGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGACAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCACCTGTAATCCCAGCTACTTGGGAGGTTGAAGCTGAAGAATCGGTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGGTCTCGCCACTGCACTTTAGCCTGGGCAACAGAGTGAGACTCCATTTCAAAGAAANN
|
pathogenic
| 299,889 |
A genetic variant at chromosome 19, position 13230132, affecting gene CACNA1A (calcium voltage-gated channel subunit alpha1 A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
TTTATAGAGAAGGGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGAGCAAGCAAAGATGGCTGAAGGCTGAAGGGAAGGAGGAAATATGTTCCATGCTTTATCGAGTCTACATGACTGCATTCTGTTGGCTAAGAGAGTTTTCTAGTTTAATGCAAGAAAGAGAGATGGCTCTGTTTTTTTAGAGAGAGAGAGAGATATATATATATATATATATGAAATATATATATTGAAGAACCCCAAGCCACACTCATTCCATGGATGCTAGCAGGTTTTAGTGGAAGTCAAACCTTGCAAGCAACCCTATGAGGACATTTCTTGCCTAAGCCGAGAGGGGGAGATATTACTCGTAATAAACTGTACATATCCTTATAATGAATCCGACCGCTGAAAGGAGAAGAAAGGGGGTTAGTGCAGGCAATGGGTTCACACGGGCTCCCTGGGCACACAGCGAGGTCATGATGCCCGAGGCTGGGGTGTCCCTGGCTTGAAGGAGTGGGAGAGACTGGGGACAAGTGAAGGTCCCCAGTACATTCCCAGACACTGGGGAGACCCAGGGGTGTAGGATGTCAGTCGAGTTCGGGACTGCAGGGCACCTCCCCTGGGGCTCTCTCTGCATCTGCCTCCTCCACAGTCTACATGGGCTACAGGGGTGGGGGGGGGCTTGTGGAATAGAGGCCTTGGGGACAGCATCCAATTGCTGTGACCTAAAATCAAAAGAGGAAGAGTTAGGAACCAGCCAAAGCCCAGCCCCAGACCCACGGCTCTCCCCAGCCTCTCGGTCTCATGGAGTACTTGTTTGAGGCTATGGGAATAGCCAAGACCACCTCCTGCCCACCTTCCTCGTGACGGCCTCCTCTCTGGTGCTGAGGCCAGAGGAAGATGGGGCTTAGGCTGCTGAGGGCCCCCCAGTAATGCTTCTTCAGGCCCCAAGACCAGCCTGAACTAAATCCTCAGTTAGTGGCTGGTGGGTTCCAGGTATTCAGATAAAGCCTCTGAGTGTCCTTCAAGGCTTGGTGTTGGGTGGGCACTCAATACACGTGCACAAGGTGGAACCCACCCTCTGAAACCATTGCCCGTCAGTGGAGAGGGACCCCTCTGGTGTCTACCCAGATGGGAGCGCCCACTCCCTTTGTGGCCACAAAGATGCATGGGCCCCTGAGGCTCTGCGTCCTCCCCTGGCCTGTATGTCCTCTCACTCCCAGGTTCACGGGTCCCAGTGGGAGCTGAGTTCTGCTACTCTGATGTTGCTGCCAATCCTGTCTGCCAAGGGTAGGCCAGCCCTCCTCCCCACACTCTCAAGAGAACTGAGGCTGGGATGCTGTTGGTTTTCTCCCTGGAGCCTGGCTAATGCATCCTCACCATCTGGAGACTTCACAGTGAGAGACAGGAGAGACTCGTAGGAGGAGAGGGCTCTTCAGGACATCTCATGGTTGACGCCCTCCCTCATTTCCCAGAAAGTCCAGGGTTTGGGCAGGGTTGGCACCCTACGTGTTTAATCTGGGGTATGCAAGGGTGATGATTCTTATATCTTCTCTCCTGACTGAACCTGTGAGACCCCTGCTAGGACCCCAGGAGTTCAGTGCTCCAGAGTCTGGGGCCTGACCTAGCCCGTGTTCCAGTTCCAGGGAGAGGTGAGTATTGTGGCTGGAGGATTCGGGGTGACTTCTTACCAAGCTGCGGGGTCATACTCGGCCCAGACACGCACGTACTCATCCAGGTGGTGGGGGCCCAGGATGGAGGAGTCTCGGGTGAGGTACTCAAAGTTGTCCATGATGACGGCGACAAAGAGATTCAGCATCTGTGGGGACCCCGGGGACCAAGAGAGAATGGGGGCAGAGACCGAGGGAATGAATGAGTGAGTGAGAAGGATACAGACAGACAGACGGACAGACAGACCCAAAGACATGTACACAGAGGCCCAGATGGAGAGAGGGATAGAGAGAAGATGGGGAAAGGAAATGAGACAGAGACAGAAAGAGACTGGGGAATGGAGAGGTGATGCTCACTCACACAAGGAGGTCCAGTGAGAGAGAGATCAAGTGGAGAGATGGGGAAGAGGAAGAGAGAAACAGAGAGAGATGGAGAGAGAGAGATACAAAGAGACAAAGACTGGCCGGGCACGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGACAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCACCTGTAATCCCAGCTACTTGGGAGGTTGAAGCTGAAGAATCGGTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGGTCTCGCCACTGCACTTTAGCCTGGGCAACAGAGTGAGACTCCATTTCAAAGAAAAAAAAAAAAGAGAGAGAGAGACAAAGACCAAGAATGATGGAAAGAAACAGAGTCAGTGAGAGGGAGGGGAGGCTTCTGAAACAGGGACCAACACCAAGAGAACCACTGTGACCCCAAATCCTCCCACATCTGCCCCCAACAAGGCCAAAGTGAGGTATTTCTTCCCTCGCAATGTTTTTTTTTTTTTTGTTTGTTTTTGTTTGTTTTTGAGACAGGATCTCATTCTGTCGCCCTGGCTGGGGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCGACCTCCAAGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGCACAGCACCACGTGTGCAGCTAATTCAATTTTTTTTTTTTTTTTTAAAGAGATGGGTTTCACACCATGCTGTCCAGGCTGGTCTTGTATTCCTGGGCTCAAGTGACCCTCCCACCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATCGGCCACTACGCCCAGCTGAAATATTTCATTGAGTCTCAAATGGGGGAATTCTGGCCCCCACTCCCAACCCCACCCCCACCCCCTGGGGGCACCTGGCAATGTCCGGAGACATTTTTGGTTGTCACAACAGGAGGAACGGGTGGCGTGTGCTGCCAGCATCTGGTGGGGGGAGGACAGGGATGCTGCCATACACTGCAGTGCACATGATGGCCCCACCCCAAAGAATCAGCCACCCCCAAATGTCAACAGTGCTGAGTTTGAGACGCTCAGGGTCACCTGATCCCAGGCTGGTTCAGAGAAGCCTTGGAGGGAACAAGCCTTCGACACAGCCACATTCCACAGAAACCCACTCCCCTGAAAGGAAGCCAGGCTTAGGGAGCCCAGACGGCCCTCACAGTGTCCACAGACTCACCAGAAACGAGCAGAGGAAGATGAAGGAAACAAAGTAAAAATAAGCAAATTCATTGCCACACTCTCGAGTCAGGATGCCAGAGTTCTTATCACACGGTTTCCCGCTGAGGCAGGAAAGCATGATGTTGTGCCAAGCTTCCCCGGTGGCACTCCTGAGGACAGGGAGAAATCAGAGACTCGGACACCCAGCCCTGACTGGGTACCAACGCCTCCCCAGGAGGTGGAGCACACACGTTGAGCACTTGGGCTCTGGAGCTGGCCAGGCAAGCCCCAGGTGGACCACCTCCTTTTACTGGGAGCTGAGAGAAGGGAATTCACATTCTTGGCTGTGCACTGAAGTCCACAGAGAGCTTTGAAAAAATACCAATGCCCGTGCCCCACCCCAGCAGACTTGGATTCAGTTGGTCTAGGGTGGGATTTGAGGACACTGATATGTTTTTTTCTTTTCTTTTCCTTCTCTCTCTCTTTCTT
|
TTTATAGAGAAGGGGGTTCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGAGCAAGCAAAGATGGCTGAAGGCTGAAGGGAAGGAGGAAATATGTTCCATGCTTTATCGAGTCTACATGACTGCATTCTGTTGGCTAAGAGAGTTTTCTAGTTTAATGCAAGAAAGAGAGATGGCTCTGTTTTTTTAGAGAGAGAGAGAGATATATATATATATATATATGAAATATATATATTGAAGAACCCCAAGCCACACTCATTCCATGGATGCTAGCAGGTTTTAGTGGAAGTCAAACCTTGCAAGCAACCCTATGAGGACATTTCTTGCCTAAGCCGAGAGGGGGAGATATTACTCGTAATAAACTGTACATATCCTTATAATGAATCCGACCGCTGAAAGGAGAAGAAAGGGGGTTAGTGCAGGCAATGGGTTCACACGGGCTCCCTGGGCACACAGCGAGGTCATGATGCCCGAGGCTGGGGTGTCCCTGGCTTGAAGGAGTGGGAGAGACTGGGGACAAGTGAAGGTCCCCAGTACATTCCCAGACACTGGGGAGACCCAGGGGTGTAGGATGTCAGTCGAGTTCGGGACTGCAGGGCACCTCCCCTGGGGCTCTCTCTGCATCTGCCTCCTCCACAGTCTACATGGGCTACAGGGGTGGGGGGGGGCTTGTGGAATAGAGGCCTTGGGGACAGCATCCAATTGCTGTGACCTAAAATCAAAAGAGGAAGAGTTAGGAACCAGCCAAAGCCCAGCCCCAGACCCACGGCTCTCCCCAGCCTCTCGGTCTCATGGAGTACTTGTTTGAGGCTATGGGAATAGCCAAGACCACCTCCTGCCCACCTTCCTCGTGACGGCCTCCTCTCTGGTGCTGAGGCCAGAGGAAGATGGGGCTTAGGCTGCTGAGGGCCCCCCAGTAATGCTTCTTCAGGCCCCAAGACCAGCCTGAACTAAATCCTCAGTTAGTGGCTGGTGGGTTCCAGGTATTCAGATAAAGCCTCTGAGTGTCCTTCAAGGCTTGGTGTTGGGTGGGCACTCAATACACGTGCACAAGGTGGAACCCACCCTCTGAAACCATTGCCCGTCAGTGGAGAGGGACCCCTCTGGTGTCTACCCAGATGGGAGCGCCCACTCCCTTTGTGGCCACAAAGATGCATGGGCCCCTGAGGCTCTGCGTCCTCCCCTGGCCTGTATGTCCTCTCACTCCCAGGTTCACGGGTCCCAGTGGGAGCTGAGTTCTGCTACTCTGATGTTGCTGCCAATCCTGTCTGCCAAGGGTAGGCCAGCCCTCCTCCCCACACTCTCAAGAGAACTGAGGCTGGGATGCTGTTGGTTTTCTCCCTGGAGCCTGGCTAATGCATCCTCACCATCTGGAGACTTCACAGTGAGAGACAGGAGAGACTCGTAGGAGGAGAGGGCTCTTCAGGACATCTCATGGTTGACGCCCTCCCTCATTTCCCAGAAAGTCCAGGGTTTGGGCAGGGTTGGCACCCTACGTGTTTAATCTGGGGTATGCAAGGGTGATGATTCTTATATCTTCTCTCCTGACTGAACCTGTGAGACCCCTGCTAGGACCCCAGGAGTTCAGTGCTCCAGAGTCTGGGGCCTGACCTAGCCCGTGTTCCAGTTCCAGGGAGAGGTGAGTATTGTGGCTGGAGGATTCGGGGTGACTTCTTACCAAGCTGCGGGGTCATACTCGGCCCAGACACGCACGTACTCATCCAGGTGGTTGGGGGCCCAGGATGGAGGAGTCTCGGGTGAGGTACTCAAAGTTGTCCATGATGACGGCGACAAAGAGATTCAGCATCTGTGGGGACCCCGGGGACCAAGAGAGAATGGGGGCAGAGACCGAGGGAATGAATGAGTGAGTGAGAAGGATACAGACAGACAGACGGACAGACAGACCCAAAGACATGTACACAGAGGCCCAGATGGAGAGAGGGATAGAGAGAAGATGGGGAAAGGAAATGAGACAGAGACAGAAAGAGACTGGGGAATGGAGAGGTGATGCTCACTCACACAAGGAGGTCCAGTGAGAGAGAGATCAAGTGGAGAGATGGGGAAGAGGAAGAGAGAAACAGAGAGAGATGGAGAGAGAGAGATACAAAGAGACAAAGACTGGCCGGGCACGGTGGATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGACAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCACCTGTAATCCCAGCTACTTGGGAGGTTGAAGCTGAAGAATCGGTTGAACCTGGGAGGTGGAGGCTGCAGTGAGCTGAGGTCTCGCCACTGCACTTTAGCCTGGGCAACAGAGTGAGACTCCATTTCAAAGAAAAAAAAAAAAGAGAGAGAGAGACAAAGACCAAGAATGATGGAAAGAAACAGAGTCAGTGAGAGGGAGGGGAGGCTTCTGAAACAGGGACCAACACCAAGAGAACCACTGTGACCCCAAATCCTCCCACATCTGCCCCCAACAAGGCCAAAGTGAGGTATTTCTTCCCTCGCAATGTTTTTTTTTTTTTTGTTTGTTTTTGTTTGTTTTTGAGACAGGATCTCATTCTGTCGCCCTGGCTGGGGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCGACCTCCAAGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGCACAGCACCACGTGTGCAGCTAATTCAATTTTTTTTTTTTTTTTTAAAGAGATGGGTTTCACACCATGCTGTCCAGGCTGGTCTTGTATTCCTGGGCTCAAGTGACCCTCCCACCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATCGGCCACTACGCCCAGCTGAAATATTTCATTGAGTCTCAAATGGGGGAATTCTGGCCCCCACTCCCAACCCCACCCCCACCCCCTGGGGGCACCTGGCAATGTCCGGAGACATTTTTGGTTGTCACAACAGGAGGAACGGGTGGCGTGTGCTGCCAGCATCTGGTGGGGGGAGGACAGGGATGCTGCCATACACTGCAGTGCACATGATGGCCCCACCCCAAAGAATCAGCCACCCCCAAATGTCAACAGTGCTGAGTTTGAGACGCTCAGGGTCACCTGATCCCAGGCTGGTTCAGAGAAGCCTTGGAGGGAACAAGCCTTCGACACAGCCACATTCCACAGAAACCCACTCCCCTGAAAGGAAGCCAGGCTTAGGGAGCCCAGACGGCCCTCACAGTGTCCACAGACTCACCAGAAACGAGCAGAGGAAGATGAAGGAAACAAAGTAAAAATAAGCAAATTCATTGCCACACTCTCGAGTCAGGATGCCAGAGTTCTTATCACACGGTTTCCCGCTGAGGCAGGAAAGCATGATGTTGTGCCAAGCTTCCCCGGTGGCACTCCTGAGGACAGGGAGAAATCAGAGACTCGGACACCCAGCCCTGACTGGGTACCAACGCCTCCCCAGGAGGTGGAGCACACACGTTGAGCACTTGGGCTCTGGAGCTGGCCAGGCAAGCCCCAGGTGGACCACCTCCTTTTACTGGGAGCTGAGAGAAGGGAATTCACATTCTTGGCTGTGCACTGAAGTCCACAGAGAGCTTTGAAAAAATACCAATGCCCGTGCCCCACCCCAGCAGACTTGGATTCAGTTGGTCTAGGGTGGGATTTGAGGACACTGATATGTTTTTTTCTTTTCTTTTCCTTCTCTCTCTCTTTCT
|
pathogenic
| 299,897 |
Classify the chromosome 19 variant at position 13257437 affecting gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2', 'Migraine,_familial_hemiplegic,_1', 'Spinocerebellar_ataxia_type_6']
|
GCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTCCTTCTCTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCTTCACTTTCCTTTTTCCTTCCTTCCCTTCATTCCTTCCACCCTTTCCCCTTTCTCCTTTCCTTTCTCTCTTCTTCCTTCTTTCCTTCGCTCCCTTTCTTTCTTCTTCATTCCTTCTTCCCTATCTCCTTCCTTCCCTCCCTCCTTTCTTTCTCTCTCTCATTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTTTTTTTTTTTTTTCTTTGACACGGGCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGACTCAAGTGATCCTCCCGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTAAAACTTTTTTTTTTTAATCATAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTTCCGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCTAAAGTGTTAAGATTACAGGCGTGAGCCACTGCGCCCAGCCCATTCTTTCTTACTGAATACTTTGCTGCGTCTTCTCCTTCTCTTTGAGGGAGAGAGAAGGAGGAATAGTGGTTATTAAGTCTTAAGGGTCAAGGGAGCAGAGGATATATTCTAGGTCCTCTATTTAGCTTGGATGATGCCAGAGAGGCAAAGAGTCATGTCTATACTCTCTGGTAGACAGGGGACTGGATTTTCTTTCCTTTTCTTTTTTTGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGTAGTGCAGTGGCATAATGATAGCTCACTGCAGCCTCGAACTCCCAAGCTCAAGCATCCTCCCACCTCAGCCTCCCATGTTACTGGGGCTAAAGGTGTGCACCATCCTGCCTGGCTAATTTTTTTGATTTGTAGTAGAGATGGGGTCTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCCTCCTGCCTCAGCTTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTTGGCTTTTCATTCATAAATATTCACCACCCTTCGCTAGGGGAGATTGTATTTGCCCACTCCACTGATGTCAGAATGGATGTGTGACTTGCTTTGGCTGATGAAATGTGAGCAGAAGTGACATGTGTAATTTTTGAGCACAAGCCTGAAGAACTGAACCTCAGTCTGACATACTCTCTTTTTCATCTGGAGCATCTCAGAGGGAGGCTGCTCTGCTGCTCTGCCAGCCTGGGAACCAGAATAAAGATGGCAAGATCCACAACTGATGTTGACATGCAGTGTGAGCAAAAAATAAGTCCCTTTGTGGATATTTGGCAATGAAATCTGGGGTTGCTTGTTACTGCGGCATAACCTAGTCTAAACTGACTGATACATACACTATATGATGTGTTTCCTCTGGAAACTCCATGAAGGGCTGCCCTGAAGACTGGATTCGGTTGGGACAATGCTTCTGTTCCCTCCCCCAGGTACCCCTAGAAAGGGGTTCCTGGGTGTTGTGTGTGTTTTAAAGTTTGTGTGTGTCCCCAGTTTTTAAAGGACAGATGGAATTGGAAGTGGCACCTCATTTTTCTCCAGGCTGTATTCCTCCATCATCTTGTCCCCTTGCTCCTGGAAGGTGATGATGATCAAGGCCACAAAGATATTGACAAAGAAGAAGGGGAACACCACAAAGTAGACGACGTAGAAAATGGACATCTCCATGCGGTACCCGGGGCTGGGGCCCTGGTTCTCAAAGGTGGCGTCCACCGAATGCTTGAGGACCCTGCAAGGAATGGGGCAGGGAGAGGGAAGGGGCAGGAAGGAGAGAGACAGGGACCCAAGGGGTGATGAGGAAGGTGGAGAGAGGGTGGAAGTGAGATGGCAGAACAGGAACAGAGGGAAATGAAAAAGAAATTTAAGTAGTCGCTGTTTTTTGAAAGGCTGACAACAATGTCAGTTATTTCTTAATTTTAATTTTAATTTTTTGAGATGGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTTGGGTCACTACAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACATGCGCCACCAAGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGTCTCCCAAACTGTTGAGATTACAGGTGTGAGCCACCACGCCTGGCCAATGTCAGTCATTTCTACTGCTGTGCATGAAGGGCTTGCTGTGTGCTGGAAACAATATTCAACAATTCATCCCCACCGGCTCAGCAACCCTCCCAGGGAGGTTATTACTGGCTCCACTTTGCACATGAGGAACTTGAGGTTCAGCAATTTAAAGGGACGTGCTGAAGACCACCCACTTATAAGTGGCCAAGTTGGGATTTAAAGACAGGTTGTGGCAATGGAGGGAGTAGAGGTGGGTGTATGCATGTAGAGTGGGTATTTGAGCACAGGTGGTGCTGGGTGCTCAGGAGGTACAATGGGGATATATATGAGAGTGGGTAAGTGCACAGCAGCTCTGTACAGTAGTGCAGGTTGCACACTGCTCAAAGGCTCTGTGTCTAAGCGATACCTTCACATGATAGGCATGATAGATTTGTGTATTCATGATGACAATTTTTTGGCAGGTGGTCCTTCAGTGCCTTGTTTGAACAAAATCATTTAAGTCTATTGCGATGATTTTCAGACAGATGGAAATGAAGTCTGTTGAGAAAGGTGTTTAAAAAAACTTTGCTCAAAGGTGCCTTGTGGGTTAGCATTATTCCCACATGTGTGAGTACTGGATGTGTCTGAGAGTGGGTAGTAGGGCATGTTCAGGTTGGCATATTTGCTGAGAGAGGGAGGGAGGTGAGGATGCTGAGGGCACATGCTGGAATCTACCAAGCTTCCAGCCTGGCATTTCCAAGACCTCTGAGAGAAAGACCATTACTTGGACGAGGTGAGGGAGGGAGGCATTTGTTTTGGGTGCAAATTAAGGGGGTACTGAAAATCTCAGTAATCAAGATAATCTTTTGCTCCAATATTTTAAAAAATCAAAATTAATGCAAAAAGTCCATGATGAACAAATATCAATTTCTTCTTCTTTTTTTTTTTCAGGGATAGGGGTCTCCTTCTGTTGTCTAGGCTGGAGTACAATGGCATAATCACAGCTCACTGCAGCCTTGAACTCTTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGATAACAGGTATGAGCCACCACAAGTGGCTCAAAATTTTAAATAAAGACTAAGTCCATGATTCAGCCTCACTTTTTTTTTTTTTTGAAGGCGGGGAGGCCATAGTCTTGCTCTGTCACTCAGGATGAAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCGTGTCTCAGCCTCCTGAGTAGCCGGGACCACAGGTGTGAGCCACCATGCCTGGCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGATTTTTAGTAGAAATGGAGTTTTGCCATGATGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATACATCTGCCTTGGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTCCAAGACCTTTC
|
GCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTCCTTCTCTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCTTCACTTTCCTTTTTCCTTCCTTCCCTTCATTCCTTCCACCCTTTCCCCTTTCTCCTTTCCTTTCTCTCTTCTTCCTTCTTTCCTTCGCTCCCTTTCTTTCTTCTTCATTCCTTCTTCCCTATCTCCTTCCTTCCCTCCCTCCTTTCTTTCTCTCTCTCATTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTTTTTTTTTTTTTTCTTTGACACGGGCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGCAATCACAGCTCACTGCAGCCTTGACCTCCTGGACTCAAGTGATCCTCCCGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTAAAACTTTTTTTTTTTAATCATAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTTCCGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCTAAAGTGTTAAGATTACAGGCGTGAGCCACTGCGCCCAGCCCATTCTTTCTTACTGAATACTTTGCTGCGTCTTCTCCTTCTCTTTGAGGGAGAGAGAAGGAGGAATAGTGGTTATTAAGTCTTAAGGGTCAAGGGAGCAGAGGATATATTCTAGGTCCTCTATTTAGCTTGGATGATGCCAGAGAGGCAAAGAGTCATGTCTATACTCTCTGGTAGACAGGGGACTGGATTTTCTTTCCTTTTCTTTTTTTGAGAGAGGGTCTTGCTCTGTTGCCCAGGCTGTAGTGCAGTGGCATAATGATAGCTCACTGCAGCCTCGAACTCCCAAGCTCAAGCATCCTCCCACCTCAGCCTCCCATGTTACTGGGGCTAAAGGTGTGCACCATCCTGCCTGGCTAATTTTTTTGATTTGTAGTAGAGATGGGGTCTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCCTCCTGCCTCAGCTTCCCAAAATGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTTGGCTTTTCATTCATAAATATTCACCACCCTTCGCTAGGGGAGATTGTATTTGCCCACTCCACTGATGTCAGAATGGATGTGTGACTTGCTTTGGCTGATGAAATGTGAGCAGAAGTGACATGTGTAATTTTTGAGCACAAGCCTGAAGAACTGAACCTCAGTCTGACATACTCTCTTTTTCATCTGGAGCATCTCAGAGGGAGGCTGCTCTGCTGCTCTGCCAGCCTGGGAACCAGAATAAAGATGGCAAGATCCACAACTGATGTTGACATGCAGTGTGAGCAAAAAATAAGTCCCTTTGTGGATATTTGGCAATGAAATCTGGGGTTGCTTGTTACTGCGGCATAACCTAGTCTAAACTGACTGATACATACACTATATGATGTGTTTCCTCTGGAAACTCCATGAAGGGCTGCCCTGAAGACTGGATTCGGTTGGGACAATGCTTCTGTTCCCTCCCCCAGGTACCCCTAGAAAGGGGTTCCTGGGTGTTGTGTGTGTTTTAAAGTTTGTGTGTGTCCCCAGTTTTTAAAGGACAGATGGAATTGGAAGTGGCACCTCATTTTTCTCCAGGCTGTATTCCTCCATCATCTTGTCCCCTTGCTCCTGGAAGGTGATGATGATCAAGGCCACAAAGATATTGACAAAGAAGGGGAACACCACAAAGTAGACGACGTAGAAAATGGACATCTCCATGCGGTACCCGGGGCTGGGGCCCTGGTTCTCAAAGGTGGCGTCCACCGAATGCTTGAGGACCCTGCAAGGAATGGGGCAGGGAGAGGGAAGGGGCAGGAAGGAGAGAGACAGGGACCCAAGGGGTGATGAGGAAGGTGGAGAGAGGGTGGAAGTGAGATGGCAGAACAGGAACAGAGGGAAATGAAAAAGAAATTTAAGTAGTCGCTGTTTTTTGAAAGGCTGACAACAATGTCAGTTATTTCTTAATTTTAATTTTAATTTTTTGAGATGGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTTGGGTCACTACAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACATGCGCCACCAAGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGTCTCCCAAACTGTTGAGATTACAGGTGTGAGCCACCACGCCTGGCCAATGTCAGTCATTTCTACTGCTGTGCATGAAGGGCTTGCTGTGTGCTGGAAACAATATTCAACAATTCATCCCCACCGGCTCAGCAACCCTCCCAGGGAGGTTATTACTGGCTCCACTTTGCACATGAGGAACTTGAGGTTCAGCAATTTAAAGGGACGTGCTGAAGACCACCCACTTATAAGTGGCCAAGTTGGGATTTAAAGACAGGTTGTGGCAATGGAGGGAGTAGAGGTGGGTGTATGCATGTAGAGTGGGTATTTGAGCACAGGTGGTGCTGGGTGCTCAGGAGGTACAATGGGGATATATATGAGAGTGGGTAAGTGCACAGCAGCTCTGTACAGTAGTGCAGGTTGCACACTGCTCAAAGGCTCTGTGTCTAAGCGATACCTTCACATGATAGGCATGATAGATTTGTGTATTCATGATGACAATTTTTTGGCAGGTGGTCCTTCAGTGCCTTGTTTGAACAAAATCATTTAAGTCTATTGCGATGATTTTCAGACAGATGGAAATGAAGTCTGTTGAGAAAGGTGTTTAAAAAAACTTTGCTCAAAGGTGCCTTGTGGGTTAGCATTATTCCCACATGTGTGAGTACTGGATGTGTCTGAGAGTGGGTAGTAGGGCATGTTCAGGTTGGCATATTTGCTGAGAGAGGGAGGGAGGTGAGGATGCTGAGGGCACATGCTGGAATCTACCAAGCTTCCAGCCTGGCATTTCCAAGACCTCTGAGAGAAAGACCATTACTTGGACGAGGTGAGGGAGGGAGGCATTTGTTTTGGGTGCAAATTAAGGGGGTACTGAAAATCTCAGTAATCAAGATAATCTTTTGCTCCAATATTTTAAAAAATCAAAATTAATGCAAAAAGTCCATGATGAACAAATATCAATTTCTTCTTCTTTTTTTTTTTCAGGGATAGGGGTCTCCTTCTGTTGTCTAGGCTGGAGTACAATGGCATAATCACAGCTCACTGCAGCCTTGAACTCTTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGATAACAGGTATGAGCCACCACAAGTGGCTCAAAATTTTAAATAAAGACTAAGTCCATGATTCAGCCTCACTTTTTTTTTTTTTTGAAGGCGGGGAGGCCATAGTCTTGCTCTGTCACTCAGGATGAAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCGTGTCTCAGCCTCCTGAGTAGCCGGGACCACAGGTGTGAGCCACCATGCCTGGCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGATTTTTAGTAGAAATGGAGTTTTGCCATGATGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATACATCTGCCTTGGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCCGGCCTCCAAGACCTTTCNNN
|
pathogenic
| 299,971 |
For chromosome 19, position 13262727, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
CACTCTGTCACGCAGGCTGGAGTGCAGTGGTACCATCATAGTGCATTGCAGCCTTGAACTCCTGTGTTTAAACAATCCTCCCGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGTGTGCTACCATGCCCCGCTAACTTTTAAAATTTATTTTGTAGGATGGGCTCTCATTATGTTGCCCAACCTGGTCTCCAACTCCTGGCCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACTGCACCTGGCCTCTTACCTAACTTATTTGGTAATGAAACCTGATCTGATTGGACATGAAGCTCTTTATACTTGTTATTTACCCCATTTGATGTAAATAGTTACACATTTTATGGCAGAAATATTGTGTTTGATTATAGGGCTGCCTTAGACCCAGCTGAGGGTGTCATGTCCCACATGGGAATCTCAAAATATTCTCAACTTTGAAACACATCTGCCTGTAACGATTTCAAGTAAGGAACTGTGGATGTGTATTAATATCCCTCACATGACAAAGGCGGTGGCTGAAAGGTCAATCAATTTGCTTATGACTCATTCTGTGGCTCTGGGTGGTGACTCAAATTCTAAAACCGGTTTTCTTTCTACCCAAGATCCAAGCTGGTTGCAACTGAGTCACTTCCAAGGCTCATCACTTCTCCAGTCTCTGAGCCCAAGTGGCCAATGCCTCTAGCCACTTCCCCCCTGCCCACCTGCTGGTTCCAATGGGAATGTGCTGGAAAGTGGAGACCCACCGACAATCTTTCTCAAACTCTTTGGACTCGTCAGTGCAGTGGAAGAATTTCCCCTTGAAGAGCTGCACAGCCACCACGGCGAAGATGAACATGAATAGCATGTAGACGATGAGGATGTTGAAGACGTTTTTAAGTGAGTTCACCACACAGTCAAACACAGCCTGTGGGGTGGAGTTGACAGAGAGCATGAGGGGCTGGGGACCTGCCCAACCTTCTGCCTCCAGTGGCCCATCATACCAAAATACTGCCATGATCATTCCCATTTTACAGGCAAGGTCATAAGTCAAGTCACTAGGGTAAGGTCCCCCCAGCTTTCAGAAATAAGCGTTGGAGGAGTTGGACTCAATCCTGGCATTCTATGGATCTAAAACTCCCAGATGGGATACCAGAGATGCTTTTAAGTGATACAGGAGCCCAACACAGAAAAACAAGGTAACAAAGTTACTTCCTTTCCAACTCTCTCAATCCTTTTGAGTGAAGGAGAAATTTTTACTTAGTTGCTACCATGTTAACACCTACCATTGACATTTTCCCTCTTTAACCAAGAAAGAGCAGTTGTCAATGCACAAAGCCTTAGGCAGGCAGCCATATTTGGTTAGATTTCCATAACAGTATCTGTTTTCTGTCTTTAATTTTTAGTAGAGACAGAGTCTAACTATGTTGCCCAGGCTGGTCTCATTCTCCTGGGCTCAAGCAACACTCCTGCCTTGGTCTTTCAAAATGCAGGGATTACGGGTGTGACTTGATTTAAAGAAACATATTACATAAGAGATAATACTGGGGACCCCCAGGTGAAGCATAGAGTGAAAGTGGGTGCTCTAATGACTGGATTTTATTTCCCTTAATATATATATATGTTTTTGAATGACAGGCTTTTGGGAAATGCTGGTTCATGCTATTTTGGAATGGGAGATACTAGAGCCTAGAATAGGTAGATGAAAAGTCAAAATTTTATGGAACAAGAAATCTAGTTCCTGCTTCCCAGATCACGGTTATACCCTTTTAAATCCATATGATGCCTTCATGCGAATTAGGAAAAAGGATCTTAACCCCAAGACACTTCATCTAAAGAAAAACTGCCATAATACACAGATTATTTTAGGTCAGCTCACTTTACTGCCATCTGCTGGGAAGTTGTAATAATACAAATATCCATACACGATGGCTAGGATGTTATCAGCACCTCCTTTAATGTGTTGTCCTTGAGCAGTGTACAACCTGCTCAGCTGTACATGATAACCCTGACAGTCCCCCCCACCGCACCCCACCATCTCCCAATCTCACCTTGAGCTTTGGCAGCCGCTTGATGGTTTTAAGAGGTCGTAGCACCCGGAGGACTCGGAGGGATTTAATCGTGTTGATGTCTTTTCCTTTGCTATTGCCACTGTGGAGGAATGTTTAGGTGGGAAGAAGGGAAGAGAGGAAGCAGAGGTCAGGTTGGGTAGGGGGCAGCCCACAGCTCCATGGGACCCTACCCTCCCAGGCCTAGAAGTCTGGGGTGAGCTTGGCACAGCCCTGCCCTTCCTGGTGAAGAGTGGTCCATTTCACCTGTTAAGCTTGGGCTCGGGAGCCAGTAAGTACGTGGCTTTTTGTGGTTCTGGTCCCAGGGTTGGTTGAGGGCCCTTTGCCATCTGGCTGGGCCTGAGCAGCTGTATTGGGTGTCCCTGAGACCCAGCACAAGGGGGTTGGCTGATTCCCCACCCCCATTTCTGCACAGCTTTTCTTTTTTCTTTTTTGAGACAGGGTCTGGCTCTGTCACCAAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGCTAAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACTGCGCCTGGCTAATTGTTTTGTCTTTTTGTAGAGATGAGGTTTCACCATGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCTGCCCTCCTCACCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTACACCTGGTCACAGCTATTTTCAAAAAAGCCCTTGGTCTAGGAGTTTAGTGGTCCCCTATGTATTCTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCTCCAAGTAGCTGGGACTACAGGTGCGTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCCTGTGTATTCTTTTTAAAGGTGGTATCAGTGGGCTCTTAAAAAAATGGGATTTTCTCCCCCTTCCAATGGGATTCTGGAAGATACTTAAAGTGGCCCTTATACCAAATCTCCCCTCCCCCACCATATTCCCTGAGTCTGAAGGAGGGAAAATAACCGGGTGCCGCTGTTTTCAGATGCTGATGTGGCTGCTGCCATGGTCTCTGCTGCATTGCTCCAAGGGTCTCTGAGCCCATCTTTGCCAGAGAGGACTGCACAGAAGTTCAGTCCAAGGTCTGTTGGAACTGAGCTTAGCAATGCAGACCCCAGAGATGCCATGACACCCTTGGCCAACCATGACTCAGGCCCCCCAAGAGGAGGGTATTGAGTGGGACCATGAATAGCTTGTGGTTCATGGCACTCATGACCCATCCAGTTGTCCACACCAGAAACCTGAGAGTCATGGTCAACTGCCTGCCCTCTATCCCCATCCCCATCCCCAGTGGGTCACCTTCCTTAACATCCCGCCATCCATTCCTGGGTGCCATCCCCCCTCACCCGTCTCCCAACTTGCTCCTCATTCCCTGCCTTTTCTTCCATGTTTTATGCACACAGTGGCTAAAGCCAATGACCTTGTCACTCTTTCTCTTGCTCAGAATTCTTCTGGAGCACGTGAATTCTCAGAAGAGCAAGTGCAAACTTCTGGGCATGGCATTCAATGCTCTTGAAAATCTAGTCCAACTTACCTTCACCTTTGCATTCCCATTTATGGCTACATATCTCAAGCCCCAGCCACATTCTTTTGCCTCTGTCTGCTTATGCATATACTGTTCCCGCTGCTAGAAATGCCCTTCCTCCACTTCTCCAGTCACAGAACTACCCGGTCCTCAAAGCCCAAATTACCTGTTGCTCCCTCCGACAGCATTTCCTGACTGCCTACCTCTGGCTCCTGCCAGCTCCTATGTGCTATTTCGG
|
CACTCTGTCACGCAGGCTGGAGTGCAGTGGTACCATCATAGTGCATTGCAGCCTTGAACTCCTGTGTTTAAACAATCCTCCCGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGTGTGCTACCATGCCCCGCTAACTTTTAAAATTTATTTTGTAGGATGGGCTCTCATTATGTTGCCCAACCTGGTCTCCAACTCCTGGCCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACTGCACCTGGCCTCTTACCTAACTTATTTGGTAATGAAACCTGATCTGATTGGACATGAAGCTCTTTATACTTGTTATTTACCCCATTTGATGTAAATAGTTACACATTTTATGGCAGAAATATTGTGTTTGATTATAGGGCTGCCTTAGACCCAGCTGAGGGTGTCATGTCCCACATGGGAATCTCAAAATATTCTCAACTTTGAAACACATCTGCCTGTAACGATTTCAAGTAAGGAACTGTGGATGTGTATTAATATCCCTCACATGACAAAGGCGGTGGCTGAAAGGTCAATCAATTTGCTTATGACTCATTCTGTGGCTCTGGGTGGTGACTCAAATTCTAAAACCGGTTTTCTTTCTACCCAAGATCCAAGCTGGTTGCAACTGAGTCACTTCCAAGGCTCATCACTTCTCCAGTCTCTGAGCCCAAGTGGCCAATGCCTCTAGCCACTTCCCCCCTGCCCACCTGCTGGTTCCAATGGGAATGTGCTGGAAAGTGGAGACCCACCGACAATCTTTCTCAAACTCTTTGGACTCGTCAGTGCAGTGGAAGAATTTCCCCTTGAAGAGCTGCACAGCCACCACGGCGAAGATGAACATGAATAGCATGTAGACGATGAGGATGTTGAAGACGTTTTTAAGTGAGTTCACCACACAGTCAAACACAGCCTGTGGGGTGGAGTTGACAGAGAGCATGAGGGGCTGGGGACCTGCCCAACCTTCTGCCTCCAGTGGCCCATCATACCAAAATACTGCCATGATCATTCCCATTTTACAGGCAAGGTCATAAGTCAAGTCACTAGGGTAAGGTCCCCCCAGCTTTCAGAAATAAGCGTTGGAGGAGTTGGACTCAATCCTGGCATTCTATGGATCTAAAACTCCCAGATGGGATACCAGAGATGCTTTTAAGTGATACAGGAGCCCAACACAGAAAAACAAGGTAACAAAGTTACTTCCTTTCCAACTCTCTCAATCCTTTTGAGTGAAGGAGAAATTTTTACTTAGTTGCTACCATGTTAACACCTACCATTGACATTTTCCCTCTTTAACCAAGAAAGAGCAGTTGTCAATGCACAAAGCCTTAGGCAGGCAGCCATATTTGGTTAGATTTCCATAACAGTATCTGTTTTCTGTCTTTAATTTTTAGTAGAGACAGAGTCTAACTATGTTGCCCAGGCTGGTCTCATTCTCCTGGGCTCAAGCAACACTCCTGCCTTGGTCTTTCAAAATGCAGGGATTACGGGTGTGACTTGATTTAAAGAAACATATTACATAAGAGATAATACTGGGGACCCCCAGGTGAAGCATAGAGTGAAAGTGGGTGCTCTAATGACTGGATTTTATTTCCCTTAATATATATATATGTTTTTGAATGACAGGCTTTTGGGAAATGCTGGTTCATGCTATTTTGGAATGGGAGATACTAGAGCCTAGAATAGGTAGATGAAAAGTCAAAATTTTATGGAACAAGAAATCTAGTTCCTGCTTCCCAGATCACGGTTATACCCTTTTAAATCCATATGATGCCTTCATGCGAATTAGGAAAAAGGATCTTAACCCCAAGACACTTCATCTAAAGAAAAACTGCCATAATACACAGATTATTTTAGGTCAGCTCACTTTACTGCCATCTGCTGGGAAGTTGTAATAATACAAATATCCATACACGATGGCTAGGATGTTATCAGCACCTCCTTTAATGTGTTGTCCTTGAGCAGTGTACAACCTGCTCAGCTGTACATGATAACCCTGACAGTCCCCCCCACCGCACCCCACCATCTCCCAATCACCTTGAGCTTTGGCAGCCGCTTGATGGTTTTAAGAGGTCGTAGCACCCGGAGGACTCGGAGGGATTTAATCGTGTTGATGTCTTTTCCTTTGCTATTGCCACTGTGGAGGAATGTTTAGGTGGGAAGAAGGGAAGAGAGGAAGCAGAGGTCAGGTTGGGTAGGGGGCAGCCCACAGCTCCATGGGACCCTACCCTCCCAGGCCTAGAAGTCTGGGGTGAGCTTGGCACAGCCCTGCCCTTCCTGGTGAAGAGTGGTCCATTTCACCTGTTAAGCTTGGGCTCGGGAGCCAGTAAGTACGTGGCTTTTTGTGGTTCTGGTCCCAGGGTTGGTTGAGGGCCCTTTGCCATCTGGCTGGGCCTGAGCAGCTGTATTGGGTGTCCCTGAGACCCAGCACAAGGGGGTTGGCTGATTCCCCACCCCCATTTCTGCACAGCTTTTCTTTTTTCTTTTTTGAGACAGGGTCTGGCTCTGTCACCAAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGCTAAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACTGCGCCTGGCTAATTGTTTTGTCTTTTTGTAGAGATGAGGTTTCACCATGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAAGCAATCTGCCCTCCTCACCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTACACCTGGTCACAGCTATTTTCAAAAAAGCCCTTGGTCTAGGAGTTTAGTGGTCCCCTATGTATTCTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCTCCAAGTAGCTGGGACTACAGGTGCGTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCCCTGTGTATTCTTTTTAAAGGTGGTATCAGTGGGCTCTTAAAAAAATGGGATTTTCTCCCCCTTCCAATGGGATTCTGGAAGATACTTAAAGTGGCCCTTATACCAAATCTCCCCTCCCCCACCATATTCCCTGAGTCTGAAGGAGGGAAAATAACCGGGTGCCGCTGTTTTCAGATGCTGATGTGGCTGCTGCCATGGTCTCTGCTGCATTGCTCCAAGGGTCTCTGAGCCCATCTTTGCCAGAGAGGACTGCACAGAAGTTCAGTCCAAGGTCTGTTGGAACTGAGCTTAGCAATGCAGACCCCAGAGATGCCATGACACCCTTGGCCAACCATGACTCAGGCCCCCCAAGAGGAGGGTATTGAGTGGGACCATGAATAGCTTGTGGTTCATGGCACTCATGACCCATCCAGTTGTCCACACCAGAAACCTGAGAGTCATGGTCAACTGCCTGCCCTCTATCCCCATCCCCATCCCCAGTGGGTCACCTTCCTTAACATCCCGCCATCCATTCCTGGGTGCCATCCCCCCTCACCCGTCTCCCAACTTGCTCCTCATTCCCTGCCTTTTCTTCCATGTTTTATGCACACAGTGGCTAAAGCCAATGACCTTGTCACTCTTTCTCTTGCTCAGAATTCTTCTGGAGCACGTGAATTCTCAGAAGAGCAAGTGCAAACTTCTGGGCATGGCATTCAATGCTCTTGAAAATCTAGTCCAACTTACCTTCACCTTTGCATTCCCATTTATGGCTACATATCTCAAGCCCCAGCCACATTCTTTTGCCTCTGTCTGCTTATGCATATACTGTTCCCGCTGCTAGAAATGCCCTTCCTCCACTTCTCCAGTCACAGAACTACCCGGTCCTCAAAGCCCAAATTACCTGTTGCTCCCTCCGACAGCATTTCCTGACTGCCTACCTCTGGCTCCTGCCAGCTCCTATGTGCTATTTCGGNN
|
benign
| 299,993 |
Variant on chromosome 19, at position 13285067, affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Episodic_ataxia_type_2']
|
TTTTCAGCCCCAGTCACTCTGGGCCACCTCCACCCCACCAGGCTCACAGAGAAACTGCCTCAAGGAATGTCTTGCTCCCAAGAGCATCCCCAAGGAATCAGAGCTTCCCCTCTCAACCAGCAGCCATAAGGGCTATGCCTAGGGGTGACCCCAACATCCCACCCTACCTATGAGCATTTTGGATGCAGGAGAAAGTGGCCTGAGGCAGAGCAGCCAGGCTAGGAAGGGGTGTGCTCTGTGGGACTCACGTTGTTCCGAGGTGCGTTGGGCTGCACAGGGTCCTCGGCGGCCAGGGCGATGCTGCTCATGGCAATGACCATGAGGATGCACATCTCAAAGTAGCGCAGGTTCAGGATGTAATGGCACAGGCGGCGAAGGCTGTTGGAGACAGATGGGCGTGCAGAGGTCCACTCAGACCACAGGCTCACAAACCCTTTTCTTCCATAATCTCATGTTACCTACCACTACTGAGATCTCCAACCCCCAAGGCCTCCTACACAACAAACTATTAAACTCCTCCAGGTGGGGGCCCTCTCTGGGTCCTGGAACCCCAAGAAGGCAGAGGGGACCTCGGTGAGAGAAGACATTCACATGCCCTGTTTAGCAAAGTTCCTATCACTCCCAAACGACCCTCTTGAAGTATCTTGATCCCCAAGCTAGGTTGAAGAAATACGGTCCTTAATTCTGTAGGAGATAAAAAGGCTTTTCGATATTAAATGTCCCAGGGCCAAACAATATTGTGAATCTATGGGTTAAGTAGATTTCTTTCTTTCTTTTTAAAAATTAGCTGTGTGACCTTGGGCAAGTTACTTGTCCCCTCTGTGCCTTGGTGCCCTCATCTGTAAAATAGCCGTAATACTAGTGCTTACTTCACAAAATCATGAGACCCAAGACTTAATTTATGCCTGGCTCATGATAGGGGCTCCAAAAAGTTAGTTATTGAAATTATGAATTGCAGGCCTTATCAGAGCCTTGAATGTGCCAATGGGATGTGCCAGTTAACCTCTTAATAAGTGGAGCCAATAATAAATAGTTCATAAGGTTGTGTGAATGGCAGCAGAGCTGAGTGGTTAAGAACAAGGAGGCTAGAGCCAGTGTCTGGGCTCAAACTCCAGCTCTCCCACTGGCTTGCTGTGTGACCTTGGGCAGGTGAATTCACGTCTCTGGACCTCAGTTTTTTCATCTGTCAAATGGAGCTAAGCATAGTAACAACCTCAGAGAAATTAAAAAAAATTTTAAGGCACTCAGAACAGTGCCTGGCACTGAGTAGATACCACATAAGTGTTTCCTTAGTAAAATCGATAAGTCAACTAAATAAAAAAGTACTTTAAAGGTACTTTTATTTATTACTACCCAGGGTGAGTTGCCAAGAGGCAGATTATAGAAAGCAGCTTCTCCCCCATCTTATCTGACATGATCCTTCATTGTCAAGAAGCATTTTGAGCGGTCAGGCTTTCAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAA
|
TTTTCAGCCCCAGTCACTCTGGGCCACCTCCACCCCACCAGGCTCACAGAGAAACTGCCTCAAGGAATGTCTTGCTCCCAAGAGCATCCCCAAGGAATCAGAGCTTCCCCTCTCAACCAGCAGCCATAAGGGCTATGCCTAGGGGTGACCCCAACATCCCACCCTACCTATGAGCATTTTGGATGCAGGAGAAAGTGGCCTGAGGCAGAGCAGCCAGGCTAGGAAGGGGTGTGCTCTGTGGGACTCACGTTGTTCCGAGGTGCGTTGGGCTGCACAGGGTCCTCGGCGGCCAGGGCGATGCTGCTCATGGCAATGACCATGAGGATGCACATCTCAAAGTAGCGCAGGTTCAGGATGTAATGGCACAGGCGGCGAAGGCTGTTGGAGACAGATGGGCGTGCAGAGGTCCACTCAGACCACAGGCTCACAAACCCTTTTCTTCCATAATCTCATGTTACCTACCACTACTGAGATCTCCAACCCCCAAGGCCTCCTACACAACAAACTATTAAACTCCTCCAGGTGGGGGCCCTCTCTGGGTCCTGGAACCCCAAGAAGGCAGAGGGGACCTCGGTGAGAGAAGACATTCACATGCCCTGTTTAGCAAAGTTCCTATCACTCCCAAACGACCCTCTTGAAGTATCTTGATCCCCAAGCTAGGTTGAAGAAATACGGTCCTTAATTCTGTAGGAGATAAAAAGGCTTTTCGATATTAAATGTCCCAGGGCCAAACAATATTGTGAATCTATGGGTTAAGTAGATTTCTTTCTTTCTTTTTAAAAATTAGCTGTGTGACCTTGGGCAAGTTACTTGTCCCCTCTGTGCCTTGGTGCCCTCATCTGTAAAATAGCCGTAATACTAGTGCTTACTTCACAAAATCATGAGACCCAAGACTTAATTTATGCCTGGCTCATGATAGGGGCTCCAAAAAGTTAGTTATTGAAATTATGAATTGCAGGCCTTATCAGAGCCTTGAATGTGCCAATGGGATGTGCCAGTTAACCTCTTAATAAGTGGAGCCAATAATAAATAGTTCATAAGGTTGTGTGAATGGCAGCAGAGCTGAGTGGTTAAGAACAAGGAGGCTAGAGCCAGTGTCTGGGCTCAAACTCCAGCTCTCCCACTGGCTTGCTGTGTGACCTTGGGCAGGTGAATTCACGTCTCTGGACCTCAGTTTTTTCATCTGTCAAATGGAGCTAAGCATAGTAACAACCTCAGAGAAATTAAAAAAAATTTTAAGGCACTCAGAACAGTGCCTGGCACTGAGTAGATACCACATAAGTGTTTCCTTAGTAAAATCGATAAGTCAACTAAATAAAAAAGTACTTTAAAGGTACTTTTATTTATTACTACCCAGGGTGAGTTGCCAAGAGGCAGATTATAGAAAGCAGCTTCTCCCCCATCTTATCTGACATGATCCTTCATTGTCAAGAAGCATTTTGAGCGGTCAGGCTTTCAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA
|
pathogenic
| 300,035 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 13285153, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): what disease(s) if pathogenic?
|
benign
|
TCCCCAAGGAATCAGAGCTTCCCCTCTCAACCAGCAGCCATAAGGGCTATGCCTAGGGGTGACCCCAACATCCCACCCTACCTATGAGCATTTTGGATGCAGGAGAAAGTGGCCTGAGGCAGAGCAGCCAGGCTAGGAAGGGGTGTGCTCTGTGGGACTCACGTTGTTCCGAGGTGCGTTGGGCTGCACAGGGTCCTCGGCGGCCAGGGCGATGCTGCTCATGGCAATGACCATGAGGATGCACATCTCAAAGTAGCGCAGGTTCAGGATGTAATGGCACAGGCGGCGAAGGCTGTTGGAGACAGATGGGCGTGCAGAGGTCCACTCAGACCACAGGCTCACAAACCCTTTTCTTCCATAATCTCATGTTACCTACCACTACTGAGATCTCCAACCCCCAAGGCCTCCTACACAACAAACTATTAAACTCCTCCAGGTGGGGGCCCTCTCTGGGTCCTGGAACCCCAAGAAGGCAGAGGGGACCTCGGTGAGAGAAGACATTCACATGCCCTGTTTAGCAAAGTTCCTATCACTCCCAAACGACCCTCTTGAAGTATCTTGATCCCCAAGCTAGGTTGAAGAAATACGGTCCTTAATTCTGTAGGAGATAAAAAGGCTTTTCGATATTAAATGTCCCAGGGCCAAACAATATTGTGAATCTATGGGTTAAGTAGATTTCTTTCTTTCTTTTTAAAAATTAGCTGTGTGACCTTGGGCAAGTTACTTGTCCCCTCTGTGCCTTGGTGCCCTCATCTGTAAAATAGCCGTAATACTAGTGCTTACTTCACAAAATCATGAGACCCAAGACTTAATTTATGCCTGGCTCATGATAGGGGCTCCAAAAAGTTAGTTATTGAAATTATGAATTGCAGGCCTTATCAGAGCCTTGAATGTGCCAATGGGATGTGCCAGTTAACCTCTTAATAAGTGGAGCCAATAATAAATAGTTCATAAGGTTGTGTGAATGGCAGCAGAGCTGAGTGGTTAAGAACAAGGAGGCTAGAGCCAGTGTCTGGGCTCAAACTCCAGCTCTCCCACTGGCTTGCTGTGTGACCTTGGGCAGGTGAATTCACGTCTCTGGACCTCAGTTTTTTCATCTGTCAAATGGAGCTAAGCATAGTAACAACCTCAGAGAAATTAAAAAAAATTTTAAGGCACTCAGAACAGTGCCTGGCACTGAGTAGATACCACATAAGTGTTTCCTTAGTAAAATCGATAAGTCAACTAAATAAAAAAGTACTTTAAAGGTACTTTTATTTATTACTACCCAGGGTGAGTTGCCAAGAGGCAGATTATAGAAAGCAGCTTCTCCCCCATCTTATCTGACATGATCCTTCATTGTCAAGAAGCATTTTGAGCGGTCAGGCTTTCAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTA
|
TCCCCAAGGAATCAGAGCTTCCCCTCTCAACCAGCAGCCATAAGGGCTATGCCTAGGGGTGACCCCAACATCCCACCCTACCTATGAGCATTTTGGATGCAGGAGAAAGTGGCCTGAGGCAGAGCAGCCAGGCTAGGAAGGGGTGTGCTCTGTGGGACTCACGTTGTTCCGAGGTGCGTTGGGCTGCACAGGGTCCTCGGCGGCCAGGGCGATGCTGCTCATGGCAATGACCATGAGGATGCACATCTCAAAGTAGCGCAGGTTCAGGATGTAATGGCACAGGCGGCGAAGGCTGTTGGAGACAGATGGGCGTGCAGAGGTCCACTCAGACCACAGGCTCACAAACCCTTTTCTTCCATAATCTCATGTTACCTACCACTACTGAGATCTCCAACCCCCAAGGCCTCCTACACAACAAACTATTAAACTCCTCCAGGTGGGGGCCCTCTCTGGGTCCTGGAACCCCAAGAAGGCAGAGGGGACCTCGGTGAGAGAAGACATTCACATGCCCTGTTTAGCAAAGTTCCTATCACTCCCAAACGACCCTCTTGAAGTATCTTGATCCCCAAGCTAGGTTGAAGAAATACGGTCCTTAATTCTGTAGGAGATAAAAAGGCTTTTCGATATTAAATGTCCCAGGGCCAAACAATATTGTGAATCTATGGGTTAAGTAGATTTCTTTCTTTCTTTTTAAAAATTAGCTGTGTGACCTTGGGCAAGTTACTTGTCCCCTCTGTGCCTTGGTGCCCTCATCTGTAAAATAGCCGTAATACTAGTGCTTACTTCACAAAATCATGAGACCCAAGACTTAATTTATGCCTGGCTCATGATAGGGGCTCCAAAAAGTTAGTTATTGAAATTATGAATTGCAGGCCTTATCAGAGCCTTGAATGTGCCAATGGGATGTGCCAGTTAACCTCTTAATAAGTGGAGCCAATAATAAATAGTTCATAAGGTTGTGTGAATGGCAGCAGAGCTGAGTGGTTAAGAACAAGGAGGCTAGAGCCAGTGTCTGGGCTCAAACTCCAGCTCTCCCACTGGCTTGCTGTGTGACCTTGGGCAGGTGAATTCACGTCTCTGGACCTCAGTTTTTTCATCTGTCAAATGGAGCTAAGCATAGTAACAACCTCAGAGAAATTAAAAAAAATTTTAAGGCACTCAGAACAGTGCCTGGCACTGAGTAGATACCACATAAGTGTTTCCTTAGTAAAATCGATAAGTCAACTAAATAAAAAAGTACTTTAAAGGTACTTTTATTTATTACTACCCAGGGTGAGTTGCCAAGAGGCAGATTATAGAAAGCAGCTTCTCCCCCATCTTATCTGACATGATCCTTCATTGTCAAGAAGCATTTTGAGCGGTCAGGCTTTCAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTANNN
|
benign
| 300,041 |
Is the genetic mutation found on chromosome 19 at position 13285166, within the gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2', 'Inborn_genetic_diseases']
|
AGAGCTTCCCCTCTCAACCAGCAGCCATAAGGGCTATGCCTAGGGGTGACCCCAACATCCCACCCTACCTATGAGCATTTTGGATGCAGGAGAAAGTGGCCTGAGGCAGAGCAGCCAGGCTAGGAAGGGGTGTGCTCTGTGGGACTCACGTTGTTCCGAGGTGCGTTGGGCTGCACAGGGTCCTCGGCGGCCAGGGCGATGCTGCTCATGGCAATGACCATGAGGATGCACATCTCAAAGTAGCGCAGGTTCAGGATGTAATGGCACAGGCGGCGAAGGCTGTTGGAGACAGATGGGCGTGCAGAGGTCCACTCAGACCACAGGCTCACAAACCCTTTTCTTCCATAATCTCATGTTACCTACCACTACTGAGATCTCCAACCCCCAAGGCCTCCTACACAACAAACTATTAAACTCCTCCAGGTGGGGGCCCTCTCTGGGTCCTGGAACCCCAAGAAGGCAGAGGGGACCTCGGTGAGAGAAGACATTCACATGCCCTGTTTAGCAAAGTTCCTATCACTCCCAAACGACCCTCTTGAAGTATCTTGATCCCCAAGCTAGGTTGAAGAAATACGGTCCTTAATTCTGTAGGAGATAAAAAGGCTTTTCGATATTAAATGTCCCAGGGCCAAACAATATTGTGAATCTATGGGTTAAGTAGATTTCTTTCTTTCTTTTTAAAAATTAGCTGTGTGACCTTGGGCAAGTTACTTGTCCCCTCTGTGCCTTGGTGCCCTCATCTGTAAAATAGCCGTAATACTAGTGCTTACTTCACAAAATCATGAGACCCAAGACTTAATTTATGCCTGGCTCATGATAGGGGCTCCAAAAAGTTAGTTATTGAAATTATGAATTGCAGGCCTTATCAGAGCCTTGAATGTGCCAATGGGATGTGCCAGTTAACCTCTTAATAAGTGGAGCCAATAATAAATAGTTCATAAGGTTGTGTGAATGGCAGCAGAGCTGAGTGGTTAAGAACAAGGAGGCTAGAGCCAGTGTCTGGGCTCAAACTCCAGCTCTCCCACTGGCTTGCTGTGTGACCTTGGGCAGGTGAATTCACGTCTCTGGACCTCAGTTTTTTCATCTGTCAAATGGAGCTAAGCATAGTAACAACCTCAGAGAAATTAAAAAAAATTTTAAGGCACTCAGAACAGTGCCTGGCACTGAGTAGATACCACATAAGTGTTTCCTTAGTAAAATCGATAAGTCAACTAAATAAAAAAGTACTTTAAAGGTACTTTTATTTATTACTACCCAGGGTGAGTTGCCAAGAGGCAGATTATAGAAAGCAGCTTCTCCCCCATCTTATCTGACATGATCCTTCATTGTCAAGAAGCATTTTGAGCGGTCAGGCTTTCAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGT
|
AGAGCTTCCCCTCTCAACCAGCAGCCATAAGGGCTATGCCTAGGGGTGACCCCAACATCCCACCCTACCTATGAGCATTTTGGATGCAGGAGAAAGTGGCCTGAGGCAGAGCAGCCAGGCTAGGAAGGGGTGTGCTCTGTGGGACTCACGTTGTTCCGAGGTGCGTTGGGCTGCACAGGGTCCTCGGCGGCCAGGGCGATGCTGCTCATGGCAATGACCATGAGGATGCACATCTCAAAGTAGCGCAGGTTCAGGATGTAATGGCACAGGCGGCGAAGGCTGTTGGAGACAGATGGGCGTGCAGAGGTCCACTCAGACCACAGGCTCACAAACCCTTTTCTTCCATAATCTCATGTTACCTACCACTACTGAGATCTCCAACCCCCAAGGCCTCCTACACAACAAACTATTAAACTCCTCCAGGTGGGGGCCCTCTCTGGGTCCTGGAACCCCAAGAAGGCAGAGGGGACCTCGGTGAGAGAAGACATTCACATGCCCTGTTTAGCAAAGTTCCTATCACTCCCAAACGACCCTCTTGAAGTATCTTGATCCCCAAGCTAGGTTGAAGAAATACGGTCCTTAATTCTGTAGGAGATAAAAAGGCTTTTCGATATTAAATGTCCCAGGGCCAAACAATATTGTGAATCTATGGGTTAAGTAGATTTCTTTCTTTCTTTTTAAAAATTAGCTGTGTGACCTTGGGCAAGTTACTTGTCCCCTCTGTGCCTTGGTGCCCTCATCTGTAAAATAGCCGTAATACTAGTGCTTACTTCACAAAATCATGAGACCCAAGACTTAATTTATGCCTGGCTCATGATAGGGGCTCCAAAAAGTTAGTTATTGAAATTATGAATTGCAGGCCTTATCAGAGCCTTGAATGTGCCAATGGGATGTGCCAGTTAACCTCTTAATAAGTGGAGCCAATAATAAATAGTTCATAAGGTTGTGTGAATGGCAGCAGAGCTGAGTGGTTAAGAACAAGGAGGCTAGAGCCAGTGTCTGGGCTCAAACTCCAGCTCTCCCACTGGCTTGCTGTGTGACCTTGGGCAGGTGAATTCACGTCTCTGGACCTCAGTTTTTTCATCTGTCAAATGGAGCTAAGCATAGTAACAACCTCAGAGAAATTAAAAAAAATTTTAAGGCACTCAGAACAGTGCCTGGCACTGAGTAGATACCACATAAGTGTTTCCTTAGTAAAATCGATAAGTCAACTAAATAAAAAAGTACTTTAAAGGTACTTTTATTTATTACTACCCAGGGTGAGTTGCCAAGAGGCAGATTATAGAAAGCAGCTTCTCCCCCATCTTATCTGACATGATCCTTCATTGTCAAGAAGCATTTTGAGCGGTCAGGCTTTCAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTNNNN
|
pathogenic
| 300,042 |
Considering the variant on chromosome 19, location 13286522, involving gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
TCAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCA
|
TCAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCAN
|
pathogenic
| 300,047 |
Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) variant at chromosome position 13286523 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
CAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCAT
|
CAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCA
|
pathogenic
| 300,048 |
Does the genetic variant at chromosome 19, position 13286523, impacting gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2', 'Inborn_genetic_diseases']
|
CAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCAT
|
CAAGAAATATCCCTGGGAGACATTCAATTCTAAAACAACCTCCGAGCCACTACGACATTCATGGGATAAATTTCTCCCCTAAATAGTCTATCCATTTCAAAGATGCCCAAGACAGAAGGCCATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCATN
|
pathogenic
| 300,049 |
Considering the variant on chromosome 19, location 13286644, involving gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
ATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCATTATCCAGATGAGGATACTGAGGCCCCAGGAGAGATCCCACAGCCTCAAACCTCCCATCAACCCCTGCCTCTCCAAGCCATGGACACCTGGGCCCTGCCTCTTGCCATCTACAGGTGGACAA
|
ATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCATTATCCAGATGAGGATACTGAGGCCCCAGGAGAGATCCCACAGCCTCAAACCTCCCATCAACCCCTGCCTCTCCAAGCCATGGACACCTGGGCCCTGCCTCTTGCCATCTACAGGTGGACA
|
pathogenic
| 300,057 |
Clinically, how would you classify the variant at chromosome 19, position 13286644, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['CACNA1A-related_disorder', 'Episodic_ataxia_type_2']
|
ATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCATTATCCAGATGAGGATACTGAGGCCCCAGGAGAGATCCCACAGCCTCAAACCTCCCATCAACCCCTGCCTCTCCAAGCCATGGACACCTGGGCCCTGCCTCTTGCCATCTACAGGTGGACAA
|
ATGGAACTCAGACACTATCCGCCCAGAATCTAAACCCTTACAGAGTCTAGGTTAGAAACAGAGTTCAGGTCCTAGGGCTGCCACGTGCAGTTGTTCAGGCTGTGTACTGCACAAGGCAGCCATTTCTAAGGGGGTGCCTCTTACATCACAGTGAAGATTTGTTTATTTATGACAAATTTATTTGTTGTTTAGGACAAATTTATTTGTTTATTTATGACAAATTTGTTTATTTATTGTCATAAATAACAATGATTTTCTAGTGGATGGCAGGACAGGGGTCTCTTCCAACAAAGTATATTGTGACAAATCATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCATTATCCAGATGAGGATACTGAGGCCCCAGGAGAGATCCCACAGCCTCAAACCTCCCATCAACCCCTGCCTCTCCAAGCCATGGACACCTGGGCCCTGCCTCTTGCCATCTACAGGTGGACAAN
|
pathogenic
| 300,058 |
Regarding the variant at chromosome 19 and position 13286952, affecting gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Inborn_genetic_diseases']
|
CATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCATTATCCAGATGAGGATACTGAGGCCCCAGGAGAGATCCCACAGCCTCAAACCTCCCATCAACCCCTGCCTCTCCAAGCCATGGACACCTGGGCCCTGCCTCTTGCCATCTACAGGTGGACAAAGACTCACTTAGTAGCCCATCTGATGCCTTCTGGACTACAGACCCCTGGACAACACAGCCCTGGTTTCCCATAAATCTATCTAGAAAGAATAAATAAATAAATAAGTAATAAATAAAAGGCTGGCTTTCCCCAGAGGGCTTCCCACTGGCTAAACTACCAGCACCATTCTCCTCATTTTATTTTTGCATTTTAACTTGCAAAAACCCACGGTGTTTTTAGTAAGTGGAAGAGAGACAAGCTAATTTATTTTCAGACCAAAGTAGGTAAGTGGGATGCTTCTATGAATACTTCCCGGAAGGAGAAACCG
|
CATCTTACCTGACTTACGGAAGGAGCATCCATTTTCAACTTGTTCAAAGGTATCCCTGGACTCATGGTGGTCAACACTCACTCATTGCCCTCTATCTGGCCTGACTTCCGCCACCCTGGTGGGAGCCCCAGGCCCCCCCTGCCCTTGCTGGGGGCCATACTCACGGGTTGGTCGTGGACAGGATGAACATGGAGCTATAGGGAGGCATTGGCTTAGGGCCGTCTTCCCCACGGTCGTCTTCCTCCTCCTCCTTCTTCTCTTCCTCTTTTTTTGGCAGTGGGTCTGGGTTGGCGTTTTTGTTCACTGTTGGGACAAGAACCAACACAGGGCTCCCTCCACAATTTCCCACAAGTCTCTGGGAACTCCTGTGTACTCCCAGGGCAGGCAAGAAGCGGCTGACATTTCTAAAGTGCCTGCTGTATATACCAGGCATCTTATGACATCACTGAACCCTTGTATAGCCCTGAGGTTGATATATTCTGATCTCCTGTTTACAGATGAGGAAATTGAGGCACAGAGAAGTAAAGTGACTTGTCTAAGGTCACACAGCAGGAAGTGGCAGAGCTGGCATTTGGAACCCAGGCGGCCTGGCCCCCGAGAGCCTGCTCTCAACCACTCTATAGCCTTGAGTGCGGTGGGGCCCTCATGGGATATTAACACAGACCTGCCCCTATCCTCGTTGGACCTTCACACCCTCACTTGCAGGCAGGTAGGGAGAGTGCCAAGAGACCCACTGAACAGATAGAAATACTGAGACCTCCCATAAACTGCATGGCATGCCCCCATTAGCACCCCTCTCTTGACTCAGGGGGAGGAGCCATCAGCCTCTGGAGCTTCCATTCTGCAGCCCAGCCTGCTTATGTGCCCACGGGCAGGCTGAGCCTCTCTGAGCCTCAGTCCCTACATCTATAAAATGGGCACAGTGACAAGACCTTAGGATCTTAGGTCTCAGGACCATGGAAAGCCTTTATCCAGCAAACTCATGAAAATCTCTCACATAGAACTGACACTAGATGAACTTAAGACATAATCCACCCAGCAGTTCACCATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTTGTCACCCAGGCTGCAGTACAGAGGTGCCATCTTGGCTCACTCTACCTCGGCCTCCTGAAGTACTGGGATTACAGGCATGAGCCAGTACATCTGGCCCCTTTTTTAATGTGGCGACTAGAGAGTTTAAACTGACATTTGCATGTGGCCTGTGTTACATTTCTTTTGGACAGTGCTGGGCCGAGAGAATCAATCATCTGACCCCCTCAAGCTTCCATCAGAGGACCCTATTGCTCCTCAAATGGGGTGGCTTCCTGGCTCCCCTTGGGAAGGAAGGACGTAGAAGATATTGCTAACCCGACTGAACACAACCCCGTGCCAGGCACTGTGCACAAATTATCTCACTGAACCCTCCACAGCCCTGTGGGGTAGGAAACTACGCCTATGCCCATTTTCCAGGGGAGGAGACTGAGGCCAGAGAGATGGGGTCACAGTCCAGGGTCACTCAGCAGAGCCTCTGGCTCCAGGGACGCCAGGTCCCCTGCCCAGTGATGTGAGAGCAGAGGGTCTCACCTTGTACGACGGTGTGGTTGAGGGGGGGTGGGCAGGCTGGGGGGATGTCCACTGTGGTGTGGTCGGGTTTCCTGGCAGTCTTAGCTGAATTGGTCTGGGTGCCGCTGGGGTTGGTGACGATAAGGCTATTCTCGGGGGTCTTGGGGGGGCCGGGATTGGATGGGTTCCCCGGGTTGTTGGGCGTCCGGCGGCTGGCGGCGTTCTGGGGGTTGGTGGCCATGGCAGGGATGGCCAGCATGGGGCCGGGGTCGGTGCTGTTTCCCATCTTGGCTGGGCTCTGGGGCAGGCCGGCGTGGCCAAGGCTGCCGTGGGGAGCGGCCGACTCCGCGGTGGCCAGCTTGTTGTTCTTCATGTTGTCAATATCCTCTGCCAGGGGTGGGTCTTGGCGGCCCAGGTCCTGCTGGATTGGCCGGGTGGTTGACAGGTTGGGGCCCGACACAGGGACCCCGGAAGCCCTGGTTCTCTCTGAGGAAGGCAAGTGAATGAAAAAGAACCAACAACTGATTTAGGATAAAAGGCAACAGTTCAGGATCCTAGCTAAGATTCCATCTTTCAAGAGTACAATTTGGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCGGAGGCAGGAGGATTGCTTAAGGCCAGGAGTTCAAGACCAGCTTGGGCAACATAGTGAGACCCTATTTCTACAAAAAATGTGTAAATTGACGGGCGTGGCGCTGTGTGCCTGTAGTTCTAGCTACTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGTGATCGCCCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACCCTGTCACCAAAAAAACAAAAAAGAAAAGGAAAGGGTACAGTTTGGTCATGGAGAAGTCATGTCCCAGATCCCTGCAGTGCCTGGAATTGAGAGGAGCCTGTTCACTTCTTGGTCAGAGGTCAAGACCTTCACGTGCCCATGGACAGGTTTCCACAACTCCCCATCATCTTATTTCTTTTCTTTCTTTCTTTCTTTTTTCTTGCTCTGTCGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGGCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACTACGACCGGCTAATTTTTTGTATTTCAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCACCTGGCCTCTTTTTTTTTTTTTTTTTCAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCAGGATCATAGCTTACTGCAGCCTTGAACTTCTGGGCTCCAGTGATCCTCCCATCTCAGCCTCCAGGTAGCTGAGGCTACAGGCTCACGCCACCATGTCTGGCTAATTTTACAATTTTTTGTAGAGACTGGCGTCTCACTATGTTGCCCAGGGTGGTCTCAAACTCCTGGCCTCAAGTGATTCTTCCTCCTCGGCCTCCTAAAATGTTGGGATTACAGGCGTAAACCACAATGCCCAGCTTGTTTTTAACTTTCTTATTCTTAGCTGAGTTTTCACTGCCTAGTACAGGGCCTCTCACACAGTCAATGCTGGGTAAACTTACTGTCAAATGATAAATGAATACCCCCATTTTCTTTTTCTTTCTTTCTTTTTCTTTTTTCTTTTTTTTTTTAACTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAACCTCTGCCTCGTGGATTCAAGTGATCCTCGTGCCTCAGCCTCCCGAATAGCTGGGATTACCAGCGTGCACCACAATACCCAGCTAGTTTTTCTATTTTCAGTAGAGACAGGGCTTCGCCATGTTGCCCAGGCTGCTTGAACTCGTGGCCTACAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCCTCCCTAAGTGCTGGATATATAGAGCCACCGTGCCTGGCCAGAATGTCCCCATTATCCAGATGAGGATACTGAGGCCCCAGGAGAGATCCCACAGCCTCAAACCTCCCATCAACCCCTGCCTCTCCAAGCCATGGACACCTGGGCCCTGCCTCTTGCCATCTACAGGTGGACAAAGACTCACTTAGTAGCCCATCTGATGCCTTCTGGACTACAGACCCCTGGACAACACAGCCCTGGTTTCCCATAAATCTATCTAGAAAGAATAAATAAATAAATAAGTAATAAATAAAAGGCTGGCTTTCCCCAGAGGGCTTCCCACTGGCTAAACTACCAGCACCATTCTCCTCATTTTATTTTTGCATTTTAACTTGCAAAAACCCACGGTGTTTTTAGTAAGTGGAAGAGAGACAAGCTAATTTATTTTCAGACCAAAGTAGGTAAGTGGGATGCTTCTATGAATACTTCCCGGAAGGAGAAACC
|
pathogenic
| 300,076 |
A genetic variant at chromosome 19, position 13298647, affecting gene CACNA1A (calcium voltage-gated channel subunit alpha1 A)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
GGCTGGTCTTGAACTCCGGGGCTCAAGTGGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCACATCCCGCTGCATCCAAAGCTTTGAAACTCTGCTCTCCCTTCAATTCTAACGGCCCAAAGTGCCTTTTCTTTTTCTTTATTTTTTATTTTATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAA
|
GGCTGGTCTTGAACTCCGGGGCTCAAGTGGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCACATCCCGCTGCATCCAAAGCTTTGAAACTCTGCTCTCCCTTCAATTCTAACGGCCCAAAGTGCCTTTTCTTTTTCTTTATTTTTTATTTTATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAANNNNNN
|
benign
| 300,079 |
Evaluate the clinical significance of the mutation at chromosome 19, position 13298673 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Spinocerebellar_ataxia_type_6']
|
GTGGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCACATCCCGCTGCATCCAAAGCTTTGAAACTCTGCTCTCCCTTCAATTCTAACGGCCCAAAGTGCCTTTTCTTTTTCTTTATTTTTTATTTTATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTGAC
|
GTGGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCACATCCCGCTGCATCCAAAGCTTTGAAACTCTGCTCTCCCTTCAATTCTAACGGCCCAAAGTGCCTTTTCTTTTTCTTTATTTTTTATTTTATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTG
|
pathogenic
| 300,083 |
Considering the genetic mutation at chromosome 19, position 13298703, impacting CACNA1A (calcium voltage-gated channel subunit alpha1 A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant', 'Episodic_ataxia_type_2', 'Migraine,_familial_hemiplegic,_1', 'Spinocerebellar_ataxia_type_6']
|
GCTGGGACTACAGGCATGAGCCACCACATCCCGCTGCATCCAAAGCTTTGAAACTCTGCTCTCCCTTCAATTCTAACGGCCCAAAGTGCCTTTTCTTTTTCTTTATTTTTTATTTTATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTGACCCTGTTGCTGACCAGGGGCAACATTTGAAA
|
GCTGGGACTACAGGCATGAGCCACCACATCCCGCTGCATCCAAAGCTTTGAAACTCTGCTCTCCCTTCAATTCTAACGGCCCAAAGTGCCTTTTCTTTTTCTTTATTTTTTATTTTATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTGACCCTGTTGCTGACCAGGGGCAACATTTGAAANNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 300,086 |
The chromosome 19, position 13298779 genetic variant in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
CGGCCCAAAGTGCCTTTTCTTTTTCTTTATTTTTTATTTTATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTGACCCTGTTGCTGACCAGGGGCAACATTTGAAATATTTCGACCAATCAGAACCAAGGCTCCCCAATTGGAATGGGTACCTGCTATTGGTTAAGTGTATTGCTATCCCCT
|
CGGCCCAAAGTGCCTTTTCTTTTTCTTTATTTTTTATTTTATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTGACCCTGTTGCTGACCAGGGGCAACATTTGAAATATTTCGACCAATCAGAACCAAGGCTCCCCAATTGGAATGGGTACCTGCTATTGGTTAAGTGTATTGCTATCCCCTNNNNNNNNNN
|
pathogenic
| 300,091 |
Clinically, how would you classify the variant at chromosome 19, position 13298818, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
TATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTGACCCTGTTGCTGACCAGGGGCAACATTTGAAATATTTCGACCAATCAGAACCAAGGCTCCCCAATTGGAATGGGTACCTGCTATTGGTTAAGTGTATTGCTATCCCCTCTGTGTATAAGTTTGACATCTAACTCATTATGAAGCCTA
|
TATTTTTTGAGACAAAGCCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTGACCCTGTTGCTGACCAGGGGCAACATTTGAAATATTTCGACCAATCAGAACCAAGGCTCCCCAATTGGAATGGGTACCTGCTATTGGTTAAGTGTATTGCTATCCCCTCTGTGTATAAGTTTGACATCTAACTCAT
|
pathogenic
| 300,096 |
Gene mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) at chromosome 19, position 13298894—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
ACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCGGGTTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTGACCCTGTTGCTGACCAGGGGCAACATTTGAAATATTTCGACCAATCAGAACCAAGGCTCCCCAATTGGAATGGGTACCTGCTATTGGTTAAGTGTATTGCTATCCCCTCTGTGTATAAGTTTGACATCTAACTCATTATGAAGCCTATTTTAACACACAGCCAGATAACAAAAAATAAAAATGTCCCTTCTCTTCCTACAATGAAGACTTTCCTGCAGCCTAT
|
ACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTACCTCATTCAATCCTGGCAATGACCCAATTAGATCCCACTATTTCCATTGTGTGAGGCCCAGAGATATGAAGTCACTTTGCAAAAGTCACACAGCAAGAACACAGAAGACTATATAATTCTGGACGACAGTGGGGCTTCTCTTAATAGTTTCCCTGAAATGCTCAAGGCCTCTGGTGCCAGAGAGCCTGGGTTCAAGGACACTGGTTAGAGGAATGACCTTGAGGAGCTCACTCAATCTCTCAGTTTCCCCATCTGTGAAGCCTCTAATCCGAACACTTTGGGAGACTGAGGTGGGATGATTGCTTGAGGCCAGGAGTTGGGGACCAGCCTGGGCAACAGAGCCAGGCCTCATTTCTACTAAAGGTAAAAAAATTAGGCTGAGTGTGGTGGCTCAACCCTGTAGTCCCAGCACTTTAGGGAGGCTAAGGCAGGCGGAATGCTTGAGTTCAGGAGTTTGAGACCAGCCTGGGAAACACAGTGAAACCCTGTCTCTACAAAACACTGTCTCTACAAAAATTAGCCAGGCATGTGGCACATGTCTGTGGTCCCAGCTACTTGTGAGGCTGAGGCGGATGGCTTGAGCCCGGGAGGTAGAGGCTGCACTGAGCTATGACTGCCACTGCACTCCAGCCTGGGCAACAGGCGAGACCCTGTGTCAAAAAAACAAAAACATACAGCATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGTGATGGCACGATCTCAGCTCACTGCAACCTACCTCCACCTCCCAGGTTCAACTGATTCTCCCGCCTCAGCCTCCTGAGTAGTGGGAATACAGGTGGGCACCACCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCTGGCCAAATACAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCATTGCAACCTCCGCCCCCTGTTTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGCTACAGGCGCCTGCCACCGTGCCCGGCTAATTTTTGTATTTTTATTAGAGGTGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAATACAGCATTTTATAATATATTTTTATAAACAAATACACAGCACGTGCTACTTTGGCTGTTGTCATTATTAATGTTACCGTCATTCTGCGGATTCGAGGTCACCTCCACTTACTTCCTCCTCCGATGCCTCCGCTCCTTGTCCTCCCTCCGCGCGTCCCCCTCGTACGTGGCTGGAGCGCCATGCCGGTGCCTTCTCCTGCGCTCGCCCCCGTCGGGGCCCTCGCCCTCGCCCTCGCCGCCCCGGGCCGGCCGGCTGCCCTCGCGGTGCCGCGCCCTCCGCTCCGCCTTGTCCTCCGGACCCTCCTCCCCGGGCCTGCGGTGCGCGCGATGACGTCGATGCTCCCCGTCCGCGCCCGTGCGCGGGGACCCGCTGCGGCTCTCCCTGCTGCCCCCCTGCCGGTGCACGTGCCTCCGGTGGGGGTCCCCGGCCTTGCCTCGCTCGGCCTCGCCCTCCCAGAACCCAGATTGCTCCAGGCTGCCCTCCCGGGCGTGGTGGTCCGACTCGCGGCCGTAGGGTCCCTCCCGGCTCAGCTCGGCCTCCTGGCTTCCCGCCCAGGGCCTCCGTGCGTCCAGGCCCGCCGAGCCGCTGGGGTCCCGGGCCCGATCGTGGTAGCGGGCCTGTTTCCTGAGGAAGTCCTCGGCGCGCTGCTGGCCGAGGCGCTGGTCCACGGTGGGCTCGGCCGCCCGGCTCTTGTTGGTGTTGTTGTTGCGGTTCTCCTGCGGGTCCACCACCAGCGGCCGGTCCAAGTGCGTCTTCATGTCTGGCCGCAGGTGCCGCGTGTAGGCAGCCTTCCAGCGCTCGTCCGGGTCCATTTCGTTATACAGGGCCTCCCGGCTGGCCAGCAAGTTCTGCTTTCGCATCTCACTGGTCCGCTGCTCCCACACGGACTTGGCTGGCTTTTGATTCTTCTGTTGCTCTTTCCTGCAGTGGCATGGTCACAGGACTTAGAGCATTGCTAGGCACTGTAGCTTGGATGGATGACCCAGGCGAACCAACCCACATCTCAGCCTCCCACTCCTGCTCTCCACCCTCTACTCCCCACTGAATGCTAGGAGTCTGTGAGCATCTGAGTCAGGTCCCAGCCTCCTCTGCTCAAGAACCCTCCATGGCTCCCACCTGGCTAGGGGCAAAAGCCCAAGTCCTCCCCCCTGACCCAGAAGGCCCTGTGTAATCTGCTTGTCACCTCCTTGCCTTCACCTCCTCACACTTACTATTCGATTCTAGTCACACAGGCCTCCTTCACATCAGGCATGTTCCTGCCTCAGGGCCATTGCCTATGCTGTTCCCTCTGCCTGGGATGCCCTTCCCCAGGCCCCCCAGTGGCTCCTCCCTCACCTCCTTCAGGCCATGTAACCTTCTAGGTGAGCAGTCCCCAACCTTTTTGGCACCAGGGGCCAGTTTTGTGGAAGACAGTTTTTCCACAGACCTAGGTGTGGGGGGTGGTTTTGGGATGAAACTGTTTCACCTGAGATCATCAGGCATTCGATTCTTAAAAGGAGCACGCAACCTAGATCCCTCAGATGCACCGTTCACAATAGTGTTTGTGTTCCTATGAGAATCTAATGCTGCCTGCTGATCTGACGGCAGGTGGAGCTCAGGCGGTAATGCTTGCTTGCTCACTGTTCACCTCCTGCTGTGCAGCCCCGTTCCTAATAGGCCTCGGCCTGGTACCAGTCCACAGCCCCGGGACTGGGGACCCCTATTCTAGGTGATGCCTTCCCTGACAACTTCGTTTAAAATCACAACTCTCTTCACTCCCAGCATTTGCTATTTCCCTCCCCTACTTTCTCTGTAGTTCCATCGCCTTCTAACACAATATATAATTTACTTATTTATCTAATTTATTGACTCCTTCCCTTGCTAGAATGGCTACACACAGGTGGGATTTTTTTTTTCCTCCTTGTTAATGCTGTATCCCCAGAAGTTAGAACAGTGCTGGGTACATAACAGCTGCTAACCAAATATTTATTGAGTGAAAGTGGGTGGAAGGACAAGAAGTGTCTCTTCCTAAAGCTCAGTTCTGTCAAGGACCACCCCCACTGCTTCCCAAATCTGTGCCTGGGATAGTGTGGACGTTCAGGAGCCAGGGTAGCATCCCAGGGATTAGGGGCACTTACACAGCTATAGACATGTTGGCCGCGGACAGAGGACTCACTTCTGCCACCTCCTTGGCTTTCTGTAGGGCAAGTTTCTGGTTCGCTGCTTCTTCTTCCTCTTGCTCGTCCTAAAAGGCACGTGGAATCTTTGTTCACAAAACATGAACTAGGCCTTGGGGACTCACTTCTGACCCTGTTGCTGACCAGGGGCAACATTTGAAATATTTCGACCAATCAGAACCAAGGCTCCCCAATTGGAATGGGTACCTGCTATTGGTTAAGTGTATTGCTATCCCCTCTGTGTATAAGTTTGACATCTAACTCATTATGAAGCCTATTTTAACACACAGCCAGATAACAAAAAATAAAAATGTCCCTTCTCTTCCTACAATGAAGACTTTCCTGCAGCCTAT
|
benign
| 300,106 |
Clinically, how would you classify the variant at chromosome 19, position 13303830, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Bulbar_palsy', 'CACNA1A-related_disorder', 'Developmental_and_epileptic_encephalopathy,_42', 'Epileptic_encephalopathy', 'Episodic_ataxia_type_2', 'Inborn_genetic_diseases', 'Recurrent_respiratory_infections']
|
GAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACAT
|
GAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATNN
|
pathogenic
| 300,148 |
Chromosome 19, position 13303831, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
AACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATA
|
AACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAN
|
pathogenic
| 300,149 |
Clinically, how would you classify the variant at chromosome 19, position 13312689, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2', 'Migraine,_familial_hemiplegic,_1', 'Spinocerebellar_ataxia_type_6']
|
ATGTGGCTGCTGTTGGTGGACTTTGATTGTCACAGAGTATTTCATTATATAGATATGCCACAAAATATTTATCTGTTCTACAGCAAAGGGATACACGGATATTGAGACTTGGAACTATTACAAACAAGGTTGCTCAGGACATTTTAAAATTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACGACGCCTGGCTAATTTTTGTATTTTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCCGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCTGGCCTACTTTTATTTCTTAGAGATGGGGTCTCACTCTCTTGTCCAGGCTGGAGGGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTGCTGGGCTCAAGCAATCCTCCCACCTTAGCCTTCTGAGTAGCTGGGGCTACAGGTGTGCACCACCACACCTGGCTAATTATTATTAATTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTGGGCTGGTTTTCAACTCCTGGGCTCAAGCAATTCTGCTGCCTCAGCCTCCTGAATAGCTGAGGCTATAGGCATGAGGCATCACACCCGGCTTTCTTTTCTTTTTAATGGAAAGAAATTGGTTTTATTCTTTAACTACTTGGGTCATTTATGTAGGGAAGGTTTGCTTGTTTGTATGTATTTTGTTTTCTCCAACAACATAATTTTCTATAATGGCAGAAAACAGTACAACATTCAGTTATTATAAATTATTAAGCTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAACAAAAAATAAAAACAAAAAATAAAAAAAAATAAATAAATTATTAAGCCTTTCTGAGACCAACAGGACTATGGTAAATGATTAGGGCTGCCCTGGGCCAGGCATTCTCCACTTATTTGCGAACAACCTTAATTTCACTTCCAGCTGCAGGGACATTCTGGCCTGTGTCTCCTAGGTATCTGGGTGAGATTTTCTAGGATGAATTCCTAGCAATGGAATGCTGGGTCATATCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATTGGACGTAGATTATTCTCCAGGACTTAGGTTTTGTGTGGACTAGTGGGTTACTGGGTGTTAATCACATTTAAAAAATAAATTAATTAACTGAGTAATTCACAAAATAACAAAGGACCATAATGGCTCCATAATGCCAGGGTGTTGTAATCTAACAATTATACTTCATCTACCTCCACATGACTGAGCTACAAAGGAAAAGAAGAAATAGAAATCATATTGATGTCCTGTTTGTAATCCTGAAGTTGGGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGCATGGCTTTTCTCCCAACTTGGAAAACTTGTCTTATGTCCCCCACTTAGCTTTCCAAAGGGGGTCTATACGTTTTCCTCCCACTGGCGGTGGTTGAGGGTTCTGGGTACACTGTATCCTTGCCAGTGTTTGGGATTGTTTTCTCATTCCTTCTGCATCCATCTGAGTCTCTCATATTCAGGGGTGACTTTACCTTTCTCCCTTTAATGTGTCCAGGTATCTGTCATTCCAGGCAAGAGCTGGAGAAATGAACTCTTAGAAACAAGAGCACTTACCCCACAGTCAAAGCAGTTGAAGGAAGAGTGGAAGTAAGGCCGCGTCCCAAGCCCGTACATTTTTATAAACATTTCGGACATAAAGAGTCCTAAGAAAATGAATTCTGCATAGTCTAGAAGGGAGAAGGAGGAAACAGAGAGGAGGTTAGGCTTGCTGAGGGTAGGGGTTCCAGGTGGCTCTGACTTTCCTTTTATTATCATTTTTAAACTTTTTATTTTTTGTAGAGATGAGGTCTTGCTATGCTGTTAGGCTGGTTTCAAACTCCTGGCCTCAAACAGTTTCCCTGATTTGGCCTCCAACATGCTAGAACTACAGGCATGTGTCACCACACCCAACTTCTGACTTATCTTTTTTCTTTTTAAAATTTTTATGTGGAGATGGGGGTCTCACTATGTTGCCCTGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCAGCACAGCCTCCCAAAGTGCTGGGATTATATACATGACCCACTGTGGCCACGCCCTGTCCAAGGTGTCCTTCCCATGGGCCTCAGTTTCCCCTCTGTTAAAAAGGAAGAGCTGGCTGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGTCAGATCAACTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGCAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGTGTGGTGACACATGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGGGCCACCCTACTGTAGCCTGGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAAAAAAAAAAAAAGCAACAATTATGCCCTACCCTCCAACCAACAAGCTAACCAACCTTAGGCCGATTTTAAAAGGAATGAGAAAAATATCAGTGGGTCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATCGGATATAGATTATTGCCAAGGACTTTTGTGTTGACTGGTGGGTTCCTGGGTGTTTATCACATTTAAAAAATAAACTAATTAACTGAATAATTCACATAATAACAATGGACCATAACGGCCCCATAATGCCAGGGTGCTGTGATCTAACAATTATATTTAATCTACTTCTACGTGACTGAGCTCCAAAGGATAAAAGGAAATAGAAATCATAATGATATCCTATTTGTAATCCTGAAGTTAAGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGTATGGCTTTTCTCCTAACTCAGAAAACTTGTCTTATGTCCCCTAGAAATCCTGTGTTGTGAGTGACCTAAAAAGTCTTGAGTAAGACAAAGCCTTTTGTTCTTTGATGAGCAAGCATAAAATTGCAAATGCCTCAGGGAGGGGTAAAACATGGATATGCATTTGCTCCAGCAAATAAATGGCTGACATCAGATCCTTTTCTGAGAGGGCTTTCTTGGTAGGGTAGGAAGATGAGGAGTTAGGAAGGGCGTGGGTACTTAATGGATAGAAAGGAGAGATGAGGAGGGTTTCTGAGGAGCAGAAAGCATACAGAAAGGAAAGAGACAGAGGACTGAAACTAACTTCCATGAATTTCATATAGCTAATTAAGGCCACAAAGCTAATTGTGTTTGGTGGTTGTGATGGTTTAAATGTTTGTGTCCCCTCCAAAATTCACGTTGAAACTTAATTGCCAATGTAACAGTATTAAGAGGTGGGGCCTTCAGGAGGTGATTAAGTCATTACGGTAGAGCTCTCATGAATGGGATTAGGTGCCCTTATAAAAGAGGTTGACAGAGGAAGTTTGTCCCTCTTGCTCCTCCACCTTCTGCCATGTAAGGACCCAGTGTTCCTCCCTTCCAGAGGATACAGTGTTCAAGGTGCAATCTTGGAAGCAGAGAGTAGCTTTCGCCAGACAGGGAAACCTGCCAATGCCTTGATCTTGGGCTTCCCAGCCTCCAGAACTGTGAGAAAATAAATTTCTGTTCTTATCAAATTACCCAGTCTCGGGTAATTTGTTATAGCAGTACAAATGAACTAAGATATTTGCCAAGG
|
ATGTGGCTGCTGTTGGTGGACTTTGATTGTCACAGAGTATTTCATTATATAGATATGCCACAAAATATTTATCTGTTCTACAGCAAAGGGATACACGGATATTGAGACTTGGAACTATTACAAACAAGGTTGCTCAGGACATTTTAAAATTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACGACGCCTGGCTAATTTTTGTATTTTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCCGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCTGGCCTACTTTTATTTCTTAGAGATGGGGTCTCACTCTCTTGTCCAGGCTGGAGGGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTGCTGGGCTCAAGCAATCCTCCCACCTTAGCCTTCTGAGTAGCTGGGGCTACAGGTGTGCACCACCACACCTGGCTAATTATTATTAATTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTGGGCTGGTTTTCAACTCCTGGGCTCAAGCAATTCTGCTGCCTCAGCCTCCTGAATAGCTGAGGCTATAGGCATGAGGCATCACACCCGGCTTTCTTTTCTTTTTAATGGAAAGAAATTGGTTTTATTCTTTAACTACTTGGGTCATTTATGTAGGGAAGGTTTGCTTGTTTGTATGTATTTTGTTTTCTCCAACAACATAATTTTCTATAATGGCAGAAAACAGTACAACATTCAGTTATTATAAATTATTAAGCTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAACAAAAAATAAAAACAAAAAATAAAAAAAAATAAATAAATTATTAAGCCTTTCTGAGACCAACAGGACTATGGTAAATGATTAGGGCTGCCCTGGGCCAGGCATTCTCCACTTATTTGCGAACAACCTTAATTTCACTTCCAGCTGCAGGGACATTCTGGCCTGTGTCTCCTAGGTATCTGGGTGAGATTTTCTAGGATGAATTCCTAGCAATGGAATGCTGGGTCATATCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATTGGACGTAGATTATTCTCCAGGACTTAGGTTTTGTGTGGACTAGTGGGTTACTGGGTGTTAATCACATTTAAAAAATAAATTAATTAACTGAGTAATTCACAAAATAACAAAGGACCATAATGGCTCCATAATGCCAGGGTGTTGTAATCTAACAATTATACTTCATCTACCTCCACATGACTGAGCTACAAAGGAAAAGAAGAAATAGAAATCATATTGATGTCCTGTTTGTAATCCTGAAGTTGGGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGCATGGCTTTTCTCCCAACTTGGAAAACTTGTCTTATGTCCCCCACTTAGCTTTCCAAAGGGGGTCTATACGTTTTCCTCCCACTGGCGGTGGTTGAGGGTTCTGGGTACACTGTATCCTTGCCAGTGTTTGGGATTGTTTTCTCATTCCTTCTGCATCCATCTGAGTCTCTCATATTCAGGGGTGACTTTACCTTTCTCCCTTTAATGTGTCCAGGTATCTGTCATTCCAGGCAAGAGCTGGAGAAATGAACTCTTAGAAACAAGAGCACTTACCCCACAGTCAAAGCAGTTGAAGAAGAGTGGAAGTAAGGCCGCGTCCCAAGCCCGTACATTTTTATAAACATTTCGGACATAAAGAGTCCTAAGAAAATGAATTCTGCATAGTCTAGAAGGGAGAAGGAGGAAACAGAGAGGAGGTTAGGCTTGCTGAGGGTAGGGGTTCCAGGTGGCTCTGACTTTCCTTTTATTATCATTTTTAAACTTTTTATTTTTTGTAGAGATGAGGTCTTGCTATGCTGTTAGGCTGGTTTCAAACTCCTGGCCTCAAACAGTTTCCCTGATTTGGCCTCCAACATGCTAGAACTACAGGCATGTGTCACCACACCCAACTTCTGACTTATCTTTTTTCTTTTTAAAATTTTTATGTGGAGATGGGGGTCTCACTATGTTGCCCTGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCAGCACAGCCTCCCAAAGTGCTGGGATTATATACATGACCCACTGTGGCCACGCCCTGTCCAAGGTGTCCTTCCCATGGGCCTCAGTTTCCCCTCTGTTAAAAAGGAAGAGCTGGCTGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGTCAGATCAACTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGCAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGTGTGGTGACACATGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGGGCCACCCTACTGTAGCCTGGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAAAAAAAAAAAAAGCAACAATTATGCCCTACCCTCCAACCAACAAGCTAACCAACCTTAGGCCGATTTTAAAAGGAATGAGAAAAATATCAGTGGGTCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATCGGATATAGATTATTGCCAAGGACTTTTGTGTTGACTGGTGGGTTCCTGGGTGTTTATCACATTTAAAAAATAAACTAATTAACTGAATAATTCACATAATAACAATGGACCATAACGGCCCCATAATGCCAGGGTGCTGTGATCTAACAATTATATTTAATCTACTTCTACGTGACTGAGCTCCAAAGGATAAAAGGAAATAGAAATCATAATGATATCCTATTTGTAATCCTGAAGTTAAGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGTATGGCTTTTCTCCTAACTCAGAAAACTTGTCTTATGTCCCCTAGAAATCCTGTGTTGTGAGTGACCTAAAAAGTCTTGAGTAAGACAAAGCCTTTTGTTCTTTGATGAGCAAGCATAAAATTGCAAATGCCTCAGGGAGGGGTAAAACATGGATATGCATTTGCTCCAGCAAATAAATGGCTGACATCAGATCCTTTTCTGAGAGGGCTTTCTTGGTAGGGTAGGAAGATGAGGAGTTAGGAAGGGCGTGGGTACTTAATGGATAGAAAGGAGAGATGAGGAGGGTTTCTGAGGAGCAGAAAGCATACAGAAAGGAAAGAGACAGAGGACTGAAACTAACTTCCATGAATTTCATATAGCTAATTAAGGCCACAAAGCTAATTGTGTTTGGTGGTTGTGATGGTTTAAATGTTTGTGTCCCCTCCAAAATTCACGTTGAAACTTAATTGCCAATGTAACAGTATTAAGAGGTGGGGCCTTCAGGAGGTGATTAAGTCATTACGGTAGAGCTCTCATGAATGGGATTAGGTGCCCTTATAAAAGAGGTTGACAGAGGAAGTTTGTCCCTCTTGCTCCTCCACCTTCTGCCATGTAAGGACCCAGTGTTCCTCCCTTCCAGAGGATACAGTGTTCAAGGTGCAATCTTGGAAGCAGAGAGTAGCTTTCGCCAGACAGGGAAACCTGCCAATGCCTTGATCTTGGGCTTCCCAGCCTCCAGAACTGTGAGAAAATAAATTTCTGTTCTTATCAAATTACCCAGTCTCGGGTAATTTGTTATAGCAGTACAAATGAACTAAGATATTTGCCAAGGN
|
pathogenic
| 300,186 |
Does the chromosome 19 mutation at position 13312702 within gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Inborn_genetic_diseases', 'Spinocerebellar_ataxia_type_6']
|
TGGTGGACTTTGATTGTCACAGAGTATTTCATTATATAGATATGCCACAAAATATTTATCTGTTCTACAGCAAAGGGATACACGGATATTGAGACTTGGAACTATTACAAACAAGGTTGCTCAGGACATTTTAAAATTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACGACGCCTGGCTAATTTTTGTATTTTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCCGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCTGGCCTACTTTTATTTCTTAGAGATGGGGTCTCACTCTCTTGTCCAGGCTGGAGGGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTGCTGGGCTCAAGCAATCCTCCCACCTTAGCCTTCTGAGTAGCTGGGGCTACAGGTGTGCACCACCACACCTGGCTAATTATTATTAATTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTGGGCTGGTTTTCAACTCCTGGGCTCAAGCAATTCTGCTGCCTCAGCCTCCTGAATAGCTGAGGCTATAGGCATGAGGCATCACACCCGGCTTTCTTTTCTTTTTAATGGAAAGAAATTGGTTTTATTCTTTAACTACTTGGGTCATTTATGTAGGGAAGGTTTGCTTGTTTGTATGTATTTTGTTTTCTCCAACAACATAATTTTCTATAATGGCAGAAAACAGTACAACATTCAGTTATTATAAATTATTAAGCTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAACAAAAAATAAAAACAAAAAATAAAAAAAAATAAATAAATTATTAAGCCTTTCTGAGACCAACAGGACTATGGTAAATGATTAGGGCTGCCCTGGGCCAGGCATTCTCCACTTATTTGCGAACAACCTTAATTTCACTTCCAGCTGCAGGGACATTCTGGCCTGTGTCTCCTAGGTATCTGGGTGAGATTTTCTAGGATGAATTCCTAGCAATGGAATGCTGGGTCATATCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATTGGACGTAGATTATTCTCCAGGACTTAGGTTTTGTGTGGACTAGTGGGTTACTGGGTGTTAATCACATTTAAAAAATAAATTAATTAACTGAGTAATTCACAAAATAACAAAGGACCATAATGGCTCCATAATGCCAGGGTGTTGTAATCTAACAATTATACTTCATCTACCTCCACATGACTGAGCTACAAAGGAAAAGAAGAAATAGAAATCATATTGATGTCCTGTTTGTAATCCTGAAGTTGGGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGCATGGCTTTTCTCCCAACTTGGAAAACTTGTCTTATGTCCCCCACTTAGCTTTCCAAAGGGGGTCTATACGTTTTCCTCCCACTGGCGGTGGTTGAGGGTTCTGGGTACACTGTATCCTTGCCAGTGTTTGGGATTGTTTTCTCATTCCTTCTGCATCCATCTGAGTCTCTCATATTCAGGGGTGACTTTACCTTTCTCCCTTTAATGTGTCCAGGTATCTGTCATTCCAGGCAAGAGCTGGAGAAATGAACTCTTAGAAACAAGAGCACTTACCCCACAGTCAAAGCAGTTGAAGGAAGAGTGGAAGTAAGGCCGCGTCCCAAGCCCGTACATTTTTATAAACATTTCGGACATAAAGAGTCCTAAGAAAATGAATTCTGCATAGTCTAGAAGGGAGAAGGAGGAAACAGAGAGGAGGTTAGGCTTGCTGAGGGTAGGGGTTCCAGGTGGCTCTGACTTTCCTTTTATTATCATTTTTAAACTTTTTATTTTTTGTAGAGATGAGGTCTTGCTATGCTGTTAGGCTGGTTTCAAACTCCTGGCCTCAAACAGTTTCCCTGATTTGGCCTCCAACATGCTAGAACTACAGGCATGTGTCACCACACCCAACTTCTGACTTATCTTTTTTCTTTTTAAAATTTTTATGTGGAGATGGGGGTCTCACTATGTTGCCCTGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCAGCACAGCCTCCCAAAGTGCTGGGATTATATACATGACCCACTGTGGCCACGCCCTGTCCAAGGTGTCCTTCCCATGGGCCTCAGTTTCCCCTCTGTTAAAAAGGAAGAGCTGGCTGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGTCAGATCAACTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGCAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGTGTGGTGACACATGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGGGCCACCCTACTGTAGCCTGGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAAAAAAAAAAAAAGCAACAATTATGCCCTACCCTCCAACCAACAAGCTAACCAACCTTAGGCCGATTTTAAAAGGAATGAGAAAAATATCAGTGGGTCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATCGGATATAGATTATTGCCAAGGACTTTTGTGTTGACTGGTGGGTTCCTGGGTGTTTATCACATTTAAAAAATAAACTAATTAACTGAATAATTCACATAATAACAATGGACCATAACGGCCCCATAATGCCAGGGTGCTGTGATCTAACAATTATATTTAATCTACTTCTACGTGACTGAGCTCCAAAGGATAAAAGGAAATAGAAATCATAATGATATCCTATTTGTAATCCTGAAGTTAAGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGTATGGCTTTTCTCCTAACTCAGAAAACTTGTCTTATGTCCCCTAGAAATCCTGTGTTGTGAGTGACCTAAAAAGTCTTGAGTAAGACAAAGCCTTTTGTTCTTTGATGAGCAAGCATAAAATTGCAAATGCCTCAGGGAGGGGTAAAACATGGATATGCATTTGCTCCAGCAAATAAATGGCTGACATCAGATCCTTTTCTGAGAGGGCTTTCTTGGTAGGGTAGGAAGATGAGGAGTTAGGAAGGGCGTGGGTACTTAATGGATAGAAAGGAGAGATGAGGAGGGTTTCTGAGGAGCAGAAAGCATACAGAAAGGAAAGAGACAGAGGACTGAAACTAACTTCCATGAATTTCATATAGCTAATTAAGGCCACAAAGCTAATTGTGTTTGGTGGTTGTGATGGTTTAAATGTTTGTGTCCCCTCCAAAATTCACGTTGAAACTTAATTGCCAATGTAACAGTATTAAGAGGTGGGGCCTTCAGGAGGTGATTAAGTCATTACGGTAGAGCTCTCATGAATGGGATTAGGTGCCCTTATAAAAGAGGTTGACAGAGGAAGTTTGTCCCTCTTGCTCCTCCACCTTCTGCCATGTAAGGACCCAGTGTTCCTCCCTTCCAGAGGATACAGTGTTCAAGGTGCAATCTTGGAAGCAGAGAGTAGCTTTCGCCAGACAGGGAAACCTGCCAATGCCTTGATCTTGGGCTTCCCAGCCTCCAGAACTGTGAGAAAATAAATTTCTGTTCTTATCAAATTACCCAGTCTCGGGTAATTTGTTATAGCAGTACAAATGAACTAAGATATTTGCCAAGGGTGTTTGCTATGT
|
TGGTGGACTTTGATTGTCACAGAGTATTTCATTATATAGATATGCCACAAAATATTTATCTGTTCTACAGCAAAGGGATACACGGATATTGAGACTTGGAACTATTACAAACAAGGTTGCTCAGGACATTTTAAAATTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACGACGCCTGGCTAATTTTTGTATTTTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCCGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCTGGCCTACTTTTATTTCTTAGAGATGGGGTCTCACTCTCTTGTCCAGGCTGGAGGGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTGCTGGGCTCAAGCAATCCTCCCACCTTAGCCTTCTGAGTAGCTGGGGCTACAGGTGTGCACCACCACACCTGGCTAATTATTATTAATTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTGGGCTGGTTTTCAACTCCTGGGCTCAAGCAATTCTGCTGCCTCAGCCTCCTGAATAGCTGAGGCTATAGGCATGAGGCATCACACCCGGCTTTCTTTTCTTTTTAATGGAAAGAAATTGGTTTTATTCTTTAACTACTTGGGTCATTTATGTAGGGAAGGTTTGCTTGTTTGTATGTATTTTGTTTTCTCCAACAACATAATTTTCTATAATGGCAGAAAACAGTACAACATTCAGTTATTATAAATTATTAAGCTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAACAAAAAATAAAAACAAAAAATAAAAAAAAATAAATAAATTATTAAGCCTTTCTGAGACCAACAGGACTATGGTAAATGATTAGGGCTGCCCTGGGCCAGGCATTCTCCACTTATTTGCGAACAACCTTAATTTCACTTCCAGCTGCAGGGACATTCTGGCCTGTGTCTCCTAGGTATCTGGGTGAGATTTTCTAGGATGAATTCCTAGCAATGGAATGCTGGGTCATATCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATTGGACGTAGATTATTCTCCAGGACTTAGGTTTTGTGTGGACTAGTGGGTTACTGGGTGTTAATCACATTTAAAAAATAAATTAATTAACTGAGTAATTCACAAAATAACAAAGGACCATAATGGCTCCATAATGCCAGGGTGTTGTAATCTAACAATTATACTTCATCTACCTCCACATGACTGAGCTACAAAGGAAAAGAAGAAATAGAAATCATATTGATGTCCTGTTTGTAATCCTGAAGTTGGGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGCATGGCTTTTCTCCCAACTTGGAAAACTTGTCTTATGTCCCCCACTTAGCTTTCCAAAGGGGGTCTATACGTTTTCCTCCCACTGGCGGTGGTTGAGGGTTCTGGGTACACTGTATCCTTGCCAGTGTTTGGGATTGTTTTCTCATTCCTTCTGCATCCATCTGAGTCTCTCATATTCAGGGGTGACTTTACCTTTCTCCCTTTAATGTGTCCAGGTATCTGTCATTCCAGGCAAGAGCTGGAGAAATGAACTCTTAGAAACAAGAGCACTTACCCCACAGTCAAAGCAGTTGAAGGAAGAGTGGAAGTTAAGGCCGCGTCCCAAGCCCGTACATTTTTATAAACATTTCGGACATAAAGAGTCCTAAGAAAATGAATTCTGCATAGTCTAGAAGGGAGAAGGAGGAAACAGAGAGGAGGTTAGGCTTGCTGAGGGTAGGGGTTCCAGGTGGCTCTGACTTTCCTTTTATTATCATTTTTAAACTTTTTATTTTTTGTAGAGATGAGGTCTTGCTATGCTGTTAGGCTGGTTTCAAACTCCTGGCCTCAAACAGTTTCCCTGATTTGGCCTCCAACATGCTAGAACTACAGGCATGTGTCACCACACCCAACTTCTGACTTATCTTTTTTCTTTTTAAAATTTTTATGTGGAGATGGGGGTCTCACTATGTTGCCCTGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCAGCACAGCCTCCCAAAGTGCTGGGATTATATACATGACCCACTGTGGCCACGCCCTGTCCAAGGTGTCCTTCCCATGGGCCTCAGTTTCCCCTCTGTTAAAAAGGAAGAGCTGGCTGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGTCAGATCAACTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGCAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGTGTGGTGACACATGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGGGCCACCCTACTGTAGCCTGGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAAAAAAAAAAAAAGCAACAATTATGCCCTACCCTCCAACCAACAAGCTAACCAACCTTAGGCCGATTTTAAAAGGAATGAGAAAAATATCAGTGGGTCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATCGGATATAGATTATTGCCAAGGACTTTTGTGTTGACTGGTGGGTTCCTGGGTGTTTATCACATTTAAAAAATAAACTAATTAACTGAATAATTCACATAATAACAATGGACCATAACGGCCCCATAATGCCAGGGTGCTGTGATCTAACAATTATATTTAATCTACTTCTACGTGACTGAGCTCCAAAGGATAAAAGGAAATAGAAATCATAATGATATCCTATTTGTAATCCTGAAGTTAAGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGTATGGCTTTTCTCCTAACTCAGAAAACTTGTCTTATGTCCCCTAGAAATCCTGTGTTGTGAGTGACCTAAAAAGTCTTGAGTAAGACAAAGCCTTTTGTTCTTTGATGAGCAAGCATAAAATTGCAAATGCCTCAGGGAGGGGTAAAACATGGATATGCATTTGCTCCAGCAAATAAATGGCTGACATCAGATCCTTTTCTGAGAGGGCTTTCTTGGTAGGGTAGGAAGATGAGGAGTTAGGAAGGGCGTGGGTACTTAATGGATAGAAAGGAGAGATGAGGAGGGTTTCTGAGGAGCAGAAAGCATACAGAAAGGAAAGAGACAGAGGACTGAAACTAACTTCCATGAATTTCATATAGCTAATTAAGGCCACAAAGCTAATTGTGTTTGGTGGTTGTGATGGTTTAAATGTTTGTGTCCCCTCCAAAATTCACGTTGAAACTTAATTGCCAATGTAACAGTATTAAGAGGTGGGGCCTTCAGGAGGTGATTAAGTCATTACGGTAGAGCTCTCATGAATGGGATTAGGTGCCCTTATAAAAGAGGTTGACAGAGGAAGTTTGTCCCTCTTGCTCCTCCACCTTCTGCCATGTAAGGACCCAGTGTTCCTCCCTTCCAGAGGATACAGTGTTCAAGGTGCAATCTTGGAAGCAGAGAGTAGCTTTCGCCAGACAGGGAAACCTGCCAATGCCTTGATCTTGGGCTTCCCAGCCTCCAGAACTGTGAGAAAATAAATTTCTGTTCTTATCAAATTACCCAGTCTCGGGTAATTTGTTATAGCAGTACAAATGAACTAAGATATTTGCCAAGGGTGTTTGCTATG
|
pathogenic
| 300,188 |
Mutation at chromosome 19, position 13312749, within CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
CAAAATATTTATCTGTTCTACAGCAAAGGGATACACGGATATTGAGACTTGGAACTATTACAAACAAGGTTGCTCAGGACATTTTAAAATTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACGACGCCTGGCTAATTTTTGTATTTTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCCGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCTGGCCTACTTTTATTTCTTAGAGATGGGGTCTCACTCTCTTGTCCAGGCTGGAGGGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTGCTGGGCTCAAGCAATCCTCCCACCTTAGCCTTCTGAGTAGCTGGGGCTACAGGTGTGCACCACCACACCTGGCTAATTATTATTAATTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTGGGCTGGTTTTCAACTCCTGGGCTCAAGCAATTCTGCTGCCTCAGCCTCCTGAATAGCTGAGGCTATAGGCATGAGGCATCACACCCGGCTTTCTTTTCTTTTTAATGGAAAGAAATTGGTTTTATTCTTTAACTACTTGGGTCATTTATGTAGGGAAGGTTTGCTTGTTTGTATGTATTTTGTTTTCTCCAACAACATAATTTTCTATAATGGCAGAAAACAGTACAACATTCAGTTATTATAAATTATTAAGCTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAACAAAAAATAAAAACAAAAAATAAAAAAAAATAAATAAATTATTAAGCCTTTCTGAGACCAACAGGACTATGGTAAATGATTAGGGCTGCCCTGGGCCAGGCATTCTCCACTTATTTGCGAACAACCTTAATTTCACTTCCAGCTGCAGGGACATTCTGGCCTGTGTCTCCTAGGTATCTGGGTGAGATTTTCTAGGATGAATTCCTAGCAATGGAATGCTGGGTCATATCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATTGGACGTAGATTATTCTCCAGGACTTAGGTTTTGTGTGGACTAGTGGGTTACTGGGTGTTAATCACATTTAAAAAATAAATTAATTAACTGAGTAATTCACAAAATAACAAAGGACCATAATGGCTCCATAATGCCAGGGTGTTGTAATCTAACAATTATACTTCATCTACCTCCACATGACTGAGCTACAAAGGAAAAGAAGAAATAGAAATCATATTGATGTCCTGTTTGTAATCCTGAAGTTGGGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGCATGGCTTTTCTCCCAACTTGGAAAACTTGTCTTATGTCCCCCACTTAGCTTTCCAAAGGGGGTCTATACGTTTTCCTCCCACTGGCGGTGGTTGAGGGTTCTGGGTACACTGTATCCTTGCCAGTGTTTGGGATTGTTTTCTCATTCCTTCTGCATCCATCTGAGTCTCTCATATTCAGGGGTGACTTTACCTTTCTCCCTTTAATGTGTCCAGGTATCTGTCATTCCAGGCAAGAGCTGGAGAAATGAACTCTTAGAAACAAGAGCACTTACCCCACAGTCAAAGCAGTTGAAGGAAGAGTGGAAGTAAGGCCGCGTCCCAAGCCCGTACATTTTTATAAACATTTCGGACATAAAGAGTCCTAAGAAAATGAATTCTGCATAGTCTAGAAGGGAGAAGGAGGAAACAGAGAGGAGGTTAGGCTTGCTGAGGGTAGGGGTTCCAGGTGGCTCTGACTTTCCTTTTATTATCATTTTTAAACTTTTTATTTTTTGTAGAGATGAGGTCTTGCTATGCTGTTAGGCTGGTTTCAAACTCCTGGCCTCAAACAGTTTCCCTGATTTGGCCTCCAACATGCTAGAACTACAGGCATGTGTCACCACACCCAACTTCTGACTTATCTTTTTTCTTTTTAAAATTTTTATGTGGAGATGGGGGTCTCACTATGTTGCCCTGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCAGCACAGCCTCCCAAAGTGCTGGGATTATATACATGACCCACTGTGGCCACGCCCTGTCCAAGGTGTCCTTCCCATGGGCCTCAGTTTCCCCTCTGTTAAAAAGGAAGAGCTGGCTGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGTCAGATCAACTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGCAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGTGTGGTGACACATGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGGGCCACCCTACTGTAGCCTGGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAAAAAAAAAAAAAGCAACAATTATGCCCTACCCTCCAACCAACAAGCTAACCAACCTTAGGCCGATTTTAAAAGGAATGAGAAAAATATCAGTGGGTCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATCGGATATAGATTATTGCCAAGGACTTTTGTGTTGACTGGTGGGTTCCTGGGTGTTTATCACATTTAAAAAATAAACTAATTAACTGAATAATTCACATAATAACAATGGACCATAACGGCCCCATAATGCCAGGGTGCTGTGATCTAACAATTATATTTAATCTACTTCTACGTGACTGAGCTCCAAAGGATAAAAGGAAATAGAAATCATAATGATATCCTATTTGTAATCCTGAAGTTAAGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGTATGGCTTTTCTCCTAACTCAGAAAACTTGTCTTATGTCCCCTAGAAATCCTGTGTTGTGAGTGACCTAAAAAGTCTTGAGTAAGACAAAGCCTTTTGTTCTTTGATGAGCAAGCATAAAATTGCAAATGCCTCAGGGAGGGGTAAAACATGGATATGCATTTGCTCCAGCAAATAAATGGCTGACATCAGATCCTTTTCTGAGAGGGCTTTCTTGGTAGGGTAGGAAGATGAGGAGTTAGGAAGGGCGTGGGTACTTAATGGATAGAAAGGAGAGATGAGGAGGGTTTCTGAGGAGCAGAAAGCATACAGAAAGGAAAGAGACAGAGGACTGAAACTAACTTCCATGAATTTCATATAGCTAATTAAGGCCACAAAGCTAATTGTGTTTGGTGGTTGTGATGGTTTAAATGTTTGTGTCCCCTCCAAAATTCACGTTGAAACTTAATTGCCAATGTAACAGTATTAAGAGGTGGGGCCTTCAGGAGGTGATTAAGTCATTACGGTAGAGCTCTCATGAATGGGATTAGGTGCCCTTATAAAAGAGGTTGACAGAGGAAGTTTGTCCCTCTTGCTCCTCCACCTTCTGCCATGTAAGGACCCAGTGTTCCTCCCTTCCAGAGGATACAGTGTTCAAGGTGCAATCTTGGAAGCAGAGAGTAGCTTTCGCCAGACAGGGAAACCTGCCAATGCCTTGATCTTGGGCTTCCCAGCCTCCAGAACTGTGAGAAAATAAATTTCTGTTCTTATCAAATTACCCAGTCTCGGGTAATTTGTTATAGCAGTACAAATGAACTAAGATATTTGCCAAGGGTGTTTGCTATGTCATGCTTTTAAGAGGTGTTTTGAACTGACCGTCAAAGTCCTTCACAG
|
CAAAATATTTATCTGTTCTACAGCAAAGGGATACACGGATATTGAGACTTGGAACTATTACAAACAAGGTTGCTCAGGACATTTTAAAATTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTTACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACGACGCCTGGCTAATTTTTGTATTTTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCCGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCTGGCCTACTTTTATTTCTTAGAGATGGGGTCTCACTCTCTTGTCCAGGCTGGAGGGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTGCTGGGCTCAAGCAATCCTCCCACCTTAGCCTTCTGAGTAGCTGGGGCTACAGGTGTGCACCACCACACCTGGCTAATTATTATTAATTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTGGGCTGGTTTTCAACTCCTGGGCTCAAGCAATTCTGCTGCCTCAGCCTCCTGAATAGCTGAGGCTATAGGCATGAGGCATCACACCCGGCTTTCTTTTCTTTTTAATGGAAAGAAATTGGTTTTATTCTTTAACTACTTGGGTCATTTATGTAGGGAAGGTTTGCTTGTTTGTATGTATTTTGTTTTCTCCAACAACATAATTTTCTATAATGGCAGAAAACAGTACAACATTCAGTTATTATAAATTATTAAGCTGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAACAAAAAATAAAAACAAAAAATAAAAAAAAATAAATAAATTATTAAGCCTTTCTGAGACCAACAGGACTATGGTAAATGATTAGGGCTGCCCTGGGCCAGGCATTCTCCACTTATTTGCGAACAACCTTAATTTCACTTCCAGCTGCAGGGACATTCTGGCCTGTGTCTCCTAGGTATCTGGGTGAGATTTTCTAGGATGAATTCCTAGCAATGGAATGCTGGGTCATATCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATTGGACGTAGATTATTCTCCAGGACTTAGGTTTTGTGTGGACTAGTGGGTTACTGGGTGTTAATCACATTTAAAAAATAAATTAATTAACTGAGTAATTCACAAAATAACAAAGGACCATAATGGCTCCATAATGCCAGGGTGTTGTAATCTAACAATTATACTTCATCTACCTCCACATGACTGAGCTACAAAGGAAAAGAAGAAATAGAAATCATATTGATGTCCTGTTTGTAATCCTGAAGTTGGGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGCATGGCTTTTCTCCCAACTTGGAAAACTTGTCTTATGTCCCCCACTTAGCTTTCCAAAGGGGGTCTATACGTTTTCCTCCCACTGGCGGTGGTTGAGGGTTCTGGGTACACTGTATCCTTGCCAGTGTTTGGGATTGTTTTCTCATTCCTTCTGCATCCATCTGAGTCTCTCATATTCAGGGGTGACTTTACCTTTCTCCCTTTAATGTGTCCAGGTATCTGTCATTCCAGGCAAGAGCTGGAGAAATGAACTCTTAGAAACAAGAGCACTTACCCCACAGTCAAAGCAGTTGAAGGAAGAGTGGAAGTAAGGCCGCGTCCCAAGCCCGTACATTTTTATAAACATTTCGGACATAGAGTCCTAAGAAAATGAATTCTGCATAGTCTAGAAGGGAGAAGGAGGAAACAGAGAGGAGGTTAGGCTTGCTGAGGGTAGGGGTTCCAGGTGGCTCTGACTTTCCTTTTATTATCATTTTTAAACTTTTTATTTTTTGTAGAGATGAGGTCTTGCTATGCTGTTAGGCTGGTTTCAAACTCCTGGCCTCAAACAGTTTCCCTGATTTGGCCTCCAACATGCTAGAACTACAGGCATGTGTCACCACACCCAACTTCTGACTTATCTTTTTTCTTTTTAAAATTTTTATGTGGAGATGGGGGTCTCACTATGTTGCCCTGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCCAGCACAGCCTCCCAAAGTGCTGGGATTATATACATGACCCACTGTGGCCACGCCCTGTCCAAGGTGTCCTTCCCATGGGCCTCAGTTTCCCCTCTGTTAAAAAGGAAGAGCTGGCTGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGTCAGATCAACTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGCAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGTGTGGTGACACATGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGGGCCACCCTACTGTAGCCTGGGTGACAGAGCAAGACCTTGTCTAAAAAAAAAAAAAAAAAAAAAAAGCAACAATTATGCCCTACCCTCCAACCAACAAGCTAACCAACCTTAGGCCGATTTTAAAAGGAATGAGAAAAATATCAGTGGGTCTCCATCTTGTAGTTTTTGCCCTGGTTCGATGAGAAGGATCGGATATAGATTATTGCCAAGGACTTTTGTGTTGACTGGTGGGTTCCTGGGTGTTTATCACATTTAAAAAATAAACTAATTAACTGAATAATTCACATAATAACAATGGACCATAACGGCCCCATAATGCCAGGGTGCTGTGATCTAACAATTATATTTAATCTACTTCTACGTGACTGAGCTCCAAAGGATAAAAGGAAATAGAAATCATAATGATATCCTATTTGTAATCCTGAAGTTAAGTACTTAGTTGGAGCGACACAGGCAACCCACCTAAGGTATGGCTTTTCTCCTAACTCAGAAAACTTGTCTTATGTCCCCTAGAAATCCTGTGTTGTGAGTGACCTAAAAAGTCTTGAGTAAGACAAAGCCTTTTGTTCTTTGATGAGCAAGCATAAAATTGCAAATGCCTCAGGGAGGGGTAAAACATGGATATGCATTTGCTCCAGCAAATAAATGGCTGACATCAGATCCTTTTCTGAGAGGGCTTTCTTGGTAGGGTAGGAAGATGAGGAGTTAGGAAGGGCGTGGGTACTTAATGGATAGAAAGGAGAGATGAGGAGGGTTTCTGAGGAGCAGAAAGCATACAGAAAGGAAAGAGACAGAGGACTGAAACTAACTTCCATGAATTTCATATAGCTAATTAAGGCCACAAAGCTAATTGTGTTTGGTGGTTGTGATGGTTTAAATGTTTGTGTCCCCTCCAAAATTCACGTTGAAACTTAATTGCCAATGTAACAGTATTAAGAGGTGGGGCCTTCAGGAGGTGATTAAGTCATTACGGTAGAGCTCTCATGAATGGGATTAGGTGCCCTTATAAAAGAGGTTGACAGAGGAAGTTTGTCCCTCTTGCTCCTCCACCTTCTGCCATGTAAGGACCCAGTGTTCCTCCCTTCCAGAGGATACAGTGTTCAAGGTGCAATCTTGGAAGCAGAGAGTAGCTTTCGCCAGACAGGGAAACCTGCCAATGCCTTGATCTTGGGCTTCCCAGCCTCCAGAACTGTGAGAAAATAAATTTCTGTTCTTATCAAATTACCCAGTCTCGGGTAATTTGTTATAGCAGTACAAATGAACTAAGATATTTGCCAAGGGTGTTTGCTATGTCATGCTTTTAAGAGGTGTTTTGAACTGACCGTCAAAGTCCTTCACAGNN
|
pathogenic
| 300,195 |
Variant chromosome 19, position 13317145, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? Disease(s)?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
TAGATGTGGAGTCTGAGATCCAGAGAAACAACTACACTTCACTGATGCCAAGATATACATTTTTGTTTATATTTTGACATCTCTGAAATTAATGTGTATCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGCGTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCATGCCAAGCTAATGTGTGATCCTGGGCAATCTACTTAACCTCTCTGTGTCTCAGTTTTCTCAAAGGGAAAGTGGGAATGAGTAAAGGACCTTTATAGACACTGAGGACCCAGGCAGGAAGTCTCAGTCCCTTGTTCCTGAACCAGGACAGACTGTACAAGATGATTAGTAGAGAGAATATAGGAGATTAAAAATAGAGTATTAGAGGAAGTTAAAACACGAAGTAGAGTCCTCATTTATAAGAGACTCCAGAGGGACTAAAAACAATTACTAAGTTTGAAACTAGGTCAGGGCCCTGGGAAGGAGAACTGGTTCCTGAGGGGTGTCCTGGGGGGTCAGCCAACGTGACTGGGAACAAGGAGGGTTATAAGAAGACAATGGCCTGGACTAGGCTCACGGGCCTTTCTAGGTCAAAGACTAGACTGTCTCTTCTTGCTGTCCTAAGTCAATTCTGAACCAGGTCAGAAGGTCAGTGAATAAATTAGACAGCCAGTAGGCAAAAGACGTTTTGAGAAGTCCTTACTTGGGGCCTGTGAGCCAAAGCCAGGGCATCCACCTGCCCCCCTCACTGCCCAATCACTACTCTTTATTTTATTTTATTTTATTTTACTTTATTTTTTGAGACAGACACTCTCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGATTCAAGCAGTTCTAGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCATCACATCTGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCCCAGTCGCTGCTCTTGTTGATTCCTCGAGCTCTTTACTTTTTAAATCCTGCTCAGACATCTCCCCATCTTTTGCTGCTTTTCCTCACCCTCACTTGGCCCTCAATTTTGATACTATCTCATGCTAACTCACATAGAATCTGGGAATAGGCCCAGAGGGCAAAGCCTTAGTGGGCCTTGTACCTTGAGGGAGCAAAACGCTCTCGCAGATACTGGAGGGGATGTTCTATGAATGAATAAGGAAGCCAAAAAGGGCAGGGGAGGAAGTATTAGGTTGGTGCAAAAGTAACTGTGGTTAAAAAAAAAAAAAAAAAAGGCAAAAAACGCAATTAATTTTGCACCAACCTAACAGGAAAGAAGCAGAAGGTTTGAAAGAAGAGAGAAGTAGAGTCAGAAATAAGTAGAGAAAATGAGGGCAACATATAAGCCACTCCTTATTTCTAAGGCATCCTCTCTTAACCATAAGTTATGAACATTTCCAGAGATGTACATAAAAATTATTAATACATGTATGTTTCTGTTTCTATCTGTCTATCTTATGAGCTCCGTCTTTCTCTGTCTCTCTTCCAACATCCCCTTCACCAGCACCCCTCTGTCCCTCTCTCTTAGAAAGGAATCACAGGAGCATTTGTTGGTCTGAATTCCAGCTTCCAGCTCTCAGGTCTAAGGGAGATGGGTTCCATTGTCATAGCAACAGTAACATTGGCCCCAGTGACAGTTATAGAAATGGCTAAAGGAAAGGGCAGATTCAATGAGGACCAAAGAAGATACACATACTACCAGAGAAAGAGAAGTGGAAAAAGGGTGTGAGGGAGGGATCAGGGAGTTGGCAGGGGTGGGGCTGGGTGATACTCACAAAGGAAGTCGGAGAGCCACTCGGGCTGGTTGTAGTGAACAATAGCAACACACAGCGTGTTGAGAGCTACCAAACTGAGTACAGTCCAGTAGAAGGCCTGAGTTTTGACCATGCGGCGGATGTAGAAACGCATCCTCCTCTCCTTTTTGTGAAAAAAGGTCGAGTTCTCCAGCTTGGCACTTTTAATGCTGGCTCGGGCGAAGGGAGAACCTGCCAGGGAAAAGATGGAGAATGTCAGGCTCAGGCTGTTCCTTCAGAAGAAATTAACCAATGTGCAGCCCAAGCACAGATTTTAGCCAGGGGATCCATTAGTCTCTCCAGCAAGCCTCTGGCCTGAGGGAACCATCATGACCCATGGGCTTAGTTTTGCATAGATGGAGCTTATGAGAAGACAGTGCCCCTGAAAAATAACAGAATTAGAAGTAACCAATTGATGGGAAGGCTGATAGTTCTCTGTTGCAGGAGCCAATTTTCCATGTCTCCCACTCCCAGCCACATCTGATGCCTCTGGGAGTCACACCACAGGGCAGGATAAAGCAGAGCCTCCATTCCCTGATGCAGGGGCAGGCAACAGAGCTGCATGGAGCACGCTTGGAAGGCCTCCAGAAAGAGATGTGGATGAGACTGTTTTCCATGGACATTTAACTTTAGAAGTGATCACTGAGGAATAAGCTGGGTGTGTCCTCTGCCTACATATAGTTTTGCTCTTATGCATTTATTGAGTACCTATTTTGTGCCAGGCTCTGTTCCAGGGGCTCAGGATACATTAGGCAACAGAGCCTGGACTTCCGGGGTCTGACCCTCTAAGGGGAGGAGACAGACAGTGGACGTAATAAGTAAATTAACAGTGGGATGGAAAATGAAAAGTGCTATGGGAAAAAAAAAGTTGGGATGGGTGCAGTGGCACATGCCTCTAATCCCAGTACTTTGGGAAGCTGGAATGGGAGGACTGTATGAGGCCAGGAGTTTGACACCAGCCTGGGCAACACAGCGAGACAAGTTCTTTTAAATAACAATTTTTTTTTTAAGAGAAAAAGTAAAGCATCACAGAGGGACTGGGAGCCCTTGGAGAGTCCACAGGGTAGGCTGCAACATTAAATTGCATGGTCAAGGTGAGTGTGTTGACTTGTCACTTTAGTATCTTAGGTAGAGGAAACAGCAAATTTAAGGTCCTGAAGCATGAATGTGTCTGCCCGACATTTTTGGGGAAGAGCACAAGGAAGTCAGTGTGGCTGGAGTGGAGTGGTTGAGGGGAAAAGAGGAAGGTGGTGAAGGCAGGGAGGTGACAGGCAGATCATGCATGGCCTGGTGGACCACAAGGAGGACTTTGGCTTTTACCCTGAGTGAGGGGGGAGCCGTGGAGGGTTCTGAGTAGAGGAGGGATGGAACCTGATTTGGGTGTTCACAGGCACCCTCTGGCTGCCGAGTGGGAGAGTAGACAGTGAGAGGTGAGGACGGGAGCTGGGAGACCAGGCTGGAGGTGACTGAACCCATCCAGGCAAGTGATGATGATGATGGATGGGGGCTGGAGTTGGGTGGTAGTTAAGCGGGGAGGATTTGGGATGAATCATTTAAGACAGATTCAACATTTGCTGATGGAACGGTGTGGATGTAAGAGAGAGGGATGAGCCAAGGTGAATGAATGATGTACATACAAAGGAATGGATGAATTGGTGAACCCCTTAAGGGATGGAGCTCTCATCCACTGAATGGGCACAGGTTTAGGGGAAGGTCAGAGCTCAGTTTTGGACAGATTGAATTTACCTTCTAAAATACATCTTTTTTTTTTTTTTTTGAGACAGGATCTTGCTTTGTTGCCCAGGCTGGAATGCAGTGGCTTGATCCTAGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTATGACTACAGGCACGTACCACCATGCCCGCTTAATTAAAACAATTTTGTTTTTGGTAGCAATGAGGTCTCCCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGTTCAAGCGATCCTCCCGCCTCAGCGTCCCTAAGCATTGGGATTCCAGCATGAATTACCATGCCCAGG
|
TAGATGTGGAGTCTGAGATCCAGAGAAACAACTACACTTCACTGATGCCAAGATATACATTTTTGTTTATATTTTGACATCTCTGAAATTAATGTGTATCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGCGTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCATGCCAAGCTAATGTGTGATCCTGGGCAATCTACTTAACCTCTCTGTGTCTCAGTTTTCTCAAAGGGAAAGTGGGAATGAGTAAAGGACCTTTATAGACACTGAGGACCCAGGCAGGAAGTCTCAGTCCCTTGTTCCTGAACCAGGACAGACTGTACAAGATGATTAGTAGAGAGAATATAGGAGATTAAAAATAGAGTATTAGAGGAAGTTAAAACACGAAGTAGAGTCCTCATTTATAAGAGACTCCAGAGGGACTAAAAACAATTACTAAGTTTGAAACTAGGTCAGGGCCCTGGGAAGGAGAACTGGTTCCTGAGGGGTGTCCTGGGGGGTCAGCCAACGTGACTGGGAACAAGGAGGGTTATAAGAAGACAATGGCCTGGACTAGGCTCACGGGCCTTTCTAGGTCAAAGACTAGACTGTCTCTTCTTGCTGTCCTAAGTCAATTCTGAACCAGGTCAGAAGGTCAGTGAATAAATTAGACAGCCAGTAGGCAAAAGACGTTTTGAGAAGTCCTTACTTGGGGCCTGTGAGCCAAAGCCAGGGCATCCACCTGCCCCCCTCACTGCCCAATCACTACTCTTTATTTTATTTTATTTTATTTTACTTTATTTTTTGAGACAGACACTCTCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGATTCAAGCAGTTCTAGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCATCACATCTGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCCCAGTCGCTGCTCTTGTTGATTCCTCGAGCTCTTTACTTTTTAAATCCTGCTCAGACATCTCCCCATCTTTTGCTGCTTTTCCTCACCCTCACTTGGCCCTCAATTTTGATACTATCTCATGCTAACTCACATAGAATCTGGGAATAGGCCCAGAGGGCAAAGCCTTAGTGGGCCTTGTACCTTGAGGGAGCAAAACGCTCTCGCAGATACTGGAGGGGATGTTCTATGAATGAATAAGGAAGCCAAAAAGGGCAGGGGAGGAAGTATTAGGTTGGTGCAAAAGTAACTGTGGTTAAAAAAAAAAAAAAAAAAGGCAAAAAACGCAATTAATTTTGCACCAACCTAACAGGAAAGAAGCAGAAGGTTTGAAAGAAGAGAGAAGTAGAGTCAGAAATAAGTAGAGAAAATGAGGGCAACATATAAGCCACTCCTTATTTCTAAGGCATCCTCTCTTAACCATAAGTTATGAACATTTCCAGAGATGTACATAAAAATTATTAATACATGTATGTTTCTGTTTCTATCTGTCTATCTTATGAGCTCCGTCTTTCTCTGTCTCTCTTCCAACATCCCCTTCACCAGCACCCCTCTGTCCCTCTCTCTTAGAAAGGAATCACAGGAGCATTTGTTGGTCTGAATTCCAGCTTCCAGCTCTCAGGTCTAAGGGAGATGGGTTCCATTGTCATAGCAACAGTAACATTGGCCCCAGTGACAGTTATAGAAATGGCTAAAGGAAAGGGCAGATTCAATGAGGACCAAAGAAGATACACATACTACCAGAGAAAGAGAAGTGGAAAAAGGGTGTGAGGGAGGGATCAGGGAGTTGGCAGGGGTGGGGCTGGGTGATACTCACAAAGGAAGTCGGAGAGCCACTCGGGCTGGTTGTAGTGTTGAGAGCTACCAAACTGAGTACAGTCCAGTAGAAGGCCTGAGTTTTGACCATGCGGCGGATGTAGAAACGCATCCTCCTCTCCTTTTTGTGAAAAAAGGTCGAGTTCTCCAGCTTGGCACTTTTAATGCTGGCTCGGGCGAAGGGAGAACCTGCCAGGGAAAAGATGGAGAATGTCAGGCTCAGGCTGTTCCTTCAGAAGAAATTAACCAATGTGCAGCCCAAGCACAGATTTTAGCCAGGGGATCCATTAGTCTCTCCAGCAAGCCTCTGGCCTGAGGGAACCATCATGACCCATGGGCTTAGTTTTGCATAGATGGAGCTTATGAGAAGACAGTGCCCCTGAAAAATAACAGAATTAGAAGTAACCAATTGATGGGAAGGCTGATAGTTCTCTGTTGCAGGAGCCAATTTTCCATGTCTCCCACTCCCAGCCACATCTGATGCCTCTGGGAGTCACACCACAGGGCAGGATAAAGCAGAGCCTCCATTCCCTGATGCAGGGGCAGGCAACAGAGCTGCATGGAGCACGCTTGGAAGGCCTCCAGAAAGAGATGTGGATGAGACTGTTTTCCATGGACATTTAACTTTAGAAGTGATCACTGAGGAATAAGCTGGGTGTGTCCTCTGCCTACATATAGTTTTGCTCTTATGCATTTATTGAGTACCTATTTTGTGCCAGGCTCTGTTCCAGGGGCTCAGGATACATTAGGCAACAGAGCCTGGACTTCCGGGGTCTGACCCTCTAAGGGGAGGAGACAGACAGTGGACGTAATAAGTAAATTAACAGTGGGATGGAAAATGAAAAGTGCTATGGGAAAAAAAAAGTTGGGATGGGTGCAGTGGCACATGCCTCTAATCCCAGTACTTTGGGAAGCTGGAATGGGAGGACTGTATGAGGCCAGGAGTTTGACACCAGCCTGGGCAACACAGCGAGACAAGTTCTTTTAAATAACAATTTTTTTTTTAAGAGAAAAAGTAAAGCATCACAGAGGGACTGGGAGCCCTTGGAGAGTCCACAGGGTAGGCTGCAACATTAAATTGCATGGTCAAGGTGAGTGTGTTGACTTGTCACTTTAGTATCTTAGGTAGAGGAAACAGCAAATTTAAGGTCCTGAAGCATGAATGTGTCTGCCCGACATTTTTGGGGAAGAGCACAAGGAAGTCAGTGTGGCTGGAGTGGAGTGGTTGAGGGGAAAAGAGGAAGGTGGTGAAGGCAGGGAGGTGACAGGCAGATCATGCATGGCCTGGTGGACCACAAGGAGGACTTTGGCTTTTACCCTGAGTGAGGGGGGAGCCGTGGAGGGTTCTGAGTAGAGGAGGGATGGAACCTGATTTGGGTGTTCACAGGCACCCTCTGGCTGCCGAGTGGGAGAGTAGACAGTGAGAGGTGAGGACGGGAGCTGGGAGACCAGGCTGGAGGTGACTGAACCCATCCAGGCAAGTGATGATGATGATGGATGGGGGCTGGAGTTGGGTGGTAGTTAAGCGGGGAGGATTTGGGATGAATCATTTAAGACAGATTCAACATTTGCTGATGGAACGGTGTGGATGTAAGAGAGAGGGATGAGCCAAGGTGAATGAATGATGTACATACAAAGGAATGGATGAATTGGTGAACCCCTTAAGGGATGGAGCTCTCATCCACTGAATGGGCACAGGTTTAGGGGAAGGTCAGAGCTCAGTTTTGGACAGATTGAATTTACCTTCTAAAATACATCTTTTTTTTTTTTTTTTGAGACAGGATCTTGCTTTGTTGCCCAGGCTGGAATGCAGTGGCTTGATCCTAGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTATGACTACAGGCACGTACCACCATGCCCGCTTAATTAAAACAATTTTGTTTTTGGTAGCAATGAGGTCTCCCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGTTCAAGCGATCCTCCCGCCTCAGCGTCCCTAAGCATTGGGATTCCAGCATGAATTACCATGCCCAGGNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 300,201 |
Clinical significance of chromosome 19, position 13317227, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
CTGAAATTAATGTGTATCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGCGTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCATGCCAAGCTAATGTGTGATCCTGGGCAATCTACTTAACCTCTCTGTGTCTCAGTTTTCTCAAAGGGAAAGTGGGAATGAGTAAAGGACCTTTATAGACACTGAGGACCCAGGCAGGAAGTCTCAGTCCCTTGTTCCTGAACCAGGACAGACTGTACAAGATGATTAGTAGAGAGAATATAGGAGATTAAAAATAGAGTATTAGAGGAAGTTAAAACACGAAGTAGAGTCCTCATTTATAAGAGACTCCAGAGGGACTAAAAACAATTACTAAGTTTGAAACTAGGTCAGGGCCCTGGGAAGGAGAACTGGTTCCTGAGGGGTGTCCTGGGGGGTCAGCCAACGTGACTGGGAACAAGGAGGGTTATAAGAAGACAATGGCCTGGACTAGGCTCACGGGCCTTTCTAGGTCAAAGACTAGACTGTCTCTTCTTGCTGTCCTAAGTCAATTCTGAACCAGGTCAGAAGGTCAGTGAATAAATTAGACAGCCAGTAGGCAAAAGACGTTTTGAGAAGTCCTTACTTGGGGCCTGTGAGCCAAAGCCAGGGCATCCACCTGCCCCCCTCACTGCCCAATCACTACTCTTTATTTTATTTTATTTTATTTTACTTTATTTTTTGAGACAGACACTCTCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGATTCAAGCAGTTCTAGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCATCACATCTGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCCCAGTCGCTGCTCTTGTTGATTCCTCGAGCTCTTTACTTTTTAAATCCTGCTCAGACATCTCCCCATCTTTTGCTGCTTTTCCTCACCCTCACTTGGCCCTCAATTTTGATACTATCTCATGCTAACTCACATAGAATCTGGGAATAGGCCCAGAGGGCAAAGCCTTAGTGGGCCTTGTACCTTGAGGGAGCAAAACGCTCTCGCAGATACTGGAGGGGATGTTCTATGAATGAATAAGGAAGCCAAAAAGGGCAGGGGAGGAAGTATTAGGTTGGTGCAAAAGTAACTGTGGTTAAAAAAAAAAAAAAAAAAGGCAAAAAACGCAATTAATTTTGCACCAACCTAACAGGAAAGAAGCAGAAGGTTTGAAAGAAGAGAGAAGTAGAGTCAGAAATAAGTAGAGAAAATGAGGGCAACATATAAGCCACTCCTTATTTCTAAGGCATCCTCTCTTAACCATAAGTTATGAACATTTCCAGAGATGTACATAAAAATTATTAATACATGTATGTTTCTGTTTCTATCTGTCTATCTTATGAGCTCCGTCTTTCTCTGTCTCTCTTCCAACATCCCCTTCACCAGCACCCCTCTGTCCCTCTCTCTTAGAAAGGAATCACAGGAGCATTTGTTGGTCTGAATTCCAGCTTCCAGCTCTCAGGTCTAAGGGAGATGGGTTCCATTGTCATAGCAACAGTAACATTGGCCCCAGTGACAGTTATAGAAATGGCTAAAGGAAAGGGCAGATTCAATGAGGACCAAAGAAGATACACATACTACCAGAGAAAGAGAAGTGGAAAAAGGGTGTGAGGGAGGGATCAGGGAGTTGGCAGGGGTGGGGCTGGGTGATACTCACAAAGGAAGTCGGAGAGCCACTCGGGCTGGTTGTAGTGAACAATAGCAACACACAGCGTGTTGAGAGCTACCAAACTGAGTACAGTCCAGTAGAAGGCCTGAGTTTTGACCATGCGGCGGATGTAGAAACGCATCCTCCTCTCCTTTTTGTGAAAAAAGGTCGAGTTCTCCAGCTTGGCACTTTTAATGCTGGCTCGGGCGAAGGGAGAACCTGCCAGGGAAAAGATGGAGAATGTCAGGCTCAGGCTGTTCCTTCAGAAGAAATTAACCAATGTGCAGCCCAAGCACAGATTTTAGCCAGGGGATCCATTAGTCTCTCCAGCAAGCCTCTGGCCTGAGGGAACCATCATGACCCATGGGCTTAGTTTTGCATAGATGGAGCTTATGAGAAGACAGTGCCCCTGAAAAATAACAGAATTAGAAGTAACCAATTGATGGGAAGGCTGATAGTTCTCTGTTGCAGGAGCCAATTTTCCATGTCTCCCACTCCCAGCCACATCTGATGCCTCTGGGAGTCACACCACAGGGCAGGATAAAGCAGAGCCTCCATTCCCTGATGCAGGGGCAGGCAACAGAGCTGCATGGAGCACGCTTGGAAGGCCTCCAGAAAGAGATGTGGATGAGACTGTTTTCCATGGACATTTAACTTTAGAAGTGATCACTGAGGAATAAGCTGGGTGTGTCCTCTGCCTACATATAGTTTTGCTCTTATGCATTTATTGAGTACCTATTTTGTGCCAGGCTCTGTTCCAGGGGCTCAGGATACATTAGGCAACAGAGCCTGGACTTCCGGGGTCTGACCCTCTAAGGGGAGGAGACAGACAGTGGACGTAATAAGTAAATTAACAGTGGGATGGAAAATGAAAAGTGCTATGGGAAAAAAAAAGTTGGGATGGGTGCAGTGGCACATGCCTCTAATCCCAGTACTTTGGGAAGCTGGAATGGGAGGACTGTATGAGGCCAGGAGTTTGACACCAGCCTGGGCAACACAGCGAGACAAGTTCTTTTAAATAACAATTTTTTTTTTAAGAGAAAAAGTAAAGCATCACAGAGGGACTGGGAGCCCTTGGAGAGTCCACAGGGTAGGCTGCAACATTAAATTGCATGGTCAAGGTGAGTGTGTTGACTTGTCACTTTAGTATCTTAGGTAGAGGAAACAGCAAATTTAAGGTCCTGAAGCATGAATGTGTCTGCCCGACATTTTTGGGGAAGAGCACAAGGAAGTCAGTGTGGCTGGAGTGGAGTGGTTGAGGGGAAAAGAGGAAGGTGGTGAAGGCAGGGAGGTGACAGGCAGATCATGCATGGCCTGGTGGACCACAAGGAGGACTTTGGCTTTTACCCTGAGTGAGGGGGGAGCCGTGGAGGGTTCTGAGTAGAGGAGGGATGGAACCTGATTTGGGTGTTCACAGGCACCCTCTGGCTGCCGAGTGGGAGAGTAGACAGTGAGAGGTGAGGACGGGAGCTGGGAGACCAGGCTGGAGGTGACTGAACCCATCCAGGCAAGTGATGATGATGATGGATGGGGGCTGGAGTTGGGTGGTAGTTAAGCGGGGAGGATTTGGGATGAATCATTTAAGACAGATTCAACATTTGCTGATGGAACGGTGTGGATGTAAGAGAGAGGGATGAGCCAAGGTGAATGAATGATGTACATACAAAGGAATGGATGAATTGGTGAACCCCTTAAGGGATGGAGCTCTCATCCACTGAATGGGCACAGGTTTAGGGGAAGGTCAGAGCTCAGTTTTGGACAGATTGAATTTACCTTCTAAAATACATCTTTTTTTTTTTTTTTTGAGACAGGATCTTGCTTTGTTGCCCAGGCTGGAATGCAGTGGCTTGATCCTAGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTATGACTACAGGCACGTACCACCATGCCCGCTTAATTAAAACAATTTTGTTTTTGGTAGCAATGAGGTCTCCCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGTTCAAGCGATCCTCCCGCCTCAGCGTCCCTAAGCATTGGGATTCCAGCATGAATTACCATGCCCAGGCTTAAGATACCTTTTCTTATAAACCCTCAGTTGCATTCATTTTTAAATGGTTCTTCATTGATTGATTCATTCATTAGTACAT
|
CTGAAATTAATGTGTATCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGCGTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCATGCCAAGCTAATGTGTGATCCTGGGCAATCTACTTAACCTCTCTGTGTCTCAGTTTTCTCAAAGGGAAAGTGGGAATGAGTAAAGGACCTTTATAGACACTGAGGACCCAGGCAGGAAGTCTCAGTCCCTTGTTCCTGAACCAGGACAGACTGTACAAGATGATTAGTAGAGAGAATATAGGAGATTAAAAATAGAGTATTAGAGGAAGTTAAAACACGAAGTAGAGTCCTCATTTATAAGAGACTCCAGAGGGACTAAAAACAATTACTAAGTTTGAAACTAGGTCAGGGCCCTGGGAAGGAGAACTGGTTCCTGAGGGGTGTCCTGGGGGGTCAGCCAACGTGACTGGGAACAAGGAGGGTTATAAGAAGACAATGGCCTGGACTAGGCTCACGGGCCTTTCTAGGTCAAAGACTAGACTGTCTCTTCTTGCTGTCCTAAGTCAATTCTGAACCAGGTCAGAAGGTCAGTGAATAAATTAGACAGCCAGTAGGCAAAAGACGTTTTGAGAAGTCCTTACTTGGGGCCTGTGAGCCAAAGCCAGGGCATCCACCTGCCCCCCTCACTGCCCAATCACTACTCTTTATTTTATTTTATTTTATTTTACTTTATTTTTTGAGACAGACACTCTCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGATTCAAGCAGTTCTAGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCATCACATCTGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCCCAGTCGCTGCTCTTGTTGATTCCTCGAGCTCTTTACTTTTTAAATCCTGCTCAGACATCTCCCCATCTTTTGCTGCTTTTCCTCACCCTCACTTGGCCCTCAATTTTGATACTATCTCATGCTAACTCACATAGAATCTGGGAATAGGCCCAGAGGGCAAAGCCTTAGTGGGCCTTGTACCTTGAGGGAGCAAAACGCTCTCGCAGATACTGGAGGGGATGTTCTATGAATGAATAAGGAAGCCAAAAAGGGCAGGGGAGGAAGTATTAGGTTGGTGCAAAAGTAACTGTGGTTAAAAAAAAAAAAAAAAAAGGCAAAAAACGCAATTAATTTTGCACCAACCTAACAGGAAAGAAGCAGAAGGTTTGAAAGAAGAGAGAAGTAGAGTCAGAAATAAGTAGAGAAAATGAGGGCAACATATAAGCCACTCCTTATTTCTAAGGCATCCTCTCTTAACCATAAGTTATGAACATTTCCAGAGATGTACATAAAAATTATTAATACATGTATGTTTCTGTTTCTATCTGTCTATCTTATGAGCTCCGTCTTTCTCTGTCTCTCTTCCAACATCCCCTTCACCAGCACCCCTCTGTCCCTCTCTCTTAGAAAGGAATCACAGGAGCATTTGTTGGTCTGAATTCCAGCTTCCAGCTCTCAGGTCTAAGGGAGATGGGTTCCATTGTCATAGCAACAGTAACATTGGCCCCAGTGACAGTTATAGAAATGGCTAAAGGAAAGGGCAGATTCAATGAGGACCAAAGAAGATACACATACTACCAGAGAAAGAGAAGTGGAAAAAGGGTGTGAGGGAGGGATCAGGGAGTTGGCAGGGGTGGGGCTGGGTGATACTCACAAAGGAAGTCGGAGAGCCACTCGGGCTGGTTGTAGTGAACAATAGCAACACACAGCGTGTTGAGAGCTACCAAACTGAGTACAGTCCAGTAGAAGGCCTGAGTTTTGACCATGCGGGGATGTAGAAACGCATCCTCCTCTCCTTTTTGTGAAAAAAGGTCGAGTTCTCCAGCTTGGCACTTTTAATGCTGGCTCGGGCGAAGGGAGAACCTGCCAGGGAAAAGATGGAGAATGTCAGGCTCAGGCTGTTCCTTCAGAAGAAATTAACCAATGTGCAGCCCAAGCACAGATTTTAGCCAGGGGATCCATTAGTCTCTCCAGCAAGCCTCTGGCCTGAGGGAACCATCATGACCCATGGGCTTAGTTTTGCATAGATGGAGCTTATGAGAAGACAGTGCCCCTGAAAAATAACAGAATTAGAAGTAACCAATTGATGGGAAGGCTGATAGTTCTCTGTTGCAGGAGCCAATTTTCCATGTCTCCCACTCCCAGCCACATCTGATGCCTCTGGGAGTCACACCACAGGGCAGGATAAAGCAGAGCCTCCATTCCCTGATGCAGGGGCAGGCAACAGAGCTGCATGGAGCACGCTTGGAAGGCCTCCAGAAAGAGATGTGGATGAGACTGTTTTCCATGGACATTTAACTTTAGAAGTGATCACTGAGGAATAAGCTGGGTGTGTCCTCTGCCTACATATAGTTTTGCTCTTATGCATTTATTGAGTACCTATTTTGTGCCAGGCTCTGTTCCAGGGGCTCAGGATACATTAGGCAACAGAGCCTGGACTTCCGGGGTCTGACCCTCTAAGGGGAGGAGACAGACAGTGGACGTAATAAGTAAATTAACAGTGGGATGGAAAATGAAAAGTGCTATGGGAAAAAAAAAGTTGGGATGGGTGCAGTGGCACATGCCTCTAATCCCAGTACTTTGGGAAGCTGGAATGGGAGGACTGTATGAGGCCAGGAGTTTGACACCAGCCTGGGCAACACAGCGAGACAAGTTCTTTTAAATAACAATTTTTTTTTTAAGAGAAAAAGTAAAGCATCACAGAGGGACTGGGAGCCCTTGGAGAGTCCACAGGGTAGGCTGCAACATTAAATTGCATGGTCAAGGTGAGTGTGTTGACTTGTCACTTTAGTATCTTAGGTAGAGGAAACAGCAAATTTAAGGTCCTGAAGCATGAATGTGTCTGCCCGACATTTTTGGGGAAGAGCACAAGGAAGTCAGTGTGGCTGGAGTGGAGTGGTTGAGGGGAAAAGAGGAAGGTGGTGAAGGCAGGGAGGTGACAGGCAGATCATGCATGGCCTGGTGGACCACAAGGAGGACTTTGGCTTTTACCCTGAGTGAGGGGGGAGCCGTGGAGGGTTCTGAGTAGAGGAGGGATGGAACCTGATTTGGGTGTTCACAGGCACCCTCTGGCTGCCGAGTGGGAGAGTAGACAGTGAGAGGTGAGGACGGGAGCTGGGAGACCAGGCTGGAGGTGACTGAACCCATCCAGGCAAGTGATGATGATGATGGATGGGGGCTGGAGTTGGGTGGTAGTTAAGCGGGGAGGATTTGGGATGAATCATTTAAGACAGATTCAACATTTGCTGATGGAACGGTGTGGATGTAAGAGAGAGGGATGAGCCAAGGTGAATGAATGATGTACATACAAAGGAATGGATGAATTGGTGAACCCCTTAAGGGATGGAGCTCTCATCCACTGAATGGGCACAGGTTTAGGGGAAGGTCAGAGCTCAGTTTTGGACAGATTGAATTTACCTTCTAAAATACATCTTTTTTTTTTTTTTTTGAGACAGGATCTTGCTTTGTTGCCCAGGCTGGAATGCAGTGGCTTGATCCTAGCTCACTGCAGCCTTGAACTCCTGGGTTCAAGCGATCCTCCCACCTCAGCCTCCCAAGTAGCTATGACTACAGGCACGTACCACCATGCCCGCTTAATTAAAACAATTTTGTTTTTGGTAGCAATGAGGTCTCCCTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGTTCAAGCGATCCTCCCGCCTCAGCGTCCCTAAGCATTGGGATTCCAGCATGAATTACCATGCCCAGGCTTAAGATACCTTTTCTTATAAACCCTCAGTTGCATTCATTTTTAAATGGTTCTTCATTGATTGATTCATTCATTAGTACATN
|
pathogenic
| 300,206 |
Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) variant at chromosome 19, position 13330171—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
TTGAACGGCTGATCTTAGGAGATCCTCCTGCACTGGCCTCCCAAAGCAGTGGGATTACAGGCGTGAACCACTGTACCTCGTCATAAAACAGATTTTAAACAATGGAGGTAACGTAACACGTGAGACAGACATAATTGATCAAATACTCAAGACACCTACTGAGCGCTCCAATTCTTGACATTTGCTTACAGGAAATTAAACAGATGCACACACGAGTGGAAGCAGAATGAGTTCTCCATTACAAAGAAAAGCGTGTTTTGGCTGGAAATTAAAAATGCAAATGAAAACAAGCTTTAAGGTTTCATTACAAACCCACTTAACTGGGAAAGGAAATTAAATTGGTAATATTCGATGGCCTGGGTGGGGAATCCATGAACATATGCATACTTGGCAGGTTTATAAATGGGTTCCATGTTTTTGAAACTCAGAATGGCTCTTTGAATAATGAGTTGAAAAGCTGTTAATATCTTTGATCCTATAATTATCCCCAAGGAAATACGCCCAAAGGGTGGGGGGAGTCATTGTACGTAAATGTGCACAGCAGTGTTCTTCGTAAGAGAAATTATTGGAAACAACTCAAACACCCTATAATAGAGCTATGGCTAAACAAACCATAGTGTATCCACCCTACGAGATATGTGATCGCAATGGAAATTATGCCTAAACTCAGCAATAAGGTTATAAACTAGGGGCGAGCGATAAAAGGGGAATACGAAATAGTGGATCAGAAACTATGGATCAGAAACACATGGATGTACTAACTTCCCTCCTTCCTTCACTTCTCTCCCTCCTTCTCTTCCTCCCTTCCTCTTTCTCTTGCCATCCTTTCTTCCTCTAAACTGCGGCCACACAGTTTCCCAAGCAGCCTAAATTCCTTCTCCCCTCAATCTTATTCCAGTCTTATTTCCTCTGCCTGGATGCTCTTCCTTCCATTAAAAACAAAAACCCATTAAAGAACAACAACAACAATAACAATACATTCTCACTTTAGAAGGTCAAAATCAACATCATCACAGCCAATGAATCAATAGGACAGAGGAGTGAGAAGGGAAAGAATAAATGTTCCCTCCTCCCTCGAACTCTGGCCCTTGTGGTGGCAAAGGTCTGAGCCCTGCCTCTCACACTGTTCCTTCTGCTATCACCACCACAGTGATCTCCTACCCATCCTTCAGTTCCCAGCTTAACCGTCACTTCCTCCAGGTAGCCTTCCCTGACTGCTCCCCATCCTTCTAGAGCAAGCTAAGCCCAGAGCCTCTCCCTGAAGTGCCATTACCATTACAGGTTTATTTGTGTAATTCTCTGTTTAATTTCTATTTCCTGCACTGGACTGTGAGCTCCATGTAGGTAGGGATTTGGTTTGTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGATGAGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGTGATGCTCCCGCCTCAGCCTCCAGAGTAGCTGGAACTACAGGCTAATTTTTTTCGTATTTTTAGTAGAGCCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACATCAGGTGATCCGCTCATCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCTGGCTCAGTTTGTGTCTTTTTTTTTTTTTCTGTGCCCAGGCTGGAGTGCAGTAACACAATAATGGCTTATTGCAGCCTCCACTTCCCAGGCTCAAGTGATCCTCCCAGCTCAGCCTCGTGACTGCCTTGTCTTGTTTGCAACCAAGCACCTAATATAAGCAGGTCCCCCATGAATACTTCCCGAATGAGTCACAAACATTCACCAACTTGACTGGGAGCTTCGTCCCTGCCAGGTGCTGGTTTGCCATGCTTCATGGGGATCATTTAGTTGAATTCCCACAAAATAATGAGAAGCTAGGCACGGATGTTATTCCCATAATGATGTAATCTGCCCAGGACACACGCACAGGTGGGAAAGGGTGGAGCTGAGACCCAAATCCAGGCAGCACGGTTTGCAAGCCCTCTGCCCCCACCCCACCATGTCTCTTGGGCGATAGGTGATGAACAACTGATAGGTGGCAGAGGAAGGGACTCACCCACAGAGGCTATATCAGCCAGCTGATCCTCAGCCTCTTCGGGGTTGAGCAAATCTGTCTTGCTTTTCTTTATGGTGGTTCTCCGCAGAGCTCCAACAATGGAAACATGGCAAGAGAAAAAGACGTTACCCTTTTTGCAACACAGACCATATGGACACAGTGTGTCCTTGGATTTAACTCTCACGGCAACTGTTCTCACGGGAACTAATAGTATACCCATTTTTCAGATGTGTAAACTGAGGTTCAAGGTGGCACTATCACTTTGCTTAAAGGGGTAAAGACAAGAATCAAGTCGGGTTCAGTCCGACTCCAGGTCTGGGCCCTCAGCCACTATTTTCCTTCTGGTTTATTTATTTATTTGTTTATTTATTTTGAGACAGAATCTTGCTCTGTCACCCAGAGAGTGGTGTGATCTTGGCTTACTGCAACCTCTGCCTCCTGAGTTCAAGCGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCAAACTCTTGACCTCAAGTGATTTGCCTGCCTTGGCCTCCAAAAGTGCTAGGATTACAGGCGTGAGCCGCCCCACTCAGCCTCTATTTTTAAATTCTAAGAAACCTCACTTTCTTATGAAAACAGTCCACCCCTTGACCTGTAGCATACTCGCTAGGCAGGCTGCAATTTTGGGATTCTGCCCCCATATTCAAGCTATACACCCCAGGGGCTCCACAGCAGACAAGTTCAGGTGTAGACTTCCAATAAAAAGATTTAGGTACCCTAAATGAGTTAGATTACCTAACTCATTTAGGGGAGTTAGGTAATCTCCCCTCCCCAACTAAGATAATAAAATTCATTTTATAACCTTCTGGGACGCAGTGCCAGTTCTTTTATTTCCCTCAAATCTCTCAGATTTTTAATCAAAAGTCATCACCCTGTCTAACCAGCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACCGCAACTTCCGTCTCCCAGGTTCAAGCAATTCTCGTAGTTTAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCATGACACCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGATGGCCAGGCCGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCCCTGTCTAACCAGTTTTCTAAAGTATGAGAAGATAAATCTCAAGCAAGAAGTTGCATTTTTCAGGGAGTACTATTATTTTTCTTATTGCTGTTATTATTATATTGCAGACATATTATTCTGGCCTATCTCTAAATTCTTTTTTTTTCTTTTGAAACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGGAGTGGTGCCCACTGCAACCTCGACCTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCATAGGTGCGTGTGCCCCCACATCTGGCTAAGTTTATTTTTTGTAGAGACGGAACCTCATTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGTGTTCCTCCTGTCTTGGCCTCCCAAAGTGTTGGGATTACAGATGTGAGCCACAGACAGACCGCATCCAACCCTATCTCTAAATTCTAGGAAACTTTACTTTCATGAAGCCTCAGGTTGGATACACAGTGACTCTTACAGTCTGTCCCCTGACTCCCAGCTATGCTGGGGAGGTTGGGCTTTTGGACACCTTTTTAATGGTCCCTCCTTTCATATTCAGGTTTCCAGGGGACCATGAATTGACATCTACACTCCCAGCATTTTGGGAGGCCAAGGTGTGCAGATCATTTGAGGCAAGGAGTTCAAGACCAGCCCGGCCAACAT
|
TTGAACGGCTGATCTTAGGAGATCCTCCTGCACTGGCCTCCCAAAGCAGTGGGATTACAGGCGTGAACCACTGTACCTCGTCATAAAACAGATTTTAAACAATGGAGGTAACGTAACACGTGAGACAGACATAATTGATCAAATACTCAAGACACCTACTGAGCGCTCCAATTCTTGACATTTGCTTACAGGAAATTAAACAGATGCACACACGAGTGGAAGCAGAATGAGTTCTCCATTACAAAGAAAAGCGTGTTTTGGCTGGAAATTAAAAATGCAAATGAAAACAAGCTTTAAGGTTTCATTACAAACCCACTTAACTGGGAAAGGAAATTAAATTGGTAATATTCGATGGCCTGGGTGGGGAATCCATGAACATATGCATACTTGGCAGGTTTATAAATGGGTTCCATGTTTTTGAAACTCAGAATGGCTCTTTGAATAATGAGTTGAAAAGCTGTTAATATCTTTGATCCTATAATTATCCCCAAGGAAATACGCCCAAAGGGTGGGGGGAGTCATTGTACGTAAATGTGCACAGCAGTGTTCTTCGTAAGAGAAATTATTGGAAACAACTCAAACACCCTATAATAGAGCTATGGCTAAACAAACCATAGTGTATCCACCCTACGAGATATGTGATCGCAATGGAAATTATGCCTAAACTCAGCAATAAGGTTATAAACTAGGGGCGAGCGATAAAAGGGGAATACGAAATAGTGGATCAGAAACTATGGATCAGAAACACATGGATGTACTAACTTCCCTCCTTCCTTCACTTCTCTCCCTCCTTCTCTTCCTCCCTTCCTCTTTCTCTTGCCATCCTTTCTTCCTCTAAACTGCGGCCACACAGTTTCCCAAGCAGCCTAAATTCCTTCTCCCCTCAATCTTATTCCAGTCTTATTTCCTCTGCCTGGATGCTCTTCCTTCCATTAAAAACAAAAACCCATTAAAGAACAACAACAACAATAACAATACATTCTCACTTTAGAAGGTCAAAATCAACATCATCACAGCCAATGAATCAATAGGACAGAGGAGTGAGAAGGGAAAGAATAAATGTTCCCTCCTCCCTCGAACTCTGGCCCTTGTGGTGGCAAAGGTCTGAGCCCTGCCTCTCACACTGTTCCTTCTGCTATCACCACCACAGTGATCTCCTACCCATCCTTCAGTTCCCAGCTTAACCGTCACTTCCTCCAGGTAGCCTTCCCTGACTGCTCCCCATCCTTCTAGAGCAAGCTAAGCCCAGAGCCTCTCCCTGAAGTGCCATTACCATTACAGGTTTATTTGTGTAATTCTCTGTTTAATTTCTATTTCCTGCACTGGACTGTGAGCTCCATGTAGGTAGGGATTTGGTTTGTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGATGAGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGTGATGCTCCCGCCTCAGCCTCCAGAGTAGCTGGAACTACAGGCTAATTTTTTTCGTATTTTTAGTAGAGCCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACATCAGGTGATCCGCTCATCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCTGGCTCAGTTTGTGTCTTTTTTTTTTTTTCTGTGCCCAGGCTGGAGTGCAGTAACACAATAATGGCTTATTGCAGCCTCCACTTCCCAGGCTCAAGTGATCCTCCCAGCTCAGCCTCGTGACTGCCTTGTCTTGTTTGCAACCAAGCACCTAATATAAGCAGGTCCCCCATGAATACTTCCCGAATGAGTCACAAACATTCACCAACTTGACTGGGAGCTTCGTCCCTGCCAGGTGCTGGTTTGCCATGCTTCATGGGGATCATTTAGTTGAATTCCCACAAAATAATGAGAAGCTAGGCACGGATGTTATTCCCATAATGATGTAATCTGCCCAGGACACACGCACAGGTGGGAAAGGGTGGAGCTGAGACCCAAATCCAGGCAGCACGGTTTGCAAGCCCTCTTGCCCCCACCCCACCATGTCTCTTGGGCGATAGGTGATGAACAACTGATAGGTGGCAGAGGAAGGGACTCACCCACAGAGGCTATATCAGCCAGCTGATCCTCAGCCTCTTCGGGGTTGAGCAAATCTGTCTTGCTTTTCTTTATGGTGGTTCTCCGCAGAGCTCCAACAATGGAAACATGGCAAGAGAAAAAGACGTTACCCTTTTTGCAACACAGACCATATGGACACAGTGTGTCCTTGGATTTAACTCTCACGGCAACTGTTCTCACGGGAACTAATAGTATACCCATTTTTCAGATGTGTAAACTGAGGTTCAAGGTGGCACTATCACTTTGCTTAAAGGGGTAAAGACAAGAATCAAGTCGGGTTCAGTCCGACTCCAGGTCTGGGCCCTCAGCCACTATTTTCCTTCTGGTTTATTTATTTATTTGTTTATTTATTTTGAGACAGAATCTTGCTCTGTCACCCAGAGAGTGGTGTGATCTTGGCTTACTGCAACCTCTGCCTCCTGAGTTCAAGCGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCAAACTCTTGACCTCAAGTGATTTGCCTGCCTTGGCCTCCAAAAGTGCTAGGATTACAGGCGTGAGCCGCCCCACTCAGCCTCTATTTTTAAATTCTAAGAAACCTCACTTTCTTATGAAAACAGTCCACCCCTTGACCTGTAGCATACTCGCTAGGCAGGCTGCAATTTTGGGATTCTGCCCCCATATTCAAGCTATACACCCCAGGGGCTCCACAGCAGACAAGTTCAGGTGTAGACTTCCAATAAAAAGATTTAGGTACCCTAAATGAGTTAGATTACCTAACTCATTTAGGGGAGTTAGGTAATCTCCCCTCCCCAACTAAGATAATAAAATTCATTTTATAACCTTCTGGGACGCAGTGCCAGTTCTTTTATTTCCCTCAAATCTCTCAGATTTTTAATCAAAAGTCATCACCCTGTCTAACCAGCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACCGCAACTTCCGTCTCCCAGGTTCAAGCAATTCTCGTAGTTTAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCATGACACCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGATGGCCAGGCCGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCCCTGTCTAACCAGTTTTCTAAAGTATGAGAAGATAAATCTCAAGCAAGAAGTTGCATTTTTCAGGGAGTACTATTATTTTTCTTATTGCTGTTATTATTATATTGCAGACATATTATTCTGGCCTATCTCTAAATTCTTTTTTTTTCTTTTGAAACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGGAGTGGTGCCCACTGCAACCTCGACCTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCATAGGTGCGTGTGCCCCCACATCTGGCTAAGTTTATTTTTTGTAGAGACGGAACCTCATTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGTGTTCCTCCTGTCTTGGCCTCCCAAAGTGTTGGGATTACAGATGTGAGCCACAGACAGACCGCATCCAACCCTATCTCTAAATTCTAGGAAACTTTACTTTCATGAAGCCTCAGGTTGGATACACAGTGACTCTTACAGTCTGTCCCCTGACTCCCAGCTATGCTGGGGAGGTTGGGCTTTTGGACACCTTTTTAATGGTCCCTCCTTTCATATTCAGGTTTCCAGGGGACCATGAATTGACATCTACACTCCCAGCATTTTGGGAGGCCAAGGTGTGCAGATCATTTGAGGCAAGGAGTTCAAGACCAGCCCGGCCAACA
|
benign
| 300,212 |
A genetic alteration at chromosome 19, position 13330253, in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2', 'Global_developmental_delay']
|
ATAAAACAGATTTTAAACAATGGAGGTAACGTAACACGTGAGACAGACATAATTGATCAAATACTCAAGACACCTACTGAGCGCTCCAATTCTTGACATTTGCTTACAGGAAATTAAACAGATGCACACACGAGTGGAAGCAGAATGAGTTCTCCATTACAAAGAAAAGCGTGTTTTGGCTGGAAATTAAAAATGCAAATGAAAACAAGCTTTAAGGTTTCATTACAAACCCACTTAACTGGGAAAGGAAATTAAATTGGTAATATTCGATGGCCTGGGTGGGGAATCCATGAACATATGCATACTTGGCAGGTTTATAAATGGGTTCCATGTTTTTGAAACTCAGAATGGCTCTTTGAATAATGAGTTGAAAAGCTGTTAATATCTTTGATCCTATAATTATCCCCAAGGAAATACGCCCAAAGGGTGGGGGGAGTCATTGTACGTAAATGTGCACAGCAGTGTTCTTCGTAAGAGAAATTATTGGAAACAACTCAAACACCCTATAATAGAGCTATGGCTAAACAAACCATAGTGTATCCACCCTACGAGATATGTGATCGCAATGGAAATTATGCCTAAACTCAGCAATAAGGTTATAAACTAGGGGCGAGCGATAAAAGGGGAATACGAAATAGTGGATCAGAAACTATGGATCAGAAACACATGGATGTACTAACTTCCCTCCTTCCTTCACTTCTCTCCCTCCTTCTCTTCCTCCCTTCCTCTTTCTCTTGCCATCCTTTCTTCCTCTAAACTGCGGCCACACAGTTTCCCAAGCAGCCTAAATTCCTTCTCCCCTCAATCTTATTCCAGTCTTATTTCCTCTGCCTGGATGCTCTTCCTTCCATTAAAAACAAAAACCCATTAAAGAACAACAACAACAATAACAATACATTCTCACTTTAGAAGGTCAAAATCAACATCATCACAGCCAATGAATCAATAGGACAGAGGAGTGAGAAGGGAAAGAATAAATGTTCCCTCCTCCCTCGAACTCTGGCCCTTGTGGTGGCAAAGGTCTGAGCCCTGCCTCTCACACTGTTCCTTCTGCTATCACCACCACAGTGATCTCCTACCCATCCTTCAGTTCCCAGCTTAACCGTCACTTCCTCCAGGTAGCCTTCCCTGACTGCTCCCCATCCTTCTAGAGCAAGCTAAGCCCAGAGCCTCTCCCTGAAGTGCCATTACCATTACAGGTTTATTTGTGTAATTCTCTGTTTAATTTCTATTTCCTGCACTGGACTGTGAGCTCCATGTAGGTAGGGATTTGGTTTGTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGATGAGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGTGATGCTCCCGCCTCAGCCTCCAGAGTAGCTGGAACTACAGGCTAATTTTTTTCGTATTTTTAGTAGAGCCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACATCAGGTGATCCGCTCATCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCTGGCTCAGTTTGTGTCTTTTTTTTTTTTTCTGTGCCCAGGCTGGAGTGCAGTAACACAATAATGGCTTATTGCAGCCTCCACTTCCCAGGCTCAAGTGATCCTCCCAGCTCAGCCTCGTGACTGCCTTGTCTTGTTTGCAACCAAGCACCTAATATAAGCAGGTCCCCCATGAATACTTCCCGAATGAGTCACAAACATTCACCAACTTGACTGGGAGCTTCGTCCCTGCCAGGTGCTGGTTTGCCATGCTTCATGGGGATCATTTAGTTGAATTCCCACAAAATAATGAGAAGCTAGGCACGGATGTTATTCCCATAATGATGTAATCTGCCCAGGACACACGCACAGGTGGGAAAGGGTGGAGCTGAGACCCAAATCCAGGCAGCACGGTTTGCAAGCCCTCTGCCCCCACCCCACCATGTCTCTTGGGCGATAGGTGATGAACAACTGATAGGTGGCAGAGGAAGGGACTCACCCACAGAGGCTATATCAGCCAGCTGATCCTCAGCCTCTTCGGGGTTGAGCAAATCTGTCTTGCTTTTCTTTATGGTGGTTCTCCGCAGAGCTCCAACAATGGAAACATGGCAAGAGAAAAAGACGTTACCCTTTTTGCAACACAGACCATATGGACACAGTGTGTCCTTGGATTTAACTCTCACGGCAACTGTTCTCACGGGAACTAATAGTATACCCATTTTTCAGATGTGTAAACTGAGGTTCAAGGTGGCACTATCACTTTGCTTAAAGGGGTAAAGACAAGAATCAAGTCGGGTTCAGTCCGACTCCAGGTCTGGGCCCTCAGCCACTATTTTCCTTCTGGTTTATTTATTTATTTGTTTATTTATTTTGAGACAGAATCTTGCTCTGTCACCCAGAGAGTGGTGTGATCTTGGCTTACTGCAACCTCTGCCTCCTGAGTTCAAGCGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCAAACTCTTGACCTCAAGTGATTTGCCTGCCTTGGCCTCCAAAAGTGCTAGGATTACAGGCGTGAGCCGCCCCACTCAGCCTCTATTTTTAAATTCTAAGAAACCTCACTTTCTTATGAAAACAGTCCACCCCTTGACCTGTAGCATACTCGCTAGGCAGGCTGCAATTTTGGGATTCTGCCCCCATATTCAAGCTATACACCCCAGGGGCTCCACAGCAGACAAGTTCAGGTGTAGACTTCCAATAAAAAGATTTAGGTACCCTAAATGAGTTAGATTACCTAACTCATTTAGGGGAGTTAGGTAATCTCCCCTCCCCAACTAAGATAATAAAATTCATTTTATAACCTTCTGGGACGCAGTGCCAGTTCTTTTATTTCCCTCAAATCTCTCAGATTTTTAATCAAAAGTCATCACCCTGTCTAACCAGCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACCGCAACTTCCGTCTCCCAGGTTCAAGCAATTCTCGTAGTTTAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCATGACACCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGATGGCCAGGCCGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCCCTGTCTAACCAGTTTTCTAAAGTATGAGAAGATAAATCTCAAGCAAGAAGTTGCATTTTTCAGGGAGTACTATTATTTTTCTTATTGCTGTTATTATTATATTGCAGACATATTATTCTGGCCTATCTCTAAATTCTTTTTTTTTCTTTTGAAACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGGAGTGGTGCCCACTGCAACCTCGACCTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCATAGGTGCGTGTGCCCCCACATCTGGCTAAGTTTATTTTTTGTAGAGACGGAACCTCATTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGTGTTCCTCCTGTCTTGGCCTCCCAAAGTGTTGGGATTACAGATGTGAGCCACAGACAGACCGCATCCAACCCTATCTCTAAATTCTAGGAAACTTTACTTTCATGAAGCCTCAGGTTGGATACACAGTGACTCTTACAGTCTGTCCCCTGACTCCCAGCTATGCTGGGGAGGTTGGGCTTTTGGACACCTTTTTAATGGTCCCTCCTTTCATATTCAGGTTTCCAGGGGACCATGAATTGACATCTACACTCCCAGCATTTTGGGAGGCCAAGGTGTGCAGATCATTTGAGGCAAGGAGTTCAAGACCAGCCCGGCCAACATGGCGAAACCCCATCTCTATCAACAATATAAAAATTAGCCAGGCATGGTGGCTCATGCTTGTAATCTCAGCTTCTCATGAGGC
|
ATAAAACAGATTTTAAACAATGGAGGTAACGTAACACGTGAGACAGACATAATTGATCAAATACTCAAGACACCTACTGAGCGCTCCAATTCTTGACATTTGCTTACAGGAAATTAAACAGATGCACACACGAGTGGAAGCAGAATGAGTTCTCCATTACAAAGAAAAGCGTGTTTTGGCTGGAAATTAAAAATGCAAATGAAAACAAGCTTTAAGGTTTCATTACAAACCCACTTAACTGGGAAAGGAAATTAAATTGGTAATATTCGATGGCCTGGGTGGGGAATCCATGAACATATGCATACTTGGCAGGTTTATAAATGGGTTCCATGTTTTTGAAACTCAGAATGGCTCTTTGAATAATGAGTTGAAAAGCTGTTAATATCTTTGATCCTATAATTATCCCCAAGGAAATACGCCCAAAGGGTGGGGGGAGTCATTGTACGTAAATGTGCACAGCAGTGTTCTTCGTAAGAGAAATTATTGGAAACAACTCAAACACCCTATAATAGAGCTATGGCTAAACAAACCATAGTGTATCCACCCTACGAGATATGTGATCGCAATGGAAATTATGCCTAAACTCAGCAATAAGGTTATAAACTAGGGGCGAGCGATAAAAGGGGAATACGAAATAGTGGATCAGAAACTATGGATCAGAAACACATGGATGTACTAACTTCCCTCCTTCCTTCACTTCTCTCCCTCCTTCTCTTCCTCCCTTCCTCTTTCTCTTGCCATCCTTTCTTCCTCTAAACTGCGGCCACACAGTTTCCCAAGCAGCCTAAATTCCTTCTCCCCTCAATCTTATTCCAGTCTTATTTCCTCTGCCTGGATGCTCTTCCTTCCATTAAAAACAAAAACCCATTAAAGAACAACAACAACAATAACAATACATTCTCACTTTAGAAGGTCAAAATCAACATCATCACAGCCAATGAATCAATAGGACAGAGGAGTGAGAAGGGAAAGAATAAATGTTCCCTCCTCCCTCGAACTCTGGCCCTTGTGGTGGCAAAGGTCTGAGCCCTGCCTCTCACACTGTTCCTTCTGCTATCACCACCACAGTGATCTCCTACCCATCCTTCAGTTCCCAGCTTAACCGTCACTTCCTCCAGGTAGCCTTCCCTGACTGCTCCCCATCCTTCTAGAGCAAGCTAAGCCCAGAGCCTCTCCCTGAAGTGCCATTACCATTACAGGTTTATTTGTGTAATTCTCTGTTTAATTTCTATTTCCTGCACTGGACTGTGAGCTCCATGTAGGTAGGGATTTGGTTTGTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGATGAGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGTGATGCTCCCGCCTCAGCCTCCAGAGTAGCTGGAACTACAGGCTAATTTTTTTCGTATTTTTAGTAGAGCCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGACATCAGGTGATCCGCTCATCTCAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCTGGCTCAGTTTGTGTCTTTTTTTTTTTTTCTGTGCCCAGGCTGGAGTGCAGTAACACAATAATGGCTTATTGCAGCCTCCACTTCCCAGGCTCAAGTGATCCTCCCAGCTCAGCCTCGTGACTGCCTTGTCTTGTTTGCAACCAAGCACCTAATATAAGCAGGTCCCCCATGAATACTTCCCGAATGAGTCACAAACATTCACCAACTTGACTGGGAGCTTCGTCCCTGCCAGGTGCTGGTTTGCCATGCTTCATGGGGATCATTTAGTTGAATTCCCACAAAATAATGAGAAGCTAGGCACGGATGTTATTCCCATAATGATGTAATCTGCCCAGGACACACGCACAGGTGGGAAAGGGTGGAGCTGAGACCCAAATCCAGGCAGCACGGTTTGCAAGCCCTCTGCCCCCACCCCACCATGTCTCTTGGGCGATAGGTGATGAACAACTGATAGGTGGCAGAGGAAGGGACTCACCCACAGAGGCTATATATCAGCCAGCTGATCCTCAGCCTCTTCGGGGTTGAGCAAATCTGTCTTGCTTTTCTTTATGGTGGTTCTCCGCAGAGCTCCAACAATGGAAACATGGCAAGAGAAAAAGACGTTACCCTTTTTGCAACACAGACCATATGGACACAGTGTGTCCTTGGATTTAACTCTCACGGCAACTGTTCTCACGGGAACTAATAGTATACCCATTTTTCAGATGTGTAAACTGAGGTTCAAGGTGGCACTATCACTTTGCTTAAAGGGGTAAAGACAAGAATCAAGTCGGGTTCAGTCCGACTCCAGGTCTGGGCCCTCAGCCACTATTTTCCTTCTGGTTTATTTATTTATTTGTTTATTTATTTTGAGACAGAATCTTGCTCTGTCACCCAGAGAGTGGTGTGATCTTGGCTTACTGCAACCTCTGCCTCCTGAGTTCAAGCGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGCACCACCACGCCTGGCTAATTTTTGTATTATTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCAAACTCTTGACCTCAAGTGATTTGCCTGCCTTGGCCTCCAAAAGTGCTAGGATTACAGGCGTGAGCCGCCCCACTCAGCCTCTATTTTTAAATTCTAAGAAACCTCACTTTCTTATGAAAACAGTCCACCCCTTGACCTGTAGCATACTCGCTAGGCAGGCTGCAATTTTGGGATTCTGCCCCCATATTCAAGCTATACACCCCAGGGGCTCCACAGCAGACAAGTTCAGGTGTAGACTTCCAATAAAAAGATTTAGGTACCCTAAATGAGTTAGATTACCTAACTCATTTAGGGGAGTTAGGTAATCTCCCCTCCCCAACTAAGATAATAAAATTCATTTTATAACCTTCTGGGACGCAGTGCCAGTTCTTTTATTTCCCTCAAATCTCTCAGATTTTTAATCAAAAGTCATCACCCTGTCTAACCAGCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACCGCAACTTCCGTCTCCCAGGTTCAAGCAATTCTCGTAGTTTAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCATGACACCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGATGGCCAGGCCGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCCCTGTCTAACCAGTTTTCTAAAGTATGAGAAGATAAATCTCAAGCAAGAAGTTGCATTTTTCAGGGAGTACTATTATTTTTCTTATTGCTGTTATTATTATATTGCAGACATATTATTCTGGCCTATCTCTAAATTCTTTTTTTTTCTTTTGAAACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGGAGTGGTGCCCACTGCAACCTCGACCTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCATAGGTGCGTGTGCCCCCACATCTGGCTAAGTTTATTTTTTGTAGAGACGGAACCTCATTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGTGTTCCTCCTGTCTTGGCCTCCCAAAGTGTTGGGATTACAGATGTGAGCCACAGACAGACCGCATCCAACCCTATCTCTAAATTCTAGGAAACTTTACTTTCATGAAGCCTCAGGTTGGATACACAGTGACTCTTACAGTCTGTCCCCTGACTCCCAGCTATGCTGGGGAGGTTGGGCTTTTGGACACCTTTTTAATGGTCCCTCCTTTCATATTCAGGTTTCCAGGGGACCATGAATTGACATCTACACTCCCAGCATTTTGGGAGGCCAAGGTGTGCAGATCATTTGAGGCAAGGAGTTCAAGACCAGCCCGGCCAACATGGCGAAACCCCATCTCTATCAACAATATAAAAATTAGCCAGGCATGGTGGCTCATGCTTGTAATCTCAGCTTCTCATGAG
|
pathogenic
| 300,214 |
Evaluate this variant at chromosome 19, position 13359742, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Developmental_and_epileptic_encephalopathy,_52', 'Episodic_ataxia_type_2', 'Migraine,_familial_hemiplegic,_1', 'Spinocerebellar_ataxia_type_6']
|
ATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGAGACCTTGTCTCCAAAAAAACAAAACAAAAATCTTCCCCAAAAATAAAATTATAAATGCATTTAGTCTTTGATCCTGCAATCCCACTTCTGGGAATGGAGACCCTCCAACCCCCTAGCTATATCTGCAAAAGTATGAAGAGGTACGTGCAACATGCTCCTGGCAGAGCAGCATCATGTTCCATGTCAGTGGACAGGAAGCCAGTCAAGCATTTCTCTTAATGGCAAACAAATAAAACTATGGGCAGCCACACAATAGAATGCTATGCAGCTGTGCAAAAGAATAAAGAAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCCAGACCTGCCTGGGCAACACGGAAGAACCCTGTCTCTACAAAAATTAGCTGGGCATACTAGTGTGCACCCGTGAAGAGACTGTCCATGTCCTGCAGTGGAAAGATCTCTAGAACGTGTGGTTATGAGAAAACAAAAATCACAGAATTGAACAGCATGTATAGAATGCTACTCCTTGGGATAAGAAAGAGGGGGGAGGACATAGATTCGATTATGCTTATAATTATAATTGCATAAATAAACATTGGAAGGATATTCTGAGGAACTAAAGGGGTTGCATATTGTGGGAAGAGGAAGTAGCATGCAAGTGGGGGCAGGGATACATCTTTCCAGAAACATCCCTAACATTTTTAAGATCTAGGGCAAGAGTACAAAAGCAGACCACATACTACGGGGAAATATTGAAAAGGTAACTAAATAAAACATGCTGTGTGCTTCTACTTTGCAAATATACCTTCCTTTACACTTTGGAAGGTCAGGGTGGAATTTAGAATCCGGATATCTGCACTGGGTCAAGGTGTGGGGAGAGCCAGCCCTGTCCTGTCCCTTTCTCTTCTTAGTCATGGCTCTGTCCTGCCAGAGGGGCTCCACACATATGTGTGGGCATTCCAGCTTGTACATCCAAGCTCTGGCCACATTTGTGTTAACAGCCACCCCTCGGATGTCCTTGGCCCTCAGTTGGGTTACGAACAGATCCATATGAGAATTGCACGCAAGTTCATGGAATCTGGCCATGGGCAGGGAATTCCAGGATCCTGGTAACTTAAAACATGGCCTACAAAGTGGGGCACAAGCTCTTGGTAGACACATCCCCTTGGCTCCAGGAACTTCTCATCCCACGGGGAGTGGTATGGCTGGAGAAGGACTGGGTGAGCCTCAGGGCAGGGACCCCTCGCCTACGTCCAAAGATATTACTCTATCTTTTATCTGTGTTGGTTTTTGGATCACATAACCTTTCCGTATTCAAAAATCTAAAATTATATCTAAACACTTGCACAATGAAAAATGATGTTGCATCTGGGGGCCCTCCAGACTTCTATGCCCTATAGTTAGAGTTCTGCTCATGAGCCCCTGTAATCTTCAAAAGCCTGAGCCTCAGGCCAGCTTCAGTGGGGCTGTGTTGTCCTTGGGCTGCCTTTCCCAGCTCAGGGTCCCTCCATTGCAGCCTTGGAGTCTCACTGGTCCCAGGAGGCCACCTCCCTGAGACTCTGATTGTCCACACACACTGTCCCAGCATCACTTACATTGTAGAGGAGATCAGTCCACCCTTCCATGGTTATGCACTGGAAAACAGTCAGCACTGCAAACAGGATGTTGTCGAACTGAGTGATCCCGTTGTTGGGCCCTTCCCAGTAGGGCTGACATTTGGTCCCATTGGGGCAGGTGCGGGCGGGCTCTTCTGTCCCACATGGAGCCGGAGACTCACCCTGAATGTCATCTACAAAAGGGAAGGGGAGAAAAGTCAGGGGAAGGAGCAGGGAAAACCAGCTCTGAGAAATAGGGACCAGTGACTCTATAATGCTGTTGGAACGAATAACTTTTGGGACAAACGTGATCAGTCTTCAAAGAGATCAATGTTTGGCTTTGGGGGTCTATTATTGGTTTTCTATTGATTAATTTCTTCTCTGAGCTTTACTACTTTTCTCTTTATGTTTTCCATGAGTTTTTTTTTTTTTTCTATTCTTTTCCTAAACTTTTGAGATGGATGGATTAACTGCCTTTAAGGCTATAAATTGCCTTTAAGTGTGGCTTTACCTGCATCTCAACATTTTGTCATGCATTATCATTATTGTTCAAGTAAAATATTTTCTAATTTCCATTATTATTTCTTCTTTGACCTATGGGTAATTTAGATGTATTTGTTTTTTAAAAAAACTTATTAGGTGTCTGTGTGTGTGTGTGTGTATATATATATATATATATATGAAGACAGAGGGGAGAGGAAGACAGGGAGAGAACGGGGGGAGAGAGAGAGCGAGAGAGAAGTATAAAACAATATAATGATTCACCATGTACCTATCACCAATTTAGACACTTACCTATTTACTTCTGGCAAATTTTGTTTCATCTATTCCTCTGTATCCCCTCCAAACACTTTGCCTTGCCACTAGAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCACCTCACTACAATCTCCGACTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTATAGGTGGCCACCACCACACCTGGATAATCTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAGAATATTTTTAAAGCAAAGCTCAGACATCATATCATTTCATCCATAAATGAGAGGCATGTCTGTTAATCTGCAAACACTTTTAGAGTTCTCTTTTTGTTACTGATTTCCAGCTTAATTGCATTACGGTCAGAAAATATGTTTTGTATTTGTATTTTTTTCAGCTTTTTGACCTCTGTTGAGACAAACTTTATGGTCCATAATATAGTCAGTTTTAGTAAATGTGCCGTGTGCATGGTGTAGCTGGTAAGTGCAGCCTTCTTCCGACATCCATTAGGACAAATTTGTCAAGCGCATTGTGTTATTCTCCTATAAGCCTTGCTGATTTTTTTCTTCTTGGGATGTACTGGGCTCAGGGAGCTGTTCTGGGGGTGAGGGACACCAGTACACACAGTTCCTACCCTTGCCTAAGGGTAAGGAACAGGAGCTGAGCTTTCTCCCCAAATAGCAGGAGGCAGGCTGTGAAAATGCCACAAGGAGAGAGAAACGTGCCAACAGACACCCCTTTTGCTGGAAACCAAAGACAGCTTCCTGGGGAGGTGGCAGTCAGGCTGAACGCTAAAGGTCAGTCCAAATCTTAAGGTATTGATGGGGTAGGGAGGCAGGAAAGCTCACATCTGGGAGTGTCCTCATTTTACCAGCACAGCGGGTCTGAGAGGACCTTATTCTGTGAGCGATGCTTTTGAAGGTTTTCAAAGACGACCGTGGCATTGTCGGACAAGAAAACAAACAGCTGAGTGTGTGTAAACTCAAGCTTCCTACTCAACAAAAATATCTCTCAATGTATGTGCTACAGACTTCGCAGCACCAATTCTCTGCTCCCTTGACTGAGCACACAGCAGAGGGAAATAAACCAATGCTGAATGAATGAATCTTGTTGGCCTTTCAAGCTCTGGCTGAATAGAAACTCCAAGTCTAGCCTCGCCATGAACTTAAGTTGTTGGAAACGCCTTCCTCACTTATGCTGGACTTGGTACATGAACTATTATTTGATAAATACAGGTTGGAAGGCA
|
ATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGAGACCTTGTCTCCAAAAAAACAAAACAAAAATCTTCCCCAAAAATAAAATTATAAATGCATTTAGTCTTTGATCCTGCAATCCCACTTCTGGGAATGGAGACCCTCCAACCCCCTAGCTATATCTGCAAAAGTATGAAGAGGTACGTGCAACATGCTCCTGGCAGAGCAGCATCATGTTCCATGTCAGTGGACAGGAAGCCAGTCAAGCATTTCTCTTAATGGCAAACAAATAAAACTATGGGCAGCCACACAATAGAATGCTATGCAGCTGTGCAAAAGAATAAAGAAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCCAGACCTGCCTGGGCAACACGGAAGAACCCTGTCTCTACAAAAATTAGCTGGGCATACTAGTGTGCACCCGTGAAGAGACTGTCCATGTCCTGCAGTGGAAAGATCTCTAGAACGTGTGGTTATGAGAAAACAAAAATCACAGAATTGAACAGCATGTATAGAATGCTACTCCTTGGGATAAGAAAGAGGGGGGAGGACATAGATTCGATTATGCTTATAATTATAATTGCATAAATAAACATTGGAAGGATATTCTGAGGAACTAAAGGGGTTGCATATTGTGGGAAGAGGAAGTAGCATGCAAGTGGGGGCAGGGATACATCTTTCCAGAAACATCCCTAACATTTTTAAGATCTAGGGCAAGAGTACAAAAGCAGACCACATACTACGGGGAAATATTGAAAAGGTAACTAAATAAAACATGCTGTGTGCTTCTACTTTGCAAATATACCTTCCTTTACACTTTGGAAGGTCAGGGTGGAATTTAGAATCCGGATATCTGCACTGGGTCAAGGTGTGGGGAGAGCCAGCCCTGTCCTGTCCCTTTCTCTTCTTAGTCATGGCTCTGTCCTGCCAGAGGGGCTCCACACATATGTGTGGGCATTCCAGCTTGTACATCCAAGCTCTGGCCACATTTGTGTTAACAGCCACCCCTCGGATGTCCTTGGCCCTCAGTTGGGTTACGAACAGATCCATATGAGAATTGCACGCAAGTTCATGGAATCTGGCCATGGGCAGGGAATTCCAGGATCCTGGTAACTTAAAACATGGCCTACAAAGTGGGGCACAAGCTCTTGGTAGACACATCCCCTTGGCTCCAGGAACTTCTCATCCCACGGGGAGTGGTATGGCTGGAGAAGGACTGGGTGAGCCTCAGGGCAGGGACCCCTCGCCTACGTCCAAAGATATTACTCTATCTTTTATCTGTGTTGGTTTTTGGATCACATAACCTTTCCGTATTCAAAAATCTAAAATTATATCTAAACACTTGCACAATGAAAAATGATGTTGCATCTGGGGGCCCTCCAGACTTCTATGCCCTATAGTTAGAGTTCTGCTCATGAGCCCCTGTAATCTTCAAAAGCCTGAGCCTCAGGCCAGCTTCAGTGGGGCTGTGTTGTCCTTGGGCTGCCTTTCCCAGCTCAGGGTCCCTCCATTGCAGCCTTGGAGTCTCACTGGTCCCAGGAGGCCACCTCCCTGAGACTCTGATTGTCCACACACACTGTCCCAGCATCACTTACATTGTAGAGGAGATCAGTCCACCCTTCCATGGTTATGCACTGGAAAACAGTCAGCACTGCAAACAGGATGTTGTCGAACTGAGTGATCCCGTTGTTGGGCCCTTCCCAGTAGGGCTGACATTTGGTCCCATTGGGGCGGTGCGGGCGGGCTCTTCTGTCCCACATGGAGCCGGAGACTCACCCTGAATGTCATCTACAAAAGGGAAGGGGAGAAAAGTCAGGGGAAGGAGCAGGGAAAACCAGCTCTGAGAAATAGGGACCAGTGACTCTATAATGCTGTTGGAACGAATAACTTTTGGGACAAACGTGATCAGTCTTCAAAGAGATCAATGTTTGGCTTTGGGGGTCTATTATTGGTTTTCTATTGATTAATTTCTTCTCTGAGCTTTACTACTTTTCTCTTTATGTTTTCCATGAGTTTTTTTTTTTTTTCTATTCTTTTCCTAAACTTTTGAGATGGATGGATTAACTGCCTTTAAGGCTATAAATTGCCTTTAAGTGTGGCTTTACCTGCATCTCAACATTTTGTCATGCATTATCATTATTGTTCAAGTAAAATATTTTCTAATTTCCATTATTATTTCTTCTTTGACCTATGGGTAATTTAGATGTATTTGTTTTTTAAAAAAACTTATTAGGTGTCTGTGTGTGTGTGTGTGTATATATATATATATATATATGAAGACAGAGGGGAGAGGAAGACAGGGAGAGAACGGGGGGAGAGAGAGAGCGAGAGAGAAGTATAAAACAATATAATGATTCACCATGTACCTATCACCAATTTAGACACTTACCTATTTACTTCTGGCAAATTTTGTTTCATCTATTCCTCTGTATCCCCTCCAAACACTTTGCCTTGCCACTAGAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCACCTCACTACAATCTCCGACTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTATAGGTGGCCACCACCACACCTGGATAATCTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAGAATATTTTTAAAGCAAAGCTCAGACATCATATCATTTCATCCATAAATGAGAGGCATGTCTGTTAATCTGCAAACACTTTTAGAGTTCTCTTTTTGTTACTGATTTCCAGCTTAATTGCATTACGGTCAGAAAATATGTTTTGTATTTGTATTTTTTTCAGCTTTTTGACCTCTGTTGAGACAAACTTTATGGTCCATAATATAGTCAGTTTTAGTAAATGTGCCGTGTGCATGGTGTAGCTGGTAAGTGCAGCCTTCTTCCGACATCCATTAGGACAAATTTGTCAAGCGCATTGTGTTATTCTCCTATAAGCCTTGCTGATTTTTTTCTTCTTGGGATGTACTGGGCTCAGGGAGCTGTTCTGGGGGTGAGGGACACCAGTACACACAGTTCCTACCCTTGCCTAAGGGTAAGGAACAGGAGCTGAGCTTTCTCCCCAAATAGCAGGAGGCAGGCTGTGAAAATGCCACAAGGAGAGAGAAACGTGCCAACAGACACCCCTTTTGCTGGAAACCAAAGACAGCTTCCTGGGGAGGTGGCAGTCAGGCTGAACGCTAAAGGTCAGTCCAAATCTTAAGGTATTGATGGGGTAGGGAGGCAGGAAAGCTCACATCTGGGAGTGTCCTCATTTTACCAGCACAGCGGGTCTGAGAGGACCTTATTCTGTGAGCGATGCTTTTGAAGGTTTTCAAAGACGACCGTGGCATTGTCGGACAAGAAAACAAACAGCTGAGTGTGTGTAAACTCAAGCTTCCTACTCAACAAAAATATCTCTCAATGTATGTGCTACAGACTTCGCAGCACCAATTCTCTGCTCCCTTGACTGAGCACACAGCAGAGGGAAATAAACCAATGCTGAATGAATGAATCTTGTTGGCCTTTCAAGCTCTGGCTGAATAGAAACTCCAAGTCTAGCCTCGCCATGAACTTAAGTTGTTGGAAACGCCTTCCTCACTTATGCTGGACTTGGTACATGAACTATTATTTGATAAATACAGGTTGGAAGGCAN
|
pathogenic
| 300,251 |
Variant at chromosome position 13452888, chromosome 19, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
TATTTTGTGGAGATGTGGTCTTGCTATGTTGCTCAGGCTCGTCTCAAACTCCTGGGCCCAAGCAATCCTCCCACCTTGGCCTCCCAATGTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACCACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAACCCAAGGGCAATGATTTTAATTCCAGCCTCGAAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGG
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TATTTTGTGGAGATGTGGTCTTGCTATGTTGCTCAGGCTCGTCTCAAACTCCTGGGCCCAAGCAATCCTCCCACCTTGGCCTCCCAATGTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAACCCAAGGGCAATGATTTTAATTCCAGCCTCGAAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGN
|
pathogenic
| 300,288 |
Chromosome 19, position 13452943, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
GCCCAAGCAATCCTCCCACCTTGGCCTCCCAATGTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACCACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAACCCAAGGGCAATGATTTTAATTCCAGCCTCGAAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCCC
|
GCCCAAGCAATCCTCCCACCTTGGCCTCCCAATGTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACCACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAAACCCAAGGGCAATGATTTTAATTCCAGCCTCGAAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCC
|
pathogenic
| 300,291 |
Variant at chromosome position 13452978, chromosome 19, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_42', 'Episodic_ataxia_type_2']
|
GCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACCACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAACCCAAGGGCAATGATTTTAATTCCAGCCTCGAAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCCCATGATCTGGCTCTGGGCTCCAGGACTGAGAGCCTC
|
GCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACCACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAACCCAAGGGCAATGATTTTAATTCCAGCCTCGACAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCCCATGATCTGGCTCTGGGCTCCAGGACTGAGAGCCT
|
pathogenic
| 300,294 |
A mutation at chromosome position 13909940 on chromosome 19 in gene CC2D1A (coiled-coil and C2 domain containing 1A): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Intellectual_disability,_autosomal_recessive_3']
|
GGAAAGGCAATTTCATATGGTTAAACACGATGTTATCACATCATGATTGGTCATTAGCCAAGATAGGAAGACGGGTCTGCATGGCAAACCTGCATTGTGGTTAGGGGTTCTTTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTCTCGCCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACTGCAACCTCCGCTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGTTAATTTTGTATTTTTTAGTAGAGACGGGGTTTCTCCCTGTTGGTCAGGCTGGTCTGTCTCGAACTCCCCATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTGCCCGGCCTAATTTTTGTATTTTTAGTAGTGATGGGATTTCACCATGTTGGCCAGGCTAGTCTCGAACTGCTGACCTCAGGTGATCCCCCCACCTTGGTCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCTGGCCCTGTCGTCAGGGCTTCTAATTGCTCTTCTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTTTGGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGACACCGCCAGCACTCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGGATTACAGGCGTGAGCCACCGCATGCAGCCATCATGCTCTTGAAGCCCAACCTTCCCACACAGCCCCTCTGCTGAGGATGCTGGAAAGAAAAGCCCAAGTGTACAGAGTAGCTTTGCTTTGGGCAAAGTGTGGAGCCTGCTTCCTTCCCTCCTTCCCTCCCTCCCTCGCTTCCTTCTTTTTTTCCTTCCTTCCCTCCTTCCTCCCTCCCTCTCTCCCTCCCCGGCTCCATCTCTCTTTCTTTCTTTCCTTTCAACAGGGCTTTACTCTGTTGCCCAGGCGGAGTGCCGTAGCACAGTCATGGCTCACTGCAGCCTTGATCTCCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACACAGCACAACTCCCAGCTAATTTTAAAAAGTTTTTTTTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTGCTAAAAATACAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGATGTTGAGGCAGGAGAATGGCATGAACCCCGGAGGCGGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTGTCAAAAAAAAACAAAAAACAAAAAACTTTTTTTTTTTTTGTAGAGTTGGGGGTCTCACTGTATTGCCCAGGCTGGTCTGGAACTCCCAGACACAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACTGCGCCCAGCCAGGGGCCTGCTTTTCCCACTGAACTTGGCCCAGCAGCACATCATAAGTGTGGATTCAGATCAGAGAGCTGGGTCTCTTGCCCTTTGCCCCAGGTTGAACTGTGCCAGAGGGCCTGGCCTATCTTGGAACACCTGTTCTGGGCTTGTTCCAGCCTCCTGGCACTCCCCAGGGAAATGGCTTTCCCTGGGAGACCTTGTTTCCTTCCTCCCAAGGGGACTCTCTGGCCATCATGGCTGCCTCTAGCCATGTGGTGAACCAAAGGTCTGACTGAACCCTTGCTGTTCCCCTAGCTGGGCCTGCTGGTTGACCTCTCCCCAGATGGCCTGATGATCCCTGAGGACGGGGCTAACGATGAAGAACTGGAGGCTGAGTTCTTGGCTTTGGTCGGGGGCCAGCCCCCAGCCCTGGAGAAGCTCAAAGGCAAAGGTGAGATGGTTAACACACCCTCAGAACATTTTCTGATCTCCTGCAAGTGGTTCGGGCGCAGAACTGGGGGCACTGGGTAGGTAGGGGAAAGAAGACAGAGAAGACCCCTGTTCTCCTGGAGCCAATGATCTGGGTAAGAGAGTCAAGATCGACTCTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTCAGGAGATTGAGACCATCCCGGCTAACACGGTGAAACTCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATGGCGTGAACCAGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCGCTACAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATCAAGTCTGGACCGAGACTGAGAGTTGGAATCCGAGCTCTGCCACTTACTGGTTATGTGACTTGATGAGTCACATCATGTGCTTTGGCCTCAGTTTCACCATCTGTAAAACTGGAATAATAACCATGTTATAGGAGTTAATCTGGAGTCCATAAGTATTTCACCCAGGGCCCCCTCACACACAATAAGCTCATGTCAGCCAGGCACATTGGCTCATGCATGTAATCCCAGCACTCTGGGAGGCCAAGGTGGACAGATCACTTGGGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAAGCTTGGTGGCGAACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAATCCAGGAGGCAGCAGTTGCAGTGGGCAGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATCCTGTTTCCAAAAAACAAAAAAGAGAGAAGCTTCATTCAGGCATGAACTACTGTGCTGTTGGCTGTGAATTCAAAGTTAATGAATGAACGATATCTATTCAGGAAGGTGTCTTCAAACAGAAACACACATAGAGCAAGGTTGTGTATTGATCAGTTGATTAAAATTTTGTGACCAGAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAAGATCACTTGAGGCCAAGAGTTTGAGGCTGCAGTGAGCTCTGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATCCTGTCTCCAAAAAAGGTTATGACTGGAGATTCACAGGAACCTAAGCTTAAATTTCCCCTAGGAGCAACAGTCTTATAGTCATTAATTTAGTCTTCAAAGCAGCTTTATAGAATGTAACATAACTAATAACAAGATATTGGCAATATGCTATTCTAAGAGCTTCATTGACCTTCTCTGCTCCAACCTACCTATGAAGGAGGAACTGTTGTCATCCCCGTGTCACAGAGGGAGAAACTGAGGCTCAGAGAGGTGACATCACTTGCCGAAGTTCTCACAGAGAGAAAGTTGCAGAGCTGGGGTTTTTTTTGTTGTTGTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTGGAGACAAACCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCTCAGCTCACTGCGACCTCTGCCTCCTGGGCTTAAGTGATTCTCCTGCCTCAGCCTCTTTAGCAGCGGGGATTACACGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTTGGCTCACCGCAAGCTCCGCCTCCTAGGTTCACGCCATTCCCCTGCCTCAGGCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCAGCATGCCTGGCTAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGGT
|
GGAAAGGCAATTTCATATGGTTAAACACGATGTTATCACATCATGATTGGTCATTAGCCAAGATAGGAAGACGGGTCTGCATGGCAAACCTGCATTGTGGTTAGGGGTTCTTTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTTGCTCTCTCGCCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCCCACTGCAACCTCCGCTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGTTAATTTTGTATTTTTTAGTAGAGACGGGGTTTCTCCCTGTTGGTCAGGCTGGTCTGTCTCGAACTCCCCATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTGCCCGGCCTAATTTTTGTATTTTTAGTAGTGATGGGATTTCACCATGTTGGCCAGGCTAGTCTCGAACTGCTGACCTCAGGTGATCCCCCCACCTTGGTCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCACCTGGCCCTGTCGTCAGGGCTTCTAATTGCTCTTCTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTTTGGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGACACCGCCAGCACTCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGGATTACAGGCGTGAGCCACCGCATGCAGCCATCATGCTCTTGAAGCCCAACCTTCCCACACAGCCCCTCTGCTGAGGATGCTGGAAAGAAAAGCCCAAGTGTACAGAGTAGCTTTGCTTTGGGCAAAGTGTGGAGCCTGCTTCCTTCCCTCCTTCCCTCCCTCCCTCGCTTCCTTCTTTTTTTCCTTCCTTCCCTCCTTCCTCCCTCCCTCTCTCCCTCCCCGGCTCCATCTCTCTTTCTTTCTTTCCTTTCAACAGGGCTTTACTCTGTTGCCCAGGCGGAGTGCCGTAGCACAGTCATGGCTCACTGCAGCCTTGATCTCCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCACACAGCACAACTCCCAGCTAATTTTAAAAAGTTTTTTTTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTGCTAAAAATACAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGATGTTGAGGCAGGAGAATGGCATGAACCCCGGAGGCGGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTGTCAAAAAAAAACAAAAAACAAAAAACTTTTTTTTTTTTTGTAGAGTTGGGGGTCTCACTGTATTGCCCAGGCTGGTCTGGAACTCCCAGACACAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACTGCGCCCAGCCAGGGGCCTGCTTTTCCCACTGAACTTGGCCCAGCAGCACATCATAAGTGTGGATTCAGATCAGAGAGCTGGGTCTCTTGCCCTTTGCCCCAGGTTGAACTGTGCCAGAGGGCCTGGCCTATCTTGGAACACCTGTTCTGGGCTTGTTCCAGCCTCCTGGCACTCCCCAGGGAAATGGCTTTCCCTGGGAGACCTTGTTTCCTTCCTCCCAAGGGGACTCTCTGGCCATCATGGCTGCCTCTAGCCATGTGGTGAACCAAAGGTCTGACTGAACCCTTGCTGTTCCCCTAGCTGGGCCTGCTGGTTGACCTCTCCCCAGATGGCCTGATGATCCCTGAGGACGGGGCTAACGATGAAGAACTGGAGGCTGAGTTCTTGGCTTTGGTCGGGGGCCAGCCCCCAGCCCTGGACAGAAGCTCAAAGGCAAAGGTGAGATGGTTAACACACCCTCAGAACATTTTCTGATCTCCTGCAAGTGGTTCGGGCGCAGAACTGGGGGCACTGGGTAGGTAGGGGAAAGAAGACAGAGAAGACCCCTGTTCTCCTGGAGCCAATGATCTGGGTAAGAGAGTCAAGATCGACTCTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTCAGGAGATTGAGACCATCCCGGCTAACACGGTGAAACTCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATGGCGTGAACCAGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCGCTACAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATCAAGTCTGGACCGAGACTGAGAGTTGGAATCCGAGCTCTGCCACTTACTGGTTATGTGACTTGATGAGTCACATCATGTGCTTTGGCCTCAGTTTCACCATCTGTAAAACTGGAATAATAACCATGTTATAGGAGTTAATCTGGAGTCCATAAGTATTTCACCCAGGGCCCCCTCACACACAATAAGCTCATGTCAGCCAGGCACATTGGCTCATGCATGTAATCCCAGCACTCTGGGAGGCCAAGGTGGACAGATCACTTGGGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAAGCTTGGTGGCGAACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAATCCAGGAGGCAGCAGTTGCAGTGGGCAGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATCCTGTTTCCAAAAAACAAAAAAGAGAGAAGCTTCATTCAGGCATGAACTACTGTGCTGTTGGCTGTGAATTCAAAGTTAATGAATGAACGATATCTATTCAGGAAGGTGTCTTCAAACAGAAACACACATAGAGCAAGGTTGTGTATTGATCAGTTGATTAAAATTTTGTGACCAGAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAAGATCACTTGAGGCCAAGAGTTTGAGGCTGCAGTGAGCTCTGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATCCTGTCTCCAAAAAAGGTTATGACTGGAGATTCACAGGAACCTAAGCTTAAATTTCCCCTAGGAGCAACAGTCTTATAGTCATTAATTTAGTCTTCAAAGCAGCTTTATAGAATGTAACATAACTAATAACAAGATATTGGCAATATGCTATTCTAAGAGCTTCATTGACCTTCTCTGCTCCAACCTACCTATGAAGGAGGAACTGTTGTCATCCCCGTGTCACAGAGGGAGAAACTGAGGCTCAGAGAGGTGACATCACTTGCCGAAGTTCTCACAGAGAGAAAGTTGCAGAGCTGGGGTTTTTTTTGTTGTTGTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTGGAGACAAACCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCTCAGCTCACTGCGACCTCTGCCTCCTGGGCTTAAGTGATTCTCCTGCCTCAGCCTCTTTAGCAGCGGGGATTACACGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTTGGCTCACCGCAAGCTCCGCCTCCTAGGTTCACGCCATTCCCCTGCCTCAGGCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCAGCATGCCTGGCTAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG
|
pathogenic
| 300,321 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 13913299, gene CC2D1A (coiled-coil and C2 domain containing 1A): what disease(s) if pathogenic?
|
pathogenic; ['Intellectual_disability,_autosomal_recessive_3']
|
ACAGGAACCTAAGCTTAAATTTCCCCTAGGAGCAACAGTCTTATAGTCATTAATTTAGTCTTCAAAGCAGCTTTATAGAATGTAACATAACTAATAACAAGATATTGGCAATATGCTATTCTAAGAGCTTCATTGACCTTCTCTGCTCCAACCTACCTATGAAGGAGGAACTGTTGTCATCCCCGTGTCACAGAGGGAGAAACTGAGGCTCAGAGAGGTGACATCACTTGCCGAAGTTCTCACAGAGAGAAAGTTGCAGAGCTGGGGTTTTTTTTGTTGTTGTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTGGAGACAAACCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCTCAGCTCACTGCGACCTCTGCCTCCTGGGCTTAAGTGATTCTCCTGCCTCAGCCTCTTTAGCAGCGGGGATTACACGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTTGGCTCACCGCAAGCTCCGCCTCCTAGGTTCACGCCATTCCCCTGCCTCAGGCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCAGCATGCCTGGCTAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACTGCGCCCAGCCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACTTCAAGTGATCCTTCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACTGTGCCCGGTCTGCAGAGCTGGGTTTTGAATTCAGGTAGCCAGGCCCCAGACCTGAGGCTGAATAAGGAAGAGATGAAATGGGGAAGTCAGCGAGAAGTGGGATCACCTAGCGTGTCCAGGATGGGAAATGGGGGCTCTTGGTGTACGACCCTGGTCCACCTGGGGCATCCCCCTACCGCCAGGTCCCTTGCCGATGGAGGCCATTGAGAAGATGGCCAGCCTGTGCATGAGAGACCCGGATGAGGATGAGGAGGAGGGGACGGATGAGGACGACTTGGAGGCTGATGATGACCTGCTGGTGAGCACTGAGGGCGGGGTGGGGGCTCTGATCCGGTTGCCCCCATCCAGCAGGCCCTTATATCCTGCCCTGGCTGTGTGTCCCTGCAGGCGGAGCTAAATGAGGTCCTTGGAGAGGAGCAGAAGGCTTCAGAGACCCCACCTCCTGTGGCCCAGGTACAGTTTGGATGACTCCACTCCCTTGAACCACAACCCAACGGACAGCCCGGGGTTCAAGACCTAGCCTTTTTTATGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTACAACCTCTGCCTCCCAGGTTCAAGGGATCCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGTGTGTGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGATGGTGTTTCTCTGTGTTGGCCAGGCTGGTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCACCCTTATCCTTCACAGCCATGTGACCCATATCAGGTGGGTGACATGATGCTTCTGAAACCCCATTCCCTCCACTGGGAAATGGGGACCATGATTTCTGCCTCACTGGGGCAGGGGAGGCTGGTCCAGGGATGACATGGGGCCGACTGTTACTGCAGAAGGGGCTAACAGGGGCATCCCAAGTGGGGTCACCACCCACACTGTGCCCCTGCCCTCCCACAGCCGAAGCCTGAGGCCCCTCATCCGGGGCTGGAGACCACCTTGCAGGAGAGGCTGGCGCTCTATCAGACAGCAATTGAAAGCGCCAGACAAGCTGGAGACAGCGCCAAGATGCGGCGCTACGATCGGGGGCTTAAAGTAAGTGGGCAGAGGGCAGGGTACAGGGACCCCCCGCCAACCCCGATGCCCTGCACCAAGCTCTTGGCTTCTCCCAAACCAATACTCACGCCTTATCTTAGACACTGGAAAACCTGCTCGCCTCCATCCGTAAGGGCAATGCCATTGACGAAGCGGACATCCCGCCGCCAGTGGCCATAGGAAAAGGCCCGGCGTCCACGCCTACCTACAGCCCTGCACCCACCCAGCCGGCCCCTAGAATCGCGTCAGCCCCAGAGCCCAGGGTCACCCTGGAGGGACCTTCTGCCACCGCCCCAGCCTCATCTCCAGGCTTGGCTAAGCCCCAGATGCCCCCAGGTAGGTGATGGGCAGGGCCGGGCTGATATGGGATCCGAGTGGGCCATCTGGCAGGATGCTGCTCTAGGGGGGTGCCGGCTGTGCACTGATTGTGAGATATTTTCAACACCCTGAGTCCTGGGGTCTTCAAGCCCCTGGAGTTCATGAATACCTCCCAAGCAGGACATGGATACCCAGAGAGTTTTTTTTGTTGTTATTATGATATTATGATAAAATATAGATCACATTTGCCATTAAAAATTATTTTAGTTCTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCCCAGGCTGGAGCGCAGTGGCACGATCTCAGCTCATTACAACCTCCACCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATATGCCACACTTGGCTAATTTTGTATTTTGAGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCACTTCGGCCTCCCAATTTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCTTTTTTTAATTCTTTGAGACAGGGTCTTACTCCATCACCCAGGCTGGAGTGCAGTGATGTGATCATAGCTCAGTGTAGCCTCAACCTCCTGGGCTCAAGGGATCTTCCCTCACCTTCACCAGTAGCTGGGACTACAGGCATGCACCACACACTTGGCTAATTTTTTTTTTTTTTTTGAGTCGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTTTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGCATTACAGGTGCATGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACGCCAGGCCTCATCGCCTTTTTTTTTTTTTTGAAACAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTAGCATGATCCTAGTTCACTGCAACCTGCCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATATGCCACCGTGCCCCATGCCCAGCTAATTTTTGTACTTTTTGTAGAGGTGCCATGTTGCCCAAGCTAGAACATATCTTCTAAGAGGTTTTTCTTCCTAACCTCCCCCTAGGAAAGGAAGGCCTCCCTCCCTCTCTTTGTGATATGAACACGGGGCTTTGCCCCAGGTCCAAACACTTCCCTGGCAGGAAGCAAAGAGACAACTCAAAATACTGGCATGGGTTTGAGAAAGCAAACACTGGGTCACTAAATCCTTCTGCAACCAAGCTAGTTTCCAAGCCATTGTTTTTGACAAAGTTCAAGGATTACTGGAATTGTCACCTGAAATTGTCAACTGAAACGACCAAAAATTTTTCACAATGGAAGTTTGGCATAAAACTTGTCAGGAGTTCAAAGAATACAAAGACATCACAGTAACAAAATTCTGTGTCTTCCAATCTATTTGTTAATGTGAAGTAGGTTTCTCAATACTTTAATTTTTTTGAGACGGAGTCTCGCTCTTGTTTCCAGGCTGGAGTGCGATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAA
|
ACAGGAACCTAAGCTTAAATTTCCCCTAGGAGCAACAGTCTTATAGTCATTAATTTAGTCTTCAAAGCAGCTTTATAGAATGTAACATAACTAATAACAAGATATTGGCAATATGCTATTCTAAGAGCTTCATTGACCTTCTCTGCTCCAACCTACCTATGAAGGAGGAACTGTTGTCATCCCCGTGTCACAGAGGGAGAAACTGAGGCTCAGAGAGGTGACATCACTTGCCGAAGTTCTCACAGAGAGAAAGTTGCAGAGCTGGGGTTTTTTTTGTTGTTGTTGTGTGTGTGTGTTTTTTTTTTTTTTTTTGGAGACAAACCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCAATCTCAGCTCACTGCGACCTCTGCCTCCTGGGCTTAAGTGATTCTCCTGCCTCAGCCTCTTTAGCAGCGGGGATTACACGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTTGGCTCACCGCAAGCTCCGCCTCCTAGGTTCACGCCATTCCCCTGCCTCAGGCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCAGCATGCCTGGCTAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACTGCGCCCAGCCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACTTCAAGTGATCCTTCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACTGTGCCCGGTCTGCAGAGCTGGGTTTTGAATTCAGGTAGCCAGGCCCCAGACCTGAGGCTGAATAAGGAAGAGATGAAATGGGGAAGTCAGCGAGAAGTGGGATCACCTAGCGTGTCCAGGATGGGAAATGGGGGCTCTTGGTGTACGACCCTGGTCCACCTGGGGCATCCCCCTACCGCCAGGTCCCTTGCCGATGGAGGCCATTGAGAAGATGGCCAGCCTGTGCATGAGAGACCCGGATGAGGATGAGGAGGAGGGGACGGATGAGGACGACTTGGAGGCTGATGATGACCTGCTGGTGAGCACTGAGGGCGGGGTGGGGGCTCTGATCCGGTTGCCCCCATCCAGCAGGCCCTTATATCCTGCCCTGGCTGTGTGTCCCTGCAGGCGGAGCTAAATGAGGTCCTTGGAGAGGAGCAGAAGGCTTCAGAGACCCCACCTCCTGTGGCCCAGGTACAGTTTGGATGACTCCACTCCCTTGAACCACAACCCAACGGACAGCCCGGGGTTCAAGACCTAGCCTTTTTTATGAGATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTACAACCTCTGCCTCCCAGGTTCAAGGGATCCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTACAGGTGTGTGCCACCACGCCTGGCTAATTTTTGTATTTTTTGGTAGAGATGGTGTTTCTCTGTGTTGGCCAGGCTGGTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCACCCTTATCCTTCACAGCCATGTGACCCATATCAGGTGGGTGACATGATGCTTCTGAAACCCCATTCCCTCCACTGGGAAATGGGGACCATGATTTCTGCCTCACTGGGGCAGGGGAGGCTGGTCCAGGGATGACATGGGGCCGACTGTTACTGCAGAAGGGGCTAACAGGGGCATCCCAAGTGGGGTCACCACCCACACTGTGCCCCTGCCCTCCCACAGCCGAAGCCTGAGGCCCCTCATCCGGGGCTGGAGACCACCTTGCAGGAGAGGCTGGCGCTCTATCAGACAGCAATTGAAAGCGCCAGACAAGCTGGAGACAGCGCCAAGATGCGGCGCTACGATCGGGGGCTTTAAGTGGGCAGAGGGCAGGGTACAGGGACCCCCCGCCAACCCCGATGCCCTGCACCAAGCTCTTGGCTTCTCCCAAACCAATACTCACGCCTTATCTTAGACACTGGAAAACCTGCTCGCCTCCATCCGTAAGGGCAATGCCATTGACGAAGCGGACATCCCGCCGCCAGTGGCCATAGGAAAAGGCCCGGCGTCCACGCCTACCTACAGCCCTGCACCCACCCAGCCGGCCCCTAGAATCGCGTCAGCCCCAGAGCCCAGGGTCACCCTGGAGGGACCTTCTGCCACCGCCCCAGCCTCATCTCCAGGCTTGGCTAAGCCCCAGATGCCCCCAGGTAGGTGATGGGCAGGGCCGGGCTGATATGGGATCCGAGTGGGCCATCTGGCAGGATGCTGCTCTAGGGGGGTGCCGGCTGTGCACTGATTGTGAGATATTTTCAACACCCTGAGTCCTGGGGTCTTCAAGCCCCTGGAGTTCATGAATACCTCCCAAGCAGGACATGGATACCCAGAGAGTTTTTTTTGTTGTTATTATGATATTATGATAAAATATAGATCACATTTGCCATTAAAAATTATTTTAGTTCTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCCCAGGCTGGAGCGCAGTGGCACGATCTCAGCTCATTACAACCTCCACCTCCCAAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATATGCCACACTTGGCTAATTTTGTATTTTGAGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCACTTCGGCCTCCCAATTTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCTTTTTTTAATTCTTTGAGACAGGGTCTTACTCCATCACCCAGGCTGGAGTGCAGTGATGTGATCATAGCTCAGTGTAGCCTCAACCTCCTGGGCTCAAGGGATCTTCCCTCACCTTCACCAGTAGCTGGGACTACAGGCATGCACCACACACTTGGCTAATTTTTTTTTTTTTTTTGAGTCGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTTTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGCATTACAGGTGCATGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACGCCAGGCCTCATCGCCTTTTTTTTTTTTTTGAAACAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTAGCATGATCCTAGTTCACTGCAACCTGCCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATATGCCACCGTGCCCCATGCCCAGCTAATTTTTGTACTTTTTGTAGAGGTGCCATGTTGCCCAAGCTAGAACATATCTTCTAAGAGGTTTTTCTTCCTAACCTCCCCCTAGGAAAGGAAGGCCTCCCTCCCTCTCTTTGTGATATGAACACGGGGCTTTGCCCCAGGTCCAAACACTTCCCTGGCAGGAAGCAAAGAGACAACTCAAAATACTGGCATGGGTTTGAGAAAGCAAACACTGGGTCACTAAATCCTTCTGCAACCAAGCTAGTTTCCAAGCCATTGTTTTTGACAAAGTTCAAGGATTACTGGAATTGTCACCTGAAATTGTCAACTGAAACGACCAAAAATTTTTCACAATGGAAGTTTGGCATAAAACTTGTCAGGAGTTCAAAGAATACAAAGACATCACAGTAACAAAATTCTGTGTCTTCCAATCTATTTGTTAATGTGAAGTAGGTTTCTCAATACTTTAATTTTTTTGAGACGGAGTCTCGCTCTTGTTTCCAGGCTGGAGTGCGATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAANNNN
|
pathogenic
| 300,327 |
Evaluate if the mutation on chromosome 19 at position 13918953 in CC2D1A (coiled-coil and C2 domain containing 1A) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Intellectual_disability,_autosomal_recessive_3']
|
AACATTGAGGTACTTCCCCAGAAAACATACTGAGCATATTATTTGAAACTGTAACTAACACACTGTTTAAAAAGCACTGAATACTGGGTTTCCTAACTTTGCAAACACACTGCATAAATATATTTTGGTTGTATAAATATACAATAGGGTAGGCAAAAAAGGCTTTCAAACACACAGCTATATCATGTTAGCATAAATTTCTGTGGGGGACGTGGATGGAAATAAGAGAAGACTCAAAATTCCCAACTGCTTAAAGTGAGTCCCAGGATATATTTAAAAAGTGAGTTGGGCATGGTGGCACATGCCTGTAATCTCTGCACTTTGGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACTAGCCTGGACAACATAGTAAGACCCCATCTCTACAAAAAAAAATAAAAAACCAGCCGGGCATGCAGGTGCATGCTCTGTAGCCCCAGCTACTCAGGAAGCTGAGATGGGAGGATCGCCTAAGCCCGGTGTCTGAGGCTATAGTGAGCAGCAGAGCAAGACTCTATCTCTTTAAAAAAAAATACATTAAATATGGCCAGGCACGGTAACTCACACCTGTAATCCTACTTTGGGAGGCCAAGGTGAGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAGAATACAAAAATTAGCCAGAAATTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGTCTGGGCAACAGAGCAAGACCCAGTCTCAAAAAATACATTAAAGCCAGGCGCGGTGGTTCACACCTATAATCCCAGCACTTTGGGAGTCCAAGGTGGGCGGATCACCTGAGGTCAGGACTTTGAGACCAGCCTGGCCAACACGGCGAAACCCTGTCTCTACTAAAAACATAAAAATTAGCCGGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATTGCGCCACTGTACCCCAGCATGGGCAACAGAGTGAGGCTCTGTCTGAAAAAGAAAAAAAAAATTAAATAAATAAATAACAAATGGTTTACACGGTGAACTTGGCCCAGGCCCTGGAGGCTTCCTGTATGTTGTTCTCCCTTCCAGGTCCCTGCAGCCCTGGCCCTCTGGCCCAGTTGCAGAGCCGCCAGCGCGACTACAAGCTGGCTGCCCTCCACGCCAAGCAGCAGGGAGATACCACTGCTGCCGCTAGACACTTCCGCGTGGCTAAGGTGCGTCCAGCCTGACGGACAGGACTGGAGGGATGGGGCAGGATGCTTCCCACGTGGCCTGGTGGCAAAGCACCCAAATTTGCATCCTAGCTTGGTCACTCCCTAGCAATAGTTTGCTGTAAGTCTTGGAGCCTCAGTTTACCCCCTCTGTGAAATGGGCACGTGTGTTGGAAGAGGATTAAGCAAGATGGCACAAATGGAAGGGAGGGAGCTAGAAGTCCTCGGTGGCATGGAAGGGCCCGGAGGCTCCCCACAGGGTCCAAGCCCCCAACTGCACCTCTTCTTCTAATCTCCTCTTCCTTCTCCCAGAGCTTTGATGCTGTCTTGGAGGCCCTGAGCCGGGGTGAGCCCGTGGACCTCTCCTGCCTGCCCCCTCCACCCGGTGAGAACCCTGCCATGCCCACTCTCTGGGATGGTTTCAGGCATACACTAAGTTCTCCTTGATGCTGCCACCCCTGTTGGTCAGGCCCAGAGACCACCCTCAGGCCAGACCAGCTTGTCGGGGGTGCAGCTAACAAGCCCCTCATTGGCCTGGACCTCTCTGTCCCCAGACCAGCTGCCCCCAGACCCACCGTCACCACCGTCGCAGCCTCCGACCCCCGCTACGGCGCCCTCCACAACAGGTAGGTTCTGGGACCCTCTGGGGTTGGGGGCAGGCTGGAGCCAGACTGTCTACCCATCCGTTGACTCTTAACCTTGTCCCCCTGTCCGGCCCAGAGGTGCCCCCACCCCCGAGGACCCTGCTGGAGGCGCTGGAGCAGCGGATGGAGCGGTACCAGGTGGCCGCAGCCCAGGCCAAGAGCAAGGGGGACCAGCGGAAAGCTCGAATGCACGAGCGCATCGTCAAGGTGCCCTGGGGGTTCCGGGGGAGGTGGGGCGAGTGGGCAGCCCGGGAGCCCTCCCACAGGCAGCCCTAACACCTGTGGCCCTCGCAGCAATACCAAGATGCCATCCGAGCCCACAAGGCTGGCCGAGCCGTGGATGTCGCTGAATTGCCCGTGCCCCCAGGTAGGCCTTGCCCCTGTAGGCCTCGCCCCAGTAGGCCCCGCCCCCGTAGGCCCCGCCCCCAGAGGCCCCGCCGCTGGCAGGCTGTGCCCCAAGCTCCTGTTCCTCCAGCCTCTGAGCCTTGGCAGATGCTATTACTCCCCATAGCACAGGCTCAGGGAGCTGAATACAACATATTCAAGGGTTTTGTAAACTTGTTAATCAGTGGGAGCTTGACATTGGACATGATGTGTCTGCACTGTAGAAATTGGCAAACCGGCTGGACGAGGTGGTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAAATCACTTGAGGCCAGGAGTTCAAGACCAGCTTGGGCAACGTGGCAAGACCCCGTGGCTACAAGAAATTTAAAAATTAGCCTGGTGTGGTGGTGCACACCTGCAGTCCCACTCTAGATCATGCCACTGTACTCCAGCCTGGGCAACAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATTAATTAATTAAAAAAAGTAAAGGCCCAAGACTCTATAGGTGGGAGAGGAATCTGCATCTCCACCATAATGGTGTGAGTTGGTCTCCATCCTGACACACAATAACCAGGCCTCGACTGGCCACCCAGGCTTCCCCCCAATCCAGGGCCTGGAGGCCACCAAGCCCACCCAGCAGAGTCTGGTGGGTGTCCTGGAGACTGCCATGAAGCTGGCCAACCAGGATGAAGGCCCAGAGGATGAAGAGGATGAGGTGCCTAAGAAGGTTTGAGGGTTGGGGCCGGGCGCAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAATCCAAGATGGGAGGATCGCTTGAGGCCAGGAGTTTGAGACCATCCTGGGCCACACAGTGAGACCCCCGTCTCTACAAAAAAATTTTTTAAAATTAGCCAGGCATGGTGGGACTCACCTGTAGTCCCTGCTACTTGGGAGACTGAGGTGGGAGGATCACCTGAACTAAGGAGTTCAAGGCTGCAGTGAGCCATGGTCATGCCACTGTACGCCAGTCTGGGTGACAGAGCAAGACCTCATCTCCAAGACAATTAAAAAAAAAAAAAAGTGTTTGGTGAGAATTGCTTGAACCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCTACTGCACTCCAGCCTGGACGATACAGTGATACTCTGTCTCAAAAAAGAAAAAAAAAAAAAAAAAGGTGTTTGGGGCCAGGGGCTTTGAGTGAGGCAGGGGAGTAGCAAAGTCCTGGGAGCCCACTAAATGACCACTGTTGTCACCATCAGACCCTGATCCTTGGGGACTGGACTCATCACAGGCGCTACGAAATCTCTAACATCCTCTCTCTTCCTCTACAGCAGAACAGCCCTGTGGCCCCCACAGCCCAGCCCAAAGCCCCACCCTCAAGAACTCCCCAGTCGGGATCAGCCCCAACAGCCAAAGCGCCCCCCAAAGCCACATCCACCAGAGGTAAGTTCCCCCTCCCCGCCCCAGCTGCCTGTTGCCTGGCTGTGGCCTGGGCAGCACCCATAGCAGCTCCTATGCCCACAGCCCAGCAGCAGCTGGCCTTCCTAGAGGGCCGCAAGAAGCAGCTCCTGCAGGCCGCACTGCGAGCCAAGCAGAAAAACGACGTGGAGGGTGCCAAGATGCACCTGCGCCAAGCCAAGGGACTGGAGCCTATGCTGGAGGCCTCGCGCAATGGGCTGCCTGTGGACATCACCAAGGTGAACCTTCTGGGCTTGTGGGAACTGCCCAGGCACCCACTTGTCAGGCTCCTGCCCCTTAGCAGCCACGTGAACTAG
|
AACATTGAGGTACTTCCCCAGAAAACATACTGAGCATATTATTTGAAACTGTAACTAACACACTGTTTAAAAAGCACTGAATACTGGGTTTCCTAACTTTGCAAACACACTGCATAAATATATTTTGGTTGTATAAATATACAATAGGGTAGGCAAAAAAGGCTTTCAAACACACAGCTATATCATGTTAGCATAAATTTCTGTGGGGGACGTGGATGGAAATAAGAGAAGACTCAAAATTCCCAACTGCTTAAAGTGAGTCCCAGGATATATTTAAAAAGTGAGTTGGGCATGGTGGCACATGCCTGTAATCTCTGCACTTTGGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACTAGCCTGGACAACATAGTAAGACCCCATCTCTACAAAAAAAAATAAAAAACCAGCCGGGCATGCAGGTGCATGCTCTGTAGCCCCAGCTACTCAGGAAGCTGAGATGGGAGGATCGCCTAAGCCCGGTGTCTGAGGCTATAGTGAGCAGCAGAGCAAGACTCTATCTCTTTAAAAAAAAATACATTAAATATGGCCAGGCACGGTAACTCACACCTGTAATCCTACTTTGGGAGGCCAAGGTGAGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAGAATACAAAAATTAGCCAGAAATTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGTCTGGGCAACAGAGCAAGACCCAGTCTCAAAAAATACATTAAAGCCAGGCGCGGTGGTTCACACCTATAATCCCAGCACTTTGGGAGTCCAAGGTGGGCGGATCACCTGAGGTCAGGACTTTGAGACCAGCCTGGCCAACACGGCGAAACCCTGTCTCTACTAAAAACATAAAAATTAGCCGGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAAGTTGCAGTGAGCTGAGATTGCGCCACTGTACCCCAGCATGGGCAACAGAGTGAGGCTCTGTCTGAAAAAGAAAAAAAAAATTAAATAAATAAATAACAAATGGTTTACACGGTGAACTTGGCCCAGGCCCTGGAGGCTTCCTGTATGTTGTTCTCCCTTCCAGGTCCCTGCAGCCCTGGCCCTCTGGCCCAGTTGCAGAGCCGCCAGCGCGACTACAAGCTGGCTGCCCTCCACGCCAAGCAGCAGGGAGATACCACTGCTGCCGCTAGACACTTCCGCGTGGCTAAGGTGCGTCCAGCCTGACGGACAGGACTGGAGGGATGGGGCAGGATGCTTCCCACGTGGCCTGGTGGCAAAGCACCCAAATTTGCATCCTAGCTTGGTCACTCCCTAGCAATAGTTTGCTGTAAGTCTTGGAGCCTCAGTTTACCCCCTCTGTGAAATGGGCACGTGTGTTGGAAGAGGATTAAGCAAGATGGCACAAATGGAAGGGAGGGAGCTAGAAGTCCTCGGTGGCATGGAAGGGCCCGGAGGCTCCCCACAGGGTCCAAGCCCCCAACTGCACCTCTTCTTCTAATCTCCTCTTCCTTCTCCCAGAGCTTTGATGCTGTCTTGGAGGCCCTGAGCCGGGGTGAGCCCGTGGACCTCTCCTGCCTGCCCCCTCCACCCGGTGAGAACCCTGCCATGCCCACTCTCTGGGATGGTTTCAGGCATACACTAAGTTCTCCTTGATGCTGCCACCCCTGTTGGTCAGGCCCAGAGACCACCCTCAGGCCAGACCAGCTTGTCGGGGGTGCAGCTAACAAGCCCCTCATTGGCCTGGACCTCTCTGTCCCCAGACCAGCTGCCCCCAGACCCACCGTCACCACCGTCGCAGCCTCCGACCCCCGCTACGGCGCCCTCCACAACAGGTAGGTTCTGGGACCCTCTGGGGTTGGGGGCAGGCTGGAGCCAGACTGTCTACCCATCCGTTGACTCTTAACCTTGTCCCCCTGTCCGGCCCAGAGGTGCCCCCACCCCCGAGGACCCTGCTGGAGGCGCTGGAGCAAGCGGATGGAGCGGTACCAGGTGGCCGCAGCCCAGGCCAAGAGCAAGGGGGACCAGCGGAAAGCTCGAATGCACGAGCGCATCGTCAAGGTGCCCTGGGGGTTCCGGGGGAGGTGGGGCGAGTGGGCAGCCCGGGAGCCCTCCCACAGGCAGCCCTAACACCTGTGGCCCTCGCAGCAATACCAAGATGCCATCCGAGCCCACAAGGCTGGCCGAGCCGTGGATGTCGCTGAATTGCCCGTGCCCCCAGGTAGGCCTTGCCCCTGTAGGCCTCGCCCCAGTAGGCCCCGCCCCCGTAGGCCCCGCCCCCAGAGGCCCCGCCGCTGGCAGGCTGTGCCCCAAGCTCCTGTTCCTCCAGCCTCTGAGCCTTGGCAGATGCTATTACTCCCCATAGCACAGGCTCAGGGAGCTGAATACAACATATTCAAGGGTTTTGTAAACTTGTTAATCAGTGGGAGCTTGACATTGGACATGATGTGTCTGCACTGTAGAAATTGGCAAACCGGCTGGACGAGGTGGTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAAATCACTTGAGGCCAGGAGTTCAAGACCAGCTTGGGCAACGTGGCAAGACCCCGTGGCTACAAGAAATTTAAAAATTAGCCTGGTGTGGTGGTGCACACCTGCAGTCCCACTCTAGATCATGCCACTGTACTCCAGCCTGGGCAACAGAGCGAGATCCTGTCTCAAAAAAAAAAAAATTAATTAATTAAAAAAAGTAAAGGCCCAAGACTCTATAGGTGGGAGAGGAATCTGCATCTCCACCATAATGGTGTGAGTTGGTCTCCATCCTGACACACAATAACCAGGCCTCGACTGGCCACCCAGGCTTCCCCCCAATCCAGGGCCTGGAGGCCACCAAGCCCACCCAGCAGAGTCTGGTGGGTGTCCTGGAGACTGCCATGAAGCTGGCCAACCAGGATGAAGGCCCAGAGGATGAAGAGGATGAGGTGCCTAAGAAGGTTTGAGGGTTGGGGCCGGGCGCAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAATCCAAGATGGGAGGATCGCTTGAGGCCAGGAGTTTGAGACCATCCTGGGCCACACAGTGAGACCCCCGTCTCTACAAAAAAATTTTTTAAAATTAGCCAGGCATGGTGGGACTCACCTGTAGTCCCTGCTACTTGGGAGACTGAGGTGGGAGGATCACCTGAACTAAGGAGTTCAAGGCTGCAGTGAGCCATGGTCATGCCACTGTACGCCAGTCTGGGTGACAGAGCAAGACCTCATCTCCAAGACAATTAAAAAAAAAAAAAAGTGTTTGGTGAGAATTGCTTGAACCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCTACTGCACTCCAGCCTGGACGATACAGTGATACTCTGTCTCAAAAAAGAAAAAAAAAAAAAAAAAGGTGTTTGGGGCCAGGGGCTTTGAGTGAGGCAGGGGAGTAGCAAAGTCCTGGGAGCCCACTAAATGACCACTGTTGTCACCATCAGACCCTGATCCTTGGGGACTGGACTCATCACAGGCGCTACGAAATCTCTAACATCCTCTCTCTTCCTCTACAGCAGAACAGCCCTGTGGCCCCCACAGCCCAGCCCAAAGCCCCACCCTCAAGAACTCCCCAGTCGGGATCAGCCCCAACAGCCAAAGCGCCCCCCAAAGCCACATCCACCAGAGGTAAGTTCCCCCTCCCCGCCCCAGCTGCCTGTTGCCTGGCTGTGGCCTGGGCAGCACCCATAGCAGCTCCTATGCCCACAGCCCAGCAGCAGCTGGCCTTCCTAGAGGGCCGCAAGAAGCAGCTCCTGCAGGCCGCACTGCGAGCCAAGCAGAAAAACGACGTGGAGGGTGCCAAGATGCACCTGCGCCAAGCCAAGGGACTGGAGCCTATGCTGGAGGCCTCGCGCAATGGGCTGCCTGTGGACATCACCAAGGTGAACCTTCTGGGCTTGTGGGAACTGCCCAGGCACCCACTTGTCAGGCTCCTGCCCCTTAGCAGCCACGTGAACTA
|
pathogenic
| 300,344 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 13929637, gene CC2D1A (coiled-coil and C2 domain containing 1A): what disease(s) if pathogenic?
|
pathogenic; ['Intellectual_disability,_autosomal_recessive_3']
|
TAACATGGTGAAACCCTGTTTCTACTAAAATACAAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTAAGTAAACCCAGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCACCACTGCACTCCAGCCTGGACAACAGAGCGAGACTCTATCTCAGAAAAAAAAAAAACCAAAAAAAAAAACCAGTCTTGTTCTCCCTTGTCCTGGCCCTGGGCCTCTAGTCACTTCCTGCTTCCCACCAACAGTTTCTCCTTACCCCCACCCAGGTCCTGGATGGTCGCCGGCCCACAGGGGGGCGACTGGAGGTAATGGTCCGGATTCGGGAGCCACTGACAGCCCAGCAGTTGGAGACGACGACAGAGAGGTGGCTGGTCATTGACCCTGTGCCGGCAGCTGTGCCCACAGTGAGACCCCCCACCCCCACCCATCAGCAACCCCAGGGAGGGAAGCTTGGTTCAGGGGCCCAGGACTCACAGGACTGGTTCTCTCCTCTGAAGCAGGTTGCTGGGCCCAAAGGGAAGGCCCCTCCTGTGCCTGCCCCTGCAAGGGAGTCAGGGAACAGGTAGGTATCTGGGCCAGGGCATGCTGGAGAAAACACCCAATTCCCCTCTCAGCCCCACCTGGACAGTTTCCCACCAGGCACAAATTGGACCACGTCCCTCTCCTGCTGCAAAACCTTTCTTGGCACCCCTTTTCCCAGAGGATCCAGTTTAAACTCCTTGGTTTGGTCTTTAAAACCTTTTGTGATCTGACCATTGTCAACATATCCAGGCTTCTCTCTCCCTACTCCCTCCTGTGGTTCATGTCCATGAATAGTTTTCACTGGCCTCTGGACTTCTGTGGGTTCCAGTGCCCTGAACACCCCTACCTAGGGTAGGGGTGTTCCTTGTTCCTCTGCCCACCTCTGATTCCTTCTTTGGATCCCAACTTGGCTGTTACCTCCTCCAGGAAGCCCTCCCTGACCACTAGGCATCATAGTTTCCTGGGTGTGCAGCCATCATCCCCGCTAGGTTTTGGGATCAGTAACACCGGGTGGTTCTCGGCTGTCTCCCACCATACCCCCAGTGCCCAGTGTGTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACAGCAACCTCCGCCTCTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTCTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCATGCTCGGCTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCATTGCAACCTCCAGCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGCACACCACCATGCCCAGCTAATTTTTTTTCTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACTCACCTCCGCCTCCCAAAGTGCAGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCAGTGTGTCTTTTGAATTAACAGGGTTGGGCTGGGGGAATCTCTGCAGTCCCTTATCCTTCCTCCACCCCTTAGATCAGCCCGGCCCCTGCATAGCCTCAGTGTGCTGGCGTTTGACCAAGAGCGTCTGGAGCGGAAGGTGGGTATCCATCCTGCCGGGCTACATGGGGCAGGACTGGGGAGTCTGCAGGCCCAGGCAGGATCCTCACAGGACCCTCTGTATCCTCTAGATCCTGGCCCTCAGGCAGGCGCGGCGGCCGGTGCCCCCAGAAGTGGCCCAGCAGTACCAGGACATCATGCAACGCAGCCAGTGGCAGAGGGCACAGCTGGAGCAGGGGGGTGTGGGCATCCGACGGGGTAGGGGTTTGGAGATGGGCATCTGGTGGGGGAGGAGCTCCAGGATAGGCATGGGGGGGGAGGTGCTCAGGGATGCATATCTGGTGGGGGAGGGGCTCGGGGATGGGCATCTGGAGAGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCATCTGGAGAGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCACCTGGCGGGGGACGGGCTTGGGGATGGGCACAGTCCAGGAGGGTTGTGGGCAGTGAGGCCCCACCCTAAGCCTCCATTCCCCCGCCATCCATTCTCAGAATACGCAGCCCAGCTGGAGCGGCAGCTGCAGTTCTACACGGAGGCTGCCCGGCGCCTGGGCAACGATGGCAGCAGGGTGAGCTGGTCGCGGGCCGGGTGGGCACTGGGCAGCGGGCAGGGTGGGGCCTGCAGGGACTACCTGCTGAATGCCCATCCCCCACAGGATGCTGCAAAGGAGGCGCTCTATAGGCGGAATCTGGTAGAGAGTGAGGTAAGCAGCTTAGGAGATGGGGTGGTTGGGGGATCACTGTGGTCGTAGCCCACCTCCATGACCCCAGTGGCCTCCTCTCCCCCAGCTGCAGCGGCTCCGCAGGTGAGGAGCCCATGGGGCGGGCAGCCCCCAGAAAGCGGGCAGCAGGCCCCGATACCGGGAAGAGCCGACACAGCCACGAACCAGACAAGCAGACAATCAGCGGACAATCGGTTCTGGACTCACCCCTCATCCGGGCCCCCAGCCCCGCCAGAGCCTCCGTGGCTGCGGGTGTTGGGAACCATGCCTGCCAGCCAGTATGTGCCCCTCACCCAGGCCTGGCTGGGCCCTGGAGAGTCCTGTTTGCACAGCCCAGGGGTGTCCGGCCTCTGGCCCGCCCCGGAGCAGGGAGGGTGGCTGGGGCCAAGCCCCGAGGGCCCCTGCAAGCACTTTACTTCCTGTTCCTCCCCAGCCTTAACCCCAAAGCCCTCCTGCACCCCAAAGAAGCCACTGAGGCTGGCCGAGCCACACTGTCTCCCCAGGGGCGTCGACCTGGCCCAGCTGGGTCCCCAGGGCCAGCACATGGAATAAAATAGCCAGGGCCACACTCAGCCCAGCTCTGTCCTGTCTGTTTCTTGCTCAGACCCTCGGTGGCCAGGCTAGGTCTTCCCACCCACCCCCCGGTTCCCCTGGAAGTGGATGGGGAGGCGCCTGTTAGGGAAGCAGTTTTGGGGAGGGACAGTGTGCTTGTGAAAGGTGCTTTTTTTTTTTTTTTTTAGAGACCGGGTTTCCCTCTGTCACCCAGGCTGCAGCGCAGTGGCACAATCAGCTCATTGCAGCCTCCGACTCCTGGGCTCACATGATCCTCCTGCCTCAGCCTCCTAACGGATTACAGAAGGGCACCACCACACACCCAGCTTGAAGGATGCATTTCATTCCCATGCTTGCTGTGGGGGGGGATACATGTGAGGGTCCCTATATCTGTCACCCAGTGTTTTTTCAGTGGGTGGCCTTGGGCGTCCCTGCAATCACACGTGGCTAGGTCGCACAGGGTGCTGTTTGGTGACCCCAGTGTGTGCCTCAAGACCTCAAAATTCAGTCCTGACCCACTTAGCATCCCAGAGCCTCAGTTTCCCCAGCTGGACTGGTTGTGGGGAGGAGTCCGTGGACAGAGCCCCCAAAGGGTGCCTGGTCCGTGCTGAGTGCTGGAAGGGTTTGGCTTTATTGTTGCTGCCTCCATCTGTGTTGGGAGTTTGGGGTAGGGTGTGTCCCGCCAGGCCGGCGTGGTCTGTGAGCCTGGAGTATGCCAGCTGTGTGCCTCTGTGTCTCGGCCAGTGGCAGGCAGAGCAGGCCCAGCCCTGGAGGCCCAGGAGAGCCAGACCAAGGGCCCCTGGTGGGCGTTGTCTCCTCAGTCCA
|
TAACATGGTGAAACCCTGTTTCTACTAAAATACAAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTAAGTAAACCCAGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCACCACTGCACTCCAGCCTGGACAACAGAGCGAGACTCTATCTCAGAAAAAAAAAAAACCAAAAAAAAAAACCAGTCTTGTTCTCCCTTGTCCTGGCCCTGGGCCTCTAGTCACTTCCTGCTTCCCACCAACAGTTTCTCCTTACCCCCACCCAGGTCCTGGATGGTCGCCGGCCCACAGGGGGGCGACTGGAGGTAATGGTCCGGATTCGGGAGCCACTGACAGCCCAGCAGTTGGAGACGACGACAGAGAGGTGGCTGGTCATTGACCCTGTGCCGGCAGCTGTGCCCACAGTGAGACCCCCCACCCCCACCCATCAGCAACCCCAGGGAGGGAAGCTTGGTTCAGGGGCCCAGGACTCACAGGACTGGTTCTCTCCTCTGAAGCAGGTTGCTGGGCCCAAAGGGAAGGCCCCTCCTGTGCCTGCCCCTGCAAGGGAGTCAGGGAACAGGTAGGTATCTGGGCCAGGGCATGCTGGAGAAAACACCCAATTCCCCTCTCAGCCCCACCTGGACAGTTTCCCACCAGGCACAAATTGGACCACGTCCCTCTCCTGCTGCAAAACCTTTCTTGGCACCCCTTTTCCCAGAGGATCCAGTTTAAACTCCTTGGTTTGGTCTTTAAAACCTTTTGTGATCTGACCATTGTCAACATATCCAGGCTTCTCTCTCCCTACTCCCTCCTGTGGTTCATGTCCATGAATAGTTTTCACTGGCCTCTGGACTTCTGTGGGTTCCAGTGCCCTGAACACCCCTACCTAGGGTAGGGGTGTTCCTTGTTCCTCTGCCCACCTCTGATTCCTTCTTTGGATCCCAACTTGGCTGTTACCTCCTCCAGGAAGCCCTCCCTGACCACTAGGCATCATAGTTTCCTGGGTGTGCAGCCATCATCCCCGCTAGGTTTTGGGATCAGTAACACCGGGTGGTTCTCGGCTGTCTCCCACCATACCCCCAGTGCCCAGTGTGTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTAGCTCTGTCGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACAGCAACCTCCGCCTCTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTTCTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCATGCTCGGCTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCATTGCAACCTCCAGCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGCACACCACCATGCCCAGCTAATTTTTTTTCTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACTCACCTCCGCCTCCCAAAGTGCAGGGATTACAGGCGTGAGCCACTGTGCCCAGCCCAGTGTGTCTTTTGAATTAACAGGGTTGGGCTGGGGGAATCTCTGCAGTCCCTTATCCTTCCTCCACCCCTTAGATCAGCCCGGCCCCTGCATAGCCTCAGTGTGCTGGCGTTTGACCAAGAGCGTCTGGAGCGGAAGGTGGGTATCCATCCTGCCGGGCTACATGGGGCAGGACTGGGGAGTCTGCAGGCCCAGGCAGGATCCTCACAGGACCCTCTGTATCCTCTAGATCCTGGCCCTCAGGCAGGCGCGGCGGCCGGTGCCCCCAGAAGTGGCCCAGCAGTACCAGGACATCATGCAACGCAGCCAGTGGCAGAGGGCACAGCTGGAGCAGGGGGTGTGGGCATCCGACGGGGTAGGGGTTTGGAGATGGGCATCTGGTGGGGGAGGAGCTCCAGGATAGGCATGGGGGGGGAGGTGCTCAGGGATGCATATCTGGTGGGGGAGGGGCTCGGGGATGGGCATCTGGAGAGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCATCTGGAGAGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCACCTGGAGGGGGAGGGGCTCGGGGATGGGCACCTGGCGGGGGACGGGCTTGGGGATGGGCACAGTCCAGGAGGGTTGTGGGCAGTGAGGCCCCACCCTAAGCCTCCATTCCCCCGCCATCCATTCTCAGAATACGCAGCCCAGCTGGAGCGGCAGCTGCAGTTCTACACGGAGGCTGCCCGGCGCCTGGGCAACGATGGCAGCAGGGTGAGCTGGTCGCGGGCCGGGTGGGCACTGGGCAGCGGGCAGGGTGGGGCCTGCAGGGACTACCTGCTGAATGCCCATCCCCCACAGGATGCTGCAAAGGAGGCGCTCTATAGGCGGAATCTGGTAGAGAGTGAGGTAAGCAGCTTAGGAGATGGGGTGGTTGGGGGATCACTGTGGTCGTAGCCCACCTCCATGACCCCAGTGGCCTCCTCTCCCCCAGCTGCAGCGGCTCCGCAGGTGAGGAGCCCATGGGGCGGGCAGCCCCCAGAAAGCGGGCAGCAGGCCCCGATACCGGGAAGAGCCGACACAGCCACGAACCAGACAAGCAGACAATCAGCGGACAATCGGTTCTGGACTCACCCCTCATCCGGGCCCCCAGCCCCGCCAGAGCCTCCGTGGCTGCGGGTGTTGGGAACCATGCCTGCCAGCCAGTATGTGCCCCTCACCCAGGCCTGGCTGGGCCCTGGAGAGTCCTGTTTGCACAGCCCAGGGGTGTCCGGCCTCTGGCCCGCCCCGGAGCAGGGAGGGTGGCTGGGGCCAAGCCCCGAGGGCCCCTGCAAGCACTTTACTTCCTGTTCCTCCCCAGCCTTAACCCCAAAGCCCTCCTGCACCCCAAAGAAGCCACTGAGGCTGGCCGAGCCACACTGTCTCCCCAGGGGCGTCGACCTGGCCCAGCTGGGTCCCCAGGGCCAGCACATGGAATAAAATAGCCAGGGCCACACTCAGCCCAGCTCTGTCCTGTCTGTTTCTTGCTCAGACCCTCGGTGGCCAGGCTAGGTCTTCCCACCCACCCCCCGGTTCCCCTGGAAGTGGATGGGGAGGCGCCTGTTAGGGAAGCAGTTTTGGGGAGGGACAGTGTGCTTGTGAAAGGTGCTTTTTTTTTTTTTTTTTAGAGACCGGGTTTCCCTCTGTCACCCAGGCTGCAGCGCAGTGGCACAATCAGCTCATTGCAGCCTCCGACTCCTGGGCTCACATGATCCTCCTGCCTCAGCCTCCTAACGGATTACAGAAGGGCACCACCACACACCCAGCTTGAAGGATGCATTTCATTCCCATGCTTGCTGTGGGGGGGGATACATGTGAGGGTCCCTATATCTGTCACCCAGTGTTTTTTCAGTGGGTGGCCTTGGGCGTCCCTGCAATCACACGTGGCTAGGTCGCACAGGGTGCTGTTTGGTGACCCCAGTGTGTGCCTCAAGACCTCAAAATTCAGTCCTGACCCACTTAGCATCCCAGAGCCTCAGTTTCCCCAGCTGGACTGGTTGTGGGGAGGAGTCCGTGGACAGAGCCCCCAAAGGGTGCCTGGTCCGTGCTGAGTGCTGGAAGGGTTTGGCTTTATTGTTGCTGCCTCCATCTGTGTTGGGAGTTTGGGGTAGGGTGTGTCCCGCCAGGCCGGCGTGGTCTGTGAGCCTGGAGTATGCCAGCTGTGTGCCTCTGTGTCTCGGCCAGTGGCAGGCAGAGCAGGCCCAGCCCTGGAGGCCCAGGAGAGCCAGACCAAGGGCCCCTGGTGGGCGTTGTCTCCTCAGTCCAN
|
pathogenic
| 300,375 |
Determine whether the variant at chromosome 19, position 14752407, in gene ADGRE2 (adhesion G protein-coupled receptor E2) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
AAACACTCTTTCTTCATCAAAATACCGAACACATGAGGAATAGAAAAGAATTTCTTTAACCTGAAAAAGGGTATCTATGAAAAATCCTCAGCTAACATCATACATTAATGAGGACAGAGTCAATGCTTTCTCCCTAAGTACAGGAGCAAGACAAAATTGTCTGCTGTTCTAGTCAACAGTGTCCTGGAGGTTTCAACCAGTGCAATTGGCAAACAAACAAACAAACAAACTAGCTAGAAAAGTACCTGGCACAAAGTAAGCATCTCATAAATCTTAACTATGACAATATCAATTATTTTAGTTATTCAAATCAGGTCTACTTTTTCAAATGAAAAATTGGAGTATCCTAAAAGATTTAGATAAAGTAGGTTAGATTTTTAAAAAATGCTGTCTTGAGCACTTTGATTTCATTCTTACTATTTCAGTGAGACAGATTTAAATGCATTATCCCTAACTATTATTATTATTTTTTAGAGACAAGGTCTTTCTCTCTTGCTCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCACTGCAACTTCGAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGTGCCAGTAGGCCCTGCTAATTTTTTAAATTTTGTAAAGAAGGGGTCTTGCTGTGTTGCCCAGGCTGGTCTCAAGATCCTGGGCTCAAGTGATCCTCCTGTGTCAGCCTCCCAAAGCACAGGGATTCCAGGTGCGAGCCACTGAGCCTGACCCTCCTTAATTATTATAATCTTCTAGCAGAAAGATGCCCTAGGGATTATGACATAGTGTCTTTGTCCTATTCGTGCTTTCCAAAGGCTTGCCCTTTATTTCATTCAGAAAATTTCCGAAAACCCTCTTCTACAATGCCTAGCTTGAAATGTAATTGAAATAAACTCAATAGCTAAGAATAAGGAGCTGCAGTGTAATCCAACCAATAGAGCCTAAAATCCCTACTGATCTAATTAAAAGCAGGTGTCATAAAAATGCTATCTAGGTTCTAGCAATGGCCATGGTTATGCCGGAGAAGATAAGGATTGTGAGAATTTGCACTAACCGGGAAGGTGTTCCATAAAGGTGAGGCCTGGAGGCTGCAGAAATGGCCACTGTCACAGCTGGGACTCCGTAGCCCACAGGGAACATGAGCTTCTTCATGAATCTGTTGATGCTTGAGTAGTTGACCACCGTCAGGTTCCGTGCAGTGAGGAAGAGGTACAGGGCCTCCAGCAGCATCCAGGTCAAGGTGGCCAGGTAGAGATAGTGCAAGGTACCGGCGATGATGGAGCACAGCACCTGGCGGAGAAGTAAAAGACGCCCAGAGCGGCGATCAGATTTGAGTGTGGCCCATGGCTTCTCCTGTACCATGTTGTTGGGGAGAATTCTGAGATATTTGATGGCATTATAGAGAATATTTGCTGTGTAGTTGAGTCAGGCAATGGGAAATTGGTGGTGTTCTCTTCTAATATTCCCCAGGACTCAAGGGCCTATATATATATACGTGTATATATACGTATACACACACACACACACACACATATATATATATATATATATTTTTTTTTTTTTTTTTTTGAGACGGAATTTCACTCTTGTTGCCCAGGCTGGCATGCAATGGTGCGATCTCGGCTTACCACAACCTCCACCTCCTGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTGAGGTGATCCGCCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCGGGCTATTATATTAAGGAATCAAATGCCGCATCATTCCATGAGCCAGCGTGTCCTGCGTCAAGGAAGGGAGCCCTCTGGAACACCGCTGTCAATACCTTGTGTCCGGTTTGATCAATTGCCACGAGGAAGAGGAGGTGGGCCAGGAAGAGGCAGAGCGAGAGCTGCAGATGCAGTGAGGTGCTGGTGTTCTGGATGGCTTTACACAGGAGAAAAGTGAGGGCCGCCAGGAGGAGGCACAGCAGAGAGACGCTCAGCCCCATGTAGGTGATGACAGTCAGCACGGGATCCTCCTCCTGGGACCCGGAAAAGAAGAGTTCACAGTGATGCTTTCCTGCTCTGGGGTAATGACCCCACCACCATTTAAAATTTTTACTTTGGCATAGCACATTCAAGAATGAGGGAGCCAGGTAAATTTGTGAAGATGTCACCAATTTAATTTAATTTGCGAAGGTGTCACCCGAGCCTCATGGGTGGCTAGGAATACAGGCGTAGTCATGTAGGTGACAACGGGTGTGCATTATAGTCATGTATGGCACCATGCCCTGCTAATTTTTTTTTTTGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAGCCTCTGTCTCCTCGGTTCAAGCGATTCTCGTGTCTCAGCCTCCCAAGTAGTTGGGATTACAGGCACGTGCCTCCATGCCAGGCTAATTTTTATACTTTTAGTAGAGACAGGGTCACACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACCACACCCGTCCTAATTTTTTTTTTATTTTTGTAGAGACAGGGTCTTTCTGTGTTGCACAGGCTGGTCTCGAATTCCTGGGCTCAAGTGATCCTCCCGTTTCAGCCTCCCAAAGCACAGAGATTCCAGGTGTGGGCCCGTTAGGTTTTGAAGGGAAAGTGAGAGTTAAAGAAAGACAGAGAGTTGGCAGCTCTACAGCAATGCAGGTTTATGTCCAGCAGGAGACTTGTGGAGGGGGGAGCTAGCTTCGTGCCAGAACCCACTGCCGCTTACAGGCTGGGGTAATTACAGGTCTGGGCGGGAGGGGCTGGGCGGTATGGCTTGCTGCCTGGGAGGATATTGATAAGATGTTCCTGTCATGGAAAACAAAAGGGTGGTTTGGCCCTTTCTCCCGCAGGATATGATGATGATGTCCCTTGGATCTACTCTAAGTGATGAGATAAGAAAGTCAGGTGGGCGAGGTGTGGTGGTTCCTGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACTTGGTGAAACCCCATCTCTAGTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCCCTTGAACCCAGAAGGTCAAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCCTGTCTAAAAAAAAAAAAAAGGCAGAGTTTACCCTGGGTGGGCCAGACCTAATCAGATGAGTCTTTATAAGCTCTGGGCTCTTCCTGGAGAATCAGATTCAAAACTTGTGACGGTTAATACTGGGTGTCAACTTGATTGGATTGAAGGATACAAAGTATTGATCCTGGGTGTGTCTATCAGGGTGTTGCCAAAGGAAATTAACATTTGAGTCAGTGGACTGGGAAAGGCAGATCCACTCTTAATCTGGGTGGGCACTGTCTAATCAGCTGCCAGCGTGGCTAGAATATAAGCAGGCAGAAAAATGTGAAAAGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCTGTGCTGGATGCTTCCTGCCCTTGAACATCAGACTCCAAGTTCTTCAGTTCTGGGACTCGGACTGGCTCTCCTTGCTCCTCAGCCTGCAGACGGCCTATCGTGGGACCTTGTGATCATGTGAGTTAATACCTAATAAACTCCCCTTTATATATATCTATATCTATCTATATATATAGATCTCTCTCTATATATCTCTATATATGTATATATTTGAGTCAGTGGGTTGGGAAAGGCAGATCCACTCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCGTGGCTAGAATATAAGCAGGCAGAAATTATCTATCTATCTAT
|
AAACACTCTTTCTTCATCAAAATACCGAACACATGAGGAATAGAAAAGAATTTCTTTAACCTGAAAAAGGGTATCTATGAAAAATCCTCAGCTAACATCATACATTAATGAGGACAGAGTCAATGCTTTCTCCCTAAGTACAGGAGCAAGACAAAATTGTCTGCTGTTCTAGTCAACAGTGTCCTGGAGGTTTCAACCAGTGCAATTGGCAAACAAACAAACAAACAAACTAGCTAGAAAAGTACCTGGCACAAAGTAAGCATCTCATAAATCTTAACTATGACAATATCAATTATTTTAGTTATTCAAATCAGGTCTACTTTTTCAAATGAAAAATTGGAGTATCCTAAAAGATTTAGATAAAGTAGGTTAGATTTTTAAAAAATGCTGTCTTGAGCACTTTGATTTCATTCTTACTATTTCAGTGAGACAGATTTAAATGCATTATCCCTAACTATTATTATTATTTTTTAGAGACAAGGTCTTTCTCTCTTGCTCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCACTGCAACTTCGAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGTGCCAGTAGGCCCTGCTAATTTTTTAAATTTTGTAAAGAAGGGGTCTTGCTGTGTTGCCCAGGCTGGTCTCAAGATCCTGGGCTCAAGTGATCCTCCTGTGTCAGCCTCCCAAAGCACAGGGATTCCAGGTGCGAGCCACTGAGCCTGACCCTCCTTAATTATTATAATCTTCTAGCAGAAAGATGCCCTAGGGATTATGACATAGTGTCTTTGTCCTATTCGTGCTTTCCAAAGGCTTGCCCTTTATTTCATTCAGAAAATTTCCGAAAACCCTCTTCTACAATGCCTAGCTTGAAATGTAATTGAAATAAACTCAATAGCTAAGAATAAGGAGCTGCAGTGTAATCCAACCAATAGAGCCTAAAATCCCTACTGATCTAATTAAAAGCAGGTGTCATAAAAATGCTATCTAGGTTCTAGCAATGGCCATGGTTATGCCGGAGAAGATAAGGATTGTGAGAATTTGCACTAACCGGGAAGGTGTTCCATAAAGGTGAGGCCTGGAGGCTGCAGAAATGGCCACTGTCACAGCTGGGACTCCGTAGCCCACAGGGAACATGAGCTTCTTCATGAATCTGTTGATGCTTGAGTAGTTGACCACCGTCAGGTTCCGTGCAGTGAGGAAGAGGTACAGGGCCTCCAGCAGCATCCAGGTCAAGGTGGCCAGGTAGAGATAGTGCAAGGTACCGGCGATGATGGAGCACAGCACCTGGCGGAGAAGTAAAAGACGCCCAGAGCGGCGATCAGATTTGAGTGTGGCCCATGGCTTCTCCTGTACCATGTTGTTGGGGAGAATTCTGAGATATTTGATGGCATTATAGAGAATATTTGCTGTGTAGTTGAGTCAGGCAATGGGAAATTGGTGGTGTTCTCTTCTAATATTCCCCAGGACTCAAGGGCCTATATATATATACGTGTATATATACGTATACACACACACACACACACACATATATATATATATATATATTTTTTTTTTTTTTTTTTTGAGACGGAATTTCACTCTTGTTGCCCAGGCTGGCATGCAATGGTGCGATCTCGGCTTACCACAACCTCCACCTCCTGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTGAGGTGATCCGCCCACCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCGGGCTATTATATTAAGGAATCAAATGCCGCATCATTCCATGAGCCAGCGTGTCCTGCGTCAAGGAAGGGAGCCCTCTGGAACACCGCTGTCAATACCTTGTGTCCGGTTTGATCAATTGCCACGAGGAAGAGGAGGTGGGCCAGGAAGAGGCAGAGCGAGAGCTGCAGATGCAGTGATGGCTTTACACAGGAGAAAAGTGAGGGCCGCCAGGAGGAGGCACAGCAGAGAGACGCTCAGCCCCATGTAGGTGATGACAGTCAGCACGGGATCCTCCTCCTGGGACCCGGAAAAGAAGAGTTCACAGTGATGCTTTCCTGCTCTGGGGTAATGACCCCACCACCATTTAAAATTTTTACTTTGGCATAGCACATTCAAGAATGAGGGAGCCAGGTAAATTTGTGAAGATGTCACCAATTTAATTTAATTTGCGAAGGTGTCACCCGAGCCTCATGGGTGGCTAGGAATACAGGCGTAGTCATGTAGGTGACAACGGGTGTGCATTATAGTCATGTATGGCACCATGCCCTGCTAATTTTTTTTTTTGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAGCCTCTGTCTCCTCGGTTCAAGCGATTCTCGTGTCTCAGCCTCCCAAGTAGTTGGGATTACAGGCACGTGCCTCCATGCCAGGCTAATTTTTATACTTTTAGTAGAGACAGGGTCACACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACCACACCCGTCCTAATTTTTTTTTTATTTTTGTAGAGACAGGGTCTTTCTGTGTTGCACAGGCTGGTCTCGAATTCCTGGGCTCAAGTGATCCTCCCGTTTCAGCCTCCCAAAGCACAGAGATTCCAGGTGTGGGCCCGTTAGGTTTTGAAGGGAAAGTGAGAGTTAAAGAAAGACAGAGAGTTGGCAGCTCTACAGCAATGCAGGTTTATGTCCAGCAGGAGACTTGTGGAGGGGGGAGCTAGCTTCGTGCCAGAACCCACTGCCGCTTACAGGCTGGGGTAATTACAGGTCTGGGCGGGAGGGGCTGGGCGGTATGGCTTGCTGCCTGGGAGGATATTGATAAGATGTTCCTGTCATGGAAAACAAAAGGGTGGTTTGGCCCTTTCTCCCGCAGGATATGATGATGATGTCCCTTGGATCTACTCTAAGTGATGAGATAAGAAAGTCAGGTGGGCGAGGTGTGGTGGTTCCTGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACTTGGTGAAACCCCATCTCTAGTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCCCTTGAACCCAGAAGGTCAAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCCTGTCTAAAAAAAAAAAAAAGGCAGAGTTTACCCTGGGTGGGCCAGACCTAATCAGATGAGTCTTTATAAGCTCTGGGCTCTTCCTGGAGAATCAGATTCAAAACTTGTGACGGTTAATACTGGGTGTCAACTTGATTGGATTGAAGGATACAAAGTATTGATCCTGGGTGTGTCTATCAGGGTGTTGCCAAAGGAAATTAACATTTGAGTCAGTGGACTGGGAAAGGCAGATCCACTCTTAATCTGGGTGGGCACTGTCTAATCAGCTGCCAGCGTGGCTAGAATATAAGCAGGCAGAAAAATGTGAAAAGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCTGTGCTGGATGCTTCCTGCCCTTGAACATCAGACTCCAAGTTCTTCAGTTCTGGGACTCGGACTGGCTCTCCTTGCTCCTCAGCCTGCAGACGGCCTATCGTGGGACCTTGTGATCATGTGAGTTAATACCTAATAAACTCCCCTTTATATATATCTATATCTATCTATATATATAGATCTCTCTCTATATATCTCTATATATGTATATATTTGAGTCAGTGGGTTGGGAAAGGCAGATCCACTCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCGTGGCTAGAATATAAGCAGGCAGAAATTATCTATCTATCTATNNNNNNNNNNNNNNNNN
|
benign
| 300,421 |
Variant on chromosome 19, at position 15160935, affecting NOTCH3 (notch receptor 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Lateral_meningocele_syndrome']
|
AGTAGACTTTTGTGTCATTTGCAACCAGGAGCACTCCAACTGACAGAATCAACGAACATTAAATCCTATCCTCCTTTCCTGAAGACACCAGTGTAAACAGAACCTTGTCTTGGAGCACGACTGGTTGCGAGTAACAGAAACCCACCGAAGCTGGCACAAGTAAAGAAGTATTTATTACATGGGTCCAAGGTTATCTCCAAAACCCATAGGAGCATGAAGTAAAAGTGAAATTCATGCAGAACCATGATCAGATACTTAGAAAGCAATTAATAAATACCTGTTGATCTCAATGGAATGAACACTCAATTAACTGGAATTGATAACTGCACTGGGAGCCGAGATAACCCCCCCAGCCCTCAAGGAGCCATTTGAGCTCTCATTTCTGATTCTCCCTGAATATTAGCTTCATTCTTCTGCCCTGTTTGCTTGTCTCTTTGCCCACCACCTCGAATTGGCCACTGATATTTCTAAATCTGATTGTGACCTTAAGAGCTCCACCAACTGACAACTTTCTTAGCCTCTCCATTAAAGAAAGTTCTCGAGCAAAAGAATCTGATTGGCTCAGCTTAAGTCAGGTGACAACCACTAATCCAATCGGTAGTCATCTGCCAAAAGAGGAAGCATAAGTAGACTGGCAAGTCAAATGTATTTACCCCAAGATGGGAGCTCAAGTTAGCCCTGGGTGGGGGAGATAGAAGTCCCACTGCCACCACTCCCCACCTTACCTAGACACAGACCAACAACACTGAGTGTTAACTATTCCTTTATTAGGTGGTGAGGGGAGTGGGGGGCTGTACAATGCAGGGCTTGGGAATTCAGCTACACAGGGATTTTGACCAGAAGCCATATTACAAAAATAGCCTAAAAATACCTCTATTCTGCCATGAGGCTGGGCCAGAGGATTACCAGGAAGAGAAAGTACCACTCAGGCAGCTCCTCTTCTTGTAGTCCCACATTTACAGGGACACAAAGGAATGCATACATCTGCCCTGGCTCCCATTTCCCACCAGCAGCCCCCTAGTTCCCAAAGGGAGATGGCCAAGGGTGGGGCTGGGGCAGAGGGAGTTGGCAGTGGGCCCTTCCCCAGCAAGGCTATGGAACATGTCCCATCTGGAATGCAGTGAAGTGAGGGAGGTGGGGTGGGGAGGAGGCTCCCAACACTCCCCCGACCCCTGGCCCCAGTGGGTGCGCCCAAGGGTGCCTACTTGGTACATACCTGGGTCGTGTACTCGGTACACGGGATCCCAGTCATGCCTGTGTACTAGGTACACAGAATCCAGCTTGGCCGAATGGGCCCACAGACTCAGCCCCACGGGGGCACTGGGGGGTTCACAGGGGGAGGGAGCATCTCCATATATATATTTTGTAAAAAATAATAATAATAAGTTTGTTTAAATGAATTTGTTTCTATACAAAATGTAAAAAAAAAAAGAAAAATAAAAATAATAATAATTCATTCATGTCAGAGTGTAAGGAAATGAGAGGCCAGAAGGAGAGAGAAAGGAATGAGGGAAGAGAGAAGTGGGGAAGAAGGAGGTCCCAGACTCTTCACAAGACTGAGAGGGTGGGTGGTAGCCCCCACCCATTATAAATAAAGGAAGACTGAAGCCCTGGGCTGATGACCTATCTCGGTCACGCTGCAAGGCAAGGATGCAGGAGGGTTGGTGGAAAGAGAAGAGGATGAAAAAGACTAAAAGGAAGGAAGAGACAGAGAAAGAAAGGAGGCAGGACGGGGGTCTCTTTAGGCCCCCAAGATCTAAGAACTGACGAGCGTCTCAGGCCAACACTTGCCTCTTGGGGGTAACTTCCGGCTGGGGCCCCAGCTGGGTCTGGGCCTGAGCAAGGGAGCTGGGAACAGACAAGGGAAGTGGCTGGGCAGGCAGTGCCCCAGTGGTGGTGGCCATGGCCCCAGTGGCAGTGGCTGGGCTAGGCGTGGATTCGGACCAGTCTGAGAGGGAGGGAGGTGAGGGGCTGGCCCAGTGCTCAGGGGATTCGGGGGATGGGGTCAGGTAAGGGTGCTCACTGGGAACCCGCAGGAAGCGGGCCTTTGGGGGGCTGCTGTGTGCCCCAGCCGCCGGGTACTCCTCGCCATGTCCTGGGACTGCCAGGTAAGGCGGGGGCCGCTCCTGCGGGGAGACGGGGGTCCCTGGGTTGAGCAGCTGGGGTCCCGGCGCCAGTGGCAGCAGGAACGAGGGGCCTGGAGGGGCAGGTGGGGGCAGCCGGGCCCAATCGAGGGGCACAGCCACAGGGTTCAGCAGGCCCAGGCTGAGTACACATCCTCCAGGGGGCTGGCGCCCTAGACCCGCCCGGCCTGGGCCACCAAGCTGTGCCAGAGACACTGCAGTGGCAGTGGCAGCTGCATAGGGCCCCTCAAGGGGGAAGCCACCAGGGGAAGCAGGGGGCCCACCGAAAGGCCGCGGGGAGTCCAGCGAGTCCACGGGCGACAGCGTGACCGAGCTGTCAGCCAGGGGGCCCGGGCAGGCCAGCGTCAGCTTCTTGCCCCGCCCCCGGGGCCCCTGCGGCCCCAGCCCCGCCTTCCCGGGGGGCCTCCTGCTCTTCTTGGACCCCGACTGTGCCGCTTTGAGGCCAGGGAGGAAGGCCCCTGGAGGACAGAGCAGAGGCCCCAGGCCGTGGGGACCGGGGGGGCTGCGGGGCCCACTGGGTTGATCCAGCAAGCGCACGATGTCCTGGTGCAGTCTCTCCTGGGCTACGTCCCGCGGCAGCCTGTCCAGGTGGTCGGTGATCTCACGGTTGGCAAAGTGGTCCAACAGCAGCTTGGCAGCCTCATAGCTGCCCTCGCGGGCGGCCAGGAATAGGGGGGTCTCCTCCTGGGGGGCCAGAACCCACAGAGGTCAGCGAAACCCCAGCTAACAGTAGCAAAGTCTTCCAGCCTCTTGGGGGAGCCCGAGAGCTATGAGTTTGTACACTGGAGCTTGACAGACCTGGGTTAAATCCCGGCTGTGCTGGGGGAGCCTGGACAAGTTCTTTCCTCTAAACCACATTCATCCATCACCTACTAAGTGCCAGAGGTCAAGGCCAGGACTAGGGTGAGTTAAGCGAGGTACTCACCTTAGGCATAACTTTTTTTTTCTTGTCTTTTTTTTTTTTTTTTTTTGACAGAGTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATTTCAGTTCACTGCAACCTCAGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGTGTGCACCACTACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTTACTACGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTAATCCACCCATCTCGACCTCCCAAAGTGCTGGGATTATAGGCATGAACCACCACACCCAGCCATTAGGCACAAAATTTAAGGGGCCCCCAAAAACTTTAGTCACCAAAGTAAATTATATTTTAATCCAATGTTTGGGGTTTTATTTTGTTTTGTTTTTTGAGAGAGTCTCACTCTGTTGCCCAGGCTGGATTGCAATGGCACTGTGCCACTGCTGACACCCAGTGGACCAAGGGCTGGGGCTCACCTTGCTATCCTGCATGTCCTTATTGGCTCCATTTTTGAGCAGGGCCAAAGTGGCTTCCACGTTGTTCACAGCCGCAGCCCAGTGTAAGGCTGATTTCCCTGGAGGATGAAGGGGAGAGAGGTCAGGACCAGGCACCTGTCCTGGGGCCCCCATGTCAGGGAGGCAGAAATTGTCTAGAATGTGGCCTAGGGGTAGAGGAGGCAGGCCTGCCGTGAATATCCAAGTACTTGTGTCTGGATCCATGTGTGTGCAAATCTGCAAAATGACTCTGTGCAATGGGGAAGCACTTTGTGTCTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGCGTGCATGTGCATGACTGTTTATACACAGGGGGTGCTGTGTGGACCTCCTTCAGTTGAACCTAGGGTTGTGACATCCAATACAGTAGTCAGTCACATGTGGTTTTTATTTATCCATTTATTTATTTTTGAGGTAGTGTCTTGTTCTGTCACCCAGGCTGGAGTCCATTGGCACAATCTCAGTTCACTGC
|
AGTAGACTTTTGTGTCATTTGCAACCAGGAGCACTCCAACTGACAGAATCAACGAACATTAAATCCTATCCTCCTTTCCTGAAGACACCAGTGTAAACAGAACCTTGTCTTGGAGCACGACTGGTTGCGAGTAACAGAAACCCACCGAAGCTGGCACAAGTAAAGAAGTATTTATTACATGGGTCCAAGGTTATCTCCAAAACCCATAGGAGCATGAAGTAAAAGTGAAATTCATGCAGAACCATGATCAGATACTTAGAAAGCAATTAATAAATACCTGTTGATCTCAATGGAATGAACACTCAATTAACTGGAATTGATAACTGCACTGGGAGCCGAGATAACCCCCCCAGCCCTCAAGGAGCCATTTGAGCTCTCATTTCTGATTCTCCCTGAATATTAGCTTCATTCTTCTGCCCTGTTTGCTTGTCTCTTTGCCCACCACCTCGAATTGGCCACTGATATTTCTAAATCTGATTGTGACCTTAAGAGCTCCACCAACTGACAACTTTCTTAGCCTCTCCATTAAAGAAAGTTCTCGAGCAAAAGAATCTGATTGGCTCAGCTTAAGTCAGGTGACAACCACTAATCCAATCGGTAGTCATCTGCCAAAAGAGGAAGCATAAGTAGACTGGCAAGTCAAATGTATTTACCCCAAGATGGGAGCTCAAGTTAGCCCTGGGTGGGGGAGATAGAAGTCCCACTGCCACCACTCCCCACCTTACCTAGACACAGACCAACAACACTGAGTGTTAACTATTCCTTTATTAGGTGGTGAGGGGAGTGGGGGGCTGTACAATGCAGGGCTTGGGAATTCAGCTACACAGGGATTTTGACCAGAAGCCATATTACAAAAATAGCCTAAAAATACCTCTATTCTGCCATGAGGCTGGGCCAGAGGATTACCAGGAAGAGAAAGTACCACTCAGGCAGCTCCTCTTCTTGTAGTCCCACATTTACAGGGACACAAAGGAATGCATACATCTGCCCTGGCTCCCATTTCCCACCAGCAGCCCCCTAGTTCCCAAAGGGAGATGGCCAAGGGTGGGGCTGGGGCAGAGGGAGTTGGCAGTGGGCCCTTCCCCAGCAAGGCTATGGAACATGTCCCATCTGGAATGCAGTGAAGTGAGGGAGGTGGGGTGGGGAGGAGGCTCCCAACACTCCCCCGACCCCTGGCCCCAGTGGGTGCGCCCAAGGGTGCCTACTTGGTACATACCTGGGTCGTGTACTCGGTACACGGGATCCCAGTCATGCCTGTGTACTAGGTACACAGAATCCAGCTTGGCCGAATGGGCCCACAGACTCAGCCCCACGGGGGCACTGGGGGGTTCACAGGGGGAGGGAGCATCTCCATATATATATTTTGTAAAAAATAATAATAATAAGTTTGTTTAAATGAATTTGTTTCTATACAAAATGTAAAAAAAAAAAGAAAAATAAAAATAATAATAATTCATTCATGTCAGAGTGTAAGGAAATGAGAGGCCAGAAGGAGAGAGAAAGGAATGAGGGAAGAGAGAAGTGGGGAAGAAGGAGGTCCCAGACTCTTCACAAGACTGAGAGGGTGGGTGGTAGCCCCCACCCATTATAAATAAAGGAAGACTGAAGCCCTGGGCTGATGACCTATCTCGGTCACGCTGCAAGGCAAGGATGCAGGAGGGTTGGTGGAAAGAGAAGAGGATGAAAAAGACTAAAAGGAAGGAAGAGACAGAGAAAGAAAGGAGGCAGGACGGGGGTCTCTTTAGGCCCCCAAGATCTAAGAACTGACGAGCGTCTCAGGCCAACACTTGCCTCTTGGGGGTAACTTCCGGCTGGGGCCCCAGCTGGGTCTGGGCCTGAGCAAGGGAGCTGGGAACAGACAAGGGAAGTGGCTGGGCAGGCAGTGCCCCAGTGGTGGTGGCCATGGCCCCAGTGGCAGTGGCTGGGCTAGGCGTGGATTCGGACCAGTCTGAGAGGGAGGGAGGTGAGGGGCTGGCCCAGTGCTCAGGGGATTCGGGGGATGGGGTCAGGTAAGGGTGCTCACTGGGAACCCGCAGGAAGCGGGCCTTTGGGGGGGCTGCTGTGTGCCCCAGCCGCCGGGTACTCCTCGCCATGTCCTGGGACTGCCAGGTAAGGCGGGGGCCGCTCCTGCGGGGAGACGGGGGTCCCTGGGTTGAGCAGCTGGGGTCCCGGCGCCAGTGGCAGCAGGAACGAGGGGCCTGGAGGGGCAGGTGGGGGCAGCCGGGCCCAATCGAGGGGCACAGCCACAGGGTTCAGCAGGCCCAGGCTGAGTACACATCCTCCAGGGGGCTGGCGCCCTAGACCCGCCCGGCCTGGGCCACCAAGCTGTGCCAGAGACACTGCAGTGGCAGTGGCAGCTGCATAGGGCCCCTCAAGGGGGAAGCCACCAGGGGAAGCAGGGGGCCCACCGAAAGGCCGCGGGGAGTCCAGCGAGTCCACGGGCGACAGCGTGACCGAGCTGTCAGCCAGGGGGCCCGGGCAGGCCAGCGTCAGCTTCTTGCCCCGCCCCCGGGGCCCCTGCGGCCCCAGCCCCGCCTTCCCGGGGGGCCTCCTGCTCTTCTTGGACCCCGACTGTGCCGCTTTGAGGCCAGGGAGGAAGGCCCCTGGAGGACAGAGCAGAGGCCCCAGGCCGTGGGGACCGGGGGGGCTGCGGGGCCCACTGGGTTGATCCAGCAAGCGCACGATGTCCTGGTGCAGTCTCTCCTGGGCTACGTCCCGCGGCAGCCTGTCCAGGTGGTCGGTGATCTCACGGTTGGCAAAGTGGTCCAACAGCAGCTTGGCAGCCTCATAGCTGCCCTCGCGGGCGGCCAGGAATAGGGGGGTCTCCTCCTGGGGGGCCAGAACCCACAGAGGTCAGCGAAACCCCAGCTAACAGTAGCAAAGTCTTCCAGCCTCTTGGGGGAGCCCGAGAGCTATGAGTTTGTACACTGGAGCTTGACAGACCTGGGTTAAATCCCGGCTGTGCTGGGGGAGCCTGGACAAGTTCTTTCCTCTAAACCACATTCATCCATCACCTACTAAGTGCCAGAGGTCAAGGCCAGGACTAGGGTGAGTTAAGCGAGGTACTCACCTTAGGCATAACTTTTTTTTTCTTGTCTTTTTTTTTTTTTTTTTTTGACAGAGTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATTTCAGTTCACTGCAACCTCAGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGTGTGCACCACTACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTTACTACGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTAATCCACCCATCTCGACCTCCCAAAGTGCTGGGATTATAGGCATGAACCACCACACCCAGCCATTAGGCACAAAATTTAAGGGGCCCCCAAAAACTTTAGTCACCAAAGTAAATTATATTTTAATCCAATGTTTGGGGTTTTATTTTGTTTTGTTTTTTGAGAGAGTCTCACTCTGTTGCCCAGGCTGGATTGCAATGGCACTGTGCCACTGCTGACACCCAGTGGACCAAGGGCTGGGGCTCACCTTGCTATCCTGCATGTCCTTATTGGCTCCATTTTTGAGCAGGGCCAAAGTGGCTTCCACGTTGTTCACAGCCGCAGCCCAGTGTAAGGCTGATTTCCCTGGAGGATGAAGGGGAGAGAGGTCAGGACCAGGCACCTGTCCTGGGGCCCCCATGTCAGGGAGGCAGAAATTGTCTAGAATGTGGCCTAGGGGTAGAGGAGGCAGGCCTGCCGTGAATATCCAAGTACTTGTGTCTGGATCCATGTGTGTGCAAATCTGCAAAATGACTCTGTGCAATGGGGAAGCACTTTGTGTCTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGCGTGCATGTGCATGACTGTTTATACACAGGGGGTGCTGTGTGGACCTCCTTCAGTTGAACCTAGGGTTGTGACATCCAATACAGTAGTCAGTCACATGTGGTTTTTATTTATCCATTTATTTATTTTTGAGGTAGTGTCTTGTTCTGTCACCCAGGCTGGAGTCCATTGGCACAATCTCAGTTCACTG
|
pathogenic
| 300,469 |
Does the variant on chromosome 19 at location 15161221 affecting gene NOTCH3 (notch receptor 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Lateral_meningocele_syndrome']
|
TCAATGGAATGAACACTCAATTAACTGGAATTGATAACTGCACTGGGAGCCGAGATAACCCCCCCAGCCCTCAAGGAGCCATTTGAGCTCTCATTTCTGATTCTCCCTGAATATTAGCTTCATTCTTCTGCCCTGTTTGCTTGTCTCTTTGCCCACCACCTCGAATTGGCCACTGATATTTCTAAATCTGATTGTGACCTTAAGAGCTCCACCAACTGACAACTTTCTTAGCCTCTCCATTAAAGAAAGTTCTCGAGCAAAAGAATCTGATTGGCTCAGCTTAAGTCAGGTGACAACCACTAATCCAATCGGTAGTCATCTGCCAAAAGAGGAAGCATAAGTAGACTGGCAAGTCAAATGTATTTACCCCAAGATGGGAGCTCAAGTTAGCCCTGGGTGGGGGAGATAGAAGTCCCACTGCCACCACTCCCCACCTTACCTAGACACAGACCAACAACACTGAGTGTTAACTATTCCTTTATTAGGTGGTGAGGGGAGTGGGGGGCTGTACAATGCAGGGCTTGGGAATTCAGCTACACAGGGATTTTGACCAGAAGCCATATTACAAAAATAGCCTAAAAATACCTCTATTCTGCCATGAGGCTGGGCCAGAGGATTACCAGGAAGAGAAAGTACCACTCAGGCAGCTCCTCTTCTTGTAGTCCCACATTTACAGGGACACAAAGGAATGCATACATCTGCCCTGGCTCCCATTTCCCACCAGCAGCCCCCTAGTTCCCAAAGGGAGATGGCCAAGGGTGGGGCTGGGGCAGAGGGAGTTGGCAGTGGGCCCTTCCCCAGCAAGGCTATGGAACATGTCCCATCTGGAATGCAGTGAAGTGAGGGAGGTGGGGTGGGGAGGAGGCTCCCAACACTCCCCCGACCCCTGGCCCCAGTGGGTGCGCCCAAGGGTGCCTACTTGGTACATACCTGGGTCGTGTACTCGGTACACGGGATCCCAGTCATGCCTGTGTACTAGGTACACAGAATCCAGCTTGGCCGAATGGGCCCACAGACTCAGCCCCACGGGGGCACTGGGGGGTTCACAGGGGGAGGGAGCATCTCCATATATATATTTTGTAAAAAATAATAATAATAAGTTTGTTTAAATGAATTTGTTTCTATACAAAATGTAAAAAAAAAAAGAAAAATAAAAATAATAATAATTCATTCATGTCAGAGTGTAAGGAAATGAGAGGCCAGAAGGAGAGAGAAAGGAATGAGGGAAGAGAGAAGTGGGGAAGAAGGAGGTCCCAGACTCTTCACAAGACTGAGAGGGTGGGTGGTAGCCCCCACCCATTATAAATAAAGGAAGACTGAAGCCCTGGGCTGATGACCTATCTCGGTCACGCTGCAAGGCAAGGATGCAGGAGGGTTGGTGGAAAGAGAAGAGGATGAAAAAGACTAAAAGGAAGGAAGAGACAGAGAAAGAAAGGAGGCAGGACGGGGGTCTCTTTAGGCCCCCAAGATCTAAGAACTGACGAGCGTCTCAGGCCAACACTTGCCTCTTGGGGGTAACTTCCGGCTGGGGCCCCAGCTGGGTCTGGGCCTGAGCAAGGGAGCTGGGAACAGACAAGGGAAGTGGCTGGGCAGGCAGTGCCCCAGTGGTGGTGGCCATGGCCCCAGTGGCAGTGGCTGGGCTAGGCGTGGATTCGGACCAGTCTGAGAGGGAGGGAGGTGAGGGGCTGGCCCAGTGCTCAGGGGATTCGGGGGATGGGGTCAGGTAAGGGTGCTCACTGGGAACCCGCAGGAAGCGGGCCTTTGGGGGGCTGCTGTGTGCCCCAGCCGCCGGGTACTCCTCGCCATGTCCTGGGACTGCCAGGTAAGGCGGGGGCCGCTCCTGCGGGGAGACGGGGGTCCCTGGGTTGAGCAGCTGGGGTCCCGGCGCCAGTGGCAGCAGGAACGAGGGGCCTGGAGGGGCAGGTGGGGGCAGCCGGGCCCAATCGAGGGGCACAGCCACAGGGTTCAGCAGGCCCAGGCTGAGTACACATCCTCCAGGGGGCTGGCGCCCTAGACCCGCCCGGCCTGGGCCACCAAGCTGTGCCAGAGACACTGCAGTGGCAGTGGCAGCTGCATAGGGCCCCTCAAGGGGGAAGCCACCAGGGGAAGCAGGGGGCCCACCGAAAGGCCGCGGGGAGTCCAGCGAGTCCACGGGCGACAGCGTGACCGAGCTGTCAGCCAGGGGGCCCGGGCAGGCCAGCGTCAGCTTCTTGCCCCGCCCCCGGGGCCCCTGCGGCCCCAGCCCCGCCTTCCCGGGGGGCCTCCTGCTCTTCTTGGACCCCGACTGTGCCGCTTTGAGGCCAGGGAGGAAGGCCCCTGGAGGACAGAGCAGAGGCCCCAGGCCGTGGGGACCGGGGGGGCTGCGGGGCCCACTGGGTTGATCCAGCAAGCGCACGATGTCCTGGTGCAGTCTCTCCTGGGCTACGTCCCGCGGCAGCCTGTCCAGGTGGTCGGTGATCTCACGGTTGGCAAAGTGGTCCAACAGCAGCTTGGCAGCCTCATAGCTGCCCTCGCGGGCGGCCAGGAATAGGGGGGTCTCCTCCTGGGGGGCCAGAACCCACAGAGGTCAGCGAAACCCCAGCTAACAGTAGCAAAGTCTTCCAGCCTCTTGGGGGAGCCCGAGAGCTATGAGTTTGTACACTGGAGCTTGACAGACCTGGGTTAAATCCCGGCTGTGCTGGGGGAGCCTGGACAAGTTCTTTCCTCTAAACCACATTCATCCATCACCTACTAAGTGCCAGAGGTCAAGGCCAGGACTAGGGTGAGTTAAGCGAGGTACTCACCTTAGGCATAACTTTTTTTTTCTTGTCTTTTTTTTTTTTTTTTTTTGACAGAGTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATTTCAGTTCACTGCAACCTCAGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGTGTGCACCACTACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTTACTACGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTAATCCACCCATCTCGACCTCCCAAAGTGCTGGGATTATAGGCATGAACCACCACACCCAGCCATTAGGCACAAAATTTAAGGGGCCCCCAAAAACTTTAGTCACCAAAGTAAATTATATTTTAATCCAATGTTTGGGGTTTTATTTTGTTTTGTTTTTTGAGAGAGTCTCACTCTGTTGCCCAGGCTGGATTGCAATGGCACTGTGCCACTGCTGACACCCAGTGGACCAAGGGCTGGGGCTCACCTTGCTATCCTGCATGTCCTTATTGGCTCCATTTTTGAGCAGGGCCAAAGTGGCTTCCACGTTGTTCACAGCCGCAGCCCAGTGTAAGGCTGATTTCCCTGGAGGATGAAGGGGAGAGAGGTCAGGACCAGGCACCTGTCCTGGGGCCCCCATGTCAGGGAGGCAGAAATTGTCTAGAATGTGGCCTAGGGGTAGAGGAGGCAGGCCTGCCGTGAATATCCAAGTACTTGTGTCTGGATCCATGTGTGTGCAAATCTGCAAAATGACTCTGTGCAATGGGGAAGCACTTTGTGTCTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGCGTGCATGTGCATGACTGTTTATACACAGGGGGTGCTGTGTGGACCTCCTTCAGTTGAACCTAGGGTTGTGACATCCAATACAGTAGTCAGTCACATGTGGTTTTTATTTATCCATTTATTTATTTTTGAGGTAGTGTCTTGTTCTGTCACCCAGGCTGGAGTCCATTGGCACAATCTCAGTTCACTGCAACCTCTACCTGCTGGGCTCAGGCGATTTTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTGATTTTTTGTATTTTTGATAGAGATAGAGTTCCACTATGTTGCCCAAACTGGTCTCAAACTCCTAAGCTCAAGTGATCCACCAGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCCAACCTACATGTGGTTCTTTAGATTTAAATTTAATAAAATAGGTGCCAGGACCATTCAATGGGGAAAGA
|
TCAATGGAATGAACACTCAATTAACTGGAATTGATAACTGCACTGGGAGCCGAGATAACCCCCCCAGCCCTCAAGGAGCCATTTGAGCTCTCATTTCTGATTCTCCCTGAATATTAGCTTCATTCTTCTGCCCTGTTTGCTTGTCTCTTTGCCCACCACCTCGAATTGGCCACTGATATTTCTAAATCTGATTGTGACCTTAAGAGCTCCACCAACTGACAACTTTCTTAGCCTCTCCATTAAAGAAAGTTCTCGAGCAAAAGAATCTGATTGGCTCAGCTTAAGTCAGGTGACAACCACTAATCCAATCGGTAGTCATCTGCCAAAAGAGGAAGCATAAGTAGACTGGCAAGTCAAATGTATTTACCCCAAGATGGGAGCTCAAGTTAGCCCTGGGTGGGGGAGATAGAAGTCCCACTGCCACCACTCCCCACCTTACCTAGACACAGACCAACAACACTGAGTGTTAACTATTCCTTTATTAGGTGGTGAGGGGAGTGGGGGGCTGTACAATGCAGGGCTTGGGAATTCAGCTACACAGGGATTTTGACCAGAAGCCATATTACAAAAATAGCCTAAAAATACCTCTATTCTGCCATGAGGCTGGGCCAGAGGATTACCAGGAAGAGAAAGTACCACTCAGGCAGCTCCTCTTCTTGTAGTCCCACATTTACAGGGACACAAAGGAATGCATACATCTGCCCTGGCTCCCATTTCCCACCAGCAGCCCCCTAGTTCCCAAAGGGAGATGGCCAAGGGTGGGGCTGGGGCAGAGGGAGTTGGCAGTGGGCCCTTCCCCAGCAAGGCTATGGAACATGTCCCATCTGGAATGCAGTGAAGTGAGGGAGGTGGGGTGGGGAGGAGGCTCCCAACACTCCCCCGACCCCTGGCCCCAGTGGGTGCGCCCAAGGGTGCCTACTTGGTACATACCTGGGTCGTGTACTCGGTACACGGGATCCCAGTCATGCCTGTGTACTAGGTACACAGAATCCAGCTTGGCCGAATGGGCCCACAGACTCAGCCCCACGGGGGCACTGGGGGGTTCACAGGGGGAGGGAGCATCTCCATATATATATTTTGTAAAAAATAATAATAATAAGTTTGTTTAAATGAATTTGTTTCTATACAAAATGTAAAAAAAAAAAGAAAAATAAAAATAATAATAATTCATTCATGTCAGAGTGTAAGGAAATGAGAGGCCAGAAGGAGAGAGAAAGGAATGAGGGAAGAGAGAAGTGGGGAAGAAGGAGGTCCCAGACTCTTCACAAGACTGAGAGGGTGGGTGGTAGCCCCCACCCATTATAAATAAAGGAAGACTGAAGCCCTGGGCTGATGACCTATCTCGGTCACGCTGCAAGGCAAGGATGCAGGAGGGTTGGTGGAAAGAGAAGAGGATGAAAAAGACTAAAAGGAAGGAAGAGACAGAGAAAGAAAGGAGGCAGGACGGGGGTCTCTTTAGGCCCCCAAGATCTAAGAACTGACGAGCGTCTCAGGCCAACACTTGCCTCTTGGGGGTAACTTCCGGCTGGGGCCCCAGCTGGGTCTGGGCCTGAGCAAGGGAGCTGGGAACAGACAAGGGAAGTGGCTGGGCAGGCAGTGCCCCAGTGGTGGTGGCCATGGCCCCAGTGGCAGTGGCTGGGCTAGGCGTGGATTCGGACCAGTCTGAGAGGGAGGGAGGTGAGGGGCTGGCCCAGTGCTCAGGGGATTCGGGGGATGGGGTCAGGTAAGGGTGCTCACTGGGAACCCGCAGGAAGCGGGCCTTTGGGGGGCTGCTGTGTGCCCCAGCCGCCGGGTACTCCTCGCCATGTCCTGGGACTGCCAGGTAAGGCGGGGGCCGCTCCTGCGGGGAGACGGGGGTCCCTGGGTTGAGCAGCTGGGGTCCCGGCGCCAGTGGCAGCAGGAACGAGGGGCCTGGAGGGGCAGGTGGGGGCAGCCGGGCCCAATCGAGGGGCACAGCCACAGGGTTCAGCAGGCCCAGGCTGAGTACACATCCTCCAGGGGGCTGGCGCCCTAGACCCGCCCGGCCTGGGCCACCAAGCTGTGCCAGAGACTGCAGTGGCAGTGGCAGCTGCATAGGGCCCCTCAAGGGGGAAGCCACCAGGGGAAGCAGGGGGCCCACCGAAAGGCCGCGGGGAGTCCAGCGAGTCCACGGGCGACAGCGTGACCGAGCTGTCAGCCAGGGGGCCCGGGCAGGCCAGCGTCAGCTTCTTGCCCCGCCCCCGGGGCCCCTGCGGCCCCAGCCCCGCCTTCCCGGGGGGCCTCCTGCTCTTCTTGGACCCCGACTGTGCCGCTTTGAGGCCAGGGAGGAAGGCCCCTGGAGGACAGAGCAGAGGCCCCAGGCCGTGGGGACCGGGGGGGCTGCGGGGCCCACTGGGTTGATCCAGCAAGCGCACGATGTCCTGGTGCAGTCTCTCCTGGGCTACGTCCCGCGGCAGCCTGTCCAGGTGGTCGGTGATCTCACGGTTGGCAAAGTGGTCCAACAGCAGCTTGGCAGCCTCATAGCTGCCCTCGCGGGCGGCCAGGAATAGGGGGGTCTCCTCCTGGGGGGCCAGAACCCACAGAGGTCAGCGAAACCCCAGCTAACAGTAGCAAAGTCTTCCAGCCTCTTGGGGGAGCCCGAGAGCTATGAGTTTGTACACTGGAGCTTGACAGACCTGGGTTAAATCCCGGCTGTGCTGGGGGAGCCTGGACAAGTTCTTTCCTCTAAACCACATTCATCCATCACCTACTAAGTGCCAGAGGTCAAGGCCAGGACTAGGGTGAGTTAAGCGAGGTACTCACCTTAGGCATAACTTTTTTTTTCTTGTCTTTTTTTTTTTTTTTTTTTGACAGAGTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATTTCAGTTCACTGCAACCTCAGCCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGTGTGCACCACTACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTTACTACGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTAATCCACCCATCTCGACCTCCCAAAGTGCTGGGATTATAGGCATGAACCACCACACCCAGCCATTAGGCACAAAATTTAAGGGGCCCCCAAAAACTTTAGTCACCAAAGTAAATTATATTTTAATCCAATGTTTGGGGTTTTATTTTGTTTTGTTTTTTGAGAGAGTCTCACTCTGTTGCCCAGGCTGGATTGCAATGGCACTGTGCCACTGCTGACACCCAGTGGACCAAGGGCTGGGGCTCACCTTGCTATCCTGCATGTCCTTATTGGCTCCATTTTTGAGCAGGGCCAAAGTGGCTTCCACGTTGTTCACAGCCGCAGCCCAGTGTAAGGCTGATTTCCCTGGAGGATGAAGGGGAGAGAGGTCAGGACCAGGCACCTGTCCTGGGGCCCCCATGTCAGGGAGGCAGAAATTGTCTAGAATGTGGCCTAGGGGTAGAGGAGGCAGGCCTGCCGTGAATATCCAAGTACTTGTGTCTGGATCCATGTGTGTGCAAATCTGCAAAATGACTCTGTGCAATGGGGAAGCACTTTGTGTCTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGCGTGCATGTGCATGACTGTTTATACACAGGGGGTGCTGTGTGGACCTCCTTCAGTTGAACCTAGGGTTGTGACATCCAATACAGTAGTCAGTCACATGTGGTTTTTATTTATCCATTTATTTATTTTTGAGGTAGTGTCTTGTTCTGTCACCCAGGCTGGAGTCCATTGGCACAATCTCAGTTCACTGCAACCTCTACCTGCTGGGCTCAGGCGATTTTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTGATTTTTTGTATTTTTGATAGAGATAGAGTTCCACTATGTTGCCCAAACTGGTCTCAAACTCCTAAGCTCAAGTGATCCACCAGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGTGCCCAACCTACATGTGGTTCTTTAGATTTAAATTTAATAAAATAGGTGCCAGGACCATTCAATGGGGAAAGANN
|
pathogenic
| 300,481 |
Does the genetic variant at chromosome 19, position 15174055, impacting gene NOTCH3 (notch receptor 3), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
CTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCCAGTAATTTTGTATTTTTAGTATACACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCGCCTCAACCTCCCAAAGTGCTGGGATCACAGTTGTGAGCCATCACACCTGGCCTCTTCCTCTTTTTTGAGCTAATTCCATTCATCCAATCCTTAGGTCTCCGTGTCCCCAGATTAATTCTTCTGTTCCTTCTCTCCCCACTCCTTTGAGTCCCTCTCATGGCTTCAATGATCATCAACACTTTTATATCTTTCTTGTTTGTGTCTTTAGCCCCCAGGTATCTCCTTGGAGGCCTTCCCAATACTTCCAGGTCCCTCAGACTCTGCAAGCTCCAAAATGACCTGTTTTTCACTTTGTGGCCCTATCACTCAGCTTAGCCAGGGGCTGGTACACCAACCACTCTCCTTCATCCCTCTACCCCTCCCCTTCCACCACCCACATCCCAATATCTGCAAAACCCAACCCTCCTCTCTGTATCAGAGACCCACCCCTCTCAGGTCTCTGCCTTCTCCTCAACAATAGCTACACCTCCCTTCTGGTACCTCTACCAGGCCACTAGCAGGATACTTCTATATTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTTGCCCCGGCTGGAGTGCAGTAGCACAATCTTGGCTCACTGCAACCTTCACTTCCTGAGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTAAAGGCATACACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGACGTCAAATGAACTGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCCTCCTATTTCTTTCTTCTTCTTCCTCTTCCTCCTCCTCCTCCCCCTCCCCCTCTTCCTTCTTCTTCCTCTTCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTAAGAGATCGGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAAGTCAGGAGATCCAGACCATCCTGGCTAACACACTGAAACCCCGTCTCTTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGCCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGAAAGCCGAGATCGCGCCTCTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATGGGAGTCTTGCTATGTTGCCCAGGCTAGATTTGAATTCCTGGGCTCAAGTGATCCTCCAAGTAGCTGGGACTACAAGAATATATTGTGCCCGGCTTTATCTTCTATGTCTTTAAGAAGAAGAAAATTAGCCCGGTGTGGTGGTGGATGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAAAAAACCCTACACATGTATTTAACCACTCTGCCAAGCCACTTAGCAACCTGCCTCCCCACAAGCCAGCACTAGACCTGGGCAATTCTACCCCAGAAGCACTAGCTCCATCTGGAGGCATTTTTTGCTTGTCACAGCCAGGAGGCGGTGCTCCTGACATCTGGTGGGTAAAGGCATTAAGTGAAATGAAACACACAAGACCTGGATCAACAGCATCTCTCCTCTCCCCAGCCACCACGGCTTTTCCAGGTGGGGTCACTCACCCGATCACCTCGGGGGCCAGCTCCCGACGGGCCCGGGGTTCGGAGCCAGGACTAGGCCGGTGGTAAGGGAAGACCATGGCCTGGCCGTGCGCGTCCAGGCGGAAGCGCAGCGAGGTGCGCAGGATGGCGCTGAGCCGCTGCAGAAAGTCGGCGCTGGAACGCAGTAGCTCCTCTGGCGGCAGCAGCACTGTGAGCACCAGCACGCCGCGGGCCAGCAGGGCCGGCACCTCGCTGGCACAATCCAGCCCATCCCAGCCGCACTCCTCCGTGTTGCAGCCCTGGTCGCAGCGGCCGTCGGCAAAGTGGTCGGCGCAGTACTTCTCGTACACCGGGCTGGTGGGGAAGGGTGAGGCAGAGAGGGGCGGAGTCAGGGGTCAGAGGAGACAATCCCCTTCCATGCATTCACACCGTAGAGTACAGAGACTCCAGACAAGGCTTGCACAGGGGACTGGAATATACGGACCCATGCCAGGCTTTCTGCAAATCTTGCCATTCACTGGATAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGAATGCAGTAGCATGATCTCTCAGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGTCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACTATGTTGGCCAGGCTGCTGTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATAAGTCACCGCACGCAGCCCTTGATAATATTTTTTTAAATTGATTGATTGAAATGGGGTCTTGCTCTGTTGCCCACGCCGGAGTGCAGTGGTGCAATCATAGCTCTCTGCAATCTCAAACTCCTGGACTCAAATTATCCTCCCTCTTCAGCCTCCCAAGTAGCTAGGACTACAAACCCACACCACACTCCCGGCCTCACTGGCTAACTATTAATTAATCAGTAAATACTAACTGACTACCATGTGTTGGGCACTGCTGCAGGCACAAGGATAAGGCCCGGCCACAATTCCTGGTCCACGTGCAGCTGGCATTCCACTGGGTGAAGACAGATAGTAAGGGAGATACATGAGCCAAATATACAGCATCTCCATTACTCATCAATAAAATAAAAATACAGGCTGGGTGCGGTGGCTCATGCCTCTAATTCCAGCACTTTGGGAGGCCAAGGTGTACGGATAACCTGAGGTCAGGAGTTCTAGGCCAGCCTGGCCAAAATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAATGGGAGAGAAATCCTGTCTAAAAAAAAAAAAAAAAAAAATACATATATATATATATATATGTATATATATGTATATACACACACACACACACACACACACGCACGCACACACATAGTGCTGGATGGAATTAAATGCTAAGCAGAAAAATAAAGCAGAGGAAGGGCTGGGGGTGACCAGGGAGGTGCTCACTGAGAAGGTACCACCATTTCAGCAAAGACTTGAAGGAGGTGAGGGAGGAGCCATGTGGGGGAAGGGAACAGCCAGGCAGTAGGAACAGCTTGTGCAAAGGCCCTGATATGGGATCAAGCCTGGGGTATCTGGGAAACAGCAGAGAGGCCAGGGTGGCTGGAACAGAGTGAGTGAGGGGAAAGCAGAGAAGATGAGGATGTGGAGATTAAGGGGGTGGAGGGTTCCAAGCAGACAGAGAGGTACGCAGAGGACAGAAGGGGCAGGGTGTAGGGATGGACAGATGGACTGCCTAGGACAGACAGAGAGAGGGGCAGAAGAGGGGCAGAGATAGTCAGGGGCACCCACAGATAGCCATATAGAGGAGCAAAAAGAGTGCATGGATGGACAGATTCGGCCCA
|
CTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCCAGTAATTTTGTATTTTTAGTATACACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCGCCTCAACCTCCCAAAGTGCTGGGATCACAGTTGTGAGCCATCACACCTGGCCTCTTCCTCTTTTTTGAGCTAATTCCATTCATCCAATCCTTAGGTCTCCGTGTCCCCAGATTAATTCTTCTGTTCCTTCTCTCCCCACTCCTTTGAGTCCCTCTCATGGCTTCAATGATCATCAACACTTTTATATCTTTCTTGTTTGTGTCTTTAGCCCCCAGGTATCTCCTTGGAGGCCTTCCCAATACTTCCAGGTCCCTCAGACTCTGCAAGCTCCAAAATGACCTGTTTTTCACTTTGTGGCCCTATCACTCAGCTTAGCCAGGGGCTGGTACACCAACCACTCTCCTTCATCCCTCTACCCCTCCCCTTCCACCACCCACATCCCAATATCTGCAAAACCCAACCCTCCTCTCTGTATCAGAGACCCACCCCTCTCAGGTCTCTGCCTTCTCCTCAACAATAGCTACACCTCCCTTCTGGTACCTCTACCAGGCCACTAGCAGGATACTTCTATATTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTTGCCCCGGCTGGAGTGCAGTAGCACAATCTTGGCTCACTGCAACCTTCACTTCCTGAGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTAAAGGCATACACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGACGTCAAATGAACTGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCCTCCTATTTCTTTCTTCTTCTTCCTCTTCCTCCTCCTCCTCCCCCTCCCCCTCTTCCTTCTTCTTCCTCTTCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTAAGAGATCGGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAAGTCAGGAGATCCAGACCATCCTGGCTAACACACTGAAACCCCGTCTCTTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGCCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGAAAGCCGAGATCGCGCCTCTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATGGGAGTCTTGCTATGTTGCCCAGGCTAGATTTGAATTCCTGGGCTCAAGTGATCCTCCAAGTAGCTGGGACTACAAGAATATATTGTGCCCGGCTTTATCTTCTATGTCTTTAAGAAGAAGAAAATTAGCCCGGTGTGGTGGTGGATGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAAAAAACCCTACACATGTATTTAACCACTCTGCCAAGCCACTTAGCAACCTGCCTCCCCACAAGCCAGCACTAGACCTGGGCAATTCTACCCCAGAAGCACTAGCTCCATCTGGAGGCATTTTTTGCTTGTCACAGCCAGGAGGCGGTGCTCCTGACATCTGGTGGGTAAAGGCATTAAGTGAAATGAAACACACAAGACCTGGATCAACAGCATCTCTCCTCTCCCCAGCCACCACGGCTTTTCCAGGTGGGGGTCACTCACCCGATCACCTCGGGGGCCAGCTCCCGACGGGCCCGGGGTTCGGAGCCAGGACTAGGCCGGTGGTAAGGGAAGACCATGGCCTGGCCGTGCGCGTCCAGGCGGAAGCGCAGCGAGGTGCGCAGGATGGCGCTGAGCCGCTGCAGAAAGTCGGCGCTGGAACGCAGTAGCTCCTCTGGCGGCAGCAGCACTGTGAGCACCAGCACGCCGCGGGCCAGCAGGGCCGGCACCTCGCTGGCACAATCCAGCCCATCCCAGCCGCACTCCTCCGTGTTGCAGCCCTGGTCGCAGCGGCCGTCGGCAAAGTGGTCGGCGCAGTACTTCTCGTACACCGGGCTGGTGGGGAAGGGTGAGGCAGAGAGGGGCGGAGTCAGGGGTCAGAGGAGACAATCCCCTTCCATGCATTCACACCGTAGAGTACAGAGACTCCAGACAAGGCTTGCACAGGGGACTGGAATATACGGACCCATGCCAGGCTTTCTGCAAATCTTGCCATTCACTGGATAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGAATGCAGTAGCATGATCTCTCAGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGTCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACTATGTTGGCCAGGCTGCTGTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATAAGTCACCGCACGCAGCCCTTGATAATATTTTTTTAAATTGATTGATTGAAATGGGGTCTTGCTCTGTTGCCCACGCCGGAGTGCAGTGGTGCAATCATAGCTCTCTGCAATCTCAAACTCCTGGACTCAAATTATCCTCCCTCTTCAGCCTCCCAAGTAGCTAGGACTACAAACCCACACCACACTCCCGGCCTCACTGGCTAACTATTAATTAATCAGTAAATACTAACTGACTACCATGTGTTGGGCACTGCTGCAGGCACAAGGATAAGGCCCGGCCACAATTCCTGGTCCACGTGCAGCTGGCATTCCACTGGGTGAAGACAGATAGTAAGGGAGATACATGAGCCAAATATACAGCATCTCCATTACTCATCAATAAAATAAAAATACAGGCTGGGTGCGGTGGCTCATGCCTCTAATTCCAGCACTTTGGGAGGCCAAGGTGTACGGATAACCTGAGGTCAGGAGTTCTAGGCCAGCCTGGCCAAAATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAATGGGAGAGAAATCCTGTCTAAAAAAAAAAAAAAAAAAAATACATATATATATATATATATGTATATATATGTATATACACACACACACACACACACACACGCACGCACACACATAGTGCTGGATGGAATTAAATGCTAAGCAGAAAAATAAAGCAGAGGAAGGGCTGGGGGTGACCAGGGAGGTGCTCACTGAGAAGGTACCACCATTTCAGCAAAGACTTGAAGGAGGTGAGGGAGGAGCCATGTGGGGGAAGGGAACAGCCAGGCAGTAGGAACAGCTTGTGCAAAGGCCCTGATATGGGATCAAGCCTGGGGTATCTGGGAAACAGCAGAGAGGCCAGGGTGGCTGGAACAGAGTGAGTGAGGGGAAAGCAGAGAAGATGAGGATGTGGAGATTAAGGGGGTGGAGGGTTCCAAGCAGACAGAGAGGTACGCAGAGGACAGAAGGGGCAGGGTGTAGGGATGGACAGATGGACTGCCTAGGACAGACAGAGAGAGGGGCAGAAGAGGGGCAGAGATAGTCAGGGGCACCCACAGATAGCCATATAGAGGAGCAAAAAGAGTGCATGGATGGACAGATTCGGCCC
|
benign
| 300,542 |
Gene NOTCH3 (notch receptor 3) variant at chromosome 19, position 15184890—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
ATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACTGCGCCCAGCCGATTATATACATTCAATAAATTAAATTTAAATATATTAAATTTGGTCAGGCACAGTGGCAGCAGTCTGAGAGTCCAAGGCAGGAGGATGGCTTGAGGCCAGGAGTTTGAGACCAGCCTAGACAACGCAGTGAGACCCCATCTCTACAGAATTAAAATAAAAATATTAGCTAGGCATGTAGTGAGTGCCTGTAATCCTAGCTACTCAGGAGGTTAAGACAGGAGGAATGCCTCAGCCCAGGAGTTCGAGACTGCACTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCCTCACTCTGAATACATAATAAATAAATAAATATAAAATATTAAATTTAATATCTCCCATTTCTGTTTATTTTTTAATGTGGCTACTAGAAAATTTAAAATTGCATATGTGGCTTGTGTTATTTATCTGTTTGGCAGCACCCCTTTTTGTTTGTTTGTTTGTTTGTTTGTTCGTTTTTGAGACGGAGTTATGCCTTGTTGCCCAGGCTGCAGTACAATGACACAATCTCAGCTCACCGTAATCTCCACCTCCAAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCTGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCTCGCCCGGCCTCTGGGGGGCCTTTTATCTCATACTTTGCACATGATATTAACTCGATTGCTCTCAAAGACAGTGCACTTAGGTCGGGTGTGGTTGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTGGAGACAGGTAGATTGCTTGAGCCCAGGAATTGGAGACCACCGTGGGCAACATGGCGAAACTCCGTCTCTACAAAAAACACAAAATATTAGCTGGGCGCTGTGGTGTGCGCCTATAGTCGCAGCCACTGGGGAGGCTGAGGTGCTTGAGCCCAGAAGGCAGAGGTTGCAGTGAGCGATGATTGCAACACTGCACTCCAGCGACAGAGCTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGCAGCACACAGACTCCAAGGTTCTAAGCCCAGCTCATTCCCTAACTCGTTCCATGGGCTTGCACAAGAAGTCACTCAACCTCCTCGGGCCTCAGTTTCCATATAAATAAAACGGGAAAAGTAAGATAACTGTGAAGATGAAATGACAGCACAGTGCCAGGCACACAGTTCAAGCTTAATGACTGTGTTCCCCAGAGCAGCACCCCCAAGAGCTCCCCTGCACTCACTGGGGTCACAGTCATTGATGTCCTGATCGCAGGAAGGGCCAGTGTACCCTCCATGGCAGGTGCAGCTGAAACTCCCTGCCAGGTTGGTGCAGATACCATGAGGGCCACAGGGTGCGGGGCCAGCACACTCGTCCACATCCTGCTGGCATCGTGGGCCTGGGGGTAGGGAGCAAGGTTACACCTAGGGTTACAGGGTACAGAGCAGGGTCTCAGGGACCTGGGGCTCAGGAAGAACCTGCAGGCCGAGATGGGTGAAGGCAAAATAAGCCGTGCTGTCATTCGTGTCTGGGCATTTTGCATATGCAGTTTCAGAATGGCCGTCTCCCTGTCTCAGTAGGTGGCAAATACCTACTATGAGGTCTGCTCCTCCAGGAAGCTGTACCCTAAACCCCGCCCTAAGTCCCAGCATCTCTAGCCCCATAACTCTTCCTCTTCCAAGGGCTGACCCACACAGGCTGCATATCAGTGTCCAGCTCTGTCCTTCCAAGAAGGAAGCCCCTCTCAAAGGCAGGGCTGGGGATGGGTCCCTCTCTGGATCCCCAGCATCATCCCTGATAGGGTAGGGGGCAGAGGAGATGGAGAGGAGGAGGGAAGAGAAGCAGGTGGCATACCTTGCCAGCCCTGGGGGCAGGAGCAGACAGGCAGCTGGCCAGGGGCAGACTCGCAGCGGCCCCCATGCTCACAGGGGTTCGGGGTGCAGGGGGAGAGGAGTTCACACTGACGTCCTGTTGGGGGTGGAAGAGAGGGAAGCAGAGATAGCCTTGAGGGACTCCCTGATCCCATCTCCCCCCACCTCCCCCAACCCCAGGGTCCCCACCTTGATACCCACCTCCCAAGCTCCTGGAGGGAAATGATTGAAAGCAAAAAAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAA
|
ATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACTGCGCCCAGCCGATTATATACATTCAATAAATTAAATTTAAATATATTAAATTTGGTCAGGCACAGTGGCAGCAGTCTGAGAGTCCAAGGCAGGAGGATGGCTTGAGGCCAGGAGTTTGAGACCAGCCTAGACAACGCAGTGAGACCCCATCTCTACAGAATTAAAATAAAAATATTAGCTAGGCATGTAGTGAGTGCCTGTAATCCTAGCTACTCAGGAGGTTAAGACAGGAGGAATGCCTCAGCCCAGGAGTTCGAGACTGCACTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCCTCACTCTGAATACATAATAAATAAATAAATATAAAATATTAAATTTAATATCTCCCATTTCTGTTTATTTTTTAATGTGGCTACTAGAAAATTTAAAATTGCATATGTGGCTTGTGTTATTTATCTGTTTGGCAGCACCCCTTTTTGTTTGTTTGTTTGTTTGTTTGTTCGTTTTTGAGACGGAGTTATGCCTTGTTGCCCAGGCTGCAGTACAATGACACAATCTCAGCTCACCGTAATCTCCACCTCCAAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCTGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCTCGCCCGGCCTCTGGGGGGCCTTTTATCTCATACTTTGCACATGATATTAACTCGATTGCTCTCAAAGACAGTGCACTTAGGTCGGGTGTGGTTGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTGGAGACAGGTAGATTGCTTGAGCCCAGGAATTGGAGACCACCGTGGGCAACATGGCGAAACTCCGTCTCTACAAAAAACACAAAATATTAGCTGGGCGCTGTGGTGTGCGCCTATAGTCGCAGCCACTGGGGAGGCTGAGGTGCTTGAGCCCAGAAGGCAGAGGTTGCAGTGAGCGATGATTGCAACACTGCACTCCAGCGACAGAGCTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGCAGCACACAGACTCCAAGGTTCTAAGCCCAGCTCATTCCCTAACTCGTTCCATGGGCTTGCACAAGAAGTCACTCAACCTCCTCGGGCCTCAGTTTCCATATAAATAAAACGGGAAAAGTAAGATAACTGTGAAGATGAAATGACAGCACAGTGCCAGGCACACAGTTCAAGCTTAATGACTGTGTTCCCCAGAGCAGCACCCCCAAGAGCTCCCCTGCACTCACTGGGGTCACAGTCATTGATGTCCTGATCGCAGGAAGGGCCAGTGTACCCTCCATGGCAGGTGCAGCTGAAACTCCCTGCCAGGTTGGTGCAGATACCATGAGGGCCACAGGGTGCGGGGCCAGCACACTCGTCCACATCCTGCTGGCATCGTGGGCCTGGGGGTAGGGAGCAAGGTTACACCTAGGGTTACAGGGTACAGAGCAGGGTCTCAGGGACCTGGGGCTCAGGAAGAACCTGCAGGCCGAGATGGGTGAAGGCAAAATAAGCCGTGCTGTCATTCGTGTCTGGGCATTTTGCATATGCAGTTTCAGAATGGCCGTCTCCCTGTCTCAGTAGGTGGCAAATACCTACTATGAGGTCTGCTCCTCCAGGAAGCTGTACCCTAAACCCCGCCCTAAGTCCCAGCATCTCTAGCCCCATAACTCTTCCTCTTCCAAGGGCTGACCCACACAGGCTGCATATCAGTGTCCAGCTCTGTCCTTCCAAGAAGGAAGCCCCTCTCAAAGGCAGGGCTGGGGATGGGTCCCTCTCTGGATCCCCAGCATCATCCCTGATAGGGTAGGGGGCAGAGGAGATGGAGAGGAGGAGGGAAGAGAAAGCAGGTGGCATACCTTGCCAGCCCTGGGGGCAGGAGCAGACAGGCAGCTGGCCAGGGGCAGACTCGCAGCGGCCCCCATGCTCACAGGGGTTCGGGGTGCAGGGGGAGAGGAGTTCACACTGACGTCCTGTTGGGGGTGGAAGAGAGGGAAGCAGAGATAGCCTTGAGGGACTCCCTGATCCCATCTCCCCCCACCTCCCCCAACCCCAGGGTCCCCACCTTGATACCCACCTCCCAAGCTCCTGGAGGGAAATGATTGAAAGCAAAAAAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCA
|
benign
| 300,616 |
A genetic variant at chromosome 19, position 15192487, affecting gene NOTCH3 (notch receptor 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic
|
TCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCCTCACTAAAAACCATCCATGGCTCCCTGCAGAGAAAACGGCCACTCACCAGTCTTGCCCATGGGGCAGGCACAGTAGAAAGAAGCCACGCGGTCATGGCAGGTGGCCCCATGGAAGCACACGGCTGTGGCACAGTCATCGATATTCTGACTGCAGCTCTCGCCTGTCCAGCCATTGACACACACGCAGCTGTGGCCACCCAGCGTGTTGAAGCAGGTACCCCCATTGTGGCAGGCGTTGGGCTGCAGCTGACACTCATCCACGTCCTCCGTGCAGAACTGGCCTGTGGCACACAGATGCAGCAGTCCAGCCACCTGGCGCATGTCCACCCGAGGCCTGCCTCCCCGCTCCCTCTGGCCGCAGTGCCCACCTGTCCACTCAGGAGGGCACTGGCAGTTATAGGTGTTGACGCCATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGTCCACGTTCACTTCACAATTCTGACCCTCAAACCCTAGCAGGGAAGGGGGCAAGGATGGTCACCGCCGGGCTGGCCTGCTGTCCCCACGCCCACCCCTCTGACTCTCCTGAGTAGGGCTCACTCACCAGGAAGACAGGCACAGTCGTAAGTGAGGTCGCCACTCTGCCTGCAGGTGCCCCCGTTACGGCATGGTGAGGGTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCACCATGGCGGCAGGGCTCACCCACCCGGCACTCATCCACGTCGCTTCGGCAGCTGCGGCCCTGGTAGCCAGGTGGGCAGGAGCAGAGGAAGCGTCCATCGGGCCCCACTGAGCAGCGGGCACCGTGGGCACAAGGGCTGCTGAGGCAGGGATCTGGCAGGGAGCAGTCAGGGCCTGGAGGGACCAGGACAGGGTGAGTTTAGGACTGACCACACCCCCGACTACCTCCCCTCCAGACTCTTCCCCTCTCACCTCGGAAGCCACGGGGGCACCGGCATGAGAATCGGGCGGTGCCAGCCACCACTGAACTCTGGCAGACACCACGGCCAGCACAGGGGCCTGAGTGACAGGGGTCCTCCAGCTGACACCGCTCACCCACCCAGCCAGGCGGGCACCTGTGGGCAGAGATGGCTTGGTTGGGCAGCACAGGGCAGGATGGCCCCAGACACAAAGATACACACAAGACAGGCAAGAAACACGCAGGGAAACAGAGCAGCAAACACACATTTGCTGGGAGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGCGGCGGGCAGATCACTTGGGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGTAACCCCGTCTCTACTAAAAGTACGAAACTTTGCTGGGCATAGTGGTGCGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTGCAGCCTGGGTGACAGAGTAAGACTCGGTCTCAAAGAAACAAAACAAAACAAAACACACATTCATTCATGCAACGAATATTTACTGAGTACCTACTACGTTCTGAGCAATACAAATACAGCAACAAACACAATGAAAGGGGTCCCTATCCCTCTGGATCCTTGCAGCCAGGTCCAGGCAAGGAGAACATATACGAATAACAAATTAATATACAACATGCTGGCAGGGGGCGGTGAAAGCCATCAGAACCATGAAGGATGTAGTCAGTTGGGTCACAGCCCCTGAAAAGATGACATCCATGTCCCAGAACCTGTGACTAGGACCTTACTTTTTTTTTAAATGGCTCTTTGCAGATGTAATTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTCACCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGGGTTCAAGCAATTCTTTGTCTCAGCCTCCTGCGTAGCTGGGAGTACAGGCACACGCCACCAGGCCTGGCTATGCAGATGTAATTAAATGAGAGATGTCAAGATGAGATTATTCTGAATTATCCACCTGGGCCCTAAATTCAGTGACAAGTGTTCATACAAGAGAACGGCTCACAACTGTAATCCCAACACTTTGGGAGGTCAAGACAGGATAATCACTTCAAGCCAGAAGTTCAAGATCAGCTTGAGCAACATAGGGAGACTTTTTTTCCACAAAAAAAAATTAAAAATTATAACCGGGCATGGTGGCAGGAGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAAATTGCACCACTGCACTCCAGCCTGGTTGACAGAGGGAGACTCCATCTCAAAAAAAAACAAAAAACAAAAAAAACAAACAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGACTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCGCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACTCGTGTAGTCCCCGCTACTCAGGAGGCTGAGACAGAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGAGAGACTCCACCTAAAAAATAAAAATAAAAGATTAGCTGGCCGTGGTGGCTCACACCTGTAGTCCCAGCTTCTTGGGAGGCTGAGGTGGGAGGATCGCTTCAGCCTGGGAGTTGAAGGCTGCAGTGAACTAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAGAGAGAGGCAGCCAAAAGGAGATTTGGGTGGGAGAAGGAAGAGAAGAAGACAGAGACAGGGACTGGAGTGAGACAGCCACTAGCTGAGAAACGTCTGGAGCCACCAGAAGCTGCAAGAGTCAGTTCTCCCCTGGGTCCCCATGGAGAGGCTCAGCCCTGCCGATATCTTGATTTCAGACTTCCAACCTCCAGAACTTCAAGAGAATAAATTACTATTGTTCAAGCTACCCAGTTTATGGTAATTTGTTAGAGCAGCCGTAGGAAGCTAAACCACAGGGT
|
TCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCCTCACTAAAAACCATCCATGGCTCCCTGCAGAGAAAACGGCCACTCACCAGTCTTGCCCATGGGGCAGGCACAGTAGAAAGAAGCCACGCGGTCATGGCAGGTGGCCCCATGGAAGCACACGGCTGTGGCACAGTCATCGATATTCTGACTGCAGCTCTCGCCTGTCCAGCCATTGACACACACGCAGCTGTGGCCACCCAGCGTGTTGAAGCAGGTACCCCCATTGTGGCAGGCGTTGGGCTGCAGCTGACACTCATCCACGTCCTCCGTGCAGAACTGGCCTGTGGCACACAGATGCAGCAGTCCAGCCACCTGGCGCATGTCCACCCGAGGCCTGCCTCCCCGCTCCCTCTGGCCGCAGTGCCCACCTGTCCACTCAGGAGGGCACTGGCAGTTATAGGTGTTGACGCCATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGTCCACGTTCACTTCACAATTCTGACCCTCAAACCCTAGCAGGGAAGGGGGCAAGGATGGTCACCGCCGGGCTGGCCTGCTGTCCCCACGCCCACCCCTCTGACTCTCCTGAGTAGGGCTCACTCACCAGGAAGACAGGCACAGTCGTAAGTGAGGTCGCCACTCTGCCTGCAGGTGCCCCCGTTACGGCATGGTGAGGGTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCACCATGGCGGCAGGGCTCACCCACCCGGCACTCATCCACGTCGCTTCGGCAGCTGCGGCCCTGGTAGCCAGGTGGGCAGGAGCAGAGGAAGCGTCCATCGGGCCCCACTGAGCAGCGGGCACCGTGGGCACAAGGGCTGCTGAGGCAGGGATCTGGCAGGGAGCAGTCAGGGCCTGGAGGGACCAGGACAGGGTGAGTTTAGGACTGACCACACCCCCGACTACCTCCCCTCCAGACTCTTCCCCTCTCACCTCGGAAGCCACGGGGGCACCGGCATGAGAATCGGGCGGTGCCAGCCACCACTGAACTCTGGCAGACACCACGGCCAGCACAGGGGCCTGAGTGACAGGGGTCCTCCAGCTGACACCGCTCACCCACCCGACACCGCTCACCCACCCAGCCAGGCGGGCACCTGTGGGCAGAGATGGCTTGGTTGGGCAGCACAGGGCAGGATGGCCCCAGACACAAAGATACACACAAGACAGGCAAGAAACACGCAGGGAAACAGAGCAGCAAACACACATTTGCTGGGAGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGCGGCGGGCAGATCACTTGGGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGTAACCCCGTCTCTACTAAAAGTACGAAACTTTGCTGGGCATAGTGGTGCGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTGCAGCCTGGGTGACAGAGTAAGACTCGGTCTCAAAGAAACAAAACAAAACAAAACACACATTCATTCATGCAACGAATATTTACTGAGTACCTACTACGTTCTGAGCAATACAAATACAGCAACAAACACAATGAAAGGGGTCCCTATCCCTCTGGATCCTTGCAGCCAGGTCCAGGCAAGGAGAACATATACGAATAACAAATTAATATACAACATGCTGGCAGGGGGCGGTGAAAGCCATCAGAACCATGAAGGATGTAGTCAGTTGGGTCACAGCCCCTGAAAAGATGACATCCATGTCCCAGAACCTGTGACTAGGACCTTACTTTTTTTTTAAATGGCTCTTTGCAGATGTAATTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTCACCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGGGTTCAAGCAATTCTTTGTCTCAGCCTCCTGCGTAGCTGGGAGTACAGGCACACGCCACCAGGCCTGGCTATGCAGATGTAATTAAATGAGAGATGTCAAGATGAGATTATTCTGAATTATCCACCTGGGCCCTAAATTCAGTGACAAGTGTTCATACAAGAGAACGGCTCACAACTGTAATCCCAACACTTTGGGAGGTCAAGACAGGATAATCACTTCAAGCCAGAAGTTCAAGATCAGCTTGAGCAACATAGGGAGACTTTTTTTCCACAAAAAAAAATTAAAAATTATAACCGGGCATGGTGGCAGGAGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAAATTGCACCACTGCACTCCAGCCTGGTTGACAGAGGGAGACTCCATCTCAAAAAAAAACAAAAAACAAAAAAAACAAACAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGACTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTCGTCGCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACTCGTGTAGTCCCCGCTACTCAGGAGGCTGAGACAGAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGAGAGACTCCACCTAAAAAATAAAAATAAAAGATTAGCTGGCCGTGGTGGCTCACACCTGTAGTCCCAGCTTCTTGGGAGGCTGAGGTGGGAGGATCGCTTCAGCCTGGGAGTTGAAGGCTGCAGTGAACTAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAGAGAGAGGCAGCCAAAAGGAGATTTGGGTGGGAGAAGGAAGAGAAGAAGACAGAGACAGGGACTGGAGTGAGACAGCCACTAGCTGAGAAACGTCTGGAGCCACCAGAAGCTGCAAGAGTCAGTTCTCCCCTGGGTCCCCATGGAGAGGCTCAGCCCTGCCGATATCTTGATTTCAGACTTCCAACCTCCAGAACTTCAAGAGAATAAATTACTATTGTTCAAGCTACCCAGTTTATGGTAATTTGTTAGAGCAGCCGTAG
|
pathogenic
| 300,756 |
Variant on chromosome 19, at position 15239764, affecting BRD4 (bromodomain containing 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CAGGACAGTCGCCTCGCTCCGGATGCCATGGACACACACACCTCCACGGCACTATTCCCTTTTGCACAAGCAAACACTTACAGAGAGCGGCTCTCAATTAAAGGCTTGTGGGGGAGGGTCGGGGGGTCTGTTCAAGGCAAAGTCAGTGCCAGCGAGGGGGTGGGCCGGCCTCGCCCGCCTCCAGCCCACGCAGGCCTGCCCTGGCCTCCTGGGAGCGGGCGGCGATGGCTGGGGTGTGGGGAAAGACTCCCGGCGGGCAGGACATCACGAACGTCACGTTCTTGGGGACAGAAAACCAGTCACGGCGGCAGCAACGATGTCCTGTGTATACTGTGTAGACATTTGGCGGAGAGAAGGGCCTCTGCCCCGCATGTGGGGATGCAGGGCTTGGGTCCAGCCGGCACTTGCTCGTAACAAGGCGTGTGCTGAGCGGACGTCCTGTGAGGGGTGGTGGGTGGCGGGACGTCTGTCCGACTGGCCGTAAGGCAGACAGGCTCTGCAATCCTCAGCTGCCCGTCAGGCCTGCCCCGGGCATAGCATGCAGGAGGGCCAGGCCCTGAGGCATCCCCTGGCCGCTGATCCCACCTCCACCACCGCCCCTAACACTATGGAAAGTCAATGTTTTGCCAGAAAATCAAAGTCAGAAGCCACCTAGGTGCGCTCAGAAAAGATTTTCTTCAAATATTGACAATAGATCACTCTGGAAATTCATGTCAATGGTAGCTGCCATCTGGAGGAGAAAGGAAGGAGGGAGTCAGGAGGATGACCTAGCCACCCTGCAGCTACAAGCCCTCATACCCGCTACCAGCAGTCAGCCCCGTAGCCCTCCCCGTGGCTGACCCCTCATAGCGCTCACCCCGTCCACACAGCACTCAGGGCCCTACAGCTGAGTCCAGAGGACCACATGCCGACCAGCAGGGACGGGGCTCCCCCGCTGCCCCTCCCTGTCCAGGCTCCAGTCCCCCTTTCCCAGCTCCCTCAGGAGCTAATCCTTAGACCAGGGTCCCCACCAGGCCTCCAGACTCACGGCTTCCCGGCGTCTTCGCTCCTGCTCCCGCTTCCGGGCCAACTCCCTCTGCTGGTCCAGCATGGACTGGGGCTGGGAGCTCTGGGCCTGTGGGGTGGCGGCGGCAGCCACCGCAGCTGCTTGCTGTTGCTGCTGCTGCTGTTGCTCCTGGCGCTGCTGCTGCTGCTGCTCCTGGCGCCGACGTGCCTCCTCATGGGCCCGCCGGGCCTGCTCCAGCGCATCCTCGTCCTCTCGGCTCCTGGGCAGAGGGTCCCAGTCAGCCTGGGGACTGGTGTGGCCCCAAGAGTCCCCATGCCCCACCCAGACACCCGCCCACCTCATGCGCTCCTGCCGCAGCCGCTCCTTCTCCTTCTCAGCGTGCTCGGCCTGAGCCTTCAGGGCCTTCTCACGCTCCTCTTTCTCCCGAGCGGCGCGGCGGAACTGCTCGAAGCTGTCGCTGGATGACTTGGCTGTGGAGGAGGGGGTGGTCGGATGCTTCTGCACTAGGCTGGCCCAGGAGCCCATGTTCTTGATTTTCAGGTCCTGCAGAACAGAGAGGTTGGGGTGGGTGAGGGGTCTGCTGTGCCTAAAGGGCATAGCTGGGGGTGTGCCCAGCATGGCACCTTCCAGGGCCAAGGGGCAAGCGACACCCATGGACCTCCATCCCAACCTTTTTGGGCGCAACTGGAGTCTTCGGCTCCTGTTTCTGTTTGTCCTTGTCAGGGGCCCCTGGTGGCGGTGCGTTCTGCTCTGGGGGCCGGATCACAGGCCTCCCGACATCCACAGGCTTCATTTCCGGCCCTGGAACATAAACAGCCGGTGGGCCCTGGCCCACCTCACCCCAGTGGGGCATGGTCCACCAGCCCCACAGCAAGCTTATGTCCAACACGGGCCTCGGGGGGCCTGAGCCCTGGCTGTGGGCAGGGAGAGCACTCACGCTGGGGCAGGTGGACGGGGGCCTTGATGCTCTCCGGGTGCTTGGGGGGCTCCGGCCGCAGCGAGGGGCTGAAGGGCTCGCTGCGGATGATGGGTGAGTGGATCTTCTCCTCCTTCACCACCACGAGGGGCTGGGGCTGGACCACGGAGGCAGCACGCAGCTCCTGGGATGGCACAGGCACAGCGGCCGGTGAGGTGGGCAGGCACCCCCGGCCCTAGCCCACAGGACTATGGCCCAGCCCTGCCAGTTACCTGTTTCTTAGGCTGGACGTTTTGCTGGGGTGGAGACTGGTGGGTCAGGCTCTGGAACTGTGACATCTGGGGGGAATGTATCATAAGCGGGGAGGGGGCTTCGCGGAGGTGACCTAGGAGAAGGGACAAGGAATGTGTCAAGGGGCTGGCTTAGAACTGCTGGCCCTGAGAGAATTGTCGGGAAGGAAAACGTGGGCTGTATGGAGAAACTGCATGTGCCGCCCAGGCCCTGGGACAAGGGTCCATTAGCCCAGCTCAAAAAGGGTGAAGACCCACACAAGTGACTGGGCCTGGTGAGGACATGACCCCTCCCCGAAAGGGCTGAGTGCCCTGTGTCCCCCTGCATGTGGGGCATAACTCAGTGTGCAGCAGAGCTTTCTAGGGCCCTGTGGCACCAGTCCTGGTGTTTGACCCTCCTGTGTGCATCAGAATCATCTGGGATACTGTGGAAAACACAGATCCTGACACATGTGGGCTTGGCAGGGCCTGGGCCCTAATACTTTTTAAACCCACAAAGCTCAGCCTGGGTTCCTGCCAACTAGCCTGGCCCACCTGGATGATTGCAGGGGGTGCAAGACCCAGTCCTGGGGGTGGGGATGCTCAGGACCCTCCCCACAGTCCTATTCCCCACTCAGCCTGCACGCCCCCACGGAAGAGAGAAGCCTGGAATTGGCCTCCACCTGCGCCGAGTGGGGAGCAGGCGGAAAAGGGCCTGGAGCTGTCTCTTAGGAAACAGGCCAGCCTGACACCTGCATCCAACCCAAGGCTGGGAAGGATCCAGCAGCCACAGGGACTACTGGGCCCTCAATCACAGTGAGCCAGCACCTCGGGACTGTGCAGCTGGAGCAGCTGAGTCCTACCCATCCAACATGTGGCCTCTCTCTGCTGGAATCCCTGCAGGCAAGGGGCCTCACCGCTCTTTGGCTAGCTGCAGCTCGGGACAAGCCACACTGTCCACAGAGGAGGCTGCCCCTCTGCAACGCTTTTGCTCCCAGCCTAGCCTCATGCCCATCTCCTTCCACTGTCTGTCAGCACAGGCACCCTTGGGTTCTCCAGGAGCCCTGCTGGCTGGAGGCATCTATTTTCATAGGCCTGGAGCAAACCACAATGCCCCAGGTGTGGTAGATCCTCTCTAGAGCCAGGACCCACTCCTAACGCCAGAAGACACTGCAGCTGCTTGGAGCCCACATGGTGGCCAGGCCCATCCTGTCCCCGCAGCCCACTGCTGTGTGTGGCTGGTTTTCCTGGCGTTGACATCTCCTCCAATTCTAGCACATCGGGACCACTTTGGGCACTGCCAATTCCATTCAGTGCTGGAGGGCCCCAGGTCTGGCCTGCCAGGGATCCACAGGCACATGACTGCAACAGCCTCCCACCCAACTAGGGCAGTGCCTTCAGCACCTGCTGAGGCTGACCTGGGCAACGGTAGGCTCCAGGGGCTGTGGTTTATAGAAACCACCTGCCTGCTGGTGGGTTCAGAGGATGGCTCACGGATGACTCCTGAAAGCTGGCTGGGGGCCCAGGGATGCCTGTTAAGTCTCTTTGGGAGTCTAACAACTTGGCTTTTGGCCTACAAAGCCCCTAGCAGGATCCCAATCCACACTGCTCTTGATGCCCCATCCTAGCCTGCTGGGGCTTGGGTCACGGCCAGGGACCTGAAGTAGAGCTGGCTGGAGAAGACCTGCCTCAGCCCCGATAGGTGCCTGGTGCACCCGAGTGCTGGCTCTTCTAAATGCCTTGCATCCCCTGTCTATCACCCCCAACAGGAGTCCAGCCCTGCTTCGCATGAGAACAGGCACAGCCGCACAGCTGCCAGGCCCAACACCAGTATTTCCCAGGGAGGACAGGCAGCTTGTTCTTGGCTCAGGGCATGCAGAGATCCACTTGGCACCTGACTTTTTT
|
CAGGACAGTCGCCTCGCTCCGGATGCCATGGACACACACACCTCCACGGCACTATTCCCTTTTGCACAAGCAAACACTTACAGAGAGCGGCTCTCAATTAAAGGCTTGTGGGGGAGGGTCGGGGGGTCTGTTCAAGGCAAAGTCAGTGCCAGCGAGGGGGTGGGCCGGCCTCGCCCGCCTCCAGCCCACGCAGGCCTGCCCTGGCCTCCTGGGAGCGGGCGGCGATGGCTGGGGTGTGGGGAAAGACTCCCGGCGGGCAGGACATCACGAACGTCACGTTCTTGGGGACAGAAAACCAGTCACGGCGGCAGCAACGATGTCCTGTGTATACTGTGTAGACATTTGGCGGAGAGAAGGGCCTCTGCCCCGCATGTGGGGATGCAGGGCTTGGGTCCAGCCGGCACTTGCTCGTAACAAGGCGTGTGCTGAGCGGACGTCCTGTGAGGGGTGGTGGGTGGCGGGACGTCTGTCCGACTGGCCGTAAGGCAGACAGGCTCTGCAATCCTCAGCTGCCCGTCAGGCCTGCCCCGGGCATAGCATGCAGGAGGGCCAGGCCCTGAGGCATCCCCTGGCCGCTGATCCCACCTCCACCACCGCCCCTAACACTATGGAAAGTCAATGTTTTGCCAGAAAATCAAAGTCAGAAGCCACCTAGGTGCGCTCAGAAAAGATTTTCTTCAAATATTGACAATAGATCACTCTGGAAATTCATGTCAATGGTAGCTGCCATCTGGAGGAGAAAGGAAGGAGGGAGTCAGGAGGATGACCTAGCCACCCTGCAGCTACAAGCCCTCATACCCGCTACCAGCAGTCAGCCCCGTAGCCCTCCCCGTGGCTGACCCCTCATAGCGCTCACCCCGTCCACACAGCACTCAGGGCCCTACAGCTGAGTCCAGAGGACCACATGCCGACCAGCAGGGACGGGGCTCCCCCGCTGCCCCTCCCTGTCCAGGCTCCAGTCCCCCTTTCCCAGCTCCCTCAGGAGCTAATCCTTAGACCAGGGTCCCCACCAGGCCTCCAGACTCACGGCTTCCCGGCGTCTTCGCTCCTGCTCCCGCTTCCGGGCCAACTCCCTCTGCTGGTCCAGCATGGACTGGGGCTGGGAGCTCTGGGCCTGTGGGGTGGCGGCGGCAGCCACCGCAGCTGCTTGCTGTTGCTGCTGCTGCTGTTGCTCCTGGCGCTGCTGCTGCTGCTGCTCCTGGCGCCGACGTGCCTCCTCATGGGCCCGCCGGGCCTGCTCCAGCGCATCCTCGTCCTCTCGGCTCCTGGGCAGAGGGTCCCAGTCAGCCTGGGGACTGGTGTGGCCCCAAGAGTCCCCATGCCCCACCCAGACACCCGCCCACCTCATGCGCTCCTGCCGCAGCCGCTCCTTCTCCTTCTCAGCGTGCTCGGCCTGAGCCTTCAGGGCCTTCTCACGCTCCTCTTTCTCCCGAGCGGCGCGGCGGAACTGCTCGAAGCTGTCGCTGGATGACTTGGCTGTGGAGGAGGGGGTGGTCGGATGCTTCTGCACTAGGCTGGCCCAGGAGCCCATGTTCTTGATTTTCAGGTCCTGCAGAACAGAGAGGTTGGGGTGGGTGAGGGGTCTGCTGTGCCTAAAGGGCATAGCTGGGGGTGTGCCCAGCATGGCACCTTCCAGGGCCAAGGGGCAAGCGACACCCATGGACCTCCATCCCAACCTTTTTGGGCGCAACTGGAGTCTTCGGCTCCTGTTTCTGTTTGTCCTTGTCAGGGGCCCCTGGTGGCGGTGCGTTCTGCTCTGGGGGCCGGATCACAGGCCTCCCGACATCCACAGGCTTCATTTCCGGCCCTGGAACATAAACAGCCGGTGGGCCCTGGCCCACCTCACCCCAGTGGGGCATGGTCCACCAGCCCCACAGCAAGCTTATGTCCAACACGGGCCTCGGGGGGCCTGAGCCCTGGCTGTGGGCAGGGAGAGCACTCACGCTGGGGCAGGTGGACGGGGGCCTTGATGCTCTCCGGGTGCTTGGGGGGCTCCGGCCGCAGCGAGGGGCTGAAGGGCTCGCTGCGGATGATGGGTGAGTGGATCTTCTCCTTCACCACCACGAGGGGCTGGGGCTGGACCACGGAGGCAGCACGCAGCTCCTGGGATGGCACAGGCACAGCGGCCGGTGAGGTGGGCAGGCACCCCCGGCCCTAGCCCACAGGACTATGGCCCAGCCCTGCCAGTTACCTGTTTCTTAGGCTGGACGTTTTGCTGGGGTGGAGACTGGTGGGTCAGGCTCTGGAACTGTGACATCTGGGGGGAATGTATCATAAGCGGGGAGGGGGCTTCGCGGAGGTGACCTAGGAGAAGGGACAAGGAATGTGTCAAGGGGCTGGCTTAGAACTGCTGGCCCTGAGAGAATTGTCGGGAAGGAAAACGTGGGCTGTATGGAGAAACTGCATGTGCCGCCCAGGCCCTGGGACAAGGGTCCATTAGCCCAGCTCAAAAAGGGTGAAGACCCACACAAGTGACTGGGCCTGGTGAGGACATGACCCCTCCCCGAAAGGGCTGAGTGCCCTGTGTCCCCCTGCATGTGGGGCATAACTCAGTGTGCAGCAGAGCTTTCTAGGGCCCTGTGGCACCAGTCCTGGTGTTTGACCCTCCTGTGTGCATCAGAATCATCTGGGATACTGTGGAAAACACAGATCCTGACACATGTGGGCTTGGCAGGGCCTGGGCCCTAATACTTTTTAAACCCACAAAGCTCAGCCTGGGTTCCTGCCAACTAGCCTGGCCCACCTGGATGATTGCAGGGGGTGCAAGACCCAGTCCTGGGGGTGGGGATGCTCAGGACCCTCCCCACAGTCCTATTCCCCACTCAGCCTGCACGCCCCCACGGAAGAGAGAAGCCTGGAATTGGCCTCCACCTGCGCCGAGTGGGGAGCAGGCGGAAAAGGGCCTGGAGCTGTCTCTTAGGAAACAGGCCAGCCTGACACCTGCATCCAACCCAAGGCTGGGAAGGATCCAGCAGCCACAGGGACTACTGGGCCCTCAATCACAGTGAGCCAGCACCTCGGGACTGTGCAGCTGGAGCAGCTGAGTCCTACCCATCCAACATGTGGCCTCTCTCTGCTGGAATCCCTGCAGGCAAGGGGCCTCACCGCTCTTTGGCTAGCTGCAGCTCGGGACAAGCCACACTGTCCACAGAGGAGGCTGCCCCTCTGCAACGCTTTTGCTCCCAGCCTAGCCTCATGCCCATCTCCTTCCACTGTCTGTCAGCACAGGCACCCTTGGGTTCTCCAGGAGCCCTGCTGGCTGGAGGCATCTATTTTCATAGGCCTGGAGCAAACCACAATGCCCCAGGTGTGGTAGATCCTCTCTAGAGCCAGGACCCACTCCTAACGCCAGAAGACACTGCAGCTGCTTGGAGCCCACATGGTGGCCAGGCCCATCCTGTCCCCGCAGCCCACTGCTGTGTGTGGCTGGTTTTCCTGGCGTTGACATCTCCTCCAATTCTAGCACATCGGGACCACTTTGGGCACTGCCAATTCCATTCAGTGCTGGAGGGCCCCAGGTCTGGCCTGCCAGGGATCCACAGGCACATGACTGCAACAGCCTCCCACCCAACTAGGGCAGTGCCTTCAGCACCTGCTGAGGCTGACCTGGGCAACGGTAGGCTCCAGGGGCTGTGGTTTATAGAAACCACCTGCCTGCTGGTGGGTTCAGAGGATGGCTCACGGATGACTCCTGAAAGCTGGCTGGGGGCCCAGGGATGCCTGTTAAGTCTCTTTGGGAGTCTAACAACTTGGCTTTTGGCCTACAAAGCCCCTAGCAGGATCCCAATCCACACTGCTCTTGATGCCCCATCCTAGCCTGCTGGGGCTTGGGTCACGGCCAGGGACCTGAAGTAGAGCTGGCTGGAGAAGACCTGCCTCAGCCCCGATAGGTGCCTGGTGCACCCGAGTGCTGGCTCTTCTAAATGCCTTGCATCCCCTGTCTATCACCCCCAACAGGAGTCCAGCCCTGCTTCGCATGAGAACAGGCACAGCCGCACAGCTGCCAGGCCCAACACCAGTATTTCCCAGGGAGGACAGGCAGCTTGTTCTTGGCTCAGGGCATGCAGAGATCCACTTGGCACCTGACTTTTTTNNN
|
benign
| 300,794 |
Gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22) variant at chromosome 19, position 15525394—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Autosomal_recessive_congenital_ichthyosis_5']
|
GCAAGACTCTGTCTCCAAACAAAAAACAAAAAAACTCACAACAAGATCCCATGAGAACTCACTCACTCACTATCTGGAAGACAGCGCCAAGGGGATGGTGTTAACCATTCATGAGAAACCAGCCCCGTGATCCAATCACCTTCCACTAGACCCCATCTCCAACACTGGGGATTCCAGTTCAACATGAGGTTTGGGTGGGGACACAGATCCAAACCATATCAGATTCTCTGAGATGAGGCTGGTACTGCCCGGAGCATGGTGGTGCACGGCAGATGACAAGCCCTTCCTGCCTGCTCACTGTTTTATTAACATTATGGTTACCTGACTGCTTTGTTTTGGTTCCTTAGGAGCTGGCCCTAAAGCAAGGACCTGAGTGCAAGTAATTTTTTTGGGAAGTAATAACAGAAAATACCAGCAAGGAAGAAGACAGTGAACCCAAAAGAATTGAAAACAGGTACTCAGATAAATACATGTACACACATGTTCAGAGTAGCATATTTCATAATAGCCAAAATGTAGAAACAGCCCAAATGTCTGTCCACAGATGAATGAATAAAGAAAATGTGGGGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACCCAGGAGGCTGAGACAGGAGGATCACATGAGGCTGGGAGGTCAAGGCTGGAGCGAGTCGTGATCATGCCACTGCACTCCAGCCTGAGTGACAGAACCAGACCCTGTCTCAAAAGAAAAAAAAAAAAAAGGAAATGTGGAATATCCATACAATGGAATATTACTCAGCAGTACAAGGAATTAAGCTCTGATTGATGCTACAATGTGGATGAACCTCAAAAACAGGATGCCGAGTGAAGGAAGCCAGACACAAAAGGCTGCATAGCATTTAATAGATTTATATGAAATATCCAGAATACTTAAATCCATAGAGACAGAAAGCAGATTAGTGGTGCCAGGGGCTCCAGGGAGGGAGAATGGGAAGTGGCTACTAACAGGGATGGGGTTTTGTTTTGGCATAATGAAAATGTTCTGAAACTAGCTGGGTGAGGTAGCTCATGCGTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAATCCTGTCTCTACAAAAAAATACAAAAATTAGCTGGGCCTGGTGGCATGCACCTGTAGTCCCAGCTACTTGGGAAACTGAGGTGGGAGGATTGCTTGAGCTGGGGAGGTTAAAGCTGCAGTGAGCCGTGATCATGCCACTGCACTCCAGCTGGGTGACAGAGGAGACCTTCTTTCAAAAAGAAAGAAAGAAAGAAGGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAGTCCTGAAACTAGATGGAGGTGGTAGTTGCATTATATGTAAATGTACTCAATGCCACTGAATTATTCCCTTTAAAATAATTAATTTTGTGTTATGCGAATCTCATCTCAACTGAAAAAGAAGAAAAAGAAAAAGAAAGAGGGGGAAAGGACGTGGCCAATAGGGAGTTTCCACTGTGGGCAGCTGGAGTTTAATCTCATTGGGGAAGCCTAGAGTGAGTGTGGAACCTATATCTCAGGGTCATTGCACCCAAGGGGTGAGGGAGCTGGGGTATTTATCCACCAATGAGCCTCAGTCATTGGTTGAGAGCTGCTCCTTTGGGAGGGGTGTCTTGGTTTCCCAGCCTGACCGGCTATGCCTGGGCAGAGAATGCCCTATGGTAGAGAAGTCAAGAGGGTGGCCTTGTAAAAGTCAAGGCTGAGAGCATACGAGCAGGGCCCCGAGTGCATCCATCTGTCCAGCTGGTTGGAGATCATGGCTGGGGGATGAAGAGGTATCCTTGGTGTCTGGAACTCACGTGTGCTGGGAACCTTCTGTGCACTAGGCACACCATGCATTACCCCATGGGTCATCGTCTTGTGCATGGCACCGACCCCCTGACCCTGTGTGTCCCCAGGATGCTGCCCATCACAGACCGCCTGCTGCACCTCCTGGGGCTGGAGAAGACGGCGTTCCGCATATACGCGGTGTCCACCCTTCTCCTCTTCCTGCTCTTCTTCCTGTTCCGCCTGCTGCTGCGGTTCCTGAGGCTCTGCAGGAGCTTCTACATCACCTGCCGCCGGCTGCGCTGCTTCCCCCAGCCTCCCCGGCGCAACTGGCTGCTGGGCCACCTGGGCATGGTAAGTGTGGCCAGGCAGGACTGGGCTGGGCTGGGCTGGGCATGTGCAGGGTAATAGGTAGGGATGGTGGGCCTGCTGGCTTCCCACAGCCTCCCAAGAATCTGGTTGGGGCTAGCAGCAGATTTATATGATGGGGTATGAGGCTGAGGCTCAGAGAGGGCAAGCAGTTTACCCAAGGTCACACAGGTGGGAGGAGGCAGAACTAACTTTAAAGATGAATTATTTTGGGAGGCTGAGGTGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCTTGGGAAACATAGTGAGACCCCCTCTCTACAAAAAATTCAAAAATTATATGGGTGTGGTGGTGCACACTTGTAGTCTCAGCCACTTGGGAGGCTGAGGTAGGAGGATTACTTGAGCTTAGGAGTTCGAGACCAGCCTGGGAAACACAGTGAGACCCCATCTCTATAAGAAAAATTACAAAAATTAGCTGAGTGCAGTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGCGAGGATTGTTTGAGCCTGGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACCGCATTCTAGCCTGGGTGACCTAGGGAGACCCTGTCTCTCTAAGGAAAAAAAAAAGAACTCTCTCTATAATTTTATAGCTATCACTGTACAATAGGTACCTTTACCTTTGGAGTTTGGAATCCCAGGGCAGGGTTGGAGGAGGAGAGGGGAACACATCCTATTCCCAATGTGGTTCCACTCTTCTCCCTTGAATGCTGTGGTCCTAGGTGAGGACTCTTACCCTTTTATTGCATTGAATTTTTTTCTTTTTGAGACAGGGTCTCGCTATGTTGCCTAGGCTGATCTTGAACTCCTAAGCTCAAGCAATCCTTTGGCCTCAGCCTGCTGAGTCCTTTTTAATTTTGCAGATATGTGCCAAGTATTTTTCCAGGCAAATATTAACTCATTCAGTTCTCTTGACAATTCTAGGAAGTAGGTCCCATGACTAGCCCCATTTTGCGTGGAAGATTACTGAGGCACAGAGAGGTTAAGTAGCTGACCTTAGGTCACACAGCTTGTAAGTGGCAGAGCTGGGGTTCAAACCCAGCCTGTCAAGCTCTAGCCTCCTTGATCTCAGTTCTACCCTCTGATGCCTCTAGTTTCTGTAGTTAGTTTCTAGATGAGATAGGCTAGACTTTTCCTTTTTTTTTTTTTTTTCGAGACAGTCTTTCTCTGCTACCTAGGCTAGAGTGCAGTGGTACAATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGCGACTGCAAGCCTGCAAGTGCATGCCCCCACGCCTGGCTAATTTTTGTACTTTTAGTAGGGACAGGGTTTCACCGTGTTGGCCAGACTGATCTCAAACCCCTGACCTCAAGTGAACCACCGTGCTCAGCCTCCCTGTTTTTAGTTCTACTCTCTGATGCCTCTACTTTCTGGATGAGATAGGCTGGACTTTCCCTTTTGGACTTTTCTCCTTCATTTCTTCCATCCCTTACCCCTGCTCAGGCCTTACCCTCTACTGCTGGTCCATGGTCCAGCCCCCTCCTTGAGTTCCTACCTCCAGTTTCATCCCTTCGGTCCGTCTCCCATCCTGGCCCCAGAGGGATTCTTGGATTCAACCACATCCCTGCCCCTGCTTACACACCCTCCATGGCTCCCTATTGCCATTCAGAAAAAGGCTGGTGTTCAAGGCCCTTTTGGCTCCAACCTCCATCCTCCTCACTTGTTCCACCATCCCTCCCTAGCTCCATAGAATCACTTCCCACTCCTGTAACAAGGCTCCCACCTCCAAGGCCTTTCCCAAAACTGTACTCTCTGTCCAGGTATC
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GCAAGACTCTGTCTCCAAACAAAAAACAAAAAAACTCACAACAAGATCCCATGAGAACTCACTCACTCACTATCTGGAAGACAGCGCCAAGGGGATGGTGTTAACCATTCATGAGAAACCAGCCCCGTGATCCAATCACCTTCCACTAGACCCCATCTCCAACACTGGGGATTCCAGTTCAACATGAGGTTTGGGTGGGGACACAGATCCAAACCATATCAGATTCTCTGAGATGAGGCTGGTACTGCCCGGAGCATGGTGGTGCACGGCAGATGACAAGCCCTTCCTGCCTGCTCACTGTTTTATTAACATTATGGTTACCTGACTGCTTTGTTTTGGTTCCTTAGGAGCTGGCCCTAAAGCAAGGACCTGAGTGCAAGTAATTTTTTTGGGAAGTAATAACAGAAAATACCAGCAAGGAAGAAGACAGTGAACCCAAAAGAATTGAAAACAGGTACTCAGATAAATACATGTACACACATGTTCAGAGTAGCATATTTCATAATAGCCAAAATGTAGAAACAGCCCAAATGTCTGTCCACAGATGAATGAATAAAGAAAATGTGGGGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACCCAGGAGGCTGAGACAGGAGGATCACATGAGGCTGGGAGGTCAAGGCTGGAGCGAGTCGTGATCATGCCACTGCACTCCAGCCTGAGTGACAGAACCAGACCCTGTCTCAAAAGAAAAAAAAAAAAAAGGAAATGTGGAATATCCATACAATGGAATATTACTCAGCAGTACAAGGAATTAAGCTCTGATTGATGCTACAATGTGGATGAACCTCAAAAACAGGATGCCGAGTGAAGGAAGCCAGACACAAAAGGCTGCATAGCATTTAATAGATTTATATGAAATATCCAGAATACTTAAATCCATAGAGACAGAAAGCAGATTAGTGGTGCCAGGGGCTCCAGGGAGGGAGAATGGGAAGTGGCTACTAACAGGGATGGGGTTTTGTTTTGGCATAATGAAAATGTTCTGAAACTAGCTGGGTGAGGTAGCTCATGCGTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAATCCTGTCTCTACAAAAAAATACAAAAATTAGCTGGGCCTGGTGGCATGCACCTGTAGTCCCAGCTACTTGGGAAACTGAGGTGGGAGGATTGCTTGAGCTGGGGAGGTTAAAGCTGCAGTGAGCCGTGATCATGCCACTGCACTCCAGCTGGGTGACAGAGGAGACCTTCTTTCAAAAAGAAAGAAAGAAAGAAGGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAGTCCTGAAACTAGATGGAGGTGGTAGTTGCATTATATGTAAATGTACTCAATGCCACTGAATTATTCCCTTTAAAATAATTAATTTTGTGTTATGCGAATCTCATCTCAACTGAAAAAGAAGAAAAAGAAAAAGAAAGAGGGGGAAAGGACGTGGCCAATAGGGAGTTTCCACTGTGGGCAGCTGGAGTTTAATCTCATTGGGGAAGCCTAGAGTGAGTGTGGAACCTATATCTCAGGGTCATTGCACCCAAGGGGTGAGGGAGCTGGGGTATTTATCCACCAATGAGCCTCAGTCATTGGTTGAGAGCTGCTCCTTTGGGAGGGGTGTCTTGGTTTCCCAGCCTGACCGGCTATGCCTGGGCAGAGAATGCCCTATGGTAGAGAAGTCAAGAGGGTGGCCTTGTAAAAGTCAAGGCTGAGAGCATACGAGCAGGGCCCCGAGTGCATCCATCTGTCCAGCTGGTTGGAGATCATGGCTGGGGGATGAAGAGGTATCCTTGGTGTCTGGAACTCACGTGTGCTGGGAACCTTCTGTGCACTAGGCACACCATGCATTACCCCATGGGTCATCGTCTTGTGCATGGCACCGACCCCCTGACCCTGTGTGTCCCCAGGATGCTGCCCATCACAGACCGCCTGCTGCACCTCCTGGGGCTGGAGAAGACGGCGTTCCGGCATATACGCGGTGTCCACCCTTCTCCTCTTCCTGCTCTTCTTCCTGTTCCGCCTGCTGCTGCGGTTCCTGAGGCTCTGCAGGAGCTTCTACATCACCTGCCGCCGGCTGCGCTGCTTCCCCCAGCCTCCCCGGCGCAACTGGCTGCTGGGCCACCTGGGCATGGTAAGTGTGGCCAGGCAGGACTGGGCTGGGCTGGGCTGGGCATGTGCAGGGTAATAGGTAGGGATGGTGGGCCTGCTGGCTTCCCACAGCCTCCCAAGAATCTGGTTGGGGCTAGCAGCAGATTTATATGATGGGGTATGAGGCTGAGGCTCAGAGAGGGCAAGCAGTTTACCCAAGGTCACACAGGTGGGAGGAGGCAGAACTAACTTTAAAGATGAATTATTTTGGGAGGCTGAGGTGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCTTGGGAAACATAGTGAGACCCCCTCTCTACAAAAAATTCAAAAATTATATGGGTGTGGTGGTGCACACTTGTAGTCTCAGCCACTTGGGAGGCTGAGGTAGGAGGATTACTTGAGCTTAGGAGTTCGAGACCAGCCTGGGAAACACAGTGAGACCCCATCTCTATAAGAAAAATTACAAAAATTAGCTGAGTGCAGTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGCGAGGATTGTTTGAGCCTGGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACCGCATTCTAGCCTGGGTGACCTAGGGAGACCCTGTCTCTCTAAGGAAAAAAAAAAGAACTCTCTCTATAATTTTATAGCTATCACTGTACAATAGGTACCTTTACCTTTGGAGTTTGGAATCCCAGGGCAGGGTTGGAGGAGGAGAGGGGAACACATCCTATTCCCAATGTGGTTCCACTCTTCTCCCTTGAATGCTGTGGTCCTAGGTGAGGACTCTTACCCTTTTATTGCATTGAATTTTTTTCTTTTTGAGACAGGGTCTCGCTATGTTGCCTAGGCTGATCTTGAACTCCTAAGCTCAAGCAATCCTTTGGCCTCAGCCTGCTGAGTCCTTTTTAATTTTGCAGATATGTGCCAAGTATTTTTCCAGGCAAATATTAACTCATTCAGTTCTCTTGACAATTCTAGGAAGTAGGTCCCATGACTAGCCCCATTTTGCGTGGAAGATTACTGAGGCACAGAGAGGTTAAGTAGCTGACCTTAGGTCACACAGCTTGTAAGTGGCAGAGCTGGGGTTCAAACCCAGCCTGTCAAGCTCTAGCCTCCTTGATCTCAGTTCTACCCTCTGATGCCTCTAGTTTCTGTAGTTAGTTTCTAGATGAGATAGGCTAGACTTTTCCTTTTTTTTTTTTTTTTCGAGACAGTCTTTCTCTGCTACCTAGGCTAGAGTGCAGTGGTACAATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGCGACTGCAAGCCTGCAAGTGCATGCCCCCACGCCTGGCTAATTTTTGTACTTTTAGTAGGGACAGGGTTTCACCGTGTTGGCCAGACTGATCTCAAACCCCTGACCTCAAGTGAACCACCGTGCTCAGCCTCCCTGTTTTTAGTTCTACTCTCTGATGCCTCTACTTTCTGGATGAGATAGGCTGGACTTTCCCTTTTGGACTTTTCTCCTTCATTTCTTCCATCCCTTACCCCTGCTCAGGCCTTACCCTCTACTGCTGGTCCATGGTCCAGCCCCCTCCTTGAGTTCCTACCTCCAGTTTCATCCCTTCGGTCCGTCTCCCATCCTGGCCCCAGAGGGATTCTTGGATTCAACCACATCCCTGCCCCTGCTTACACACCCTCCATGGCTCCCTATTGCCATTCAGAAAAAGGCTGGTGTTCAAGGCCCTTTTGGCTCCAACCTCCATCCTCCTCACTTGTTCCACCATCCCTCCCTAGCTCCATAGAATCACTTCCCACTCCTGTAACAAGGCTCCCACCTCCAAGGCCTTTCCCAAAACTGTACTCTCTGTCCAGGTAT
|
pathogenic
| 300,846 |
Regarding the variant found on chromosome 19 at position 15537539 in gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Autosomal_recessive_congenital_ichthyosis_5', 'Lamellar_ichthyosis']
|
TTCCTTCCTGGGCCTCTGCCCATTCAGCCCCAAATCTGTTCAGTATATAGAAGGAGGATCCATCCATTCATCCATCCACTCATTCATTCATTCATCCATCCACCTTCCACCTATCCACTCATTCATCCATCCATCCACTCATCCATCCATCCACCATCCACCCATCCATCCATTCATCCATCCATCCATCCACCCACCCACCATCTATCCATCTGCTATTCATCCATCCACTTATTTATCCATCCATGTACTCATCTGTCCCTCTACTCATCCATCCACCCATTTATTCTTTCATTCATCCATCCTTGGATTGACTTATTTATTCATTTAATAAAAATTTATCTAGCACAACATATCAGTAATCAACACGAACCCTCCTGTTAAGGGGCTTGTAACTAAGTGGATACAATCCAGAGTGACTGCTGGGTCAGGGGTGGGGAGAAGCATTCAAGTTCTCATACAGGATGAGGGAAGAGTGTTTGGGGCAGAGAGAACAGCTGGTGGAAAGTCTCAGAGAAGAGAGAGCACGTGGTCTTTTTAAGGAGCTGAGAAAAGTTCTGTGGTGTGGCCGGGCATGGTGGCTTATGCCTGTAGTCCCAGCACTTTGGGAGGCTGAACTTGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATATGGCGATACCCTGTCCATACACAAAATTAAAAAATTAGCCAGGCATGGTGGCGTATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAATCCAGGAATTGGAGGCAGCAGTGAGCTATGATCTCACCACACACCCCAGCCTGGGTGACAGAGTGAGACCCCATCTCAAAAAAACAAAAAACAAAAAGTTATGTGGTGTTAGTTCTGTGACGTCGAATAGGGGGTGGAAGACAGAGGTGTCTTGAGAGAGATTTGGACAAAGGCAAATGATTCAGGGCTTTGAAAATGGGCTGGTATGTGAGGGTGATGGGTGTGTGAGCAGGAAGGGGCGTGGTCAGATCTGATAGTCAGATGAGATTCTCCTGGGGCCATTCATGAGGGACACACTGGAGAGGGTGAGGCTGGAGGCTGGGAGCACAGGAGGTGTGATTCAGATGGCCTGAGCTGGCAGAAAATAAGGGGGTGGATTAGGGGAAGACTCAGGTGAAGAAGTCCATTCTGGATAGACAGCTCAACCTGGTCAAAGGTTCAGAGGTGATCCACAGCAGGCGATGAGAATAGGGTTATCTGGTGTATGTTGAAGGATGAGGTGGTGGGAGAGGCATACAGGGGCCAGATGGAATTGGGTTTCAATGCCAGGCTGAGCCTGAACTTTTTACAAGTGCAATGGGGAGCCATGGGAGGTGTCTGAGCAGGGGAGGCTCATGTTCAGATCAGTGTTTTATAAGGATTTTTTCTCGGGTAGGTGTGGAGGACGGACTGGGTGAATACAGTGGGAGGTTGGAGCCCAGTGAGGAGGACTAAGGAAGTCATAAGCAAAGGTCAAGGGTTGGAACTCTGTTTTGAGGCCAGGCACGATGGCTCGTGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTGCTAAAAATACAAACAAATTAGCCGGGCATGGTGGCGGACACCTGTAATCCCAGCTACTCAGGAGGCAGAGGCAGGAAAACTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTGGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCGTAAAAAAAAACAAAAAACCAAAAAACTCTGTTTTGAGTCACCATTTTCCCTTTGCCCTCCACAGCTGCCATCGCCCCCAAGGATGACCTCTTCTATGGCTTCCTAAAACCTTGGCTAGGTGAGTGCCCAGTGGGTAGGCTGGGGCTGGGGCTTTAGAGAAGAGAGGGAAGAGCATGGGGTTCCTTGGAAGGTTTCAGAGTAACAGGAGAGGTCCCTAACCTCAGTCTTCTGGGCCCAGGGGATGGGCTGCTGCTCAGCAAAGGTGACAAGTGGAGCCGGCACCGTCGCCTGCTGACACCCGCCTTCCACTTTGACATCCTGAAGCCTTACATGAAGATCTTCAACCAGAGCGCTGACATTATGCATGTGAGTCCTAAGGCTTTGAGGGAAGAGGGTGTCTTGGGAGTGAGGCTGGTCCAGGCTCCAACTCATGCATGGGCAAGCCATGTGATGTCAGGAGCCCTCACTGACTTTATCTATAAAATGAGCTTGTAGTGAAAACGCAGTCGGGTCCTTGTTAGGCTGACTCCCTCTCTGTGGTTTCCATGCACAGTCACCATGTATCTCTCTTCCAGGCTAAATGGCGGCATCTGGCAGAGGGCTCAGCGGTCTCCCTTGATATGTTTGAGCATATCAGCCTCATGACCCTGGACAGTCTTCAGAAATGTGTCTTCAGCTACAACAGCAACTGCCAAGAGTGAGTGTGACCCTTCTTGGGAAGATGGAGCCAGCTGCTCTAGGAGCAAGATGGTGGCAGGAGAAAGGGAACTCCCAGGCATTAGACAACTCTGGCCTATGGGAGCTCTGCCACGGATGGGCCATGTGCTTCCGGGAAACTGACCATCTCTCTGAGCTTCACTTTTTTTTTTAATCAAAAAAATGGGCATCATAATTCCTTCCCCATAGTCATTGTGTGAGAATTAAATGAGATAATGTGAATCAATGGCTTGGTATAAAGTAGGTGCTTAGTAAATGTTAGTATTTTTTCATTCCACTAGGAAGAGTATGTGGTCTTTGGACAGTGTCCTCCCCACTTTCTGAGGCTCAGTTTCCTTGTTTGTAAAAAAAGGATGACAATCTCTTACTTTCTGAGAGATGCTTTAAGGATAAAATGATGCAGCACTGCCCTGGCACATAGTTGATGCTCAGAGAATATTTGTTGAGTAAATGAATCAAATAACCAATGCCTTGCTTCATTAATTCATTCATTCATCAAATATTCATTGTGCACCTACTACGTGCCTGGCACCATGATATTGCTGCTGAGAACAGGGTGGTGAACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAGCCCACTTCAGGACTGAGGACAGCTCCCTTCAAGCCTGCTTCACCTGTTAGTTTTTAAAAAATAATGGCTTTGTTGAGACACAATTCACATACTATACCATTTACTCATTTAAAGAATACACCTGAACTGCTTTTAGTATATTCAGAGTTGTGCAACCATTACTATAATCAATTTTAGAATATTTTCATCAATCCTCCCCCACCCCAAGAAACTTCATACACTTTAGCAACCCGTGCACTTCCCTTTCTCCTTCAAGTCTAGGCAATCACTAATCTATTTTCTATCTCTATAGATTTGCCTGTTATGGATATTTCACACGGATGGAATCATACAGACTTTTGTGTCTGGCTTGTTTCACCCAGCATAATGTTTTAAAGGCTCATCCATATTGTGGCATGTATCAGTTATGTATTTCTTTTCATTGATGAATAATGTTCCATTTACCACATAATACCACATTTTGTTTATCCAGTCACCCATCGATGGACACTGTTTCCACTTTTCGACCTTTATGAATAATGCTGCTATTAACATTCATGCACAAAGTTTTGTGTGAACATACATTTTTAATTCTTTTGGCTATATACCTAGGAGCAGAATTGCTGGGTCATACGGTAATTCCATT
|
TTCCTTCCTGGGCCTCTGCCCATTCAGCCCCAAATCTGTTCAGTATATAGAAGGAGGATCCATCCATTCATCCATCCACTCATTCATTCATTCATCCATCCACCTTCCACCTATCCACTCATTCATCCATCCATCCACTCATCCATCCATCCACCATCCACCCATCCATCCATTCATCCATCCATCCATCCACCCACCCACCATCTATCCATCTGCTATTCATCCATCCACTTATTTATCCATCCATGTACTCATCTGTCCCTCTACTCATCCATCCACCCATTTATTCTTTCATTCATCCATCCTTGGATTGACTTATTTATTCATTTAATAAAAATTTATCTAGCACAACATATCAGTAATCAACACGAACCCTCCTGTTAAGGGGCTTGTAACTAAGTGGATACAATCCAGAGTGACTGCTGGGTCAGGGGTGGGGAGAAGCATTCAAGTTCTCATACAGGATGAGGGAAGAGTGTTTGGGGCAGAGAGAACAGCTGGTGGAAAGTCTCAGAGAAGAGAGAGCACGTGGTCTTTTTAAGGAGCTGAGAAAAGTTCTGTGGTGTGGCCGGGCATGGTGGCTTATGCCTGTAGTCCCAGCACTTTGGGAGGCTGAACTTGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATATGGCGATACCCTGTCCATACACAAAATTAAAAAATTAGCCAGGCATGGTGGCGTATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAATCCAGGAATTGGAGGCAGCAGTGAGCTATGATCTCACCACACACCCCAGCCTGGGTGACAGAGTGAGACCCCATCTCAAAAAAACAAAAAACAAAAAGTTATGTGGTGTTAGTTCTGTGACGTCGAATAGGGGGTGGAAGACAGAGGTGTCTTGAGAGAGATTTGGACAAAGGCAAATGATTCAGGGCTTTGAAAATGGGCTGGTATGTGAGGGTGATGGGTGTGTGAGCAGGAAGGGGCGTGGTCAGATCTGATAGTCAGATGAGATTCTCCTGGGGCCATTCATGAGGGACACACTGGAGAGGGTGAGGCTGGAGGCTGGGAGCACAGGAGGTGTGATTCAGATGGCCTGAGCTGGCAGAAAATAAGGGGGTGGATTAGGGGAAGACTCAGGTGAAGAAGTCCATTCTGGATAGACAGCTCAACCTGGTCAAAGGTTCAGAGGTGATCCACAGCAGGCGATGAGAATAGGGTTATCTGGTGTATGTTGAAGGATGAGGTGGTGGGAGAGGCATACAGGGGCCAGATGGAATTGGGTTTCAATGCCAGGCTGAGCCTGAACTTTTTACAAGTGCAATGGGGAGCCATGGGAGGTGTCTGAGCAGGGGAGGCTCATGTTCAGATCAGTGTTTTATAAGGATTTTTTCTCGGGTAGGTGTGGAGGACGGACTGGGTGAATACAGTGGGAGGTTGGAGCCCAGTGAGGAGGACTAAGGAAGTCATAAGCAAAGGTCAAGGGTTGGAACTCTGTTTTGAGGCCAGGCACGATGGCTCGTGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTGCTAAAAATACAAACAAATTAGCCGGGCATGGTGGCGGACACCTGTAATCCCAGCTACTCAGGAGGCAGAGGCAGGAAAACTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTGGAGATCGCACCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCGTAAAAAAAAACAAAAAACCAAAAAACTCTGTTTTGAGTCACCATTTTCCCTTTGCCCTCCACAGCTGCCATCGCCCCCAAGGATGACCTCTTCTATGGCTTCCTAAAACCTTGGCTAGGTGAGTGCCCAGTGGGTAGGCTGGGGCTGGGGCTTTAGAGAAGAGAGGGAAGAGCATGGGGTTCCTTGGAAGGTTTCAGAGTAACAGGAGAGGTCCCTAACCTCAGTCTTCTGGGCCCAGGGGATGGGGCTGCTGCTCAGCAAAGGTGACAAGTGGAGCCGGCACCGTCGCCTGCTGACACCCGCCTTCCACTTTGACATCCTGAAGCCTTACATGAAGATCTTCAACCAGAGCGCTGACATTATGCATGTGAGTCCTAAGGCTTTGAGGGAAGAGGGTGTCTTGGGAGTGAGGCTGGTCCAGGCTCCAACTCATGCATGGGCAAGCCATGTGATGTCAGGAGCCCTCACTGACTTTATCTATAAAATGAGCTTGTAGTGAAAACGCAGTCGGGTCCTTGTTAGGCTGACTCCCTCTCTGTGGTTTCCATGCACAGTCACCATGTATCTCTCTTCCAGGCTAAATGGCGGCATCTGGCAGAGGGCTCAGCGGTCTCCCTTGATATGTTTGAGCATATCAGCCTCATGACCCTGGACAGTCTTCAGAAATGTGTCTTCAGCTACAACAGCAACTGCCAAGAGTGAGTGTGACCCTTCTTGGGAAGATGGAGCCAGCTGCTCTAGGAGCAAGATGGTGGCAGGAGAAAGGGAACTCCCAGGCATTAGACAACTCTGGCCTATGGGAGCTCTGCCACGGATGGGCCATGTGCTTCCGGGAAACTGACCATCTCTCTGAGCTTCACTTTTTTTTTTAATCAAAAAAATGGGCATCATAATTCCTTCCCCATAGTCATTGTGTGAGAATTAAATGAGATAATGTGAATCAATGGCTTGGTATAAAGTAGGTGCTTAGTAAATGTTAGTATTTTTTCATTCCACTAGGAAGAGTATGTGGTCTTTGGACAGTGTCCTCCCCACTTTCTGAGGCTCAGTTTCCTTGTTTGTAAAAAAAGGATGACAATCTCTTACTTTCTGAGAGATGCTTTAAGGATAAAATGATGCAGCACTGCCCTGGCACATAGTTGATGCTCAGAGAATATTTGTTGAGTAAATGAATCAAATAACCAATGCCTTGCTTCATTAATTCATTCATTCATCAAATATTCATTGTGCACCTACTACGTGCCTGGCACCATGATATTGCTGCTGAGAACAGGGTGGTGAACAACAGACAGTCACAGTTCTGTGAAGTTTATAGTCTAAGTGGGGACATAAGGAATAAGGGAGATAATTAATGCAAAACTTGCAACACATAGTAGGTCCTCAGTAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAGCCCACTTCAGGACTGAGGACAGCTCCCTTCAAGCCTGCTTCACCTGTTAGTTTTTAAAAAATAATGGCTTTGTTGAGACACAATTCACATACTATACCATTTACTCATTTAAAGAATACACCTGAACTGCTTTTAGTATATTCAGAGTTGTGCAACCATTACTATAATCAATTTTAGAATATTTTCATCAATCCTCCCCCACCCCAAGAAACTTCATACACTTTAGCAACCCGTGCACTTCCCTTTCTCCTTCAAGTCTAGGCAATCACTAATCTATTTTCTATCTCTATAGATTTGCCTGTTATGGATATTTCACACGGATGGAATCATACAGACTTTTGTGTCTGGCTTGTTTCACCCAGCATAATGTTTTAAAGGCTCATCCATATTGTGGCATGTATCAGTTATGTATTTCTTTTCATTGATGAATAATGTTCCATTTACCACATAATACCACATTTTGTTTATCCAGTCACCCATCGATGGACACTGTTTCCACTTTTCGACCTTTATGAATAATGCTGCTATTAACATTCATGCACAAAGTTTTGTGTGAACATACATTTTTAATTCTTTTGGCTATATACCTAGGAGCAGAATTGCTGGGTCATACGGTAATTCCAT
|
pathogenic
| 300,853 |
Does the variant on chromosome 19 at location 15540728 affecting gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
TAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAGCCCACTTCAGGACTGAGGACAGCTCCCTTCAAGCCTGCTTCACCTGTTAGTTTTTAAAAAATAATGGCTTTGTTGAGACACAATTCACATACTATACCATTTACTCATTTAAAGAATACACCTGAACTGCTTTTAGTATATTCAGAGTTGTGCAACCATTACTATAATCAATTTTAGAATATTTTCATCAATCCTCCCCCACCCCAAGAAACTTCATACACTTTAGCAACCCGTGCACTTCCCTTTCTCCTTCAAGTCTAGGCAATCACTAATCTATTTTCTATCTCTATAGATTTGCCTGTTATGGATATTTCACACGGATGGAATCATACAGACTTTTGTGTCTGGCTTGTTTCACCCAGCATAATGTTTTAAAGGCTCATCCATATTGTGGCATGTATCAGTTATGTATTTCTTTTCATTGATGAATAATGTTCCATTTACCACATAATACCACATTTTGTTTATCCAGTCACCCATCGATGGACACTGTTTCCACTTTTCGACCTTTATGAATAATGCTGCTATTAACATTCATGCACAAAGTTTTGTGTGAACATACATTTTTAATTCTTTTGGCTATATACCTAGGAGCAGAATTGCTGGGTCATACGGTAATTCCATTTTAAACATTTTGAGGAACTGCTAAACTTTATTTCAGTGGGTTTCAACATGGTATGAAGTGGTTGTACCATTTTGCTCTCCCAACCAGTGATGTATGAGAGCTCCAGTTTTTCCACATACTCACTAACACTTGCTTTTTTTTGTTGTTGTTGTTTTGTTTGCTTTTTAGAGATAGGATATTGCTCTGTTGCTCAGGCTGGAGTGCAGCCCAACACTTGTTATTATAAGTTTTGATTTTAGTCACCTTAGTGGGGTGAAGTAGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGGTGACCAGTGCTGTTAAGTATCTTTTCACATTCTCATTGGAAATTTCTGTCTTCTTTGGAGAAATGCCTATTCATATCCATTGCCCATTTTAAAATAAGTTTTAAGAATTCTTTATTTATTTTAGGTACCAATCCCTTATCAGATAGACAATTTGCAAATATTTTCTCCCATGCTGAGGAGTGTAACCATTTAGTTTTAGTGATGCTACAATGACTATGCCTATGTTGAAAGTCTTTATCCCTCTTTGGGCCTGTTCAAAAATATACCCGAGACTGGGTGTGGTGGCTCAGACCTGTAACCCAGCACTTTGGGAGGCCAAGGCTGGAGGATCACTTGAGCTCACGAGTTCAAGGCTGCAGTGAGCTATGATTGTGCCACTGTACTGCAGCCTAGGTGACAGAGCAAGACCCTATCTAAAAAAATAAATAAATGAATTTAAAAATAGAGTTAATATAGGGCTTCTCTTTGTTATCTATTCAATGGGGACAGGAGGCTTATCTTAGCCAAGCCAGGGCTGTGCTATGCTAGGGGAAGGGGCTACACTCATGGATCCCCTTCTCCTTGGCAGGAAGATGAGTGATTATATCTCCGCTATCATTGAACTGAGCGCTCTGTCTGTCCGGCGCCAGTATCGCTTGCACCACTACCTCGACTTCATTTACTACCGCTCGGCGGATGGGCGGAGGTTCCGGCAGGCCTGTGACATGGTGCACCACTTCACCACTGAAGTCATCCAGGAACGGCGGCGGGCACTGCGTCAGCAGGGGGCCGAGGCCTGGCTTAAGGCCAAGCAGGGGAAGACCTTGGACTTTATTGATGTGCTGCTCCTGGCCAGGGTGAGGCTGGGCCCCCTGGAATTGCTGGCCTCCCGAGGGCTGGCCTCCCGAGGAATTGCATGTAAAATGATAAGTGTTAAAACTCCATTAGGCGTGGTGGCTCACACGTGTAATCCCAGCGCTTTGGGAGGCCAAGGCGGGAGGATCGCTTGAGCCCTGGAATTGGAGATCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAAAAAACAAATAAGTTGGGTGTGGTGCCGCATGCCTATGGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGTCTGGCTTGAGCCCAGGAGTTGGAAGCTGCAGTGAGCTATGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAAGCGAGACTCTGTCTCAAAACAAAACAAAACAATACACATGCTCAAAACAAAAAGAAATTCACATGGGTCTGGGATGGGGTCAGAACATGTAAGACTTACTGCGTGAGTTTTCTTGGGCTGCTATTACAAAGTACCACAAACTAAATGGCCTAAACATCAGCCATTTATTCTCTCACAGTTCTGGAAGCTAGAAGTCCAAGATCAAGGTATCTGCAGGGCTGGTTTCTTCTAAGGCCCATGAAGGATGAATCTGTTCCAGGCCTTGCTCCCTGGCTTGCAGAAGGCTGTCTTCTCCCTATGTCTGCGGATCATCTTCCCTCTGTGCCTGTCTCTGTCTTCGTCTCTTTGTATAAGGATTAGGGCCCTGCCCTAATGAGTTCATTTTGTCTTGATTACTTCTGCAAAGACCTCTCTCCAAACACGGTCATAGCCTGAGGTACTGGAAGTTAGGACTTATGAATTCTAGCGGAGGGGGGGTGGGCAGGGAACCATTCAGCTCATCACAATTGCAAAAATGAAATACATGACCTTGGGCTGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAAAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATCATGCCATTGCACTCAAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAATACATGACCTTGAAGAGATGAGACACTTCTATGGTCACTCATTGGTGTGTCTGTGGACCTTTTGGGTTCTGGATTCAAATAGTCCTGGATTCCAGTCCTGGCTCTGTCGCTTAGTGGATGTTTGACCTTAGTCATTGACTCTTCTTCCCAAGCCTCAGTTTCTCCATTTATACCATGGTGATCATAAAACCTGATCACAAGGTTGTCAGGCATCCAGTGGGATGCTTGGTGTTGGAGGCTGCTCAAGAAATATGAACTTCCTTCTTCTCCTCACTGTTGACTTTCTGTCCCTCTTTACATCTTTCTTTTCTTTTTTCTTGTTTTTTAAAAATGTAATTTAAAGTTCCAGGATAAGCCGGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATATTGAAACACCGTCTCTACTAAAAATAAAAAAAAAATATTAGCCGGGCGTGGTGGCATGCATCTGTAATCCCAGCTCCTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAATCTGGCAACAAGAGAGAAACTCCATCTCAAAAAATTTTTTTTTAAATTAAATGGAAAGTTCAAGGATACGTGTGTAGGGCGTGCAGGTTTGTTACGTAGGTAAACATGTGCCATGGTGGTTTACTGCACCTATCAACTCATCACCTAGGTATTAAGCCCTGCATGCATTTGCTATTTATCCTGATATTCTCCCTCCTCCTGCCACCCTGATAGGCCCCCCAAGTGTGTGTTGTTTCCCCCCTGTGTCCGTGTGTTTTCATTGTTCAG
|
TAACAAGCTAATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAGCCCACTTCAGGACTGAGGACAGCTCCCTTCAAGCCTGCTTCACCTGTTAGTTTTTAAAAAATAATGGCTTTGTTGAGACACAATTCACATACTATACCATTTACTCATTTAAAGAATACACCTGAACTGCTTTTAGTATATTCAGAGTTGTGCAACCATTACTATAATCAATTTTAGAATATTTTCATCAATCCTCCCCCACCCCAAGAAACTTCATACACTTTAGCAACCCGTGCACTTCCCTTTCTCCTTCAAGTCTAGGCAATCACTAATCTATTTTCTATCTCTATAGATTTGCCTGTTATGGATATTTCACACGGATGGAATCATACAGACTTTTGTGTCTGGCTTGTTTCACCCAGCATAATGTTTTAAAGGCTCATCCATATTGTGGCATGTATCAGTTATGTATTTCTTTTCATTGATGAATAATGTTCCATTTACCACATAATACCACATTTTGTTTATCCAGTCACCCATCGATGGACACTGTTTCCACTTTTCGACCTTTATGAATAATGCTGCTATTAACATTCATGCACAAAGTTTTGTGTGAACATACATTTTTAATTCTTTTGGCTATATACCTAGGAGCAGAATTGCTGGGTCATACGGTAATTCCATTTTAAACATTTTGAGGAACTGCTAAACTTTATTTCAGTGGGTTTCAACATGGTATGAAGTGGTTGTACCATTTTGCTCTCCCAACCAGTGATGTATGAGAGCTCCAGTTTTTCCACATACTCACTAACACTTGCTTTTTTTTGTTGTTGTTGTTTTGTTTGCTTTTTAGAGATAGGATATTGCTCTGTTGCTCAGGCTGGAGTGCAGCCCAACACTTGTTATTATAAGTTTTGATTTTAGTCACCTTAGTGGGGTGAAGTAGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGGTGACCAGTGCTGTTAAGTATCTTTTCACATTCTCATTGGAAATTTCTGTCTTCTTTGGAGAAATGCCTATTCATATCCATTGCCCATTTTAAAATAAGTTTTAAGAATTCTTTATTTATTTTAGGTACCAATCCCTTATCAGATAGACAATTTGCAAATATTTTCTCCCATGCTGAGGAGTGTAACCATTTAGTTTTAGTGATGCTACAATGACTATGCCTATGTTGAAAGTCTTTATCCCTCTTTGGGCCTGTTCAAAAATATACCCGAGACTGGGTGTGGTGGCTCAGACCTGTAACCCAGCACTTTGGGAGGCCAAGGCTGGAGGATCACTTGAGCTCACGAGTTCAAGGCTGCAGTGAGCTATGATTGTGCCACTGTACTGCAGCCTAGGTGACAGAGCAAGACCCTATCTAAAAAAATAAATAAATGAATTTAAAAATAGAGTTAATATAGGGCTTCTCTTTGTTATCTATTCAATGGGGACAGGAGGCTTATCTTAGCCAAGCCAGGGCTGTGCTATGCTAGGGGAAGGGGCTACACTCATGGATCCCCTTCTCCTTGGCAGGAAGATGAGTGATTATATCTCCGCTATCATTGAACTGAGCGCTCTGTCTGTCCGGCGCCAGTATCGCTTGCACCACTACCTCGACTTCATTTACTACCGCTCGGCGGATGGGCGGAGGTTCCGGCAGGCCTGTGACATGGTGCACCACTTCACCACTGAAGTCATCCAGGAACGGCGGCGGGCACTGCGTCAGCAGGGGGCCGAGGCCTGGCTTAAGGCCAAGCAGGGGAAGACCTTGGACTTTATTGATGTGCTGCTCCTGGCCAGGGTGAGGCTGGGCCCTGGAATTGCTGGCCTCCCGAGGGCTGGCCTCCCGAGGAATTGCATGTAAAATGATAAGTGTTAAAACTCCATTAGGCGTGGTGGCTCACACGTGTAATCCCAGCGCTTTGGGAGGCCAAGGCGGGAGGATCGCTTGAGCCCTGGAATTGGAGATCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAAAAAACAAATAAGTTGGGTGTGGTGCCGCATGCCTATGGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGTCTGGCTTGAGCCCAGGAGTTGGAAGCTGCAGTGAGCTATGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAAGCGAGACTCTGTCTCAAAACAAAACAAAACAATACACATGCTCAAAACAAAAAGAAATTCACATGGGTCTGGGATGGGGTCAGAACATGTAAGACTTACTGCGTGAGTTTTCTTGGGCTGCTATTACAAAGTACCACAAACTAAATGGCCTAAACATCAGCCATTTATTCTCTCACAGTTCTGGAAGCTAGAAGTCCAAGATCAAGGTATCTGCAGGGCTGGTTTCTTCTAAGGCCCATGAAGGATGAATCTGTTCCAGGCCTTGCTCCCTGGCTTGCAGAAGGCTGTCTTCTCCCTATGTCTGCGGATCATCTTCCCTCTGTGCCTGTCTCTGTCTTCGTCTCTTTGTATAAGGATTAGGGCCCTGCCCTAATGAGTTCATTTTGTCTTGATTACTTCTGCAAAGACCTCTCTCCAAACACGGTCATAGCCTGAGGTACTGGAAGTTAGGACTTATGAATTCTAGCGGAGGGGGGGTGGGCAGGGAACCATTCAGCTCATCACAATTGCAAAAATGAAATACATGACCTTGGGCTGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAAAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATCATGCCATTGCACTCAAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAATACATGACCTTGAAGAGATGAGACACTTCTATGGTCACTCATTGGTGTGTCTGTGGACCTTTTGGGTTCTGGATTCAAATAGTCCTGGATTCCAGTCCTGGCTCTGTCGCTTAGTGGATGTTTGACCTTAGTCATTGACTCTTCTTCCCAAGCCTCAGTTTCTCCATTTATACCATGGTGATCATAAAACCTGATCACAAGGTTGTCAGGCATCCAGTGGGATGCTTGGTGTTGGAGGCTGCTCAAGAAATATGAACTTCCTTCTTCTCCTCACTGTTGACTTTCTGTCCCTCTTTACATCTTTCTTTTCTTTTTTCTTGTTTTTTAAAAATGTAATTTAAAGTTCCAGGATAAGCCGGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATATTGAAACACCGTCTCTACTAAAAATAAAAAAAAAATATTAGCCGGGCGTGGTGGCATGCATCTGTAATCCCAGCTCCTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAATCTGGCAACAAGAGAGAAACTCCATCTCAAAAAATTTTTTTTTAAATTAAATGGAAAGTTCAAGGATACGTGTGTAGGGCGTGCAGGTTTGTTACGTAGGTAAACATGTGCCATGGTGGTTTACTGCACCTATCAACTCATCACCTAGGTATTAAGCCCTGCATGCATTTGCTATTTATCCTGATATTCTCCCTCCTCCTGCCACCCTGATAGGCCCCCCAAGTGTGTGTTGTTTCCCCCCTGTGTCCGTGTGTTTTCATTGTTCAGNN
|
benign
| 300,866 |
Classify the chromosome 19 variant at position 15540737 affecting gene CYP4F22 (cytochrome P450 family 4 subfamily F member 22) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
AATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAGCCCACTTCAGGACTGAGGACAGCTCCCTTCAAGCCTGCTTCACCTGTTAGTTTTTAAAAAATAATGGCTTTGTTGAGACACAATTCACATACTATACCATTTACTCATTTAAAGAATACACCTGAACTGCTTTTAGTATATTCAGAGTTGTGCAACCATTACTATAATCAATTTTAGAATATTTTCATCAATCCTCCCCCACCCCAAGAAACTTCATACACTTTAGCAACCCGTGCACTTCCCTTTCTCCTTCAAGTCTAGGCAATCACTAATCTATTTTCTATCTCTATAGATTTGCCTGTTATGGATATTTCACACGGATGGAATCATACAGACTTTTGTGTCTGGCTTGTTTCACCCAGCATAATGTTTTAAAGGCTCATCCATATTGTGGCATGTATCAGTTATGTATTTCTTTTCATTGATGAATAATGTTCCATTTACCACATAATACCACATTTTGTTTATCCAGTCACCCATCGATGGACACTGTTTCCACTTTTCGACCTTTATGAATAATGCTGCTATTAACATTCATGCACAAAGTTTTGTGTGAACATACATTTTTAATTCTTTTGGCTATATACCTAGGAGCAGAATTGCTGGGTCATACGGTAATTCCATTTTAAACATTTTGAGGAACTGCTAAACTTTATTTCAGTGGGTTTCAACATGGTATGAAGTGGTTGTACCATTTTGCTCTCCCAACCAGTGATGTATGAGAGCTCCAGTTTTTCCACATACTCACTAACACTTGCTTTTTTTTGTTGTTGTTGTTTTGTTTGCTTTTTAGAGATAGGATATTGCTCTGTTGCTCAGGCTGGAGTGCAGCCCAACACTTGTTATTATAAGTTTTGATTTTAGTCACCTTAGTGGGGTGAAGTAGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGGTGACCAGTGCTGTTAAGTATCTTTTCACATTCTCATTGGAAATTTCTGTCTTCTTTGGAGAAATGCCTATTCATATCCATTGCCCATTTTAAAATAAGTTTTAAGAATTCTTTATTTATTTTAGGTACCAATCCCTTATCAGATAGACAATTTGCAAATATTTTCTCCCATGCTGAGGAGTGTAACCATTTAGTTTTAGTGATGCTACAATGACTATGCCTATGTTGAAAGTCTTTATCCCTCTTTGGGCCTGTTCAAAAATATACCCGAGACTGGGTGTGGTGGCTCAGACCTGTAACCCAGCACTTTGGGAGGCCAAGGCTGGAGGATCACTTGAGCTCACGAGTTCAAGGCTGCAGTGAGCTATGATTGTGCCACTGTACTGCAGCCTAGGTGACAGAGCAAGACCCTATCTAAAAAAATAAATAAATGAATTTAAAAATAGAGTTAATATAGGGCTTCTCTTTGTTATCTATTCAATGGGGACAGGAGGCTTATCTTAGCCAAGCCAGGGCTGTGCTATGCTAGGGGAAGGGGCTACACTCATGGATCCCCTTCTCCTTGGCAGGAAGATGAGTGATTATATCTCCGCTATCATTGAACTGAGCGCTCTGTCTGTCCGGCGCCAGTATCGCTTGCACCACTACCTCGACTTCATTTACTACCGCTCGGCGGATGGGCGGAGGTTCCGGCAGGCCTGTGACATGGTGCACCACTTCACCACTGAAGTCATCCAGGAACGGCGGCGGGCACTGCGTCAGCAGGGGGCCGAGGCCTGGCTTAAGGCCAAGCAGGGGAAGACCTTGGACTTTATTGATGTGCTGCTCCTGGCCAGGGTGAGGCTGGGCCCCCTGGAATTGCTGGCCTCCCGAGGGCTGGCCTCCCGAGGAATTGCATGTAAAATGATAAGTGTTAAAACTCCATTAGGCGTGGTGGCTCACACGTGTAATCCCAGCGCTTTGGGAGGCCAAGGCGGGAGGATCGCTTGAGCCCTGGAATTGGAGATCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAAAAAACAAATAAGTTGGGTGTGGTGCCGCATGCCTATGGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGTCTGGCTTGAGCCCAGGAGTTGGAAGCTGCAGTGAGCTATGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAAGCGAGACTCTGTCTCAAAACAAAACAAAACAATACACATGCTCAAAACAAAAAGAAATTCACATGGGTCTGGGATGGGGTCAGAACATGTAAGACTTACTGCGTGAGTTTTCTTGGGCTGCTATTACAAAGTACCACAAACTAAATGGCCTAAACATCAGCCATTTATTCTCTCACAGTTCTGGAAGCTAGAAGTCCAAGATCAAGGTATCTGCAGGGCTGGTTTCTTCTAAGGCCCATGAAGGATGAATCTGTTCCAGGCCTTGCTCCCTGGCTTGCAGAAGGCTGTCTTCTCCCTATGTCTGCGGATCATCTTCCCTCTGTGCCTGTCTCTGTCTTCGTCTCTTTGTATAAGGATTAGGGCCCTGCCCTAATGAGTTCATTTTGTCTTGATTACTTCTGCAAAGACCTCTCTCCAAACACGGTCATAGCCTGAGGTACTGGAAGTTAGGACTTATGAATTCTAGCGGAGGGGGGGTGGGCAGGGAACCATTCAGCTCATCACAATTGCAAAAATGAAATACATGACCTTGGGCTGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAAAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATCATGCCATTGCACTCAAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAATACATGACCTTGAAGAGATGAGACACTTCTATGGTCACTCATTGGTGTGTCTGTGGACCTTTTGGGTTCTGGATTCAAATAGTCCTGGATTCCAGTCCTGGCTCTGTCGCTTAGTGGATGTTTGACCTTAGTCATTGACTCTTCTTCCCAAGCCTCAGTTTCTCCATTTATACCATGGTGATCATAAAACCTGATCACAAGGTTGTCAGGCATCCAGTGGGATGCTTGGTGTTGGAGGCTGCTCAAGAAATATGAACTTCCTTCTTCTCCTCACTGTTGACTTTCTGTCCCTCTTTACATCTTTCTTTTCTTTTTTCTTGTTTTTTAAAAATGTAATTTAAAGTTCCAGGATAAGCCGGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATATTGAAACACCGTCTCTACTAAAAATAAAAAAAAAATATTAGCCGGGCGTGGTGGCATGCATCTGTAATCCCAGCTCCTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAATCTGGCAACAAGAGAGAAACTCCATCTCAAAAAATTTTTTTTTAAATTAAATGGAAAGTTCAAGGATACGTGTGTAGGGCGTGCAGGTTTGTTACGTAGGTAAACATGTGCCATGGTGGTTTACTGCACCTATCAACTCATCACCTAGGTATTAAGCCCTGCATGCATTTGCTATTTATCCTGATATTCTCCCTCCTCCTGCCACCCTGATAGGCCCCCCAAGTGTGTGTTGTTTCCCCCCTGTGTCCGTGTGTTTTCATTGTTCAGCTCCCACTT
|
AATGACTTCGTTACTCTAGGCATTATAGGGGCACGTTCCAGTTGGATAAGGCAGAGATTGTCTTAGAAATTAAATAATTAATTCATCCAAGAAATATTTACTGAGTGCCTAGTAAGTGCCAACCCTGAACTAGGTGCTGGGAACACCATATTCAACAAGAAAGACAAGATGTTGCTTTTCTAGAGCTTCCATTTTAGTAGGAAGACAGGTAATAACCATGAACAAGTAAACAAACAAGAAAACGACAGACTGCAATAAGTGCATGAAAACAAGCCCACTTCAGGACTGAGGACAGCTCCCTTCAAGCCTGCTTCACCTGTTAGTTTTTAAAAAATAATGGCTTTGTTGAGACACAATTCACATACTATACCATTTACTCATTTAAAGAATACACCTGAACTGCTTTTAGTATATTCAGAGTTGTGCAACCATTACTATAATCAATTTTAGAATATTTTCATCAATCCTCCCCCACCCCAAGAAACTTCATACACTTTAGCAACCCGTGCACTTCCCTTTCTCCTTCAAGTCTAGGCAATCACTAATCTATTTTCTATCTCTATAGATTTGCCTGTTATGGATATTTCACACGGATGGAATCATACAGACTTTTGTGTCTGGCTTGTTTCACCCAGCATAATGTTTTAAAGGCTCATCCATATTGTGGCATGTATCAGTTATGTATTTCTTTTCATTGATGAATAATGTTCCATTTACCACATAATACCACATTTTGTTTATCCAGTCACCCATCGATGGACACTGTTTCCACTTTTCGACCTTTATGAATAATGCTGCTATTAACATTCATGCACAAAGTTTTGTGTGAACATACATTTTTAATTCTTTTGGCTATATACCTAGGAGCAGAATTGCTGGGTCATACGGTAATTCCATTTTAAACATTTTGAGGAACTGCTAAACTTTATTTCAGTGGGTTTCAACATGGTATGAAGTGGTTGTACCATTTTGCTCTCCCAACCAGTGATGTATGAGAGCTCCAGTTTTTCCACATACTCACTAACACTTGCTTTTTTTTGTTGTTGTTGTTTTGTTTGCTTTTTAGAGATAGGATATTGCTCTGTTGCTCAGGCTGGAGTGCAGCCCAACACTTGTTATTATAAGTTTTGATTTTAGTCACCTTAGTGGGGTGAAGTAGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGGTGACCAGTGCTGTTAAGTATCTTTTCACATTCTCATTGGAAATTTCTGTCTTCTTTGGAGAAATGCCTATTCATATCCATTGCCCATTTTAAAATAAGTTTTAAGAATTCTTTATTTATTTTAGGTACCAATCCCTTATCAGATAGACAATTTGCAAATATTTTCTCCCATGCTGAGGAGTGTAACCATTTAGTTTTAGTGATGCTACAATGACTATGCCTATGTTGAAAGTCTTTATCCCTCTTTGGGCCTGTTCAAAAATATACCCGAGACTGGGTGTGGTGGCTCAGACCTGTAACCCAGCACTTTGGGAGGCCAAGGCTGGAGGATCACTTGAGCTCACGAGTTCAAGGCTGCAGTGAGCTATGATTGTGCCACTGTACTGCAGCCTAGGTGACAGAGCAAGACCCTATCTAAAAAAATAAATAAATGAATTTAAAAATAGAGTTAATATAGGGCTTCTCTTTGTTATCTATTCAATGGGGACAGGAGGCTTATCTTAGCCAAGCCAGGGCTGTGCTATGCTAGGGGAAGGGGCTACACTCATGGATCCCCTTCTCCTTGGCAGGAAGATGAGTGATTATATCTCCGCTATCATTGAACTGAGCGCTCTGTCTGTCCGGCGCCAGTATCGCTTGCACCACTACCTCGACTTCATTTACTACCGCTCGGCGGATGGGCGGAGGTTCCGGCAGGCCTGTGACATGGTGCACCACTTCACCACTGAAGTCATCCAGGAACGGCGGCGGGCACTGCGTCAGCAGGGGGCCGAGGCCTGGCTTAAGGCCAAGCAGGGGAAGACCTTGGACTTTATTGATGTGCTGCTCCTGGCCAGGGTGAGGCTGGGCCCCCTGGATGCTGGCCTCCCGAGGGCTGGCCTCCCGAGGAATTGCATGTAAAATGATAAGTGTTAAAACTCCATTAGGCGTGGTGGCTCACACGTGTAATCCCAGCGCTTTGGGAGGCCAAGGCGGGAGGATCGCTTGAGCCCTGGAATTGGAGATCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAAAAAACAAATAAGTTGGGTGTGGTGCCGCATGCCTATGGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGTCTGGCTTGAGCCCAGGAGTTGGAAGCTGCAGTGAGCTATGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAAGCGAGACTCTGTCTCAAAACAAAACAAAACAATACACATGCTCAAAACAAAAAGAAATTCACATGGGTCTGGGATGGGGTCAGAACATGTAAGACTTACTGCGTGAGTTTTCTTGGGCTGCTATTACAAAGTACCACAAACTAAATGGCCTAAACATCAGCCATTTATTCTCTCACAGTTCTGGAAGCTAGAAGTCCAAGATCAAGGTATCTGCAGGGCTGGTTTCTTCTAAGGCCCATGAAGGATGAATCTGTTCCAGGCCTTGCTCCCTGGCTTGCAGAAGGCTGTCTTCTCCCTATGTCTGCGGATCATCTTCCCTCTGTGCCTGTCTCTGTCTTCGTCTCTTTGTATAAGGATTAGGGCCCTGCCCTAATGAGTTCATTTTGTCTTGATTACTTCTGCAAAGACCTCTCTCCAAACACGGTCATAGCCTGAGGTACTGGAAGTTAGGACTTATGAATTCTAGCGGAGGGGGGGTGGGCAGGGAACCATTCAGCTCATCACAATTGCAAAAATGAAATACATGACCTTGGGCTGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAAAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATCATGCCATTGCACTCAAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAATACATGACCTTGAAGAGATGAGACACTTCTATGGTCACTCATTGGTGTGTCTGTGGACCTTTTGGGTTCTGGATTCAAATAGTCCTGGATTCCAGTCCTGGCTCTGTCGCTTAGTGGATGTTTGACCTTAGTCATTGACTCTTCTTCCCAAGCCTCAGTTTCTCCATTTATACCATGGTGATCATAAAACCTGATCACAAGGTTGTCAGGCATCCAGTGGGATGCTTGGTGTTGGAGGCTGCTCAAGAAATATGAACTTCCTTCTTCTCCTCACTGTTGACTTTCTGTCCCTCTTTACATCTTTCTTTTCTTTTTTCTTGTTTTTTAAAAATGTAATTTAAAGTTCCAGGATAAGCCGGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGGCCAACATATTGAAACACCGTCTCTACTAAAAATAAAAAAAAAATATTAGCCGGGCGTGGTGGCATGCATCTGTAATCCCAGCTCCTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGCAGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAATCTGGCAACAAGAGAGAAACTCCATCTCAAAAAATTTTTTTTTAAATTAAATGGAAAGTTCAAGGATACGTGTGTAGGGCGTGCAGGTTTGTTACGTAGGTAAACATGTGCCATGGTGGTTTACTGCACCTATCAACTCATCACCTAGGTATTAAGCCCTGCATGCATTTGCTATTTATCCTGATATTCTCCCTCCTCCTGCCACCCTGATAGGCCCCCCAAGTGTGTGTTGTTTCCCCCCTGTGTCCGTGTGTTTTCATTGTTCAGCTCCCACTTNN
|
benign
| 300,867 |
A mutation at chromosome position 16970892 on chromosome 19 in gene CPAMD8 (C3 and PZP like alpha-2-macroglobulin domain containing 8): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Anterior_segment_dysgenesis_8']
|
CCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGTGCCCAGCCAAGTGTTTATATTTAAGATGAGAAAGACTGAAAAGTAATTACTTTGTGTCAACTCATGAAGGTAGAGTTGGAGAAGAAGGAGAAACAGAGTAAAAGGAAGAGGAGGGAAGGATGAGAGGAAGGAGAAAGGACAAAATAAAGAACTCTCTAAACAGAGTCTCTGAGAGTTGGGAGATCAAGCCCCAGGTTCTCACCCTGCCCAGATCCCTCTGTCCTCAGACAGGTCAGCTCTCCTGATTCATTTTCTTCTCTCTTCCATATCCCTAATCTTGTGCACTGGGGTAGGGCTAAGAATTGGGTAGGGAGGAGGTATATGAAGCAATCAGTGTCCTAGCCTGCTATGCCAATGGCCCCCAGGGAACATTGGGCAATGTCTGGAGATATTGTTGGTTGTTACAACTGGGAAGGAGTGTGACTGACATCTAGTGGGTGGAGGTCAGGGATGCTGCTCAACACTCTACAGTGCAGAGGACACCCCTCACAGTGCACAGAATAATCCTACCCTGCAATGGACTCAATGTTTGCATCCCCCTGAAAATTCATATGTTCAAATCTTAACCTCCGAGGTGATGGTGTTGAGGTGAAGCTTCTAGGAGATGATCAGGTTATGAAAGTGGATTGCTCATGAATGGGATTAGGGCCCTTATAAAAGGGACTCTAGGCCGGGTGCAGAGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCACAGCAGGCAAATCACTTGAGGCCAGGAGTTTGAGACCAGTGTGCCTAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCAAGCTCGTACCACTGCACTCCAGCCTGGGCAACAGAGCCAGGCTCCATCTCAAAAAAAAAAAAAAAACAAAAACAACGAAAAACTTACTAATAGCAGTTGTTAATATTATACTTTAAAAACACCTATTATTGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCGGGGTGTGGCGGGCGCCTATAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAGAGAGAAAGACACCTGTTATTTAGTTAAAATTTTCTTCCAGGCCAGGTACAGTGACTCACACCTGTAATCCCAGCACTTTGAGAGGCTGCGGCAGGCAAATCACTTGAGGCCAGGAGTTCATGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAATTAGACAGGCATGGTGGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGGGAGCCAAGATCACACCACTGGGGGTGTGGTCACACAGCCTGGGGGACAGATTGAGTGAGACTCCATCTCAAAAAAAAAAAGGCTCCAGAGAGCTCCCTCACTCCTTCTGCCATATGAGGATACAGCAAGAAGCCAGAGGGCACCATCAATGAAGCAGGAAGTGAGCCCTCACCAGACACCCAATCAGCTGGTGCCCTGTTCTTGGACTTCCAAGCCCCAAGAACCATGTGAAATAAATTTCAGTTGTTTATAAGCCACTCGGTCTATGGTCTTCTGTTATAGCAGCCAGGAAGGACAAAGACAAGCCCCAGATGTTAATAGGACCAGGGTTAGAAAACCTTGCTCAATGTATAAGCCGTTACCTGGGGGGGTGCCTGGAAGGAGCCACTGCCACCAGGCTCCCTGTGTGGGGCTGGAAAGCGGGGACAGCCTCATCGGTGTAGAGGCCACCGTCCTGCCGGTGGTTCAGGCTCACTCGGTCGGTCATCACCACCAGTCCCGTTTCCTAGGCAACAGACAACACCCAAACCATTGGTGGGGAAGTGGATGCTGACAGCCCCCAGAAGCATAAGGGAATGAATCACCCTGTGGCCACTGTCCCAATATCAGCTTGTGGCAACCTTGGGGGCATCATTCTTTTTTTGCTTTTTTGGGTTTGTTTTGTTTTGTTTTGTTTGTTTGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGGAAGCTCCACCTCCCAGGTTCACGCCTATCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGCCCGTCACCATGGGGCATCATTCTTTTACTCTGGGTTTGGTGGCACAGGCTGGGGAGAACGTGGGACCCAGTGACCATCCAGGGTGGAGAAGAGAGAACAGCACATTTGAACTGTGCAACCAAATCAGATGGTCCAAACACAAAAGGCCATATGTTGTATGATTCCGTTGAGATGAAACGCCCAGAACAGGCAAATCCATAGAGACAGAAAGCAGATCAACTGGTGACTGCCAGGGGCTGAGGGAGGGGAAATGGGGAGTAATTGCTACTGGGGATGGGGTTTCCTTTTGGGGGATGAAAATGGTCTGGAATTAAGTAGGGGTGGTGGTTGCACAGCACTGTGAATATAATAAATGCCACTGAATTTTAAACGGTGAGTTTTATGTTATATGAATTTCATCTCGATTAGAAAAATCATGGCCAGGCATAGTGGCACATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGATCAGGAGTTCAACACCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAGAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTGGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGCAAGACTCCATCTCAAAAGAAAAAGAAAAGAAAAGAAGGAAGGGGAAGTGAGGGGAGAGCAGGGGAGGAAATCAGTTGGCGCAGTACCTGACCCCAACCAAGGACCAACGGTGGGATGCAATGATCTCTTTTATTAGTATTAGTATTATTAGAGACGGCCTCCATCTGTGGTTCAGGCTGGGGTGCAGTGCTGCAATCATAGCTCACTGCAGCCTCAAACTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGACTAGAGGAGTGCACCACCATGCCCGGCTATGCAATTAGTCTTTTTATTCTGTCCTCATCATTGTACTAATTACTGGGAGCAACTGGATTTGAAAGAAGACTCACTGTAGCCTGGGCTGACTTGGATTTGTGAACAAGAATTTTTTTTTTTTAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGTAAGCTCCGCCTCCCAGGTTCATGCCATTCTCTCCTGCCTCATTCTCCTGAGTAGCTGGGACTACTGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTTTGAATAAGAAATTCAAACCCAGTTCCTTTGACTCAAAGGCGTCACCTCTGACTTCCAGAAGGGACCTGGAGTTCAAACTGCCAGGCAGTTCACATACTCATAAATGAAATGTTATTTTTCAAAACAAAAAACAAAACACAAAGGTTTATTTTGCCAGGTACAGTGGTGTATGTCTGTAATCCCAGCACTTCGGGAGGCTAACGC
|
CCCAGGCTGGTCTCAAACTCCTAGGCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGTGCCCAGCCAAGTGTTTATATTTAAGATGAGAAAGACTGAAAAGTAATTACTTTGTGTCAACTCATGAAGGTAGAGTTGGAGAAGAAGGAGAAACAGAGTAAAAGGAAGAGGAGGGAAGGATGAGAGGAAGGAGAAAGGACAAAATAAAGAACTCTCTAAACAGAGTCTCTGAGAGTTGGGAGATCAAGCCCCAGGTTCTCACCCTGCCCAGATCCCTCTGTCCTCAGACAGGTCAGCTCTCCTGATTCATTTTCTTCTCTCTTCCATATCCCTAATCTTGTGCACTGGGGTAGGGCTAAGAATTGGGTAGGGAGGAGGTATATGAAGCAATCAGTGTCCTAGCCTGCTATGCCAATGGCCCCCAGGGAACATTGGGCAATGTCTGGAGATATTGTTGGTTGTTACAACTGGGAAGGAGTGTGACTGACATCTAGTGGGTGGAGGTCAGGGATGCTGCTCAACACTCTACAGTGCAGAGGACACCCCTCACAGTGCACAGAATAATCCTACCCTGCAATGGACTCAATGTTTGCATCCCCCTGAAAATTCATATGTTCAAATCTTAACCTCCGAGGTGATGGTGTTGAGGTGAAGCTTCTAGGAGATGATCAGGTTATGAAAGTGGATTGCTCATGAATGGGATTAGGGCCCTTATAAAAGGGACTCTAGGCCGGGTGCAGAGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCACAGCAGGCAAATCACTTGAGGCCAGGAGTTTGAGACCAGTGTGCCTAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCAAGCTCGTACCACTGCACTCCAGCCTGGGCAACAGAGCCAGGCTCCATCTCAAAAAAAAAAAAAAAACAAAAACAACGAAAAACTTACTAATAGCAGTTGTTAATATTATACTTTAAAAACACCTATTATTGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGCGAATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCGGGGTGTGGCGGGCGCCTATAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAGAGAGAAAGACACCTGTTATTTAGTTAAAATTTTCTTCCAGGCCAGGTACAGTGACTCACACCTGTAATCCCAGCACTTTGAGAGGCTGCGGCAGGCAAATCACTTGAGGCCAGGAGTTCATGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACGAAAATTAGACAGGCATGGTGGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGGGAGCCAAGATCACACCACTGGGGGTGTGGTCACACAGCCTGGGGGACAGATTGAGTGAGACTCCATCTCAAAAAAAAAAAGGCTCCAGAGAGCTCCCTCACTCCTTCTGCCATATGAGGATACAGCAAGAAGCCAGAGGGCACCATCAATGAAGCAGGAAGTGAGCCCTCACCAGACACCCAATCAGCTGGTGCCCTGTTCTTGGACTTCCAAGCCCCAAGAACCATGTGAAATAAATTTCAGTTGTTTATAAGCCACTCGGTCTATGGTCTTCTGTTATAGCAGCCAGGAAGGACAAAGACAAGCCCCAGATGTTAATAGGACCAGGGTTAGAAAACCTTGCTCAATGTATAAGCCGTTACCTGGGGGGGGTGCCTGGAAGGAGCCACTGCCACCAGGCTCCCTGTGTGGGGCTGGAAAGCGGGGACAGCCTCATCGGTGTAGAGGCCACCGTCCTGCCGGTGGTTCAGGCTCACTCGGTCGGTCATCACCACCAGTCCCGTTTCCTAGGCAACAGACAACACCCAAACCATTGGTGGGGAAGTGGATGCTGACAGCCCCCAGAAGCATAAGGGAATGAATCACCCTGTGGCCACTGTCCCAATATCAGCTTGTGGCAACCTTGGGGGCATCATTCTTTTTTTGCTTTTTTGGGTTTGTTTTGTTTTGTTTTGTTTGTTTGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGGAAGCTCCACCTCCCAGGTTCACGCCTATCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGCCCGTCACCATGGGGCATCATTCTTTTACTCTGGGTTTGGTGGCACAGGCTGGGGAGAACGTGGGACCCAGTGACCATCCAGGGTGGAGAAGAGAGAACAGCACATTTGAACTGTGCAACCAAATCAGATGGTCCAAACACAAAAGGCCATATGTTGTATGATTCCGTTGAGATGAAACGCCCAGAACAGGCAAATCCATAGAGACAGAAAGCAGATCAACTGGTGACTGCCAGGGGCTGAGGGAGGGGAAATGGGGAGTAATTGCTACTGGGGATGGGGTTTCCTTTTGGGGGATGAAAATGGTCTGGAATTAAGTAGGGGTGGTGGTTGCACAGCACTGTGAATATAATAAATGCCACTGAATTTTAAACGGTGAGTTTTATGTTATATGAATTTCATCTCGATTAGAAAAATCATGGCCAGGCATAGTGGCACATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGATCAGGAGTTCAACACCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAGAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTGGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGCAAGACTCCATCTCAAAAGAAAAAGAAAAGAAAAGAAGGAAGGGGAAGTGAGGGGAGAGCAGGGGAGGAAATCAGTTGGCGCAGTACCTGACCCCAACCAAGGACCAACGGTGGGATGCAATGATCTCTTTTATTAGTATTAGTATTATTAGAGACGGCCTCCATCTGTGGTTCAGGCTGGGGTGCAGTGCTGCAATCATAGCTCACTGCAGCCTCAAACTCCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGACTAGAGGAGTGCACCACCATGCCCGGCTATGCAATTAGTCTTTTTATTCTGTCCTCATCATTGTACTAATTACTGGGAGCAACTGGATTTGAAAGAAGACTCACTGTAGCCTGGGCTGACTTGGATTTGTGAACAAGAATTTTTTTTTTTTAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGTAAGCTCCGCCTCCCAGGTTCATGCCATTCTCTCCTGCCTCATTCTCCTGAGTAGCTGGGACTACTGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTTTGAATAAGAAATTCAAACCCAGTTCCTTTGACTCAAAGGCGTCACCTCTGACTTCCAGAAGGGACCTGGAGTTCAAACTGCCAGGCAGTTCACATACTCATAAATGAAATGTTATTTTTCAAAACAAAAAACAAAACACAAAGGTTTATTTTGCCAGGTACAGTGGTGTATGTCTGTAATCCCAGCACTTCGGGAGGCTAACG
|
pathogenic
| 301,007 |
Determine if the mutation at chromosome 19, position 16977363 in gene CPAMD8 (C3 and PZP like alpha-2-macroglobulin domain containing 8) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Anterior_segment_dysgenesis_8']
|
TGGCTCCCGTGGGTGTGGCATGCTCCCATCCCAACCTCTTTATCACGTCATGACAACCTCCAGGAGATGGGCACTGGTAGCATCAGCCCATTTTAAGATGGGCAAACAGGAGCCAGGCACAGTGGCCCATGCCTCTAATCCCAGTTACTGGGGAGGCTGAAACAGGAGGCTGGCTTGTGCAAAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCCGCCCCTACAAAAGATAGAAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAGCCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATCGTTTAAGCCCAGGAGGTGTTCGCTACAGTGAGCTATGATCACGCCACTGCACTCCAGCCCAGGCAACAGAGCAACATCCCAACTCTAAAAATAATATAAAATAAGATGGGCAAATTGGAGCCAGAGAGGTGAGACCTGGCCCAATGTCATGTTGCAAAAATCTGATGACCTTGACTCCCTGATCTTGCAACTGTGCTGAAGCAGCAGGAAGGATTTATCAGACACCCATTAGGTTCCCTGAAAAATGAACCCGACGGAGAAAGCGAATCTGGATTCAAATGCCACTCTTCATTTATTGGAATGAGAGATGGGAAAGGGAGAGCAAGAGAAGGTAAAGCCCCGTGGAGGTCTAGAACCCAAGCCCGAGGGGTCTGCTCACCTGGGCAGGAGTCAGCCGGAACCCAGACCTGAGCAGGTAGACACTCTTATCAACTGCGGCGACGCACACACAGCTGCCCCTTGCAGCCCTGATCCGCAGGTCGACAACCTCCCCAGGTTGGGTCTCATTTGCTGAATACGTCACTGAAACCTTGGCGCAAATGCAGCAAGGGATAAGAAACTTGGTTCAGTTGGCTGTGAGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAAGCCCAGAGACAGAGGTTGCAGGGAGCTGAGAGAGTGTGGTTGCACCCCAGCCAGGGCAACAAGAATGAAACTCCATTTCAAACAATGAAAAAAAGAAACTTGGTTCAATCCAGGTTTGGTCTAGTCCAGAGGCATCTCTTCTGCCCCACCCATGCACCCCCTGCCCACCAAGGAGAGTGGGTCTTTGCCAGCTCAGCTGGGAACCTGGCCTCGCTACCTGGGTGAAACTGGTCCCACACTGTGAAGGGCAGCTGGTCATTGTGCAGCGGGCACAAAGAAGGGAACACAGAGGGACAGGCAGAGATGGGAAGGCAGGTGCTGGCGGAGAGCCTGTGGCAGTTTGTTTACAAGTTGCAGGGAGGAGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAAGCATGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGACATGGTGGCACATGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCCGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCTTGACTCCGTCTCAAAATAATAATAATAATAATAAAGTTGTTGCAGGGAGGGGGAGAGGAGGCTGAGGGTGCCAATGGAAACAAGTGCTGTCCCTTAAATCCTGAATTCAACAAAGGCAGAGAATAATTGATGGCTTTCCCCATGTGTTTTGAATGCAATCTCCTTTTGTGTGACTTTTGGAGATGCTTCAGTAAAGATGCAACTCATGTTCCCATAATTCCTTACATCATGCTGCGACACAACATGAGTCTCAGGTGTGCACAGACCCCCTGGCCAGCACCTTGGAGAAGCCCCGATGGCCCCTGGCTGTGTCCCAGGTTCAGTGCACGATGCTCTACCTGGTTTTCGAAGAAGGTCTCGACTGCAAACTGAAGGCTGTCGGCGACCCCTTCTCCATTCTCCCTGACGTAGAAGACCAGCAGGCGACCAAGGGGGACCATGCTGGGGGTCACGGCCAGATGAAGAGAGGTCACACACACGTCGACCTCAGCTTCTGGGGCTGGTGGGGGCTCTGAGGTGAGCAAAAGTAGAGAGAGGTGGTGAATTCTCCGCATCCGACATGCAACCTCAGCCATTCAGGCTCTGCCCCAATTTGCCCTGCGCTATGCTCCTGTCTACGCATTGAGACAGTCTGCATCTTTGGTTTTGAGATGCCCTTCCCAGGCTACATCCTCAGTCAATGCTGACTCTTTCTATTGACTCAGCTCTAGGGTCACCATGGGCTCCTACAGAGCAGGCTGGAATTTGCCTAGAATCATCCTCTCTGCCGGGGAACATGGTCCCTGCTCCCTGACCAGCCCTCTGCTTCCTCCGCGGACACCAAAACCACCTTGGCTTGTCCAGGCAGCACCACTGCAGCTCCCCAATATGCCCCTGACCTCCAGTCCCTCCCTCTGATTGGCTCTGTCTTGCTGGGGCCTGGGGCCAGCAGACCTGGGCAGCCATTATTTGCTGACTTGAACCGAGTTCATACTGCCTTCCCTGTGGGTAAATGATCCTTAAAGGATAGAGGATCTTAGAAGCCTGTCCAGGCACTCCCAAATACTCTACGGCAAGAGAATGAGGGTAGAAAGGCTCCCAGTTCCAGAATGGGCCATCTGTCAGCTGGTTCTGTGCAGAGCTCAGAGCAGCCAGTGGACAGGGATGGTAGGGGAAAGCGGGGACACAAGGAAACTCATGGGCAACAGGAGGAAGTGGGTACCCAATCGGCCTTGGGGTTCAAATCTTGGCTCTGGCCCCTACTAGGCAATGGGAAAGTCCCTGAAACCCCCACCCCCAAGTCACAGCCCATTCATCTGCAGATGGACACAGTGGAACCACCACCATCCCAGGCTGCAGTGGGGTTAAATGGGGACAGATTGTGGGGAGTTCCAAGCCCAGGGCTGGCCCTGGACAAGGATTCCAGGGAGACATAAAGTCCCTGTTATTTCACCCAGAAGAGAAGAGAAGACCAAGAGGGTGAAGGTGCACCATGCCCAAAGCAGGACTCTGGCCAGCAGTTCTCAGCCAAGGCAATTCTGCTACCCAGGGGATGCTGGCAATATCTGCGGATGTTTTTTGGTCATCACTGCTGGAGGGGATGCTACTGGCTTCCGGTGAATAGAAGCCAGAGATGCTATTCAGCATCCTACAGTGCATGGGATGGTCCCAAATGTTGACAGTGCAGAGGGTGAGAAAGCCTGCCTAAGAAGGAGGGATCTTCTCTGTCTGTCTATCTATCCATCCATCCATCTATCCACTCATCTTTCTATCTATCCATCCATCCATCTCTTCATCCATCCACCATCTACCCATCCATCCACTCACCCACCATCCACCCTTCCCTCTATTCATCAACCATCCATCATCCACCCATCCAACCATCCACCCATCCCTCTATTCATCATCCATCATCCACCCACCCACCATCCATCCATTTATCCATCCATCATCCACCCACCCATCCACCATCCAATCATCTATCCATCTGTTCATCCATCCATCTGTTCATCCATCCATCATCCACTCATCCACCCACCCCACTATCCATCCATCTATTCTTCCATCCATCATCCCCCATTCATCCACCCACTATCCATCCATCTATCCATCCAACCATCCATCTATTCATCCATCCATCATCCACCCATCCACCCACTATCCATCCATCCATTCATCTATTCATCCAGTCATCATCCGCCCACCCACTATCCATCCATCCATCCATCTATTCATCTAATCCTCATCCACCCACCCATTAGCCATCCATCCATCCATCCTTCTGTACCTCCATCCATCTATTCATCCATCCATCTATTCATCCAGCCATCCATCTGTCCATTCATCCATCCATCTGTCCATCCATCCATCTGTCCATTCATCCATCCATCCATCCATCCATC
|
TGGCTCCCGTGGGTGTGGCATGCTCCCATCCCAACCTCTTTATCACGTCATGACAACCTCCAGGAGATGGGCACTGGTAGCATCAGCCCATTTTAAGATGGGCAAACAGGAGCCAGGCACAGTGGCCCATGCCTCTAATCCCAGTTACTGGGGAGGCTGAAACAGGAGGCTGGCTTGTGCAAAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCCGCCCCTACAAAAGATAGAAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAGCCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATCGTTTAAGCCCAGGAGGTGTTCGCTACAGTGAGCTATGATCACGCCACTGCACTCCAGCCCAGGCAACAGAGCAACATCCCAACTCTAAAAATAATATAAAATAAGATGGGCAAATTGGAGCCAGAGAGGTGAGACCTGGCCCAATGTCATGTTGCAAAAATCTGATGACCTTGACTCCCTGATCTTGCAACTGTGCTGAAGCAGCAGGAAGGATTTATCAGACACCCATTAGGTTCCCTGAAAAATGAACCCGACGGAGAAAGCGAATCTGGATTCAAATGCCACTCTTCATTTATTGGAATGAGAGATGGGAAAGGGAGAGCAAGAGAAGGTAAAGCCCCGTGGAGGTCTAGAACCCAAGCCCGAGGGGTCTGCTCACCTGGGCAGGAGTCAGCCGGAACCCAGACCTGAGCAGGTAGACACTCTTATCAACTGCGGCGACGCACACACAGCTGCCCCTTGCAGCCCTGATCCGCAGGTCGACAACCTCCCCAGGTTGGGTCTCATTTGCTGAATACGTCACTGAAACCTTGGCGCAAATGCAGCAAGGGATAAGAAACTTGGTTCAGTTGGCTGTGAGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAAGCCCAGAGACAGAGGTTGCAGGGAGCTGAGAGAGTGTGGTTGCACCCCAGCCAGGGCAACAAGAATGAAACTCCATTTCAAACAATGAAAAAAAGAAACTTGGTTCAATCCAGGTTTGGTCTAGTCCAGAGGCATCTCTTCTGCCCCACCCATGCACCCCCTGCCCACCAAGGAGAGTGGGTCTTTGCCAGCTCAGCTGGGAACCTGGCCTCGCTACCTGGGTGAAACTGGTCCCACACTGTGAAGGGCAGCTGGTCATTGTGCAGCGGGCACAAAGAAGGGAACACAGAGGGACAGGCAGAGATGGGAAGGCAGGTGCTGGCGGAGAGCCTGTGGCAGTTTGTTTACAAGTTGCAGGGAGGAGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAAGCATGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGACATGGTGGCACATGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCCGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCTTGACTCCGTCTCAAAATAATAATAATAATAATAAAGTTGTTGCAGGGAGGGGGAGAGGAGGCTGAGGGTGCCAATGGAAACAAGTGCTGTCCCTTAAATCCTGAATTCAACAAAGGCAGAGAATAATTGATGGCTTTCCCCATGTGTTTTGAATGCAATCTCCTTTTGTGTGACTTTTGGAGATGCTTCAGTAAAGATGCAACTCATGTTCCCATAATTCCTTACATCATGCTGCGACACAACATGAGTCTCAGGTGTGCACAGACCCCCTGGCCAGCACCTTGGAGAAGCCCCGATGGCCCCTGGCTGTGTCCCAGGTTCAGTGCACGATGCTCTGGTTTTCGAAGAAGGTCTCGACTGCAAACTGAAGGCTGTCGGCGACCCCTTCTCCATTCTCCCTGACGTAGAAGACCAGCAGGCGACCAAGGGGGACCATGCTGGGGGTCACGGCCAGATGAAGAGAGGTCACACACACGTCGACCTCAGCTTCTGGGGCTGGTGGGGGCTCTGAGGTGAGCAAAAGTAGAGAGAGGTGGTGAATTCTCCGCATCCGACATGCAACCTCAGCCATTCAGGCTCTGCCCCAATTTGCCCTGCGCTATGCTCCTGTCTACGCATTGAGACAGTCTGCATCTTTGGTTTTGAGATGCCCTTCCCAGGCTACATCCTCAGTCAATGCTGACTCTTTCTATTGACTCAGCTCTAGGGTCACCATGGGCTCCTACAGAGCAGGCTGGAATTTGCCTAGAATCATCCTCTCTGCCGGGGAACATGGTCCCTGCTCCCTGACCAGCCCTCTGCTTCCTCCGCGGACACCAAAACCACCTTGGCTTGTCCAGGCAGCACCACTGCAGCTCCCCAATATGCCCCTGACCTCCAGTCCCTCCCTCTGATTGGCTCTGTCTTGCTGGGGCCTGGGGCCAGCAGACCTGGGCAGCCATTATTTGCTGACTTGAACCGAGTTCATACTGCCTTCCCTGTGGGTAAATGATCCTTAAAGGATAGAGGATCTTAGAAGCCTGTCCAGGCACTCCCAAATACTCTACGGCAAGAGAATGAGGGTAGAAAGGCTCCCAGTTCCAGAATGGGCCATCTGTCAGCTGGTTCTGTGCAGAGCTCAGAGCAGCCAGTGGACAGGGATGGTAGGGGAAAGCGGGGACACAAGGAAACTCATGGGCAACAGGAGGAAGTGGGTACCCAATCGGCCTTGGGGTTCAAATCTTGGCTCTGGCCCCTACTAGGCAATGGGAAAGTCCCTGAAACCCCCACCCCCAAGTCACAGCCCATTCATCTGCAGATGGACACAGTGGAACCACCACCATCCCAGGCTGCAGTGGGGTTAAATGGGGACAGATTGTGGGGAGTTCCAAGCCCAGGGCTGGCCCTGGACAAGGATTCCAGGGAGACATAAAGTCCCTGTTATTTCACCCAGAAGAGAAGAGAAGACCAAGAGGGTGAAGGTGCACCATGCCCAAAGCAGGACTCTGGCCAGCAGTTCTCAGCCAAGGCAATTCTGCTACCCAGGGGATGCTGGCAATATCTGCGGATGTTTTTTGGTCATCACTGCTGGAGGGGATGCTACTGGCTTCCGGTGAATAGAAGCCAGAGATGCTATTCAGCATCCTACAGTGCATGGGATGGTCCCAAATGTTGACAGTGCAGAGGGTGAGAAAGCCTGCCTAAGAAGGAGGGATCTTCTCTGTCTGTCTATCTATCCATCCATCCATCTATCCACTCATCTTTCTATCTATCCATCCATCCATCTCTTCATCCATCCACCATCTACCCATCCATCCACTCACCCACCATCCACCCTTCCCTCTATTCATCAACCATCCATCATCCACCCATCCAACCATCCACCCATCCCTCTATTCATCATCCATCATCCACCCACCCACCATCCATCCATTTATCCATCCATCATCCACCCACCCATCCACCATCCAATCATCTATCCATCTGTTCATCCATCCATCTGTTCATCCATCCATCATCCACTCATCCACCCACCCCACTATCCATCCATCTATTCTTCCATCCATCATCCCCCATTCATCCACCCACTATCCATCCATCTATCCATCCAACCATCCATCTATTCATCCATCCATCATCCACCCATCCACCCACTATCCATCCATCCATTCATCTATTCATCCAGTCATCATCCGCCCACCCACTATCCATCCATCCATCCATCTATTCATCTAATCCTCATCCACCCACCCATTAGCCATCCATCCATCCATCCTTCTGTACCTCCATCCATCTATTCATCCATCCATCTATTCATCCAGCCATCCATCTGTCCATTCATCCATCCATCTGTCCATCCATCCATCTGTCCATTCATCCATCCATCCATCCATCCATCNNNN
|
pathogenic
| 301,014 |
Mutation found at chromosome 19 position 17338523, gene GTPBP3 (GTP binding protein 3, mitochondrial): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
benign
|
CCTGGGCGACAGAGTGAGACCCTGTCTCAAAAATAAAATAAAATAAAATAATAAAGTAAATAAAAATATTGAGCAGGGCGAGGTAAGGGGGTATTAGAACTCTATTCTGTCAGACAGATTTTTCTTAACACGCAAGTGCGCCGCCCGCCCGCTCTGATCCAGAACCAGAGAATCCGCCATGCGAAGGCGCTCCCGGAGACCCCGCCCAGCCAGTGCCTGGAATTCCACCATCAGCGCTTTATTCCGAGTTTCAGTGCTGTCCTGGGTTAACCTGAAAGCAATCTCCGAGGCTCCCCTTTCTGGCTTTCGGGGAGCCAGAGACTGACCGGACACTTGGCTCTGCAGGTGCAGACCTGGACCAGAGAGACAGAGAGCCAAGGAAGTCCACAGTGGAGAGAGGGCTGTGCTGGGGGTTCCAGGAAGACTTCCTGGAGGAGGGGATCTTGGAGCTAGGCCTTGAAGACGAGTTTGTCAAATGAGGAAGGGCATCCGAAGCCGAGGGAACGGCAGAAGGGAACGCTGGGGAGGGGAGAGAATCTGGAGAGTTCCGGAAAAAGCAAGTAGGACTCTTTCCAGAAGTTCGGGCAAGATTTTCCCTGGATCAGGGCGTGGGTTCTCCAGTACTCGTCCCTCCCGGTCACCGAGATGCTCTGAGTTTCCGGTCTGAACCTGAACGTAAAGAGGTGTAGTCCCTCCTTTCTTGAACGGGAAAACTGAACGCACATAGGTCCTTGCCACGCCTAAGGCTGCGGAGTGAGCAGATGGAAAATGCGGGACTCAAAACCTCCCCTCGCTGTAATTTGCACTGCCCTGTGCCAAACTCTGTCCTTTCTTCCATTCCTTATTCCTATTGTCAGCCTCGCTGCGCTAGGACCCTAAAAATTTGGTCTCATGTTGCCCGGGGAACAACATTTCGCTACACCTACCTCCATACCGCCTCCCGCTCCCGCTCTCCCTTGCACCAGCCAATGGAAGCGAGTATCTTCAGACGGTGGGCAGGACGTATCCTAAGATACCCAATGGTGGTCGAGAATAGTTGAGCACTTTACTAGTCAAGCCGCGGAGTGGGCGGGGCCCCCTGCCCAGACTTGAAGCCACACAGGCAGGTCGGGCAGGCGGGTCGCAGGTTGTAAATCCATGTGGCGGGGGCTTTGGACCCTGGCGGCCCAAGCGGCACGTGGGCCTCGCAGGTGGGGCTACAGGGGAAGGGGTGCGACAGCTTGGGGTGCTGCTTGGACCCCAGACCCACTCCCTGGGTTTTAGGGGCCCAATTCCCTGCGGCAGAGCAATCATTCGCGTTCTTCCGTGCCTCAATCGTTCATGACCCTTGCGGCAGAGCCCATATCTGGGTCTCCTTCTGGCCTCACAGTCCCTAATCCGGTCACCCTTCGGCCTTCAGAACATCCAATTTGTGCATCCCCCAGCCGCAGAACCCCCCCACCTGGAGCATCTCGCGATCATCGAGCCCTCGGTCTACTTGACACTGAGGCTGAGCCTCCCAGGTGCGCTGATTCGCCTCCCCTCCGGTTCCAGATTGTGCACGCGCCGGAGCAGCGGCGCACCAGCCCCCGGCTCCGGCGCCACCATCTTCGCGCTAAGCTCTGGCCAAGGCCGCTGCGGCATCGCAGTGATCCGGACCAGCGGCCCCGCCAGCGGCCACGCCCTCCGAATTCTCACAGCACCCCGAGACCTGCCCCTTGCTCGCCACGCCAGCCTGCGCCTGCTCAGCGATCCCCGCTCCGGGGAGCCTCTGGACCGCGCACTGGTGCTCTGGTTCCCAGGTGAGGGTCCCCAGGTTCCGAGCCTCCTGTAGGTCCCATGACTCAGTTTCCCCCTTCCAAGGGTTTGCACTGGCTGTGCTGTCCTCCTGTCACCTGTCTGTCACATTAGGTCCCCAGAGTTTCACCGGTGAGGACTGCGTGGAGTTCCACGTGCATGGAGGCCCGGCAGTGGTGAGCGGCGTCCTGCAGGCCTTGGGTGAGTTGCAGCGTTGGGTGAGATGCTTGGTCCTCCCAATGGGCCTGGGTGGGGACCAGGGGGTGTCAGACTGGGACCTTCCTGCAGGCAGCGTGCCAGGGCTTCGACCGGCGGAGGCAGGCGAGTTCACCAGACGGGCGTTCGCCAATGGGAAGCTGAACCTGACCGAAGTGGAGGGGCTGGCGGACCTTATCCACGCGGAAACAGAGGCGCAGCGGCGGCAGGCCCTCAGGCAGCTGGACGGAGAGCTGGGCCACCTCTGCCGTGGCTGGGCCGAGACCCTCACCAAAGCAAGTCCCCCATTTGTCCATTCTCTCCCTCAGAGACCCCATCTGTGCAACCCCTGCATGAGACCCCCTCTCAATCCCGCATTCATTCCCTGCGTGAAAGCTTCCGGCCTATGAGCCGCCATTCTGGCCCCTGAAGTCGGGCTGGACAAATTGGGTGTGGGAAGGTGGGTTTCTGGGTGCACACACCACCTCTGCTCTCCCTGCCCCGCCAGGCTCTGGCCCACGTGGAGGCCTATATCGATTTCGGCGAGGATGACAACCTGGAGGAGGGGGTCCTGGAGCAAGGTGGGTCTACCTGGTGGTGGGGGAGGAAGACACCTCATATCAGCCCTCAAAGGCTCCCCTCACTGTCTCTCTCTGCCTGCCTTCTCTCACCCACAGCCGACATCGAAGTACGGGCACTGCAGGTGGCCCTGGGTGCACATCTACGAGATGCCAGGCGCGGGCAGAGGCTCCGCTCAGGGGTGCACGTAGTGGTCACTGGACCCCCCAATGCGGGCAAGAGCAGCCTAGTGAACCTGCTCAGTGAGTAGGCGGCGGGAAGGGGGCGGGGCCTAGTGCCAGGGGCGGGGCCAAGAGCTGGGTTATTGAGTTAGTTGTTCAGGTCTAAAGCTCCCTCCAGACATGGGGTAGAACCTGGGGGAGGAGCTCCCTTGTCTCCACCCTCTCCTCTTCTTCTGACCCTCCCCCAGGTCGGAAGCCTGTGTCCATCGTGTCCCCGGAGCCAGGGACCACCCGTGACGTGCTGGAGACCCCAGTCGACCTGGCCGGATTTCCTGTGCTGCTGAGCGACACGGCTGGGTTGCGGGAGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGATGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGGAGCGACCACGCCGAACTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTATGTTGGCCAGGTTGGTCTCTAACTCCTGAGCCTCGGCCTCCCAAAGTGTTGTGAGCCCACCGCACCTGGCCTGGTGTTTTGTTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTTCTGCCTGGGCCTCCCGAGTAGCTGGGATTAGAGGCGCCCACCACAATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACTGTGCCCGGCCAGTGATTTAGTTCTGATTAAGTCCTGCCCCCGGCCCTCCGGACATGTTTCTCATCCCTAAGCCCTCCGCCCAGCCCTCACGTTCTGCCCCGCCCTCTCGTGCTCTGTCCCGCCCTGGCACTCCGCTCTGCCCCTTGCGGTCTATCCCATCCCCTGTGCTCTGTCCACCCCCTACATTCTGCCCCACCCCTGGTGCTCTCTACCCCTTACCCTGTGGTGTGTCTGGTCCTTCTTG
|
CCTGGGCGACAGAGTGAGACCCTGTCTCAAAAATAAAATAAAATAAAATAATAAAGTAAATAAAAATATTGAGCAGGGCGAGGTAAGGGGGTATTAGAACTCTATTCTGTCAGACAGATTTTTCTTAACACGCAAGTGCGCCGCCCGCCCGCTCTGATCCAGAACCAGAGAATCCGCCATGCGAAGGCGCTCCCGGAGACCCCGCCCAGCCAGTGCCTGGAATTCCACCATCAGCGCTTTATTCCGAGTTTCAGTGCTGTCCTGGGTTAACCTGAAAGCAATCTCCGAGGCTCCCCTTTCTGGCTTTCGGGGAGCCAGAGACTGACCGGACACTTGGCTCTGCAGGTGCAGACCTGGACCAGAGAGACAGAGAGCCAAGGAAGTCCACAGTGGAGAGAGGGCTGTGCTGGGGGTTCCAGGAAGACTTCCTGGAGGAGGGGATCTTGGAGCTAGGCCTTGAAGACGAGTTTGTCAAATGAGGAAGGGCATCCGAAGCCGAGGGAACGGCAGAAGGGAACGCTGGGGAGGGGAGAGAATCTGGAGAGTTCCGGAAAAAGCAAGTAGGACTCTTTCCAGAAGTTCGGGCAAGATTTTCCCTGGATCAGGGCGTGGGTTCTCCAGTACTCGTCCCTCCCGGTCACCGAGATGCTCTGAGTTTCCGGTCTGAACCTGAACGTAAAGAGGTGTAGTCCCTCCTTTCTTGAACGGGAAAACTGAACGCACATAGGTCCTTGCCACGCCTAAGGCTGCGGAGTGAGCAGATGGAAAATGCGGGACTCAAAACCTCCCCTCGCTGTAATTTGCACTGCCCTGTGCCAAACTCTGTCCTTTCTTCCATTCCTTATTCCTATTGTCAGCCTCGCTGCGCTAGGACCCTAAAAATTTGGTCTCATGTTGCCCGGGGAACAACATTTCGCTACACCTACCTCCATACCGCCTCCCGCTCCCGCTCTCCCTTGCACCAGCCAATGGAAGCGAGTATCTTCAGACGGTGGGCAGGACGTATCCTAAGATACCCAATGGTGGTCGAGAATAGTTGAGCACTTTACTAGTCAAGCCGCGGAGTGGGCGGGGCCCCCTGCCCAGACTTGAAGCCACACAGGCAGGTCGGGCAGGCGGGTCGCAGGTTGTAAATCCATGTGGCGGGGGCTTTGGACCCTGGCGGCCCAAGCGGCACGTGGGCCTCGCAGGTGGGGCTACAGGGGAAGGGGTGCGACAGCTTGGGGTGCTGCTTGGACCCCAGACCCACTCCCTGGGTTTTAGGGGCCCAATTCCCTGCGGCAGAGCAATCATTCGCGTTCTTCCGTGCCTCAATCGTTCATGACCCTTGCGGCAGAGCCCATATCTGGGTCTCCTTCTGGCCTCACAGTCCCTAATCCGGTCACCCTTCGGCCTTCAGAACATCCAATTTGTGCATCCCCCAGCCGCAGAACCCCCCCACCTGGAGCATCTCGCGATCATCGAGCCCTCGGTCTACTTGACACTGAGGCTGAGCCTCCCAGGTGCGCTGATTCGCCTCCCCTCCGGTTCCAGATTGTGCACGCGCCGGAGCAGCGGCGCACCAGCCCCCGGCTCCGGCGCCACCATCTTCGCGCTAAGCTCTGGCCAAGGCCGCTGCGGCATCGCAGTGATCCGGACCAGCGGCCCCGCCAGCGGCCACGCCCTCCGAATTCTCACAGCACCCCGAGACCTGCCCCTTGCTCGCCACGCCAGCCTGCGCCTGCTCAGCGATCCCCGCTCCGGGGAGCCTCTGGACCGCGCACTGGTGCTCTGGTTCCCAGGTGAGGGTCCCCAGGTTCCGAGCCTCCTGTAGGTCCCATGACTCAGTTTCCCCCTTCCAAGGGTTTGCACTGGCTGTGCTGTCCTCCTGTCACCTGTCTGTCACATTAGGTCCCCAGAGTTTCACCGGTGAGGACTGCGTGGAGTTCCACGTGCATGGAGGCCCGGCAGTGGTGAGCGGCGTCCTGCAGGCCTTGGGTGAGTTGCAGCGTTGGGTGAGATGCTTGGTCCTCCCAATGGGCCTGGGTGGGGACCAGGGGGTGTCAGACTGGGGACCTTCCTGCAGGCAGCGTGCCAGGGCTTCGACCGGCGGAGGCAGGCGAGTTCACCAGACGGGCGTTCGCCAATGGGAAGCTGAACCTGACCGAAGTGGAGGGGCTGGCGGACCTTATCCACGCGGAAACAGAGGCGCAGCGGCGGCAGGCCCTCAGGCAGCTGGACGGAGAGCTGGGCCACCTCTGCCGTGGCTGGGCCGAGACCCTCACCAAAGCAAGTCCCCCATTTGTCCATTCTCTCCCTCAGAGACCCCATCTGTGCAACCCCTGCATGAGACCCCCTCTCAATCCCGCATTCATTCCCTGCGTGAAAGCTTCCGGCCTATGAGCCGCCATTCTGGCCCCTGAAGTCGGGCTGGACAAATTGGGTGTGGGAAGGTGGGTTTCTGGGTGCACACACCACCTCTGCTCTCCCTGCCCCGCCAGGCTCTGGCCCACGTGGAGGCCTATATCGATTTCGGCGAGGATGACAACCTGGAGGAGGGGGTCCTGGAGCAAGGTGGGTCTACCTGGTGGTGGGGGAGGAAGACACCTCATATCAGCCCTCAAAGGCTCCCCTCACTGTCTCTCTCTGCCTGCCTTCTCTCACCCACAGCCGACATCGAAGTACGGGCACTGCAGGTGGCCCTGGGTGCACATCTACGAGATGCCAGGCGCGGGCAGAGGCTCCGCTCAGGGGTGCACGTAGTGGTCACTGGACCCCCCAATGCGGGCAAGAGCAGCCTAGTGAACCTGCTCAGTGAGTAGGCGGCGGGAAGGGGGCGGGGCCTAGTGCCAGGGGCGGGGCCAAGAGCTGGGTTATTGAGTTAGTTGTTCAGGTCTAAAGCTCCCTCCAGACATGGGGTAGAACCTGGGGGAGGAGCTCCCTTGTCTCCACCCTCTCCTCTTCTTCTGACCCTCCCCCAGGTCGGAAGCCTGTGTCCATCGTGTCCCCGGAGCCAGGGACCACCCGTGACGTGCTGGAGACCCCAGTCGACCTGGCCGGATTTCCTGTGCTGCTGAGCGACACGGCTGGGTTGCGGGAGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGATGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGGAGCGACCACGCCGAACTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTATGTTGGCCAGGTTGGTCTCTAACTCCTGAGCCTCGGCCTCCCAAAGTGTTGTGAGCCCACCGCACCTGGCCTGGTGTTTTGTTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTTCTGCCTGGGCCTCCCGAGTAGCTGGGATTAGAGGCGCCCACCACAATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACTGTGCCCGGCCAGTGATTTAGTTCTGATTAAGTCCTGCCCCCGGCCCTCCGGACATGTTTCTCATCCCTAAGCCCTCCGCCCAGCCCTCACGTTCTGCCCCGCCCTCTCGTGCTCTGTCCCGCCCTGGCACTCCGCTCTGCCCCTTGCGGTCTATCCCATCCCCTGTGCTCTGTCCACCCCCTACATTCTGCCCCACCCCTGGTGCTCTCTACCCCTTACCCTGTGGTGTGTCTGGTCCTTCTT
|
benign
| 301,099 |
The genetic variant at chromosome 19, position 17339046, affecting gene GTPBP3 (GTP binding protein 3, mitochondrial): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Combined_oxidative_phosphorylation_defect_type_23', 'GTPBP3-related_disorder']
|
GGAGGGGAGAGAATCTGGAGAGTTCCGGAAAAAGCAAGTAGGACTCTTTCCAGAAGTTCGGGCAAGATTTTCCCTGGATCAGGGCGTGGGTTCTCCAGTACTCGTCCCTCCCGGTCACCGAGATGCTCTGAGTTTCCGGTCTGAACCTGAACGTAAAGAGGTGTAGTCCCTCCTTTCTTGAACGGGAAAACTGAACGCACATAGGTCCTTGCCACGCCTAAGGCTGCGGAGTGAGCAGATGGAAAATGCGGGACTCAAAACCTCCCCTCGCTGTAATTTGCACTGCCCTGTGCCAAACTCTGTCCTTTCTTCCATTCCTTATTCCTATTGTCAGCCTCGCTGCGCTAGGACCCTAAAAATTTGGTCTCATGTTGCCCGGGGAACAACATTTCGCTACACCTACCTCCATACCGCCTCCCGCTCCCGCTCTCCCTTGCACCAGCCAATGGAAGCGAGTATCTTCAGACGGTGGGCAGGACGTATCCTAAGATACCCAATGGTGGTCGAGAATAGTTGAGCACTTTACTAGTCAAGCCGCGGAGTGGGCGGGGCCCCCTGCCCAGACTTGAAGCCACACAGGCAGGTCGGGCAGGCGGGTCGCAGGTTGTAAATCCATGTGGCGGGGGCTTTGGACCCTGGCGGCCCAAGCGGCACGTGGGCCTCGCAGGTGGGGCTACAGGGGAAGGGGTGCGACAGCTTGGGGTGCTGCTTGGACCCCAGACCCACTCCCTGGGTTTTAGGGGCCCAATTCCCTGCGGCAGAGCAATCATTCGCGTTCTTCCGTGCCTCAATCGTTCATGACCCTTGCGGCAGAGCCCATATCTGGGTCTCCTTCTGGCCTCACAGTCCCTAATCCGGTCACCCTTCGGCCTTCAGAACATCCAATTTGTGCATCCCCCAGCCGCAGAACCCCCCCACCTGGAGCATCTCGCGATCATCGAGCCCTCGGTCTACTTGACACTGAGGCTGAGCCTCCCAGGTGCGCTGATTCGCCTCCCCTCCGGTTCCAGATTGTGCACGCGCCGGAGCAGCGGCGCACCAGCCCCCGGCTCCGGCGCCACCATCTTCGCGCTAAGCTCTGGCCAAGGCCGCTGCGGCATCGCAGTGATCCGGACCAGCGGCCCCGCCAGCGGCCACGCCCTCCGAATTCTCACAGCACCCCGAGACCTGCCCCTTGCTCGCCACGCCAGCCTGCGCCTGCTCAGCGATCCCCGCTCCGGGGAGCCTCTGGACCGCGCACTGGTGCTCTGGTTCCCAGGTGAGGGTCCCCAGGTTCCGAGCCTCCTGTAGGTCCCATGACTCAGTTTCCCCCTTCCAAGGGTTTGCACTGGCTGTGCTGTCCTCCTGTCACCTGTCTGTCACATTAGGTCCCCAGAGTTTCACCGGTGAGGACTGCGTGGAGTTCCACGTGCATGGAGGCCCGGCAGTGGTGAGCGGCGTCCTGCAGGCCTTGGGTGAGTTGCAGCGTTGGGTGAGATGCTTGGTCCTCCCAATGGGCCTGGGTGGGGACCAGGGGGTGTCAGACTGGGACCTTCCTGCAGGCAGCGTGCCAGGGCTTCGACCGGCGGAGGCAGGCGAGTTCACCAGACGGGCGTTCGCCAATGGGAAGCTGAACCTGACCGAAGTGGAGGGGCTGGCGGACCTTATCCACGCGGAAACAGAGGCGCAGCGGCGGCAGGCCCTCAGGCAGCTGGACGGAGAGCTGGGCCACCTCTGCCGTGGCTGGGCCGAGACCCTCACCAAAGCAAGTCCCCCATTTGTCCATTCTCTCCCTCAGAGACCCCATCTGTGCAACCCCTGCATGAGACCCCCTCTCAATCCCGCATTCATTCCCTGCGTGAAAGCTTCCGGCCTATGAGCCGCCATTCTGGCCCCTGAAGTCGGGCTGGACAAATTGGGTGTGGGAAGGTGGGTTTCTGGGTGCACACACCACCTCTGCTCTCCCTGCCCCGCCAGGCTCTGGCCCACGTGGAGGCCTATATCGATTTCGGCGAGGATGACAACCTGGAGGAGGGGGTCCTGGAGCAAGGTGGGTCTACCTGGTGGTGGGGGAGGAAGACACCTCATATCAGCCCTCAAAGGCTCCCCTCACTGTCTCTCTCTGCCTGCCTTCTCTCACCCACAGCCGACATCGAAGTACGGGCACTGCAGGTGGCCCTGGGTGCACATCTACGAGATGCCAGGCGCGGGCAGAGGCTCCGCTCAGGGGTGCACGTAGTGGTCACTGGACCCCCCAATGCGGGCAAGAGCAGCCTAGTGAACCTGCTCAGTGAGTAGGCGGCGGGAAGGGGGCGGGGCCTAGTGCCAGGGGCGGGGCCAAGAGCTGGGTTATTGAGTTAGTTGTTCAGGTCTAAAGCTCCCTCCAGACATGGGGTAGAACCTGGGGGAGGAGCTCCCTTGTCTCCACCCTCTCCTCTTCTTCTGACCCTCCCCCAGGTCGGAAGCCTGTGTCCATCGTGTCCCCGGAGCCAGGGACCACCCGTGACGTGCTGGAGACCCCAGTCGACCTGGCCGGATTTCCTGTGCTGCTGAGCGACACGGCTGGGTTGCGGGAGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGATGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGGAGCGACCACGCCGAACTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTATGTTGGCCAGGTTGGTCTCTAACTCCTGAGCCTCGGCCTCCCAAAGTGTTGTGAGCCCACCGCACCTGGCCTGGTGTTTTGTTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTTCTGCCTGGGCCTCCCGAGTAGCTGGGATTAGAGGCGCCCACCACAATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACTGTGCCCGGCCAGTGATTTAGTTCTGATTAAGTCCTGCCCCCGGCCCTCCGGACATGTTTCTCATCCCTAAGCCCTCCGCCCAGCCCTCACGTTCTGCCCCGCCCTCTCGTGCTCTGTCCCGCCCTGGCACTCCGCTCTGCCCCTTGCGGTCTATCCCATCCCCTGTGCTCTGTCCACCCCCTACATTCTGCCCCACCCCTGGTGCTCTCTACCCCTTACCCTGTGGTGTGTCTGGTCCTTCTTGCTCTGCCCCGCCACTCATGGTCGCCCCACTCCAGTGCTGTACCCGGCCCCTTTTGCTCTGTCCCAGCCCCTGTGCTGTGCCCTGTCCCTCTTGCTCTGCTCTTCCCCCTGCACAGTGCTCTGCCCCTCTTGCTCTGCCCCGCCCTCCTGTGCTGTGCCCCGCCCCTCCTGCCCTGCCCTACTCACTGCACTGTGCCCAGCCCCTCCTGCTCTGCCCCGCTCCCGCACCGTGACCGCTCCTCTTGCTCTGCCCTTCCCCCTGCACTGTGCCCCGCCCCTCTTGCTCTGCCCCACCCCCTGTGCTCGGCTTGGGCCCCCAACATTCTGCCGGTCCCCTGGTACTCTACTCCTCCCTCCCGACCTCACGCTTCGCAGCTCCCCCAGTGCTCTGCCTGGCCCCTCTAACTGTCCCTCCACCCAGTGCCTTCAATTGCTCAACCTGGGATCCCCGCTCAGTTGACCTTGCTCCCGCAGGCTAGAGCAGGCTGACCTCATTCTGGCCATGCTGGATGCTTCTGACCTGG
|
GGAGGGGAGAGAATCTGGAGAGTTCCGGAAAAAGCAAGTAGGACTCTTTCCAGAAGTTCGGGCAAGATTTTCCCTGGATCAGGGCGTGGGTTCTCCAGTACTCGTCCCTCCCGGTCACCGAGATGCTCTGAGTTTCCGGTCTGAACCTGAACGTAAAGAGGTGTAGTCCCTCCTTTCTTGAACGGGAAAACTGAACGCACATAGGTCCTTGCCACGCCTAAGGCTGCGGAGTGAGCAGATGGAAAATGCGGGACTCAAAACCTCCCCTCGCTGTAATTTGCACTGCCCTGTGCCAAACTCTGTCCTTTCTTCCATTCCTTATTCCTATTGTCAGCCTCGCTGCGCTAGGACCCTAAAAATTTGGTCTCATGTTGCCCGGGGAACAACATTTCGCTACACCTACCTCCATACCGCCTCCCGCTCCCGCTCTCCCTTGCACCAGCCAATGGAAGCGAGTATCTTCAGACGGTGGGCAGGACGTATCCTAAGATACCCAATGGTGGTCGAGAATAGTTGAGCACTTTACTAGTCAAGCCGCGGAGTGGGCGGGGCCCCCTGCCCAGACTTGAAGCCACACAGGCAGGTCGGGCAGGCGGGTCGCAGGTTGTAAATCCATGTGGCGGGGGCTTTGGACCCTGGCGGCCCAAGCGGCACGTGGGCCTCGCAGGTGGGGCTACAGGGGAAGGGGTGCGACAGCTTGGGGTGCTGCTTGGACCCCAGACCCACTCCCTGGGTTTTAGGGGCCCAATTCCCTGCGGCAGAGCAATCATTCGCGTTCTTCCGTGCCTCAATCGTTCATGACCCTTGCGGCAGAGCCCATATCTGGGTCTCCTTCTGGCCTCACAGTCCCTAATCCGGTCACCCTTCGGCCTTCAGAACATCCAATTTGTGCATCCCCCAGCCGCAGAACCCCCCCACCTGGAGCATCTCGCGATCATCGAGCCCTCGGTCTACTTGACACTGAGGCTGAGCCTCCCAGGTGCGCTGATTCGCCTCCCCTCCGGTTCCAGATTGTGCACGCGCCGGAGCAGCGGCGCACCAGCCCCCGGCTCCGGCGCCACCATCTTCGCGCTAAGCTCTGGCCAAGGCCGCTGCGGCATCGCAGTGATCCGGACCAGCGGCCCCGCCAGCGGCCACGCCCTCCGAATTCTCACAGCACCCCGAGACCTGCCCCTTGCTCGCCACGCCAGCCTGCGCCTGCTCAGCGATCCCCGCTCCGGGGAGCCTCTGGACCGCGCACTGGTGCTCTGGTTCCCAGGTGAGGGTCCCCAGGTTCCGAGCCTCCTGTAGGTCCCATGACTCAGTTTCCCCCTTCCAAGGGTTTGCACTGGCTGTGCTGTCCTCCTGTCACCTGTCTGTCACATTAGGTCCCCAGAGTTTCACCGGTGAGGACTGCGTGGAGTTCCACGTGCATGGAGGCCCGGCAGTGGTGAGCGGCGTCCTGCAGGCCTTGGGTGAGTTGCAGCGTTGGGTGAGATGCTTGGTCCTCCCAATGGGCCTGGGTGGGGACCAGGGGGTGTCAGACTGGGACCTTCCTGCAGGCAGCGTGCCAGGGCTTCGACCGGCGGAGGCAGGCGAGTTCACCAGACGGGCGTTCGCCAATGGGAAGCTGAACCTGACCGAAGTGGAGGGGCTGGCGGACCTTATCCACGCGGAAACAGAGGCGCAGCGGCGGCAGGCCCTCAGGCAGCTGGACGGAGAGCTGGGCCACCTCTGCCGTGGCTGGGCCGAGACCCTCACCAAAGCAAGTCCCCCATTTGTCCATTCTCTCCCTCAGAGACCCCATCTGTGCAACCCCTGCATGAGACCCCCTCTCAATCCCGCATTCATTCCCTGCGTGAAAGCTTCCGGCCTATGAGCCGCCATTCTGGCCCCTGAAGTCGGGCTGGACAAATTGGGTGTGGGAAGGTGGGTTTCTGGGTGCACACACCACCTCTGCTCTCCCTGCCCCGCCAGGCTCTGGCCCACGTGGAGGCCTATATCGATTTCGGCGAGGATGACAACCTGGAGGAGGGGGTCCTGGAGCAAGGTGGGTCTACCTGGTGGTGGGGAAGACACCTCATATCAGCCCTCAAAGGCTCCCCTCACTGTCTCTCTCTGCCTGCCTTCTCTCACCCACAGCCGACATCGAAGTACGGGCACTGCAGGTGGCCCTGGGTGCACATCTACGAGATGCCAGGCGCGGGCAGAGGCTCCGCTCAGGGGTGCACGTAGTGGTCACTGGACCCCCCAATGCGGGCAAGAGCAGCCTAGTGAACCTGCTCAGTGAGTAGGCGGCGGGAAGGGGGCGGGGCCTAGTGCCAGGGGCGGGGCCAAGAGCTGGGTTATTGAGTTAGTTGTTCAGGTCTAAAGCTCCCTCCAGACATGGGGTAGAACCTGGGGGAGGAGCTCCCTTGTCTCCACCCTCTCCTCTTCTTCTGACCCTCCCCCAGGTCGGAAGCCTGTGTCCATCGTGTCCCCGGAGCCAGGGACCACCCGTGACGTGCTGGAGACCCCAGTCGACCTGGCCGGATTTCCTGTGCTGCTGAGCGACACGGCTGGGTTGCGGGAGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGATGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGGAGCGACCACGCCGAACTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTATGTTGGCCAGGTTGGTCTCTAACTCCTGAGCCTCGGCCTCCCAAAGTGTTGTGAGCCCACCGCACCTGGCCTGGTGTTTTGTTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTTCTGCCTGGGCCTCCCGAGTAGCTGGGATTAGAGGCGCCCACCACAATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACTGTGCCCGGCCAGTGATTTAGTTCTGATTAAGTCCTGCCCCCGGCCCTCCGGACATGTTTCTCATCCCTAAGCCCTCCGCCCAGCCCTCACGTTCTGCCCCGCCCTCTCGTGCTCTGTCCCGCCCTGGCACTCCGCTCTGCCCCTTGCGGTCTATCCCATCCCCTGTGCTCTGTCCACCCCCTACATTCTGCCCCACCCCTGGTGCTCTCTACCCCTTACCCTGTGGTGTGTCTGGTCCTTCTTGCTCTGCCCCGCCACTCATGGTCGCCCCACTCCAGTGCTGTACCCGGCCCCTTTTGCTCTGTCCCAGCCCCTGTGCTGTGCCCTGTCCCTCTTGCTCTGCTCTTCCCCCTGCACAGTGCTCTGCCCCTCTTGCTCTGCCCCGCCCTCCTGTGCTGTGCCCCGCCCCTCCTGCCCTGCCCTACTCACTGCACTGTGCCCAGCCCCTCCTGCTCTGCCCCGCTCCCGCACCGTGACCGCTCCTCTTGCTCTGCCCTTCCCCCTGCACTGTGCCCCGCCCCTCTTGCTCTGCCCCACCCCCTGTGCTCGGCTTGGGCCCCCAACATTCTGCCGGTCCCCTGGTACTCTACTCCTCCCTCCCGACCTCACGCTTCGCAGCTCCCCCAGTGCTCTGCCTGGCCCCTCTAACTGTCCCTCCACCCAGTGCCTTCAATTGCTCAACCTGGGATCCCCGCTCAGTTGACCTTGCTCCCGCAGGCTAGAGCAGGCTGACCTCATTCTGGCCATGCTGGATGCTTCTGACCTGGNNNN
|
pathogenic
| 301,108 |
Determine if the mutation at chromosome 19, position 17339616 in gene GTPBP3 (GTP binding protein 3, mitochondrial) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
GCCACACAGGCAGGTCGGGCAGGCGGGTCGCAGGTTGTAAATCCATGTGGCGGGGGCTTTGGACCCTGGCGGCCCAAGCGGCACGTGGGCCTCGCAGGTGGGGCTACAGGGGAAGGGGTGCGACAGCTTGGGGTGCTGCTTGGACCCCAGACCCACTCCCTGGGTTTTAGGGGCCCAATTCCCTGCGGCAGAGCAATCATTCGCGTTCTTCCGTGCCTCAATCGTTCATGACCCTTGCGGCAGAGCCCATATCTGGGTCTCCTTCTGGCCTCACAGTCCCTAATCCGGTCACCCTTCGGCCTTCAGAACATCCAATTTGTGCATCCCCCAGCCGCAGAACCCCCCCACCTGGAGCATCTCGCGATCATCGAGCCCTCGGTCTACTTGACACTGAGGCTGAGCCTCCCAGGTGCGCTGATTCGCCTCCCCTCCGGTTCCAGATTGTGCACGCGCCGGAGCAGCGGCGCACCAGCCCCCGGCTCCGGCGCCACCATCTTCGCGCTAAGCTCTGGCCAAGGCCGCTGCGGCATCGCAGTGATCCGGACCAGCGGCCCCGCCAGCGGCCACGCCCTCCGAATTCTCACAGCACCCCGAGACCTGCCCCTTGCTCGCCACGCCAGCCTGCGCCTGCTCAGCGATCCCCGCTCCGGGGAGCCTCTGGACCGCGCACTGGTGCTCTGGTTCCCAGGTGAGGGTCCCCAGGTTCCGAGCCTCCTGTAGGTCCCATGACTCAGTTTCCCCCTTCCAAGGGTTTGCACTGGCTGTGCTGTCCTCCTGTCACCTGTCTGTCACATTAGGTCCCCAGAGTTTCACCGGTGAGGACTGCGTGGAGTTCCACGTGCATGGAGGCCCGGCAGTGGTGAGCGGCGTCCTGCAGGCCTTGGGTGAGTTGCAGCGTTGGGTGAGATGCTTGGTCCTCCCAATGGGCCTGGGTGGGGACCAGGGGGTGTCAGACTGGGACCTTCCTGCAGGCAGCGTGCCAGGGCTTCGACCGGCGGAGGCAGGCGAGTTCACCAGACGGGCGTTCGCCAATGGGAAGCTGAACCTGACCGAAGTGGAGGGGCTGGCGGACCTTATCCACGCGGAAACAGAGGCGCAGCGGCGGCAGGCCCTCAGGCAGCTGGACGGAGAGCTGGGCCACCTCTGCCGTGGCTGGGCCGAGACCCTCACCAAAGCAAGTCCCCCATTTGTCCATTCTCTCCCTCAGAGACCCCATCTGTGCAACCCCTGCATGAGACCCCCTCTCAATCCCGCATTCATTCCCTGCGTGAAAGCTTCCGGCCTATGAGCCGCCATTCTGGCCCCTGAAGTCGGGCTGGACAAATTGGGTGTGGGAAGGTGGGTTTCTGGGTGCACACACCACCTCTGCTCTCCCTGCCCCGCCAGGCTCTGGCCCACGTGGAGGCCTATATCGATTTCGGCGAGGATGACAACCTGGAGGAGGGGGTCCTGGAGCAAGGTGGGTCTACCTGGTGGTGGGGGAGGAAGACACCTCATATCAGCCCTCAAAGGCTCCCCTCACTGTCTCTCTCTGCCTGCCTTCTCTCACCCACAGCCGACATCGAAGTACGGGCACTGCAGGTGGCCCTGGGTGCACATCTACGAGATGCCAGGCGCGGGCAGAGGCTCCGCTCAGGGGTGCACGTAGTGGTCACTGGACCCCCCAATGCGGGCAAGAGCAGCCTAGTGAACCTGCTCAGTGAGTAGGCGGCGGGAAGGGGGCGGGGCCTAGTGCCAGGGGCGGGGCCAAGAGCTGGGTTATTGAGTTAGTTGTTCAGGTCTAAAGCTCCCTCCAGACATGGGGTAGAACCTGGGGGAGGAGCTCCCTTGTCTCCACCCTCTCCTCTTCTTCTGACCCTCCCCCAGGTCGGAAGCCTGTGTCCATCGTGTCCCCGGAGCCAGGGACCACCCGTGACGTGCTGGAGACCCCAGTCGACCTGGCCGGATTTCCTGTGCTGCTGAGCGACACGGCTGGGTTGCGGGAGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGATGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGGAGCGACCACGCCGAACTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTATGTTGGCCAGGTTGGTCTCTAACTCCTGAGCCTCGGCCTCCCAAAGTGTTGTGAGCCCACCGCACCTGGCCTGGTGTTTTGTTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTTCTGCCTGGGCCTCCCGAGTAGCTGGGATTAGAGGCGCCCACCACAATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACTGTGCCCGGCCAGTGATTTAGTTCTGATTAAGTCCTGCCCCCGGCCCTCCGGACATGTTTCTCATCCCTAAGCCCTCCGCCCAGCCCTCACGTTCTGCCCCGCCCTCTCGTGCTCTGTCCCGCCCTGGCACTCCGCTCTGCCCCTTGCGGTCTATCCCATCCCCTGTGCTCTGTCCACCCCCTACATTCTGCCCCACCCCTGGTGCTCTCTACCCCTTACCCTGTGGTGTGTCTGGTCCTTCTTGCTCTGCCCCGCCACTCATGGTCGCCCCACTCCAGTGCTGTACCCGGCCCCTTTTGCTCTGTCCCAGCCCCTGTGCTGTGCCCTGTCCCTCTTGCTCTGCTCTTCCCCCTGCACAGTGCTCTGCCCCTCTTGCTCTGCCCCGCCCTCCTGTGCTGTGCCCCGCCCCTCCTGCCCTGCCCTACTCACTGCACTGTGCCCAGCCCCTCCTGCTCTGCCCCGCTCCCGCACCGTGACCGCTCCTCTTGCTCTGCCCTTCCCCCTGCACTGTGCCCCGCCCCTCTTGCTCTGCCCCACCCCCTGTGCTCGGCTTGGGCCCCCAACATTCTGCCGGTCCCCTGGTACTCTACTCCTCCCTCCCGACCTCACGCTTCGCAGCTCCCCCAGTGCTCTGCCTGGCCCCTCTAACTGTCCCTCCACCCAGTGCCTTCAATTGCTCAACCTGGGATCCCCGCTCAGTTGACCTTGCTCCCGCAGGCTAGAGCAGGCTGACCTCATTCTGGCCATGCTGGATGCTTCTGACCTGGCCTCTCCCTCCAGTTGCAACTTCCTGGCCACCGTCGTAGCCTCTGTGGGAGCCCAGAGCCCCAGTGACAGCAGCCAGCGCCTCCTCCTGGTGCTGAACAAGTCGGACCTGCTGTCCCCGGAGGGCCCAGGTCCCGGTCCTGACCTGCCCCCGCACCTGCTGCTGTCCTGTCTGACGGGAGAGGGGCTGGACGGCCTCCTGGAGGCGCTGAGGAAGGAGCTAGCTGCAGTGTGAGCCCCCTCCCACTCCCAGCCTCCCCTGACCCACAGTTTAAGTGTGGGTCCCTCAACTTCAATTTCTGAACCTACAAAATGGGTACAACCATTTCCCCTTCAAGGGATGGTTGTAAAAGGTCGGGAGAGACCATGTCTCTTGTCTCTTCCAGGTGTGGGGACCCGTCCACAGATCCCCCGCTGCTGACCCGAGCAAGGCACCAGCACCACCTCCAGGGTTGCCTGGATGCCCTCGGCCACTACAAGCAGTCAAAAGACCTGGCCCTGGCGGCAGAGGCGCTGCGGGTGGCCCGGGGTCACCTGACCCGGCTCACAGGTGGAGGGGGTACCGAGGAGAT
|
GCCACACAGGCAGGTCGGGCAGGCGGGTCGCAGGTTGTAAATCCATGTGGCGGGGGCTTTGGACCCTGGCGGCCCAAGCGGCACGTGGGCCTCGCAGGTGGGGCTACAGGGGAAGGGGTGCGACAGCTTGGGGTGCTGCTTGGACCCCAGACCCACTCCCTGGGTTTTAGGGGCCCAATTCCCTGCGGCAGAGCAATCATTCGCGTTCTTCCGTGCCTCAATCGTTCATGACCCTTGCGGCAGAGCCCATATCTGGGTCTCCTTCTGGCCTCACAGTCCCTAATCCGGTCACCCTTCGGCCTTCAGAACATCCAATTTGTGCATCCCCCAGCCGCAGAACCCCCCCACCTGGAGCATCTCGCGATCATCGAGCCCTCGGTCTACTTGACACTGAGGCTGAGCCTCCCAGGTGCGCTGATTCGCCTCCCCTCCGGTTCCAGATTGTGCACGCGCCGGAGCAGCGGCGCACCAGCCCCCGGCTCCGGCGCCACCATCTTCGCGCTAAGCTCTGGCCAAGGCCGCTGCGGCATCGCAGTGATCCGGACCAGCGGCCCCGCCAGCGGCCACGCCCTCCGAATTCTCACAGCACCCCGAGACCTGCCCCTTGCTCGCCACGCCAGCCTGCGCCTGCTCAGCGATCCCCGCTCCGGGGAGCCTCTGGACCGCGCACTGGTGCTCTGGTTCCCAGGTGAGGGTCCCCAGGTTCCGAGCCTCCTGTAGGTCCCATGACTCAGTTTCCCCCTTCCAAGGGTTTGCACTGGCTGTGCTGTCCTCCTGTCACCTGTCTGTCACATTAGGTCCCCAGAGTTTCACCGGTGAGGACTGCGTGGAGTTCCACGTGCATGGAGGCCCGGCAGTGGTGAGCGGCGTCCTGCAGGCCTTGGGTGAGTTGCAGCGTTGGGTGAGATGCTTGGTCCTCCCAATGGGCCTGGGTGGGGACCAGGGGGTGTCAGACTGGGACCTTCCTGCAGGCAGCGTGCCAGGGCTTCGACCGGCGGAGGCAGGCGAGTTCACCAGACGGGCGTTCGCCAATGGGAAGCTGAACCTGACCGAAGTGGAGGGGCTGGCGGACCTTATCCACGCGGAAACAGAGGCGCAGCGGCGGCAGGCCCTCAGGCAGCTGGACGGAGAGCTGGGCCACCTCTGCCGTGGCTGGGCCGAGACCCTCACCAAAGCAAGTCCCCCATTTGTCCATTCTCTCCCTCAGAGACCCCATCTGTGCAACCCCTGCATGAGACCCCCTCTCAATCCCGCATTCATTCCCTGCGTGAAAGCTTCCGGCCTATGAGCCGCCATTCTGGCCCCTGAAGTCGGGCTGGACAAATTGGGTGTGGGAAGGTGGGTTTCTGGGTGCACACACCACCTCTGCTCTCCCTGCCCCGCCAGGCTCTGGCCCACGTGGAGGCCTATATCGATTTCGGCGAGGATGACAACCTGGAGGAGGGGGTCCTGGAGCAAGGTGGGTCTACCTGGTGGTGGGGGAGGAAGACACCTCATATCAGCCCTCAAAGGCTCCCCTCACTGTCTCTCTCTGCCTGCCTTCTCTCACCCACAGCCGACATCGAAGTACGGGCACTGCAGGTGGCCCTGGGTGCACATCTACGAGATGCCAGGCGCGGGCAGAGGCTCCGCTCAGGGGTGCACGTAGTGGTCACTGGACCCCCCAATGCGGGCAAGAGCAGCCTAGTGAACCTGCTCAGTGAGTAGGCGGCGGGAAGGGGGCGGGGCCTAGTGCCAGGGGCGGGGCCAAGAGCTGGGTTATTGAGTTAGTTGTTCAGGTCTAAAGCTCCCTCCAGACATGGGGTAGAACCTGGGGGAGGAGCTCCCTTGTCTCCACCCTCTCCTCTTCTTCTGACCCTCCCCCAGGTCGGAAGCCTGTGTCCATCGTGTCCCCGGAGCCAGGGACCACCCGTGACGTGCTGGAGACCCCAGTCGACCTGGCCGGATTTCCTGTGCTGCTGAGCGACACGGCTGGGTTGCGGGAGGGCGTGGGGCCCGTGGAGCAGGAGGGCGTGCGGCGCGCCCGGGAGAGGTGGGCGGACAGGGTGGTGGGAGGGGAACGCGGGGCCCTTTCTCTGCCTTTTCTCCCTGTTGCGTTTATTTTTCATTCTTCCTGAATCAGAGAACCTGCTAAGCCCTATCAAGCATGGATCTCAGGGATTTGGTTCTTTTTTTTTTTTTTTTTTTTTACTCCGAGACCGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGTATCTCAGCTCACTGCAAGCTCTGTCTTCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGGAGCGACCACGCCGAACTATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACTATGTTGGCCAGGTTGGTCTCTAACTCCTGAGCCTCGGCCTCCCAAAGTGTTGTGAGCCCACCGCACCTGGCCTGGTGTTTTGTTTTTGTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTTCTGCCTGGGCCTCCCGAGTAGCTGGGATTAGAGGCGCCCACCACAATGCCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACTGTGCCCGGCCAGTGATTTAGTTCTGATTAAGTCCTGCCCCCGGCCCTCCGGACATGTTTCTCATCCCTAAGCCCTCCGCCCAGCCCTCACGTTCTGCCCCGCCCTCTCGTGCTCTGTCCCGCCCTGGCACTCCGCTCTGCCCCTTGCGGTCTATCCCATCCCCTGTGCTCTGTCCACCCCCTACATTCTGCCCCACCCCTGGTGCTCTCTACCCCTTACCCTGTGGTGTGTCTGGTCCTTCTTGCTCTGCCCCGCCACTCATGGTCGCCCCACTCCAGTGCTGTACCCGGCCCCTTTTGCTCTGTCCCAGCCCCTGTGCTGTGCCCTGTCCCTCTTGCTCTGCTCTTCCCCCTGCACAGTGCTCTGCCCCTCTTGCTCTGCCCCGCCCTCCTGTGCTGTGCCCCGCCCCTCCTGCCCTGCCCTACTCACTGCACTGTGCCCAGCCCCTCCTGCTCTGCCCCGCTCCCGCACCGTGACCGCTCCTCTTGCTCTGCCCTTCCCCCTGCACTGTGCCCCGCCCCTCTTGCTCTGCCCCACCCCCTGTGCTCGGCTTGGGCCCCCAACATTCTGCCGGTCCCCTGGTACTCTACTCCTCCCTCCCGACCTCACGCTTCGCAGCTCCCCCAGTGCTCTGCCTGGCCCCTCTAACTGTCCCTCCACCCAGTGCCTTCAATTGCTCAACCTGGGATCCCCGCTCAGTTGACCTTGCTCCCGCAGGCTAGAGCAGGCTGACCTCATTCTGGCCATGCTGGATGCTTCTGACCTGGCCTCTCCCTCCAGTTGCAACTTCCTGGCCACCGTCGTAGCCTCTGTGGGAGCCCAGAGCCCCAGTGACAGCAGCCAGCGCCTCCTCCTGGTGCTGAACAAGTCGGACCTGCTGTCCCCGGAGGGCCCAGGTCCCGGTCCTGACCTGCCCCCGCACCTGCTGCTGTCCTGTCTGACGGGAGAGGGGCTGGACGGCCTCCTGGAGGCGCTGAGGAAGGAGCTAGCTGCAGTGTGAGCCCCCTCCCACTCCCAGCCTCCCCTGACCCACAGTTTAAGTGTGGGTCCCTCAACTTCAATTTCTGAACCTACAAAATGGGTACAACCATTTCCCCTTCAAGGGATGGTTGTAAAAGGTCGGGAGAGACCATGTCTCTTGTCTCTTCCAGGTGTGGGGACCCGTCCACAGATCCCCCGCTGCTGACCCGAGCAAGGCACCAGCACCACCTCCAGGGTTGCCTGGATGCCCTCGGCCACTACAAGCAGTCAAAAGACCTGGCCCTGGCGGCAGAGGCGCTGCGGGTGGCCCGGGGTCACCTGACCCGGCTCACAGGTGGAGGGGGTACCGAGGAGATNNN
|
benign
| 301,116 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 17826515, gene JAK3 (Janus kinase 3). What disease(s) is it linked to if pathogenic?
|
benign
|
CCCCACAGCCTCGCTCCCCCAACCTGGCCTTGTCCTCTGACCACCGGGAGAGCATCCTGTTCCTTCCCCACCCACAGAGAGCCTGTAATCAGCTCCCCCAGGCTGCAGCCAAGGCCAGCAGCTGGGGCTGGGAGTGAGGGGGCTCTGTCCTTGAGGGCCCCAGCCAAGCCCCACCCAGTGGTCCTCCTCCACCAGCCTGCCCTGGGGCCCCCACAGTGGCTCCCTGAGAGGTCTCTGGCCCACAGCTCTAACCGCATCCCTCCCAGCTCACACACCCTCTGAGGCTCCCCATCGCCCCAAGTCCAGCACAAAATCTTTTCCACTGAATTCCTTTATTCAGTCAACAAACATTTCCAGAGCCCCCTCTGTACTGAGGCCTCAGCCCAGCCCCCAAGGAACCCTGAGGTCAGGGGAGACAGCTGGACACAGACACTTCCCCAGCCCCAGGGCCAGAGTGGGGCTGGAGGGAAGGACAGGGCTACAGTAGTAGTGGGGGTATATGAGGGAAGGCTGCAAGGATGTGGTAGCTGGAGTTTTGAGAGATGGATAAGAGTTTTCCAAGGAGGCAAAAGTGGCAGAAAAGCTTTGCAGGTGAGGAGGAGCAGCAGAAGCTTAACCTGCATGAGAATCCCTCTCACCAGTCAGAAAGTTGACCCTGCACAGCCAAGGGGTAAGCTCTGACCATTTTGCAGGGGACAGAACTGAGACCCAGAGAGGGAAAGGAACTTGCCCACTGTCACACTGCATGGAAGGGGCAAAACTGTAGGCTCCAATACTTGGGCTCTTAACCTCCTTACTCTGAGCCTTCTCACGCTTGGCATGCTGTTCCCTCTGCCAGGAATGCCTTTCCTTCCCTTGATTGCGTGAAAAGTTCCTGCCAGGTTTGGTGTCATCCCTTTGTGCCCCTTGTAGGGTGAGGACAGAAAGGGTCCCATTGGACAGGTGGGAAAACTGAAGCCCTAGGACACTCAGATACCATTAGGGTGGACTGGGACCCCAGCCTTTCCTGCCCCCTTTCAGGATCCCAAAGAGATACACGGGCTCCCCTAAAAGGCAGAGTCCCAGCCACAGCAACTGCTCTTGTCCTTGGCTTCCTCCAGAGAAACAGAGATCGGGGAGCAGAAGTCAGATCATACATTTAAAGCTACATGAGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGAGATGGAAACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGAGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCTAGATTGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGCTACATGAATGTCCCCATTGGAAATAAGACAGGAAACTCAAAACTAGGTGCTGTAGTCCCAGCTATTTAGGAGGATAAGGCAGGAGGATCACTGTAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGCAAGATCCTGTCTCTTAAAAATAATAATAATAAATTTAAAAAAAAAAAAGCCTGGGTGCAGTGGCTCATGCCTATTATTCCAACACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGTTAGGAGTTCGAGATCAGCCTGGCCATCATGGTGAAACCTCATCTCTATTAAAAATAAAAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCACTGAGCCGAGATCGCACCACTGCACTCCACCCTGGGTAACAGAGCGAGGCTCTGTCTCAAAAATAAAAATAAAAATAAAAAAAATAAAAAGAGAGAGACAGAAAAGGAAACTCAGGGGGCCAGGGCTTAAGGGGTTGGGAAGATGCGAGAGTCTTAAATTTGGTTCCTTGCTTCTTTGGGCCAGGACTCAGAGAGCCCCACTGACACATATGCCCATCTGTCTTGAACCTTAACAAATTGCAAAGGCCACAGGCTATTCTACAGGCCACGGGAGCCCCCCCAAATGCAATGTCATGGGGGTGTTCCTGAAGTAGAGGACCCTCATAAGGCCTCTGAGGCCCAGAGAGGGGCAGCTCCGGGCCTAAGGTCACACAGCCAGTCAACAGAGACCTAATCCAGAGGTCTGCGGGCAGGAGCTATGAAAAGGACAGGGAGTGGTGTTTGCCCTCTGGGTGAGCAGTGAAGGCATGAGTCTCACACCCCCGGCTTCCGCTCCACAGCATGTCCAGCTGGGGGCCCAGGGCGCTGAATGATGGCCGGTCCTGTGGGCTAGGGGCCCAGCACAGCTTCATGAGCTCGTGAACCTGAGGGGCGGGGGACAGATAATGGGGTCGTGCCTGAGCAGTCCAAAGGACACAACTCCCATTCAGCGTATTTGTTTTTGTTTTTTTGAGACGGAGTCTAGCTCTGTTGTCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATTCCTGATCTCAGGTGATCCACCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCACTCATTCAGTTTTAAAACACAAATTAAATTCCATCCCATCTCTGCTCCAAAAACTCCCATGGCTCCCTATGGATCTTACTTATTTATTTATTTGAGATAAAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAGTGGTGCGATCTCGGCTCACTGCAAACCCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCACACACCGCCACACCTGGCTAAGTCTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCATGTAATCCACCCACCTCGGCCTCCTAAAGGGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCCTTATGGATTTTACAACACACTTCTCCTTTCGAGACTACCCTGACCAACATGGAGAAACCCCATCTTAACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTACAGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGTCTAAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGTGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGCCAACAAGAGCAAAACCACGTCTCAAAAAAAAAAAAACAACAAAAAAACACCACCTCTCCCTGATGCCCTCCTTCGCTCATCTCCATCCCTCCTTCCCTCATTTGTTCCGGGCAGTCACATCTGCCTCCATCGCACTGGTGCTTAAAGGCACCCAGCTCATTACCTCCCCAAGGCCTTTTTCCCTTCCGTGTCCTCCACTGGAAATTTCTTCTCCTAGCTTTACTCATGGGTAGGCTCCTCCTCCTTCCAGCGTCGGCCCCGTAAGAGGCCCTCTTTGACCACCCCCACCCCACCATTTCCCTCTGTTCATCTCTTTCAAGGCACTTATCACTACCATAATTTTGTCTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTGTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTACAATAATGGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCTGGTAGCTGAAACCACAGGTGCATGTCACCACACCGGCTATTGCTTGTATTGTTTGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGTTCCAGTGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGAAACCACAGGTGCATGTCACCACACCGGCTATTGCTTGT
|
CCCCACAGCCTCGCTCCCCCAACCTGGCCTTGTCCTCTGACCACCGGGAGAGCATCCTGTTCCTTCCCCACCCACAGAGAGCCTGTAATCAGCTCCCCCAGGCTGCAGCCAAGGCCAGCAGCTGGGGCTGGGAGTGAGGGGGCTCTGTCCTTGAGGGCCCCAGCCAAGCCCCACCCAGTGGTCCTCCTCCACCAGCCTGCCCTGGGGCCCCCACAGTGGCTCCCTGAGAGGTCTCTGGCCCACAGCTCTAACCGCATCCCTCCCAGCTCACACACCCTCTGAGGCTCCCCATCGCCCCAAGTCCAGCACAAAATCTTTTCCACTGAATTCCTTTATTCAGTCAACAAACATTTCCAGAGCCCCCTCTGTACTGAGGCCTCAGCCCAGCCCCCAAGGAACCCTGAGGTCAGGGGAGACAGCTGGACACAGACACTTCCCCAGCCCCAGGGCCAGAGTGGGGCTGGAGGGAAGGACAGGGCTACAGTAGTAGTGGGGGTATATGAGGGAAGGCTGCAAGGATGTGGTAGCTGGAGTTTTGAGAGATGGATAAGAGTTTTCCAAGGAGGCAAAAGTGGCAGAAAAGCTTTGCAGGTGAGGAGGAGCAGCAGAAGCTTAACCTGCATGAGAATCCCTCTCACCAGTCAGAAAGTTGACCCTGCACAGCCAAGGGGTAAGCTCTGACCATTTTGCAGGGGACAGAACTGAGACCCAGAGAGGGAAAGGAACTTGCCCACTGTCACACTGCATGGAAGGGGCAAAACTGTAGGCTCCAATACTTGGGCTCTTAACCTCCTTACTCTGAGCCTTCTCACGCTTGGCATGCTGTTCCCTCTGCCAGGAATGCCTTTCCTTCCCTTGATTGCGTGAAAAGTTCCTGCCAGGTTTGGTGTCATCCCTTTGTGCCCCTTGTAGGGTGAGGACAGAAAGGGTCCCATTGGACAGGTGGGAAAACTGAAGCCCTAGGACACTCAGATACCATTAGGGTGGACTGGGACCCCAGCCTTTCCTGCCCCCTTTCAGGATCCCAAAGAGATACACGGGCTCCCCTAAAAGGCAGAGTCCCAGCCACAGCAACTGCTCTTGTCCTTGGCTTCCTCCAGAGAAACAGAGATCGGGGAGCAGAAGTCAGATCATACATTTAAAGCTACATGAGGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGAGATGGAAACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGAGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCTAGATTGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGCTACATGAATGTCCCCATTGGAAATAAGACAGGAAACTCAAAACTAGGTGCTGTAGTCCCAGCTATTTAGGAGGATAAGGCAGGAGGATCACTGTAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGCAAGATCCTGTCTCTTAAAAATAATAATAATAAATTTAAAAAAAAAAAAGCCTGGGTGCAGTGGCTCATGCCTATTATTCCAACACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGTTAGGAGTTCGAGATCAGCCTGGCCATCATGGTGAAACCTCATCTCTATTAAAAATAAAAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCAGAGGTTGCACTGAGCCGAGATCGCACCACTGCACTCCACCCTGGGTAACAGAGCGAGGCTCTGTCTCAAAAATAAAAATAAAAATAAAAAAAATAAAAAGAGAGAGACAGAAAAGGAAACTCAGGGGGCCAGGGCTTAAGGGGTTGGGAAGATGCGAGAGTCTTAAATTTGGTTCCTTGCTTCTTTGGGCCAGGACTCAGCCCCACTGACACATATGCCCATCTGTCTTGAACCTTAACAAATTGCAAAGGCCACAGGCTATTCTACAGGCCACGGGAGCCCCCCCAAATGCAATGTCATGGGGGTGTTCCTGAAGTAGAGGACCCTCATAAGGCCTCTGAGGCCCAGAGAGGGGCAGCTCCGGGCCTAAGGTCACACAGCCAGTCAACAGAGACCTAATCCAGAGGTCTGCGGGCAGGAGCTATGAAAAGGACAGGGAGTGGTGTTTGCCCTCTGGGTGAGCAGTGAAGGCATGAGTCTCACACCCCCGGCTTCCGCTCCACAGCATGTCCAGCTGGGGGCCCAGGGCGCTGAATGATGGCCGGTCCTGTGGGCTAGGGGCCCAGCACAGCTTCATGAGCTCGTGAACCTGAGGGGCGGGGGACAGATAATGGGGTCGTGCCTGAGCAGTCCAAAGGACACAACTCCCATTCAGCGTATTTGTTTTTGTTTTTTTGAGACGGAGTCTAGCTCTGTTGTCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTATCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAATTCCTGATCTCAGGTGATCCACCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCACTCATTCAGTTTTAAAACACAAATTAAATTCCATCCCATCTCTGCTCCAAAAACTCCCATGGCTCCCTATGGATCTTACTTATTTATTTATTTGAGATAAAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAGTGGTGCGATCTCGGCTCACTGCAAACCCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCACACACCGCCACACCTGGCTAAGTCTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCATGTAATCCACCCACCTCGGCCTCCTAAAGGGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCCTTATGGATTTTACAACACACTTCTCCTTTCGAGACTACCCTGACCAACATGGAGAAACCCCATCTTAACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTACAGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGTCTAAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGTGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGCCAACAAGAGCAAAACCACGTCTCAAAAAAAAAAAAACAACAAAAAAACACCACCTCTCCCTGATGCCCTCCTTCGCTCATCTCCATCCCTCCTTCCCTCATTTGTTCCGGGCAGTCACATCTGCCTCCATCGCACTGGTGCTTAAAGGCACCCAGCTCATTACCTCCCCAAGGCCTTTTTCCCTTCCGTGTCCTCCACTGGAAATTTCTTCTCCTAGCTTTACTCATGGGTAGGCTCCTCCTCCTTCCAGCGTCGGCCCCGTAAGAGGCCCTCTTTGACCACCCCCACCCCACCATTTCCCTCTGTTCATCTCTTTCAAGGCACTTATCACTACCATAATTTTGTCTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTGTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTACAATAATGGCTCACTGCAGCCTTAACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCTGGTAGCTGAAACCACAGGTGCATGTCACCACACCGGCTATTGCTTGTATTGTTTGTAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGTTCCAGTGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGAAACCACAGGTGCATGTCACCACACCGGCTATTGCTTGTNNNN
|
benign
| 301,207 |
Evaluate the clinical significance of the mutation at chromosome 19, position 17830513 in gene JAK3 (Janus kinase 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Severe_combined_immunodeficiency_disease', 'T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency']
|
GGCTGGTCTTGAACTCCTGGGTTCCAGTGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGAAACCACAGGTGCATGTCACCACACCGGCTATTGCTTGTATTGTTTGTAGAGACAAGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCCAGTGATCCTTCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCATCGTGCCCAGCCTAGAATGTTCTTATCAGATTTTGCTAGTTACTGGGAGGACAGGGTCTTCAGCACCCAACAAGTCCTGGCACACAGTTGGCACTCAATAAATGTTTTTGGCCTGAGCAAATTAATTTATCAATGACCAACTGCATGTCAGACACTTCCACAAAGGTTATGATTATATGATTATAAACCATGAGAGGGTGGGATGTGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGACCCCACGAGCTCAAGACCAGCCTAGGCAACACAGAGAGACCCCATCTCTTTAAAAAAATTTTTTAAAATTAGCCAGGCACAGTGGCTTATGCCTGTAAATCTCAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCGAGACCTTGTCTCTTAAAAAAATTATTTTTATCTTATTTGTTTGTTTATTTATTTATTTATTTATTTTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCTTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCGCAAGTAGCTGAGATCACAGGCACCCACACATGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTGTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCCGGTGATCTGACCGCCTCAGCCTTCAAAAGTGCTGGGTTTACAGGTGTGAGCCACCACACCTGGCCAAAATTATTTTTAAATTAGCCAGGCATGGTGATGTACACCTATAGTCCCAGCACTTTGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCACGAGTTCAAGACCAGCCTGGGCAATATAGTGAGGCTCCCATCTCTAAAAAATTATTTTTAAATTAGCCAAGTGTGGTGGTGTACACCTGTAGCTCCTGCTACTAGAGACACTGAACTAGGGGAATCACTTGAGCTCAGGAGTTGGAGGCTGCAGTGAGCTATAATTGCACCCCAGCCTGGGCAACAGAGTGAGCCCCCATCTATAAAAAAGAAAGAAAGAAAGAAAAAAAAAAACCATGAACGTCACCACCATTTATGGAGCATCGACTGTGTGCTCGGCTTTGAGCTGAGCCCTCATAGGCACAGGTGTTCAGGAGTCTAATCTTCCCTCACCCTATAAGGCATTACTATTCTCATTTTGGAAAAGGGTAAACTGAGGCTCTGAAAGTGCTCTGACTTGCCACACAGTGAGAGAGTAGCCAAGTGGGGGCCAGGATCCTCATCGGCCTCACACTCTAGCCTTTCTTCTCAGTACAGAGACTCAGGCGCCAGCTGGCTTGCCCGAGACCCCGGCCCAATCTACAGACTGGGAAACTGAGGCTAGCCCTGCGGCGCTCACCTCAGCAGGGCAGGCAGGAGGCGCCGGCAGCCTCTGGCCCTCCTCCAGCAGTTCCAAGAGGCGGCAGAGGGCGGGGACATCCCGCTCACATCCCATCATCCGCAGGAACTCCTGGAGCCAAGGAGGAGCGCATGTGGTGGGGGAGGAGCCTCCGTGGGTGGAGGGGGAGGGGCCACCCGTGGTGGGGGTAGGGGCCATCTGTGATGGAGCGGGGAGGGGCTGCCTGAACCGTGAAGGGGTCAGAAAGGTGAGGAAGCGTCCTCCCCACTGGGGCCTATGATGCTGGGACCAGGTGACCCCATGCTAAAGAGGGACGCAGGCGCAGACAGGTTGGAGATTGGCCACGAGGGGCGTGGAGGGAGAAGAAGGCTGGGGGCTCTGGGAAGCCGACTCACGGCCGAGGGGCTGCAGCTTTTGTCGCAGTAGGTGAAGAGCTCGTACAGGACGACCCCGAAGCTCCAGACGTCTGACTGGCGAGAGAAGATGTTGTCCGAGAGGGATTCGGGGGCATACCTGGAGAGGGGACAAGGTCTTGAGATGCGAGGGTGTAGAAAGGACAGGAAGAGGGGGGCAGCCTTGGAATGGGGAACTGGTCAGGGTAGGTGGGGACTGTGAGCAGGTCAGTCCCGTCTCCAGGGTCTCGGTTTCCCTGGCTGTGGGATAGGTGGATTCTCCAGCCCTGGGAGGTGCCTGGGAAGAGCTAAGGCTGTGGGGAGGAGGCGGGGGCAGCACGGAGGGGCGGAGATGGGGGCGGGGCCAGAGCCGTGGGAGGGGGAGGGGCCAGAACTGGGCGGGGGGAAGGGCGGAACTAAGAGGGGGCCAGCCCTGAGGGGCGGAGCCAGCGTGTTGGAGGGGTGGGGTTCTGAAGCTTGGGCGGGGCGAGAGCTGAGAGAAGGGCGGGGCTAAGGCTGGGGGCCGCTGACAGCAGGGCAGCGGGAGACAGAGGAGCCAGTGCTGTTGAGGGGGCGGGGCTCTGGGGAGTGGGAGGGGCCAAAGCTGCAGCGGAGGAAGGGCGGGGCTAAGGCTGGGGAGCAAAGCAGCGGGAGGGGGCGGGGGCATGGCTGGGGGCGGAGCCAGAGCCGTGGGGAATAGGGGCGGAGCCTAGGCGCGGGTTCCCCACCAGAAAATGGGGCTCTGGCCTGGCTCGCGGACCACGTAGTAGTCTTTGTCAAGCGGCAGCAGCTTAGCTAGGCCGAAGTCAGCGATCTTGACGTGTGCCTCGCTCTCCACGAGGATGTTTCGGGCGGCCAGGTCGCGGTGCACGCAGCGGCGGGAGCCCAGGTACTCCATGCCCTGCGGGCGGGCGGTGTGAGCGTGCAGAGAGGATCCCAGGATAATCCGGCAGGTACCCCAAGCGTGACCTGGCACCCCAACCCAGACCCCAACTATAACCCTACCCCCGAGCCATCCTCCACTGAAGTTCTGATCCTGAGCCCTAAGCCAACCCCACCACTCCCGAGACCTGGACCCCAAACCACTCCTCAGCCTTCACCGCGACCTCCAAGCAGACCCCTGCCCAGGCCGTGCCAGCTGAATCCCCACAAGTCCCGGGGCGCCCCCTCGCACCTTGCAGATCTGCGAGGAATAGAGAAGGAGGCGGCTGGCATCGAGGCGCGCGCGGTGCCGCTGCAGGAAGTCGCGCAAGCAGCCGCTGGGCAGGTACTCCATGACCAGCCGCAGGCTCTGGCGGCCTGGAGAAGGCAGGATCTGTCACAGCAGGGCCCAGCCCTGCTCGTCCCCCCATTCTTCCCCCCTTTCACAGTGGGACCTTGTGTCCCTCTCGACCTCAGTTTTGCTGACTGTAATATGGGAACCGCAACAATGACACATTGCTAATATCTCTTGAGTACTTTCTACAACATACATTGATGTGTTTATATATCACGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGCCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACCCATCTCCACTAAAAACACAAAAATTAGCCGGGTGTGGTGGCACGCTCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGAAGGCAGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCCTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAACAAACAAACAACAACAACAACAAAGTAAATATCACAATGGCCCATTTTTCAGCTGGAGAAACTGAGGCTCAGAAAAGTTAAGGTTTCACAACTGGTAAGGGGTAGAGTCAGGATTCAAACCTGTAACCCATGTGAATCTGGATCAATAATCACGTTCCCAGCCTACCTAAAGTGGCCTGGCAGGAGGGTAAGAATGTGCACTTTGAAAAGCACCCATACGTCTTGGTTCACTCATCCGGGAGCTGGCTCACCCGGGCCATAGCTGACACCACGATACTTGACAATGAAATCAC
|
GGCTGGTCTTGAACTCCTGGGTTCCAGTGATCCTCCTGCCTCAGCCTCCCTAGTAGCTGAAACCACAGGTGCATGTCACCACACCGGCTATTGCTTGTATTGTTTGTAGAGACAAGGTCTCACTACGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCCAGTGATCCTTCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCATCGTGCCCAGCCTAGAATGTTCTTATCAGATTTTGCTAGTTACTGGGAGGACAGGGTCTTCAGCACCCAACAAGTCCTGGCACACAGTTGGCACTCAATAAATGTTTTTGGCCTGAGCAAATTAATTTATCAATGACCAACTGCATGTCAGACACTTCCACAAAGGTTATGATTATATGATTATAAACCATGAGAGGGTGGGATGTGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGACCCCACGAGCTCAAGACCAGCCTAGGCAACACAGAGAGACCCCATCTCTTTAAAAAAATTTTTTAAAATTAGCCAGGCACAGTGGCTTATGCCTGTAAATCTCAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCGAGACCTTGTCTCTTAAAAAAATTATTTTTATCTTATTTGTTTGTTTATTTATTTATTTATTTATTTTGAGATGGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAACCTTCCCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCGCAAGTAGCTGAGATCACAGGCACCCACACATGGGTAATTTTTGTATTTTTAGTAGAGACAGGGTGTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCCGGTGATCTGACCGCCTCAGCCTTCAAAAGTGCTGGGTTTACAGGTGTGAGCCACCACACCTGGCCAAAATTATTTTTAAATTAGCCAGGCATGGTGATGTACACCTATAGTCCCAGCACTTTGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCCACGAGTTCAAGACCAGCCTGGGCAATATAGTGAGGCTCCCATCTCTAAAAAATTATTTTTAAATTAGCCAAGTGTGGTGGTGTACACCTGTAGCTCCTGCTACTAGAGACACTGAACTAGGGGAATCACTTGAGCTCAGGAGTTGGAGGCTGCAGTGAGCTATAATTGCACCCCAGCCTGGGCAACAGAGTGAGCCCCCATCTATAAAAAAGAAAGAAAGAAAGAAAAAAAAAAACCATGAACGTCACCACCATTTATGGAGCATCGACTGTGTGCTCGGCTTTGAGCTGAGCCCTCATAGGCACAGGTGTTCAGGAGTCTAATCTTCCCTCACCCTATAAGGCATTACTATTCTCATTTTGGAAAAGGGTAAACTGAGGCTCTGAAAGTGCTCTGACTTGCCACACAGTGAGAGAGTAGCCAAGTGGGGGCCAGGATCCTCATCGGCCTCACACTCTAGCCTTTCTTCTCAGTACAGAGACTCAGGCGCCAGCTGGCTTGCCCGAGACCCCGGCCCAATCTACAGACTGGGAAACTGAGGCTAGCCCTGCGGCGCTCACCTCAGCAGGGCAGGCAGGAGGCGCCGGCAGCCTCTGGCCCTCCTCCAGCAGTTCCAAGAGGCGGCAGAGGGCGGGGACATCCCGCTCACATCCCATCATCCGCAGGAACTCCTGGAGCCAAGGAGGAGCGCATGTGGTGGGGGAGGAGCCTCCGTGGGTGGAGGGGGAGGGGCCACCCGTGGTGGGGGTAGGGGCCATCTGTGATGGAGCGGGGAGGGGCTGCCTGAACCGTGAAGGGGTCAGAAAGGTGAGGAAGCGTCCTCCCCACTGGGGCCTATGATGCTGGGACCAGGTGACCCCATGCTAAAGAGGGACGCAGGCGCAGACAGGTTGGAGATTGGCCACGAGGGGCGTGGAGGGAGAAGAAGGCTGGGGGCTCTGGGAAGCCGACTCACGGCCGAGGGGCTTGCAGCTTTTGTCGCAGTAGGTGAAGAGCTCGTACAGGACGACCCCGAAGCTCCAGACGTCTGACTGGCGAGAGAAGATGTTGTCCGAGAGGGATTCGGGGGCATACCTGGAGAGGGGACAAGGTCTTGAGATGCGAGGGTGTAGAAAGGACAGGAAGAGGGGGGCAGCCTTGGAATGGGGAACTGGTCAGGGTAGGTGGGGACTGTGAGCAGGTCAGTCCCGTCTCCAGGGTCTCGGTTTCCCTGGCTGTGGGATAGGTGGATTCTCCAGCCCTGGGAGGTGCCTGGGAAGAGCTAAGGCTGTGGGGAGGAGGCGGGGGCAGCACGGAGGGGCGGAGATGGGGGCGGGGCCAGAGCCGTGGGAGGGGGAGGGGCCAGAACTGGGCGGGGGGAAGGGCGGAACTAAGAGGGGGCCAGCCCTGAGGGGCGGAGCCAGCGTGTTGGAGGGGTGGGGTTCTGAAGCTTGGGCGGGGCGAGAGCTGAGAGAAGGGCGGGGCTAAGGCTGGGGGCCGCTGACAGCAGGGCAGCGGGAGACAGAGGAGCCAGTGCTGTTGAGGGGGCGGGGCTCTGGGGAGTGGGAGGGGCCAAAGCTGCAGCGGAGGAAGGGCGGGGCTAAGGCTGGGGAGCAAAGCAGCGGGAGGGGGCGGGGGCATGGCTGGGGGCGGAGCCAGAGCCGTGGGGAATAGGGGCGGAGCCTAGGCGCGGGTTCCCCACCAGAAAATGGGGCTCTGGCCTGGCTCGCGGACCACGTAGTAGTCTTTGTCAAGCGGCAGCAGCTTAGCTAGGCCGAAGTCAGCGATCTTGACGTGTGCCTCGCTCTCCACGAGGATGTTTCGGGCGGCCAGGTCGCGGTGCACGCAGCGGCGGGAGCCCAGGTACTCCATGCCCTGCGGGCGGGCGGTGTGAGCGTGCAGAGAGGATCCCAGGATAATCCGGCAGGTACCCCAAGCGTGACCTGGCACCCCAACCCAGACCCCAACTATAACCCTACCCCCGAGCCATCCTCCACTGAAGTTCTGATCCTGAGCCCTAAGCCAACCCCACCACTCCCGAGACCTGGACCCCAAACCACTCCTCAGCCTTCACCGCGACCTCCAAGCAGACCCCTGCCCAGGCCGTGCCAGCTGAATCCCCACAAGTCCCGGGGCGCCCCCTCGCACCTTGCAGATCTGCGAGGAATAGAGAAGGAGGCGGCTGGCATCGAGGCGCGCGCGGTGCCGCTGCAGGAAGTCGCGCAAGCAGCCGCTGGGCAGGTACTCCATGACCAGCCGCAGGCTCTGGCGGCCTGGAGAAGGCAGGATCTGTCACAGCAGGGCCCAGCCCTGCTCGTCCCCCCATTCTTCCCCCCTTTCACAGTGGGACCTTGTGTCCCTCTCGACCTCAGTTTTGCTGACTGTAATATGGGAACCGCAACAATGACACATTGCTAATATCTCTTGAGTACTTTCTACAACATACATTGATGTGTTTATATATCACGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGCCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACCCATCTCCACTAAAAACACAAAAATTAGCCGGGTGTGGTGGCACGCTCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGAAGGCAGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCCTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAACAAACAAACAACAACAACAACAAAGTAAATATCACAATGGCCCATTTTTCAGCTGGAGAAACTGAGGCTCAGAAAAGTTAAGGTTTCACAACTGGTAAGGGGTAGAGTCAGGATTCAAACCTGTAACCCATGTGAATCTGGATCAATAATCACGTTCCCAGCCTACCTAAAGTGGCCTGGCAGGAGGGTAAGAATGTGCACTTTGAAAAGCACCCATACGTCTTGGTTCACTCATCCGGGAGCTGGCTCACCCGGGCCATAGCTGACACCACGATACTTGACAATGAAATCA
|
pathogenic
| 301,222 |
Chromosome 19, position 17831718, gene JAK3 (Janus kinase 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Severe_combined_immunodeficiency_disease', 'T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency']
|
GAATCACTTGAGCTCAGGAGTTGGAGGCTGCAGTGAGCTATAATTGCACCCCAGCCTGGGCAACAGAGTGAGCCCCCATCTATAAAAAAGAAAGAAAGAAAGAAAAAAAAAAACCATGAACGTCACCACCATTTATGGAGCATCGACTGTGTGCTCGGCTTTGAGCTGAGCCCTCATAGGCACAGGTGTTCAGGAGTCTAATCTTCCCTCACCCTATAAGGCATTACTATTCTCATTTTGGAAAAGGGTAAACTGAGGCTCTGAAAGTGCTCTGACTTGCCACACAGTGAGAGAGTAGCCAAGTGGGGGCCAGGATCCTCATCGGCCTCACACTCTAGCCTTTCTTCTCAGTACAGAGACTCAGGCGCCAGCTGGCTTGCCCGAGACCCCGGCCCAATCTACAGACTGGGAAACTGAGGCTAGCCCTGCGGCGCTCACCTCAGCAGGGCAGGCAGGAGGCGCCGGCAGCCTCTGGCCCTCCTCCAGCAGTTCCAAGAGGCGGCAGAGGGCGGGGACATCCCGCTCACATCCCATCATCCGCAGGAACTCCTGGAGCCAAGGAGGAGCGCATGTGGTGGGGGAGGAGCCTCCGTGGGTGGAGGGGGAGGGGCCACCCGTGGTGGGGGTAGGGGCCATCTGTGATGGAGCGGGGAGGGGCTGCCTGAACCGTGAAGGGGTCAGAAAGGTGAGGAAGCGTCCTCCCCACTGGGGCCTATGATGCTGGGACCAGGTGACCCCATGCTAAAGAGGGACGCAGGCGCAGACAGGTTGGAGATTGGCCACGAGGGGCGTGGAGGGAGAAGAAGGCTGGGGGCTCTGGGAAGCCGACTCACGGCCGAGGGGCTGCAGCTTTTGTCGCAGTAGGTGAAGAGCTCGTACAGGACGACCCCGAAGCTCCAGACGTCTGACTGGCGAGAGAAGATGTTGTCCGAGAGGGATTCGGGGGCATACCTGGAGAGGGGACAAGGTCTTGAGATGCGAGGGTGTAGAAAGGACAGGAAGAGGGGGGCAGCCTTGGAATGGGGAACTGGTCAGGGTAGGTGGGGACTGTGAGCAGGTCAGTCCCGTCTCCAGGGTCTCGGTTTCCCTGGCTGTGGGATAGGTGGATTCTCCAGCCCTGGGAGGTGCCTGGGAAGAGCTAAGGCTGTGGGGAGGAGGCGGGGGCAGCACGGAGGGGCGGAGATGGGGGCGGGGCCAGAGCCGTGGGAGGGGGAGGGGCCAGAACTGGGCGGGGGGAAGGGCGGAACTAAGAGGGGGCCAGCCCTGAGGGGCGGAGCCAGCGTGTTGGAGGGGTGGGGTTCTGAAGCTTGGGCGGGGCGAGAGCTGAGAGAAGGGCGGGGCTAAGGCTGGGGGCCGCTGACAGCAGGGCAGCGGGAGACAGAGGAGCCAGTGCTGTTGAGGGGGCGGGGCTCTGGGGAGTGGGAGGGGCCAAAGCTGCAGCGGAGGAAGGGCGGGGCTAAGGCTGGGGAGCAAAGCAGCGGGAGGGGGCGGGGGCATGGCTGGGGGCGGAGCCAGAGCCGTGGGGAATAGGGGCGGAGCCTAGGCGCGGGTTCCCCACCAGAAAATGGGGCTCTGGCCTGGCTCGCGGACCACGTAGTAGTCTTTGTCAAGCGGCAGCAGCTTAGCTAGGCCGAAGTCAGCGATCTTGACGTGTGCCTCGCTCTCCACGAGGATGTTTCGGGCGGCCAGGTCGCGGTGCACGCAGCGGCGGGAGCCCAGGTACTCCATGCCCTGCGGGCGGGCGGTGTGAGCGTGCAGAGAGGATCCCAGGATAATCCGGCAGGTACCCCAAGCGTGACCTGGCACCCCAACCCAGACCCCAACTATAACCCTACCCCCGAGCCATCCTCCACTGAAGTTCTGATCCTGAGCCCTAAGCCAACCCCACCACTCCCGAGACCTGGACCCCAAACCACTCCTCAGCCTTCACCGCGACCTCCAAGCAGACCCCTGCCCAGGCCGTGCCAGCTGAATCCCCACAAGTCCCGGGGCGCCCCCTCGCACCTTGCAGATCTGCGAGGAATAGAGAAGGAGGCGGCTGGCATCGAGGCGCGCGCGGTGCCGCTGCAGGAAGTCGCGCAAGCAGCCGCTGGGCAGGTACTCCATGACCAGCCGCAGGCTCTGGCGGCCTGGAGAAGGCAGGATCTGTCACAGCAGGGCCCAGCCCTGCTCGTCCCCCCATTCTTCCCCCCTTTCACAGTGGGACCTTGTGTCCCTCTCGACCTCAGTTTTGCTGACTGTAATATGGGAACCGCAACAATGACACATTGCTAATATCTCTTGAGTACTTTCTACAACATACATTGATGTGTTTATATATCACGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGCCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACCCATCTCCACTAAAAACACAAAAATTAGCCGGGTGTGGTGGCACGCTCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGAAGGCAGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCCTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAACAAACAAACAACAACAACAACAAAGTAAATATCACAATGGCCCATTTTTCAGCTGGAGAAACTGAGGCTCAGAAAAGTTAAGGTTTCACAACTGGTAAGGGGTAGAGTCAGGATTCAAACCTGTAACCCATGTGAATCTGGATCAATAATCACGTTCCCAGCCTACCTAAAGTGGCCTGGCAGGAGGGTAAGAATGTGCACTTTGAAAAGCACCCATACGTCTTGGTTCACTCATCCGGGAGCTGGCTCACCCGGGCCATAGCTGACACCACGATACTTGACAATGAAATCACTGTGCAGTGCTTTGAGGATCTGAATCTCCCGCTGAAAGTCCCTCTGCTGGTCTGGCCCGCTGTGCTGCAGCTGTTTCACGGCCACCAGGGCACCTGTATTGTCGCCTAGCGGGTCATAGCGGCACAGCTCCACGCTGCCAAAGTTGCCCTGGGGGATAGCGGGACTGATGTCCAGGCACCTGGATGCTGCCCTGCCCTCTCCAACCCACCCTGGCCCTGCCCACCTTACCTTGCCCAGCTGTGAGATGTACTTGAGGTGTCTCTCCTCGAAGATCGTGGGGTCTTGGCAGGCATAGAGCTGGGCACCATTCCACAGCCCATCACGAGGTGCCAGGGCACCAGGTGTGGGGTCTGAGAGGAGCTCATAGTCTGGGGTGGGGGCATGGGCAGTGGTAAGCAGCGCCTCTCATCCTGGGCCCCACTCCTGAGTTGACTTGCTGTGCAACCTCCATCTGCATATTGACCCTCTCTGTGCATTATGGCAGGGCCATTGCAAGCCAAAGGGTACCTTGTGGAGACTGGAAAAAGGTGTCTCCCACTCTGTCCCAGGCAAAGGAAGCCTCCTCGTGCAGTGCACACCCTGTGCAACTCCACATGGCTACAAAGATGGAGGACATAATGAGAACTCATTTCCCCAGTTCCACTGCTATGAAATGTGGCCACATGACTGAGCTCAGGCTGATGGACAAGATATGCTGGGTGCCCCTCCAGTCCTGACCCATGGAAACCTAATACGGGGCCCTCCACACTCTCTCTTTTATCTGCAGAGGATCCAACGGGGACCCAACGCCTGAGGTGAGTGCAGCCACTAAGTGAGAGGTTCCTGTGGGCCTGGACACCCTCATTGAATGAAGACTAAATATCACACTGGGCATGGTTGTGTGTGCCTGTAATCCCAGCTATTTGGGAGACTAAGGCAGGAGGATTGCTTGAGCCAGTAATTCAAGACCAGCCTGGGGAACATAGCAAAACCCCATCACAGAAAAAAAAAAAAAAAAAAAAAAAATCCAGCCTGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTGGGTGGCTGAGGTGGACGGATCTCTTTGAGACCAGGAGTTCAAGACTAGCCCGGCCAACATGGCAAAACCCTGTCTTTACTAAAAAATACAAAAATTTAGCCGTGTTTGGTGGCACGCCCTTGTAATCCTAGCTACTTGGGAGTCTGAGGCGGGAGAA
|
GAATCACTTGAGCTCAGGAGTTGGAGGCTGCAGTGAGCTATAATTGCACCCCAGCCTGGGCAACAGAGTGAGCCCCCATCTATAAAAAAGAAAGAAAGAAAGAAAAAAAAAAACCATGAACGTCACCACCATTTATGGAGCATCGACTGTGTGCTCGGCTTTGAGCTGAGCCCTCATAGGCACAGGTGTTCAGGAGTCTAATCTTCCCTCACCCTATAAGGCATTACTATTCTCATTTTGGAAAAGGGTAAACTGAGGCTCTGAAAGTGCTCTGACTTGCCACACAGTGAGAGAGTAGCCAAGTGGGGGCCAGGATCCTCATCGGCCTCACACTCTAGCCTTTCTTCTCAGTACAGAGACTCAGGCGCCAGCTGGCTTGCCCGAGACCCCGGCCCAATCTACAGACTGGGAAACTGAGGCTAGCCCTGCGGCGCTCACCTCAGCAGGGCAGGCAGGAGGCGCCGGCAGCCTCTGGCCCTCCTCCAGCAGTTCCAAGAGGCGGCAGAGGGCGGGGACATCCCGCTCACATCCCATCATCCGCAGGAACTCCTGGAGCCAAGGAGGAGCGCATGTGGTGGGGGAGGAGCCTCCGTGGGTGGAGGGGGAGGGGCCACCCGTGGTGGGGGTAGGGGCCATCTGTGATGGAGCGGGGAGGGGCTGCCTGAACCGTGAAGGGGTCAGAAAGGTGAGGAAGCGTCCTCCCCACTGGGGCCTATGATGCTGGGACCAGGTGACCCCATGCTAAAGAGGGACGCAGGCGCAGACAGGTTGGAGATTGGCCACGAGGGGCGTGGAGGGAGAAGAAGGCTGGGGGCTCTGGGAAGCCGACTCACGGCCGAGGGGCTGCAGCTTTTGTCGCAGTAGGTGAAGAGCTCGTACAGGACGACCCCGAAGCTCCAGACGTCTGACTGGCGAGAGAAGATGTTGTCCGAGAGGGATTCGGGGGCATACCTGGAGAGGGGACAAGGTCTTGAGATGCGAGGGTGTAGAAAGGACAGGAAGAGGGGGGCAGCCTTGGAATGGGGAACTGGTCAGGGTAGGTGGGGACTGTGAGCAGGTCAGTCCCGTCTCCAGGGTCTCGGTTTCCCTGGCTGTGGGATAGGTGGATTCTCCAGCCCTGGGAGGTGCCTGGGAAGAGCTAAGGCTGTGGGGAGGAGGCGGGGGCAGCACGGAGGGGCGGAGATGGGGGCGGGGCCAGAGCCGTGGGAGGGGGAGGGGCCAGAACTGGGCGGGGGGAAGGGCGGAACTAAGAGGGGGCCAGCCCTGAGGGGCGGAGCCAGCGTGTTGGAGGGGTGGGGTTCTGAAGCTTGGGCGGGGCGAGAGCTGAGAGAAGGGCGGGGCTAAGGCTGGGGGCCGCTGACAGCAGGGCAGCGGGAGACAGAGGAGCCAGTGCTGTTGAGGGGGCGGGGCTCTGGGGAGTGGGAGGGGCCAAAGCTGCAGCGGAGGAAGGGCGGGGCTAAGGCTGGGGAGCAAAGCAGCGGGAGGGGGCGGGGGCATGGCTGGGGGCGGAGCCAGAGCCGTGGGGAATAGGGGCGGAGCCTAGGCGCGGGTTCCCCACCAGAAAATGGGGCTCTGGCCTGGCTCGCGGACCACGTAGTAGTCTTTGTCAAGCGGCAGCAGCTTAGCTAGGCCGAAGTCAGCGATCTTGACGTGTGCCTCGCTCTCCACGAGGATGTTTCGGGCGGCCAGGTCGCGGTGCACGCAGCGGCGGGAGCCCAGGTACTCCATGCCCTGCGGGCGGGCGGTGTGAGCGTGCAGAGAGGATCCCAGGATAATCCGGCAGGTACCCCAAGCGTGACCTGGCACCCCAACCCAGACCCCAACTATAACCCTACCCCCGAGCCATCCTCCACTGAAGTTCTGATCCTGAGCCCTAAGCCAACCCCACCACTCCCGAGACCTGGACCCCAAACCACTCCTCAGCCTTCACCGCGACCTCCAAGCAGACCCCTGCCCAGGCCGTGCCAGCTGAATCCCCACAAGTCCCGGGGCGCCCCCTCGCACCTTGCAGATCTGCGAGGAATAGAGAAGGAGGCGGCTGGCATCGAGGCGCGCGGTGCCGCTGCAGGAAGTCGCGCAAGCAGCCGCTGGGCAGGTACTCCATGACCAGCCGCAGGCTCTGGCGGCCTGGAGAAGGCAGGATCTGTCACAGCAGGGCCCAGCCCTGCTCGTCCCCCCATTCTTCCCCCCTTTCACAGTGGGACCTTGTGTCCCTCTCGACCTCAGTTTTGCTGACTGTAATATGGGAACCGCAACAATGACACATTGCTAATATCTCTTGAGTACTTTCTACAACATACATTGATGTGTTTATATATCACGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGCCTCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACCCATCTCCACTAAAAACACAAAAATTAGCCGGGTGTGGTGGCACGCTCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGAAGGCAGAGGTTGCAGTGAGCCGAGATTGAGCCACTGCCTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAACAAACAAACAACAACAACAACAAAGTAAATATCACAATGGCCCATTTTTCAGCTGGAGAAACTGAGGCTCAGAAAAGTTAAGGTTTCACAACTGGTAAGGGGTAGAGTCAGGATTCAAACCTGTAACCCATGTGAATCTGGATCAATAATCACGTTCCCAGCCTACCTAAAGTGGCCTGGCAGGAGGGTAAGAATGTGCACTTTGAAAAGCACCCATACGTCTTGGTTCACTCATCCGGGAGCTGGCTCACCCGGGCCATAGCTGACACCACGATACTTGACAATGAAATCACTGTGCAGTGCTTTGAGGATCTGAATCTCCCGCTGAAAGTCCCTCTGCTGGTCTGGCCCGCTGTGCTGCAGCTGTTTCACGGCCACCAGGGCACCTGTATTGTCGCCTAGCGGGTCATAGCGGCACAGCTCCACGCTGCCAAAGTTGCCCTGGGGGATAGCGGGACTGATGTCCAGGCACCTGGATGCTGCCCTGCCCTCTCCAACCCACCCTGGCCCTGCCCACCTTACCTTGCCCAGCTGTGAGATGTACTTGAGGTGTCTCTCCTCGAAGATCGTGGGGTCTTGGCAGGCATAGAGCTGGGCACCATTCCACAGCCCATCACGAGGTGCCAGGGCACCAGGTGTGGGGTCTGAGAGGAGCTCATAGTCTGGGGTGGGGGCATGGGCAGTGGTAAGCAGCGCCTCTCATCCTGGGCCCCACTCCTGAGTTGACTTGCTGTGCAACCTCCATCTGCATATTGACCCTCTCTGTGCATTATGGCAGGGCCATTGCAAGCCAAAGGGTACCTTGTGGAGACTGGAAAAAGGTGTCTCCCACTCTGTCCCAGGCAAAGGAAGCCTCCTCGTGCAGTGCACACCCTGTGCAACTCCACATGGCTACAAAGATGGAGGACATAATGAGAACTCATTTCCCCAGTTCCACTGCTATGAAATGTGGCCACATGACTGAGCTCAGGCTGATGGACAAGATATGCTGGGTGCCCCTCCAGTCCTGACCCATGGAAACCTAATACGGGGCCCTCCACACTCTCTCTTTTATCTGCAGAGGATCCAACGGGGACCCAACGCCTGAGGTGAGTGCAGCCACTAAGTGAGAGGTTCCTGTGGGCCTGGACACCCTCATTGAATGAAGACTAAATATCACACTGGGCATGGTTGTGTGTGCCTGTAATCCCAGCTATTTGGGAGACTAAGGCAGGAGGATTGCTTGAGCCAGTAATTCAAGACCAGCCTGGGGAACATAGCAAAACCCCATCACAGAAAAAAAAAAAAAAAAAAAAAAAATCCAGCCTGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTGGGTGGCTGAGGTGGACGGATCTCTTTGAGACCAGGAGTTCAAGACTAGCCCGGCCAACATGGCAAAACCCTGTCTTTACTAAAAAATACAAAAATTTAGCCGTGTTTGGTGGCACGCCCTTGTAATCCTAGCTACTTGGGAGTCTGAGGCGGGAGAANN
|
pathogenic
| 301,237 |
Is chromosome 19, position 17836061, gene JAK3 (Janus kinase 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
TATAGGCATGAGCCACTGCGCCCAGCCAAACATTTTTTTAAAAGAATGAAATAGACCAGACATGGTGGCTCACACCTGAAATCCCAGCACTTTAGGAGGTAGAGGTGGGCGGATCACCTGAGGTCAAGAGTTCGAGACCAGCCTAGCCAATATGGTGAAACCCCATATCTGCCAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTAGAGGTTCAAGGAGGTAGAGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAATAAATAAATAAATAAAATATCATCATGTTGAACCTTGAACTGAGGGGACTGTTCGTTACAGTAGCTGTTGAAGCTCACACTGACTGTCACAGTCACCAACCCCTCCAACCTCACCAGACACACAGGGCGTGGCCTGCTGCAAACCACGCTCCTTCCACTGGGCCCAATATGACATCACAGCCCTCCCCACCCAACCCGTCCCAGCGGGCACCTGAAGAGATGAGGCTATTGAGGTCACGAATGACGGCTCGGAAGGAGGGCCTCTGGACCGGCTCATAGGCCATGCACTGTTGAATCAGCAGGGCCAGCTCTGTCCACTTGGGGGCCGGCAGCTGCTGCCGGTCCTCATAAAATTGGAGTTTCTGAGGGTGAGAGGAGCAGTCGGTAATCCCCAACCCAATAGACCCACCCCAATCTCCCCAGACTGGATGTCAGTCTGCCCTTCTGTCAAAGTGGGGGTTCGGAGACCGATGCCGGGTGAGGGGCTCTGACCTTAGCAGGATCCAGGGCACTGATGGGCATGGTGACGCCACTAAACACTTCCCAGACCGTGGCGCCGAAGCCCCACTTGTCAGCTTCCAAGCTAAGTGTCTGCGCCTCCCGGAGACACTCGGGGGCCACCCAGGGGATCCTGTCGGTGAGCACTGAGGGAATGAAAGTGGGATCAGGGATCCACTTCCTTGCCCTGCTCAGCCCCTCCCTCCTCCACCTCCAGGAACTTACTCTCCAGGCTTAACACAGCGGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCCGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCT
|
TATAGGCATGAGCCACTGCGCCCAGCCAAACATTTTTTTAAAAGAATGAAATAGACCAGACATGGTGGCTCACACCTGAAATCCCAGCACTTTAGGAGGTAGAGGTGGGCGGATCACCTGAGGTCAAGAGTTCGAGACCAGCCTAGCCAATATGGTGAAACCCCATATCTGCCAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTAGAGGTTCAAGGAGGTAGAGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAATAAATAAATAAATAAAATATCATCATGTTGAACCTTGAACTGAGGGGACTGTTCGTTACAGTAGCTGTTGAAGCTCACACTGACTGTCACAGTCACCAACCCCTCCAACCTCACCAGACACACAGGGCGTGGCCTGCTGCAAACCACGCTCCTTCCACTGGGCCCAATATGACATCACAGCCCTCCCCACCCAACCCGTCCCAGCGGGCACCTGAAGAGATGAGGCTATTGAGGTCACGAATGACGGCTCGGAAGGAGGGCCTCTGGACCGGCTCATAGGCCATGCACTGTTGAATCAGCAGGGCCAGCTCTGTCCACTTGGGGGCCGGCAGCTGCTGCCGGTCCTCATAAAATTGGAGTTTCTGAGGGTGAGAGGAGCAGTCGGTAATCCCCAACCCAATAGACCCACCCCAATCTCCCCAGACTGGATGTCAGTCTGCCCTTCTGTCAAAGTGGGGGTTCGGAGACCGATGCCGGGTGAGGGGCTCTGACCTTAGCAGGATCCAGGGCACTGATGGGCATGGTGACGCCACTAAACACTTCCCAGACCGTGGCGCCGAAGCCCCACTTGTCAGCTTCCAAGCTAAGTGTCTGCGCCTCCCGGAGACACTCGGGGGCCACCCAGGGGATCCTGTCGGTGAGCACTGAGGGAATGAAAGTGGGATCAGGGATCCACTTCCTTGCCCTGCTCAGCCCCTCCCTCCTCCACCTCCAGGAACTTACTCTCCAGGCTTAACACAGCGGGGCTGACCCCAGGGTCACTCAGCTTGATGAAGGGCGGGCTCCCATCAGCCCCCTCCCGAGCCAGGAGCACCTTCCGGGCAGAGACATTGCCATGGGGCAGGCCTTTGTCCTCCTAAGGGGGCCAGACACAGGAAAATGCCCGGGAGGGTTTGATGAATGAAGAGTCTGTTTGGCAAACTCCTATACATCCTTCAAAACCCACTTGGTACTGCTCAGACATGCTCCAGCATCGTCCCTGACTCCTGACATCCTGTCTTGCCCCTCTAGTTCACCCCCTACACTGACCTGGCTATGTCCCTCCCCTTCTCAAACACCACCCCATCCTGTGACTCCCCAGTGCCTTTGACACAAAGTGAAAGCTCCTCAGCCTGGCATTCAAGGCCCTTGCTCAAGCTTCCAATGAACTTCCCTTCCACACTTGCACCCTGGTCTCCTGCCAACAGAACTGCCTGATAGGCCCCAGGGGATGCAACACACTATCTAGCCTGCAGGCCTTTGCCTAGGCTGTTCCCTCAGCCTGACATTCCTTCCTTCCTTTCTTCTCTTGATGAACTTCTACTCAACTTTTAAGGCCCTATCTCCAATGTTCCTTCTTCTAGGAAGCCTTTCTTCCTGCCCAGCCTCGTCATTCACCACACGCCCTGACATCCAAGAATGACTTGTTCTCTTCTAGTGTTCTCACAACCTGAACCTAAAATGCCCTCCCCTCGAACCCTTACCAAACTCCTATGCATACTACAGAGCCCACTCCCAATTCCTCTTCCACCCAGAGAAAGCCTTCCCTGGGAATGGAGGGTGGAGCAGGCAGAGGAGCACTCACCAGATAGTTGAGGGCGTAGGCCAGCTGTTTGACCACCTGCAGCTTCCAGCTGGCTGGCACCAGGTGGCCACGTTTTCGCAGATACATGTCTATGGCCCCCAGGTGTACAAATTCCTGCACCATGGTGCCTGGTTGGCAGGCAGGGAGAGGCGGGGTTGGGAGACTGAACTGCACTTGTGTTGAGGAGGTTCTGCCAACACCCTGGCTCTCAGGGTCTCTCAAACTCTCATCTCTGTCTGTTCCCTCCCCTGCTGCCTCTGTTCATACAGTACTCACCTCTCCTCCCACCTCCATCTCTGAATGATTTGCCTGGAATGCCTGGAAGGTGTTGAGCCCTGTCTGTATCTGTATCTCACTTTTTTTTTTCTCTTTTCTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCCGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCC
|
benign
| 301,260 |
A genetic alteration at chromosome 19, position 17838355, in gene JAK3 (Janus kinase 3)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency']
|
GAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCCGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCATCAGAGGGGTTTGTCCAGGAGTGAAATTCACCCAGAGGAAGAGCTGAGAGCTGGAGAGAGACTAGGTGCAGATGACATGGCTCACATCTAGCTGTGCCTAGATCAAGCCAGACCTAAAGGTTATATATCTCTAACTTCCTGAGCCAACAAATCACCTTTTCTTCCCTAACCCACCTTGACCTGCAGTTTCTGCCACTTGCCACCCACACAGGAGCTGTCACAGACATAGAAAGCCAGGGTCCCAGATCAGCCACTCATTCCAGGGGAGGAAGGGGCTCACCTTTGGGTCTGGGGATACAGCAGGAAGTGAGGGTCACTGCCACCCCATCTACGTGCAGCCCCCCATCCCAGCAGGTTGCCAGGAGCTCTCGAAGACTGCTGTGGGGTCGGCTGAGGCCAACCAGAAGGAAGGTTCCTGTGGGGCTGCGCCGGATGAGGCAGCCCTTATAATCAGGACCAAGGGGGTTCTGCAAAGAAGAGTGGCCCCTGAGTGGGACTGAGCGACAGACACTCTCCTTCTCAGTCCTTCTTCCTTTTTTTTCTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGACCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACTACCACGCCCAGCTAAGTTTTATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTTTCGATCTCTTGATCTCTTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCCAGCCTCAGTCCTTTCTCCTAAAGCACCATGAACTCATTCCAGTCTTTAGACCTTTGAATATGCTGTTCTGTTCACCGGGGGTGTCTTTTCCCTCCTATTCTTCAGGAACCAAATGCTGACTGATCTTTTAAATCTCAATTCAAACGTCACCTCCTCCAGGCAGCCCTCCACTACCCACCCTAGCAGTAGACCGACCTGGACACAGACAGTGAGGAGGAAGCTGTCAAAGTCCTGGGGGCTGCGGCGGAGAACATAGGAGCCAGGACGTGAGCCCCCAGTCTTGAGCTTGTTGATGGCAAAGTCCAGACTGTGGGGGAAGGTGAGAGGGAATGGGGAGGAGTCAGAGATAGAAGAAGACAGAGAGACCT
|
GAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTAAGTAGCTGGAACTACAGGCGCATGCCACCACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTCTTGCCATGTTGGCCAGACTGGTCTTGAACTCCTGATCTCAGGTGATCCACTCGCCTCGGCTTTTCAATTACAGGCATGAGCCACCACGCCCAGCCTCTGTATCTCACTTCTAACCCTTTGCATATTCTGTGTCCTCTGCCTAGAACACCCCTCTTCCTTTCCTAATCCACACTTGTCCTTATCTTTCCAGGTTAGAATGCATCTCTGTCTTCCCACAAGCATTGCCCAACCCCCAGGCTGGCCCAGCAGCCTCTCTGACCATCCACAGTGCTCCGTGCTGCCCTCCTCACACCTCATCACACCCTGCCTGTCACATTCTAGGCTCTGTCCCAGCTCCTGGCCCATCCTAGACTCCCAACCAATGAAACCAAGGCTCAGAAAGGTTACGTGACCTGTACAAAGCTGCAGAGATTAGAAAGCCAGGTTTGTCTGACTTCAGGTCATTCTGGGGCTGGATATGGGTGAGAACCTGGAGCCGCTTTCCAAGGAGTGATGATGGAGAGACATAAATAAAGGGTAATGAACACGGCTCCCATCCAGGGTGGCCCAGTGTGTTGCTGGGGCTGTCATATAGCGGCTCAGAACAGAGGTGGGAAGAACAGCCTAGACTTGGGTGAGGCAGGGGTGGGGTGGGTGGGTGGGGGGCTCTCACTGTCTCCAGCCATGCACACGCCGTGGAGCAGCACGAGATGCCGGTACGACACTTGGCTCATCAAGCTCGCTGCTTCCAGGAATGACTGGGGAAGGTGGGAAGGGAGAGAAGATGCGTGGGTTTCTTCCACTCCAATAATCCCAAATTTTGTGCTCACAGACCTGCCTTAGGGGAACACCTGGCCACAGGTCACCTTTGGCCCTGGAGTCTGCCATTAGTGCACACAGCACTACCATGATTTTCTGATACGGGACAGAAGTTCCCACTATCATCTATGGTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCATCAGAGGGGTTTGTCCAGGAGTGAAATTCACCCAGAGGAAGAGCTGAGAGCTGGAGAGAGACTAGGTGCAGATGACATGGCTCACATCTAGCTGTGCCTAGATCAAGCCAGACCTAAAGGTTATATATCTCTAACTTCCTGAGCCAACAAATCACCTTTTCTTCCCTAACCCACCTTGACCTGCAGTTTCTGCCACTTGCCACCCACACAGGAGCTGTCACAGACATAGAAAGCCAGGGTCCCAGATCAGCCACTCATTCCAGGGGAGGAAGGGGCTCACCTTTGGGTCTGGGGATACAGCAGGAAGTGAGGGTCACTGCCACCCCATCTACGTGCAGCCCCCCATCCCAGCAGGTTGCCAGGAGCTCTCGAAGACTGCTGTGGGGTCGGCTGAGGCCAACCAGAAGGAAGGTTCCTGTGGGGCTGCGCCGGATGAGGCAGCCCTTATAATCAGGACCAAGGGGGTTCTGCAAAGAAGAGTGGCCCCTGAGTGGGACTGAGCGACAGACACTCTCCTTCTCAGTCCTTCTTCCTTTTTTTTCTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGACCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACTACCACGCCCAGCTAAGTTTTATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTTTCGATCTCTTGATCTCTTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCCAGCCTCAGTCCTTTCTCCTAAAGCACCATGAACTCATTCCAGTCTTTAGACCTTTGAATATGCTGTTCTGTTCACCGGGGGTGTCTTTTCCCTCCTATTCTTCAGGAACCAAATGCTGACTGATCTTTTAAATCTCAATTCAAACGTCACCTCCTCCAGGCAGCCCTCCACTACCCACCCTAGCAGTAGACCGACCTGGACACAGACAGTGAGGAGGAAGCTGTCAAAGTCCTGGGGGCTGCGGCGGAGAACATAGGAGCCAGGACGTGAGCCCCCAGTCTTGAGCTTGTTGATGGCAAAGTCCAGACTGTGGGGGAAGGTGAGAGGGAATGGGGAGGAGTCAGAGATAGAAGAAGACAGAGAGACCTN
|
pathogenic
| 301,272 |
Clinically, how would you classify the variant at chromosome 19, position 17839485, gene JAK3 (Janus kinase 3): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency']
|
ACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCATCAGAGGGGTTTGTCCAGGAGTGAAATTCACCCAGAGGAAGAGCTGAGAGCTGGAGAGAGACTAGGTGCAGATGACATGGCTCACATCTAGCTGTGCCTAGATCAAGCCAGACCTAAAGGTTATATATCTCTAACTTCCTGAGCCAACAAATCACCTTTTCTTCCCTAACCCACCTTGACCTGCAGTTTCTGCCACTTGCCACCCACACAGGAGCTGTCACAGACATAGAAAGCCAGGGTCCCAGATCAGCCACTCATTCCAGGGGAGGAAGGGGCTCACCTTTGGGTCTGGGGATACAGCAGGAAGTGAGGGTCACTGCCACCCCATCTACGTGCAGCCCCCCATCCCAGCAGGTTGCCAGGAGCTCTCGAAGACTGCTGTGGGGTCGGCTGAGGCCAACCAGAAGGAAGGTTCCTGTGGGGCTGCGCCGGATGAGGCAGCCCTTATAATCAGGACCAAGGGGGTTCTGCAAAGAAGAGTGGCCCCTGAGTGGGACTGAGCGACAGACACTCTCCTTCTCAGTCCTTCTTCCTTTTTTTTCTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGACCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACTACCACGCCCAGCTAAGTTTTATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTTTCGATCTCTTGATCTCTTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCCAGCCTCAGTCCTTTCTCCTAAAGCACCATGAACTCATTCCAGTCTTTAGACCTTTGAATATGCTGTTCTGTTCACCGGGGGTGTCTTTTCCCTCCTATTCTTCAGGAACCAAATGCTGACTGATCTTTTAAATCTCAATTCAAACGTCACCTCCTCCAGGCAGCCCTCCACTACCCACCCTAGCAGTAGACCGACCTGGACACAGACAGTGAGGAGGAAGCTGTCAAAGTCCTGGGGGCTGCGGCGGAGAACATAGGAGCCAGGACGTGAGCCCCCAGTCTTGAGCTTGTTGATGGCAAAGTCCAGACTGTGGGGGAAGGTGAGAGGGAATGGGGAGGAGTCAGAGATAGAAGAAGACAGAGAGACCTGGGCTCAAATTCAGGTACCTCTGTAGCCCTGGGATCCTTGCCAGGTGACACCCTCCCCCCATTTATAAAATCAGCCATGGGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCT
|
ACAGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCATCAGAGGGGTTTGTCCAGGAGTGAAATTCACCCAGAGGAAGAGCTGAGAGCTGGAGAGAGACTAGGTGCAGATGACATGGCTCACATCTAGCTGTGCCTAGATCAAGCCAGACCTAAAGGTTATATATCTCTAACTTCCTGAGCCAACAAATCACCTTTTCTTCCCTAACCCACCTTGACCTGCAGTTTCTGCCACTTGCCACCCACACAGGAGCTGTCACAGACATAGAAAGCCAGGGTCCCAGATCAGCCACTCATTCCAGGGGAGGAAGGGGCTCACCTTTGGGTCTTGGGGATACAGCAGGAAGTGAGGGTCACTGCCACCCCATCTACGTGCAGCCCCCCATCCCAGCAGGTTGCCAGGAGCTCTCGAAGACTGCTGTGGGGTCGGCTGAGGCCAACCAGAAGGAAGGTTCCTGTGGGGCTGCGCCGGATGAGGCAGCCCTTATAATCAGGACCAAGGGGGTTCTGCAAAGAAGAGTGGCCCCTGAGTGGGACTGAGCGACAGACACTCTCCTTCTCAGTCCTTCTTCCTTTTTTTTCTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGACCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACTACCACGCCCAGCTAAGTTTTATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTTTCGATCTCTTGATCTCTTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCCAGCCTCAGTCCTTTCTCCTAAAGCACCATGAACTCATTCCAGTCTTTAGACCTTTGAATATGCTGTTCTGTTCACCGGGGGTGTCTTTTCCCTCCTATTCTTCAGGAACCAAATGCTGACTGATCTTTTAAATCTCAATTCAAACGTCACCTCCTCCAGGCAGCCCTCCACTACCCACCCTAGCAGTAGACCGACCTGGACACAGACAGTGAGGAGGAAGCTGTCAAAGTCCTGGGGGCTGCGGCGGAGAACATAGGAGCCAGGACGTGAGCCCCCAGTCTTGAGCTTGTTGATGGCAAAGTCCAGACTGTGGGGGAAGGTGAGAGGGAATGGGGAGGAGTCAGAGATAGAAGAAGACAGAGAGACCTGGGCTCAAATTCAGGTACCTCTGTAGCCCTGGGATCCTTGCCAGGTGACACCCTCCCCCCATTTATAAAATCAGCCATGGGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCC
|
pathogenic
| 301,276 |
Gene JAK3 (Janus kinase 3) variant at chromosome position 17839534 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency']
|
ACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCATCAGAGGGGTTTGTCCAGGAGTGAAATTCACCCAGAGGAAGAGCTGAGAGCTGGAGAGAGACTAGGTGCAGATGACATGGCTCACATCTAGCTGTGCCTAGATCAAGCCAGACCTAAAGGTTATATATCTCTAACTTCCTGAGCCAACAAATCACCTTTTCTTCCCTAACCCACCTTGACCTGCAGTTTCTGCCACTTGCCACCCACACAGGAGCTGTCACAGACATAGAAAGCCAGGGTCCCAGATCAGCCACTCATTCCAGGGGAGGAAGGGGCTCACCTTTGGGTCTGGGGATACAGCAGGAAGTGAGGGTCACTGCCACCCCATCTACGTGCAGCCCCCCATCCCAGCAGGTTGCCAGGAGCTCTCGAAGACTGCTGTGGGGTCGGCTGAGGCCAACCAGAAGGAAGGTTCCTGTGGGGCTGCGCCGGATGAGGCAGCCCTTATAATCAGGACCAAGGGGGTTCTGCAAAGAAGAGTGGCCCCTGAGTGGGACTGAGCGACAGACACTCTCCTTCTCAGTCCTTCTTCCTTTTTTTTCTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGACCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACTACCACGCCCAGCTAAGTTTTATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTTTCGATCTCTTGATCTCTTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCCAGCCTCAGTCCTTTCTCCTAAAGCACCATGAACTCATTCCAGTCTTTAGACCTTTGAATATGCTGTTCTGTTCACCGGGGGTGTCTTTTCCCTCCTATTCTTCAGGAACCAAATGCTGACTGATCTTTTAAATCTCAATTCAAACGTCACCTCCTCCAGGCAGCCCTCCACTACCCACCCTAGCAGTAGACCGACCTGGACACAGACAGTGAGGAGGAAGCTGTCAAAGTCCTGGGGGCTGCGGCGGAGAACATAGGAGCCAGGACGTGAGCCCCCAGTCTTGAGCTTGTTGATGGCAAAGTCCAGACTGTGGGGGAAGGTGAGAGGGAATGGGGAGGAGTCAGAGATAGAAGAAGACAGAGAGACCTGGGCTCAAATTCAGGTACCTCTGTAGCCCTGGGATCCTTGCCAGGTGACACCCTCCCCCCATTTATAAAATCAGCCATGGGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACCC
|
ACTCACTGCAACCTCCGCTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAATTTTTTTGTCAAGACGAGGTCTCGCTATGTTGCCTAGGCTGTTCTTGAACTCCTGGCTTCAAACCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCACGCCCAGGTCCCTGTGTGTTTTTAAATTTCTCTGCATCCACGACCCCCTCTCCAGCCAGCCCCGACTCCAAAAGTCTGGTCCACATTGCTCTCACCTCCATGCAGTTCTTGTGCTTGGCATCCATGACCTTCAGCAGCACCTCTGTCTTTCGGGCCTCCCCATCCACCACCTCATGGCGACAGCCCCGGTAAATCTTGGTGAAGGACCCATGGCCCAGGTTCTCATGCTGAATGGTGAGGGGACAGCAGAAGAGGCCAGTGAGGGGGTTCCTGCAGGATCCCAGCCCAAGCGAGACATAGCTGCTGGCCCCATTTTACAGATGGGAAAACCGAGGCAAGGTAAAATTATAGCATATGCCTGAGGCCACGCATCTGAGTCTCTGGACCCCAGACTGAGGTATCGCCTCATTTCCCAGGGCCTCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCATCAGAGGGGTTTGTCCAGGAGTGAAATTCACCCAGAGGAAGAGCTGAGAGCTGGAGAGAGACTAGGTGCAGATGACATGGCTCACATCTAGCTGTGCCTAGATCAAGCCAGACCTAAAGGTTATATATCTCTAACTTCCTGAGCCAACAAATCACCTTTTCTTCCCTAACCCACCTTGACCTGCAGTTTCTGCCACTTGCCACCCACACAGGAGCTGTCACAGACATAGAAAGCCAGGGTCCCAGATCAGCCACTCATTCCAGGGGAGGAAGGGGCTCACCTTTGGGTCTGGGGATACAGCAGGAAGTGAGGGTCACTGCCACCCCATCTACGTGCAGCCCCCCCATCCCAGCAGGTTGCCAGGAGCTCTCGAAGACTGCTGTGGGGTCGGCTGAGGCCAACCAGAAGGAAGGTTCCTGTGGGGCTGCGCCGGATGAGGCAGCCCTTATAATCAGGACCAAGGGGGTTCTGCAAAGAAGAGTGGCCCCTGAGTGGGACTGAGCGACAGACACTCTCCTTCTCAGTCCTTCTTCCTTTTTTTTCTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGACCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACTACCACGCCCAGCTAAGTTTTATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTTTCGATCTCTTGATCTCTTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCCAGCCTCAGTCCTTTCTCCTAAAGCACCATGAACTCATTCCAGTCTTTAGACCTTTGAATATGCTGTTCTGTTCACCGGGGGTGTCTTTTCCCTCCTATTCTTCAGGAACCAAATGCTGACTGATCTTTTAAATCTCAATTCAAACGTCACCTCCTCCAGGCAGCCCTCCACTACCCACCCTAGCAGTAGACCGACCTGGACACAGACAGTGAGGAGGAAGCTGTCAAAGTCCTGGGGGCTGCGGCGGAGAACATAGGAGCCAGGACGTGAGCCCCCAGTCTTGAGCTTGTTGATGGCAAAGTCCAGACTGTGGGGGAAGGTGAGAGGGAATGGGGAGGAGTCAGAGATAGAAGAAGACAGAGAGACCTGGGCTCAAATTCAGGTACCTCTGTAGCCCTGGGATCCTTGCCAGGTGACACCCTCCCCCCATTTATAAAATCAGCCATGGGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACC
|
pathogenic
| 301,277 |
A genetic alteration at chromosome 19, position 17840305, in gene JAK3 (Janus kinase 3)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency']
|
TCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCATCAGAGGGGTTTGTCCAGGAGTGAAATTCACCCAGAGGAAGAGCTGAGAGCTGGAGAGAGACTAGGTGCAGATGACATGGCTCACATCTAGCTGTGCCTAGATCAAGCCAGACCTAAAGGTTATATATCTCTAACTTCCTGAGCCAACAAATCACCTTTTCTTCCCTAACCCACCTTGACCTGCAGTTTCTGCCACTTGCCACCCACACAGGAGCTGTCACAGACATAGAAAGCCAGGGTCCCAGATCAGCCACTCATTCCAGGGGAGGAAGGGGCTCACCTTTGGGTCTGGGGATACAGCAGGAAGTGAGGGTCACTGCCACCCCATCTACGTGCAGCCCCCCATCCCAGCAGGTTGCCAGGAGCTCTCGAAGACTGCTGTGGGGTCGGCTGAGGCCAACCAGAAGGAAGGTTCCTGTGGGGCTGCGCCGGATGAGGCAGCCCTTATAATCAGGACCAAGGGGGTTCTGCAAAGAAGAGTGGCCCCTGAGTGGGACTGAGCGACAGACACTCTCCTTCTCAGTCCTTCTTCCTTTTTTTTCTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGACCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACTACCACGCCCAGCTAAGTTTTATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTTTCGATCTCTTGATCTCTTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCCAGCCTCAGTCCTTTCTCCTAAAGCACCATGAACTCATTCCAGTCTTTAGACCTTTGAATATGCTGTTCTGTTCACCGGGGGTGTCTTTTCCCTCCTATTCTTCAGGAACCAAATGCTGACTGATCTTTTAAATCTCAATTCAAACGTCACCTCCTCCAGGCAGCCCTCCACTACCCACCCTAGCAGTAGACCGACCTGGACACAGACAGTGAGGAGGAAGCTGTCAAAGTCCTGGGGGCTGCGGCGGAGAACATAGGAGCCAGGACGTGAGCCCCCAGTCTTGAGCTTGTTGATGGCAAAGTCCAGACTGTGGGGGAAGGTGAGAGGGAATGGGGAGGAGTCAGAGATAGAAGAAGACAGAGAGACCTGGGCTCAAATTCAGGTACCTCTGTAGCCCTGGGATCCTTGCCAGGTGACACCCTCCCCCCATTTATAAAATCAGCCATGGGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACCCGAGGGTGCCGGTCCCGCCCTCGGGGTAAGGCTGAAGGGGAGGGGAATCCTGCACCCACTAAAATCTGGTTGTCTGTCCTGGTAACAGTGACCAGGCGGTGCTCTCCGGCCGGGCCAACGCGCGGGGCCTGCTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCA
|
TCTTACCCACTCCAGGCTGTCAGCAGGGATCTTGTGAAATGTCATCTGACTCAGCTGGTATTGGGATTGGGGCTGAACCAAGGATGATGTGGGTGGGCTGTGACCTCTCTGGACCACGATCAGGTTGGACTTTTCTATGGGGAGAGGATGAGGGAGAAAAACCAGAAATCAGAGGTGAAAAGTCCCCAAGGGTTAGCTAACTCATGCCTTAGTTTGAGGTACCCTCTAGAAGCCGACCCTGAGATGAAGACTTCAGGGCACATGGCTTTTTGTTGTTGTTTTTGTTTTGTTGTTGCTGCTGCTGTTGAGACGGAGTCTCACTCTGTCATCCAGGCTGGGTGGGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTTTCCTGCCTCGGCCTCCCGAATAGCTGGGACTACAGGTGTGTGCCACCGTGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGAGTGTGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCACGCTGGTCTCAAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCGAAGTGCTGGTATTACAGACGTGAGCCACTGTGCCTGGCTGGCACATGGTTTATTTGAAAGGAGATCCAGAAAGCCCCCATAGGGATTTGGGATGAGCGACAAGGAAGGAAGGAGCCCTGCAGGGGGCTTTAATGAGCAAGTGGCACTGTGGACAACCAGGGATCGGTTCTACCAGGGATTCTGGGAGACTCAGAAGAACTCACATCTCAGAATTGTCCCATCAGAGGGGTTTGTCCAGGAGTGAAATTCACCCAGAGGAAGAGCTGAGAGCTGGAGAGAGACTAGGTGCAGATGACATGGCTCACATCTAGCTGTGCCTAGATCAAGCCAGACCTAAAGGTTATATATCTCTAACTTCCTGAGCCAACAAATCACCTTTTCTTCCCTAACCCACCTTGACCTGCAGTTTCTGCCACTTGCCACCCACACAGGAGCTGTCACAGACATAGAAAGCCAGGGTCCCAGATCAGCCACTCATTCCAGGGGAGGAAGGGGCTCACCTTTGGGTCTGGGGATACAGCAGGAAGTGAGGGTCACTGCCACCCCATCTACGTGCAGCCCCCCATCCCAGCAGGTTGCCAGGAGCTCTCGAAGACTGCTGTGGGGTCGGCTGAGGCCAACCAGAAGGAAGGTTCCTGTGGGGCTGCGCCGGATGAGGCAGCCCTTATAATCAGGACCAAGGGGGTTCTGCAAAGAAGAGTGGCCCCTGAGTGGGACTGAGCGACAGACACTCTCCTTCTCAGTCCTTCTTCCTTTTTTTTCTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGACCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACTACCACGCCCAGCTAAGTTTTATATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGATGGTTTCGATCTCTTGATCTCTTGATCTGCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCCAGCCTCAGTCCTTTCTCCTAAAGCACCATGAACTCATTCCAGTCTTTAGACCTTTGAATATGCTGTTCTGTTCACCGGGGGTGTCTTTTCCCTCCTATTCTTCAGGAACCAAATGCTGACTGATCTTTTAAATCTCAATTCAAACGTCACCTCCTCCAGGCAGCCCTCCACTACCCACCCTAGCAGTAGACCGACCTGGACACAGACAGTGAGGAGGAAGCTGTCAAAGTCCTGGGGGCTGCGGCGGAGAACATAGGAGCCAGGACGTGAGCCCCCCAGTCTTGAGCTTGTTGATGGCAAAGTCCAGACTGTGGGGGAAGGTGAGAGGGAATGGGGAGGAGTCAGAGATAGAAGAAGACAGAGAGACCTGGGCTCAAATTCAGGTACCTCTGTAGCCCTGGGATCCTTGCCAGGTGACACCCTCCCCCCATTTATAAAATCAGCCATGGGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACCCGAGGGTGCCGGTCCCGCCCTCGGGGTAAGGCTGAAGGGGAGGGGAATCCTGCACCCACTAAAATCTGGTTGTCTGTCCTGGTAACAGTGACCAGGCGGTGCTCTCCGGCCGGGCCAACGCGCGGGGCCTGCTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTC
|
pathogenic
| 301,285 |
Does the genetic variant at chromosome 19, position 17842497, impacting gene JAK3 (Janus kinase 3), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Severe_combined_immunodeficiency_disease', 'T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency']
|
GACACCCTCCCCCCATTTATAAAATCAGCCATGGGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACCCGAGGGTGCCGGTCCCGCCCTCGGGGTAAGGCTGAAGGGGAGGGGAATCCTGCACCCACTAAAATCTGGTTGTCTGTCCTGGTAACAGTGACCAGGCGGTGCTCTCCGGCCGGGCCAACGCGCGGGGCCTGCTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAA
|
GACACCCTCCCCCCATTTATAAAATCAGCCATGGGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCAACACCATCCTGGCTAACACCGTGAAACCCCGTCGCTACTGAAAATACAAAAAAATAGCCGGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGACCCTGGGAAGCAGAGGTTGCATTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAGAAAAAAGAAAATCAGCCGTAAGTCTTGGCCTCTTCTGGGAGATTGTTTGTTTGTTTGTTTGTTTTAATAGAGACAGGGTCTTGCTTGGTTGCCCAGGCTGGAGTGCAATCTCAGCTCACTGCAGCCTCCAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCGGAGTCGCTGGGACTACAGGTCAACCACCACACCCAGCTATTTTTTTTTCTTTTTTTGTAGAGATGGGGTCTCTCCTGTTGCCTAGACTTGTCTCCAACTCCTGAGTTCAAACAATCCTCCTGCCTTGGCCCCTCAAAGCGCTGCGATTGCAGGTGTGCCCCACTATGCCTGGCCCTTCCTGGGAGATTAAACAAGAGGCTGTAGGTGAAGGTGGGCGACTTGTCCATCTCCAGGAAATGGCCCTGGGGTCAGAGAGAGAGAGAGTAGTGGTCGCCCTGTGAAGCAGAAGGAATACTTCAGCTTCACTGAGCGCTGACTGTGCGGCAGGTGTGGTTTGAAAACTTGACCCCTGTCCAGGGCTCCTGGAAGGTGAGGACACTGAGGCATAGAGAAGGGGAGGGGCCCTGAGTGGCCACAGAGGCCGGGAATGGGGGACAGGTCCTTACGTGATGGGGCCGTGGCACTGCTCGGCCACTTCCTCCAGCAGCCTCGGCGGTGCCACCTCCTTGCAGAAGAAGTGCTGGGAGTCCGTGGTCAGCCGGAAGTAGCCGTCCACGAGCGCCACGAACGACAGAGCCTCGGGCAGCCCTGGGAACTCGGCCTCCTGCGAGGGACAAGCGTCAGAGCCCAGTGAAACCCGAGGGTGCCGGTCCCGCCCTCGGGGTAAGGCTGAAGGGGAGGGGAATCCTGCACCCACTAAAATCTGGTTGTCTGTCCTGGTAACAGTGACCAGGCGGTGCTCTCCGGCCGGGCCAACGCGCGGGGCCTGCTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAANN
|
pathogenic
| 301,297 |
The mutation in gene JAK3 (Janus kinase 3) at chromosome 19, position 17843760—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
CTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAAGAAGGAAGGATAGCTTGAGACCAGGAGTTTGTTTTATGTTTTTTGCTTTTTTGAGACAGAGTCTCGCGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGAGATTCTCGTGCCTCAGCCACCCCAGTAGCTGGGATTACAGGTGGGCACCACCACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGATCTCAAACTCCTGGCCTCAAGTGATCAGCCTGCCTCAGCCTCCCAAAATGCTGGATTACATGTGTGAGCCACCGCGCCTGGCCGAGACCAGGAGTTTGAAACCAGACTGGGCAATATAGTGAGACCTCCTCTCAAAAAGAAAAAAAAGCCTTGTAATCCCAGCACTTTGACAGGCCGAGGCAGGTGGATCACTTGAGGCTAGGATTTTGAGACCTCATCTCTAAAAAATTAGCAGGGCATGGTGGCACACCCCCATAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGGATGCCTTCAGCTCTGCAAGTTGAGGCTGCATTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTATCTCTAGAAAAAAAACACAATACAAAAACTATGATCCAAAATAATGCCCTGTGGCTGGGGTGG
|
CTTGATGCTAATGTCTACGATTTCTGGAAAGTCGCAGAAGGGCTGGAGGACCTGGGAAGGAGGGGGAGTACCGAAGTGGGGGCCCAGCTGGACCCCGCCAAACCACGCCCATGAACCCACCCCCAAGCCACACCATCCACTCCCTATCCCTTTGCCATTCAACCCTTCCAAGCCGCGCCCCCTCCTATCAACTCCAACCTCTCAACACCTCCCCTACCCATCCCCAAACATCTCCCACCCGCTCTGCCAATCCCCGCCTCCTTCTCTCTGCCGGACCCCGCCCCTTGATCCCTGCCCCGCTTCGCAGCCTCCCAGCTCTCGGAGCCTCACTCTGCCTCTTAGTCTTGCCTCGTTCCAGCGCCCACCCACCCACTCCTCAACCCCTCCCATTTTCATTCCCGGGTCGCTCAGCCCAACCCTTCACTCAGTTTGCCCCTCCCATTCCCGCAGTCTCCTCCCTCACTAAGCCCCGCCCCTCATTAAGCCTCGCCCACTTCCCCAAGTCTTTCGTTTTGGCTCCGCCCCACATCCCCTACCACTCTCCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAAGAAGGAAGGATAGCTTGAGACCAGGAGTTTGTTTTATGTTTTTTGCTTTTTTGAGACAGAGTCTCGCGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGAGATTCTCGTGCCTCAGCCACCCCAGTAGCTGGGATTACAGGTGGGCACCACCACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGATCTCAAACTCCTGGCCTCAAGTGATCAGCCTGCCTCAGCCTCCCAAAATGCTGGATTACATGTGTGAGCCACCGCGCCTGGCCGAGACCAGGAGTTTGAAACCAGACTGGGCAATATAGTGAGACCTCCTCTCAAAAAGAAAAAAAAGCCTTGTAATCCCAGCACTTTGACAGGCCGAGGCAGGTGGATCACTTGAGGCTAGGATTTTGAGACCTCATCTCTAAAAAATTAGCAGGGCATGGTGGCACACCCCCATAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGGATGCCTTCAGCTCTGCAAGTTGAGGCTGCATTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTATCTCTAGAAAAAAAACACAATACAAAAACTATGATCCAAAATAATGCCCTGTGGCTGGGGTGGN
|
benign
| 301,306 |
Variant at chromosome 19, position 17844302, gene JAK3 (Janus kinase 3): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency']
|
CCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAAGAAGGAAGGATAGCTTGAGACCAGGAGTTTGTTTTATGTTTTTTGCTTTTTTGAGACAGAGTCTCGCGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGAGATTCTCGTGCCTCAGCCACCCCAGTAGCTGGGATTACAGGTGGGCACCACCACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGATCTCAAACTCCTGGCCTCAAGTGATCAGCCTGCCTCAGCCTCCCAAAATGCTGGATTACATGTGTGAGCCACCGCGCCTGGCCGAGACCAGGAGTTTGAAACCAGACTGGGCAATATAGTGAGACCTCCTCTCAAAAAGAAAAAAAAGCCTTGTAATCCCAGCACTTTGACAGGCCGAGGCAGGTGGATCACTTGAGGCTAGGATTTTGAGACCTCATCTCTAAAAAATTAGCAGGGCATGGTGGCACACCCCCATAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGGATGCCTTCAGCTCTGCAAGTTGAGGCTGCATTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTATCTCTAGAAAAAAAACACAATACAAAAACTATGATCCAAAATAATGCCCTGTGGCTGGGGTGGGGCGGCATTAATGAGGGTTTTTTTGTTTTTGTTTTGAGACAGAGTCTAGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTTACTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCACGCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTGGAACTCCTGACCTCGAGTGATCCTCCTGCCTCGGACTCCCAAAGTGCTGGGATTACCGGCGTGAGAAACTGCGCCTGGCCTAATGAGGTTTAAGACAATCAGAGGACTAGGACCCCTAGGACTCAGCTTTCGCAGCTGTGAAATGGGCTGACTCCCCAGCATCCTCATTGAGGTGGTCTGCTGAGCGCAATCCAGGCCTAAAGTGTCAACTCAATTAATGTGCATTAATTTGTATATTTCTTGATGATGTGCCGGTAAGCGATCAACAAACGCCTGTTAAACCAAACAGGAAGGGCAATTGGCACAGCGGTG
|
CCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAAGAAGGAAGGATAGCTTGAGACCAGGAGTTTGTTTTATGTTTTTTGCTTTTTTGAGACAGAGTCTCGCGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGAGATTCTCGTGCCTCAGCCACCCCAGTAGCTGGGATTACAGGTGGGCACCACCACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGATCTCAAACTCCTGGCCTCAAGTGATCAGCCTGCCTCAGCCTCCCAAAATGCTGGATTACATGTGTGAGCCACCGCGCCTGGCCGAGACCAGGAGTTTGAAACCAGACTGGGCAATATAGTGAGACCTCCTCTCAAAAAGAAAAAAAAGCCTTGTAATCCCAGCACTTTGACAGGCCGAGGCAGGTGGATCACTTGAGGCTAGGATTTTGAGACCTCATCTCTAAAAAATTAGCAGGGCATGGTGGCACACCCCCATAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGGATGCCTTCAGCTCTGCAAGTTGAGGCTGCATTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTATCTCTAGAAAAAAAACACAATACAAAAACTATGATCCAAAATAATGCCCTGTGGCTGGGGTGGGGCGGCATTAATGAGGGTTTTTTTGTTTTTGTTTTGAGACAGAGTCTAGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTTACTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCACGCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTGGAACTCCTGACCTCGAGTGATCCTCCTGCCTCGGACTCCCAAAGTGCTGGGATTACCGGCGTGAGAAACTGCGCCTGGCCTAATGAGGTTTAAGACAATCAGAGGACTAGGACCCCTAGGACTCAGCTTTCGCAGCTGTGAAATGGGCTGACTCCCCAGCATCCTCATTGAGGTGGTCTGCTGAGCGCAATCCAGGCCTAAAGTGTCAACTCAATTAATGTGCATTAATTTGTATATTTCTTGATGATGTGCCGGTAAGCGATCAACAAACGCCTGTTAAACCAAACAGGAAGGGCAATTGGCACAGCGGT
|
pathogenic
| 301,319 |
Evaluate this variant at chromosome 19, position 17844302, gene JAK3 (Janus kinase 3): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency']
|
CCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAAGAAGGAAGGATAGCTTGAGACCAGGAGTTTGTTTTATGTTTTTTGCTTTTTTGAGACAGAGTCTCGCGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGAGATTCTCGTGCCTCAGCCACCCCAGTAGCTGGGATTACAGGTGGGCACCACCACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGATCTCAAACTCCTGGCCTCAAGTGATCAGCCTGCCTCAGCCTCCCAAAATGCTGGATTACATGTGTGAGCCACCGCGCCTGGCCGAGACCAGGAGTTTGAAACCAGACTGGGCAATATAGTGAGACCTCCTCTCAAAAAGAAAAAAAAGCCTTGTAATCCCAGCACTTTGACAGGCCGAGGCAGGTGGATCACTTGAGGCTAGGATTTTGAGACCTCATCTCTAAAAAATTAGCAGGGCATGGTGGCACACCCCCATAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGGATGCCTTCAGCTCTGCAAGTTGAGGCTGCATTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTATCTCTAGAAAAAAAACACAATACAAAAACTATGATCCAAAATAATGCCCTGTGGCTGGGGTGGGGCGGCATTAATGAGGGTTTTTTTGTTTTTGTTTTGAGACAGAGTCTAGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTTACTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCACGCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTGGAACTCCTGACCTCGAGTGATCCTCCTGCCTCGGACTCCCAAAGTGCTGGGATTACCGGCGTGAGAAACTGCGCCTGGCCTAATGAGGTTTAAGACAATCAGAGGACTAGGACCCCTAGGACTCAGCTTTCGCAGCTGTGAAATGGGCTGACTCCCCAGCATCCTCATTGAGGTGGTCTGCTGAGCGCAATCCAGGCCTAAAGTGTCAACTCAATTAATGTGCATTAATTTGTATATTTCTTGATGATGTGCCGGTAAGCGATCAACAAACGCCTGTTAAACCAAACAGGAAGGGCAATTGGCACAGCGGTG
|
CCGGCCCCTCCCCGAGCCCCGCCCCCACGTTGGCCCCGCCCAGCGGGGGAGTCCGCCCTCACCTCCTGTTCTCCCTGGGTCCAGGCGATGCCGCCGTCACCAGCCACGCGGAGCAGCCCCAGCCCGTCGTGGCCACCAAGGGCCCCAGGGAGGCCCACGTGGAAGGTCTCGGCGGCCCCGGCTGGATCCAGCCGCTCCAGGTCCATGATGTACTTGGCCATGAGCGAGTGCCGGTCTGCCTGGCAGGCGGCCACGCGGCGCAGGGCTCTGCGCACCGTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCAGGTCGCGCAGGCTTGGGGGTAGGCAGGCCTTGTAGCTGCAGGGGTTGGAGGGGAGGGAGCCGGCCCTCAGCGTCGGGAGGGGTCCCCGCGGGGACACACACAAACCCAGGCTTTAGCCCAGGGGCTGGGGTGCGGCCCTAGTTGGGGCACCAGGCACACACAGACTCTCATTCAGGGTCAGGTATGAGGACCGGACCTCAGAGTAGGGGAGGGCCATTGGCGCCCACAGGTCGGACAGGGACCCCACAGGCCTTTTAGCTGGGGGAGGTCAGGTGTCTGTCCAGCTGGAGCCTGGGGGTGGAGAGGGCTGGGTTCGTGGGAGGCCCTGGGTCATAGGAACACCCTGAAAGCTTGCAGGAGAACTCCATGGTGGGAGCCCGGCAAAGCCCCGATGGAGCCCACGTTGCTCACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCTCTCACCTGACAGTCTTCAGCAGCTCTCCCGGCCGCTGGGCCTGCTCTCGCGCCATCCGGGCCAGGTCCAACACGGCCAGGCTGAGACACTCACCCTGCTCCTTGAGACTGAGGCCCACGGGGAGGCGCCCACTCACCAGGTCACTGCGGTGCTGGGGGGCCGCCACAGGGAGCATCAGCTGAGGCCACCCAACTTCAAGCCCTGTTGTTAACCTGCAGACCCCCCCAATCCTGGGCTGACCCCCACCCCTGGACTGCCACAGGGAGGGTCAGACGAGGCCCCACCTGATTGCATGCCAGTCCTCATGTTGCCCCTTGGACCCCCAACCCCCTGGGTCAAACCCCAGGCAGAACCCCACCTGGGCAAAGAGGTGCTCCAGGACTGGCAGGTCAAGGATAGCACTGGCCAAATCCTTGCGTAGCCCGAAGCGGTGGCACTTCTCCAGCCCAAACCAATTGGGGAAGTAAAAGCTGTGAGGAGAGGAGAGAACCCTGGGATGAAAGTGCAACCCAGCCTCAGTAGGAGTGACATTATGGTGGGGGCGAGGGACAGATTCTGCGGAGGCCTCACAGAGCCCAGCTTGTACCTTTAACTTGCTGTGTGACCTTGGGCAAGTGACCCACCCTCTCTGGTCTGTTTCCTCATCTGAGAAATGGGTAGTGACCATACCTCCCTGGGGCAGGGGTGTGGGCACCTCGAAATGCAAGGAGATGATAAAATTGTACAATCCCTGGGGGCTGGGGGGCACTTCCTACCGAATCCTGTACAGCAGGACTTGGGTGCTGGCATCCTCCACGGAGAAGATGTGGCTCGGGGGGAACCAGCAGGACAGGTCCTCCGTGGCCAGAGCAAAGAGGGAGTGGTACACAGGCAGGATGCCTACAGGGGATGGTCCCATCAGCTCCCTCCTGAGTCACCCCATCTGTGCCCTTCAGGAGTGCCAGCATCATACCCAACCGTCCAGATCCTTCCATACCTCAAGGTATGACCAGCTGTTCCCTTCATGTGCCGTCACACCTCTCCGTCTGCACAGGCCATTCCCTCTGCCTCAGAAGCCAACCCTGCACACCCTTCTCCATTACAAAACTCCTACTCATCCCCCAAAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACACAGCCCCATCCTTCCCTCTGGCCCGATCCACTAGGGATGCACTCACCGCTGGCCTTGGCAGCCTGCACGCACAGGTCCTCAGCCAAGTGGTCCCCAAAGGAGAAAGATAGGCGCTGGGGGGCCCGGGGCCCCGAGCGGGCAGCAGCACATGCAGGGCACCAGCCTCCGTGGACAAGAGGCTGCATGAACGCTGAGGGATCAGGGGCGTCTCTTCACTTGGAGGTGCCATGAGTGCAACTTGCCTGGGGCACAGAGAGAAAAAGCCCCTCAGTCCTGGTCAGAGGGGATTGGACTTCTGAGCAGGGAGGGCATGGAAAGGAGTGCTGGAGGCCGGGTGCGGTGGCTTATGCCTGTAATCACAGCATTTTGGGAGGCCGAGGCGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCTGCCTGGCCAACATGGCGAAACCCTGCCTCTAAAAAGTGCAAAACTTAGCCGGGTGTGGTGGTGCGTTCCTGTAATCCCAGCAACTCGGGAGGCTGAGGCAGGACAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGACAACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGCCTCCCTGGGATGGGCCCAGGAGGAAACTGGCCCCCTGCTTCCAGCCCCCAACACCTCCCACCCGCTCGCTCACTTGCCCTGAGAAACCTCAGCACTCAGGGCCCTCAGCTGGGTGGGGCCAGGGGTGGGGCTTCGAGTCCCCTGAGAAAAATTGGGGAGAAAAAGGAGGTCACTCAAATTGACCTGAATGAAGAAGATCTGAAGAAAGTGTTGGGAAAAACAAACAAAAACCTAAGTTCCAGCAGGGCGCAGTGGCTCATGTCTGTAATCCCATCATTTCCGGAGGCCAAGAAGGAAGGATAGCTTGAGACCAGGAGTTTGTTTTATGTTTTTTGCTTTTTTGAGACAGAGTCTCGCGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGAGATTCTCGTGCCTCAGCCACCCCAGTAGCTGGGATTACAGGTGGGCACCACCACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGATGGGGTTTCACTGATCTCAAACTCCTGGCCTCAAGTGATCAGCCTGCCTCAGCCTCCCAAAATGCTGGATTACATGTGTGAGCCACCGCGCCTGGCCGAGACCAGGAGTTTGAAACCAGACTGGGCAATATAGTGAGACCTCCTCTCAAAAAGAAAAAAAAGCCTTGTAATCCCAGCACTTTGACAGGCCGAGGCAGGTGGATCACTTGAGGCTAGGATTTTGAGACCTCATCTCTAAAAAATTAGCAGGGCATGGTGGCACACCCCCATAGTCCTAGCTACTTGGGAGGCTGAGACAGGAGGATGCCTTCAGCTCTGCAAGTTGAGGCTGCATTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTATCTCTAGAAAAAAAACACAATACAAAAACTATGATCCAAAATAATGCCCTGTGGCTGGGGTGGGGCGGCATTAATGAGGGTTTTTTTGTTTTTGTTTTGAGACAGAGTCTAGCTCTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTTACTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCACGCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTGGAACTCCTGACCTCGAGTGATCCTCCTGCCTCGGACTCCCAAAGTGCTGGGATTACCGGCGTGAGAAACTGCGCCTGGCCTAATGAGGTTTAAGACAATCAGAGGACTAGGACCCCTAGGACTCAGCTTTCGCAGCTGTGAAATGGGCTGACTCCCCAGCATCCTCATTGAGGTGGTCTGCTGAGCGCAATCCAGGCCTAAAGTGTCAACTCAATTAATGTGCATTAATTTGTATATTTCTTGATGATGTGCCGGTAAGCGATCAACAAACGCCTGTTAAACCAAACAGGAAGGGCAATTGGCACAGCGGTGN
|
pathogenic
| 301,320 |
Located at chromosome 19 position 17883859, the variant affecting gene SLC5A5 (solute carrier family 5 member 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Thyroid_dyshormonogenesis_1']
|
GGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCACAGCATCCACCAGCATCAATGCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCCAGGAAACTCGTGATTATCTCCAAGGGGCTCTGTGAGTTTCAGGGAGACCTGGGTGGGAGGCCAGGGCAGTCCCTCCCCGTTGACCGTGCCATCCTCATCCACTACAGCACTCATCTACGGATCGGCCTGTCTCACCGTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAGGTGAGACCCCACCTGCCCCCTGCCCTGGTCTCCTGAGAGGTGGGGGCACCTTTCCCTCTTTCCCATTAAACTGAGGCTCAGAGAGGTCACATGTGTCAGTGGCAGAACTCACTTCTATGTTTTTTTTTTTTTTGAGATGGGGTCTCACTGTGTTGTCCCAGGTTGGTGAGCAGAGGCCCGATCATAGCTCACTGCAACCTCCAGCTCCTGGGTTCAAGCCATCCTTCCACCTCAATCTCCCAAGTAGCTGGAGTTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGGTGGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCGCTGCAACCTCCACCCCCTGGGTTCAAGGAATTCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCGTCTAATATTTTTGTATTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAAGCTCAGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCTGACTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTATATTTTTGTATTTTTATTAGAGATGGGACTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTGGCTAATTTTAAAACTTGTTTTTAGAGACAGGGTCTCGCTTCGTGCCTAGGCTTGTCTTGAACTCCTGGCCTCAAGCAACCACCCGCCTCAGCCTTCCAAGTCGCTGAGATTAAGAACTAAGTTCTATTTGATGCCAGAGGCCATCAGGGGACTTTTTTGCAGCTGGCTGGCTTGGGGTGGGGGAATTGGGAAGGGGGAGGTGGCGACAGAAAGGGCCTCCCTATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAACCTGGACAGCAAAGTGAGACTCTGTCTAAAAAAAAAAAAGAAGAAGAAAGGGTCTCCCTGGCTTGAGGGTGGGACTGCCACCCCCAAGAGATAATCAGTGTCTTTGCCTCCAACCCAAGGGAGATAGGCAGGAACAAGGGGGGGGGGTCCTCTCCCCTTTAGGGAAACTGAGACACAGAGGAGTCCTTGAGACCCACATTGGAGTTCCTGAGGTCTCGCTTTCCCAGCGGGTAAACTGAGGCCCAGAGCGGTGGGAGGGCTCCGCCCTCAGCCCCACTTCCACCTACTCTCCCAGGGCTCCTTCACCGTCATGGGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGGCAAGGGGCGGGGAGGGGCGGGGCCGGACAGGCCCCTCCCCTTCCCTGACGCCGGCTCTGCCCCCAGGGCGTCCTCGCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCCTTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCTGCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCGGCTCTCCTCCCTGCTAACGACTCCAGCAGGGCCCCCAGGTGAGCAGACTTGAGGGTAGGGGGGTACCCGAGCCCTGGATGGTGTGATCTTGAAGGGAAACTTACTTGCCCTGCACTCTGTGTAAGAAGCCTGATTAGTAAAATGCATTCCTGGGGGAGGGAACGGTAGGTGCAAAGGCCCTGAGGCCACAATCGGGTTAGTCCCAGTCCAACTGCACTGAGGTTAGGGTGCATTTAATGGGAGGAGAGATGGGTGGGAGATATGGTGCAGCCAGAGGAAGCTAGTACTTTTTTTGTTTTGTTTTTCTGAGACAGAGCCTCGCTCTGTGGTCCAGGCTGGAATGCAGGGGTGCAATCTCAGCTTACTGCAGCTTCAACCTCTCAGGCTCAAGCAATCCTCCCAGCTTGAGGGAGGCCCAGAATTTGGTTTGGTTCTATTTTTTATTGAGATAAATTAGCCATTTAAAAGTGGCATTTAGGCCAGGCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGATCAACATGGGGAAACCCCCGTCTCTACTAAAAATACAAAACTTAGCCAAGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTATTCCAGCCTGGGCAACAAAAATGAAACTCCAACTCAAATAAATAAATTAAAGTGGCATTTAGTATATTTGTGCAACCATCACCACTATCTAAGTCAAGAACGTTTCCTCTTTTTTTTTTCTAATTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCAAAAACATTTTCTATTTTTTTTTTTTTTTGGAGCAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTCCAGTGGCACGATCATAGCTCACTGCTGCCTCAACCTCCTGGGCTCAAGGAATCTTCCTACCTCAGCCCCCCTAGTTGCTGGGACCACAGGTGCACACCATCATGTCCTGCTTGTTTTTATTTTTATTTTTTGTAGAGACAGGGTCTGGCTATGTTGCCCAGGCTGGTCTGGAATTCCTGGGCTCAAGCGATCTGCCCACCTCAGCCTTGCAAAGTGCCAGGATGACAGGTGTGGGCACCCAGCCAACCAAGAACATTTTCTGTTTTGTTTATTTATTTATTTATTTATTTTGGTTTTTTGGGTGGGTTTTTTTGCTTTTTGTTTATTTGATTTTTTGGAGACAGGGTCTCACTCTAACACCCAGGCTGGAGTGCAATGGCACAATCACAGCTCACTGCACCATTGACCTCCAGACTCCGATGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCATGTATCACCATGCTGGGCTAAATTTTTTGTATTTTTTATAGAGACGAGTTTTTGCCATGTTGCCCAGGCTGGTCTCAAAGTATTGGGCTCAAGTGATCTGCCTGCCTCTGACTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTTCCTGGTCATAAGAACATTTTTATCACCCCAGAAAGAAGCCCTGTCCCCATCAGCAGTCACTTCCCACTTCCCCCTCTCCCCAGCTCCTGGCAAGCACGAATCCACTTTCTGTTTCTATGAATTTGCCTGTTCTGGGCATTTCATGTAAATGGAATCATAAAATATGTGATCTTTTGTGTCTTAGCATAATACATATATATTTTTTGAGACGGGGTTTCACTTTGTCGCCCAGG
|
GGGGAGGGGAGGGGCAAATATCTCCTTCACCTTTGCAGGACTGGGTTACCCCCACCGTTGCCCTCAGGCTGGGTGAGGTCTGGCAGGCCAGATGGTGTGGACGGTCTCTCCATATGGCCTGAGGACCCCCCGCTGCCTTCCTCACACAGCACAGCATCCACCAGCATCAATGCTATGGCTGCAGTCACTGTAGAAGACCTCATCAAACCTCGGCTGCGGAGCCTGGCACCCAGGAAACTCGTGATTATCTCCAAGGGGCTCTGTGAGTTTCAGGGAGACCTGGGTGGGAGGCCAGGGCAGTCCCTCCCCGTTGACCGTGCCATCCTCATCCACTACAGCACTCATCTACGGATCGGCCTGTCTCACCGTGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAGGTGAGACCCCACCTGCCCCCTGCCCTGGTCTCCTGAGAGGTGGGGGCACCTTTCCCTCTTTCCCATTAAACTGAGGCTCAGAGAGGTCACATGTGTCAGTGGCAGAACTCACTTCTATGTTTTTTTTTTTTTTGAGATGGGGTCTCACTGTGTTGTCCCAGGTTGGTGAGCAGAGGCCCGATCATAGCTCACTGCAACCTCCAGCTCCTGGGTTCAAGCCATCCTTCCACCTCAATCTCCCAAGTAGCTGGAGTTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTGAGGTGGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCGCTGCAACCTCCACCCCCTGGGTTCAAGGAATTCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCGTCTAATATTTTTGTATTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAAGCTCAGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCTGACTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTATATTTTTGTATTTTTATTAGAGATGGGACTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTGGCTAATTTTAAAACTTGTTTTTAGAGACAGGGTCTCGCTTCGTGCCTAGGCTTGTCTTGAACTCCTGGCCTCAAGCAACCACCCGCCTCAGCCTTCCAAGTCGCTGAGATTAAGAACTAAGTTCTATTTGATGCCAGAGGCCATCAGGGGACTTTTTTGCAGCTGGCTGGCTTGGGGTGGGGGAATTGGGAAGGGGGAGGTGGCGACAGAAAGGGCCTCCCTATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAACCTGGACAGCAAAGTGAGACTCTGTCTAAAAAAAAAAAAGAAGAAGAAAGGGTCTCCCTGGCTTGAGGGTGGGACTGCCACCCCCAAGAGATAATCAGTGTCTTTGCCTCCAACCCAAGGGAGATAGGCAGGAACAAGGGGGGGGGGTCCTCTCCCCTTTAGGGAAACTGAGACACAGAGGAGTCCTTGAGACCCACATTGGAGTTCCTGAGGTCTCGCTTTCCCAGCGGGTAAACTGAGGCCCAGAGCGGTGGGAGGGCTCCGCCCTCAGCCCCACTTCCACCTACTCTCCCAGGGCTCCTTCACCGTCATGGGAGTCATCAGCGGCCCCCTGCTGGGAGCCTTCATCTTGGGAATGTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGGCAAGGGGCGGGGAGGGGCGGGGCCGGACAGGCCCCTCCCCTTCCCTGACGCCGGCTCTGCCCCCAGGGCGTCCTCGCCGGGACTAGGCGCGGGCTTGGCGCTGTCGCTGTGGGTGGCCTTGGGCGCCACGCTGTACCCACCCAGCGAGCAGACCATGAGGGTCCTGCCATCGTCGGCTGCCCGCTGCGTGGCTCTCTCAGTCAACGCCTCTGGCCTCCTGGACCCGGCTCTCCTCCCTGCTAACGACTCCAGCAGGGCCCCCAGGTGAGCAGACTTGAGGGTAGGGGGGTACCCGAGCCCTGGATGGTGTGATCTTGAAGGGAAACTTACTTGCCCTGCACTCTGTGTAAGAAGCCTGATTAGTAAAATGCATTCCTGGGGGAGGGAACGGTAGGTGCAAAGGCCCTGAGGCCACAATCGGGTTAGTCCCAGTCCAACTGCACTGAGGTTAGGGTGCATTTAATGGGAGGAGAGATGGGTGGGAGATATGGTGCAGCCAGAGGAAGCTAGTACTTTTTTTGTTTTGTTTTTCTGAGACAGAGCCTCGCTCTGTGGTCCAGGCTGGAATGCAGGGGTGCAATCTCAGCTTACTGCAGCTTCAACCTCTCAGGCTCAAGCAATCCTCCCAGCTTGAGGGAGGCCCAGAATTTGGTTTGGTTCTATTTTTTATTGAGATAAATTAGCCATTTAAAAGTGGCATTTAGGCCAGGCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTGATCAACATGGGGAAACCCCCGTCTCTACTAAAAATACAAAACTTAGCCAAGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGTATTCCAGCCTGGGCAACAAAAATGAAACTCCAACTCAAATAAATAAATTAAAGTGGCATTTAGTATATTTGTGCAACCATCACCACTATCTAAGTCAAGAACGTTTCCTCTTTTTTTTTTCTAATTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCCAAAAACATTTTCTATTTTTTTTTTTTTTTGGAGCAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTCCAGTGGCACGATCATAGCTCACTGCTGCCTCAACCTCCTGGGCTCAAGGAATCTTCCTACCTCAGCCCCCCTAGTTGCTGGGACCACAGGTGCACACCATCATGTCCTGCTTGTTTTTATTTTTATTTTTTGTAGAGACAGGGTCTGGCTATGTTGCCCAGGCTGGTCTGGAATTCCTGGGCTCAAGCGATCTGCCCACCTCAGCCTTGCAAAGTGCCAGGATGACAGGTGTGGGCACCCAGCCAACCAAGAACATTTTCTGTTTTGTTTATTTATTTATTTATTTATTTTGGTTTTTTGGGTGGGTTTTTTTGCTTTTTGTTTATTTGATTTTTTGGAGACAGGGTCTCACTCTAACACCCAGGCTGGAGTGCAATGGCACAATCACAGCTCACTGCACCATTGACCTCCAGACTCCGATGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCATGTATCACCATGCTGGGCTAAATTTTTTGTATTTTTTATAGAGACGAGTTTTTGCCATGTTGCCCAGGCTGGTCTCAAAGTATTGGGCTCAAGTGATCTGCCTGCCTCTGACTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACTGTTCCTGGTCATAAGAACATTTTTATCACCCCAGAAAGAAGCCCTGTCCCCATCAGCAGTCACTTCCCACTTCCCCCTCTCCCCAGCTCCTGGCAAGCACGAATCCACTTTCTGTTTCTATGAATTTGCCTGTTCTGGGCATTTCATGTAAATGGAATCATAAAATATGTGATCTTTTGTGTCTTAGCATAATACATATATATTTTTTGAGACGGGGTTTCACTTTGTCGCCCAG
|
pathogenic
| 301,344 |
Variant at chromosome position 18061147, chromosome 19, gene IL12RB1 (interleukin 12 receptor subunit beta 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency']
|
GTGTAAGGTCATTATCACCACCCCCATTTTATAGGGGGGTGAGGGTGGGGTGGGGGGTGGGATGGGAGGACCGTCATTTTTCCCACAAAGTTTACAGCCCCCTTCCCTATATGCCTGGATCCTCCAAGCTACAAGACCCCGCAATGCTGCAGGGAGCCCTTGAGTCCAGACTCCCCATCCAGTGCTCCTGGGGGTGGATGCCCAGCCCAGGGTCCAGGGATCCATCTGAGCCCCCCTTGCCCCCATTCCCAGTCCATTCTACGCCAGAACAGGTAAATGGCAGGGTCTGCTCCTGCCCCACGGATGCCAGGCCCAGCAGGGTGCAGCAGCTTCCATTTCATGGCAGCATCTAGGGTTCCCCCGCAGGATGGGTGGCAACAGGCACGGGGCAGAGAGGAGGCAGGTGCACTGGAGCCTGGAGGAGCTCTGGGTTATTTGGGTCCAAATGTGACTCCTGTGTGTGCTACGTAGCCTCGGGCGAGTCACTCACCCTCTCTGAGCCTCAACGATCACATCTGTAAAGTACAACAGTCATGGTTCCTTTCAGGGGGTGGTTGTAGGGATTTGGTAGGGAATCATGTGAGTGGATGGAATGGGCTGGGTATGCCATAAGTGCTTAATAACCAGCCGTTGTGATTGAGATAGTCGCTCTTCGTGTCTGTAAGACAAAGTGGATGTTTTCGTTTCTCCCTCAGGCCTCCAGGCCCTGATATCCCAGGAGCGATGGATGTCTAGCCCCCCCACCCCCCGGGCAGGGTTGCACCCCTGACCGTCTGGCCCACTGGGCCCCAGGACCTTGGCCTTGCACCTGTCTCCATCCTCCAAGGACAACTCTGTATCCAGGGCCAGCTCAGGGGCACCCTCAGGTAGCTCTGTCTTCTCGAGAGGCTCAGTCCTCTCGCCTTTGTCCCAGGACATCTCTACCACCAGGGCCTCCTGCAGGGATGCCTCTTCCTGGAAGTCCACTGGGTTGATCCACTGCCAAGTCTGCAGAGGGAGGGTAGGGCCACAGCTGTGAGCAGAGCTCTACTTCCCATCCACAGCAGGATGGAACGGACCAGGTCACTGCTGGTTAAATTCTCTAACATCCTGAGACCTGGACGGGTGCAGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGAGAACATGGCCAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCTTGGTTGCGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCGTTTGAACCCGGGAATCAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGGCTGGGTGACAGAGCGAGACTCCATATATCCTGAGACCGATTTGAGGATGGAGTCTGCCGCACTGACTCCCATTCAGCCCCTCTTAGGAAGAGCACTCCCATCTGTCTTTGGGAAATTTCCCTCCCTCTTTTCACAGATGGTGTGGTTGACAGTGCAGTGACCCCACCTCAGCTCTAGCAATGGTCATGTGACCCTGGCCAGCCCACCCATCAGACCCTTCCCTACCCCTCTGGTTCTAGCCATAGGCTCAGGGAAGGGCATGTGACCCAAGCTGGACCAATCAGTGATGGCCCTGAGACTTTTGCCCCAGTTAATGGGGAAAATGGACACCCTGCTTCCAATCAGAGAAGGCTCAGCCTGCCTGCGGAAGAACCCTGAACGGGCAGCTCCGAGATAGACCCCAATCGCTGGATTCAGGCATATCTGAAGCCCATTCCCTTGGGATTTTTTCCATCAGGTTTCCTTTATAATAAAGCCACTTTGAATTCTGTTTCTAGTGCCAGGAAATGGACCTCTGCCTGCCTGTCTTTAAAATGGGAAGGGGTATGGAGCACTGGTTTTGGAGTCCTTACCTTGATGAATTGGGAGAGAATAAAATGAGCTAATGCGTAACCCTTGTCCAGCATGTGCACCCAATAAAAAGACTTGGAATTAGAAAAGGCATCCTTACCTCCTTCCCTCCAGGGAACTCAATGGCGGAGCTGGCACAGGGTGTGGGCAGCGGCGGGCACAGGTGCCGTGCGGCCCTGGGGAGGAAAGGGGACCAGTGAGAGGAGCTGAGGTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAATCGATTCTCCTGACTCAGCCTCCTGAGTAGCTGAGATTACAAACGTGTGCCACCACACCCGGCTAATTTTTGTAGTTTTGGTAGAGAGAGGTTTCGCCATGTTGGCCAGGCTGGTGTCCAACTCCTGGCCTAAAGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCTTGAAAGCAGCTTTCAATCAGACATGCCCACCAGTGTCACCGCCCCTTTCCATGGGAATGACCAAGGACCCAAAAGTTACTATCCCTTCCCTAGAAATTTCTGCATAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTGAAAATACAAAATAAATAGCTGGGTGTGATGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCGGGAGGGGGAGGTTGCAATAAGCCAAGATCGTGCCACTGCACTCTAGCCTGGGTAACAGAGTAAGACTCCATCTCAAAAAAGAAAAAAAAAAGAAAGAAATTTTGCATAAACTGCCCCCCTTAATCTGCATGCAATTAAAAGTAAGTATAAATCTGACTGCAAAACCGCTCTCAGCGGCTACTCTCCGCCTACAGGGAAGCCCTGCTCTGCAGAGGCAGTCACGGAGCTATAACTGCTGCTTCAATAAAGCTGTTTTCTTCTACCTCTGGCTTGCCCTTGAATTATTTCCTGGGCAAAGCCAAGGACCCAATCTGCGGGCTAAGCTCCACTTTAGGGCTCCCCTGCCCAGCATCATTACCATCGCTATGGTAACGGTAAGAGGTGTCAGTTACCTGTTCAGGCCAAGGTAGCCAAGGACGCCCACGAGAAGGATGCTCAGGAAGCTCCCCAGGGAGGCGAAGAAGATGAGCCAATCAGAAACCTGCACTTCTGAGGTGGGAGAGCGTGGGTTGGCAGAGGGCTACCTCCTGCCTCTTCCTCAGGGAAGGAGCTAGGAGGGCCTGGTTTCTCCATGAACTTGCTGCTGATCCTGGTGCACATGCCACGGGCTTCTCACTGGGAGACCACAGAACCCACCTGCCCGGTAGCTGTCAAGAAATAAAGGCCTGGCATGCAGGAAGTGTTCAAGACTCTGTAATTCCAGGCCGGGCACAGTGACTCATGACTGTTATCCCAGCACTTTGGGAGGCCAACGTGGGCTGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATATGATGAAACCTGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGTGCGCCGGTAATCCCAGCTACTTGGGAGGGTGAGACAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCATTCCAGCCTCGGCAATAAGAGGGAAAATCTGTCTCAAAAAGATAAAAAAAGACTCTGTAATTCCAGGAGCCTGCACATAGGGCACATGTGGCTGCCCCTGGACCCAGGCCTGCCTGCCCCCCACCAACCCTGACTCTTTTGTTCTCTGGGTTCCAGTTGGTTCTCTTGGAACTGAAAGGACACCGTGGCATGAACAGGGATCATTTGATCTCTGAATCTCTTATAACCATGCACCCGACAACAGAGCCTGTGTTGTTCTCTTCCTCCTCCTCCTCCTCCTCCTCCCTCTTCTTCTATTCCTCTTCCTCTTCTTCTTCTTTCTTCTCCTTCTTCTTCTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCCGTCGCCCAGGCCAGAGTGCAGTGGTGCAGTCACGGCTCACTGCAACCTTGAACTCCTGGTCTC
|
GTGTAAGGTCATTATCACCACCCCCATTTTATAGGGGGGTGAGGGTGGGGTGGGGGGTGGGATGGGAGGACCGTCATTTTTCCCACAAAGTTTACAGCCCCCTTCCCTATATGCCTGGATCCTCCAAGCTACAAGACCCCGCAATGCTGCAGGGAGCCCTTGAGTCCAGACTCCCCATCCAGTGCTCCTGGGGGTGGATGCCCAGCCCAGGGTCCAGGGATCCATCTGAGCCCCCCTTGCCCCCATTCCCAGTCCATTCTACGCCAGAACAGGTAAATGGCAGGGTCTGCTCCTGCCCCACGGATGCCAGGCCCAGCAGGGTGCAGCAGCTTCCATTTCATGGCAGCATCTAGGGTTCCCCCGCAGGATGGGTGGCAACAGGCACGGGGCAGAGAGGAGGCAGGTGCACTGGAGCCTGGAGGAGCTCTGGGTTATTTGGGTCCAAATGTGACTCCTGTGTGTGCTACGTAGCCTCGGGCGAGTCACTCACCCTCTCTGAGCCTCAACGATCACATCTGTAAAGTACAACAGTCATGGTTCCTTTCAGGGGGTGGTTGTAGGGATTTGGTAGGGAATCATGTGAGTGGATGGAATGGGCTGGGTATGCCATAAGTGCTTAATAACCAGCCGTTGTGATTGAGATAGTCGCTCTTCGTGTCTGTAAGACAAAGTGGATGTTTTCGTTTCTCCCTCAGGCCTCCAGGCCCTGATATCCCAGGAGCGATGGATGTCTAGCCCCCCCACCCCCCGGGCAGGGTTGCACCCCTGACCGTCTGGCCCACTGGGCCCCAGGACCTTGGCCTTGCACCTGTCTCCATCCTCCAAGGACAACTCTGTATCCAGGGCCAGCTCAGGGGCACCCTCAGGTAGCTCTGTCTTCTCGAGAGGCTCAGTCCTCTCGCCTTTGTCCCAGGACATCTCTACCACCAGGGCCTCCTGCAGGGATGCCTCTTCCTGGAAGTCCACTGGGTTGATCCACTGCCAAGTCTGCAGAGGGAGGGTAGGGCCACAGCTGTGAGCAGAGCTCTACTTCCCATCCACAGCAGGATGGAACGGACCAGGTCACTGCTGGTTAAATTCTCTAACATCCTGAGACCTGGACGGGTGCAGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGAGAACATGGCCAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCTTGGTTGCGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCGTTTGAACCCGGGAATCAGAGGTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGGCTGGGTGACAGAGCGAGACTCCATATATCCTGAGACCGATTTGAGGATGGAGTCTGCCGCACTGACTCCCATTCAGCCCCTCTTAGGAAGAGCACTCCCATCTGTCTTTGGGAAATTTCCCTCCCTCTTTTCACAGATGGTGTGGTTGACAGTGCAGTGACCCCACCTCAGCTCTAGCAATGGTCATGTGACCCTGGCCAGCCCACCCATCAGACCCTTCCCTACCCCTCTGGTTCTAGCCATAGGCTCAGGGAAGGGCATGTGACCCAAGCTGGACCAATCAGTGATGGCCCTGAGACTTTTGCCCCAGTTAATGGGGAAAATGGACACCCTGCTTCCAATCAGAGAAGGCTCAGCCTGCCTGCGGAAGAACCCTGAACGGGCAGCTCCGAGATAGACCCCAATCGCTGGATTCAGGCATATCTGAAGCCCATTCCCTTGGGATTTTTTCCATCAGGTTTCCTTTATAATAAAGCCACTTTGAATTCTGTTTCTAGTGCCAGGAAATGGACCTCTGCCTGCCTGTCTTTAAAATGGGAAGGGGTATGGAGCACTGGTTTTGGAGTCCTTACCTTGATGAATTGGGAGAGAATAAAATGAGCTAATGCGTAACCCTTGTCCAGCATGTGCACCCAATAAAAAGACTTGGAATTAGAAAAGGCATCCTTACCTCCTTCCCTCCAGGGAACTCAATGGGGAGCTGGCACAGGGTGTGGGCAGCGGCGGGCACAGGTGCCGTGCGGCCCTGGGGAGGAAAGGGGACCAGTGAGAGGAGCTGAGGTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAATCGATTCTCCTGACTCAGCCTCCTGAGTAGCTGAGATTACAAACGTGTGCCACCACACCCGGCTAATTTTTGTAGTTTTGGTAGAGAGAGGTTTCGCCATGTTGGCCAGGCTGGTGTCCAACTCCTGGCCTAAAGCGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGTGCCCGGCTTGAAAGCAGCTTTCAATCAGACATGCCCACCAGTGTCACCGCCCCTTTCCATGGGAATGACCAAGGACCCAAAAGTTACTATCCCTTCCCTAGAAATTTCTGCATAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTGAAAATACAAAATAAATAGCTGGGTGTGATGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACCCGGGAGGGGGAGGTTGCAATAAGCCAAGATCGTGCCACTGCACTCTAGCCTGGGTAACAGAGTAAGACTCCATCTCAAAAAAGAAAAAAAAAAGAAAGAAATTTTGCATAAACTGCCCCCCTTAATCTGCATGCAATTAAAAGTAAGTATAAATCTGACTGCAAAACCGCTCTCAGCGGCTACTCTCCGCCTACAGGGAAGCCCTGCTCTGCAGAGGCAGTCACGGAGCTATAACTGCTGCTTCAATAAAGCTGTTTTCTTCTACCTCTGGCTTGCCCTTGAATTATTTCCTGGGCAAAGCCAAGGACCCAATCTGCGGGCTAAGCTCCACTTTAGGGCTCCCCTGCCCAGCATCATTACCATCGCTATGGTAACGGTAAGAGGTGTCAGTTACCTGTTCAGGCCAAGGTAGCCAAGGACGCCCACGAGAAGGATGCTCAGGAAGCTCCCCAGGGAGGCGAAGAAGATGAGCCAATCAGAAACCTGCACTTCTGAGGTGGGAGAGCGTGGGTTGGCAGAGGGCTACCTCCTGCCTCTTCCTCAGGGAAGGAGCTAGGAGGGCCTGGTTTCTCCATGAACTTGCTGCTGATCCTGGTGCACATGCCACGGGCTTCTCACTGGGAGACCACAGAACCCACCTGCCCGGTAGCTGTCAAGAAATAAAGGCCTGGCATGCAGGAAGTGTTCAAGACTCTGTAATTCCAGGCCGGGCACAGTGACTCATGACTGTTATCCCAGCACTTTGGGAGGCCAACGTGGGCTGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATATGATGAAACCTGTCTCTACTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGTGCGCCGGTAATCCCAGCTACTTGGGAGGGTGAGACAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCATTCCAGCCTCGGCAATAAGAGGGAAAATCTGTCTCAAAAAGATAAAAAAAGACTCTGTAATTCCAGGAGCCTGCACATAGGGCACATGTGGCTGCCCCTGGACCCAGGCCTGCCTGCCCCCCACCAACCCTGACTCTTTTGTTCTCTGGGTTCCAGTTGGTTCTCTTGGAACTGAAAGGACACCGTGGCATGAACAGGGATCATTTGATCTCTGAATCTCTTATAACCATGCACCCGACAACAGAGCCTGTGTTGTTCTCTTCCTCCTCCTCCTCCTCCTCCTCCCTCTTCTTCTATTCCTCTTCCTCTTCTTCTTCTTTCTTCTCCTTCTTCTTCTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCCGTCGCCCAGGCCAGAGTGCAGTGGTGCAGTCACGGCTCACTGCAACCTTGAACTCCTGGTCTCN
|
pathogenic
| 301,361 |
Regarding the variant at chromosome 19 and position 18075849, affecting gene IL12RB1 (interleukin 12 receptor subunit beta 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency']
|
TGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAGTTCCTTTTTGAATGCAAATGTATTTCTCTGCATGGTTTTGTTGTTGTTGCTGTTGTTTTATAGACTAGAGACAGAGTCTCGTTTTGATTCCCAGGCTTGTCTCAAACTCCTGGCCTCAAACAATCCTCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCGCCAGGCCTTTCTGCATGGTTTGAAACCCTCTCACTCATTTTCCTGTTGCCCAGGCTCAGGGCAGCAGCTGTTTAGTACACCCTGCCACCTGCAGGTGACATTGTCCTTGAGACACCGTGAGGTTCAGCCTGATGATTCTCACTTGATAAAGCCCTGTAGTGGGCTGAGCGCAGTGGCTCATACCTGGAATTCTAGCACTTTGGGAGACCGTGGTGGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCGGGCAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGTGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACAGTCTCAAAACAAAACAAAAAATAGCAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAACCGGGCGTGGTTGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAACAACAAAAAACAACAAACAAACAAACAAAAAAAACAGCAGCAAAAAACCCTAAAGTGGGTGCAGCAAGACCGGATGCCACATTGTCAGGGTTTGAGCACCCATTTCTCCCTCTGCCTTATTTCTAACACTCACCACCTTGTTTCTAATACCTGCTGCCTTATTTCTTTTTCCATTTTATTTTATTATTACTTTTTTTTTTTTTTTTACTTTTTTTTGAGACAGAGTCTGGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCCCTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCCGCCACCACGCCCAGCTAATTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCAGGGGGCAGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCGGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAATTCCAGTATTTTGGGAGGCCAAGGCAGGAAGATCACTT
|
TGCCTAAGGTTTTTTGTTTGTTTGTTTGTTCGTTTGCTTTTTGAGACGAAGTCTCACTCTATTACCTAGGCTGGAGTGCACTGGTGCGATCTCGGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGTTCTTGAACTCCTGACCTTGTGATCCACTTGCCTCGGCCTCCCAAACTGCTGGAATTATAGGCGTGAGCCACTGCGCCTGGCCTCTAAGTTCCTTTTTGAATGCAAATGTATTTCTCTGCATGGTTTTGTTGTTGTTGCTGTTGTTTTATAGACTAGAGACAGAGTCTCGTTTTGATTCCCAGGCTTGTCTCAAACTCCTGGCCTCAAACAATCCTCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATAAACCACAGCGCCAGGCCTTTCTGCATGGTTTGAAACCCTCTCACTCATTTTCCTGTTGCCCAGGCTCAGGGCAGCAGCTGTTTAGTACACCCTGCCACCTGCAGGTGACATTGTCCTTGAGACACCGTGAGGTTCAGCCTGATGATTCTCACTTGATAAAGCCCTGTAGTGGGCTGAGCGCAGTGGCTCATACCTGGAATTCTAGCACTTTGGGAGACCGTGGTGGGAGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCGGGCAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGTGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACAGTCTCAAAACAAAACAAAAAATAGCAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAACCGGGCGTGGTTGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAACAACAAAAAACAACAAACAAACAAACAAAAAAAACAGCAGCAAAAAACCCTAAAGTGGGTGCAGCAAGACCGGATGCCACATTGTCAGGGTTTGAGCACCCATTTCTCCCTCTGCCTTATTTCTAACACTCACCACCTTGTTTCTAATACCTGCTGCCTTATTTCTTTTTCCATTTTATTTTATTATTACTTTTTTTTTTTTTTTTACTTTTTTTTGAGACAGAGTCTGGCCCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGATCCCTGCAACCTCCACCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTCCCGCCACCACGCCCAGCTAATTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACGCCCAGCCCCATTTTATTTTATTTTTTAGAGATGGGGTCTCACTATGTTGCCCGGGCTGGTCTCAAACCACTGGCCTCAAGTGATCCTCCCGCCTCAGCCTTCTGAGCAGCTGGAACTACAGGTGTGCACCACCACCTCCGGCTGTTGCCTTATTTCTAATGCTTGCCCCTGTTCCTGTACTCAGAGTGATCTTACCAGGGGGAACGCACACGGGGCTGCTCCACTTGCTCCAGGAACTTCCTTGGCTCCCCAGCTGCCGTCGTCGGAGCTGGAATTCCTGGGCCACATTCATCTCCGGGGGCAGAGGCAGGACTCTGGGGAGAGGCAGGTCGAACATCAGGCCGTAAGAATTGTCCAGGACTTGGCACCAGTCACTTAACCATCATGTGCTTATTGAGCTCCAACTGTGTACAGAGCCACGTGCTGGGTCCTGGGGGCTCAGCAGAAGCAGGCCAGGCCCTGTCCTCTTAGGGCCTCCAGGATCACCCACGTCCATCCCTGCCCCTCAGTTCAAGTCCTGGCTGCGGCCATCCCTTCGGTCGTGACCTTGGCCAAAGGCTTCTCACCCCCTCCAAGTCGTGATTTGTTTCCCCACCTGCAATTTGGAAAGAATCCAATACTGAACTATGGGGCAGGGTAAGAGGCATACAAAAAAATTCAGCATTGGACCTGGCATACAGTAGGTGCTCAATTAATGCCAATTTGCTGCAGCTGTTGTTGTCATTACTATTATTATTCTCACCAGTATCATCATCCTGAGGTCCGCAGTCGCCCTAGAATAAAAACATATTCATATATTGTTTTGCATTTTGGTGCTGAAAAATATTTGCTGTTTTACAATTAGTTATTTATTTACTTATTTATCTGAGACACGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGCAATCATGGCTTATTGAAGCCTCAACCTCCCAGGGCTCAGGTGATCCTCCCGCCTCAGTCTCCTGAGTAGTTGGGACTACAGGCATGCACCATCACACTCAGCTAATTTTTGCATTTTTGGTAGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCCACCCCAACTCGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCGCACCTCGCTAAATTTTTTTAAATTAAAGACCATACTTCCAGGGATTATTTCTATCGTTAATTACTAGAGAACCTTCTCTAGGTTCAAACCTTCTTTAGGAACATATAAAGCAGTAAAAAATTATTATAACTAAATTTTAAAAATTAATAATTATTTTACTAAACACAATGTGGGATCCTGGATTGAATCTGGGAGCAGAAAAAAGACATTCCTGGAAAAATTGGTGACATTCAAATAATGCCTGGAGTTTATGTAAGACATTAACATTAGAGGAGTTTGGGTAAAGGATATATGGGCGTTCTCTGCACCAGTTTATATAGTAACTTTTCTGAAAATCGAAGGTTATTCCAAAAGAAAAAATTTATTTTAAAAAATTTTAGTGGGAGCAAGGCGTGGTGGTTCATGCCTGTATTCCCAGCACTTTGGAAGGCCAAGGTGGGCGGATCACCTGAGGAGTTTGAGACCAGCCTGGCCCACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTAGTGGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCAGGACAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAGAAAAAAAAAAAGAAAAAGAAAAAAACCACCTCAGGGGCTAGAGTGGGGGCTGGTTGGGAGCGGGGACAGATGCAGAGATGGTGAGACTGATTTGGGGGTGAAGGTGCCCTGGAGAGGCCCGTGTCCACCCTGGACTTGGGAAACAAACTCACCAACTTCCATGGGCTGCTGGGTGTCCGGTGCCGGAACTGCACCTCAGCACCAACCTGGTTATCCGGGGTCTCCCACTCCATACGCAGCTGCCCGGCCAACTTGGACACCTTGATGTCTCCCAGAGGAGGCTCATATTTAACTGGAAGCAGAGGTAGGGATTGGCGAGGGGCAGCCCACACGTATGTGAGTTAATGGGCCCTGAAAATCCACCCTGTCCAGGGTAAGCAACTGAATCCCTAAATATGAATTAGGGGACACTTGCAGGTCCCAGCTAAGCCTGGTATATTATGATCAAAAAGTCAAGATTTATACACAAGCCACATACGGTGGCTCACCCTGTAATTCCAGTATTTTGGGAGGCCAAGGCAGGAAGATCACTTN
|
pathogenic
| 301,386 |
Does the chromosome 19 mutation at position 18596662 within gene CRLF1 (cytokine receptor like factor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Cold-induced_sweating_syndrome_1']
|
GCTGCGCCCCTGGGGAGGTGGGGGGGAGGGGGAAGGAAGGGGCTCCTCCTCCACATCTCCTCCAGGAACCCGATTCCTGTGGCCTGAGCCAGGTGCGAGTGGAGTGGGGGGAGGGGAGAATGAGAGAGGCCAGAGCCGGGGGGATGAGACATAGAGATAGACAGACAGAGCAGGGGGCCGAAAAAGAGAAAGGGAGAAAGACGCACGGATGAGAGAGCCGGGGCCAGGGATGGAGAGATGGAGACGCAGGGTGGGTGAAAGCCAAGGGTGTCAGCCCAGGAGGAAAGGGCCTGATCAGGGTAGGACAGAAACCCTGGGGACATAGGGACAAAGAGATCGAGACAGAGACACAGAGGAAGAGTGACAGATGAAGGGAGACCGAGTGCAAGATGACCCCATGGGACTGTCCCCAGCATGGGCCCATGGGACAGGGAGTGGGCCAGGAGGGCCAGGTGGGAGGCCTGCCTGTCGGTCCAGCTGCCGGCTGCAGCCAGCCCCCAGCAGGCCGGCGGATAAGGACATCGGCCTCACGTCATAAATAAAGCCGGGGACCCGCTGACAGGCCCTGGCACGGCCCCGGCCCCCGCCGCCCCTGCTGGCCTTCCCCGGCCTCCCCAGCCTCCCCTGCGGACGCAGCGGCCTGCTGGCTCCTGTGCAAGAATCGCAGGTGCCGGGCACGAGCAGGGGCCAAGGCTCAGGCCCCTCCCGGCTGCGCTTGCTCCCGCCCACCCCTGAACCTGGAGGGGCCCAGGATAGGGGCTGGGGAGCTGGCTGGAGCCTGACTCTACCCCTCCCTAGCTCTGGGACCCTCTCTGGGCCTCAGTTTCCCTATCATCTCACGAGCCAGAGTGAGCTTGGTCTTCCCGGTGAACTAAGTTTAGACCTGTGTGACCTCCTAGAGCCTCAGTGTCCTCACCTGAGAAAAAGCGGCCTCCCTTGCAGTGAAACCCTGGGGGGATGGGACAATAAGTACCTCCATGCCAACTGCCTGCAAACACTTAGGTGGCACCCACCATGTGGGCACTTGCCACAAATTATGTCATCCAACCCTCATAACAGCCCAAGGCAAGTGGGATTCTCGACCCCACCTTCCAGATGGGGAAACGGAGGCCAGACATTCCAAGTAACAGCTTTCGTTTCATTTCACAAAAGAGAGACTAGAGGCCTGTGGACCCGGAGAAATCCCAGACAGCAAGAGGAAGCAGACCTAGGCACCTAATCATTCCCATCCCCCTGCCTTGATCAGAAGGAGAAATTGAGGCCCATCAAAGTGGGAGTTGGCAGCCCATTGGCCTTAGAAGCAGGGGTCTCAAACTCACTGGCCCCCTCTTAGGAGGGAGTCTGAGTGGCCAAAACAGACCAGATGGGGATGGGCAAATGGAGAGTGAGGGTCCTGAGAAGGGGAGACCACTGCTGGTGGGGGCTGTAGGCCATGCTGTTACATTTTCTAGATAATTTATTTTTCTAGGGAATCTAGGATATTTGTGTAAAAACTTCCTGGGTTTAAAATTTCTACTAGTTGGTCAAACTTTTTTTTTGTTTTCCAAACAACAGGCCAAAGAAAATAGATCCAAGGGCCACATTCAGCTCTGGGGGGGCCACCAGTTTGAGACTTCTACTCTCTTGGAGACAATCAGGAAACAGGCTGGGCATGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAATGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAAATACAAAAATTAGCTGTGCATGTTGGCGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTCAGGTAGGAGAATCGCTTGAAACCGGGAGGCAGAGGTTGCAGTGAGTGCAGATCACACCACTATGCGACAGAATGAGGCCGTGTCTCAAAAGAAAAAAAAAAGAAAAGAAAACAAGGAAACAGAGGCTCTAGCTGGTTTCGGACTGGCCGCTGGATCACCCAGCCCTAGGAGGGTGCTCACCACTGCGGGGAGTGGAGGCGGCTGTGGGGTGGCTCCACTCACTCCAGATCCCGGCTTTCTTGGAGCCATAGATGCCAAAGGGGTTGCAGCGCACTTGCACGAAGTACACGGTGCCGGGTTTCAGGCCGGCCAGGCGGCAGGAGGTCTGGTTGCTCACATCGTCCACCACCTGGACAGTGAGGACAAGGTCAGAGTAGAGGGCGGGGCCTAGCAGGAGCGGGGGCGGGGCCTGGAAGGAACAGGGGCGGAGTCAGGGAAGGGGAGGGTCACCTTCCAGTCCACACTGTCCTCCACTCGGTAGCGGATCTGGTATTTGGCTTGAAAGAGGAAATCCTTGAGGGCGGGTGGCGACACCCAGCGCACGCTCAGCTGGTCCTCCAGGCCCCCGACGCGGCTCACGTGCACGTCGGGCGGGGGGTCCGTGGTCACTGCGGGGCAGAGGAGGGACCCTCTCAGCCTGGGACTGTCTGGGTTTAACTCCCCCCAGCAGTGTGGCCCAGGGCACTTGGCCTAGATGGAACCTGCCTCTGTTTTCCTCCTCTTCCCTCTGCCCCCACCCCCAGGACTGGTGGATTACACGATATATAATATTGGAGAAACACTCAGCACCTAATTAATGTTAGCTGTTATCACCATTATTATCTGTGACGGGAGAAACATAATCCTATCTTCAACTGACTATGGGAAAGCAGCCATTGCGGGGTTGATGATATTATTATTATCATGCTTAGGAGGCCAGGGGCTGTCAGGCCGTCAGCCTTCTGGGAACCTCCCTGCCACCCCCTCCCCACTCACACCTCCCTTCCACTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAATTGTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTCCCTTCCACTCTTACTGAAATCTTTGATGTGACATTTTGCTGGGTGCAGAGAAGCAACTGAGGCTTAGAACTTTCCCACTGTAGCGTTAGGATGTGGGGAAGAGTGAGGCAGGCTGCGGGGGCAGGGATGGGGGCTACAACCCAGGCGTATGTGTGTGTTGGGGGGTTCTGAGGATCCTTCTGGGGGCCCCTGAGGGCAGCAGGGTGAGCTGGCCTCTCCCCCTGAGGCCTTGGTGAGGGGCCTAAAGGGTTAAGGCACAGGCCTGCTTGGGGCTGAGAAACACCCTAATTAGATTAGGCTCAATTCTGCTCACAGATCATCCATTTCCTGCCTCCCGCCCTGCGCCCCCCAGCTCCAGGCCTCGGCTTCCTGGGGCGCCTCCCGACCTGGGCGCCCCCTCCCCTCTCCCCAGGGCCCCCTCCTGCACACCTGGGCTGCCGAGGGGGTGGTGGCCAGGCCAGGTGTTCTCTGTGGAGTGGGGGTATCCTGGCTGTTTCTGGGGGCTGCGGACTGATGAGCGGATGCTCAGCTACTTACCTACCTTCCCTCTGACCAGCAGGGACAACCCGGGAGTTGCCGGGCTGGGGAGGGGCAGGTGGGACCCTAGGAAAAATGAGAAGGTGCAGGGGACCCCTCGGGATGCTCGGTGGGTGGGGCTGGTGCCGAGGGAGGGGCCTAGCAGACACTGGGGGCTCACCCACATCCAGGATATCCAGCGTGAGTACATCGGAGCGGGCAGAGCCCAGGCGGTTGGTGGCCTCCACCCAGATCTCATAGGGCGTAAAGAGAGCCAGGTCCTTGGGGATGTGGCAGGAGTGGGGCCCCACTGTGTGGTACTCCTCACATGTGTTGTCCTGGCCATACCACCTGCGGGGATGGGAGGGCGACAGGACGCATGAGGGTTCCTTGTGGCCCCCAGACCTCACCATGGCAGCCTCAGGGTGCAGACAACACATGGGGGCTCAGAGAGGGTCC
|
GCTGCGCCCCTGGGGAGGTGGGGGGGAGGGGGAAGGAAGGGGCTCCTCCTCCACATCTCCTCCAGGAACCCGATTCCTGTGGCCTGAGCCAGGTGCGAGTGGAGTGGGGGGAGGGGAGAATGAGAGAGGCCAGAGCCGGGGGGATGAGACATAGAGATAGACAGACAGAGCAGGGGGCCGAAAAAGAGAAAGGGAGAAAGACGCACGGATGAGAGAGCCGGGGCCAGGGATGGAGAGATGGAGACGCAGGGTGGGTGAAAGCCAAGGGTGTCAGCCCAGGAGGAAAGGGCCTGATCAGGGTAGGACAGAAACCCTGGGGACATAGGGACAAAGAGATCGAGACAGAGACACAGAGGAAGAGTGACAGATGAAGGGAGACCGAGTGCAAGATGACCCCATGGGACTGTCCCCAGCATGGGCCCATGGGACAGGGAGTGGGCCAGGAGGGCCAGGTGGGAGGCCTGCCTGTCGGTCCAGCTGCCGGCTGCAGCCAGCCCCCAGCAGGCCGGCGGATAAGGACATCGGCCTCACGTCATAAATAAAGCCGGGGACCCGCTGACAGGCCCTGGCACGGCCCCGGCCCCCGCCGCCCCTGCTGGCCTTCCCCGGCCTCCCCAGCCTCCCCTGCGGACGCAGCGGCCTGCTGGCTCCTGTGCAAGAATCGCAGGTGCCGGGCACGAGCAGGGGCCAAGGCTCAGGCCCCTCCCGGCTGCGCTTGCTCCCGCCCACCCCTGAACCTGGAGGGGCCCAGGATAGGGGCTGGGGAGCTGGCTGGAGCCTGACTCTACCCCTCCCTAGCTCTGGGACCCTCTCTGGGCCTCAGTTTCCCTATCATCTCACGAGCCAGAGTGAGCTTGGTCTTCCCGGTGAACTAAGTTTAGACCTGTGTGACCTCCTAGAGCCTCAGTGTCCTCACCTGAGAAAAAGCGGCCTCCCTTGCAGTGAAACCCTGGGGGGATGGGACAATAAGTACCTCCATGCCAACTGCCTGCAAACACTTAGGTGGCACCCACCATGTGGGCACTTGCCACAAATTATGTCATCCAACCCTCATAACAGCCCAAGGCAAGTGGGATTCTCGACCCCACCTTCCAGATGGGGAAACGGAGGCCAGACATTCCAAGTAACAGCTTTCGTTTCATTTCACAAAAGAGAGACTAGAGGCCTGTGGACCCGGAGAAATCCCAGACAGCAAGAGGAAGCAGACCTAGGCACCTAATCATTCCCATCCCCCTGCCTTGATCAGAAGGAGAAATTGAGGCCCATCAAAGTGGGAGTTGGCAGCCCATTGGCCTTAGAAGCAGGGGTCTCAAACTCACTGGCCCCCTCTTAGGAGGGAGTCTGAGTGGCCAAAACAGACCAGATGGGGATGGGCAAATGGAGAGTGAGGGTCCTGAGAAGGGGAGACCACTGCTGGTGGGGGCTGTAGGCCATGCTGTTACATTTTCTAGATAATTTATTTTTCTAGGGAATCTAGGATATTTGTGTAAAAACTTCCTGGGTTTAAAATTTCTACTAGTTGGTCAAACTTTTTTTTTGTTTTCCAAACAACAGGCCAAAGAAAATAGATCCAAGGGCCACATTCAGCTCTGGGGGGGCCACCAGTTTGAGACTTCTACTCTCTTGGAGACAATCAGGAAACAGGCTGGGCATGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAATGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAAATACAAAAATTAGCTGTGCATGTTGGCGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTCAGGTAGGAGAATCGCTTGAAACCGGGAGGCAGAGGTTGCAGTGAGTGCAGATCACACCACTATGCGACAGAATGAGGCCGTGTCTCAAAAGAAAAAAAAAAGAAAAGAAAACAAGGAAACAGAGGCTCTAGCTGGTTTCGGACTGGCCGCTGGATCACCCAGCCCTAGGAGGGTGCTCACCACTGCGGGGAGTGGAGGCGGCTGTGGGGTGGCTCCACTCACCTCCAGATCCCGGCTTTCTTGGAGCCATAGATGCCAAAGGGGTTGCAGCGCACTTGCACGAAGTACACGGTGCCGGGTTTCAGGCCGGCCAGGCGGCAGGAGGTCTGGTTGCTCACATCGTCCACCACCTGGACAGTGAGGACAAGGTCAGAGTAGAGGGCGGGGCCTAGCAGGAGCGGGGGCGGGGCCTGGAAGGAACAGGGGCGGAGTCAGGGAAGGGGAGGGTCACCTTCCAGTCCACACTGTCCTCCACTCGGTAGCGGATCTGGTATTTGGCTTGAAAGAGGAAATCCTTGAGGGCGGGTGGCGACACCCAGCGCACGCTCAGCTGGTCCTCCAGGCCCCCGACGCGGCTCACGTGCACGTCGGGCGGGGGGTCCGTGGTCACTGCGGGGCAGAGGAGGGACCCTCTCAGCCTGGGACTGTCTGGGTTTAACTCCCCCCAGCAGTGTGGCCCAGGGCACTTGGCCTAGATGGAACCTGCCTCTGTTTTCCTCCTCTTCCCTCTGCCCCCACCCCCAGGACTGGTGGATTACACGATATATAATATTGGAGAAACACTCAGCACCTAATTAATGTTAGCTGTTATCACCATTATTATCTGTGACGGGAGAAACATAATCCTATCTTCAACTGACTATGGGAAAGCAGCCATTGCGGGGTTGATGATATTATTATTATCATGCTTAGGAGGCCAGGGGCTGTCAGGCCGTCAGCCTTCTGGGAACCTCCCTGCCACCCCCTCCCCACTCACACCTCCCTTCCACTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAATTGTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTCCCTTCCACTCTTACTGAAATCTTTGATGTGACATTTTGCTGGGTGCAGAGAAGCAACTGAGGCTTAGAACTTTCCCACTGTAGCGTTAGGATGTGGGGAAGAGTGAGGCAGGCTGCGGGGGCAGGGATGGGGGCTACAACCCAGGCGTATGTGTGTGTTGGGGGGTTCTGAGGATCCTTCTGGGGGCCCCTGAGGGCAGCAGGGTGAGCTGGCCTCTCCCCCTGAGGCCTTGGTGAGGGGCCTAAAGGGTTAAGGCACAGGCCTGCTTGGGGCTGAGAAACACCCTAATTAGATTAGGCTCAATTCTGCTCACAGATCATCCATTTCCTGCCTCCCGCCCTGCGCCCCCCAGCTCCAGGCCTCGGCTTCCTGGGGCGCCTCCCGACCTGGGCGCCCCCTCCCCTCTCCCCAGGGCCCCCTCCTGCACACCTGGGCTGCCGAGGGGGTGGTGGCCAGGCCAGGTGTTCTCTGTGGAGTGGGGGTATCCTGGCTGTTTCTGGGGGCTGCGGACTGATGAGCGGATGCTCAGCTACTTACCTACCTTCCCTCTGACCAGCAGGGACAACCCGGGAGTTGCCGGGCTGGGGAGGGGCAGGTGGGACCCTAGGAAAAATGAGAAGGTGCAGGGGACCCCTCGGGATGCTCGGTGGGTGGGGCTGGTGCCGAGGGAGGGGCCTAGCAGACACTGGGGGCTCACCCACATCCAGGATATCCAGCGTGAGTACATCGGAGCGGGCAGAGCCCAGGCGGTTGGTGGCCTCCACCCAGATCTCATAGGGCGTAAAGAGAGCCAGGTCCTTGGGGATGTGGCAGGAGTGGGGCCCCACTGTGTGGTACTCCTCACATGTGTTGTCCTGGCCATACCACCTGCGGGGATGGGAGGGCGACAGGACGCATGAGGGTTCCTTGTGGCCCCCAGACCTCACCATGGCAGCCTCAGGGTGCAGACAACACATGGGGGCTCAGAGAGGGTC
|
pathogenic
| 301,482 |
Variant chromosome 19, position 18597033, gene CRLF1 (cytokine receptor like factor 1): benign or pathogenic? Disease(s)?
|
pathogenic; ['CRLF1-related_disorder', 'Cold-induced_sweating_syndrome_1', 'Inborn_genetic_diseases']
|
AGGGAGACCGAGTGCAAGATGACCCCATGGGACTGTCCCCAGCATGGGCCCATGGGACAGGGAGTGGGCCAGGAGGGCCAGGTGGGAGGCCTGCCTGTCGGTCCAGCTGCCGGCTGCAGCCAGCCCCCAGCAGGCCGGCGGATAAGGACATCGGCCTCACGTCATAAATAAAGCCGGGGACCCGCTGACAGGCCCTGGCACGGCCCCGGCCCCCGCCGCCCCTGCTGGCCTTCCCCGGCCTCCCCAGCCTCCCCTGCGGACGCAGCGGCCTGCTGGCTCCTGTGCAAGAATCGCAGGTGCCGGGCACGAGCAGGGGCCAAGGCTCAGGCCCCTCCCGGCTGCGCTTGCTCCCGCCCACCCCTGAACCTGGAGGGGCCCAGGATAGGGGCTGGGGAGCTGGCTGGAGCCTGACTCTACCCCTCCCTAGCTCTGGGACCCTCTCTGGGCCTCAGTTTCCCTATCATCTCACGAGCCAGAGTGAGCTTGGTCTTCCCGGTGAACTAAGTTTAGACCTGTGTGACCTCCTAGAGCCTCAGTGTCCTCACCTGAGAAAAAGCGGCCTCCCTTGCAGTGAAACCCTGGGGGGATGGGACAATAAGTACCTCCATGCCAACTGCCTGCAAACACTTAGGTGGCACCCACCATGTGGGCACTTGCCACAAATTATGTCATCCAACCCTCATAACAGCCCAAGGCAAGTGGGATTCTCGACCCCACCTTCCAGATGGGGAAACGGAGGCCAGACATTCCAAGTAACAGCTTTCGTTTCATTTCACAAAAGAGAGACTAGAGGCCTGTGGACCCGGAGAAATCCCAGACAGCAAGAGGAAGCAGACCTAGGCACCTAATCATTCCCATCCCCCTGCCTTGATCAGAAGGAGAAATTGAGGCCCATCAAAGTGGGAGTTGGCAGCCCATTGGCCTTAGAAGCAGGGGTCTCAAACTCACTGGCCCCCTCTTAGGAGGGAGTCTGAGTGGCCAAAACAGACCAGATGGGGATGGGCAAATGGAGAGTGAGGGTCCTGAGAAGGGGAGACCACTGCTGGTGGGGGCTGTAGGCCATGCTGTTACATTTTCTAGATAATTTATTTTTCTAGGGAATCTAGGATATTTGTGTAAAAACTTCCTGGGTTTAAAATTTCTACTAGTTGGTCAAACTTTTTTTTTGTTTTCCAAACAACAGGCCAAAGAAAATAGATCCAAGGGCCACATTCAGCTCTGGGGGGGCCACCAGTTTGAGACTTCTACTCTCTTGGAGACAATCAGGAAACAGGCTGGGCATGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAATGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAAATACAAAAATTAGCTGTGCATGTTGGCGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTCAGGTAGGAGAATCGCTTGAAACCGGGAGGCAGAGGTTGCAGTGAGTGCAGATCACACCACTATGCGACAGAATGAGGCCGTGTCTCAAAAGAAAAAAAAAAGAAAAGAAAACAAGGAAACAGAGGCTCTAGCTGGTTTCGGACTGGCCGCTGGATCACCCAGCCCTAGGAGGGTGCTCACCACTGCGGGGAGTGGAGGCGGCTGTGGGGTGGCTCCACTCACTCCAGATCCCGGCTTTCTTGGAGCCATAGATGCCAAAGGGGTTGCAGCGCACTTGCACGAAGTACACGGTGCCGGGTTTCAGGCCGGCCAGGCGGCAGGAGGTCTGGTTGCTCACATCGTCCACCACCTGGACAGTGAGGACAAGGTCAGAGTAGAGGGCGGGGCCTAGCAGGAGCGGGGGCGGGGCCTGGAAGGAACAGGGGCGGAGTCAGGGAAGGGGAGGGTCACCTTCCAGTCCACACTGTCCTCCACTCGGTAGCGGATCTGGTATTTGGCTTGAAAGAGGAAATCCTTGAGGGCGGGTGGCGACACCCAGCGCACGCTCAGCTGGTCCTCCAGGCCCCCGACGCGGCTCACGTGCACGTCGGGCGGGGGGTCCGTGGTCACTGCGGGGCAGAGGAGGGACCCTCTCAGCCTGGGACTGTCTGGGTTTAACTCCCCCCAGCAGTGTGGCCCAGGGCACTTGGCCTAGATGGAACCTGCCTCTGTTTTCCTCCTCTTCCCTCTGCCCCCACCCCCAGGACTGGTGGATTACACGATATATAATATTGGAGAAACACTCAGCACCTAATTAATGTTAGCTGTTATCACCATTATTATCTGTGACGGGAGAAACATAATCCTATCTTCAACTGACTATGGGAAAGCAGCCATTGCGGGGTTGATGATATTATTATTATCATGCTTAGGAGGCCAGGGGCTGTCAGGCCGTCAGCCTTCTGGGAACCTCCCTGCCACCCCCTCCCCACTCACACCTCCCTTCCACTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAATTGTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTCCCTTCCACTCTTACTGAAATCTTTGATGTGACATTTTGCTGGGTGCAGAGAAGCAACTGAGGCTTAGAACTTTCCCACTGTAGCGTTAGGATGTGGGGAAGAGTGAGGCAGGCTGCGGGGGCAGGGATGGGGGCTACAACCCAGGCGTATGTGTGTGTTGGGGGGTTCTGAGGATCCTTCTGGGGGCCCCTGAGGGCAGCAGGGTGAGCTGGCCTCTCCCCCTGAGGCCTTGGTGAGGGGCCTAAAGGGTTAAGGCACAGGCCTGCTTGGGGCTGAGAAACACCCTAATTAGATTAGGCTCAATTCTGCTCACAGATCATCCATTTCCTGCCTCCCGCCCTGCGCCCCCCAGCTCCAGGCCTCGGCTTCCTGGGGCGCCTCCCGACCTGGGCGCCCCCTCCCCTCTCCCCAGGGCCCCCTCCTGCACACCTGGGCTGCCGAGGGGGTGGTGGCCAGGCCAGGTGTTCTCTGTGGAGTGGGGGTATCCTGGCTGTTTCTGGGGGCTGCGGACTGATGAGCGGATGCTCAGCTACTTACCTACCTTCCCTCTGACCAGCAGGGACAACCCGGGAGTTGCCGGGCTGGGGAGGGGCAGGTGGGACCCTAGGAAAAATGAGAAGGTGCAGGGGACCCCTCGGGATGCTCGGTGGGTGGGGCTGGTGCCGAGGGAGGGGCCTAGCAGACACTGGGGGCTCACCCACATCCAGGATATCCAGCGTGAGTACATCGGAGCGGGCAGAGCCCAGGCGGTTGGTGGCCTCCACCCAGATCTCATAGGGCGTAAAGAGAGCCAGGTCCTTGGGGATGTGGCAGGAGTGGGGCCCCACTGTGTGGTACTCCTCACATGTGTTGTCCTGGCCATACCACCTGCGGGGATGGGAGGGCGACAGGACGCATGAGGGTTCCTTGTGGCCCCCAGACCTCACCATGGCAGCCTCAGGGTGCAGACAACACATGGGGGCTCAGAGAGGGTCCGCGTTGGTCAAGGTCACGCAGCCAGCCTGGGACACACACATCGCCCTCAGGCCACCACCAACCTAAGCTTGTACTTGAGGGAGTAGTTGGTGTGGAGGAAGGTCTCCCCGTGGGCCCCTGGCGTCCAGCGGCAGGTCAAGTCCTTCATGTTCTTGGACCAGCAGCTGATGTTGACGGGTTTCTCTGGGGGCACTGGGAGAAGGGGAGGGTGCAGGAAGCAGGCTGAGGGTCTGGACTAGCTGAGCCTCGGCTGAGGGGTTGCTGCCCACCCACCAGGCCCCCACCTTGGAGTGGAAGGAGGGCAGACAGGACAGTCTCAGCCCTGTGCTGAGAAATGCCAGCACAGTTGGTGTGACAACTGCAAGGGCTCT
|
AGGGAGACCGAGTGCAAGATGACCCCATGGGACTGTCCCCAGCATGGGCCCATGGGACAGGGAGTGGGCCAGGAGGGCCAGGTGGGAGGCCTGCCTGTCGGTCCAGCTGCCGGCTGCAGCCAGCCCCCAGCAGGCCGGCGGATAAGGACATCGGCCTCACGTCATAAATAAAGCCGGGGACCCGCTGACAGGCCCTGGCACGGCCCCGGCCCCCGCCGCCCCTGCTGGCCTTCCCCGGCCTCCCCAGCCTCCCCTGCGGACGCAGCGGCCTGCTGGCTCCTGTGCAAGAATCGCAGGTGCCGGGCACGAGCAGGGGCCAAGGCTCAGGCCCCTCCCGGCTGCGCTTGCTCCCGCCCACCCCTGAACCTGGAGGGGCCCAGGATAGGGGCTGGGGAGCTGGCTGGAGCCTGACTCTACCCCTCCCTAGCTCTGGGACCCTCTCTGGGCCTCAGTTTCCCTATCATCTCACGAGCCAGAGTGAGCTTGGTCTTCCCGGTGAACTAAGTTTAGACCTGTGTGACCTCCTAGAGCCTCAGTGTCCTCACCTGAGAAAAAGCGGCCTCCCTTGCAGTGAAACCCTGGGGGGATGGGACAATAAGTACCTCCATGCCAACTGCCTGCAAACACTTAGGTGGCACCCACCATGTGGGCACTTGCCACAAATTATGTCATCCAACCCTCATAACAGCCCAAGGCAAGTGGGATTCTCGACCCCACCTTCCAGATGGGGAAACGGAGGCCAGACATTCCAAGTAACAGCTTTCGTTTCATTTCACAAAAGAGAGACTAGAGGCCTGTGGACCCGGAGAAATCCCAGACAGCAAGAGGAAGCAGACCTAGGCACCTAATCATTCCCATCCCCCTGCCTTGATCAGAAGGAGAAATTGAGGCCCATCAAAGTGGGAGTTGGCAGCCCATTGGCCTTAGAAGCAGGGGTCTCAAACTCACTGGCCCCCTCTTAGGAGGGAGTCTGAGTGGCCAAAACAGACCAGATGGGGATGGGCAAATGGAGAGTGAGGGTCCTGAGAAGGGGAGACCACTGCTGGTGGGGGCTGTAGGCCATGCTGTTACATTTTCTAGATAATTTATTTTTCTAGGGAATCTAGGATATTTGTGTAAAAACTTCCTGGGTTTAAAATTTCTACTAGTTGGTCAAACTTTTTTTTTGTTTTCCAAACAACAGGCCAAAGAAAATAGATCCAAGGGCCACATTCAGCTCTGGGGGGGCCACCAGTTTGAGACTTCTACTCTCTTGGAGACAATCAGGAAACAGGCTGGGCATGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAATGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAAATACAAAAATTAGCTGTGCATGTTGGCGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTCAGGTAGGAGAATCGCTTGAAACCGGGAGGCAGAGGTTGCAGTGAGTGCAGATCACACCACTATGCGACAGAATGAGGCCGTGTCTCAAAAGAAAAAAAAAAGAAAAGAAAACAAGGAAACAGAGGCTCTAGCTGGTTTCGGACTGGCCGCTGGATCACCCAGCCCTAGGAGGGTGCTCACCACTGCGGGGAGTGGAGGCGGCTGTGGGGTGGCTCCACTCACTCCAGATCCCGGCTTTCTTGGAGCCATAGATGCCAAAGGGGTTGCAGCGCACTTGCACGAAGTACACGGTGCCGGGTTTCAGGCCGGCCAGGCGGCAGGAGGTCTGGTTGCTCACATCGTCCACCACCTGGACAGTGAGGACAAGGTCAGAGTAGAGGGCGGGGCCTAGCAGGAGCGGGGGCGGGGCCTGGAAGGAACAGGGGCGGAGTCAGGGAAGGGGAGGGTCACCTTCCAGTCCACACTGTCCTCCACTCGGTAGCGGATCTGGTATTTGGCTTGAAAGAGGAAATCCTTGAGGGCGGGTGGCGACACCCAGCGCACGCTCAGCTGGTCCTCCAGGCCCCCGACGCGGCTCACGTGCACGTCGGGCGGGGGGGTCCGTGGTCACTGCGGGGCAGAGGAGGGACCCTCTCAGCCTGGGACTGTCTGGGTTTAACTCCCCCCAGCAGTGTGGCCCAGGGCACTTGGCCTAGATGGAACCTGCCTCTGTTTTCCTCCTCTTCCCTCTGCCCCCACCCCCAGGACTGGTGGATTACACGATATATAATATTGGAGAAACACTCAGCACCTAATTAATGTTAGCTGTTATCACCATTATTATCTGTGACGGGAGAAACATAATCCTATCTTCAACTGACTATGGGAAAGCAGCCATTGCGGGGTTGATGATATTATTATTATCATGCTTAGGAGGCCAGGGGCTGTCAGGCCGTCAGCCTTCTGGGAACCTCCCTGCCACCCCCTCCCCACTCACACCTCCCTTCCACTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAATTGTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTCCCTTCCACTCTTACTGAAATCTTTGATGTGACATTTTGCTGGGTGCAGAGAAGCAACTGAGGCTTAGAACTTTCCCACTGTAGCGTTAGGATGTGGGGAAGAGTGAGGCAGGCTGCGGGGGCAGGGATGGGGGCTACAACCCAGGCGTATGTGTGTGTTGGGGGGTTCTGAGGATCCTTCTGGGGGCCCCTGAGGGCAGCAGGGTGAGCTGGCCTCTCCCCCTGAGGCCTTGGTGAGGGGCCTAAAGGGTTAAGGCACAGGCCTGCTTGGGGCTGAGAAACACCCTAATTAGATTAGGCTCAATTCTGCTCACAGATCATCCATTTCCTGCCTCCCGCCCTGCGCCCCCCAGCTCCAGGCCTCGGCTTCCTGGGGCGCCTCCCGACCTGGGCGCCCCCTCCCCTCTCCCCAGGGCCCCCTCCTGCACACCTGGGCTGCCGAGGGGGTGGTGGCCAGGCCAGGTGTTCTCTGTGGAGTGGGGGTATCCTGGCTGTTTCTGGGGGCTGCGGACTGATGAGCGGATGCTCAGCTACTTACCTACCTTCCCTCTGACCAGCAGGGACAACCCGGGAGTTGCCGGGCTGGGGAGGGGCAGGTGGGACCCTAGGAAAAATGAGAAGGTGCAGGGGACCCCTCGGGATGCTCGGTGGGTGGGGCTGGTGCCGAGGGAGGGGCCTAGCAGACACTGGGGGCTCACCCACATCCAGGATATCCAGCGTGAGTACATCGGAGCGGGCAGAGCCCAGGCGGTTGGTGGCCTCCACCCAGATCTCATAGGGCGTAAAGAGAGCCAGGTCCTTGGGGATGTGGCAGGAGTGGGGCCCCACTGTGTGGTACTCCTCACATGTGTTGTCCTGGCCATACCACCTGCGGGGATGGGAGGGCGACAGGACGCATGAGGGTTCCTTGTGGCCCCCAGACCTCACCATGGCAGCCTCAGGGTGCAGACAACACATGGGGGCTCAGAGAGGGTCCGCGTTGGTCAAGGTCACGCAGCCAGCCTGGGACACACACATCGCCCTCAGGCCACCACCAACCTAAGCTTGTACTTGAGGGAGTAGTTGGTGTGGAGGAAGGTCTCCCCGTGGGCCCCTGGCGTCCAGCGGCAGGTCAAGTCCTTCATGTTCTTGGACCAGCAGCTGATGTTGACGGGTTTCTCTGGGGGCACTGGGAGAAGGGGAGGGTGCAGGAAGCAGGCTGAGGGTCTGGACTAGCTGAGCCTCGGCTGAGGGGTTGCTGCCCACCCACCAGGCCCCCACCTTGGAGTGGAAGGAGGGCAGACAGGACAGTCTCAGCCCTGTGCTGAGAAATGCCAGCACAGTTGGTGTGACAACTGCAAGGGCTC
|
pathogenic
| 301,484 |
Is the genetic mutation found on chromosome 19 at position 18606579, within the gene CRLF1 (cytokine receptor like factor 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
GGCTCAGAAGCCTGAAGCCCCCAGGAGCTGCAAAGATGACAGCCCCTCCCAGCTCTGGGGTCCCGGCTGACTAGGCACTCCCTCCAGGCCTCCACAAACAATGGGCTAAGGCGCTGGGGACAGAGATGCACGCACTCCAGGCCAGGCAGGGGAGCAGCTGGGAACAGCCCACTGAGCCGGAGTTGGTGGGGGCTTGGCTTGGTTTGGAGGGCCTCCTAGGGCTCCCCAAAGCAGATCCCTAGGTTGGGCTTTTGAACAGCTCCCTTTTCACTCCCTGCCTCCCCTCCTTTCCCGCAGAGCTGGGGCCTTTAAAAGTTTTTTCTCTCCTCTTTTCCCAATCTGGAGCCACTGCCGTTATTAAAAAGGAACACCATGTGTTTTAAAAGGGAAAAGTGTGAGATTCTCTGCAAGCAGGGCGGAAGGGTGGCCTCCATCCCAGGGTCCCCACGGGGGTCCCCATCTCCCGTCCCGCTGGTACCTGCAGACACTTTACGACCCACCCGCCTGCTGGTCAGGTGCTAAGACACACCGTAAGTAGAAACATATTGCCGAGGTGTGAGAATCTTTTATTTAATTTCTTCCCCCCTTAAAGGAAAAAACACACTTACAGTGCCCCCCCACCCCCTACACCTTCGCCTGCTGCTCTACTGGCTGAAAACAAAGCTTGGCGCTCACAGTGGCACTCACAGGCGCTGCCCACCGCCTGGCAGAGCCGTCAGGGGCCCTGGGAGGGCCCGAGGTAGCCCCTCACCTGAAAGCCAGGGGAGAGCCAGGCTTTCAGCAAGTGCCCCTAGAAGATGCCCGGACCCTGCCCCTTCCCGGAGGAGCCCTACAGGCAGCCCGCAAACAGCCCAGCACAGGGTGGATGAGCCTGGGAGCAGTGTGTGCCCGGCGACCCCCGGGGTGGCCCGTGCGCCTGGATGGGGTGCGTGGAGTGACTGAACATCTGGGGCGAGTGGTGCCTGCCTCTGTGCCCCTGGGTCGCCTCCCCTGTGGGATGTGTGTGACCGTGAATGTGTGTGTCGGGGATGGAATGTGTGTGCGTCCGCGATGGTGCGCGAATGTGCACCTGGGATGCAGTGTGCGCGAGTTTGAGGGCGAGGGTGACGGGCCACAAGCCAGTGTGATTCTTTGTGTGTCTCTGGGTGTGTCCCAGAGCGGGTCTGCATACGGAGACGTATCCTTGCGGGGGTGTTCCTTGGATGGGGGGCCCCAGAGTGCCTGAGGCCAGAAGTCCCTCCAGGGCAGGGGTCTTGGCCCGTAGGGCAGCGGGTTCCCAGTGGGCCCCCTCAAAGTTTGGGCCCGCTGGTGCCCGGACTCACTGGCTCCCGCTCCCTCTCCCTCTCACCCACTCGCTCACAAAGATTCCTCTCGCTGGAGGCTCTCCGCCCGACGCAGCCTGGCTGAAAACGGTTCTAAGCGCCGCCGGTGGCGGGGACTCCGCGGACCCCCGTGCGCCGGGTCCCGCAGGGGGAGGGCGGTGGCGCCGGCCCGTGGAGACACAAGTCCCCCGGGACCCCGGGCTGCGCGCCAGGCGGCCAGAGCGGCCCCCCTGCAGCCCCGCCCTCCCCGTGGGGCTCATCCCTCCGCCTGGGGGGGCCCGCTGGGGGCCCGCACCCAGCGCGCCAACCGCGTGCGCCCCCGCCTGGGAGCGGTGCCCTGCAGTCCCAGGGGCCCAGAGTCCACCGAAGCAGACGCGTGCGCCCGCCACGTCCTGGCATGCAGAGGGTCTCAGGCCGCGATCCCCCCAGCCCCCGGGGGCCTGGCCTGGCGCCCTCGGCCCAGCTGCCCAGGTAACAGGGCCTCGGGCGCGGAAGCAGGACTCTCTGGACAGTGGACTGCGGCGCCGTGTGCCCCGCAGGTGAGGGCGCCCCGAGGGCTGCGCCGGGGGCGCCTTCCTTTGTTCCCCGGCCGTCCAGGTGGCGCCCGCGCCCCCTCCCCCCGCGGCTGCCCCCGGGGCGCCCGCCCTCTGCTCTGGCAGGGGGGAAGGAGTGGGGCGCCGGGTACTCACGGGCTCCTGATCCGGCTCGCGGCGCCCCGAGGACGCAGAGCAGCAGCAGCAGGGGCAGCAACGGCGGCGGCCGCCGCGCGGATTGGGCGGCGGGGCCCCGGCGGCCGGCGGGCATGGGGCCGGCGCTGCCGGGGGCGCGCGGCGGGCTGCGGCTCGGCGGCGGTGGCGCAGGGCGCGGGACGCAGGCCGGGCGCGGGAGGGCGCGGGCCAGGCCGCCCGCACGTCGCTGGGCGCGGACGCGGAGGCCGGAGCAAGTCTGAGCAGCCGAATTGACAAGGCGCTAATGCGCCGCTGGCCCCGCCCGGCCCCGCCCCCGGCCCGGCCCGGCCCCGGGGGGGCGGCGGGCCCCGCACCGGCCTCCCCGCCGCCCGCCCGCCCGCGGGCACCGCGCGCCCCGCCCGTCCCGCCTCCGCCCCACCGAGAACCGCGCGCGCCCTATCCCGCGGCCCAAAGCCCCCTAACTCAACCCCTACCGGCCCAGGACCTCCCTCTCCAACCCTGCCAGCTCCAGGCTTCCCACCCCCAGTCTGGGACCCGGCACCCCCAATCCCGTTTCCATAACCCTGCCCACTTCCCTGCACCCTCCTCTCAGCCCAGTGCCTCTTCAGTGGCCCCTTTGGTCCCCAACCCTGCCCCACTCCTCCATTCCCCCTTCCACGGCCCAATCTTCTGTCTCGGCCCCCACCCCAGCTCTGGCCCCGCCCCCCCCACCGAGCGGTCCTTGAGTCCCGCCTACCCCCATCTCCAGCCCCTCAGCCTTCCCAGGGGCCTAAAAGTCACCCCCAGCCCCACGCCCTCGGCGCGCGGGTTCCAGCCCTCCCACCTCATCCTGCCTCTTTTCGATTCTCCGCGAGTAGCCTCGGCCCCAGGCTTTGCTGGAAGAAAGGAGAAAAAGCAGGAAGGCACGGAGTCCCTCGCCTTCGCCCTGGCTGCGCTGTCCCCTTCGCGCGCGGGATGGGTTTGAGGTTGCTCTGGGCGCCCCGGGGGCCTCGGGAGGGAGCTCCTGCGTGGGCAGACGGGGAGATGTAGTCCCCTGTGGGAGCCGGGACCCAGGCCTGCGCGGGAACTGGGTCCCGCACCGCAGTAAGAGGGATTCCCAGGAGGAGAGCGGTAAGAAGCTCTTTCCCCGGGACCTATTCACACCCCGCCACGGAAAAATCCACTCAGCGGCCCGCGGGTGGGGTGCGCCACGCGGTGAGTAATCGCTTCGGCGGCCACCGCCCGCCGACTCCAGGTAACGCCGGCTGCCCGGAGCGACGCATAGTTTGTCTTCCTTCTTTTGCGCAAAGAGCCTTCTCCGTGTTATTATTTTTGGCCATTGCTCGAGTTTCGGGACCCCTCCCGGTCCGGGCGTCTCATCTCCCTCCTCCCGGTCCCCACCCGATGCGGGCGCCCAGGAATAAAGGGTTCCTGGCCTCCAAGGCTGCTGCGGATGGGGGTGCCTGAAATGAGAGTTGGGGGGTGCAATTACCCACTTTTGGTCGCAGCCCCGCCCCCAGCTGCAGCGCCCAGGGAAGGGAACGGCTCCAAGTCCCCTTTTCCAGGAGTCCCTTAGAGGCCTGGATTCTCTCTCCTGGTCCCCAACCAGCCAAGGGGGTAAAAGTGTCTGAGGGGGGCTCAGGAGCCCCCATTTGTCTGCCCAAGACTGAAGCCCCACCCTCTCCTACTTAAATCTCCAGTTCAGACTCCAGACTGTCAAAAAACAAGATTGGGGGATGGGAGCCTATAGGGGCCCAGGGCGCCCCTGCTCCATCTGAATTCTGGATGGAGAAGACAGACAAGGAGAGACGCTGCCATTTACTTCGGGAAACCAGGCCTTTTGTGCCTCAGTTTCTTCCTCTGCACAGTGGGCACCACCCAGTCTAGGAGCTTCTGTGGGAAGACGCAGGGCAGCAGAAGTCTCTACAATCCAAGCCCTTAGCACAGCACTGGAGGATATCCTGGAGCAGAGGTGACCCCCAGCCCTGCTTGTCCCCTCTGAAACATGGAGCCATAGTCCCACCTGCCAGGGGACCCAGAGGGTTAAGTGGAGGTGGCAGTCCTTGGCTGGAATTGAGTTTTTAGGATACTCACCACTACTCCCCC
|
GGCTCAGAAGCCTGAAGCCCCCAGGAGCTGCAAAGATGACAGCCCCTCCCAGCTCTGGGGTCCCGGCTGACTAGGCACTCCCTCCAGGCCTCCACAAACAATGGGCTAAGGCGCTGGGGACAGAGATGCACGCACTCCAGGCCAGGCAGGGGAGCAGCTGGGAACAGCCCACTGAGCCGGAGTTGGTGGGGGCTTGGCTTGGTTTGGAGGGCCTCCTAGGGCTCCCCAAAGCAGATCCCTAGGTTGGGCTTTTGAACAGCTCCCTTTTCACTCCCTGCCTCCCCTCCTTTCCCGCAGAGCTGGGGCCTTTAAAAGTTTTTTCTCTCCTCTTTTCCCAATCTGGAGCCACTGCCGTTATTAAAAAGGAACACCATGTGTTTTAAAAGGGAAAAGTGTGAGATTCTCTGCAAGCAGGGCGGAAGGGTGGCCTCCATCCCAGGGTCCCCACGGGGGTCCCCATCTCCCGTCCCGCTGGTACCTGCAGACACTTTACGACCCACCCGCCTGCTGGTCAGGTGCTAAGACACACCGTAAGTAGAAACATATTGCCGAGGTGTGAGAATCTTTTATTTAATTTCTTCCCCCCTTAAAGGAAAAAACACACTTACAGTGCCCCCCCACCCCCTACACCTTCGCCTGCTGCTCTACTGGCTGAAAACAAAGCTTGGCGCTCACAGTGGCACTCACAGGCGCTGCCCACCGCCTGGCAGAGCCGTCAGGGGCCCTGGGAGGGCCCGAGGTAGCCCCTCACCTGAAAGCCAGGGGAGAGCCAGGCTTTCAGCAAGTGCCCCTAGAAGATGCCCGGACCCTGCCCCTTCCCGGAGGAGCCCTACAGGCAGCCCGCAAACAGCCCAGCACAGGGTGGATGAGCCTGGGAGCAGTGTGTGCCCGGCGACCCCCGGGGTGGCCCGTGCGCCTGGATGGGGTGCGTGGAGTGACTGAACATCTGGGGCGAGTGGTGCCTGCCTCTGTGCCCCTGGGTCGCCTCCCCTGTGGGATGTGTGTGACCGTGAATGTGTGTGTCGGGGATGGAATGTGTGTGCGTCCGCGATGGTGCGCGAATGTGCACCTGGGATGCAGTGTGCGCGAGTTTGAGGGCGAGGGTGACGGGCCACAAGCCAGTGTGATTCTTTGTGTGTCTCTGGGTGTGTCCCAGAGCGGGTCTGCATACGGAGACGTATCCTTGCGGGGGTGTTCCTTGGATGGGGGGCCCCAGAGTGCCTGAGGCCAGAAGTCCCTCCAGGGCAGGGGTCTTGGCCCGTAGGGCAGCGGGTTCCCAGTGGGCCCCCTCAAAGTTTGGGCCCGCTGGTGCCCGGACTCACTGGCTCCCGCTCCCTCTCCCTCTCACCCACTCGCTCACAAAGATTCCTCTCGCTGGAGGCTCTCCGCCCGACGCAGCCTGGCTGAAAACGGTTCTAAGCGCCGCCGGTGGCGGGGACTCCGCGGACCCCCGTGCGCCGGGTCCCGCAGGGGGAGGGCGGTGGCGCCGGCCCGTGGAGACACAAGTCCCCCGGGACCCCGGGCTGCGCGCCAGGCGGCCAGAGCGGCCCCCCTGCAGCCCCGCCCTCCCCGTGGGGCTCATCCCTCCGCCTGGGGGGGCCCGCTGGGGGCCCGCACCCAGCGCGCCAACCGCGTGCGCCCCCGCCTGGGAGCGGTGCCCTGCAGTCCCAGGGGCCCAGAGTCCACCGAAGCAGACGCGTGCGCCCGCCACGTCCTGGCATGCAGAGGGTCTCAGGCCGCGATCCCCCCAGCCCCCGGGGGCCTGGCCTGGCGCCCTCGGCCCAGCTGCCCAGGTAACAGGGCCTCGGGCGCGGAAGCAGGACTCTCTGGACAGTGGACTGCGGCGCCGTGTGCCCCGCAGGTGAGGGCGCCCCGAGGGCTGCGCCGGGGGCGCCTTCCTTTGTTCCCCGGCCGTCCAGGTGGCGCCCGCGCCCCCTCCCCCCGCGGCTGCCCCCGGGGCGCCCGCCCTCTGCTCTGGCAGGGGGGAAGGAGTGGGGCGCCGGGTACTCACGGGCTCCTGATCCGGCTCGCGGCGCCCCGAGGACGCAGAGCAGCAGCAGGGGCAGCAACGGCGGCGGCCGCCGCGCGGATTGGGCGGCGGGGCCCCGGCGGCCGGCGGGCATGGGGCCGGCGCTGCCGGGGGCGCGCGGCGGGCTGCGGCTCGGCGGCGGTGGCGCAGGGCGCGGGACGCAGGCCGGGCGCGGGAGGGCGCGGGCCAGGCCGCCCGCACGTCGCTGGGCGCGGACGCGGAGGCCGGAGCAAGTCTGAGCAGCCGAATTGACAAGGCGCTAATGCGCCGCTGGCCCCGCCCGGCCCCGCCCCCGGCCCGGCCCGGCCCCGGGGGGGCGGCGGGCCCCGCACCGGCCTCCCCGCCGCCCGCCCGCCCGCGGGCACCGCGCGCCCCGCCCGTCCCGCCTCCGCCCCACCGAGAACCGCGCGCGCCCTATCCCGCGGCCCAAAGCCCCCTAACTCAACCCCTACCGGCCCAGGACCTCCCTCTCCAACCCTGCCAGCTCCAGGCTTCCCACCCCCAGTCTGGGACCCGGCACCCCCAATCCCGTTTCCATAACCCTGCCCACTTCCCTGCACCCTCCTCTCAGCCCAGTGCCTCTTCAGTGGCCCCTTTGGTCCCCAACCCTGCCCCACTCCTCCATTCCCCCTTCCACGGCCCAATCTTCTGTCTCGGCCCCCACCCCAGCTCTGGCCCCGCCCCCCCCACCGAGCGGTCCTTGAGTCCCGCCTACCCCCATCTCCAGCCCCTCAGCCTTCCCAGGGGCCTAAAAGTCACCCCCAGCCCCACGCCCTCGGCGCGCGGGTTCCAGCCCTCCCACCTCATCCTGCCTCTTTTCGATTCTCCGCGAGTAGCCTCGGCCCCAGGCTTTGCTGGAAGAAAGGAGAAAAAGCAGGAAGGCACGGAGTCCCTCGCCTTCGCCCTGGCTGCGCTGTCCCCTTCGCGCGCGGGATGGGTTTGAGGTTGCTCTGGGCGCCCCGGGGGCCTCGGGAGGGAGCTCCTGCGTGGGCAGACGGGGAGATGTAGTCCCCTGTGGGAGCCGGGACCCAGGCCTGCGCGGGAACTGGGTCCCGCACCGCAGTAAGAGGGATTCCCAGGAGGAGAGCGGTAAGAAGCTCTTTCCCCGGGACCTATTCACACCCCGCCACGGAAAAATCCACTCAGCGGCCCGCGGGTGGGGTGCGCCACGCGGTGAGTAATCGCTTCGGCGGCCACCGCCCGCCGACTCCAGGTAACGCCGGCTGCCCGGAGCGACGCATAGTTTGTCTTCCTTCTTTTGCGCAAAGAGCCTTCTCCGTGTTATTATTTTTGGCCATTGCTCGAGTTTCGGGACCCCTCCCGGTCCGGGCGTCTCATCTCCCTCCTCCCGGTCCCCACCCGATGCGGGCGCCCAGGAATAAAGGGTTCCTGGCCTCCAAGGCTGCTGCGGATGGGGGTGCCTGAAATGAGAGTTGGGGGGTGCAATTACCCACTTTTGGTCGCAGCCCCGCCCCCAGCTGCAGCGCCCAGGGAAGGGAACGGCTCCAAGTCCCCTTTTCCAGGAGTCCCTTAGAGGCCTGGATTCTCTCTCCTGGTCCCCAACCAGCCAAGGGGGTAAAAGTGTCTGAGGGGGGCTCAGGAGCCCCCATTTGTCTGCCCAAGACTGAAGCCCCACCCTCTCCTACTTAAATCTCCAGTTCAGACTCCAGACTGTCAAAAAACAAGATTGGGGGATGGGAGCCTATAGGGGCCCAGGGCGCCCCTGCTCCATCTGAATTCTGGATGGAGAAGACAGACAAGGAGAGACGCTGCCATTTACTTCGGGAAACCAGGCCTTTTGTGCCTCAGTTTCTTCCTCTGCACAGTGGGCACCACCCAGTCTAGGAGCTTCTGTGGGAAGACGCAGGGCAGCAGAAGTCTCTACAATCCAAGCCCTTAGCACAGCACTGGAGGATATCCTGGAGCAGAGGTGACCCCCAGCCCTGCTTGTCCCCTCTGAAACATGGAGCCATAGTCCCACCTGCCAGGGGACCCAGAGGGTTAAGTGGAGGTGGCAGTCCTTGGCTGGAATTGAGTTTTTAGGATACTCACCACTACTCCCCCNNN
|
benign
| 301,498 |
The genetic variant at chromosome 19, position 18606603, affecting gene CRLF1 (cytokine receptor like factor 1): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Cold-induced_sweating_syndrome', 'Cold-induced_sweating_syndrome_1']
|
GAGCTGCAAAGATGACAGCCCCTCCCAGCTCTGGGGTCCCGGCTGACTAGGCACTCCCTCCAGGCCTCCACAAACAATGGGCTAAGGCGCTGGGGACAGAGATGCACGCACTCCAGGCCAGGCAGGGGAGCAGCTGGGAACAGCCCACTGAGCCGGAGTTGGTGGGGGCTTGGCTTGGTTTGGAGGGCCTCCTAGGGCTCCCCAAAGCAGATCCCTAGGTTGGGCTTTTGAACAGCTCCCTTTTCACTCCCTGCCTCCCCTCCTTTCCCGCAGAGCTGGGGCCTTTAAAAGTTTTTTCTCTCCTCTTTTCCCAATCTGGAGCCACTGCCGTTATTAAAAAGGAACACCATGTGTTTTAAAAGGGAAAAGTGTGAGATTCTCTGCAAGCAGGGCGGAAGGGTGGCCTCCATCCCAGGGTCCCCACGGGGGTCCCCATCTCCCGTCCCGCTGGTACCTGCAGACACTTTACGACCCACCCGCCTGCTGGTCAGGTGCTAAGACACACCGTAAGTAGAAACATATTGCCGAGGTGTGAGAATCTTTTATTTAATTTCTTCCCCCCTTAAAGGAAAAAACACACTTACAGTGCCCCCCCACCCCCTACACCTTCGCCTGCTGCTCTACTGGCTGAAAACAAAGCTTGGCGCTCACAGTGGCACTCACAGGCGCTGCCCACCGCCTGGCAGAGCCGTCAGGGGCCCTGGGAGGGCCCGAGGTAGCCCCTCACCTGAAAGCCAGGGGAGAGCCAGGCTTTCAGCAAGTGCCCCTAGAAGATGCCCGGACCCTGCCCCTTCCCGGAGGAGCCCTACAGGCAGCCCGCAAACAGCCCAGCACAGGGTGGATGAGCCTGGGAGCAGTGTGTGCCCGGCGACCCCCGGGGTGGCCCGTGCGCCTGGATGGGGTGCGTGGAGTGACTGAACATCTGGGGCGAGTGGTGCCTGCCTCTGTGCCCCTGGGTCGCCTCCCCTGTGGGATGTGTGTGACCGTGAATGTGTGTGTCGGGGATGGAATGTGTGTGCGTCCGCGATGGTGCGCGAATGTGCACCTGGGATGCAGTGTGCGCGAGTTTGAGGGCGAGGGTGACGGGCCACAAGCCAGTGTGATTCTTTGTGTGTCTCTGGGTGTGTCCCAGAGCGGGTCTGCATACGGAGACGTATCCTTGCGGGGGTGTTCCTTGGATGGGGGGCCCCAGAGTGCCTGAGGCCAGAAGTCCCTCCAGGGCAGGGGTCTTGGCCCGTAGGGCAGCGGGTTCCCAGTGGGCCCCCTCAAAGTTTGGGCCCGCTGGTGCCCGGACTCACTGGCTCCCGCTCCCTCTCCCTCTCACCCACTCGCTCACAAAGATTCCTCTCGCTGGAGGCTCTCCGCCCGACGCAGCCTGGCTGAAAACGGTTCTAAGCGCCGCCGGTGGCGGGGACTCCGCGGACCCCCGTGCGCCGGGTCCCGCAGGGGGAGGGCGGTGGCGCCGGCCCGTGGAGACACAAGTCCCCCGGGACCCCGGGCTGCGCGCCAGGCGGCCAGAGCGGCCCCCCTGCAGCCCCGCCCTCCCCGTGGGGCTCATCCCTCCGCCTGGGGGGGCCCGCTGGGGGCCCGCACCCAGCGCGCCAACCGCGTGCGCCCCCGCCTGGGAGCGGTGCCCTGCAGTCCCAGGGGCCCAGAGTCCACCGAAGCAGACGCGTGCGCCCGCCACGTCCTGGCATGCAGAGGGTCTCAGGCCGCGATCCCCCCAGCCCCCGGGGGCCTGGCCTGGCGCCCTCGGCCCAGCTGCCCAGGTAACAGGGCCTCGGGCGCGGAAGCAGGACTCTCTGGACAGTGGACTGCGGCGCCGTGTGCCCCGCAGGTGAGGGCGCCCCGAGGGCTGCGCCGGGGGCGCCTTCCTTTGTTCCCCGGCCGTCCAGGTGGCGCCCGCGCCCCCTCCCCCCGCGGCTGCCCCCGGGGCGCCCGCCCTCTGCTCTGGCAGGGGGGAAGGAGTGGGGCGCCGGGTACTCACGGGCTCCTGATCCGGCTCGCGGCGCCCCGAGGACGCAGAGCAGCAGCAGCAGGGGCAGCAACGGCGGCGGCCGCCGCGCGGATTGGGCGGCGGGGCCCCGGCGGCCGGCGGGCATGGGGCCGGCGCTGCCGGGGGCGCGCGGCGGGCTGCGGCTCGGCGGCGGTGGCGCAGGGCGCGGGACGCAGGCCGGGCGCGGGAGGGCGCGGGCCAGGCCGCCCGCACGTCGCTGGGCGCGGACGCGGAGGCCGGAGCAAGTCTGAGCAGCCGAATTGACAAGGCGCTAATGCGCCGCTGGCCCCGCCCGGCCCCGCCCCCGGCCCGGCCCGGCCCCGGGGGGGCGGCGGGCCCCGCACCGGCCTCCCCGCCGCCCGCCCGCCCGCGGGCACCGCGCGCCCCGCCCGTCCCGCCTCCGCCCCACCGAGAACCGCGCGCGCCCTATCCCGCGGCCCAAAGCCCCCTAACTCAACCCCTACCGGCCCAGGACCTCCCTCTCCAACCCTGCCAGCTCCAGGCTTCCCACCCCCAGTCTGGGACCCGGCACCCCCAATCCCGTTTCCATAACCCTGCCCACTTCCCTGCACCCTCCTCTCAGCCCAGTGCCTCTTCAGTGGCCCCTTTGGTCCCCAACCCTGCCCCACTCCTCCATTCCCCCTTCCACGGCCCAATCTTCTGTCTCGGCCCCCACCCCAGCTCTGGCCCCGCCCCCCCCACCGAGCGGTCCTTGAGTCCCGCCTACCCCCATCTCCAGCCCCTCAGCCTTCCCAGGGGCCTAAAAGTCACCCCCAGCCCCACGCCCTCGGCGCGCGGGTTCCAGCCCTCCCACCTCATCCTGCCTCTTTTCGATTCTCCGCGAGTAGCCTCGGCCCCAGGCTTTGCTGGAAGAAAGGAGAAAAAGCAGGAAGGCACGGAGTCCCTCGCCTTCGCCCTGGCTGCGCTGTCCCCTTCGCGCGCGGGATGGGTTTGAGGTTGCTCTGGGCGCCCCGGGGGCCTCGGGAGGGAGCTCCTGCGTGGGCAGACGGGGAGATGTAGTCCCCTGTGGGAGCCGGGACCCAGGCCTGCGCGGGAACTGGGTCCCGCACCGCAGTAAGAGGGATTCCCAGGAGGAGAGCGGTAAGAAGCTCTTTCCCCGGGACCTATTCACACCCCGCCACGGAAAAATCCACTCAGCGGCCCGCGGGTGGGGTGCGCCACGCGGTGAGTAATCGCTTCGGCGGCCACCGCCCGCCGACTCCAGGTAACGCCGGCTGCCCGGAGCGACGCATAGTTTGTCTTCCTTCTTTTGCGCAAAGAGCCTTCTCCGTGTTATTATTTTTGGCCATTGCTCGAGTTTCGGGACCCCTCCCGGTCCGGGCGTCTCATCTCCCTCCTCCCGGTCCCCACCCGATGCGGGCGCCCAGGAATAAAGGGTTCCTGGCCTCCAAGGCTGCTGCGGATGGGGGTGCCTGAAATGAGAGTTGGGGGGTGCAATTACCCACTTTTGGTCGCAGCCCCGCCCCCAGCTGCAGCGCCCAGGGAAGGGAACGGCTCCAAGTCCCCTTTTCCAGGAGTCCCTTAGAGGCCTGGATTCTCTCTCCTGGTCCCCAACCAGCCAAGGGGGTAAAAGTGTCTGAGGGGGGCTCAGGAGCCCCCATTTGTCTGCCCAAGACTGAAGCCCCACCCTCTCCTACTTAAATCTCCAGTTCAGACTCCAGACTGTCAAAAAACAAGATTGGGGGATGGGAGCCTATAGGGGCCCAGGGCGCCCCTGCTCCATCTGAATTCTGGATGGAGAAGACAGACAAGGAGAGACGCTGCCATTTACTTCGGGAAACCAGGCCTTTTGTGCCTCAGTTTCTTCCTCTGCACAGTGGGCACCACCCAGTCTAGGAGCTTCTGTGGGAAGACGCAGGGCAGCAGAAGTCTCTACAATCCAAGCCCTTAGCACAGCACTGGAGGATATCCTGGAGCAGAGGTGACCCCCAGCCCTGCTTGTCCCCTCTGAAACATGGAGCCATAGTCCCACCTGCCAGGGGACCCAGAGGGTTAAGTGGAGGTGGCAGTCCTTGGCTGGAATTGAGTTTTTAGGATACTCACCACTACTCCCCCATGGCTCCTGTCTGCAGATGCTCT
|
GAGCTGCAAAGATGACAGCCCCTCCCAGCTCTGGGGTCCCGGCTGACTAGGCACTCCCTCCAGGCCTCCACAAACAATGGGCTAAGGCGCTGGGGACAGAGATGCACGCACTCCAGGCCAGGCAGGGGAGCAGCTGGGAACAGCCCACTGAGCCGGAGTTGGTGGGGGCTTGGCTTGGTTTGGAGGGCCTCCTAGGGCTCCCCAAAGCAGATCCCTAGGTTGGGCTTTTGAACAGCTCCCTTTTCACTCCCTGCCTCCCCTCCTTTCCCGCAGAGCTGGGGCCTTTAAAAGTTTTTTCTCTCCTCTTTTCCCAATCTGGAGCCACTGCCGTTATTAAAAAGGAACACCATGTGTTTTAAAAGGGAAAAGTGTGAGATTCTCTGCAAGCAGGGCGGAAGGGTGGCCTCCATCCCAGGGTCCCCACGGGGGTCCCCATCTCCCGTCCCGCTGGTACCTGCAGACACTTTACGACCCACCCGCCTGCTGGTCAGGTGCTAAGACACACCGTAAGTAGAAACATATTGCCGAGGTGTGAGAATCTTTTATTTAATTTCTTCCCCCCTTAAAGGAAAAAACACACTTACAGTGCCCCCCCACCCCCTACACCTTCGCCTGCTGCTCTACTGGCTGAAAACAAAGCTTGGCGCTCACAGTGGCACTCACAGGCGCTGCCCACCGCCTGGCAGAGCCGTCAGGGGCCCTGGGAGGGCCCGAGGTAGCCCCTCACCTGAAAGCCAGGGGAGAGCCAGGCTTTCAGCAAGTGCCCCTAGAAGATGCCCGGACCCTGCCCCTTCCCGGAGGAGCCCTACAGGCAGCCCGCAAACAGCCCAGCACAGGGTGGATGAGCCTGGGAGCAGTGTGTGCCCGGCGACCCCCGGGGTGGCCCGTGCGCCTGGATGGGGTGCGTGGAGTGACTGAACATCTGGGGCGAGTGGTGCCTGCCTCTGTGCCCCTGGGTCGCCTCCCCTGTGGGATGTGTGTGACCGTGAATGTGTGTGTCGGGGATGGAATGTGTGTGCGTCCGCGATGGTGCGCGAATGTGCACCTGGGATGCAGTGTGCGCGAGTTTGAGGGCGAGGGTGACGGGCCACAAGCCAGTGTGATTCTTTGTGTGTCTCTGGGTGTGTCCCAGAGCGGGTCTGCATACGGAGACGTATCCTTGCGGGGGTGTTCCTTGGATGGGGGGCCCCAGAGTGCCTGAGGCCAGAAGTCCCTCCAGGGCAGGGGTCTTGGCCCGTAGGGCAGCGGGTTCCCAGTGGGCCCCCTCAAAGTTTGGGCCCGCTGGTGCCCGGACTCACTGGCTCCCGCTCCCTCTCCCTCTCACCCACTCGCTCACAAAGATTCCTCTCGCTGGAGGCTCTCCGCCCGACGCAGCCTGGCTGAAAACGGTTCTAAGCGCCGCCGGTGGCGGGGACTCCGCGGACCCCCGTGCGCCGGGTCCCGCAGGGGGAGGGCGGTGGCGCCGGCCCGTGGAGACACAAGTCCCCCGGGACCCCGGGCTGCGCGCCAGGCGGCCAGAGCGGCCCCCCTGCAGCCCCGCCCTCCCCGTGGGGCTCATCCCTCCGCCTGGGGGGGCCCGCTGGGGGCCCGCACCCAGCGCGCCAACCGCGTGCGCCCCCGCCTGGGAGCGGTGCCCTGCAGTCCCAGGGGCCCAGAGTCCACCGAAGCAGACGCGTGCGCCCGCCACGTCCTGGCATGCAGAGGGTCTCAGGCCGCGATCCCCCCAGCCCCCGGGGGCCTGGCCTGGCGCCCTCGGCCCAGCTGCCCAGGTAACAGGGCCTCGGGCGCGGAAGCAGGACTCTCTGGACAGTGGACTGCGGCGCCGTGTGCCCCGCAGGTGAGGGCGCCCCGAGGGCTGCGCCGGGGGCGCCTTCCTTTGTTCCCCGGCCGTCCAGGTGGCGCCCGCGCCCCCTCCCCCCGCGGCTGCCCCCGGGGCGCCCGCCCTCTGCTCTGGCAGGGGGGAAGGAGTGGGGCGCCGGGTACTCACGGGCTCCTGATCCGGCTCGCGGCGCCCCGAGGACGCAGAGCAGCAGCAGCAGGGGCAGCAACGGCGGCGGGGCCCCGGCGGCCGGCGGGCATGGGGCCGGCGCTGCCGGGGGCGCGCGGCGGGCTGCGGCTCGGCGGCGGTGGCGCAGGGCGCGGGACGCAGGCCGGGCGCGGGAGGGCGCGGGCCAGGCCGCCCGCACGTCGCTGGGCGCGGACGCGGAGGCCGGAGCAAGTCTGAGCAGCCGAATTGACAAGGCGCTAATGCGCCGCTGGCCCCGCCCGGCCCCGCCCCCGGCCCGGCCCGGCCCCGGGGGGGCGGCGGGCCCCGCACCGGCCTCCCCGCCGCCCGCCCGCCCGCGGGCACCGCGCGCCCCGCCCGTCCCGCCTCCGCCCCACCGAGAACCGCGCGCGCCCTATCCCGCGGCCCAAAGCCCCCTAACTCAACCCCTACCGGCCCAGGACCTCCCTCTCCAACCCTGCCAGCTCCAGGCTTCCCACCCCCAGTCTGGGACCCGGCACCCCCAATCCCGTTTCCATAACCCTGCCCACTTCCCTGCACCCTCCTCTCAGCCCAGTGCCTCTTCAGTGGCCCCTTTGGTCCCCAACCCTGCCCCACTCCTCCATTCCCCCTTCCACGGCCCAATCTTCTGTCTCGGCCCCCACCCCAGCTCTGGCCCCGCCCCCCCCACCGAGCGGTCCTTGAGTCCCGCCTACCCCCATCTCCAGCCCCTCAGCCTTCCCAGGGGCCTAAAAGTCACCCCCAGCCCCACGCCCTCGGCGCGCGGGTTCCAGCCCTCCCACCTCATCCTGCCTCTTTTCGATTCTCCGCGAGTAGCCTCGGCCCCAGGCTTTGCTGGAAGAAAGGAGAAAAAGCAGGAAGGCACGGAGTCCCTCGCCTTCGCCCTGGCTGCGCTGTCCCCTTCGCGCGCGGGATGGGTTTGAGGTTGCTCTGGGCGCCCCGGGGGCCTCGGGAGGGAGCTCCTGCGTGGGCAGACGGGGAGATGTAGTCCCCTGTGGGAGCCGGGACCCAGGCCTGCGCGGGAACTGGGTCCCGCACCGCAGTAAGAGGGATTCCCAGGAGGAGAGCGGTAAGAAGCTCTTTCCCCGGGACCTATTCACACCCCGCCACGGAAAAATCCACTCAGCGGCCCGCGGGTGGGGTGCGCCACGCGGTGAGTAATCGCTTCGGCGGCCACCGCCCGCCGACTCCAGGTAACGCCGGCTGCCCGGAGCGACGCATAGTTTGTCTTCCTTCTTTTGCGCAAAGAGCCTTCTCCGTGTTATTATTTTTGGCCATTGCTCGAGTTTCGGGACCCCTCCCGGTCCGGGCGTCTCATCTCCCTCCTCCCGGTCCCCACCCGATGCGGGCGCCCAGGAATAAAGGGTTCCTGGCCTCCAAGGCTGCTGCGGATGGGGGTGCCTGAAATGAGAGTTGGGGGGTGCAATTACCCACTTTTGGTCGCAGCCCCGCCCCCAGCTGCAGCGCCCAGGGAAGGGAACGGCTCCAAGTCCCCTTTTCCAGGAGTCCCTTAGAGGCCTGGATTCTCTCTCCTGGTCCCCAACCAGCCAAGGGGGTAAAAGTGTCTGAGGGGGGCTCAGGAGCCCCCATTTGTCTGCCCAAGACTGAAGCCCCACCCTCTCCTACTTAAATCTCCAGTTCAGACTCCAGACTGTCAAAAAACAAGATTGGGGGATGGGAGCCTATAGGGGCCCAGGGCGCCCCTGCTCCATCTGAATTCTGGATGGAGAAGACAGACAAGGAGAGACGCTGCCATTTACTTCGGGAAACCAGGCCTTTTGTGCCTCAGTTTCTTCCTCTGCACAGTGGGCACCACCCAGTCTAGGAGCTTCTGTGGGAAGACGCAGGGCAGCAGAAGTCTCTACAATCCAAGCCCTTAGCACAGCACTGGAGGATATCCTGGAGCAGAGGTGACCCCCAGCCCTGCTTGTCCCCTCTGAAACATGGAGCCATAGTCCCACCTGCCAGGGGACCCAGAGGGTTAAGTGGAGGTGGCAGTCCTTGGCTGGAATTGAGTTTTTAGGATACTCACCACTACTCCCCCATGGCTCCTGTCTGCAGATGCTCTNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 301,499 |
A genetic variant at chromosome 19, position 18786034, affecting gene COMP (cartilage oligomeric matrix protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Multiple_epiphyseal_dysplasia', 'Multiple_epiphyseal_dysplasia_type_1', 'Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome']
|
CCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTT
|
CCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTA
|
pathogenic
| 301,540 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 18786034, gene COMP (cartilage oligomeric matrix protein). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Multiple_epiphyseal_dysplasia_type_1', 'Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome']
|
CCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTT
|
CCTCCCATCTTGGCTTTCCAAAGTGATGGGGTTACAGGTGTGAGCCACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTNNN
|
pathogenic
| 301,541 |
Variant in gene COMP (cartilage oligomeric matrix protein), located at chromosome 19 position 18786080: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome']
|
ACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATC
|
ACCACGCCTGGACCAGCATAGGCTCATTCTAACTGCCCTGTATCTTTCCTATCGTACAGATGAGGGGACCAGGGTCACACAGCCCCTGCCTGGCCAGGGCACTCCCACCTGGGCCTGTGTGTCCCCAGCCCAGCCCACCACAGAGGGTGGAGTCCCCACCTGATGTAGCCCACTTGGGGCCGGTGCTGCAGGAACCAACGATAGGACTTCTTGTCCTTCCAACCCACGTTTCGCGGGTCCTTCCACAGCAGCCGCACCTGGGACTCTGTGTCTCCTGTATGCCACAGAGCGTTCCGCAGCTGTTCCCCGGGGCCTGTGGAAGACTTCACAGCCTGCCAATACCCAGGAAAGGTGGTCAGAGACCTCGTGGGCCACCGGAGCCCCCCTAGACACCTTCCTGGAGAGACAGTTGGGAGCAGCAGGTGGTGGGCGGCCAGGGGGATCCGGATGAGAGACCCACAAGGAAGCCTTCTTCAGGGGCCAAATGGCAGCTTGGGGATAGGTCACAGGGGGCAGCAGTGGTCTGCAGGTTCATGAGAGGATTTGGGAGTCCGTGGACAGATTCAGGGTCTGGGAGGATGGGGGGCTCTGCAGAAGGACTTGGAAACTAAGGAAAAGTTTAGGGCTGTGTGAGAGGGTTTAGGGTCCATAGGAAGACTGGGGGGCCCTGAGAATGTTTGAGAATTTGTGCAAGGAACTGGGAGGATTTGGGGACTGCGGGAGCCCAGAGGAGGGCTGGGACAGCTTTGAGGTCCATAGTATGAGGCTAGGGGGCTGGGGGGCTCTAAGGGCTGTAAAGGGTTTTACGGAGGGTCATGGGAGGGCATGAGGACCGCAGAGGTCAGGCACGGACGGCCCTGGCACCTTGAGTTGGATGCCAGGCTCGGCCACAGCACGGAAGGGGTTCGCCTGCCAATACGTTTGCTCCATCTGCTTCCACATGACCACGTAGAAGCTGGAGCTGTCCTGGTAGCCAAAGATGAAGCCCGCATAGTCGTCATCCGTGACCGTGTTCACATGGAACGTGCCCTCGAAGTCCACGCCATTGAAGGCAGTGTAACCTAGGGATGGAAAGAGAGCAGTGGCCTTTCCGAACGCCAGCCCCAGCCCCCGGAACCTGGCACCCAGAACCCAAACCTGCCCCCTGGGTCCCGATCTGCCTGCAGACCTGCACCATTCCCACTCGCAGAGCCCGGACTCAGCCACGCCCCCCATCTACCATTGGCCACGCCCCTCCAGAGTCCACCTCCACTTGGCCCCGCCCTTCCCGAGCCCGCCCCTCCTCTGGCCCCGCGCCTTCTCCTCCCGGGCCCGCCCATATAACCCCGCCCCTCTGTCCCCGCCCTTCCTGAGCCCGGGCCAGCCCCCTTCTGGCCCCGCCCATTCTCAGCCCGGGCCTGCCCCTTCTCTGGCCCCTCTCCCTGAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCNNN
|
pathogenic
| 301,542 |
Variant at chromosome position 18787503, chromosome 19, gene COMP (cartilage oligomeric matrix protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Multiple_epiphyseal_dysplasia_type_1', 'Pseudoachondroplastic_spondyloepiphyseal_dysplasia_syndrome']
|
GAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAG
|
GAGCCCGCTCCGTGGCAGGATAGCGCTGCTCCCCGCTTCTCACCCACAGCCAGGCCTGGGTCGCTGTTCATTGTCTGCACGATCTCCCTTCCCTGATGGGGTCAAAGAAAGGAGGGCCTCAGGCTGGCCGTGACAGCCCTAGGCACCCTGTCCTCAGCATAGGCCTCACTGTGGGGGTTCTAGGGTCCCATCACCCCCCACGTGGACCCCGCTCCCACCTGGTTGAGCACCACCCAGTTGGGGTCAATCTGCGCGTCACCCTCCGGGTCCAGCACGACTGTCTGGAAGGCCCTGAAGTCGGTGAGCGTGACTTCAGCGTTCTCCGGACACACGTCGATCTTGTCTACCACCTTGTCTGCATCAAAGTCGTCCTGGCACACGTCGCCCACGCCGTCCCCTGAGAGGTGGGAGACCCCTCGGTGGGCTAAAGTCAGGGCCCGCCCACCGTAGACCCCGCGCCAGGAGCCCCCACTGGCCCCGCCCCCACCGCAGGCCCCGCCCCCGCCGTACTGTCCGCGTCCTCCTGGCCGGGGTTAGGCACCAGGCGGCAGTTGTCCCGACTGTCAGGGACTCCGTCATTGTCGTCGTCGTCGTCGCAGGCATCACCCTGGCCATCGTGGTCTGAGTCCTCCTGGGCACTGTTAGGCACCGTGGGACAGTTGTCCCGAGAGTCCTGATGTCCGTCTCCATCCCTAGAGTGGATAGGTGGGATCCAGAGACAATGAGCTCTCCAGAGCGTTTTGTCAAAGGCTACCCGGACGCCCACCCCAGGTGGCCTCCTTACTGGTCTTGATCGCTGTCACAAGCATCTCCCACAAAGTCGTGGTCCACATCCGCCTGCGGAGGGCAGCATGCGGGGGTCCATAATCAGACAGAGGAAATCAGAAAGCCTCCCACCCAACCCAGCCGCACAGCCAAGGTCCTCCTGACCCCAAGGAAACCCCCACCGCAGGCTGCTCGGACCGAGAGGTCATTTCTCTGGCAGTGTAAAATGCTCTAAGCTGGGCTGTGGGCTGGGTAATCCAACTTGCAGTTCACCCAGAGGGCTTACCCAGCTGGAGTCTGGCCTGCCCTCACCTGATCCGGGTTGCTCTTCTGGGGACAGTTGTCACAGGCATCCCCTATACCATCGCCATCACTGTCCTTCTGGTCTGAGTTGGGTACCCTAGGGCAGTTGTCGGCCTGGTTGCGGATCCCTGCAGAAATCCACGGGACCAGAGCCCCAAGATTGGGACCAGGCCAGAATGACTTCATTAGGATGAGGCCAGCCTGAGGCTGGCCTGGAACAGAGTCCCAACTTCATGGAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCATTGTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACTTCCACCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCACGCCCAGCAAATTTTTGTATTTTTAGTACAGACGGAGTTTCACCATGTTGGTCAGTCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCTTCCCAAAGTTCTGGAATTATAGGCATGAGCCACCCCGTCCGGCCCACAGGAACTTTAAGAATGAATGGTCCCATCCAAGGGAAGGCTAGTGAGGGGGACGGGCTCTCACTCCCAGGGTGGCTCAGCTGGGTGCCCGTGTGTGCCACCCTGAGCCCCTATGTCCCCATCTGTAAAGTTGTCACCTCCCAGGTCCTAAACCCCAGGCTCGAATCTCTTGTCCTCTTAATTCCTGCCTGCGGCATTGACACAGGGACCACCTTCCCTTCCAAATATCCCTGCGTTTTTCCTGGCCTTGCAGCCCAGCTTGCATTTTTCTGGCGCCCCACCATGGTCTTTGGTCCAGGGCGCCCTAGTCCAGCTTACCCCATCCGGCTTCCAAAACCAGCCAAGCCCCGCCCCGGAGCCGAATCCCGCCCTTCGGTGCCCGCCGCCTCTCCTCGCCCCCCAACCCCCATCGAGCTCACGGTCGCCGTCGATGTCGTCGCACGCATCGCCCCGGCCGTCCTGGTCTGTGTCCTTTTGGTCGTCGTTCTTCTGGGACCGGCAGTTGTCGCACGCATCGCCCCACTTGTCCTCGTCCGTGTTGCGCTGGTCTGGGTTCCGCACCAGCGGGCAGTTGTCCTGGATGACAGGGTGGGTTAAGGGTGAGATCAGGTCGAGAAGGCAAAGGTCACACTCCTCAGATTCCCAAATCTCCGAGGACGCGTCTCCTCCTCAAGGAACCTTTCGCCCCTCCTAGACCACGGAGGCCACGCCCCTCATCCAAGCCACGCCCCATCCCACTTCCCTAGGCCCCGCTCACAGCTCTGTCTTTTCTTTTTTCTTTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCCGCTAATTTTTGTATTTTTAGTAGAGGAGGGGTTTCACCATGATGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAACCACCGTGCCGAGCCGTAGATCTACCTTTTCATTGGGGACCCCGTCCCCGTCGGCATCCGGATCGCAGGCGTCTCCGATGCCATCGCGGTCCACATCCTCCTGCCCTGAGTTGGGCACAGTCACGCAGTTGTCCTGGGGGCGGGCACAGAAGGTGTGAGGGGCGCGGTCATGAAGTCCCGCCCTCCCTCCTGCCCAAGCCCGCCCCGCTCCGCCCCCACCCACCTTACGGCACTGGCGCTCCGGGCAGCGCAGCTTCTCGTCCGGGAAGCCGTCTAGGTCAGTGTCGCGACCACAGAGGATCCCGTTGCCGGCCCAGCCAACGGCACACTGTGGGAGAGTGTAAGTGGGTGCCCTGGAGTGGCCGCCACCCAACCCCGCCTCAAGCCCAGCCCGCCCGCACTCACCACGCACGACCGCGAGCCATCGCGCTCTAGGACGCAGTCTGCATGCTCGTGGCACTCGCTGGGCGAGCCGTCGGGGCAGAAGCGCTGTGCGCGCCGCTGGCAGCCGGACGCCTGGTCGCCCACGAAGCCGGGCTGGCACGGGCCGCACTGGAAGGAGCCCTGCGCCGGAGCCGCCGGAGGTCAGCGCAGGCCGCCCGCCGCTCGCCCCACCTCCCGCGATCCTTTCTTCCTCCCCAGCGGGCCTTACCCGGGTGTTGATGCACACGGAGTTGGGGACGCAGTTATGTTGCCCGGTCTCACACTCGTTGATGTCCGTGCAAACCTAGGGGAGGGGAACTCAGAGGTCACCACCCCACGCAGACACCTCCGGACCTCCCACCTCCTCCACACTTCCTCCGCATCCTGCCTCTCCCCTCCATCCTGCCCCAAACCGATCAGCCCTGGCGCAGCGGACCCCTCCTCTCCCCACCCCTCCCGCTGGAAGGAGGCTGGAAGAGGAGTTTACTGGTAAACAAAATGGACGCCCCCTTCCCTTCTGCTCCAAAAATGGGGCCCCCACACCTCTCACCTGCTTGTTGGCCTTGGCGAAAGCCAGCCCCACGCCCTGGTGGGTGGGGCCGCTGTACCCCGGCGGGCAAGCCTCGCAGCGGAACCCCGGGCTGGTGTTGATACAGCGGACTCGGGGGAAGCAGGGGTGGGCGTTGCACTGGGGGAGGAGGGGCCACAGAGGGTCAGAGGGCTTCGAGCTGGGCCCTGGGGGCCGCACCTCGTAGTGTCTCGGATGTGGAAAGTTCAAGGGCCATATGCCAGTGCTTGGAGCTCTGAGATGGAAGCAATTGTCGCAGGGGTCAGGCACGACTTTGCCTTGATGACGGCAAGGGCGCAACCGGGAGAGGAGAGGAGAGCTGTTCCCTCATGGGCGAGGGGAGGAAGGATGAGGGCGGGCATCCCCAGCAGAGNNN
|
pathogenic
| 301,555 |
Mutation found at chromosome 19 position 18868665, gene GDF1: benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Congenital_heart_defects,_multiple_types,_6', 'Right_atrial_isomerism']
|
TAAAACTGAAGCACCACTGTGTGAGCAACAGGAAGGGAGAGCGCACGAGGGAGAGGAGCCGAGGCCGAGCGCCCCCTGCTGGCCCGCGGCGGCGAGGAGCAGAGGGAGCGGAGGAGGGGCCGGCCCGCGGGAGCCGCGGCCACCAGGAGGCCCCGCTCCGTCCCATCGGGGCTGCGGCCAGGGCGGAGGGAGGAAGACCCTCATCTCAGAGTAGCCCTTTCCTCTGTTCTTTTATTTCTTTTTCTCTTTGATTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAAGAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGACAAGCGCCCCCGGGGCCGCCGCCCAACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCT
|
TAAAACTGAAGCACCACTGTGTGAGCAACAGGAAGGGAGAGCGCACGAGGGAGAGGAGCCGAGGCCGAGCGCCCCCTGCTGGCCCGCGGCGGCGAGGAGCAGAGGGAGCGGAGGAGGGGCCGGCCCGCGGGAGCCGCGGCCACCAGGAGGCCCCGCTCCGTCCCATCGGGGCTGCGGCCAGGGCGGAGGGAGGAAGACCCTCATCTCAGAGTAGCCCTTTCCTCTGTTCTTTTATTTCTTTTTCTCTTTGATTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGACAAGCGCCCCCGGGGCCGCCGCCCAACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCTNNNN
|
pathogenic
| 301,602 |
Variant at chromosome 19, position 18868806, gene GDF1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Congenital_heart_defects,_multiple_types,_6', 'Right_atrial_isomerism']
|
ACCAGGAGGCCCCGCTCCGTCCCATCGGGGCTGCGGCCAGGGCGGAGGGAGGAAGACCCTCATCTCAGAGTAGCCCTTTCCTCTGTTCTTTTATTTCTTTTTCTCTTTGATTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAAGAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGACAAGCGCCCCCGGGGCCGCCGCCCAACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCTGGCTCCTTTTACCCGGCCAGGCCCGGGCCTCGCCTTGTGGCTTCCTCCTCGCCTTCACCCTGCCCCTCCTTGCCTTCACCCTGCCCCTCCTTCAACCTGCCCCGTAGGCACGTATGTCCCCCCTGGCACCCTGGCACTTCC
|
ACCAGGAGGCCCCGCTCCGTCCCATCGGGGCTGCGGCCAGGGCGGAGGGAGGAAGACCCTCATCTCAGAGTAGCCCTTTCCTCTGTTCTTTTATTTCTTTTTCTCTTTGATTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAAGAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGACAAGCGCCCCCGGGGCCGCCGCCCAACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCTGGCTCCTTTTACCCGGCCAGGCCCGGGCCTCGCCTTGTGGCTTCCTCCTCGCCTTCACCCTGCCCCTCCTTGCCTTCACCCTGCCCCTCCTTCAACCTGCCCCGTAGGCACGTATGTCCCCCCTGGCACCCTGGCACTTC
|
pathogenic
| 301,603 |
Chromosome 19, position 18868914, gene GDF1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Right_atrial_isomerism']
|
GATTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAAGAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGACAAGCGCCCCCGGGGCCGCCGCCCAACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCTGGCTCCTTTTACCCGGCCAGGCCCGGGCCTCGCCTTGTGGCTTCCTCCTCGCCTTCACCCTGCCCCTCCTTGCCTTCACCCTGCCCCTCCTTCAACCTGCCCCGTAGGCACGTATGTCCCCCCTGGCACCCTGGCACTTCCTCCTTGCTTCCCCCTCTCCAATTAAACCTTCCTCTTCCCCTCCTCCCTGCCTCTCCAGGCCGCTGGAGGGCAAAACCCACGTACCGGCCTGGGCCTGACAACTCCACC
|
GATTGAAAGGGGACTACGTCTTAGCAGGAAAAAAAACTTCGCATTTCTGTGCCCGAGCAGGCTCCTTGCAAAGACAGCAGCGTGCGGGGCAGAGCCCCGGGAGGGCGCGTCTGTCCACGCCTACCGGACGCGCCGAGGTCGCGCTGCCTGTGTTCTCCGAGGGCCTTCATTTAAAGAAAATAAGGGTGTTTTGGGTTTTTCTCTTTGTTTTTTTCAAGATTCTTTTAAAGGAGTACTGAAGAATACTTTCCTAAGTTTGTCTGTAAAATCTTAGCGGTGGACCTGGGAGATTTGAGAAGCTTCCAGAAACAGTTTAAACAAGCCAGCGCTACTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAAGAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCTGGCTCCTTTTACCCGGCCAGGCCCGGGCCTCGCCTTGTGGCTTCCTCCTCGCCTTCACCCTGCCCCTCCTTGCCTTCACCCTGCCCCTCCTTCAACCTGCCCCGTAGGCACGTATGTCCCCCCTGGCACCCTGGCACTTCCTCCTTGCTTCCCCCTCTCCAATTAAACCTTCCTCTTCCCCTCCTCCCTGCCTCTCCAGGCCGCTGGAGGGCAAAACCCACGTACCGGCCTGGGCCTGACAACTCCACCNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 301,604 |
Is chromosome 19, position 18869245, gene GDF1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
CTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAAGAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGACAAGCGCCCCCGGGGCCGCCGCCCAACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCTGGCTCCTTTTACCCGGCCAGGCCCGGGCCTCGCCTTGTGGCTTCCTCCTCGCCTTCACCCTGCCCCTCCTTGCCTTCACCCTGCCCCTCCTTCAACCTGCCCCGTAGGCACGTATGTCCCCCCTGGCACCCTGGCACTTCCTCCTTGCTTCCCCCTCTCCAATTAAACCTTCCTCTTCCCCTCCTCCCTGCCTCTCCAGGCCGCTGGAGGGCAAAACCCACGTACCGGCCTGGGCCTGACAACTCCACCGCCTCCACAGTGGGACCCTGCACATCCTCCTCTCCTCTGCCACCCACCCCACGAAGGCTAGTCCTTGACTCCAGTGGCCCTGGCTGGCATCTGCTGTCTCCACCTACTTCCCTTCCATGTTCTTTTATTTTCCTTTTTTTTTTTTGGTCTTACTCTGTGGTCCAGGCTAGAGCTGTGGCACAACCTCCAAGGCTCAATGGATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGATTACAGGGGCACGCCACCACTCCCAGCAATTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCTAGTCTGGAGTGTGGTGGCACAAT
|
CTGGAGAAGAGGAGCAACACCTGTGCCGCGGCCGGAGGAGTTTTGTTGTTGGTTTTAGCTTCCAGTGGCTTCTTTCTGCGGGGCATCAGGCTGCTGGGGTAGCCGCCCGCCGAGCCTGGAAGCTGCTCGTTCTCCGCTGGACTCAGAAGCCAAGCTGCTTCCCGCCTAGACTCGGCGCAGGGCCCCGCACCGGTGAGGAAGGTGCTTTTGGCCCCATTGCGAGGGGCCTTGGCCAGGACTGGCCCTGTGGCCAGGAGGCGAGAAGGTGGCTGTTCCCGGATTGACGGCTTTTTCCCGGGGGCCTTTGGAAGATTTGGTGGAAGGACAAGAGGGCCTGTCCCTGTCCCCGTCCCCAGGAGGTACCGACAGTCCCTGTGCTGGTTAGACACGGAGCGCTGCACACCGAAAGCCCAAATTGGGAGCTCTGCCTGCCGGCAACTTTGCTGATGGGGTGATTGCTGCTTCTGGGGGGTAAGGAAACAAGTTACAGAAATTACCGCGTTCTGTGTGAAGGGACTGAGGGTGTGGTGTCATTGGCAGAGGGTCATTTTAGGAGAGCTGCCCCAGCCCCTCGAACGCCTGGCTTGGGGTGTCATTCTGCCTGGCGGCCAGGCCTCCAGCTTCCCCTGCCCCGGGCCTGGGGCTGTCACTGGCCCTGATCCGAACACCTCCAGATTCCGGCTTCTACATGGGACAGACGGGGACGCACAGGCCACCTTCCTTCTGGCAGGGACTCTTATTTATTCCCATTGCTCTAGGGCTTTCGGTTTCCCCTTCTTCCGGTAGGCCGCGTAGAGGCATGCACCGGGTAGGTTTCCGCGGTGACCCCGCGGCGGCCTGAGGGACGCTCCCTGCCCCATCCCGGCTGTTGGGCTGGGCCGCTTTGCCTCTGCTTCGCCCTGTGCTGTGTTCTCCAGCTTTGTAGCAGCAGCCTTGACAAACCCAGGCGCACTGTACCAAGGCAATGTAACTTTTGATTTTCGGTCAATTTAAGTTCTTTTGTCACCAAATATTAATAAACAGTTTTGACTTCACACCAAGGTTGGATAAACTGCAGGGGGTGGAGGGTGCTGGGGTTTTGCCTTGGCTGAGTGACGGGTTGGGGTGTGAAGGAGGCCAGAGGGAGACAGGCAAAGCCCAGAAGGGACAGGTCTGCCTTGCAGGACTGAAGGGCGACCCCTGCCCCTGGGCCCTTCCCGTAGGCAGCACCTGGGCCTGTCCGGGCGGCTCCCCGGAGTGGCGCGTTAGGCCTCTGGCAGGTGGCCTGGAGGTGGAAAGGCCTATCCGATCACCAAGACTGAGGGGCGCCCTCCCCACCACCCAGGCAAGGAGTCCAAGGAGACCAGCGGAGCAGACCACGCGGCATTTATTGTTGGGCCCGCGTCCCTGCCCGCCCCGGGTTAGCGGCAGCCGCACTCGTCCACCACCATGTCCTCATACTGCCGCAGCACCACGTTGTCGCTGTTGTCAAAGAAGAGCACGGAGATGGGCGACAGGCGCGCGGGCACGCAGCAGGGCAGGTCGGCGGCTCCCGGGGCGGCCGCGTGCATGAGCGCGCGCAGCACAGCGTGGTTGAGCGCCGGCGGCCCCCCGGACCCCGACAGCGCGACGGGCAGCGCGCACTGACCCTGGCAGTAGTTGGCCAGGAAGCCGCGCGGCGCGATGACCCAGCGGTGCCAGCCCACCTCGCGGAAGCTCACGTACAGCCGCCGCGCGCGACAAGCGCCCCCGGGGCCGCCGCCCAACACGGGTTCGGCGTCGCGCCGCGGCCGGGCCAGGGGGTGGCACAGGCGCGGGTCGAGGGTCACCAGCAGCAGCGAGGCCTCGGCCAGGCGCGCGCAGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGGTCCGCGCCCGCGCCCTGGCCCGCTTGCGCCACGCTCAGCTCCCAGCCGCCCTCCGGGGCTGCCGCCGCCGCCGCCGCCGCGAAACGCAGCTCCAGGCGGGCCCGGCTCGGGCGCTCAGCGGGTTCCACAGCCGACAGGTCGAAGACGACTGTCCACTCAGGGCAATGCCCCGCGGCCGAGGCAGGCTCCGAGGCCCGGGTGGGCGCACCTGGGGAGGTAGGAACAGGAACTCGGCTCGCGCTGCGTCCCCGGCCTGCCCATGGGGTCTCGGTTAGGGACAGGGAGGAAGGTGAACGCTGGGGCTCGGGGCGCACCGTCTGTGGGAAGGGTGTGAAGCGGCGGGGTGGGCTGATGGAGTGGGGGCAGGGCATGAGTTCCAAGGAAGGCGCCCTGCGGGGTGCGGCGGGGGGGGTGGGCTGCCCTCGGCGGGGGGCATAGGAGGAGGGGTGGCCGAAGTGGGAGACATGAGCCAGAACCTGGGCCCCTGGGGAAGCCATGCTAGGGTGTGGGGATGGCATCTGCAGGAAGGCATTAGTGTCAAGAGGTGGGGGTGGGCATGGGGTGGGGACAGGGCTTCAGCATCAAGCAGAAGGACTGGTCTTGGGAACCCCCTGACATGTGTCCCCGGCGTGCAGCAGATGACGAGGAAAGGGTGAGGTGCGGTGGCCGAAGTTGCTAGTAGCCTGGACAGGGCGGGTGGGGACCCTCGGAGCTGCTCGGGCATCCCCGGGCCACTCTCGAGGCTCGCCCTGCGAGGTCTGGCCTCCAGGACCAGTGTCCCCAGCGAAAGCCCCACTCACCGCGGTCCGGGATGTGGCGCACGATGTTTCCGGCGACCCCCAGCTCCTCCACGTGGCACGGTTGCAGGGTGACCCCTGGGGACGTCCGCCGCGAGCCAGACCTGGTCTCCTGGGGGTCCCGGCGTCGAAACAGGCGCCACATGACCGGGGGAACCGGCCGGAGCCTGGGGGCACCCTGGGGCTCATCGCGCAGTCCTAGAGCCTGGAGCAGGGCGGCGGCTGGGCCTGGGGGCACGGGGGCGCGGGTCAGGGGCAGCGAGGGCAGCAGCAGGGCCAGGAGGAGGAGGAGGTGGTGGCCGCAGGGACCTTGCTGCGGCGGTGGCATCTTCCTCCCAGGCGATGACCAGAGAGTGCGCAGGGTCCGCGGCGGCCCGGGACCAGTGGGCTGAGGGCGGGGCCGGTGTCCCCGGAGGGGCAGGGGTCCTGGGGGGCGTGGCCGGGAACTGGAGGCAGGATGAGGGGGCGGGGTCCCAGGGGAGGTGGCGGCGGCCCTAGAGGAGCAGAGTTGGAGGGGGTGGAGGGGCGGCCAAGGACGGGGAGCGTGGCCGGGGTATTCGGGGTGGGGCCGGGTCCACGGGGGCGGGGCCGAGGGGTTCAGAAGCGCTTGTCCTTCACCAGGCCGTTCCTCAGTGGCTTCCTGGGGGTCAGAACCGGCGCAGGTTAGCCTGGGAGCCCCACGCGGCCGCCTGGCCCTCTTTCCCGCTTCTTCTCTGGCCGTTTCACACCCCCTGGCTCCTTTTACCCGGCCAGGCCCGGGCCTCGCCTTGTGGCTTCCTCCTCGCCTTCACCCTGCCCCTCCTTGCCTTCACCCTGCCCCTCCTTCAACCTGCCCCGTAGGCACGTATGTCCCCCCTGGCACCCTGGCACTTCCTCCTTGCTTCCCCCTCTCCAATTAAACCTTCCTCTTCCCCTCCTCCCTGCCTCTCCAGGCCGCTGGAGGGCAAAACCCACGTACCGGCCTGGGCCTGACAACTCCACCGCCTCCACAGTGGGACCCTGCACATCCTCCTCTCCTCTGCCACCCACCCCACGAAGGCTAGTCCTTGACTCCAGTGGCCCTGGCTGGCATCTGCTGTCTCCACCTACTTCCCTTCCATGTTCTTTTATTTTCCTTTTTTTTTTTTGGTCTTACTCTGTGGTCCAGGCTAGAGCTGTGGCACAACCTCCAAGGCTCAATGGATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGATTACAGGGGCACGCCACCACTCCCAGCAATTTTTTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCTAGTCTGGAGTGTGGTGGCAC
|
benign
| 301,607 |
Classify the chromosome 19 variant at position 19197251 affecting gene RFXANK (regulatory factor X associated ankyrin containing protein) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['MHC_class_II_deficiency', 'MHC_class_II_deficiency_2']
|
CCGTTTTTTTTTTTTTTTTTAAATGGAGGTTTGCTTTTGTTGCCCAGGCTCCCTCCCCTCCCCTCGCCTCCCCTCCCCTCCTTTCCCCTCTCCCCACTCTCGAGACGCCTCCTGGATCCCCTCTCTTCTTGAGACAGAATCTTGCTCTGTTGTCCAGGGTGGAGTGCAGTGGCACTATCTTGACTCACTGCAACTCCCTCTCCTGGGTTAAGGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATGCACCACCACATCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGTCCCTGTAGCGGATTTCTTTGACTTCCTAAGATCTCGGTGGTGTCACCTTGGGGAGGCCCTCCTGTTACCACCTTGTCTAAGAAGGACTTATTCCTTGTGCTCCGTTCTTTTCATCCTCTTCTACCTGCTTTTAAATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCTCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCTGCCACCATGCATGGCTAATTTTGTGTTTTTAGTAGAGGTGGAATTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTAAGTTCTTTTGAACACTTATTTCAACTTGAAGTTTTTTATTATTTCTCTATGTCTGATGCACCTACTTGACCCCCGACTCCCTAGAGGGCAAAAACTATGTCTTGTTTGCTCAGAACATTGCCAGGCAGGGAGGAGAAAGATGCACCCTGGGTATTCAAGAGAGTAGAGTGAGTGAATGGTGGAGTCCCAGGCACTGCCTTTGGTAGCTCCAAGACCCCAGGGAGATACCGAAGGCAGTAGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCGACAGAGCAAGACTCCATCTCTACCAATATATATATATTTTTAATTTGCTGGGTATGGTGGCACCTGTAGTTTCAGCTGCTCAGGAGGCTGAGGTGGGAGGTTGGCTTGAGCCCAGGAGGTTGAGGCTGAAGTGAACTGTGATCACACCACCGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACCCCAATAGCTGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGATTTGAGGTCAGGAGTTTGAAATTAGCCTGGCCAACATAGCGAAACCCCGTCTCTACTTAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATGATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGGGGACAGACGGAGACTCCATCTCAAACAACAACAGCAACAAAAAAAAACAGATGGGCTTCTGTCCTGAAGCCTCAGAGACATCTACTGAGGGGAAACTGACGCCTGTTGTCTGTTTCCCAGCAGGCAGCTCCCTGAAGCACTCCACCACTCTCACCAACCGGCAGCGAGGGAACGAGGTGTCAGCTCTGCCGGCCACCCTAGACTGTGAGTGGGCCCACGGTCCCCAACAAGGAGAGGAGTAGGAGGGTGGGAGGGCCTGTGAGGAGCAATCGTGGACAGAGGGTAAACTGAGGCACAGAGAAGCAAGGGGATGAGTGAGGACTCTGCCTCTGTCCTGCCCCAGCCCTGTCCATCCACCAGCTCGCAGCACAGGGGGAGCTGGACCAGCTGAAGGAGCATTTGCGGAAAGGTGCGTGTCCACACACATGTGCTGGCATGTCTGCACCTGGCTGGTGTGTGCATATGGGTGTCCATACCCACTCATGACGTGACCTGTGAGTGTCCACGTGTATGATTGTATCTAACTGTGTGTGTGACCGTGTTCATGTATGTCCATCAACATACGCTCCCCCTCATTCCCCTGTCTAACCCCAGCCCCCCACCTCGTCCCCATTTGGCAGCACTGGGGATAGGGGGCAGGGGTGCAGCCTGGTGGTATTGCCCGCCTCCTCCTGCCAGGTGACAACCTCGTCAACAAGCCAGACGAGCGCGGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGAGAGATTGAGACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCCGGGGGCCTTAGGGTGGGCTGGGGTTTTGGCTGTGTCTGCTGGCGCCTTGTCTTTGAGATGCGGCTGCTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTCGTGGTGGGTGCCTGTAATCCCAGGTACTCTGGAGGCTGAGGTGGGAGAACTGTGTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCCAAAAAAAAAAAAAAAGATGCGGCTGCTGTGGGTACCCCAGGATTCCTGGTTATGCCCCAATCCATCCTACCACTGTCCCTTCTTCTCCCTGCAGGGTGCCGACCCCCACATCCTGGCAAAAGAGCGAGAGAGCGCCCTGTCGCTGGCCAGCACAGGCGGCTACACAGACATTGTGGGGCTGCTGCTGGAGCGTGACGTGGACATCAACATCTATGATTGGGTGAGGGACTGCCCATCCCCAGGACCTCTCAGCCTCCTGGCCTTCATTCCTGCCTCAAATGTTCACAGAGTACTTGAAAGGTGCAGGCCTGCTCTAGGTGCCGAGAACACGAGACAGCCCCATTCCCAGCCTCACAGAGCAGAGCTCCCCATGCAGGGAAGGCAGACATGGAAACAGGCAGCTGAGATGCAGTGAACTGCGCTGCGATGGCAGATGCACAGGTGGCTACAAGAGCCCCATGTGGGCAAGGGAAATCAGAGAGGTCTTCCTGGAGGAAGGTGTCTAAGCTTGAGACCCCAGAAAGTGAGATGGGCCCAGTGATGAGCAGGAGGAACCACGTTCAACTGGAGGCCAGAGAGTACAAGGCATTTTGAGAATGAGGAAGAGGTAAACCTTTGGTTTCTCCTGCCCCTACCCACGACAGAATGGAGGGACGCCACTGCTGTACGCTGTGCGCGGGAACCACGTGAAATGCGTTGAGGCCTTGCTGGGTGAGTGGGAGTCGGGAGTGGCCCTGGGGGCCCCAGCACTCCAGCGGGCCCTGCGGGAATCCTGAGGGCAGGGAGACGCCCAAGTGTTGCTTGAAGAGTTCTTGGAGCAGGTAGTCCCTGCCTGCTCTTCTCGGAGGATGGATCAGAGGGGAGGAGGTGGTAGGACCACACGGGAGTCGGGGTCTGGGTTTAGGATCTGGCCAAGAGGCTAAGCACCTCCATCCTCCATGGTTCAGAGACCCTTCAGCCACGTTCTTCAGTGGAGACCAAGATAGCAGAGGTTGGACCCTTGTCAAAGGCCACATGGGCAACGGGCAGACCCACGGCTGCATTGTGGGGAATGAGGGGTGCCATGGGATCTCCCAGGTCCCCAGACCCCATTCTGGACTCCCAGGCCCCACCCTCCAGCGCCCTCCCCTCTCCTTTGCAGCCCGAGGCGCTGACCTCACCACCGAAGCCGACTCTGGCTACACCCCGATGGACCTTGCCGTGGCCCTGGGATACCGGAAAGGTCAGCCTGAGACACACAGAGCAGGGGTGGGGTCCCTTCCATAGGCAGGGTGACCATAAAGGGG
|
CCGTTTTTTTTTTTTTTTTTAAATGGAGGTTTGCTTTTGTTGCCCAGGCTCCCTCCCCTCCCCTCGCCTCCCCTCCCCTCCTTTCCCCTCTCCCCACTCTCGAGACGCCTCCTGGATCCCCTCTCTTCTTGAGACAGAATCTTGCTCTGTTGTCCAGGGTGGAGTGCAGTGGCACTATCTTGACTCACTGCAACTCCCTCTCCTGGGTTAAGGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGCATGCACCACCACATCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGTCCCTGTAGCGGATTTCTTTGACTTCCTAAGATCTCGGTGGTGTCACCTTGGGGAGGCCCTCCTGTTACCACCTTGTCTAAGAAGGACTTATTCCTTGTGCTCCGTTCTTTTCATCCTCTTCTACCTGCTTTTAAATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCTCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCTGCCACCATGCATGGCTAATTTTGTGTTTTTAGTAGAGGTGGAATTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTAAGTTCTTTTGAACACTTATTTCAACTTGAAGTTTTTTATTATTTCTCTATGTCTGATGCACCTACTTGACCCCCGACTCCCTAGAGGGCAAAAACTATGTCTTGTTTGCTCAGAACATTGCCAGGCAGGGAGGAGAAAGATGCACCCTGGGTATTCAAGAGAGTAGAGTGAGTGAATGGTGGAGTCCCAGGCACTGCCTTTGGTAGCTCCAAGACCCCAGGGAGATACCGAAGGCAGTAGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCGACAGAGCAAGACTCCATCTCTACCAATATATATATATTTTTAATTTGCTGGGTATGGTGGCACCTGTAGTTTCAGCTGCTCAGGAGGCTGAGGTGGGAGGTTGGCTTGAGCCCAGGAGGTTGAGGCTGAAGTGAACTGTGATCACACCACCGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACCCCAATAGCTGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGATTTGAGGTCAGGAGTTTGAAATTAGCCTGGCCAACATAGCGAAACCCCGTCTCTACTTAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATGATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGGGGACAGACGGAGACTCCATCTCAAACAACAACAGCAACAAAAAAAAACAGATGGGCTTCTGTCCTGAAGCCTCAGAGACATCTACTGAGGGGAAACTGACGCCTGTTGTCTGTTTCCCAGCAGGCAGCTCCCTGAAGCACTCCACCACTCTCACCAACCGGCAGCGAGGGAACGAGGTGTCAGCTCTGCCGGCCACCCTAGACTGTGAGTGGGCCCACGGTCCCCAACAAGGAGAGGAGTAGGAGGGTGGGAGGGCCTGTGAGGAGCAATCGTGGACAGAGGGTAAACTGAGGCACAGAGAAGCAAGGGGATGAGTGAGGACTCTGCCTCTGTCCTGCCCCAGCCCTGTCCATCCACCAGCTCGCAGCACAGGGGGAGCTGGACCAGCTGAAGGAGCATTTGCGGAAAGGCGTGTCCACACACATGTGCTGGCATGTCTGCACCTGGCTGGTGTGTGCATATGGGTGTCCATACCCACTCATGACGTGACCTGTGAGTGTCCACGTGTATGATTGTATCTAACTGTGTGTGTGACCGTGTTCATGTATGTCCATCAACATACGCTCCCCCTCATTCCCCTGTCTAACCCCAGCCCCCCACCTCGTCCCCATTTGGCAGCACTGGGGATAGGGGGCAGGGGTGCAGCCTGGTGGTATTGCCCGCCTCCTCCTGCCAGGTGACAACCTCGTCAACAAGCCAGACGAGCGCGGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGAGAGATTGAGACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCCGGGGGCCTTAGGGTGGGCTGGGGTTTTGGCTGTGTCTGCTGGCGCCTTGTCTTTGAGATGCGGCTGCTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTCGTGGTGGGTGCCTGTAATCCCAGGTACTCTGGAGGCTGAGGTGGGAGAACTGTGTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCCAAAAAAAAAAAAAAAGATGCGGCTGCTGTGGGTACCCCAGGATTCCTGGTTATGCCCCAATCCATCCTACCACTGTCCCTTCTTCTCCCTGCAGGGTGCCGACCCCCACATCCTGGCAAAAGAGCGAGAGAGCGCCCTGTCGCTGGCCAGCACAGGCGGCTACACAGACATTGTGGGGCTGCTGCTGGAGCGTGACGTGGACATCAACATCTATGATTGGGTGAGGGACTGCCCATCCCCAGGACCTCTCAGCCTCCTGGCCTTCATTCCTGCCTCAAATGTTCACAGAGTACTTGAAAGGTGCAGGCCTGCTCTAGGTGCCGAGAACACGAGACAGCCCCATTCCCAGCCTCACAGAGCAGAGCTCCCCATGCAGGGAAGGCAGACATGGAAACAGGCAGCTGAGATGCAGTGAACTGCGCTGCGATGGCAGATGCACAGGTGGCTACAAGAGCCCCATGTGGGCAAGGGAAATCAGAGAGGTCTTCCTGGAGGAAGGTGTCTAAGCTTGAGACCCCAGAAAGTGAGATGGGCCCAGTGATGAGCAGGAGGAACCACGTTCAACTGGAGGCCAGAGAGTACAAGGCATTTTGAGAATGAGGAAGAGGTAAACCTTTGGTTTCTCCTGCCCCTACCCACGACAGAATGGAGGGACGCCACTGCTGTACGCTGTGCGCGGGAACCACGTGAAATGCGTTGAGGCCTTGCTGGGTGAGTGGGAGTCGGGAGTGGCCCTGGGGGCCCCAGCACTCCAGCGGGCCCTGCGGGAATCCTGAGGGCAGGGAGACGCCCAAGTGTTGCTTGAAGAGTTCTTGGAGCAGGTAGTCCCTGCCTGCTCTTCTCGGAGGATGGATCAGAGGGGAGGAGGTGGTAGGACCACACGGGAGTCGGGGTCTGGGTTTAGGATCTGGCCAAGAGGCTAAGCACCTCCATCCTCCATGGTTCAGAGACCCTTCAGCCACGTTCTTCAGTGGAGACCAAGATAGCAGAGGTTGGACCCTTGTCAAAGGCCACATGGGCAACGGGCAGACCCACGGCTGCATTGTGGGGAATGAGGGGTGCCATGGGATCTCCCAGGTCCCCAGACCCCATTCTGGACTCCCAGGCCCCACCCTCCAGCGCCCTCCCCTCTCCTTTGCAGCCCGAGGCGCTGACCTCACCACCGAAGCCGACTCTGGCTACACCCCGATGGACCTTGCCGTGGCCCTGGGATACCGGAAAGGTCAGCCTGAGACACACAGAGCAGGGGTGGGGTCCCTTCCATAGGCAGGGTGACCATAAAGGGGNN
|
pathogenic
| 301,647 |
Clinical classification of chromosome 19, position 19197495, gene RFXANK (regulatory factor X associated ankyrin containing protein): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['MHC_class_II_deficiency', 'MHC_class_II_deficiency_1', 'MHC_class_II_deficiency_2']
|
GGCATGCACCACCACATCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGTCCCTGTAGCGGATTTCTTTGACTTCCTAAGATCTCGGTGGTGTCACCTTGGGGAGGCCCTCCTGTTACCACCTTGTCTAAGAAGGACTTATTCCTTGTGCTCCGTTCTTTTCATCCTCTTCTACCTGCTTTTAAATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCTCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCTGCCACCATGCATGGCTAATTTTGTGTTTTTAGTAGAGGTGGAATTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTAAGTTCTTTTGAACACTTATTTCAACTTGAAGTTTTTTATTATTTCTCTATGTCTGATGCACCTACTTGACCCCCGACTCCCTAGAGGGCAAAAACTATGTCTTGTTTGCTCAGAACATTGCCAGGCAGGGAGGAGAAAGATGCACCCTGGGTATTCAAGAGAGTAGAGTGAGTGAATGGTGGAGTCCCAGGCACTGCCTTTGGTAGCTCCAAGACCCCAGGGAGATACCGAAGGCAGTAGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCGACAGAGCAAGACTCCATCTCTACCAATATATATATATTTTTAATTTGCTGGGTATGGTGGCACCTGTAGTTTCAGCTGCTCAGGAGGCTGAGGTGGGAGGTTGGCTTGAGCCCAGGAGGTTGAGGCTGAAGTGAACTGTGATCACACCACCGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACCCCAATAGCTGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGATTTGAGGTCAGGAGTTTGAAATTAGCCTGGCCAACATAGCGAAACCCCGTCTCTACTTAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATGATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGGGGACAGACGGAGACTCCATCTCAAACAACAACAGCAACAAAAAAAAACAGATGGGCTTCTGTCCTGAAGCCTCAGAGACATCTACTGAGGGGAAACTGACGCCTGTTGTCTGTTTCCCAGCAGGCAGCTCCCTGAAGCACTCCACCACTCTCACCAACCGGCAGCGAGGGAACGAGGTGTCAGCTCTGCCGGCCACCCTAGACTGTGAGTGGGCCCACGGTCCCCAACAAGGAGAGGAGTAGGAGGGTGGGAGGGCCTGTGAGGAGCAATCGTGGACAGAGGGTAAACTGAGGCACAGAGAAGCAAGGGGATGAGTGAGGACTCTGCCTCTGTCCTGCCCCAGCCCTGTCCATCCACCAGCTCGCAGCACAGGGGGAGCTGGACCAGCTGAAGGAGCATTTGCGGAAAGGTGCGTGTCCACACACATGTGCTGGCATGTCTGCACCTGGCTGGTGTGTGCATATGGGTGTCCATACCCACTCATGACGTGACCTGTGAGTGTCCACGTGTATGATTGTATCTAACTGTGTGTGTGACCGTGTTCATGTATGTCCATCAACATACGCTCCCCCTCATTCCCCTGTCTAACCCCAGCCCCCCACCTCGTCCCCATTTGGCAGCACTGGGGATAGGGGGCAGGGGTGCAGCCTGGTGGTATTGCCCGCCTCCTCCTGCCAGGTGACAACCTCGTCAACAAGCCAGACGAGCGCGGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGAGAGATTGAGACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCCGGGGGCCTTAGGGTGGGCTGGGGTTTTGGCTGTGTCTGCTGGCGCCTTGTCTTTGAGATGCGGCTGCTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTCGTGGTGGGTGCCTGTAATCCCAGGTACTCTGGAGGCTGAGGTGGGAGAACTGTGTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCCAAAAAAAAAAAAAAAGATGCGGCTGCTGTGGGTACCCCAGGATTCCTGGTTATGCCCCAATCCATCCTACCACTGTCCCTTCTTCTCCCTGCAGGGTGCCGACCCCCACATCCTGGCAAAAGAGCGAGAGAGCGCCCTGTCGCTGGCCAGCACAGGCGGCTACACAGACATTGTGGGGCTGCTGCTGGAGCGTGACGTGGACATCAACATCTATGATTGGGTGAGGGACTGCCCATCCCCAGGACCTCTCAGCCTCCTGGCCTTCATTCCTGCCTCAAATGTTCACAGAGTACTTGAAAGGTGCAGGCCTGCTCTAGGTGCCGAGAACACGAGACAGCCCCATTCCCAGCCTCACAGAGCAGAGCTCCCCATGCAGGGAAGGCAGACATGGAAACAGGCAGCTGAGATGCAGTGAACTGCGCTGCGATGGCAGATGCACAGGTGGCTACAAGAGCCCCATGTGGGCAAGGGAAATCAGAGAGGTCTTCCTGGAGGAAGGTGTCTAAGCTTGAGACCCCAGAAAGTGAGATGGGCCCAGTGATGAGCAGGAGGAACCACGTTCAACTGGAGGCCAGAGAGTACAAGGCATTTTGAGAATGAGGAAGAGGTAAACCTTTGGTTTCTCCTGCCCCTACCCACGACAGAATGGAGGGACGCCACTGCTGTACGCTGTGCGCGGGAACCACGTGAAATGCGTTGAGGCCTTGCTGGGTGAGTGGGAGTCGGGAGTGGCCCTGGGGGCCCCAGCACTCCAGCGGGCCCTGCGGGAATCCTGAGGGCAGGGAGACGCCCAAGTGTTGCTTGAAGAGTTCTTGGAGCAGGTAGTCCCTGCCTGCTCTTCTCGGAGGATGGATCAGAGGGGAGGAGGTGGTAGGACCACACGGGAGTCGGGGTCTGGGTTTAGGATCTGGCCAAGAGGCTAAGCACCTCCATCCTCCATGGTTCAGAGACCCTTCAGCCACGTTCTTCAGTGGAGACCAAGATAGCAGAGGTTGGACCCTTGTCAAAGGCCACATGGGCAACGGGCAGACCCACGGCTGCATTGTGGGGAATGAGGGGTGCCATGGGATCTCCCAGGTCCCCAGACCCCATTCTGGACTCCCAGGCCCCACCCTCCAGCGCCCTCCCCTCTCCTTTGCAGCCCGAGGCGCTGACCTCACCACCGAAGCCGACTCTGGCTACACCCCGATGGACCTTGCCGTGGCCCTGGGATACCGGAAAGGTCAGCCTGAGACACACAGAGCAGGGGTGGGGTCCCTTCCATAGGCAGGGTGACCATAAAGGGGTACATGGGACACCCCTTCAGTGGTCATACGCCGGCAGCGAGAGTGTGTTGACAGGTGTTGAGCACTGCTGTGTATCCCGCCTGGGAACATCCCAGTCCTGGCTCCTGGGGCTCCACATGTGCTGGGGTAGGGAGGACAATGGGTGTCAGTGGCTGTGGCCATGATGGGGGACACATAGGCATGAGAGGCCGAAAGAGGGGCCTCTCATCAAAGAGCCCCAAAGTGGCCAACAGAAGTCAGAGAG
|
GGCATGCACCACCACATCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGAGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGTCCCTGTAGCGGATTTCTTTGACTTCCTAAGATCTCGGTGGTGTCACCTTGGGGAGGCCCTCCTGTTACCACCTTGTCTAAGAAGGACTTATTCCTTGTGCTCCGTTCTTTTCATCCTCTTCTACCTGCTTTTAAATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCTCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCTGCCACCATGCATGGCTAATTTTGTGTTTTTAGTAGAGGTGGAATTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTTAAGTTCTTTTGAACACTTATTTCAACTTGAAGTTTTTTATTATTTCTCTATGTCTGATGCACCTACTTGACCCCCGACTCCCTAGAGGGCAAAAACTATGTCTTGTTTGCTCAGAACATTGCCAGGCAGGGAGGAGAAAGATGCACCCTGGGTATTCAAGAGAGTAGAGTGAGTGAATGGTGGAGTCCCAGGCACTGCCTTTGGTAGCTCCAAGACCCCAGGGAGATACCGAAGGCAGTAGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCGACAGAGCAAGACTCCATCTCTACCAATATATATATATTTTTAATTTGCTGGGTATGGTGGCACCTGTAGTTTCAGCTGCTCAGGAGGCTGAGGTGGGAGGTTGGCTTGAGCCCAGGAGGTTGAGGCTGAAGTGAACTGTGATCACACCACCGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACCCCAATAGCTGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGATTTGAGGTCAGGAGTTTGAAATTAGCCTGGCCAACATAGCGAAACCCCGTCTCTACTTAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATGATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGGGGACAGACGGAGACTCCATCTCAAACAACAACAGCAACAAAAAAAAACAGATGGGCTTCTGTCCTGAAGCCTCAGAGACATCTACTGAGGGGAAACTGACGCCTGTTGTCTGTTTCCCAGCAGGCAGCTCCCTGAAGCACTCCACCACTCTCACCAACCGGCAGCGAGGGAACGAGGTGTCAGCTCTGCCGGCCACCCTAGACTGTGAGTGGGCCCACGGTCCCCAACAAGGAGAGGAGTAGGAGGGTGGGAGGGCCTGTGAGGAGCAATCGTGGACAGAGGGTAAACTGAGGCACAGAGAAGCAAGGGGATGAGTGAGGACTCTGCCTCTGTCCTGCCCCAGCCCTGTCCATCCACCAGCTCGCAGCACAGGGGGAGCTGGACCAGCTGAAGGAGCATTTGCGGAAAGGTGCGTGTCCACACACATGTGCTGGCATGTCTGCACCTGGCTGGTGTGTGCATATGGGTGTCCATACCCACTCATGACGTGACCTGTGAGTGTCCACGTGTATGATTGTATCTAACTGTGTGTGTGACCGTGTTCATGTATGTCCATCAACATACGCTCCCCCTCATTCCCCTGTCTAACCCCAGCCCCCCACCTCGTCCCCATTTGGCAGCACTGGGGATAGGGGGCAGGGGTGCAGCCTGGTTGACAACCTCGTCAACAAGCCAGACGAGCGCGGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGAGAGATTGAGACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCCGGGGGCCTTAGGGTGGGCTGGGGTTTTGGCTGTGTCTGCTGGCGCCTTGTCTTTGAGATGCGGCTGCTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTCGTGGTGGGTGCCTGTAATCCCAGGTACTCTGGAGGCTGAGGTGGGAGAACTGTGTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCCAAAAAAAAAAAAAAAGATGCGGCTGCTGTGGGTACCCCAGGATTCCTGGTTATGCCCCAATCCATCCTACCACTGTCCCTTCTTCTCCCTGCAGGGTGCCGACCCCCACATCCTGGCAAAAGAGCGAGAGAGCGCCCTGTCGCTGGCCAGCACAGGCGGCTACACAGACATTGTGGGGCTGCTGCTGGAGCGTGACGTGGACATCAACATCTATGATTGGGTGAGGGACTGCCCATCCCCAGGACCTCTCAGCCTCCTGGCCTTCATTCCTGCCTCAAATGTTCACAGAGTACTTGAAAGGTGCAGGCCTGCTCTAGGTGCCGAGAACACGAGACAGCCCCATTCCCAGCCTCACAGAGCAGAGCTCCCCATGCAGGGAAGGCAGACATGGAAACAGGCAGCTGAGATGCAGTGAACTGCGCTGCGATGGCAGATGCACAGGTGGCTACAAGAGCCCCATGTGGGCAAGGGAAATCAGAGAGGTCTTCCTGGAGGAAGGTGTCTAAGCTTGAGACCCCAGAAAGTGAGATGGGCCCAGTGATGAGCAGGAGGAACCACGTTCAACTGGAGGCCAGAGAGTACAAGGCATTTTGAGAATGAGGAAGAGGTAAACCTTTGGTTTCTCCTGCCCCTACCCACGACAGAATGGAGGGACGCCACTGCTGTACGCTGTGCGCGGGAACCACGTGAAATGCGTTGAGGCCTTGCTGGGTGAGTGGGAGTCGGGAGTGGCCCTGGGGGCCCCAGCACTCCAGCGGGCCCTGCGGGAATCCTGAGGGCAGGGAGACGCCCAAGTGTTGCTTGAAGAGTTCTTGGAGCAGGTAGTCCCTGCCTGCTCTTCTCGGAGGATGGATCAGAGGGGAGGAGGTGGTAGGACCACACGGGAGTCGGGGTCTGGGTTTAGGATCTGGCCAAGAGGCTAAGCACCTCCATCCTCCATGGTTCAGAGACCCTTCAGCCACGTTCTTCAGTGGAGACCAAGATAGCAGAGGTTGGACCCTTGTCAAAGGCCACATGGGCAACGGGCAGACCCACGGCTGCATTGTGGGGAATGAGGGGTGCCATGGGATCTCCCAGGTCCCCAGACCCCATTCTGGACTCCCAGGCCCCACCCTCCAGCGCCCTCCCCTCTCCTTTGCAGCCCGAGGCGCTGACCTCACCACCGAAGCCGACTCTGGCTACACCCCGATGGACCTTGCCGTGGCCCTGGGATACCGGAAAGGTCAGCCTGAGACACACAGAGCAGGGGTGGGGTCCCTTCCATAGGCAGGGTGACCATAAAGGGGTACATGGGACACCCCTTCAGTGGTCATACGCCGGCAGCGAGAGTGTGTTGACAGGTGTTGAGCACTGCTGTGTATCCCGCCTGGGAACATCCCAGTCCTGGCTCCTGGGGCTCCACATGTGCTGGGGTAGGGAGGACAATGGGTGTCAGTGGCTGTGGCCATGATGGGGGACACATAGGCATGAGAGGCCGAAAGAGGGGCCTCTCATCAAAGAGCCCCAAAGTGGCCAACAGAAGTCAGAGAGNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 301,649 |
Clinical significance of chromosome 19, position 19198121, gene RFXANK (regulatory factor X associated ankyrin containing protein): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['MHC_class_II_deficiency', 'MHC_class_II_deficiency_2']
|
AAGTTTTTTATTATTTCTCTATGTCTGATGCACCTACTTGACCCCCGACTCCCTAGAGGGCAAAAACTATGTCTTGTTTGCTCAGAACATTGCCAGGCAGGGAGGAGAAAGATGCACCCTGGGTATTCAAGAGAGTAGAGTGAGTGAATGGTGGAGTCCCAGGCACTGCCTTTGGTAGCTCCAAGACCCCAGGGAGATACCGAAGGCAGTAGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCGACAGAGCAAGACTCCATCTCTACCAATATATATATATTTTTAATTTGCTGGGTATGGTGGCACCTGTAGTTTCAGCTGCTCAGGAGGCTGAGGTGGGAGGTTGGCTTGAGCCCAGGAGGTTGAGGCTGAAGTGAACTGTGATCACACCACCGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACCCCAATAGCTGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGATTTGAGGTCAGGAGTTTGAAATTAGCCTGGCCAACATAGCGAAACCCCGTCTCTACTTAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATGATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGGGGACAGACGGAGACTCCATCTCAAACAACAACAGCAACAAAAAAAAACAGATGGGCTTCTGTCCTGAAGCCTCAGAGACATCTACTGAGGGGAAACTGACGCCTGTTGTCTGTTTCCCAGCAGGCAGCTCCCTGAAGCACTCCACCACTCTCACCAACCGGCAGCGAGGGAACGAGGTGTCAGCTCTGCCGGCCACCCTAGACTGTGAGTGGGCCCACGGTCCCCAACAAGGAGAGGAGTAGGAGGGTGGGAGGGCCTGTGAGGAGCAATCGTGGACAGAGGGTAAACTGAGGCACAGAGAAGCAAGGGGATGAGTGAGGACTCTGCCTCTGTCCTGCCCCAGCCCTGTCCATCCACCAGCTCGCAGCACAGGGGGAGCTGGACCAGCTGAAGGAGCATTTGCGGAAAGGTGCGTGTCCACACACATGTGCTGGCATGTCTGCACCTGGCTGGTGTGTGCATATGGGTGTCCATACCCACTCATGACGTGACCTGTGAGTGTCCACGTGTATGATTGTATCTAACTGTGTGTGTGACCGTGTTCATGTATGTCCATCAACATACGCTCCCCCTCATTCCCCTGTCTAACCCCAGCCCCCCACCTCGTCCCCATTTGGCAGCACTGGGGATAGGGGGCAGGGGTGCAGCCTGGTGGTATTGCCCGCCTCCTCCTGCCAGGTGACAACCTCGTCAACAAGCCAGACGAGCGCGGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGAGAGATTGAGACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCCGGGGGCCTTAGGGTGGGCTGGGGTTTTGGCTGTGTCTGCTGGCGCCTTGTCTTTGAGATGCGGCTGCTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTCGTGGTGGGTGCCTGTAATCCCAGGTACTCTGGAGGCTGAGGTGGGAGAACTGTGTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCCAAAAAAAAAAAAAAAGATGCGGCTGCTGTGGGTACCCCAGGATTCCTGGTTATGCCCCAATCCATCCTACCACTGTCCCTTCTTCTCCCTGCAGGGTGCCGACCCCCACATCCTGGCAAAAGAGCGAGAGAGCGCCCTGTCGCTGGCCAGCACAGGCGGCTACACAGACATTGTGGGGCTGCTGCTGGAGCGTGACGTGGACATCAACATCTATGATTGGGTGAGGGACTGCCCATCCCCAGGACCTCTCAGCCTCCTGGCCTTCATTCCTGCCTCAAATGTTCACAGAGTACTTGAAAGGTGCAGGCCTGCTCTAGGTGCCGAGAACACGAGACAGCCCCATTCCCAGCCTCACAGAGCAGAGCTCCCCATGCAGGGAAGGCAGACATGGAAACAGGCAGCTGAGATGCAGTGAACTGCGCTGCGATGGCAGATGCACAGGTGGCTACAAGAGCCCCATGTGGGCAAGGGAAATCAGAGAGGTCTTCCTGGAGGAAGGTGTCTAAGCTTGAGACCCCAGAAAGTGAGATGGGCCCAGTGATGAGCAGGAGGAACCACGTTCAACTGGAGGCCAGAGAGTACAAGGCATTTTGAGAATGAGGAAGAGGTAAACCTTTGGTTTCTCCTGCCCCTACCCACGACAGAATGGAGGGACGCCACTGCTGTACGCTGTGCGCGGGAACCACGTGAAATGCGTTGAGGCCTTGCTGGGTGAGTGGGAGTCGGGAGTGGCCCTGGGGGCCCCAGCACTCCAGCGGGCCCTGCGGGAATCCTGAGGGCAGGGAGACGCCCAAGTGTTGCTTGAAGAGTTCTTGGAGCAGGTAGTCCCTGCCTGCTCTTCTCGGAGGATGGATCAGAGGGGAGGAGGTGGTAGGACCACACGGGAGTCGGGGTCTGGGTTTAGGATCTGGCCAAGAGGCTAAGCACCTCCATCCTCCATGGTTCAGAGACCCTTCAGCCACGTTCTTCAGTGGAGACCAAGATAGCAGAGGTTGGACCCTTGTCAAAGGCCACATGGGCAACGGGCAGACCCACGGCTGCATTGTGGGGAATGAGGGGTGCCATGGGATCTCCCAGGTCCCCAGACCCCATTCTGGACTCCCAGGCCCCACCCTCCAGCGCCCTCCCCTCTCCTTTGCAGCCCGAGGCGCTGACCTCACCACCGAAGCCGACTCTGGCTACACCCCGATGGACCTTGCCGTGGCCCTGGGATACCGGAAAGGTCAGCCTGAGACACACAGAGCAGGGGTGGGGTCCCTTCCATAGGCAGGGTGACCATAAAGGGGTACATGGGACACCCCTTCAGTGGTCATACGCCGGCAGCGAGAGTGTGTTGACAGGTGTTGAGCACTGCTGTGTATCCCGCCTGGGAACATCCCAGTCCTGGCTCCTGGGGCTCCACATGTGCTGGGGTAGGGAGGACAATGGGTGTCAGTGGCTGTGGCCATGATGGGGGACACATAGGCATGAGAGGCCGAAAGAGGGGCCTCTCATCAAAGAGCCCCAAAGTGGCCAACAGAAGTCAGAGAGGCTTCCTGGAGGAAGGTGTCTTAAGGTTGAGACCCCGAGAAGTGAGGTGGGCCCAGCCCTGGGATGGGGAGGTCAGGGAAGGATTCTGGGGGACCTGAAGGGAGGGAGAATGGCATCCAGGTGGGAGGAGTGGCCCCTGCGGAGGCCTGGCAGTGAGGACACCAAGGGGTAGGCGACCAGGCCATAGTGCACAGAGCCACAGAGGCCATCCCTCTCCGTGGCGGGCAGTGGGTTTGAACAGGGGCCATAGGCAGACCCCAGTTTGACTCCATTTTCTCTGTCACAATGGGACCCCAACTTCCCCATCCATAAAATGGGGAGATCCCAATTGAACCGACCCCCTGGGGTCATGGTAGAGATGGGGTGCTTAGGAAATATCCCCCTCCTTCCTTCAGAGTTTTACTGTGTTTGGGACAGAAATCATTCCTCTTCCCTCCTCATGTTTTCGGGGGGTTTGTTTTTTTGTTCGAGGCAGAAAGTCTTGCTCTATCACCCAGGCTGGAATGAAGTGGTGCAGGCACAGCTTACTGCAGCCTCGATCTCCCAGGCTCAAGTGATCCTCCCACCACAGCCTCCCGAGTAGCTGGGACCACAGGCATTCGTCACCATGCCTGGCTAATTTTTTG
|
AAGTTTTTTATTATTTCTCTATGTCTGATGCACCTACTTGACCCCCGACTCCCTAGAGGGCAAAAACTATGTCTTGTTTGCTCAGAACATTGCCAGGCAGGGAGGAGAAAGATGCACCCTGGGTATTCAAGAGAGTAGAGTGAGTGAATGGTGGAGTCCCAGGCACTGCCTTTGGTAGCTCCAAGACCCCAGGGAGATACCGAAGGCAGTAGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCGACAGAGCAAGACTCCATCTCTACCAATATATATATATTTTTAATTTGCTGGGTATGGTGGCACCTGTAGTTTCAGCTGCTCAGGAGGCTGAGGTGGGAGGTTGGCTTGAGCCCAGGAGGTTGAGGCTGAAGTGAACTGTGATCACACCACCGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACCCCAATAGCTGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGATTTGAGGTCAGGAGTTTGAAATTAGCCTGGCCAACATAGCGAAACCCCGTCTCTACTTAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATGATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGGGGACAGACGGAGACTCCATCTCAAACAACAACAGCAACAAAAAAAAACAGATGGGCTTCTGTCCTGAAGCCTCAGAGACATCTACTGAGGGGAAACTGACGCCTGTTGTCTGTTTCCCAGCAGGCAGCTCCCTGAAGCACTCCACCACTCTCACCAACCGGCAGCGAGGGAACGAGGTGTCAGCTCTGCCGGCCACCCTAGACTGTGAGTGGGCCCACGGTCCCCAACAAGGAGAGGAGTAGGAGGGTGGGAGGGCCTGTGAGGAGCAATCGTGGACAGAGGGTAAACTGAGGCACAGAGAAGCAAGGGGATGAGTGAGGACTCTGCCTCTGTCCTGCCCCAGCCCTGTCCATCCACCAGCTCGCAGCACAGGGGGAGCTGGACCAGCTGAAGGAGCATTTGCGGAAAGGTGCGTGTCCACACACATGTGCTGGCATGTCTGCACCTGGCTGGTGTGTGCATATGGGTGTCCATACCCACTCATGACGTGACCTGTGAGTGTCCACGTGTATGATTGTATCTAACTGTGTGTGTGACCGTGTTCATGTATGTCCATCAACATACGCTCCCCCTCATTCCCCTGTCTAACCCCAGCCCCCCACCTCGTCCCCATTTGGCAGCACTGGGGATAGGGGGCAGGGGTGCAGCCTGGTGGTATTGCCCGCCTCCTCCTGCCAGGTGACAACCTCGTCAACAAGCCAGACGAGCGCGGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGAGAGATTGAGACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCCGGGGGCCTTAGGGTGGGCTGGGGTTTTGGCTGTGTCTGCTGGCGCCTTGTCTTTGAGATGCGGCTGCTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTCGTGGTGGGTGCCTGTAATCCCAGGTACTCTGGAGGCTGAGGTGGGAGAACTGTGTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCCAAAAAAAAAAAAAAAGATGCGGCTGCTGTGGGTACCCCAGGATTCCTGGTTATGCCCCAATCCATCCTACCACTGTCCCTTCTTCTCCCTGCAGGGTGCCGACCCCCACCCTGGCAAAAGAGCGAGAGAGCGCCCTGTCGCTGGCCAGCACAGGCGGCTACACAGACATTGTGGGGCTGCTGCTGGAGCGTGACGTGGACATCAACATCTATGATTGGGTGAGGGACTGCCCATCCCCAGGACCTCTCAGCCTCCTGGCCTTCATTCCTGCCTCAAATGTTCACAGAGTACTTGAAAGGTGCAGGCCTGCTCTAGGTGCCGAGAACACGAGACAGCCCCATTCCCAGCCTCACAGAGCAGAGCTCCCCATGCAGGGAAGGCAGACATGGAAACAGGCAGCTGAGATGCAGTGAACTGCGCTGCGATGGCAGATGCACAGGTGGCTACAAGAGCCCCATGTGGGCAAGGGAAATCAGAGAGGTCTTCCTGGAGGAAGGTGTCTAAGCTTGAGACCCCAGAAAGTGAGATGGGCCCAGTGATGAGCAGGAGGAACCACGTTCAACTGGAGGCCAGAGAGTACAAGGCATTTTGAGAATGAGGAAGAGGTAAACCTTTGGTTTCTCCTGCCCCTACCCACGACAGAATGGAGGGACGCCACTGCTGTACGCTGTGCGCGGGAACCACGTGAAATGCGTTGAGGCCTTGCTGGGTGAGTGGGAGTCGGGAGTGGCCCTGGGGGCCCCAGCACTCCAGCGGGCCCTGCGGGAATCCTGAGGGCAGGGAGACGCCCAAGTGTTGCTTGAAGAGTTCTTGGAGCAGGTAGTCCCTGCCTGCTCTTCTCGGAGGATGGATCAGAGGGGAGGAGGTGGTAGGACCACACGGGAGTCGGGGTCTGGGTTTAGGATCTGGCCAAGAGGCTAAGCACCTCCATCCTCCATGGTTCAGAGACCCTTCAGCCACGTTCTTCAGTGGAGACCAAGATAGCAGAGGTTGGACCCTTGTCAAAGGCCACATGGGCAACGGGCAGACCCACGGCTGCATTGTGGGGAATGAGGGGTGCCATGGGATCTCCCAGGTCCCCAGACCCCATTCTGGACTCCCAGGCCCCACCCTCCAGCGCCCTCCCCTCTCCTTTGCAGCCCGAGGCGCTGACCTCACCACCGAAGCCGACTCTGGCTACACCCCGATGGACCTTGCCGTGGCCCTGGGATACCGGAAAGGTCAGCCTGAGACACACAGAGCAGGGGTGGGGTCCCTTCCATAGGCAGGGTGACCATAAAGGGGTACATGGGACACCCCTTCAGTGGTCATACGCCGGCAGCGAGAGTGTGTTGACAGGTGTTGAGCACTGCTGTGTATCCCGCCTGGGAACATCCCAGTCCTGGCTCCTGGGGCTCCACATGTGCTGGGGTAGGGAGGACAATGGGTGTCAGTGGCTGTGGCCATGATGGGGGACACATAGGCATGAGAGGCCGAAAGAGGGGCCTCTCATCAAAGAGCCCCAAAGTGGCCAACAGAAGTCAGAGAGGCTTCCTGGAGGAAGGTGTCTTAAGGTTGAGACCCCGAGAAGTGAGGTGGGCCCAGCCCTGGGATGGGGAGGTCAGGGAAGGATTCTGGGGGACCTGAAGGGAGGGAGAATGGCATCCAGGTGGGAGGAGTGGCCCCTGCGGAGGCCTGGCAGTGAGGACACCAAGGGGTAGGCGACCAGGCCATAGTGCACAGAGCCACAGAGGCCATCCCTCTCCGTGGCGGGCAGTGGGTTTGAACAGGGGCCATAGGCAGACCCCAGTTTGACTCCATTTTCTCTGTCACAATGGGACCCCAACTTCCCCATCCATAAAATGGGGAGATCCCAATTGAACCGACCCCCTGGGGTCATGGTAGAGATGGGGTGCTTAGGAAATATCCCCCTCCTTCCTTCAGAGTTTTACTGTGTTTGGGACAGAAATCATTCCTCTTCCCTCCTCATGTTTTCGGGGGGTTTGTTTTTTTGTTCGAGGCAGAAAGTCTTGCTCTATCACCCAGGCTGGAATGAAGTGGTGCAGGCACAGCTTACTGCAGCCTCGATCTCCCAGGCTCAAGTGATCCTCCCACCACAGCCTCCCGAGTAGCTGGGACCACAGGCATTCGTCACCATGCCTGGCTAATTTTTTGNN
|
pathogenic
| 301,653 |
Mutation found at chromosome 19 position 19198146, gene RFXANK (regulatory factor X associated ankyrin containing protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['MHC_class_II_deficiency']
|
TGATGCACCTACTTGACCCCCGACTCCCTAGAGGGCAAAAACTATGTCTTGTTTGCTCAGAACATTGCCAGGCAGGGAGGAGAAAGATGCACCCTGGGTATTCAAGAGAGTAGAGTGAGTGAATGGTGGAGTCCCAGGCACTGCCTTTGGTAGCTCCAAGACCCCAGGGAGATACCGAAGGCAGTAGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCGACAGAGCAAGACTCCATCTCTACCAATATATATATATTTTTAATTTGCTGGGTATGGTGGCACCTGTAGTTTCAGCTGCTCAGGAGGCTGAGGTGGGAGGTTGGCTTGAGCCCAGGAGGTTGAGGCTGAAGTGAACTGTGATCACACCACCGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACCCCAATAGCTGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGATTTGAGGTCAGGAGTTTGAAATTAGCCTGGCCAACATAGCGAAACCCCGTCTCTACTTAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATGATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGGGGACAGACGGAGACTCCATCTCAAACAACAACAGCAACAAAAAAAAACAGATGGGCTTCTGTCCTGAAGCCTCAGAGACATCTACTGAGGGGAAACTGACGCCTGTTGTCTGTTTCCCAGCAGGCAGCTCCCTGAAGCACTCCACCACTCTCACCAACCGGCAGCGAGGGAACGAGGTGTCAGCTCTGCCGGCCACCCTAGACTGTGAGTGGGCCCACGGTCCCCAACAAGGAGAGGAGTAGGAGGGTGGGAGGGCCTGTGAGGAGCAATCGTGGACAGAGGGTAAACTGAGGCACAGAGAAGCAAGGGGATGAGTGAGGACTCTGCCTCTGTCCTGCCCCAGCCCTGTCCATCCACCAGCTCGCAGCACAGGGGGAGCTGGACCAGCTGAAGGAGCATTTGCGGAAAGGTGCGTGTCCACACACATGTGCTGGCATGTCTGCACCTGGCTGGTGTGTGCATATGGGTGTCCATACCCACTCATGACGTGACCTGTGAGTGTCCACGTGTATGATTGTATCTAACTGTGTGTGTGACCGTGTTCATGTATGTCCATCAACATACGCTCCCCCTCATTCCCCTGTCTAACCCCAGCCCCCCACCTCGTCCCCATTTGGCAGCACTGGGGATAGGGGGCAGGGGTGCAGCCTGGTGGTATTGCCCGCCTCCTCCTGCCAGGTGACAACCTCGTCAACAAGCCAGACGAGCGCGGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGAGAGATTGAGACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCCGGGGGCCTTAGGGTGGGCTGGGGTTTTGGCTGTGTCTGCTGGCGCCTTGTCTTTGAGATGCGGCTGCTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTCGTGGTGGGTGCCTGTAATCCCAGGTACTCTGGAGGCTGAGGTGGGAGAACTGTGTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCCAAAAAAAAAAAAAAAGATGCGGCTGCTGTGGGTACCCCAGGATTCCTGGTTATGCCCCAATCCATCCTACCACTGTCCCTTCTTCTCCCTGCAGGGTGCCGACCCCCACATCCTGGCAAAAGAGCGAGAGAGCGCCCTGTCGCTGGCCAGCACAGGCGGCTACACAGACATTGTGGGGCTGCTGCTGGAGCGTGACGTGGACATCAACATCTATGATTGGGTGAGGGACTGCCCATCCCCAGGACCTCTCAGCCTCCTGGCCTTCATTCCTGCCTCAAATGTTCACAGAGTACTTGAAAGGTGCAGGCCTGCTCTAGGTGCCGAGAACACGAGACAGCCCCATTCCCAGCCTCACAGAGCAGAGCTCCCCATGCAGGGAAGGCAGACATGGAAACAGGCAGCTGAGATGCAGTGAACTGCGCTGCGATGGCAGATGCACAGGTGGCTACAAGAGCCCCATGTGGGCAAGGGAAATCAGAGAGGTCTTCCTGGAGGAAGGTGTCTAAGCTTGAGACCCCAGAAAGTGAGATGGGCCCAGTGATGAGCAGGAGGAACCACGTTCAACTGGAGGCCAGAGAGTACAAGGCATTTTGAGAATGAGGAAGAGGTAAACCTTTGGTTTCTCCTGCCCCTACCCACGACAGAATGGAGGGACGCCACTGCTGTACGCTGTGCGCGGGAACCACGTGAAATGCGTTGAGGCCTTGCTGGGTGAGTGGGAGTCGGGAGTGGCCCTGGGGGCCCCAGCACTCCAGCGGGCCCTGCGGGAATCCTGAGGGCAGGGAGACGCCCAAGTGTTGCTTGAAGAGTTCTTGGAGCAGGTAGTCCCTGCCTGCTCTTCTCGGAGGATGGATCAGAGGGGAGGAGGTGGTAGGACCACACGGGAGTCGGGGTCTGGGTTTAGGATCTGGCCAAGAGGCTAAGCACCTCCATCCTCCATGGTTCAGAGACCCTTCAGCCACGTTCTTCAGTGGAGACCAAGATAGCAGAGGTTGGACCCTTGTCAAAGGCCACATGGGCAACGGGCAGACCCACGGCTGCATTGTGGGGAATGAGGGGTGCCATGGGATCTCCCAGGTCCCCAGACCCCATTCTGGACTCCCAGGCCCCACCCTCCAGCGCCCTCCCCTCTCCTTTGCAGCCCGAGGCGCTGACCTCACCACCGAAGCCGACTCTGGCTACACCCCGATGGACCTTGCCGTGGCCCTGGGATACCGGAAAGGTCAGCCTGAGACACACAGAGCAGGGGTGGGGTCCCTTCCATAGGCAGGGTGACCATAAAGGGGTACATGGGACACCCCTTCAGTGGTCATACGCCGGCAGCGAGAGTGTGTTGACAGGTGTTGAGCACTGCTGTGTATCCCGCCTGGGAACATCCCAGTCCTGGCTCCTGGGGCTCCACATGTGCTGGGGTAGGGAGGACAATGGGTGTCAGTGGCTGTGGCCATGATGGGGGACACATAGGCATGAGAGGCCGAAAGAGGGGCCTCTCATCAAAGAGCCCCAAAGTGGCCAACAGAAGTCAGAGAGGCTTCCTGGAGGAAGGTGTCTTAAGGTTGAGACCCCGAGAAGTGAGGTGGGCCCAGCCCTGGGATGGGGAGGTCAGGGAAGGATTCTGGGGGACCTGAAGGGAGGGAGAATGGCATCCAGGTGGGAGGAGTGGCCCCTGCGGAGGCCTGGCAGTGAGGACACCAAGGGGTAGGCGACCAGGCCATAGTGCACAGAGCCACAGAGGCCATCCCTCTCCGTGGCGGGCAGTGGGTTTGAACAGGGGCCATAGGCAGACCCCAGTTTGACTCCATTTTCTCTGTCACAATGGGACCCCAACTTCCCCATCCATAAAATGGGGAGATCCCAATTGAACCGACCCCCTGGGGTCATGGTAGAGATGGGGTGCTTAGGAAATATCCCCCTCCTTCCTTCAGAGTTTTACTGTGTTTGGGACAGAAATCATTCCTCTTCCCTCCTCATGTTTTCGGGGGGTTTGTTTTTTTGTTCGAGGCAGAAAGTCTTGCTCTATCACCCAGGCTGGAATGAAGTGGTGCAGGCACAGCTTACTGCAGCCTCGATCTCCCAGGCTCAAGTGATCCTCCCACCACAGCCTCCCGAGTAGCTGGGACCACAGGCATTCGTCACCATGCCTGGCTAATTTTTTGTTGTTGCTTTTTTTTTTTTTTTTTT
|
TGATGCACCTACTTGACCCCCGACTCCCTAGAGGGCAAAAACTATGTCTTGTTTGCTCAGAACATTGCCAGGCAGGGAGGAGAAAGATGCACCCTGGGTATTCAAGAGAGTAGAGTGAGTGAATGGTGGAGTCCCAGGCACTGCCTTTGGTAGCTCCAAGACCCCAGGGAGATACCGAAGGCAGTAGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCGACAGAGCAAGACTCCATCTCTACCAATATATATATATTTTTAATTTGCTGGGTATGGTGGCACCTGTAGTTTCAGCTGCTCAGGAGGCTGAGGTGGGAGGTTGGCTTGAGCCCAGGAGGTTGAGGCTGAAGTGAACTGTGATCACACCACCGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACCCCAATAGCTGGGTGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATGATTTGAGGTCAGGAGTTTGAAATTAGCCTGGCCAACATAGCGAAACCCCGTCTCTACTTAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTATGATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGTACTCCAGCCTGGGGGACAGACGGAGACTCCATCTCAAACAACAACAGCAACAAAAAAAAACAGATGGGCTTCTGTCCTGAAGCCTCAGAGACATCTACTGAGGGGAAACTGACGCCTGTTGTCTGTTTCCCAGCAGGCAGCTCCCTGAAGCACTCCACCACTCTCACCAACCGGCAGCGAGGGAACGAGGTGTCAGCTCTGCCGGCCACCCTAGACTGTGAGTGGGCCCACGGTCCCCAACAAGGAGAGGAGTAGGAGGGTGGGAGGGCCTGTGAGGAGCAATCGTGGACAGAGGGTAAACTGAGGCACAGAGAAGCAAGGGGATGAGTGAGGACTCTGCCTCTGTCCTGCCCCAGCCCTGTCCATCCACCAGCTCGCAGCACAGGGGGAGCTGGACCAGCTGAAGGAGCATTTGCGGAAAGGTGCGTGTCCACACACATGTGCTGGCATGTCTGCACCTGGCTGGTGTGTGCATATGGGTGTCCATACCCACTCATGACGTGACCTGTGAGTGTCCACGTGTATGATTGTATCTAACTGTGTGTGTGACCGTGTTCATGTATGTCCATCAACATACGCTCCCCCTCATTCCCCTGTCTAACCCCAGCCCCCCACCTCGTCCCCATTTGGCAGCACTGGGGATAGGGGGCAGGGGTGCAGCCTGGTGGTATTGCCCGCCTCCTCCTGCCAGGTGACAACCTCGTCAACAAGCCAGACGAGCGCGGCTTCACCCCCCTCATCTGGGCCTCCGCCTTTGGAGAGATTGAGACCGTTCGCTTCCTGCTGGAGTGGGTGCGTCCCAGCCCAGCTGGGCAGCTGGGGGGTTCCCGGGGGCCTTAGGGTGGGCTGGGGTTTTGGCTGTGTCTGCTGGCGCCTTGTCTTTGAGATGCGGCTGCTGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCCGGCCAACATGGGTGAAACCCTGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTCGTGGTGGGTGCCTGTAATCCCAGGTACTCTGGAGGCTGAGGTGGGAGAACTGTGTGAACCTGGGAGGCGGAGGTAGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCCAAAAAAAAAAAAAAAGATGCGGCTGCTGTGGGTACCCCAGGATTCCTGGTTATGCCCCAATCCATCCTACCACTGTCCCTTCTTCTCCCTGCAGGGTGCCGACCCCCACATCCTGGCAAAAGAGCGAGAGAGCGCCTGTCGCTGGCCAGCACAGGCGGCTACACAGACATTGTGGGGCTGCTGCTGGAGCGTGACGTGGACATCAACATCTATGATTGGGTGAGGGACTGCCCATCCCCAGGACCTCTCAGCCTCCTGGCCTTCATTCCTGCCTCAAATGTTCACAGAGTACTTGAAAGGTGCAGGCCTGCTCTAGGTGCCGAGAACACGAGACAGCCCCATTCCCAGCCTCACAGAGCAGAGCTCCCCATGCAGGGAAGGCAGACATGGAAACAGGCAGCTGAGATGCAGTGAACTGCGCTGCGATGGCAGATGCACAGGTGGCTACAAGAGCCCCATGTGGGCAAGGGAAATCAGAGAGGTCTTCCTGGAGGAAGGTGTCTAAGCTTGAGACCCCAGAAAGTGAGATGGGCCCAGTGATGAGCAGGAGGAACCACGTTCAACTGGAGGCCAGAGAGTACAAGGCATTTTGAGAATGAGGAAGAGGTAAACCTTTGGTTTCTCCTGCCCCTACCCACGACAGAATGGAGGGACGCCACTGCTGTACGCTGTGCGCGGGAACCACGTGAAATGCGTTGAGGCCTTGCTGGGTGAGTGGGAGTCGGGAGTGGCCCTGGGGGCCCCAGCACTCCAGCGGGCCCTGCGGGAATCCTGAGGGCAGGGAGACGCCCAAGTGTTGCTTGAAGAGTTCTTGGAGCAGGTAGTCCCTGCCTGCTCTTCTCGGAGGATGGATCAGAGGGGAGGAGGTGGTAGGACCACACGGGAGTCGGGGTCTGGGTTTAGGATCTGGCCAAGAGGCTAAGCACCTCCATCCTCCATGGTTCAGAGACCCTTCAGCCACGTTCTTCAGTGGAGACCAAGATAGCAGAGGTTGGACCCTTGTCAAAGGCCACATGGGCAACGGGCAGACCCACGGCTGCATTGTGGGGAATGAGGGGTGCCATGGGATCTCCCAGGTCCCCAGACCCCATTCTGGACTCCCAGGCCCCACCCTCCAGCGCCCTCCCCTCTCCTTTGCAGCCCGAGGCGCTGACCTCACCACCGAAGCCGACTCTGGCTACACCCCGATGGACCTTGCCGTGGCCCTGGGATACCGGAAAGGTCAGCCTGAGACACACAGAGCAGGGGTGGGGTCCCTTCCATAGGCAGGGTGACCATAAAGGGGTACATGGGACACCCCTTCAGTGGTCATACGCCGGCAGCGAGAGTGTGTTGACAGGTGTTGAGCACTGCTGTGTATCCCGCCTGGGAACATCCCAGTCCTGGCTCCTGGGGCTCCACATGTGCTGGGGTAGGGAGGACAATGGGTGTCAGTGGCTGTGGCCATGATGGGGGACACATAGGCATGAGAGGCCGAAAGAGGGGCCTCTCATCAAAGAGCCCCAAAGTGGCCAACAGAAGTCAGAGAGGCTTCCTGGAGGAAGGTGTCTTAAGGTTGAGACCCCGAGAAGTGAGGTGGGCCCAGCCCTGGGATGGGGAGGTCAGGGAAGGATTCTGGGGGACCTGAAGGGAGGGAGAATGGCATCCAGGTGGGAGGAGTGGCCCCTGCGGAGGCCTGGCAGTGAGGACACCAAGGGGTAGGCGACCAGGCCATAGTGCACAGAGCCACAGAGGCCATCCCTCTCCGTGGCGGGCAGTGGGTTTGAACAGGGGCCATAGGCAGACCCCAGTTTGACTCCATTTTCTCTGTCACAATGGGACCCCAACTTCCCCATCCATAAAATGGGGAGATCCCAATTGAACCGACCCCCTGGGGTCATGGTAGAGATGGGGTGCTTAGGAAATATCCCCCTCCTTCCTTCAGAGTTTTACTGTGTTTGGGACAGAAATCATTCCTCTTCCCTCCTCATGTTTTCGGGGGGTTTGTTTTTTTGTTCGAGGCAGAAAGTCTTGCTCTATCACCCAGGCTGGAATGAAGTGGTGCAGGCACAGCTTACTGCAGCCTCGATCTCCCAGGCTCAAGTGATCCTCCCACCACAGCCTCCCGAGTAGCTGGGACCACAGGCATTCGTCACCATGCCTGGCTAATTTTTTGTTGTTGCTTTTTTTTTTTTTTTTTTN
|
pathogenic
| 301,654 |
Regarding the variant at chromosome 19 and position 29702766, affecting gene C19orf12 (chromosome 19 open reading frame 12): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Abnormal_central_motor_function', 'Neurodegeneration_with_brain_iron_accumulation_4']
|
AGCAATCGCTCTGCAAGAGAAAGGCTCGGCCCTTCCTTAATCACCATGGGTTATAATTCACCCTGACGTCCTTACACACATGGAGGTGCCAGGATACTGAGCTTTCCTATAAGCAGGGCCTCAGCAGAAGTGCCTCCCTCCGAGCCTCCAGGGCCTGAGAGGAGAGCCCCAAGTCCCTGCCCTGCCCCAGGACCTGGGGACCAAGGAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCATGGCCAGCAGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCGACAGCCCCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTGG
|
AGCAATCGCTCTGCAAGAGAAAGGCTCGGCCCTTCCTTAATCACCATGGGTTATAATTCACCCTGACGTCCTTACACACATGGAGGTGCCAGGATACTGAGCTTTCCTATAAGCAGGGCCTCAGCAGAAGTGCCTCCCTCCGAGCCTCCAGGGCCTGAGAGGAGAGCCCCAAGTCCCTGCCCTGCCCCAGGACCTGGGGACCAAGGAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCAATGGCCAGCAGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCGACAGCCCCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTG
|
pathogenic
| 301,713 |
A genetic variant on chromosome 19, position 29702956, affects the gene C19orf12 (chromosome 19 open reading frame 12). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['C19orf12-related_disorder', 'Hereditary_spastic_paraplegia_43', 'Neurodegeneration_with_brain_iron_accumulation', 'Neurodegeneration_with_brain_iron_accumulation_4']
|
GACCTGGGGACCAAGGAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCATGGCCAGCAGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCGACAGCCCCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTGGGCCAACCAAGCCTTGAATCGCATGGACCTTCCGAGGCCCAGGACACAGAAGAGCTGGACAGCTTGGTTCCTATGGAGTGGCAGTGGCTACTTCACGCCAGTTCATTGCTACCACACAAAATACCAGATTTGTAGCTTTAAAACATCTCACGATTTTTAAATATCACCAATCAGATATTTAAAGATGAAGC
|
GACCTGGGGACCAAGGAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCATGGCCAGCAGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTGGGCCAACCAAGCCTTGAATCGCATGGACCTTCCGAGGCCCAGGACACAGAAGAGCTGGACAGCTTGGTTCCTATGGAGTGGCAGTGGCTACTTCACGCCAGTTCATTGCTACCACACAAAATACCAGATTTGTAGCTTTAAAACATCTCACGATTTTTAAATATCACCAATCAGATATTTAAAGATGAAGCNNNNNNNNNNN
|
pathogenic
| 301,720 |
Variant at chromosome position 29702971, chromosome 19, gene C19orf12 (chromosome 19 open reading frame 12): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Hereditary_spastic_paraplegia', 'Hereditary_spastic_paraplegia_43', 'Neurodegeneration_with_brain_iron_accumulation_4']
|
GAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCATGGCCAGCAGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCGACAGCCCCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTGGGCCAACCAAGCCTTGAATCGCATGGACCTTCCGAGGCCCAGGACACAGAAGAGCTGGACAGCTTGGTTCCTATGGAGTGGCAGTGGCTACTTCACGCCAGTTCATTGCTACCACACAAAATACCAGATTTGTAGCTTTAAAACATCTCACGATTTTTAAATATCACCAATCAGATATTTAAAGATGAAGCCCACTAGACTTAGTG
|
GAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCATGGCCAGCAGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCGACAGCCCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTGGGCCAACCAAGCCTTGAATCGCATGGACCTTCCGAGGCCCAGGACACAGAAGAGCTGGACAGCTTGGTTCCTATGGAGTGGCAGTGGCTACTTCACGCCAGTTCATTGCTACCACACAAAATACCAGATTTGTAGCTTTAAAACATCTCACGATTTTTAAATATCACCAATCAGATATTTAAAGATGAAGCCCACTAGACTTAGTGN
|
pathogenic
| 301,723 |
A genetic variant on chromosome 19, position 29702971, affects the gene C19orf12 (chromosome 19 open reading frame 12). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Hereditary_spastic_paraplegia_43', 'Neurodegeneration_with_brain_iron_accumulation', 'Neurodegeneration_with_brain_iron_accumulation_4', 'Neurofibromatosis,_type_1']
|
GAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCATGGCCAGCAGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCGACAGCCCCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTGGGCCAACCAAGCCTTGAATCGCATGGACCTTCCGAGGCCCAGGACACAGAAGAGCTGGACAGCTTGGTTCCTATGGAGTGGCAGTGGCTACTTCACGCCAGTTCATTGCTACCACACAAAATACCAGATTTGTAGCTTTAAAACATCTCACGATTTTTAAATATCACCAATCAGATATTTAAAGATGAAGCCCACTAGACTTAGTG
|
GAATAACATTTTTTGTAGAGATGGAGGTCTCACTATATTGCCCAGGCTAGTTTCAAACTCTTGGCCTCAAGCGATCCTCCCACTTTGGCCTCCAAAAGTGCCGACATTACAAGCATGAGCCACCTCACCTGACCTACTCTTGCATTCTTTAAAGCCACAAATCTGGTACCTTCCCTCTTGTTCCATTTGTAAGACTTTGAATATTAGAGATATTTTACACATAATATGTGGGAAAATGGCTTTTTAGAAAAACATTTATTGTAATCGATCACATTCAAGTCGTAGTTCTGAAAGCAAAGTGAAAACACACAGTACAGCTATGCCTCAGTATCCATGGGGGATGGGTTCCAGGACTGCAACCTCAACCCTCAGACACCGACATCTGAGGATGCTCAAGTCCCTGATGGGCAATGGCATAGCGTTTGCACGTAACCTACGCACACCTTCCTGTATAATTTAAATCATCTCTAGATTTCTTATAATACCAAATACAATATAAATGCTATGTAAATATGCTACACCATATTGTTTAGGGAATAATGGCAAGAAAAAAAGGTCTGTACGTGTTCAGTACCAATGCAATTTCTTTTTTCAAATATTTCCTATCCAAGGCTGGTTGGATCTAAATGTGGAGACCACAGTTACGGAGAGCTGACTGTACTGGGGAAATCTTTAGGGTAGAAACATTTCTTAGAGATGGTTTATATCACACCACTTCAGAAAGAGCAATACAGGCATACCTCATTCTACTATGCTTTGTGAATACTGTGTTTTTTTTTTAAATTGAAGGTTTGTAGCAGCCTGGCATCAGGCAAGTCTATTTGGCACCATTTTCCAACAGCATGTGCTCACTTTGCGTTTCTGTGTCAGCATTTTGAACAGTAAATATTTTTAAATTAAGGTTTGTACATTTGTTAGACATAATGCTATTGCACATTTAGTGGACTGCAATATGCAGTAAACATGACTTAGATGCACTGGGAAACTAAAACAATGCGCTTCCTTGCTTTATTGTGATGTTGGCTTTACCGAGGTGGTCTGGAACTGAACCCACAATATCTCCGAGATATACCTGTACTTTTTACTAAAAATATTTCATTTGAGAAGTAAACCTCAAGAACTACCAGGACTTTTCAGATGGGAAGAGCGAGGCCCTGGCAGGGCGAGTCTAGGTGTGCAGCCTAGTGGGGGCCGGGGTCAAGTCCACTCGGTATTTGTGGCTTCACTCAGCAGGCCGCCCGTCCCCTCCGTGGGGCCATTCGACAGTCCCTGGGTAGGGGACGGTTGCACTAGGAGGTAAACATGATTCCAGCATGGGCTGCTCCAAGGCCCTGAGACCCCAGGACCTGCAGGGGGGTGGGATCCAGTCCTGCAGCAGGTGCTCTGAAGAGGAGTCATCTCCCAAGATGAGAAGGCCCCGGGGGGAGGATGAAGTGTGGTCAGACCGTCGGCTGAGCGTGATCACTTCCCCAGACCCATGCGGGTGAGAGGACTCAGCAGACGCCTCCGAAGCCTGCGGCAGGCAGGCCTTTACTCTTCACTGGGGGGCCAGTCAGAGGGCTGTCATGGCAGGCCAGTGCACATGCCACCAACACATGCTGCTTCATCAGTAATTTCTGGAACATGACACTGCACAGCGGTGGCCTCTCCAGCGGGACATTACTAGTAATACACTGATGATGTGGAGATTCCCCAGGGGGCATCCGCTGGGCTTCTCCCAACTCCCAAGCCACCTCTTCAGAATCACAGAGTCATTTAAAGGGGCCCCCCACCTCCCCGGAGGTGCGGCCTAGTCATCATACTGGATCTCGGCCCGCAGCTCCTTGGTGACGTAGTTCACCAGCATGGCCAGCAGCTGCTGCTGCAGGGCCTCGCTGCCCATGACCAGCGCGGTCAGCTGCACGGCGTCCGTCCACTCCAGGTGCCTGATGATGGCTGCGGCTTCGTTAAAGAGCCTCTGTTGCTCGGCAGGGGGCAGCTCCATTAGGATCTGAGGAACCGGCTTAAACTGTCCACTTGTCATCCAGGCACCTAACAGCCCCCCGACAGCCCCTAGAAAACATGGAATCGTTCAATTAGTGGGTCTTATTCATAAGCGATGGCCTTACTTAAGTTCCCACTGAGTGCACACCACCATCACCATGAGCAGGCACATTCATGAGCGGGCTGCAGCGGGCTCAGCCGGTGCCACGCCTGCTCCGCCAGCCAGTGTGGAGGGCAAAGGTTTATGCAGTCTTCTGTCCATTTGGCTCAGATAATTGACACCCAACATGCATTCCCTGGGCTCCACATTTAAGGATGCAAAATGAAGCCTGCCTGCCCCATCTCCCACCTCAGTGCTGGGCCCACTTTCTTCTTCATGAGCTGACGGAGGTTTCTGGGCTTACTGTAAAAATCCCTCTCTAATCACAAAGGAGAAGGCTGAGAAACAAATGCATTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTGTATTTTTGTAGAAACAGGGTTTCACCATGTTGGCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTACCTCGGCCCCGCAAAGTGCTGGGATTATAGGCATGAGCCACCACAACCAGCCACAAATGCATTTTCAAGAGAAACCATCTCAGGCTGGGTGCGGTGGCTCATGCCTGTAATATCAGCAATTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCGACACCAGCCTGGCCGACATGGTGAAACACCATCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGGGGCACATGCCTGTAATCCCAGATACTTGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAAGTAGAGGTTGCAGTGAGCCGAGATCATACCCTTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAGAAACCATCTCAGTGGTGAGACTGAATTTCCTCCACCAGGCAGCTGATATGCTCCTTGCCCCTGAACTTAGAAAATCTTCAGTGAGCCCATGTGGTTAAAGGACCTGGGGACAGATAAGGAGGCTCTTTCCTCTTGAAGCAGTGCTTTTCATAGATCCCCTCCAAGTTGTATGATCGATAAATAACAAACTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCGAATCACGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATAGTGGTGGGTGCCTGTAATCCCAGCTACTGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAATATCAAATGTAAGGTAGCTTACTATTTCTACTTCTGCCACCCTAAAAGGGCAGAAACATTATTGTTAAATGTAAACTCATTGCCAAGGCTATGTCATGCTATTCTGGGACTTAAAGACCTTGTATCCACGGAAAGTTCTACCTGAAGAGGCCACGTGCAGAATATGGTGCAGAGAAGCGGAAGGTGCCCTAGGGAAGGGGTCCAAAGTCAAGTGCCTCCAAGAGCCAGGGAGGAACTAAGAAGAGTGAAGGGGCGGTTGGGCCTTACCCGGCCTCTCCCCTGCTGAGATTGGATGGGTGGCAGGCTCTGACTTCATCCCAGTCTATAGTCTGGGCCAACCAAGCCTTGAATCGCATGGACCTTCCGAGGCCCAGGACACAGAAGAGCTGGACAGCTTGGTTCCTATGGAGTGGCAGTGGCTACTTCACGCCAGTTCATTGCTACCACACAAAATACCAGATTTGTAGCTTTAAAACATCTCACGATTTTTAAATATCACCAATCAGATATTTAAAGATGAAGCCCACTAGACTTAGTGNNN
|
pathogenic
| 301,724 |
Variant in SLC7A9 (solute carrier family 7 member 9), chromosome 19, position 32833280—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Cystinuria']
|
TCCTGCAGTTGAATCTGTTGTAAAGGATAAAACATTGTGAATGTAATATAGACTTTTTGTTTTTGTGTTTTTTGAGATGGACTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGGGGGATCTTGGCTTACCGCAAGCTCCGCCTCCCGAGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCGTGTTAGCCACGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCGGCCCGATATAGACTTTTTTAAAGGTGTAATTCCGTCTCTTTTGATGTACTTTGACACAAGTGCTTTCTTTTCAGAAGCAAAAGTGGCTACTAACATAGCTAAACTTTTAAACAACTGTCCTAAAACTGATGAGGGTCAGGACTGCTGAAAGAGTGAGCCCTGTGCCCTTGGCATTAAAAGGCTTGGGCCCCAGCCCAGTTCCCCAGGCCAAGGCCATGACTTTTTGTGTGTCTTTGCAATGCTGCTAGGCCTCTTAGATGATGTCTGCATATCAGACAAAGGAGAATGGTGTTTCAGGATGAGACGCATGATGGTGGGAATATGCCTAATGCTACTGAACTTTACACTGACAAGTGGCTGAGATAGAAACGTTTATGTTGTGTGTCTTTCGCAATTAAAAAGAAAATGGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCTACATTTCGGGAGACTGATGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGACTCTACTAAAAATACAAAACAACAACAAGGAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACGTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCAGTGCATTCCAGCCTGGACAACAAGAGCAAAACTCCATCTCAAAACAAAGAAAATGGGCCGGGCGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTAAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTAAAACCTCATCTGTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCACAAGAATCGCTTGAACCGGGAGGTGGAGGTTGCACAGTGAGCTGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAACGGCCAGGTACGGTGGCTTAGGCCAGTAGTCCCAGCACTTTGGAGAGCCAAGGTGGAAGGGTCATTTGAGCCCAGGAGTTCAAGACCAGTCTGGGCCACCTAGCGAGACTCCTTCTCTACAAAAAGTAAAAAAAATAGCCAGGTGTAGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCCCAGGTGGGAGGATGGCTTGAGCCCGGGAGTTCAAGACTGCAGTGAGCTATGACCATGCCACTGCACTTTAGCCTGGGCAACAGAGCAAGACTGTGTCTCCAAAAAGAAAAGAAAATGGTGCTTTCCCTTCCTACTTATTACAGTAATTGACAGGAACAAAACAATCAAGGGTGGACCCAGAGGTGTACAGTGAGGGCGTGGGCATGTGTCCTCCTGGGACGAGGGAGATCTGCCAGCAGGGTGAGACACTGTGACAGAGGTCTTGGAGTCAGGACAGGTGAGGACGCCGTGCCTGCCTGCACCTCACAGAGGCCAAGCGGCCCTTCTGTTGGTACTTACTTGAGATTTTCTGAGCCCATCCAAACTTGTAGTGGACAAACAGGAAGTAAAATAAAAGGCCGCTTAATATAAACAGCACACAGTAGAGGTACTCCCAGGTGGGCTTGCTGATGATTGGAGCCAGAACCAAAAACACAGAGATGAGTGTCATCAAGACGGGAATGACTACGGGCACCTGGAGACGAAAAACAGGTCATGGGTACCCATTTTCTTTTTGAAATTTTTCATGATAAAAAACCGATTTTTATAAAAAGAGTATGAACTCCATGTACCCCCTCCTCCAATTTCAATCATTTTAATGTAATTTTGCCAATCTTATTTCATCTATACCTTTTAAAAATTTTCTTTACTTTTTAAAAAGTTTTTTGGCCGGGCATGGGTGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCGAGGCCGGTGGGTCCCTTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATAGTGAAACACCATCTCTACCAAAAACACAAAAGTTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTCCTCAGGAGCTGAGGCAGGAGAGTCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCTAGCCTGGGCCACGGGAGGGAAACTCCATCTCAAAAAAGAAAAAAAAAAATAGATAAACTGTTTAATGTTTTAGCATCCACTGATGATCGTTGCCTTCATTGTTTCATCAGGGTTTGCAAAATGGTGATTTTTCTAATTTGTAATTTCTTCCTCAATTATCTGAAATGCTATATGAAGTACTTCAACTTTCTGGTTATTCTGAATTGCAGTTCATACAGGAAAGGCAGGATTAGTGCTGTATTCTGTGTGTTTCCAGAATGACAAGTTGGGCCCCTGAGACCTCCAAAGGCAACTCCAGCCTGTGGGTTTTTCTATACATGGTGAGTTTCAACCCGTTGTAGTCATTGTTCACGTTGTTCAGAAGGTCCTGTGCGGGGCGGCAGGAACCCCTCACACTGTCCTGGGCCCTGGGAATGGGACGCCAGTGCTCTTCAAAAGCCTCTTTGTTTTCTGGGTGACAAGAAGTGCCATACCTGGGTTTTCATTTATCTCTCCAGAGCCAGACGTGGGTTTTCATCCATTTCTCCAGAGAGCTTTGTTTCCTTTTAGCAGGAAATGGCATTTAAAGACCATAACCTGGAGGCTGGCTGCAGTGGTTCGCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCTAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCAGATGCCTGTAATCCCAGCAACTTGGGAAGCTGAAGCAGGAGAGTCGCTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCAAAGAATGTGCCACTGCACTCCAGCCCAGGAGACAGAGTGAGACTCTAAAAATAAATAAAGACCATAACCTGGGTGATTGGAGTACTCATTATCCTTTTTCAAGGACAGAGATTAATTTTGGTATTCTCTTATTAGGAACAAAGTTAAGTTTGCTGGGATTGTTTTGTTTTCATTTTTAAGTGTCATTGCATTTTTCCTTTGACTGTGTTTTTTTGTTTGTTTTGTTTCCCAAGACAGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAACAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCAACATGCCCAGCTAATTTTTTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCTGCCCATCTTGGCCTCCCAGAGCGCTGGGATTACAGGCATGAGCCAATCACACCCAGCCCCTGAATTAAACTTTTAATTAATGGATTTTCGGTCTTCAGCTACCTTTGCATAGGCTGGACCTAGTCATGATATATTATCTTTTTAGTGTAACTGGGTTCTGTTTGTTAACATTTTATTTTAGATTTTTTATATCGTTATTCCTAAGTGAGATTGGTGAGTACATTTCCCTTTTTTGTGTGAAGTTACCTTTGTAAGGTTTGGTGTCAATGTTACAGTCTAAAAATAATTTGAAAAA
|
TCCTGCAGTTGAATCTGTTGTAAAGGATAAAACATTGTGAATGTAATATAGACTTTTTGTTTTTGTGTTTTTTGAGATGGACTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGGGGGATCTTGGCTTACCGCAAGCTCCGCCTCCCGAGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCGTGTTAGCCACGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCGGCCCGATATAGACTTTTTTAAAGGTGTAATTCCGTCTCTTTTGATGTACTTTGACACAAGTGCTTTCTTTTCAGAAGCAAAAGTGGCTACTAACATAGCTAAACTTTTAAACAACTGTCCTAAAACTGATGAGGGTCAGGACTGCTGAAAGAGTGAGCCCTGTGCCCTTGGCATTAAAAGGCTTGGGCCCCAGCCCAGTTCCCCAGGCCAAGGCCATGACTTTTTGTGTGTCTTTGCAATGCTGCTAGGCCTCTTAGATGATGTCTGCATATCAGACAAAGGAGAATGGTGTTTCAGGATGAGACGCATGATGGTGGGAATATGCCTAATGCTACTGAACTTTACACTGACAAGTGGCTGAGATAGAAACGTTTATGTTGTGTGTCTTTCGCAATTAAAAAGAAAATGGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCTACATTTCGGGAGACTGATGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGACTCTACTAAAAATACAAAACAACAACAAGGAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACGTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCAGTGCATTCCAGCCTGGACAACAAGAGCAAAACTCCATCTCAAAACAAAGAAAATGGGCCGGGCGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTAAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTAAAACCTCATCTGTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCACAAGAATCGCTTGAACCGGGAGGTGGAGGTTGCACAGTGAGCTGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAACGGCCAGGTACGGTGGCTTAGGCCAGTAGTCCCAGCACTTTGGAGAGCCAAGGTGGAAGGGTCATTTGAGCCCAGGAGTTCAAGACCAGTCTGGGCCACCTAGCGAGACTCCTTCTCTACAAAAAGTAAAAAAAATAGCCAGGTGTAGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCCCAGGTGGGAGGATGGCTTGAGCCCGGGAGTTCAAGACTGCAGTGAGCTATGACCATGCCACTGCACTTTAGCCTGGGCAACAGAGCAAGACTGTGTCTCCAAAAAGAAAAGAAAATGGTGCTTTCCCTTCCTACTTATTACAGTAATTGACAGGAACAAAACAATCAAGGGTGGACCCAGAGGTGTACAGTGAGGGCGTGGGCATGTGTCCTCCTGGGACGAGGGAGATCTGCCAGCAGGGTGAGACACTGTGACAGAGGTCTTGGAGTCAGGACAGGTGAGGACGCCGTGCCTGCCTGCACCTCACAGAGGCCAAGCGGCCCTTCTGTTGGTACTTACTTGAGATTTTCTGAGCCCATCCAAACTTGTAGTGGACAAACAGGAAGTAAAATAAAAGGCCGCTTAATATAAACAGCACACAGTAGAGGTACTCCCAGGTGGGCTTGCTGATGATTGGAGCCAGAACCAAAAACAGAGATGAGTGTCATCAAGACGGGAATGACTACGGGCACCTGGAGACGAAAAACAGGTCATGGGTACCCATTTTCTTTTTGAAATTTTTCATGATAAAAAACCGATTTTTATAAAAAGAGTATGAACTCCATGTACCCCCTCCTCCAATTTCAATCATTTTAATGTAATTTTGCCAATCTTATTTCATCTATACCTTTTAAAAATTTTCTTTACTTTTTAAAAAGTTTTTTGGCCGGGCATGGGTGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCGAGGCCGGTGGGTCCCTTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATAGTGAAACACCATCTCTACCAAAAACACAAAAGTTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTCCTCAGGAGCTGAGGCAGGAGAGTCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCTAGCCTGGGCCACGGGAGGGAAACTCCATCTCAAAAAAGAAAAAAAAAAATAGATAAACTGTTTAATGTTTTAGCATCCACTGATGATCGTTGCCTTCATTGTTTCATCAGGGTTTGCAAAATGGTGATTTTTCTAATTTGTAATTTCTTCCTCAATTATCTGAAATGCTATATGAAGTACTTCAACTTTCTGGTTATTCTGAATTGCAGTTCATACAGGAAAGGCAGGATTAGTGCTGTATTCTGTGTGTTTCCAGAATGACAAGTTGGGCCCCTGAGACCTCCAAAGGCAACTCCAGCCTGTGGGTTTTTCTATACATGGTGAGTTTCAACCCGTTGTAGTCATTGTTCACGTTGTTCAGAAGGTCCTGTGCGGGGCGGCAGGAACCCCTCACACTGTCCTGGGCCCTGGGAATGGGACGCCAGTGCTCTTCAAAAGCCTCTTTGTTTTCTGGGTGACAAGAAGTGCCATACCTGGGTTTTCATTTATCTCTCCAGAGCCAGACGTGGGTTTTCATCCATTTCTCCAGAGAGCTTTGTTTCCTTTTAGCAGGAAATGGCATTTAAAGACCATAACCTGGAGGCTGGCTGCAGTGGTTCGCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCTAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCAGATGCCTGTAATCCCAGCAACTTGGGAAGCTGAAGCAGGAGAGTCGCTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCAAAGAATGTGCCACTGCACTCCAGCCCAGGAGACAGAGTGAGACTCTAAAAATAAATAAAGACCATAACCTGGGTGATTGGAGTACTCATTATCCTTTTTCAAGGACAGAGATTAATTTTGGTATTCTCTTATTAGGAACAAAGTTAAGTTTGCTGGGATTGTTTTGTTTTCATTTTTAAGTGTCATTGCATTTTTCCTTTGACTGTGTTTTTTTGTTTGTTTTGTTTCCCAAGACAGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAACAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCAACATGCCCAGCTAATTTTTTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCTGCCCATCTTGGCCTCCCAGAGCGCTGGGATTACAGGCATGAGCCAATCACACCCAGCCCCTGAATTAAACTTTTAATTAATGGATTTTCGGTCTTCAGCTACCTTTGCATAGGCTGGACCTAGTCATGATATATTATCTTTTTAGTGTAACTGGGTTCTGTTTGTTAACATTTTATTTTAGATTTTTTATATCGTTATTCCTAAGTGAGATTGGTGAGTACATTTCCCTTTTTTGTGTGAAGTTACCTTTGTAAGGTTTGGTGTCAATGTTACAGTCTAAAAATAATTTGAAAAANN
|
pathogenic
| 301,773 |
Variant in gene SLC7A9 (solute carrier family 7 member 9), located at chromosome 19 position 32833284: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Cystinuria']
|
GCAGTTGAATCTGTTGTAAAGGATAAAACATTGTGAATGTAATATAGACTTTTTGTTTTTGTGTTTTTTGAGATGGACTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGGGGGATCTTGGCTTACCGCAAGCTCCGCCTCCCGAGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCGTGTTAGCCACGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCGGCCCGATATAGACTTTTTTAAAGGTGTAATTCCGTCTCTTTTGATGTACTTTGACACAAGTGCTTTCTTTTCAGAAGCAAAAGTGGCTACTAACATAGCTAAACTTTTAAACAACTGTCCTAAAACTGATGAGGGTCAGGACTGCTGAAAGAGTGAGCCCTGTGCCCTTGGCATTAAAAGGCTTGGGCCCCAGCCCAGTTCCCCAGGCCAAGGCCATGACTTTTTGTGTGTCTTTGCAATGCTGCTAGGCCTCTTAGATGATGTCTGCATATCAGACAAAGGAGAATGGTGTTTCAGGATGAGACGCATGATGGTGGGAATATGCCTAATGCTACTGAACTTTACACTGACAAGTGGCTGAGATAGAAACGTTTATGTTGTGTGTCTTTCGCAATTAAAAAGAAAATGGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCTACATTTCGGGAGACTGATGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGACTCTACTAAAAATACAAAACAACAACAAGGAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACGTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCAGTGCATTCCAGCCTGGACAACAAGAGCAAAACTCCATCTCAAAACAAAGAAAATGGGCCGGGCGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTAAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTAAAACCTCATCTGTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCACAAGAATCGCTTGAACCGGGAGGTGGAGGTTGCACAGTGAGCTGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAACGGCCAGGTACGGTGGCTTAGGCCAGTAGTCCCAGCACTTTGGAGAGCCAAGGTGGAAGGGTCATTTGAGCCCAGGAGTTCAAGACCAGTCTGGGCCACCTAGCGAGACTCCTTCTCTACAAAAAGTAAAAAAAATAGCCAGGTGTAGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCCCAGGTGGGAGGATGGCTTGAGCCCGGGAGTTCAAGACTGCAGTGAGCTATGACCATGCCACTGCACTTTAGCCTGGGCAACAGAGCAAGACTGTGTCTCCAAAAAGAAAAGAAAATGGTGCTTTCCCTTCCTACTTATTACAGTAATTGACAGGAACAAAACAATCAAGGGTGGACCCAGAGGTGTACAGTGAGGGCGTGGGCATGTGTCCTCCTGGGACGAGGGAGATCTGCCAGCAGGGTGAGACACTGTGACAGAGGTCTTGGAGTCAGGACAGGTGAGGACGCCGTGCCTGCCTGCACCTCACAGAGGCCAAGCGGCCCTTCTGTTGGTACTTACTTGAGATTTTCTGAGCCCATCCAAACTTGTAGTGGACAAACAGGAAGTAAAATAAAAGGCCGCTTAATATAAACAGCACACAGTAGAGGTACTCCCAGGTGGGCTTGCTGATGATTGGAGCCAGAACCAAAAACACAGAGATGAGTGTCATCAAGACGGGAATGACTACGGGCACCTGGAGACGAAAAACAGGTCATGGGTACCCATTTTCTTTTTGAAATTTTTCATGATAAAAAACCGATTTTTATAAAAAGAGTATGAACTCCATGTACCCCCTCCTCCAATTTCAATCATTTTAATGTAATTTTGCCAATCTTATTTCATCTATACCTTTTAAAAATTTTCTTTACTTTTTAAAAAGTTTTTTGGCCGGGCATGGGTGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCGAGGCCGGTGGGTCCCTTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATAGTGAAACACCATCTCTACCAAAAACACAAAAGTTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTCCTCAGGAGCTGAGGCAGGAGAGTCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCTAGCCTGGGCCACGGGAGGGAAACTCCATCTCAAAAAAGAAAAAAAAAAATAGATAAACTGTTTAATGTTTTAGCATCCACTGATGATCGTTGCCTTCATTGTTTCATCAGGGTTTGCAAAATGGTGATTTTTCTAATTTGTAATTTCTTCCTCAATTATCTGAAATGCTATATGAAGTACTTCAACTTTCTGGTTATTCTGAATTGCAGTTCATACAGGAAAGGCAGGATTAGTGCTGTATTCTGTGTGTTTCCAGAATGACAAGTTGGGCCCCTGAGACCTCCAAAGGCAACTCCAGCCTGTGGGTTTTTCTATACATGGTGAGTTTCAACCCGTTGTAGTCATTGTTCACGTTGTTCAGAAGGTCCTGTGCGGGGCGGCAGGAACCCCTCACACTGTCCTGGGCCCTGGGAATGGGACGCCAGTGCTCTTCAAAAGCCTCTTTGTTTTCTGGGTGACAAGAAGTGCCATACCTGGGTTTTCATTTATCTCTCCAGAGCCAGACGTGGGTTTTCATCCATTTCTCCAGAGAGCTTTGTTTCCTTTTAGCAGGAAATGGCATTTAAAGACCATAACCTGGAGGCTGGCTGCAGTGGTTCGCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCTAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCAGATGCCTGTAATCCCAGCAACTTGGGAAGCTGAAGCAGGAGAGTCGCTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCAAAGAATGTGCCACTGCACTCCAGCCCAGGAGACAGAGTGAGACTCTAAAAATAAATAAAGACCATAACCTGGGTGATTGGAGTACTCATTATCCTTTTTCAAGGACAGAGATTAATTTTGGTATTCTCTTATTAGGAACAAAGTTAAGTTTGCTGGGATTGTTTTGTTTTCATTTTTAAGTGTCATTGCATTTTTCCTTTGACTGTGTTTTTTTGTTTGTTTTGTTTCCCAAGACAGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAACAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCAACATGCCCAGCTAATTTTTTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCTGCCCATCTTGGCCTCCCAGAGCGCTGGGATTACAGGCATGAGCCAATCACACCCAGCCCCTGAATTAAACTTTTAATTAATGGATTTTCGGTCTTCAGCTACCTTTGCATAGGCTGGACCTAGTCATGATATATTATCTTTTTAGTGTAACTGGGTTCTGTTTGTTAACATTTTATTTTAGATTTTTTATATCGTTATTCCTAAGTGAGATTGGTGAGTACATTTCCCTTTTTTGTGTGAAGTTACCTTTGTAAGGTTTGGTGTCAATGTTACAGTCTAAAAATAATTTGAAAAATCAA
|
GCAGTTGAATCTGTTGTAAAGGATAAAACATTGTGAATGTAATATAGACTTTTTGTTTTTGTGTTTTTTGAGATGGACTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGGGGGATCTTGGCTTACCGCAAGCTCCGCCTCCCGAGTTCACGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCGTGTTAGCCACGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCCCGGCCCGATATAGACTTTTTTAAAGGTGTAATTCCGTCTCTTTTGATGTACTTTGACACAAGTGCTTTCTTTTCAGAAGCAAAAGTGGCTACTAACATAGCTAAACTTTTAAACAACTGTCCTAAAACTGATGAGGGTCAGGACTGCTGAAAGAGTGAGCCCTGTGCCCTTGGCATTAAAAGGCTTGGGCCCCAGCCCAGTTCCCCAGGCCAAGGCCATGACTTTTTGTGTGTCTTTGCAATGCTGCTAGGCCTCTTAGATGATGTCTGCATATCAGACAAAGGAGAATGGTGTTTCAGGATGAGACGCATGATGGTGGGAATATGCCTAATGCTACTGAACTTTACACTGACAAGTGGCTGAGATAGAAACGTTTATGTTGTGTGTCTTTCGCAATTAAAAAGAAAATGGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCTACATTTCGGGAGACTGATGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGACTCTACTAAAAATACAAAACAACAACAAGGAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACGTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCAGTGCATTCCAGCCTGGACAACAAGAGCAAAACTCCATCTCAAAACAAAGAAAATGGGCCGGGCGCAGTGGCTGACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTAAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTAAAACCTCATCTGTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCACAAGAATCGCTTGAACCGGGAGGTGGAGGTTGCACAGTGAGCTGAGACCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAGAAAAACGGCCAGGTACGGTGGCTTAGGCCAGTAGTCCCAGCACTTTGGAGAGCCAAGGTGGAAGGGTCATTTGAGCCCAGGAGTTCAAGACCAGTCTGGGCCACCTAGCGAGACTCCTTCTCTACAAAAAGTAAAAAAAATAGCCAGGTGTAGTGTGTGCCTGTGGTCCCAGCTACTTGGGAGGCCCAGGTGGGAGGATGGCTTGAGCCCGGGAGTTCAAGACTGCAGTGAGCTATGACCATGCCACTGCACTTTAGCCTGGGCAACAGAGCAAGACTGTGTCTCCAAAAAGAAAAGAAAATGGTGCTTTCCCTTCCTACTTATTACAGTAATTGACAGGAACAAAACAATCAAGGGTGGACCCAGAGGTGTACAGTGAGGGCGTGGGCATGTGTCCTCCTGGGACGAGGGAGATCTGCCAGCAGGGTGAGACACTGTGACAGAGGTCTTGGAGTCAGGACAGGTGAGGACGCCGTGCCTGCCTGCACCTCACAGAGGCCAAGCGGCCCTTCTGTTGGTACTTACTTGAGATTTTCTGAGCCCATCCAAACTTGTAGTGGACAAACAGGAAGTAAAATAAAAGGCCGCTTAATATAAACAGCACACAGTAGAGGTACTCCCAGGTGGGCTTGCTGATGATTGGAGCCAGAACCAAAAACACAGATGAGTGTCATCAAGACGGGAATGACTACGGGCACCTGGAGACGAAAAACAGGTCATGGGTACCCATTTTCTTTTTGAAATTTTTCATGATAAAAAACCGATTTTTATAAAAAGAGTATGAACTCCATGTACCCCCTCCTCCAATTTCAATCATTTTAATGTAATTTTGCCAATCTTATTTCATCTATACCTTTTAAAAATTTTCTTTACTTTTTAAAAAGTTTTTTGGCCGGGCATGGGTGCTCACACCTGTAATCCCAGCACTTAGGGAGGCCGAGGCCGGTGGGTCCCTTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACATAGTGAAACACCATCTCTACCAAAAACACAAAAGTTAGCTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTCCTCAGGAGCTGAGGCAGGAGAGTCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCTAGCCTGGGCCACGGGAGGGAAACTCCATCTCAAAAAAGAAAAAAAAAAATAGATAAACTGTTTAATGTTTTAGCATCCACTGATGATCGTTGCCTTCATTGTTTCATCAGGGTTTGCAAAATGGTGATTTTTCTAATTTGTAATTTCTTCCTCAATTATCTGAAATGCTATATGAAGTACTTCAACTTTCTGGTTATTCTGAATTGCAGTTCATACAGGAAAGGCAGGATTAGTGCTGTATTCTGTGTGTTTCCAGAATGACAAGTTGGGCCCCTGAGACCTCCAAAGGCAACTCCAGCCTGTGGGTTTTTCTATACATGGTGAGTTTCAACCCGTTGTAGTCATTGTTCACGTTGTTCAGAAGGTCCTGTGCGGGGCGGCAGGAACCCCTCACACTGTCCTGGGCCCTGGGAATGGGACGCCAGTGCTCTTCAAAAGCCTCTTTGTTTTCTGGGTGACAAGAAGTGCCATACCTGGGTTTTCATTTATCTCTCCAGAGCCAGACGTGGGTTTTCATCCATTTCTCCAGAGAGCTTTGTTTCCTTTTAGCAGGAAATGGCATTTAAAGACCATAACCTGGAGGCTGGCTGCAGTGGTTCGCTCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGTCTAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCAGATGCCTGTAATCCCAGCAACTTGGGAAGCTGAAGCAGGAGAGTCGCTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCAAAGAATGTGCCACTGCACTCCAGCCCAGGAGACAGAGTGAGACTCTAAAAATAAATAAAGACCATAACCTGGGTGATTGGAGTACTCATTATCCTTTTTCAAGGACAGAGATTAATTTTGGTATTCTCTTATTAGGAACAAAGTTAAGTTTGCTGGGATTGTTTTGTTTTCATTTTTAAGTGTCATTGCATTTTTCCTTTGACTGTGTTTTTTTGTTTGTTTTGTTTCCCAAGACAGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAACAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGTGCCAACATGCCCAGCTAATTTTTTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCTGCCCATCTTGGCCTCCCAGAGCGCTGGGATTACAGGCATGAGCCAATCACACCCAGCCCCTGAATTAAACTTTTAATTAATGGATTTTCGGTCTTCAGCTACCTTTGCATAGGCTGGACCTAGTCATGATATATTATCTTTTTAGTGTAACTGGGTTCTGTTTGTTAACATTTTATTTTAGATTTTTTATATCGTTATTCCTAAGTGAGATTGGTGAGTACATTTCCCTTTTTTGTGTGAAGTTACCTTTGTAAGGTTTGGTGTCAATGTTACAGTCTAAAAATAATTTGAAAAATCAANN
|
pathogenic
| 301,774 |
Determine whether the variant at chromosome 19, position 32858459, in gene SLC7A9 (solute carrier family 7 member 9) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic
|
GTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAGTGAATTTTTAATGTTCTCAGCATAAAGAAGTATGTGAGGTGATACATATGCCATTCCACAATGTTTACATGTATTGAAACATCACACTGTACCACATACATATATGCAATTATTGTTGTTATTTTTTAGAGGCAGGGTCTTACTCTGTTACCCAGGCAGGAGTGCAGTGGTGTGATCGTGGCCCACTGCAGCCTGGAACTTCTGGGCTTCTGGAACTACAGGCATGGGCCTCTACACCCAGCTAATTTTTAAATTTCTTTTTGTAGAGACGGAGTCTCACCATGTGGCCCAGACTAGTCTCGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCCATATAAGCAATTATTATTTGTCAATTTAAAATAAGGCGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAGATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCAGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAAATTGCTTGAACTAGGGAGGCGGAGACTGCAGTGAGGCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAATAATATAAGGCTGGGCACGATAGCTCATGCCTGTAATTCCAGGGCTTTGGGAAGTGGAGGCAGGAGGATCACTTGAGCCAGGAGTTCGAAATGGGCCTGGGCAACATGGTGAAACCCCATCTTGACTAAGAATACAAAAGTTAGCTGGGTGTGATGGCACGTGCCTGTGGTCCCAGCTATTCCAGAGGCTGAGGAGGGAGGATTGCTTGAGCCCAGGAGGTAGAGGCTACAGTGAGCCAAGATCATGCCAGTGTGCTCCAGCCTGGGCGACAGAGTGAGACCTTGCCTCAAAATTAATTAGTTAATTAAAATTTAAATTTAAAATTTATAAAGAAATACAAAGGATCTAGCCAAAACGCTTTTGACAAAGAATGAAGTTGGAGGCCTAGCACTACATGTATTTCGGTTTGGCTTTAGAAGAATGATTTTATGGTATTTCATTTTTTAACATACACAGACTTTGTCAATTTCACTCTGAAATATATCCATTCAGAACACTGGACAACTAAGCCAAGACACGTGTTCGAGGATGTTCACTGCGGCAACGTTCATGGAAACCACCCACACCCAGGTGTGAGTGAAGGATTTGTTAAGTTATGCTACATCTGAAAGTGTGATACAACACAGCTGGTGGCAGTCTCTAGACCAGATGGGTCTAAAGGATTGGCAAACCACAGCTGTTTGGGCAAATAAAGTTTTATTGGAACATGACCATGGCTGTTCACTCTTGGGTACCAAGGCAGAGTTGAGAATCTGTGACAGAGGTTTATGCAGCCTGCGAGCCTGGAATATTTACCATCTGGCCCTTTAAGGGAAAGTTAGCCAATTCTGGGTTATTTATTAATTTGCTAATTAGCAAATTAGTTTGTATATATTAACATGGGGAAGATGTTCAGGAAATATCACTATGTGAAAAATATCACTAGGTGAAAAGGTAAAAAGTGCCACGTGGAAAACCAGTGCCTCATTCACGCGGTGTCGCTTCCCTTCGCCTCAGCATGGGCAGCTTCCCCCCCATGTTGGGAACTAGGGCCCCCTGGAGTGGAAAGGCTGAGATTCCAGGCAGCCTTGATCAATTCCCGTGTGCAGGCCCATCCATGCCTTCCTGGCCAGTTTGCGGTGTGGGTTCAAGCTACATCCCTTCTCTGGATTTGGGTCTCCTACTTGTACTGGCGTGGGTTTCGCCTGGCAGAACCCTGAGGATTTTAGCTGTGTGTCTTCCTCGGGGGTGATATTGCTTTCGCCGCCCCTGTCCACCCTGGGAGTGACGGTGGGGGTCCCCTACCTGCCCGCTGTGAAGCAGGTCCCGTTAGCAGCACCGATGGTTGAAAATGCCACAAAAAGTGGAACGATCCAAGAAGCAGGATAGAGAACACGGTCACCAAATGTCTGGTGAGAGAAGCGAGATGAGTCCTGAGGGTCTTTCTTGGCCTCCAAGAGCGGCCGGCCCCCAAAAGCTATTCTGGCCTCCCAGGGGACCCAGGGACCCACCTCGCCTCGGGGCACAGCCTCTGACTCCTCCACTGCAGAGGAGAGAGGAGAACGCCACTCGCCTATCTCCAGATATTGTGATGGCAAGAGAAGTCTCTTATCTACTACTCCCTGGCATAAATCTTTATTTATTTATTTATTTATTTATTTATTTATTTCTGAGATGGAGCTTTGCTCTTATTGCCCAGGCTGGAGTGCAATGTTGCTGTCTCGGCTCACTGCAACCTCTGCCTCCCAGGGTCAAGCGATGCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACATTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAGGCTGGTCTCAATCTCCTGACCTTGCGATCCACCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAAATCTTTATTTTTTAATTTGATTTTTTTTGGAGACAGGATCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGCGTGATCACGTCTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTTGCCTCAGTCTTCTAAGTAGCTGAGACCACAGGCACTCGCCACCACACCCAGCTGCGTAATTCTTGGTCATTTCAATATCCTGACACCTTCACCTCTCACTTCCCTGAACCCCCACTCCAACCGGAATGGCTGAATTCTCCCTCCCACCTCAGCAGCCCCCAGTCTTGTGGTCAGTGACCTCAACACTTATCCAAACTGCGTCTCCTCCACCTTCCAAATCCCCAACACGTGGTTGTCTGTTTGCAACTGCAGGAGGCCCCCAGCCACCTCTTCACTGACCCCAATGCCTCTCACCTCTCACCTTCTATGATTCATTATTATTTAGGGTGGTGCAAAAGTAATTGCCAGTTTTGCCAAAAATATATATATTTTTTAATATATAATGACCTAATATAATGACCTCCCCCGACTCCCTGGCACTTTCTGCCTCTGCTTCATGCTTGCCTGCCGAACCCTCACCCTGGCTAGCCCGGCCCTGCCTCCAGCTCCATGCCGTGCGTGCCCAGTCCATGTCCCCGTCCGTGAATATCGCCCTCCTTCCCTGGGAGGGAGCTCACCTCCAGTGCTGACACCTGCCTTACCCCTTCCCACAAGCCACAGCCCCCGCCAGCAGCGATGCCCGGGCACTCACCACAGCCACCGCCTGGGACTGCAGGAGTTCGGTGGCAGTCATCACGGTGAAGTAGGACACGTTCATGAGGATGTAGCACGCCGTCACCAGGGGGATCCCGATGATAATGGCCAAAGGCAGGTTTCTGGGAGGGGCAATGACACGGAGACCCACGTTCAGACCACAGCCTCCCGCGGAAGATGGACGCCCTCCCTGAGGCCCTCCCAGGGAGAAGATTCGCAGGTAGCAGAGGCCCAGCAGGAACATAAGACATTTTCAAATGAGAATGCTGCCTCTCTCAGACTCCAGAGCAGTTCACATGGAACTGTTTATAAAGCAAAATAAGCCAGAGATAAAGGAAGACCAAGCTCTTCCCTCCCTTAGGAGCCACTGCTCTGTCCCAAACCAAACCAAACTCTAAGCGTGCATAGTGAGCTCATAAGAAACCATTCGCTGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGAATCTCTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAATCTCATCTCTACTAAAAAAATACAAAAATGAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAA
|
GTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCAGTGAATTTTTAATGTTCTCAGCATAAAGAAGTATGTGAGGTGATACATATGCCATTCCACAATGTTTACATGTATTGAAACATCACACTGTACCACATACATATATGCAATTATTGTTGTTATTTTTTAGAGGCAGGGTCTTACTCTGTTACCCAGGCAGGAGTGCAGTGGTGTGATCGTGGCCCACTGCAGCCTGGAACTTCTGGGCTTCTGGAACTACAGGCATGGGCCTCTACACCCAGCTAATTTTTAAATTTCTTTTTGTAGAGACGGAGTCTCACCATGTGGCCCAGACTAGTCTCGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCCATATAAGCAATTATTATTTGTCAATTTAAAATAAGGCGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCTTGGCCAAGATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCAGGTGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGAAAATTGCTTGAACTAGGGAGGCGGAGACTGCAGTGAGGCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAATAATATAAGGCTGGGCACGATAGCTCATGCCTGTAATTCCAGGGCTTTGGGAAGTGGAGGCAGGAGGATCACTTGAGCCAGGAGTTCGAAATGGGCCTGGGCAACATGGTGAAACCCCATCTTGACTAAGAATACAAAAGTTAGCTGGGTGTGATGGCACGTGCCTGTGGTCCCAGCTATTCCAGAGGCTGAGGAGGGAGGATTGCTTGAGCCCAGGAGGTAGAGGCTACAGTGAGCCAAGATCATGCCAGTGTGCTCCAGCCTGGGCGACAGAGTGAGACCTTGCCTCAAAATTAATTAGTTAATTAAAATTTAAATTTAAAATTTATAAAGAAATACAAAGGATCTAGCCAAAACGCTTTTGACAAAGAATGAAGTTGGAGGCCTAGCACTACATGTATTTCGGTTTGGCTTTAGAAGAATGATTTTATGGTATTTCATTTTTTAACATACACAGACTTTGTCAATTTCACTCTGAAATATATCCATTCAGAACACTGGACAACTAAGCCAAGACACGTGTTCGAGGATGTTCACTGCGGCAACGTTCATGGAAACCACCCACACCCAGGTGTGAGTGAAGGATTTGTTAAGTTATGCTACATCTGAAAGTGTGATACAACACAGCTGGTGGCAGTCTCTAGACCAGATGGGTCTAAAGGATTGGCAAACCACAGCTGTTTGGGCAAATAAAGTTTTATTGGAACATGACCATGGCTGTTCACTCTTGGGTACCAAGGCAGAGTTGAGAATCTGTGACAGAGGTTTATGCAGCCTGCGAGCCTGGAATATTTACCATCTGGCCCTTTAAGGGAAAGTTAGCCAATTCTGGGTTATTTATTAATTTGCTAATTAGCAAATTAGTTTGTATATATTAACATGGGGAAGATGTTCAGGAAATATCACTATGTGAAAAATATCACTAGGTGAAAAGGTAAAAAGTGCCACGTGGAAAACCAGTGCCTCATTCACGCGGTGTCGCTTCCCTTCGCCTCAGCATGGGCAGCTTCCCCCCCATGTTGGGAACTAGGGCCCCCTGGAGTGGAAAGGCTGAGATTCCAGGCAGCCTTGATCAATTCCCGTGTGCAGGCCCATCCATGCCTTCCTGGCCAGTTTGCGGTGTGGGTTCAAGCTACATCCCTTCTCTGGATTTGGGTCTCCTACTTGTACTGGCGTGGGTTTCGCCTGGCAGAACCCTGAGGATTTTAGCTGTGTGTCTTCCTCGGGGGTGATATTGCTTTCGCCGCCCCTGTCCACCCTGGGAGTGACGGTGGGGGTCCCCTACCTGCCCGCTGTGAAGCAGGTCCCCCGTTAGCAGCACCGATGGTTGAAAATGCCACAAAAAGTGGAACGATCCAAGAAGCAGGATAGAGAACACGGTCACCAAATGTCTGGTGAGAGAAGCGAGATGAGTCCTGAGGGTCTTTCTTGGCCTCCAAGAGCGGCCGGCCCCCAAAAGCTATTCTGGCCTCCCAGGGGACCCAGGGACCCACCTCGCCTCGGGGCACAGCCTCTGACTCCTCCACTGCAGAGGAGAGAGGAGAACGCCACTCGCCTATCTCCAGATATTGTGATGGCAAGAGAAGTCTCTTATCTACTACTCCCTGGCATAAATCTTTATTTATTTATTTATTTATTTATTTATTTATTTCTGAGATGGAGCTTTGCTCTTATTGCCCAGGCTGGAGTGCAATGTTGCTGTCTCGGCTCACTGCAACCTCTGCCTCCCAGGGTCAAGCGATGCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACATTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCACGTTGGCCAGGCTGGTCTCAATCTCCTGACCTTGCGATCCACCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCAAATCTTTATTTTTTAATTTGATTTTTTTTGGAGACAGGATCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGCGTGATCACGTCTCACTGTAGCCTCAATCTCCTGGGCTCAAGTGATCCTTGCCTCAGTCTTCTAAGTAGCTGAGACCACAGGCACTCGCCACCACACCCAGCTGCGTAATTCTTGGTCATTTCAATATCCTGACACCTTCACCTCTCACTTCCCTGAACCCCCACTCCAACCGGAATGGCTGAATTCTCCCTCCCACCTCAGCAGCCCCCAGTCTTGTGGTCAGTGACCTCAACACTTATCCAAACTGCGTCTCCTCCACCTTCCAAATCCCCAACACGTGGTTGTCTGTTTGCAACTGCAGGAGGCCCCCAGCCACCTCTTCACTGACCCCAATGCCTCTCACCTCTCACCTTCTATGATTCATTATTATTTAGGGTGGTGCAAAAGTAATTGCCAGTTTTGCCAAAAATATATATATTTTTTAATATATAATGACCTAATATAATGACCTCCCCCGACTCCCTGGCACTTTCTGCCTCTGCTTCATGCTTGCCTGCCGAACCCTCACCCTGGCTAGCCCGGCCCTGCCTCCAGCTCCATGCCGTGCGTGCCCAGTCCATGTCCCCGTCCGTGAATATCGCCCTCCTTCCCTGGGAGGGAGCTCACCTCCAGTGCTGACACCTGCCTTACCCCTTCCCACAAGCCACAGCCCCCGCCAGCAGCGATGCCCGGGCACTCACCACAGCCACCGCCTGGGACTGCAGGAGTTCGGTGGCAGTCATCACGGTGAAGTAGGACACGTTCATGAGGATGTAGCACGCCGTCACCAGGGGGATCCCGATGATAATGGCCAAAGGCAGGTTTCTGGGAGGGGCAATGACACGGAGACCCACGTTCAGACCACAGCCTCCCGCGGAAGATGGACGCCCTCCCTGAGGCCCTCCCAGGGAGAAGATTCGCAGGTAGCAGAGGCCCAGCAGGAACATAAGACATTTTCAAATGAGAATGCTGCCTCTCTCAGACTCCAGAGCAGTTCACATGGAACTGTTTATAAAGCAAAATAAGCCAGAGATAAAGGAAGACCAAGCTCTTCCCTCCCTTAGGAGCCACTGCTCTGTCCCAAACCAAACCAAACTCTAAGCGTGCATAGTGAGCTCATAAGAAACCATTCGCTGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGAATCTCTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAATCTCATCTCTACTAAAAAAATACAAAAATGAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGG
|
pathogenic
| 301,785 |
Is the chromosome 19, position 32862207 variant in SLC7A9 (solute carrier family 7 member 9) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Cystinuria', 'SLC7A9-related_disorder']
|
AAATAAGCCAGAGATAAAGGAAGACCAAGCTCTTCCCTCCCTTAGGAGCCACTGCTCTGTCCCAAACCAAACCAAACTCTAAGCGTGCATAGTGAGCTCATAAGAAACCATTCGCTGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGAATCTCTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAATCTCATCTCTACTAAAAAAATACAAAAATGAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGGCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGGCCCTACCCAGACCTACACATCTGTCAGCTGGTTGAGCCTTTGCCCTCCTCGGGAATCACACGGATTTTCAAGAATAATCAGGAGTAGTGAGTCCCCAGGGTGCTTTGAAAAAATGGAATATTCTTTGTCTGAAAAGGGAATTAAATCTATAAATGCTTTGCAGGAGAGAAGGACCATCGTTGCAGATGGCCATGCTTCTTCCTTAAAGGACAAAAATGGGCCAGGCATAGTGGCGCACGTCTGTAATCCCAGCACTTTGAGAAGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCCTGCATGGTGGCAGGTGCCTGTAATCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGGGATTCAAGCAATTGCAGTGAGCCGAGATCTCACCACAGCACTCCAGCCTGGGTAATAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAGGACAAAAACAGAATCTCATCCACTAAACTCGATAAATATATAAAATTTATATGGTATTATTTATTTTTGTAGGGCAGTCCCCCAAACCATAATAGATTCAGAGAGGCTCCCAAACCTAATGATTTTCAAGGTTAAATAGAAGTGCTATTGAGTATTCTTTGTTTAATCAAGAGCTTGGGGCTGGGCGCAGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGAGAGAGAATTGCTTGAGTGTAGGAGTTTGAGAGCAGCTTGGGCAACACAGAGAGACTGTCTCTACAAAGCATAAAAATAAAAAATTATCAGGGCATGGCAGCTCCTATCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAAGCTGACTTGAGCCCAGGAGCTCAAGGCTGCAGTGAGCTATGATCACGCCATTGCACTCCAGCCTGGGTGACCAAGTGAGATCCTGTCTTAAAAAAACAAAACAAAACAAAACAGAAAACCTGAGCTTGGGCCCTGGCTGCCTCTGATTTGGCTGAGCCTGTGTTGGCCCAGTGAGGGTTCTACACAGAGCACTCTGGCTGACTGAGCAGGTGTCTCAGGGAATAAAGGGGAGAGGTTGTCGCATCCTTCACAAAAAGGAAATGTGAGGGTGAATGTCAGAGTCACACCAAACCCCAGAAAGGAGAACTCATTGTTTTCCATGACAGGTGGAGTTAAAGTCACCTGGAGAACCCCACCCACCCCCAGACTCGGGACATCTCAGGACACCTCACCATCCATCATAGGCCCAGAGTCCATTGTAAAACGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCCGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCACGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGA
|
AAATAAGCCAGAGATAAAGGAAGACCAAGCTCTTCCCTCCCTTAGGAGCCACTGCTCTGTCCCAAACCAAACCAAACTCTAAGCGTGCATAGTGAGCTCATAAGAAACCATTCGCTGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGAATCTCTTGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAATCTCATCTCTACTAAAAAAATACAAAAATGAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGAAATAATTCACTGTCGGGAAGGGCATCATGGAATACCCAGGGAAATAGCTCCAGCCTTCACCAGGAGAAGAGAAATCAGGCTGCCCGGCTACTGTCCTCTGCACTGATTCAGCTGTTACCTGTAAGGGTTTCTAAGTTCTTCTGTGATGTAATTGAGTTGATTCCTGGAAAAAGGAAAGTAACAAGCGTCACACACCTTGACTTTCTTTTTCGATAATGAAACCCACAATAATAAATGTTGGCCTCATTTAAGATTCTCTACCAGAGAAAAAAATTCTCCTGCAGGAATTCCAGGTGAATTTTTTTCCAGGTGAATGGCCCTGCTAGTGGTGGGGCCTGGGGCCCTACCCAGACCTACACATCTGTCAGCTGGTTGAGCCTTTGCCCTCCTCGGGAATCACACGGATTTTCAAGAATAATCAGGAGTAGTGAGTCCCCAGGGTGCTTTGAAAAAATGGAATATTCTTTGTCTGAAAAGGGAATTAAATCTATAAATGCTTTGCAGGAGAGAAGGACCATCGTTGCAGATGGCCATGCTTCTTCCTTAAAGGACAAAAATGGGCCAGGCATAGTGGCGCACGTCTGTAATCCCAGCACTTTGAGAAGCCGAGGTGGGCAGATCACTTGAAGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCCTGCATGGTGGCAGGTGCCTGTAATCCCAGCTAGTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGGGATTCAAGCAATTGCAGTGAGCCGAGATCTCACCACAGCACTCCAGCCTGGGTAATAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAGGACAAAAACAGAATCTCATCCACTAAACTCGATAAATATATAAAATTTATATGGTATTATTTATTTTTGTAGGGCAGTCCCCCAAACCATAATAGATTCAGAGAGGCTCCCAAACCTAATGATTTTCAAGGTTAAATAGAAGTGCTATTGAGTATTCTTTGTTTAATCAAGAGCTTGGGGCTGGGCGCAGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGAGAGAGAATTGCTTGAGTGTAGGAGTTTGAGAGCAGCTTGGGCAACACAGAGAGACTGTCTCTACAAAGCATAAAAATAAAAAATTATCAGGGCATGGCAGCTCCTATCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAAGCTGACTTGAGCCCAGGAGCTCAAGGCTGCAGTGAGCTATGATCACGCCATTGCACTCCAGCCTGGGTGACCAAGTGAGATCCTGTCTTAAAAAAACAAAACAAAACAAAACAGAAAACCTGAGCTTGGGCCCTGGCTGCCTCTGATTTGGCTGAGCCTGTGTTGGCCCAGTGAGGGTTCTACACAGAGCACTCTGGCTGACTGAGCAGGTGTCTCAGGGAATAAAGGGGAGAGGTTGTCGCATCCTTCACAAAAAGGAAATGTGAGGGTGAATGTCAGAGTCACACCAAACCCCAGAAAGGAGAACTCATTGTTTTCCATGACAGGTGGAGTTAAAGTCACCTGGAGAACCCCACCCACCCCCAGACTCGGGACATCTCAGGACACCTCACCATCCATCATAGGCCCAGAGTCCATTGTAAAACGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCCGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCACGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGG
|
pathogenic
| 301,797 |
Variant in SLC7A9 (solute carrier family 7 member 9), chromosome 19, position 32864161—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Cystinuria']
|
CTCACCATCCATCATAGGCCCAGAGTCCATTGTAAAACGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCCGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCACGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGAAACGAAGATCCCAGAGCCAATGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACC
|
CTCACCATCCATCATAGGCCCAGAGTCCATTGTAAAACGCCAGGCTGATGGCTCCCACAGACAGCTGGGCGCCCTCGAAAGAATTATCAAAATTCTTTGTGTTTCCTGTAATGAAGCCAGACAGTGAACGGCGGGTGTCAACCGGGCAGATCTTGAGTGTATCTCCACGGGAAAGATGGGCATGATTGTGACCCCAGCTTAATAAACACGCCCTGAAACTAAGGATCCCTCCCACCGAGTTCCTGCCATGCTTCCTTGGAGATGGGCTCGTGGGGCAAGGCTGCTCCTGCTCCCAGTGGAAGGGCGTTTGGTGTGTGCCCGTGCAGGGCCCACCCTCCCGTGGGTCACCTTGGGCCAGGAGCACCAGCCCGCTGATGATGATGATGGCCACGATCACCAGCTTGGCCGCGGTGAAGATGTTCTGGACGTAGCTTCCCAGCCGCACGCTCAGTGAGTTCACTGTCGAGATGAACACTGGAAGGGTGGGGACAGTTTCTGCATTTATGGTTTTCAGCAAAGCCCTGGAGAGAGTCTCCTTTCTTTTATATATTTTTTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATCTCAGCTCACGATCTCAGCAATCTTTGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACGACAGGTGCACGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGCTTGTCTGGAGGTTCTAGCGGGGGAGCGCAGCTACTCATATACCCTTGACCGAAGACCAGCCCTCCTCTATCGGGGATGGTCATCCTTTTCCACCGAGTGCGCAGCTTCGGGAGGGATGCACGTGGAGCAGTGAGGGAGGAAGAGGACACTGGCCTAGCCAGCCAGATCACCTGAATCAACCCTGGCGATCAGTGGGGTGACAGATGTCCCTGCCAGATCGCCCTCATATCCAATTTTTGTAATTTTATTTTTATCTATTTATTTATTTGAGATGGAGTCTCACTCTGTCGTCCAGGCTGGAGTGCAATGGCACAGTCTCAGCTAAATGCAACCTCCACCTCCCGGGTTCAAGGAATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGATTACAGGCATGCACTACCCCACCACCCCCCTCCCCCGCCCTGCTAATTTTTGTATTTTAGTAGAAACAGGGTTTTGCCACGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCATGTAATCCCTCCACCTTGGTCTCCCAAAGTGCTAGGATTACAGGTGTGGGCCACTGCACCTAGCCTCTTTTATTTTTTGAGATAGGGTCCAAGGCTCAAGTGATCCCCCCTCCTCAGCCTCCCACGTAGCTGGGACGCCAGGTGCATGCCACCATACCCGGCTAATGTTTTGATTGTTTGTAGAGTCAAGGTTCTCACTGTGTTGACCAGGCTGATCTCAAACTCTTGGCCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTGGTGAGATTCCAAGCATGAGCCACTGCCTGCGGCCCACCCCTACTCCCCCACCAGCCACCATATCATCTCCCAAATTCCAAGAGGGCAGATCCAAACATGGGAGTTTAAGGACCTTTTAAAAGAACCTGGAGATGACCTTAGCCGGGCTGCCTCAGATGGCGAAAAATTATCAGGGCGTGGTAAGCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCAGGAGAAGCTGGGCCCTGAGCCAAGGCTCTGCCCTGCAGGACAGCCAGCGGCACCCCTCCCTGCAGCCCCCACGGGCCTGGGGGTCCCCAGTGTGCAGCACCCACAGGTACTGCAAAGGCTGATGCCAGGCCCTGCCTGGGCTCTCACCAGAGACTCACTGGGGAGGAGCTGAGGGCGGAGTCCCCAGACACCCTCTGTGCCAGGTCTTTTCTGACCCCTGCCCTGGGCTCAGGTACTCACAGATGGCGGCGGCGGCCAGGCATTTCACAACGATTTGAGGAGGCTTGCAGCCCACATAGAAGGGCGCACACATACTCGGAGAAGCTGAGGCAGATGATGGCGAAGGACGTGGGCTTAATGACGATCAGGCTGGCCCAGGAGAAGAGGTAGGCGGGGATGGGCCCGTAGGCCTCCATCAGGTAGGGATACTCTCCCCCTGACTTGGTGATCATTGTGCCAAGCTCCGCAAAGCACAGGGCACCTGGAACACAGAGAGGAAGGGCCCACAGGCCCCTTGTGAGGCACTGCCCCGGCCCCAGGGAGCCTTCCTCCCACCGGAGGCTGCGCTCGTATGGAGGGGCCCACCGTGGTCCGCCCTCGCTGGACGGCCCTGAGCTCCAGCGTTGGACATTCAGTCCAGCCTGATTTACACCTGTTTGCCATACATGTGCCAAGAGGGATACTGGCAGGGTGAGGGCTGGCACAGGTAGCAGCTGCCTGGCGTGCCCCTGCATGCTTCCGGGGCTGCAACAGGCTCCCAAGTCTCTTTACCCAGCGTCGCGAGGACCCCGCAAGCCGCCCATATGATGAGGCAGGGCCCCACAGCTTCCGTGTTGCTGAGCACAGACTTGGGGGAAACGAAGATCCCAGAGCCAATGATGGTGCCCACGATGATGGAGATGCCACTGATGAGGCCCAGCTGGGTGTGGAGGAAGGAAGAGGGCGTTAGTGCCACGCCCGGACCCAGCCCAGAAGGCCAGGTGCCACCCTCCCTCGGTACGGCCAGGGCGGCCCCAGCCAAAGCCCATGTCCCAGGCGCTTCCACCCTGAGCGGCTGCCCTGGCAACACCGGGGCACCGCTCCCGGAGCTTTGCTTATGTTAACGTGATTAATTATCGTGACAGCCCCGCGAGCTGGCCACACTGTGTCACCCCCATGGACAGAGGAGGACGCTGAGGCACAGAAAGATTAGGAGGCTGTCCGGGGTTTACAGCTAGAGAGGGGGAAACCTGGCTCAGGTTCCACGTGCCTAACCGTGATCCTGTGCCCTCAATGAAAAGGCTGACTTGGCAACAGCTCACCAATAAGAAAGGCCCTCGGGATACGCCTCTGAGCCTAGAGTCCTGGCCAGAGGCTCCATGCAGGGTGAGCAACGGAGGCCTCCCAGAAACAGAAACATTTGGGCACTCTGAACTTTCTGTGGTGCCATTTTCTTTTATCTTATTTTTATTTACTTATTTATTTAGAGTCAGATCTCTCTCTGTCACCCAGGCTGGAGCACAGAGGTGAGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAACAATCCTCCCAACTCAGCCTCCCAAAGTGCTGGGATTGCAGGCGTAAGCCGCCGTGCCTGGCCCAGTGCCATTTGCTAGGATGGGAGCTTTCTGAGAACAGAACCCAGCTCAAAGAGACACCAGATGGTTCCATGCCTGTGAAGTTCAAGAACAGGTGAAACTAATCCACAGCCACAGGAATTCAGGGCTGGGGCCCTGCCTAGAAAGGGGCACGAGGGAGCTTTCTGGGGTGGTACATCTGTCAAAACTCACCAAACTCAGCACTAAAGAGCTGTACATTTCGACCAGGTGCAGTGGTTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTTGGGAGTGGGAGACCAGCCTGGCCAGCATGGAGAAACCCCGTTTCTACTAAAAAATACAAAAATCAGCCAGGCATTTTGGTGCACACCTGTTCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCATGAGGCAGAGGTTGCAGTGAGCCACTACAATCACTCCAGCCTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACCTGCACATTACACTGTATGTAAATTACACACCAATCAAGGAGGAAAAAAAAGTCCAACTCAAGCCCTACTCATAACACTCGTCCTCAGAAGCAGCCCCGGCCAGATCTCCAGAGCCTGAAGTTTCCAGCACCCATGTTCACCTGTCTGGGAAGAAGCTGGGCTTGGAGTCAGATCGCAGGGGATGAGGGGCTCCCAGCTGCAGGCTGCCACCCTGAGGACTCTGCACACACCNN
|
pathogenic
| 301,807 |
Located at chromosome 19 position 33301825, the variant affecting gene CEBPA (CCAAT enhancer binding protein alpha)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
AAGTCACCCCCTTAGGGTAAGAGGGGCTCAGGATGGATGGAGAGCTCATGAAAGTCAGGATTGCCGCCAGGGAAAATGCTGTATTATTTACAAATGTGACCTGGCCCACAGACAACCTTGGAAGTAGCTTCTTTCTGGTTTTAAAAAGACACCGACATTGACTTTGATATGTTTATATTATAGATATAATACATAAAACATCTAGAGTGAGACTCTACGTTCTCCCCAAAAGAAGAGAACCAAGCCGTCCTTCCCTGCTCCCAGCCCCAGTGATGCGTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTG
|
AAGTCACCCCCTTAGGGTAAGAGGGGCTCAGGATGGATGGAGAGCTCATGAAAGTCAGGATTGCCGCCAGGGAAAATGCTGTATTATTTACAAATGTGACCTGGCCCACAGACAACCTTGGAAGTAGCTTCTTTCTGGTTTTAAAAAGACACCGACATTGACTTTGATATGTTTATATTATAGATATAATACATAAAACATCTAGAGTGAGACTCTACGTTCTCCCCAAAAGAAGAGAACCAAGCCGTCCTTCCCTGCTCCCAGCCCCAGTGATGCGTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGA
|
benign
| 301,905 |
Mutation found at chromosome 19 position 33302075, gene CEBPA (CCAAT enhancer binding protein alpha): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Acute_myeloid_leukemia']
|
TTCCCTGCTCCCAGCCCCAGTGATGCGTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCC
|
TTCCCTGCTCCCAGCCCCAGTGATGCGTTGGCGGGAGGCCACCTCCCTTCCCGACCAGGAGCCAGGGCCTCTGGGGGACAAGCCTTGTGGGCAGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCCNNNNNNNN
|
pathogenic
| 301,933 |
Located at chromosome 19 position 33302167, the variant affecting gene CEBPA (CCAAT enhancer binding protein alpha)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Acute_myeloid_leukemia']
|
AGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCCCAACTGCTTCGTTTTCGGTCCAGAGCTCATAAACAAGATATTTTTAGCTTGACGCTTTTGGACGGGAGGGAGTAAAAACCAGATACGTTAAA
|
AGCCCAGGCCGGAGGGGCTGGGGAAAGCTGAGGGCAAAGGAGAACCCCCCTCACCTCATTGGTCCCCCAGGATCAAAAGTAATCCCAAAACCAAAAGGAAAGGGAGTCTCAGACCCTTCCCCCAGCTGCCGACGGAGAGTCTCATTTTGGCAAGTATCCGAGCAAAACCAAAACAAAACAAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCCCAACTGCTTCGTTTTCGGTCCAGAGCTCATAAACAAGATATTTTTAGCTTGACGCTTTTGGACGGGAGGGAGTAAAAACCAGATACGTTAAAN
|
pathogenic
| 301,946 |
Is the genetic variant on chromosome 19, position 33302346, gene CEBPA (CCAAT enhancer binding protein alpha), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Acute_myeloid_leukemia']
|
AAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCCCAACTGCTTCGTTTTCGGTCCAGAGCTCATAAACAAGATATTTTTAGCTTGACGCTTTTGGACGGGAGGGAGTAAAAACCAGATACGTTAAATAAATATCCCGATGTGAGCCGGAGAGCTGCTTGCTGAGCCAAATGCAGGACCCATTCATATAGCATTCACCTGTGGAGGGAGACCTGGACGGAAATCAAAAAGCACCAAGAGCGATTTGCGTTTTTTTCTGCGGTGCTAAAACTAATGGCTTTTCCTACCTAGGAACAAAGAAACGCCA
|
AAAAACCAAATAAAATGGTGGTTTAGCAGAGACGCGCACATTCACATTGCACAAGGCACTGCTGGGGCACAGAGGCCAGATACAAGTGTTGATATCGGCTGATAAAGCAAAATATTTGGAAAGCTTGTCATAACTCCGGTCCCTCTGGGATGGACTGATCGTGCTTCGTGTTCCTAGGCAATGCTGAAGGCATACAGTACAAACAAGGCTGAGGGTCCCAGTGGCCCTTCACCCCCCATGCCCGCCCCACAGCCAGATCTCTAGGTCTCCCTCTCCCACCAGGGGTATACATCCTCAGAGCTGACCCACGACCTAGCTTTCTGGTGTGACTCGGGGTGGGGGCTCCCACTGGTCACCTGGTGACCCCCATCGCAGTGAGTTCCGCCCCAAGGGGAAGCCCAGCCTATAGCAGGCTGGGGTGGGGTGTGTGCGGAGGGAGGTGGGAGAGGCGTGGAACTAGAGACCCTCCACCTTCATGTAGAACTAGGGGAACAACCTTAGGTTCCAAGCCCCAAGTCCCTATGTTTCCACCCCTTTCTAAGGACAGGCGTGGAGGAGCGGCTGGGGCTGGCGGGCTTGTCGGGATCTCAGCTCCCTGAGCCCTCCTCCTGCCACGGGCCTGCTCCCCTCCTTCTCTCATGGGGGTCTGCTGTAGCCTCGGGAAGGAGGCAGGAAACCTCCAAATAAAATGACAAGGCACGATTTGCTCCCCCTACTCAGTAGGCATTGGAGCGGTGAGTTTGCATTTCCAAGGCACAAGGTTATCCTAAATACTAGAGTTGCCGGGCTCCCAGCTCAGCCCCAAGAATTCTCCCCTCCTCGCAGGGAGAAGCCACCGCCTGGCCCCCTCATCTTAGACGCACCAAGTCCGGCGCAGAGGAAGGGAGGGGACACGCGGAGCAGGCCAGGCTTTCAGGAGGCACCGGAATCTCCTAGTCCTGGCTCGCACGGCTCGGGCAAGCCTCGAGATCCGGCGACCCCAAACCACTCCCTGGGTCCCCGCCGGAGGCTGGCCCAGGGCGGTCCCACAGCCGCGCGCCTCACGCGCAGTTGCCCATGGCCTTGACCAAGGAGCTCTCTGGCAGCTGGCGGAAGATGCCCCGCAGCGTGTCCAGTTCGCGGCTCAGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTGCGTCTCCACGTTGCGCTGCTTGGCCTTGTCGCGGCTCTTGCGCACCGCGATGTTGTTGCGCTCGCGCCGCACCCGGTACTCGTTGCTGTTCTTGTCCACCGACTTCTTGGCCTTGCCCGCGCCGCTGCCGCCACTCGCGCGGAGGTCGGGGTGCGCGGCGCCCAGCCCCTTGAGCGCGCTGCCAGGGCCCGGCAGGCCGGCGGCACCGAGCGCGGGCGCGGGGTGCGGGCTGGGCACGGGCGTGGGCGGCGGCGTGGGGTGACCGGGCTGCAGGTGCATGGTGGTCTGGCCGCAGTGCGCGATCTGGAACTGCAGGTGCGGGGCGGCCAGGTGCGCGGGCGGCGGGTGCGGGTGCGGGTGCGAGGGCGGCGGCGGCGGCGGCGGCTGGTAAGGGAAGAGGCCGGCCAGCGCCAGCTGCTTGGCTTCATCCTCCTCGCGGGGCTCCTGCTTGATCACCAGCGGCCGCAGCGCCGGCGCCCCGACGCGCTCGTACAGGGGCTCCAGCCTGCCGTCCAGGTAGCCGGCGGCCGCGCAGCCGTAGCCGGGCGGGGGCCCGTGCGCTCCCCCGGGCATGACGGCGCCGCCGGGGCCCGCGGGCGCGCCCGGGTAGTCAAAGTCGCCGCCGCCGCCGCCGCCCGTGGGGCCCACGGCCGCCTTGGCCTTCTCCTGCTGCCGGCTGTGCTGGAACAGGTCGGCCAGGAACTCGTCGTTGAAGGCGGCCGGGTCGATGTAGGCGCTGATGTCGATGGACGTCTCGTGCTCGCAGATGCCGCCCAGCGGCTCCGGGGCGGCAGGTGGGGCGGGAGGCTGCGCGGGGCCCGCGCCCCGGGGAAAGCCGAAGGCGGCGCTGCTGGGCGCGTGCGGGGGGGCTCTGCAGGTGGCTGCTCATCGGGGGCCGCGGCTCCGCCTCGTAGAAGTCGGCCGACTCCATGGGGGAGTTAGAGTTCTCCCGGCATGGCGAGCCTCGGCGGCCTCCAGCCTGCGCGGGGCGTCGCCGCCGCCCACCCGGAGACCCTGCTCGCCCGCGCCCGCGCACCTCCGGGTCGCGAATGGCCCGGCCCGCGCCGGCCCAGCTTTTATACCCGGCAGGCCGCGTCGCCCCCTAGAGTCCGAGGCGGCCTCTGTCCCCGGGCTGCGGCGGCGCGGCGCCTGCTGGGTCCTAGCGCGCGGCCGGCATGGGGCGGCGAACCAGCGCGGCACAGCGCCGCGCTCCCCAGGCAGGCCGCGGCGCAACGCCCACCGCCTCCAGCGCGCCCAGCAGAGCCGCGGCGCTCGCTCCAAGCTCCGCCCCCGGCCCGGCCGTCGCCCCCGCGCCCACGTGGTCGGTAGCGGGGGCCCCCTCCTCCTGCCTGCCCTAGGCGCCCGTATCCAGCCACGGCCGGGAGCCCAGGAGTATCCCGAGGCTGCACGGGGTAGGGGTGGGGGGCGGAGGGCGAGTCTTGGTCTTGAGCTGCTGGGGCGCGGATTCTCTTTCAAAGCCAGAACCAGGCCTGTCCCGGACCCGCGTCCCGGGGAGGCTGCAGCGCAGAGCAGCGGGGCTGGGGCCGGTGGGGGGCCGTTTGGGACGCGCGGAGAGGTCCTGAGCGCGGTGGCTCTGCGTCTCCTAGCTCTGATCTCCAGGCTACCCCTGTGATTCCGCGCAGAGGTACCTCTCGGAGGACGCCGGGGTCCCATGGGCGGCGCCGCGCAGGGCGCTAGGACCCCGCGGGGAGCGGAGGCGGCCTCGGCCCGGGAGCCTGGAGGACCTGGCCGGTCGATCCGCCCGGGCTGGAAAACTTTCTTTATAATTACTTCTCCAGGTCGGAGCGCGCGGCTTGCTAGGCGCGCGGGGCCGGCGCTGTTACCCGGCGTGGAGTCGCCGATTTTTTTTCCTGCGGGACCGCGGGGCCCCCCAGACTAGCGGAGCTGGACGCCGGGGCGAGCACGGGGAGGGGCGCACCGAGGGAGGAGACAAACTTAACTCTGGGGCCGGGATTCCGAGGCGGGGGCCGCAGCCCTCGAGGCCCGAAGCCACCGCTTCCTCCCCCGCCTCCCCATTCAGGTGGGCGCCAACGGCGGGAGCGAGGGTGTCCAGGCCGCCGGGCTGCCAGGTCCGAGCACGCACAGGGAGAACTCTGCCCAGTGGTTCGCCGGGCGCTGTAGTCCCCGGGATCCTAGGGACCGAGGCGGCCAGGCCCTGGGGCCCCTTGAGTGCGGCAGCTAATGCTCTCACCGCGGCGGGGGAAGGAGCTTGCCACCGAGACCCCCAGCCACGTGCGTCCCTCGCATTCTTTACCGGGGCCGGGGTGGCGGCTACGGACCGTCAGCTGGGCCCAGATGGAGTCTTGGGAGCCCTCAAGTGTCTCCTGTCCTTGCCCGCGCCGCCCCTCGCCACTGGCGCTGAGGCCTGACGCCGCCTGCGTCCCGGCTAGAGGCGCGCTTGCCTACAGGTGAGGGAAGACCCCCTTCACCGACAGTGGCCTTAGGCCTGGCAAGGCGCCACGACCCGCCCAGGAGCCCCGGAGGGGGCACAGCTAAAAACACCGCTGGAGAGCCCCGAGCTTCCACGACGATCGCAGTAAAGAAGCAGTTTCATCTGGGCAACGCACACTGCGCTTTAATCAAGTTCCTATTCAACATAGTCCCAGTGATTAATAGCCCAACTGCTTCGTTTTCGGTCCAGAGCTCATAAACAAGATATTTTTAGCTTGACGCTTTTGGACGGGAGGGAGTAAAAACCAGATACGTTAAATAAATATCCCGATGTGAGCCGGAGAGCTGCTTGCTGAGCCAAATGCAGGACCCATTCATATAGCATTCACCTGTGGAGGGAGACCTGGACGGAAATCAAAAAGCACCAAGAGCGATTTGCGTTTTTTTCTGCGGTGCTAAAACTAATGGCTTTTCCTACCTAGGAACAAAGAAACGCC
|
pathogenic
| 301,964 |
Subsets and Splits
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