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
|
|---|---|---|---|---|---|
Regarding the variant found on chromosome 1 at position 152304831 in gene FLG: is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Ichthyosis_vulgaris']
|
CCTTATTAATATACGTTGCATAATACCTTGGATGATCTTTACCAAACGCACTTGCTTTACAGATATCAGATCTTTCCTTGAAAACAACAGGATTGGAATTGTAACTAACACTTCCGTGCTGAGAGTGTCTAAACCCGGATTCACCATAATCATAATCTGCACTACCATAGCTGCCATGTCTCCAAACTAAACCTGATTGACCTTTTTGCCTTTCAGTGCCCTCAGATTGATAATGATAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGATTCACCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCAGCCTGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGACTGTTCCTCATTACGTGTTTCTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTAGGATCCCTGTCTTCCTCCTCTCCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCCTTGTCTTCCTCCAGTACTGGGCCCAGCCCGTCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACGTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCCGCTGATTGTCCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCCGCCTGAGTGGAAGCTTCATGGTGATGCGACCATGAGTGCCTGGAGCCATCTCCTGATTGTTCGTCATTACGAGTTTGTCTGCTGGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCTTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAAT
|
CCTTATTAATATACGTTGCATAATACCTTGGATGATCTTTACCAAACGCACTTGCTTTACAGATATCAGATCTTTCCTTGAAAACAACAGGATTGGAATTGTAACTAACACTTCCGTGCTGAGAGTGTCTAAACCCGGATTCACCATAATCATAATCTGCACTACCATAGCTGCCATGTCTCCAAACTAAACCTGATTGACCTTTTTGCCTTTCAGTGCCCTCAGATTGATAATGATAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGATTCACCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCAGCCTGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGACTGTTCCTCATTACGTGTTTCTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTAGGATCCCTGTCTTCCTCCTCTCCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCCTTGTCTTCCTCCAGTACTGGGCCCAGCCCGTCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACGTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCCGCTGATTGTCCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCCGCCTGAGTGGAAGCTTCATGGTGATGCGACCATGAGTGCCTGGAGCCATCTCCTGATTGTTCGTCATTACGAGTTTGTCTGCTGGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCATGGCCTGACACTGACTGTGTGACTCTTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATNNNN
|
pathogenic
| 14,747 |
Variant at chromosome position 152305067, chromosome 1, gene FLG: benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Ichthyosis_vulgaris']
|
TAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGATTCACCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCAGCCTGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGACTGTTCCTCATTACGTGTTTCTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTAGGATCCCTGTCTTCCTCCTCTCCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCCTTGTCTTCCTCCAGTACTGGGCCCAGCCCGTCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACGTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCCGCTGATTGTCCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCCGCCTGAGTGGAAGCTTCATGGTGATGCGACCATGAGTGCCTGGAGCCATCTCCTGATTGTTCGTCATTACGAGTTTGTCTGCTGGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCTTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGAT
|
TAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGATTCACCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCAGCCTGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGACTGTTCCTCATTACGTGTTTCTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTAGGATCCCTGTCTTCCTCCTCTCCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCCTTGTCTTCCTCCAGTACTGGGCCCAGCCCGTCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACGTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCCGCTGATTGTCCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCCGCCTGAGTGGAAGCTTCATGGTGATGCGACCATGAGTGCCTGGAGCCATCTCCTGATTGTTCGTCATTACGAGTTTGTCTGCTGGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCTTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATNNNN
|
pathogenic
| 14,752 |
Variant in gene FLG, located at chromosome 1 position 152306940: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']
|
GTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTG
|
GTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGN
|
pathogenic
| 14,787 |
Is chromosome 1, position 152307398, gene FLG variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Ichthyosis_vulgaris']
|
ACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCAC
|
ACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACN
|
pathogenic
| 14,798 |
Is the variant located on chromosome 1 at position 152307617, gene FLG, benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Ichthyosis_vulgaris']
|
CCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCC
|
CCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCNN
|
pathogenic
| 14,804 |
Evaluate this variant at chromosome 1, position 152307928, gene FLG: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']
|
TGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCT
|
TGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTNNNNNNNN
|
pathogenic
| 14,813 |
The chromosome 1, position 152308017 genetic variant in gene FLG: benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Ichthyosis_vulgaris']
|
TTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTC
|
TTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCNN
|
pathogenic
| 14,815 |
The mutation impacting FLG on chromosome 1 at position 152308047: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']
|
CCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCT
|
CCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTNNNNN
|
pathogenic
| 14,816 |
Gene FLG variant at chromosome 1, position 152308939—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic
|
GGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGC
|
GGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCNN
|
pathogenic
| 14,848 |
Regarding the variant at chromosome 1 and position 152309086, affecting gene FLG: benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Ichthyosis_vulgaris']
|
ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACC
|
ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCN
|
pathogenic
| 14,854 |
Considering the genetic mutation at chromosome 1, position 152310073, impacting FLG: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Ichthyosis_vulgaris']
|
TTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAG
|
TTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTC
|
pathogenic
| 14,871 |
Gene FLG variant at chromosome position 152310097 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Ichthyosis_vulgaris']
|
GGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCA
|
GGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCANNNN
|
pathogenic
| 14,872 |
A mutation at chromosome position 152310613 on chromosome 1 in gene FLG: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Ichthyosis_vulgaris']
|
AGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTG
|
AGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGNN
|
pathogenic
| 14,883 |
Benign or pathogenic: chromosome 1, position 152311183, gene FLG variant? Disease(s) if pathogenic?
|
pathogenic; ['Ichthyosis_vulgaris']
|
ACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCC
|
ACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCN
|
pathogenic
| 14,891 |
Evaluate this variant at chromosome 1, position 152311461, gene FLG: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Ichthyosis_vulgaris']
|
GCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTC
|
GCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCN
|
pathogenic
| 14,897 |
Does the variant impacting FLG on chromosome 1, position 152311564, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Autosomal_dominant_ichthyosis_vulgaris', 'Dermatitis,_atopic,_2', 'Dermatitis,_atopic,_2,_susceptibility_to', 'Ichthyosis_vulgaris']
|
TTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCA
|
TTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCAN
|
pathogenic
| 14,900 |
Mutation at chromosome 1, position 152311660, within FLG: benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']
|
CCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTG
|
CCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGNNNN
|
pathogenic
| 14,901 |
A genetic variant at chromosome 1, position 152311908, affecting gene FLG—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Autosomal_dominant_ichthyosis_vulgaris', 'Ichthyosis_vulgaris']
|
TTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTC
|
TTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCNN
|
pathogenic
| 14,904 |
Classify the chromosome 1 variant at position 152313055 affecting gene FLG as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Ichthyosis_vulgaris', 'Inborn_genetic_diseases']
|
GTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATT
|
GTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTN
|
pathogenic
| 14,925 |
Clinical classification of chromosome 1, position 152313587, gene FLG: benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['FLG-related_disorder']
|
GACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACA
|
GACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACANN
|
pathogenic
| 14,940 |
The mutation in gene FLG at chromosome 1, position 152313637—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']
|
GTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTT
|
GTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTT
|
pathogenic
| 14,942 |
Benign or pathogenic: chromosome 1, position 152314328, gene FLG variant? Disease(s) if pathogenic?
|
pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']
|
GACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTTTGGCCTTGTGCCCACTTACAGCTGGACTTAGTAGTCTCACAGACCTCAGTGTGCTCTAGGTAAGATCATCCCTCTTGCTGATCTTGCCATTGCTAGCAACAAGAATTTAGAAAGGCTGACTGGTTTTAAGCAGTAAAATTTACTTATACAAATTTACTGAAAATTACTTCCCCAAAAGCTAACTTAATAAATGATTAATTTGCTAAGACACAATTCTCTGAAAGCCAGTTAGCCATATGACAAGATACTCAATGAAAGTTCATTCAATTTTTTATTTGTTTTTTAAACATTTCATGAAGTTTATAATATTTCATTGTATAGGATGGATTTAATAGCTCTTCAATATTTAAAGAGAAAGGTTTTTCTGACTGGGTTTCATTTTGCCATTTAAGGAATGTTCAGTTTATCTCATTGGTGAAGAAATTAGTAAGCATGTCAATAAATCTAAGTGTGTATTATATAAAGAATTATAACTTTATTAGGACTTACAAAACCAGGTGAAACTAAAATACTGTAGAAAACAATGTGAAGGAGATTACTGTAGCAGTCACAACTAAAACATTTTTGGACCTTGGTTTGTTTGGTAAGAGGAATTAGATATTAATGAATTTTGCTGTGGTTAAGTGATATATGTATTTGGGTAAGTTTATGGGTATTTACTAAAATAATAGAATTTATAATTTCTAAACCA
|
GACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTTTGGCCTTGTGCCCACTTACAGCTGGACTTAGTAGTCTCACAGACCTCAGTGTGCTCTAGGTAAGATCATCCCTCTTGCTGATCTTGCCATTGCTAGCAACAAGAATTTAGAAAGGCTGACTGGTTTTAAGCAGTAAAATTTACTTATACAAATTTACTGAAAATTACTTCCCCAAAAGCTAACTTAATAAATGATTAATTTGCTAAGACACAATTCTCTGAAAGCCAGTTAGCCATATGACAAGATACTCAATGAAAGTTCATTCAATTTTTTATTTGTTTTTTAAACATTTCATGAAGTTTATAATATTTCATTGTATAGGATGGATTTAATAGCTCTTCAATATTTAAAGAGAAAGGTTTTTCTGACTGGGTTTCATTTTGCCATTTAAGGAATGTTCAGTTTATCTCATTGGTGAAGAAATTAGTAAGCATGTCAATAAATCTAAGTGTGTATTATATAAAGAATTATAACTTTATTAGGACTTACAAAACCAGGTGAAACTAAAATACTGTAGAAAACAATGTGAAGGAGATTACTGTAGCAGTCACAACTAAAACATTTTTGGACCTTGGTTTGTTTGGTAAGAGGAATTAGATATTAATGAATTTTGCTGTGGTTAAGTGATATATGTATTTGGGTAAGTTTATGGGTATTTACTAAAATAATAGAATTTATAATTTCTAAACC
|
pathogenic
| 14,947 |
Does the variant impacting FLG on chromosome 1, position 152314408, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Autosomal_dominant_ichthyosis_vulgaris', 'Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']
|
ACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTTTGGCCTTGTGCCCACTTACAGCTGGACTTAGTAGTCTCACAGACCTCAGTGTGCTCTAGGTAAGATCATCCCTCTTGCTGATCTTGCCATTGCTAGCAACAAGAATTTAGAAAGGCTGACTGGTTTTAAGCAGTAAAATTTACTTATACAAATTTACTGAAAATTACTTCCCCAAAAGCTAACTTAATAAATGATTAATTTGCTAAGACACAATTCTCTGAAAGCCAGTTAGCCATATGACAAGATACTCAATGAAAGTTCATTCAATTTTTTATTTGTTTTTTAAACATTTCATGAAGTTTATAATATTTCATTGTATAGGATGGATTTAATAGCTCTTCAATATTTAAAGAGAAAGGTTTTTCTGACTGGGTTTCATTTTGCCATTTAAGGAATGTTCAGTTTATCTCATTGGTGAAGAAATTAGTAAGCATGTCAATAAATCTAAGTGTGTATTATATAAAGAATTATAACTTTATTAGGACTTACAAAACCAGGTGAAACTAAAATACTGTAGAAAACAATGTGAAGGAGATTACTGTAGCAGTCACAACTAAAACATTTTTGGACCTTGGTTTGTTTGGTAAGAGGAATTAGATATTAATGAATTTTGCTGTGGTTAAGTGATATATGTATTTGGGTAAGTTTATGGGTATTTACTAAAATAATAGAATTTATAATTTCTAAACCATTAGAGATGAAAAAGGGGAATTAAGAAACTTTAATAATTCAACAGAAGCCAGGAAAGAAGAAAATAAGAAGCATAGAAAA
|
ACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTTTGGCCTTGTGCCCACTTACAGCTGGACTTAGTAGTCTCACAGACCTCAGTGTGCTCTAGGTAAGATCATCCCTCTTGCTGATCTTGCCATTGCTAGCAACAAGAATTTAGAAAGGCTGACTGGTTTTAAGCAGTAAAATTTACTTATACAAATTTACTGAAAATTACTTCCCCAAAAGCTAACTTAATAAATGATTAATTTGCTAAGACACAATTCTCTGAAAGCCAGTTAGCCATATGACAAGATACTCAATGAAAGTTCATTCAATTTTTTATTTGTTTTTTAAACATTTCATGAAGTTTATAATATTTCATTGTATAGGATGGATTTAATAGCTCTTCAATATTTAAAGAGAAAGGTTTTTCTGACTGGGTTTCATTTTGCCATTTAAGGAATGTTCAGTTTATCTCATTGGTGAAGAAATTAGTAAGCATGTCAATAAATCTAAGTGTGTATTATATAAAGAATTATAACTTTATTAGGACTTACAAAACCAGGTGAAACTAAAATACTGTAGAAAACAATGTGAAGGAGATTACTGTAGCAGTCACAACTAAAACATTTTTGGACCTTGGTTTGTTTGGTAAGAGGAATTAGATATTAATGAATTTTGCTGTGGTTAAGTGATATATGTATTTGGGTAAGTTTATGGGTATTTACTAAAATAATAGAATTTATAATTTCTAAACCATTAGAGATGAAAAAGGGGAATTAAGAAACTTTAATAATTCAACAGAAGCCAGGAAAGAAGAAAATAAGAAGCATAGAAA
|
pathogenic
| 14,949 |
Is the genetic variant on chromosome 1, position 153261515, gene LORICRIN (loricrin cornified envelope precursor protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
CCTGCCACACTGTTGCATCAGAGAAGGGGCCAGTCACACACCAGGCTGCCCATCTCAAGAATGCCAAAACCTTCATGAATGGGCCATCCTGTGCCTGCAATCACAGGGAGGTGGGGCCGACAGCCACGGGTCACGTAACTGAGGCCAAACACAAGAAGCTGGCCTGGATCAATGAGTCAGGGAGAGCTCTATATATAACCTCAGGAGATCAGTGCTCCTCACATTGCCAGCATCTTCTCTCCTCACTCACCCTTCCTGGTGCTTTGGGTAAGTGTGGTTCTACTGACTCTCTCATTTTCCCAGCTGGTCTTGCCCAGGCCTGACTAGATTAGATGGACCAGGGCCTCTTTCCCCTTTGGGAGCTATAGGACCTCTGCCTTCCCAAAAGCACTCACATTTAGAGGGCGGTCAGGAAAGGAGCAGGGGATGAGCTGCTGCCATGCAGATGGTGTTTCTGGTCTTCTGGCCAGAATGTAAACTCCACAAAGACAAGACTATCTCCTGCCTCTCTGGCACCCGCATAGGGGCAGGCATGGTGCCGGGCACAGAAGGACTCTGCAGAGGCTGTCCAAGGCAGCCTGTGCACAGGCTGAGCAGACCTTGTGAACCTGTCAGGAGGAGAGGCTGAGCCACTCTCAAGAGAGTAGGGAGAATGATCCAAAAAAGTTGCAGATGGGAGGGATTTCAGGTGCCACAGAAATCCAATTGCTGTTTTACAGAGTTAGAAGTTCTGAGAGGGAAATACAACTTCCTACTAGTCAAAGTCCCTTCTACCAAACTTGGACTTGAGAAAATCATGGAAGAGATGGCTAATAGCTTCTGGTCGGGGATGTTGGTCCAAAGGACCACCAGGGTCCTTCCCCTGTTTCCAGGCAGGGCCACAGCAGAGCCTGTCTTTTCTAGTGACTAGCCCTTGGTTCATGGCCTAGCTCAGTGGGACAGACCAAGAGTTTGAACTAAGAGCTTCTGCAGAGGATGGAGTGCAACAGCCCTCAATAGAATGAAGTCCGACAAACCTCTCTCTGTTGTGCTGGGAATGGGTAAAATCTCCTATCCTAGGTAGAGGTTTGTGGTAGTTTTCTATTTGCACTCAGAGAATCAGTGTTGAGATTGGAAGAGGCCTGAAAGATGAAGTGTTCAAACCCTTTCATTTAACAGGAAATGAGAAAGAGGCGGGCGTGTGGGTGATCTGCCCTCAAATCACACAACAGTGGTCAGAGGCAGAGCTGGGAGAAAGAATGGGCACTGCTAACTGGGCTGTTTAAAGCATAATGAAGGCTTTCTGCAGGGGAATGAGGAACTCAACTTTTCCAAAAGCAGCAATCATAAGAAACCCCGCTGAGGGCTCTCCGGGCACCTGAAGGAGCCCTGGGAGGATGGCGATGTTGCCTATGGATGCAGCTGCCTCCGTAAGTATCCTCTTGCAGCTGGTCCAGCGATGCTCTCTTCTCCCCTTCCAGGCTCTCCTTCCTTCTCAGACAAGATGTCTTATCAGAAAAAGCAGCCCACCCCTCAGCCCCCAGTGGACTGCGTGAAGACCTCTGGCGGCGGTGGCGGTGGCGGCGGCAGCGGCGGTGGTGGCTGCGGCTTCTTCGGCGGCGGCGGCTCAGGGGGCGGTAGCAGCGGTTCTGGCTGCGGCTACTCCGGCGGCGGTGGCTACTCTGGCGGCGGCTGCGGCGGGGGCTCCTCCGGCGGCGGGGGCGGGGGCGGCATTGGAGGCTGCGGAGGGGGCTCCGGTGGGAGCGTCAAGTACTCCGGAGGCGGCGGCTCCTCCGGCGGGGGCTCTGGCTGTTTCTCCAGCGGTGGGGGCGGCTCCGGCTGCTTCTCCTCCGGTGGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGTGGGGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCCGGCGGCGGCGGCTTCTCGGGCCAGGCGGTCCAGTGCCAGAGCTACGGAGGCGTCTCTAGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGCTCTGTCTGCGGCTACTCTGGCGGCGGCTCTGGCTGCGGCGGAGGCTCCTCTGGCGGCAGCGGCTCCGGCTACGTCTCCTCGCAGCAGGTCACTCAGACCTCGTGCGCGCCCCAGCCGAGTTACGGAGGGGGGTCGTCCGGCGGCGGCGGCAGCGGCGGAAGCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGGAGCTCCGGCTGCGGCGGCGGCTCCTCCGGGATTGGCAGCGGCTGCATCATCAGTGGCGGGGGCTCCGTCTGCGGAGGTGGTTCCTCTGGAGGCGGCGGCGGCGGCTCCTCCGTGGGTGGCTCCGGGAGTGGCAAGGGCGTCCCGATCTGCCACCAGACCCAGCAGAAGCAGGCGCCTACCTGGCCGTCCAAATAGATCCCCCAGGGTACCACGGAGGCGAAGGAGTTGGAGGTGTTTTCCAGGGGCACCGATGGGCTTAGAGCTCTCATGATGCTACCCGAGGTTTGCAAATCCTTCATGTCTTAACCTACCTGGAAGAAGCCATTGAGCTCTCCGGCTGCATCTAGTTCTGCTGTTTAGCCTCTTTGGTTTCTGTACAACTACCTCCCAACCCCAGTGCCTCAGTCAATAAATTTGCAAATTCATGAGAATTTTTAGGTCTCCAAGAGTATTTGTAGTGTTCAAGTTCATCCATTCCATTCCATTCTTCTCCTTTCCTGCATTCGCTCATTCACACTTACATTCATTTTACAAATGCACGGACTCTATTGGCGGAAAGGTGAGTGGATAGATGGGAGTCACCAGGAGAGGGAGGAATGGCTGGCAAACGAAGGTCAAACATATGAACATTCTAGTGTACGGCTTAAAATCATGACGTGATCCCAAAACACAAAGATCCTGAGGAGAGACTTCAGTAAACACCTCCCTGTGGATTGAGTAGCTACTGTGGGTCTCCTTACTGAACTCTGTTTTTTAAAGACAGGCTGCCCTGGAAAGACGCTGTCTCTCACAGTCCAAAGCCAATTCTGCAAGGTCTGAAAGCTGGGTGGCTGCACATTAGGAGCACCAGCTCATGCTACTCAGACTCACGGAGAAATAAAAAGCATATCAGATGTTTACGGGCCCCTAGGGTGAGCAAGACCACTTTAGTAGGTACCCGTAGGGAGAGGAGGTAGTAGGGGAGCTGTTTCCTGCTCTCTCACTCTCTCTCTCGTTTTTTTTTTTTTAATTTCAATCAGCTTTCTCGGGTTGAATGTTTCCTGCTCTCTTGAAGGAACTTTACCTAACTTAGGAAGATGCAGCATACATATACGAGATGTAAAAGCTTGGCACCAGAAAGAGGTCATGGAAAACACAAGAGCTTCCAATTAACAAGGAAGAAGCGACAGTTGCTCCAAGGGATGTATTAATTGCAGAGCCCTCAAAAGAGATGTAGAACATCAGCCTGGCCAGGGACTTTCCAGGTTCTGTTTCATATCCTGATTTTACCAGCTCTAGTTAAATGCCAATTTACTGATTTACTCAAGAAAAACTCCTGCTACGTCAAAAAGCCAAAGTACCCTTCCTACTCAATCACTGCTGGGGGGAAAAAAAGTCTTCCTCCTCAACTCTTCCATTTAGGATCACTACCATGCATCATTTTACATCGGTAATTCATGGAGATCAGAATAAATAGCAGTCTTAAAGATCCAGGAGCCCAACCACTGCATTACTTTCATGTTTTTTAACAAATGAAAGTCAGACTTTCAGTTCTGGACAAAATGAAGTAGATGTATTTCTTACTATCGCTCTTATGAAGTAGAACTAAAATCTCTGGGCATAATATATAAAACAAACATAAGAAGACTTTGTAAGCTGGGTGGCTGCACGTTAACAGCACCAGCTTATGCCGTAAACATCTGATATGCTTATTATTTCTCCGGTGAGTCTGGAGAGGACAAGGCAGAGTAGCTAGAGTCCTCAGAACTAAAGGACTGACAGTGGTAAGTTTCCTGGGTTTTCTTTTTGCCTCCTGTGTTTCCCACATTGGGCACTAGAAAATCTGCAACCAAGATTCTGGCAGGTGCAGACAAAAAAATTGCACCAAGA
|
CCTGCCACACTGTTGCATCAGAGAAGGGGCCAGTCACACACCAGGCTGCCCATCTCAAGAATGCCAAAACCTTCATGAATGGGCCATCCTGTGCCTGCAATCACAGGGAGGTGGGGCCGACAGCCACGGGTCACGTAACTGAGGCCAAACACAAGAAGCTGGCCTGGATCAATGAGTCAGGGAGAGCTCTATATATAACCTCAGGAGATCAGTGCTCCTCACATTGCCAGCATCTTCTCTCCTCACTCACCCTTCCTGGTGCTTTGGGTAAGTGTGGTTCTACTGACTCTCTCATTTTCCCAGCTGGTCTTGCCCAGGCCTGACTAGATTAGATGGACCAGGGCCTCTTTCCCCTTTGGGAGCTATAGGACCTCTGCCTTCCCAAAAGCACTCACATTTAGAGGGCGGTCAGGAAAGGAGCAGGGGATGAGCTGCTGCCATGCAGATGGTGTTTCTGGTCTTCTGGCCAGAATGTAAACTCCACAAAGACAAGACTATCTCCTGCCTCTCTGGCACCCGCATAGGGGCAGGCATGGTGCCGGGCACAGAAGGACTCTGCAGAGGCTGTCCAAGGCAGCCTGTGCACAGGCTGAGCAGACCTTGTGAACCTGTCAGGAGGAGAGGCTGAGCCACTCTCAAGAGAGTAGGGAGAATGATCCAAAAAAGTTGCAGATGGGAGGGATTTCAGGTGCCACAGAAATCCAATTGCTGTTTTACAGAGTTAGAAGTTCTGAGAGGGAAATACAACTTCCTACTAGTCAAAGTCCCTTCTACCAAACTTGGACTTGAGAAAATCATGGAAGAGATGGCTAATAGCTTCTGGTCGGGGATGTTGGTCCAAAGGACCACCAGGGTCCTTCCCCTGTTTCCAGGCAGGGCCACAGCAGAGCCTGTCTTTTCTAGTGACTAGCCCTTGGTTCATGGCCTAGCTCAGTGGGACAGACCAAGAGTTTGAACTAAGAGCTTCTGCAGAGGATGGAGTGCAACAGCCCTCAATAGAATGAAGTCCGACAAACCTCTCTCTGTTGTGCTGGGAATGGGTAAAATCTCCTATCCTAGGTAGAGGTTTGTGGTAGTTTTCTATTTGCACTCAGAGAATCAGTGTTGAGATTGGAAGAGGCCTGAAAGATGAAGTGTTCAAACCCTTTCATTTAACAGGAAATGAGAAAGAGGCGGGCGTGTGGGTGATCTGCCCTCAAATCACACAACAGTGGTCAGAGGCAGAGCTGGGAGAAAGAATGGGCACTGCTAACTGGGCTGTTTAAAGCATAATGAAGGCTTTCTGCAGGGGAATGAGGAACTCAACTTTTCCAAAAGCAGCAATCATAAGAAACCCCGCTGAGGGCTCTCCGGGCACCTGAAGGAGCCCTGGGAGGATGGCGATGTTGCCTATGGATGCAGCTGCCTCCGTAAGTATCCTCTTGCAGCTGGTCCAGCGATGCTCTCTTCTCCCCTTCCAGGCTCTCCTTCCTTCTCAGACAAGATGTCTTATCAGAAAAAGCAGCCCACCCCTCAGCCCCCAGTGGACTGCGTGAAGACCTCTGGCGGCGGTGGCGGTGGCGGCGGCAGCGGCGGTGGTGGCTGCGGCTTCTTCGGCGGCGGCGGCTCAGGGGGCGGTAGCAGCGGTTCTGGCTGCGGCTACTCCGGCGGCGGTGGCTACTCTGGCGGCGGCTGCGGCGGGGGCTCCTCCGGCGGCGGGGGCGGGGGCGGCATTGGAGGCTGCGGAGGGGGCTCCGGTGGGAGCGTCAAGTACTCCGGAGGCGGCGGCTCCTCCGGCGGGGGCTCTGGCTGTTTCTCCAGCGGTGGGGGCGGCTCCGGCTGCTTCTCCTCCGGTGGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGTGGGGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCCGGCGGCGGCGGCTTCTCGGGCCAGGCGGTCCAGTGCCAGAGCTACGGAGGCGTCTCTAGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGCTCTGTCTGCGGCTACTCTGGCGGCGGCTCTGGCGGCGGCTCTGGCTGCGGCGGAGGCTCCTCTGGCGGCAGCGGCTCCGGCTACGTCTCCTCGCAGCAGGTCACTCAGACCTCGTGCGCGCCCCAGCCGAGTTACGGAGGGGGGTCGTCCGGCGGCGGCGGCAGCGGCGGAAGCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGGAGCTCCGGCTGCGGCGGCGGCTCCTCCGGGATTGGCAGCGGCTGCATCATCAGTGGCGGGGGCTCCGTCTGCGGAGGTGGTTCCTCTGGAGGCGGCGGCGGCGGCTCCTCCGTGGGTGGCTCCGGGAGTGGCAAGGGCGTCCCGATCTGCCACCAGACCCAGCAGAAGCAGGCGCCTACCTGGCCGTCCAAATAGATCCCCCAGGGTACCACGGAGGCGAAGGAGTTGGAGGTGTTTTCCAGGGGCACCGATGGGCTTAGAGCTCTCATGATGCTACCCGAGGTTTGCAAATCCTTCATGTCTTAACCTACCTGGAAGAAGCCATTGAGCTCTCCGGCTGCATCTAGTTCTGCTGTTTAGCCTCTTTGGTTTCTGTACAACTACCTCCCAACCCCAGTGCCTCAGTCAATAAATTTGCAAATTCATGAGAATTTTTAGGTCTCCAAGAGTATTTGTAGTGTTCAAGTTCATCCATTCCATTCCATTCTTCTCCTTTCCTGCATTCGCTCATTCACACTTACATTCATTTTACAAATGCACGGACTCTATTGGCGGAAAGGTGAGTGGATAGATGGGAGTCACCAGGAGAGGGAGGAATGGCTGGCAAACGAAGGTCAAACATATGAACATTCTAGTGTACGGCTTAAAATCATGACGTGATCCCAAAACACAAAGATCCTGAGGAGAGACTTCAGTAAACACCTCCCTGTGGATTGAGTAGCTACTGTGGGTCTCCTTACTGAACTCTGTTTTTTAAAGACAGGCTGCCCTGGAAAGACGCTGTCTCTCACAGTCCAAAGCCAATTCTGCAAGGTCTGAAAGCTGGGTGGCTGCACATTAGGAGCACCAGCTCATGCTACTCAGACTCACGGAGAAATAAAAAGCATATCAGATGTTTACGGGCCCCTAGGGTGAGCAAGACCACTTTAGTAGGTACCCGTAGGGAGAGGAGGTAGTAGGGGAGCTGTTTCCTGCTCTCTCACTCTCTCTCTCGTTTTTTTTTTTTTAATTTCAATCAGCTTTCTCGGGTTGAATGTTTCCTGCTCTCTTGAAGGAACTTTACCTAACTTAGGAAGATGCAGCATACATATACGAGATGTAAAAGCTTGGCACCAGAAAGAGGTCATGGAAAACACAAGAGCTTCCAATTAACAAGGAAGAAGCGACAGTTGCTCCAAGGGATGTATTAATTGCAGAGCCCTCAAAAGAGATGTAGAACATCAGCCTGGCCAGGGACTTTCCAGGTTCTGTTTCATATCCTGATTTTACCAGCTCTAGTTAAATGCCAATTTACTGATTTACTCAAGAAAAACTCCTGCTACGTCAAAAAGCCAAAGTACCCTTCCTACTCAATCACTGCTGGGGGGAAAAAAAGTCTTCCTCCTCAACTCTTCCATTTAGGATCACTACCATGCATCATTTTACATCGGTAATTCATGGAGATCAGAATAAATAGCAGTCTTAAAGATCCAGGAGCCCAACCACTGCATTACTTTCATGTTTTTTAACAAATGAAAGTCAGACTTTCAGTTCTGGACAAAATGAAGTAGATGTATTTCTTACTATCGCTCTTATGAAGTAGAACTAAAATCTCTGGGCATAATATATAAAACAAACATAAGAAGACTTTGTAAGCTGGGTGGCTGCACGTTAACAGCACCAGCTTATGCCGTAAACATCTGATATGCTTATTATTTCTCCGGTGAGTCTGGAGAGGACAAGGCAGAGTAGCTAGAGTCCTCAGAACTAAAGGACTGACAGTGGTAAGTTTCCTGGGTTTTCTTTTTGCCTCCTGTGTTTCCCACATTGGGCACTAGAAAATCTGCAACCAAGATTCTGGCAGGTGCAGACAAAAAA
|
benign
| 14,996 |
Does the genetic variant at chromosome 1, position 153816289, impacting gene GATAD2B (GATA zinc finger domain containing 2B), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; [, 'Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']
|
GCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGA
|
GCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGANN
|
pathogenic
| 15,028 |
Variant at chromosome position 153816570, chromosome 1, gene GATAD2B (GATA zinc finger domain containing 2B): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']
|
CAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGA
|
CAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAN
|
pathogenic
| 15,033 |
Is chromosome 1, position 153817453, gene GATAD2B (GATA zinc finger domain containing 2B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Inborn_genetic_diseases', 'Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']
|
AGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATT
|
AGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTAT
|
pathogenic
| 15,036 |
Variant in GATAD2B (GATA zinc finger domain containing 2B), chromosome 1, position 153818122—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']
|
ACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAG
|
ACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGN
|
pathogenic
| 15,043 |
Gene GATAD2B (GATA zinc finger domain containing 2B) variant at chromosome 1, position 153818821—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']
|
TGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTG
|
TGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGNN
|
pathogenic
| 15,046 |
For chromosome 1, position 153819635, gene GATAD2B (GATA zinc finger domain containing 2B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']
|
TGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGGCCTCCCCTTTGGCCTTAAACAATCAACTTAAACCCTTAATGATCACAGATCGCTAGCTGTCCACTTCTCAGGGTTTCTTGTCCTAGTTGCTGTTGGCACATGGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTATTGCCCAGGCTGGAGTGTAGTGGTGCTTGCTACATTCTCAAACTCCTGGCCCCAAGAGATTCCCCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACTGTGCCTGGCTAATTTTTTATTTTTTTGTAAGGGGTGGGGGTCTTGCTATGCTGCCCAGGCTAGTCTTGAATTCCTGGGTTCAAGTGATCCTGCTGCCTCAGCCACCCAAAGTGTTGGAATTACAGGTGTGAGCCACCATGCCCAGCCAGGACATGGATACTTTTGAACAGGGAACCCCGATCACTGGAATAAGCAATTTCCTAACAGGGTAAATCTGAGTTGCTAAAATCAACCAAACTTAGGTAAGGAAATAGAATAGGAGGATAGAAAGGTAAGAATGACTATCTTGTGAACTATTAAATTTGTCTAGATTGCTGGCCACAGACACAGCAAGCTGAGAAGGTAGAAATACAGAAAAAGCCACTAGAGGGAGAAAAGAGCCTTTCATTCTCTAACCCCAAATATGAGGAGTAACAGGCCTGAATAAAGTGTCTGCATTCTTTTTTTTGAGATGGATTCTGGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGGAACCTCCGTCTCCTGGGTTCAAGTGATTCTCCTGCCT
|
TGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGGCCTCCCCTTTGGCCTTAAACAATCAACTTAAACCCTTAATGATCACAGATCGCTAGCTGTCCACTTCTCAGGGTTTCTTGTCCTAGTTGCTGTTGGCACATGGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTATTGCCCAGGCTGGAGTGTAGTGGTGCTTGCTACATTCTCAAACTCCTGGCCCCAAGAGATTCCCCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACTGTGCCTGGCTAATTTTTTATTTTTTTGTAAGGGGTGGGGGTCTTGCTATGCTGCCCAGGCTAGTCTTGAATTCCTGGGTTCAAGTGATCCTGCTGCCTCAGCCACCCAAAGTGTTGGAATTACAGGTGTGAGCCACCATGCCCAGCCAGGACATGGATACTTTTGAACAGGGAACCCCGATCACTGGAATAAGCAATTTCCTAACAGGGTAAATCTGAGTTGCTAAAATCAACCAAACTTAGGTAAGGAAATAGAATAGGAGGATAGAAAGGTAAGAATGACTATCTTGTGAACTATTAAATTTGTCTAGATTGCTGGCCACAGACACAGCAAGCTGAGAAGGTAGAAATACAGAAAAAGCCACTAGAGGGAGAAAAGAGCCTTTCATTCTCTAACCCCAAATATGAGGAGTAACAGGCCTGAATAAAGTGTCTGCATTCTTTTTTTTGAGATGGATTCTGGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGGAACCTCCGTCTCCTGGGTTCAAGTGATTCTCCTGCCTNNNN
|
pathogenic
| 15,050 |
Evaluate this variant at chromosome 1, position 154273372, gene HAX1 (HCLS1 associated protein X-1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Kostmann_syndrome', 'Severe_congenital_neutropenia']
|
TTGGAGTGGGGTGAGGGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTG
|
TTGGAGTGGGGTGAGGGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGN
|
pathogenic
| 15,096 |
Chromosome 1, position 154273387, gene HAX1 (HCLS1 associated protein X-1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGG
|
GGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGNNN
|
benign
| 15,097 |
Benign or pathogenic: chromosome 1, position 154273402, gene HAX1 (HCLS1 associated protein X-1) variant? Disease(s) if pathogenic?
|
pathogenic; ['Kostmann_syndrome']
|
TATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTA
|
TATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGT
|
pathogenic
| 15,099 |
Evaluate if the mutation on chromosome 1 at position 154273412 in HAX1 (HCLS1 associated protein X-1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Kostmann_syndrome']
|
AGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACG
|
AGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATAGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACAC
|
pathogenic
| 15,102 |
A mutation at chromosome position 154273863 on chromosome 1 in gene HAX1 (HCLS1 associated protein X-1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Kostmann_syndrome']
|
GACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTT
|
GACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCCCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTN
|
pathogenic
| 15,114 |
Evaluate the clinical significance of the mutation at chromosome 1, position 154273880 in gene HAX1 (HCLS1 associated protein X-1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Inborn_genetic_diseases', 'Kostmann_syndrome']
|
GAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTTCTAGAACCATCCAACA
|
GAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTTCTAGAACCATCCAAC
|
pathogenic
| 15,117 |
Variant at chromosome 1, position 154273914, gene HAX1 (HCLS1 associated protein X-1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Kostmann_syndrome']
|
CTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTTCTAGAACCATCCAACACTTCCGAAATTATCTTGGTCCTCTGCCTTCTCCT
|
CTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTTCTAGAACCATCCAACACTTCCGAAATTATCTTGGTCCTCTGCCTTCTCC
|
pathogenic
| 15,121 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 154585296, gene ADAR (adenosine deaminase RNA specific): what disease(s) if pathogenic?
|
pathogenic; ['Aicardi-Goutieres_syndrome_6', 'Symmetrical_dyschromatosis_of_extremities']
|
ACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAAGATCAGGTCTGCGCCCTGCCCACGAGCCTACTTCTGAAGCCATCTGGAAAAATGAAAGCACTTGGATAAATGGAAAAGTATGCCTGAATTTTAAATCTGCTCAATTACAGGTTATCTGTAGCAGTTAAGAATCAACATCTATGGCATTCTTTAAAACACTCCTAATTTACATGTGACTTAGTCAACTTCCCTTGGTGTCACTGTCATGAGAGATATTACACCGGGTGGAACAGTGACGTTAAGCCAACAGGATTTTTTGCCCTTATTCTTGCTAAGTCATGATTATCTGAGCAGAGATGATTTTATACCCTCTAGGATTTGTCCCGTTGGCTAGGGTGTACGCCCAGCATTGGCGGGGAAAATATTCCTAGGAATGCTTTAGGAGAAGAGGCAGCTGGAAGCTTGGCAATATTCCAAGGCATGCCCGTGCTCCCTGGGAAGTGGTCTGTGTCATCCTGCCGGGTGAAACCTCTGCTATTGCTTGAGCAGCTCCCTTAACCCAGTCTGGCTGGTTCTAGACTTCCCAGCTGCCGGAGAAAGTGATACACTTCCAGGGAAGCAGCTTTCCTTGCCTTGCCCGCCCTGCAGCTGGCTAAAGTGCAGGATGGGAGGATGGCTGGGCATTATCTGCAGGCTCCAATCACACTTCCGTGGCACTGGGAACTGCAGTTTTCAACTCCTACCCTTACAAATGTTTCACCAAATCCTTTATGTTCACCTCTTTGCCCTCTGAGGGGGAAAAGGAGACATTCAGATCACAAGGAAAGAATCTCAGAAGGGAAAGAGGGGAAGTAGAGGGGTCTGCGTAATCCACAAATGAAATTATCAGTCCCTGACATGATCCAGAGTTGACTGAAACCTAATCAAGACCGCAAGAGGTCAGTGTAGCAAACACAAAGGGAAAGGAAATGGAAACAAATCAAAACAAAACTTTTAAGAGGAAATGGACCGCAGGTGCTCAGTGACTATGTATGCTTTGGGTAGAAAGAAAAGATAACTTCTTAGGTTTCTGCCTCTTCACTTGGGGGAAAAAAGGGGGGCCTGGCCAGACCTTGCCTAGCAATCCCAAAGAAAGCAGGATAAATGGGAACCCAAAGTTTTCAGTATCACCAATTATGGCTTAAAAAGAAAAAAAAAGGAGAAAAAAAAATCCCCTGACCATGTGATGAGGAATGCTACGACCTACCTCTCTCACACCCTAGTATGACACACCCTAATCCATCTGTCACTGGAGCATACTATACTGGGCAGAGATAAAAGTTCTTTTCCTCCTGGGGTTTGCTAATCCAGTTCCCATAGCCCATATCCTTCAGGCCTTTTTTGAAGTAGTTCTTGGCCGTCTCGTAGTCACGGGCAGCTTTCTTGGCCTCACCATAGGAGAGTCTCAGTAGATCCCTGCGGTAACGGAAGGAGCAGAGCTTCTTAAATAGAAGAAAAATGTTCTTTTTGGAGACCCGGGACAATTCATTCCGTGGCCTAGAGAAACAAAAGCACTCATTATTCACCTGGGACCTGTAAGATAAGGAGCTCACAGTGGAGACACCGTGGGAGGGGAGGCGGCTCTCAAGCCCTGAGACTGCAGAGGTATGATGCACCCTTGCAAGTCAGGGCAGAGGCTTGGTCCTCACTGCGCTCTCCTGTCTCCTTACCCATCCACAGTGCCTCTGGTACCGTCCAGGATCTCCAGGTCATAGCCATCAGCCAGACACCAGTTGACGCTTGTCTCCTTAGTCTTCCCGGATTGCCTTTTGGAATCATATATGCTGACTCTGCCAACCTAGGAATCCCAGAAGCAACGGGAGAAAGATGGAAACCTTTCAGGAATAAGATTCTGAAGCAGGGACTCAAGACTCATAGGAGAGAGGAAGTGTGGGGTCATGATCTTTCCCCTGTATTTAGGGTTCTGTTTGGCTAAGACTGAGCACCCTCTAGACATACTAACTCCACCTCGATTCAGATTAATTCCAGACTAAGAGAAGAAAAGCCCTTGGCATCCAAAAGGAAGAAAGTTTAAGTTCTTGGGAGACCAACCAATGTTGGTGGTGGGCCACTGTGGGCAATGTTCCCTTGTGGGCTACCACTGTGGGCAATGTTCCCCTTGCCCACAGTGTACATTTTTCCTCTGTTTACATGACTGCTTGAAAAGGAGGAAAATGTCAGGGAAAATAGAAGGGGGTTATAGCACCTTGGGGTGGTTGACAATAAAGGGATGTCGTAGTCCATCCTCAAATGCACTCCCATCTCTTGTCACACGACAGCAAATAGCACGGGTCAGATGCCCTTGGCTGAAAAGGTAACCTGAGTACAAAAAAGAGAAACATATATACCTGTGTTTGCACCAAATGCTGTTAAGAGGCAGAAGCATGTGGGGATTTTGGAGGTACAAGATATAGTTGTCAAGAAAGAGAAACAGCTGCCTTGTTAGGAAGCACCTTCTGACTGGGGCTACCAGGATCTTCCTACCACAGCAGACTGGACACTCAATCAATTACTGAGGAGTGAATCATGCTCACTTTGATAAGGGAGACAAAACACCTGGCAATAAAGCATGCAGTTTGGGATCTGGGCACAAGAAGGACAGACCAGTTCCAGATCCCAAGGCAGGCCCCTTACCCAATGTGACAGATTTGAGATAAATGGGCTGCAGGAAGTGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAA
|
ACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAAGATCAGGTCTGCGCCCTGCCCACGAGCCTACTTCTGAAGCCATCTGGAAAAATGAAAGCACTTGGATAAATGGAAAAGTATGCCTGAATTTTAAATCTGCTCAATTACAGGTTATCTGTAGCAGTTAAGAATCAACATCTATGGCATTCTTTAAAACACTCCTAATTTACATGTGACTTAGTCAACTTCCCTTGGTGTCACTGTCATGAGAGATATTACACCGGGTGGAACAGTGACGTTAAGCCAACAGGATTTTTTGCCCTTATTCTTGCTAAGTCATGATTATCTGAGCAGAGATGATTTTATACCCTCTAGGATTTGTCCCGTTGGCTAGGGTGTACGCCCAGCATTGGCGGGGAAAATATTCCTAGGAATGCTTTAGGAGAAGAGGCAGCTGGAAGCTTGGCAATATTCCAAGGCATGCCCGTGCTCCCTGGGAAGTGGTCTGTGTCATCCTGCCGGGTGAAACCTCTGCTATTGCTTGAGCAGCTCCCTTAACCCAGTCTGGCTGGTTCTAGACTTCCCAGCTGCCGGAGAAAGTGATACACTTCCAGGGAAGCAGCTTTCCTTGCCTTGCCCGCCCTGCAGCTGGCTAAAGTGCAGGATGGGAGGATGGCTGGGCATTATCTGCAGGCTCCAATCACACTTCCGTGGCACTGGGAACTGCAGTTTTCAACTCCTACCCTTACAAATGTTTCACCAAATCCTTTATGTTCACCTCTTTGCCCTCTGAGGGGGAAAAGGAGACATTCAGATCACAAGGAAAGAATCTCAGAAGGGAAAGAGGGGAAGTAGAGGGGTCTGCGTAATCCACAAATGAAATTATCAGTCCCTGACATGATCCAGAGTTGACTGAAACCTAATCAAGACCGCAAGAGGTCAGTGTAGCAAACACAAAGGGAAAGGAAATGGAAACAAATCAAAACAAAACTTTTAAGAGGAAATGGACCGCAGGTGCTCAGTGACTATGTATGCTTTGGGTAGAAAGAAAAGATAACTTCTTAGGTTTCTGCCTCTTCACTTGGGGGAAAAAAGGGGGGCCTGGCCAGACCTTGCCTAGCAATCCCAAAGAAAGCAGGATAAATGGGAACCCAAAGTTTTCAGTATCACCAATTATGGCTTAAAAAGAAAAAAAAAGGAGAAAAAAAAATCCCCTGACCATGTGATGAGGAATGCTACGACCTACCTCTCTCACACCCTAGTATGACACACCCTAATCCATCTGTCACTGGAGCATACTATACTGGGCAGAGATAAAAGTTCTTTTCCTCCTGGGGTTTGCTAATCCAGTTCCCATAGCCCATATCCTTCAGGCCTTTTTTGAAGTAGTTCTTGGCCGTCTCGTAGTCACGGGCAGCTTTCTTGGCCTCACCATAGGAGAGTCTCAGTAGATCCCTGCGGTAACGGAAGGAGCAGAGCTTCTTAAATAGAAGAAAAATGTTCTTTTTGGAGACCCGGGACAATTCATTCCGTGGCCTAGAGAAACAAAAGCACTCATTATTCACCTGGGACCTGTAAGATAAGGAGCTCACAGTGGAGACACCGTGGGAGGGGAGGCGGCTCTCAAGCCCTGAGACTGCAGAGGTATGATGCACCCTTGCAAGTCAGGGCAGAGGCTTGGTCCTCACTGCGCTCTCCTGTCTCCTTACCCATCCACAGTGCCTCTGGTACCGTCCAGGATCTCCAGGTCATAGCCATCAGCCAGACACCAGTTGACGCTTGTCTCCTTAAGTCTTCCCGGATTGCCTTTTGGAATCATATATGCTGACTCTGCCAACCTAGGAATCCCAGAAGCAACGGGAGAAAGATGGAAACCTTTCAGGAATAAGATTCTGAAGCAGGGACTCAAGACTCATAGGAGAGAGGAAGTGTGGGGTCATGATCTTTCCCCTGTATTTAGGGTTCTGTTTGGCTAAGACTGAGCACCCTCTAGACATACTAACTCCACCTCGATTCAGATTAATTCCAGACTAAGAGAAGAAAAGCCCTTGGCATCCAAAAGGAAGAAAGTTTAAGTTCTTGGGAGACCAACCAATGTTGGTGGTGGGCCACTGTGGGCAATGTTCCCTTGTGGGCTACCACTGTGGGCAATGTTCCCCTTGCCCACAGTGTACATTTTTCCTCTGTTTACATGACTGCTTGAAAAGGAGGAAAATGTCAGGGAAAATAGAAGGGGGTTATAGCACCTTGGGGTGGTTGACAATAAAGGGATGTCGTAGTCCATCCTCAAATGCACTCCCATCTCTTGTCACACGACAGCAAATAGCACGGGTCAGATGCCCTTGGCTGAAAAGGTAACCTGAGTACAAAAAAGAGAAACATATATACCTGTGTTTGCACCAAATGCTGTTAAGAGGCAGAAGCATGTGGGGATTTTGGAGGTACAAGATATAGTTGTCAAGAAAGAGAAACAGCTGCCTTGTTAGGAAGCACCTTCTGACTGGGGCTACCAGGATCTTCCTACCACAGCAGACTGGACACTCAATCAATTACTGAGGAGTGAATCATGCTCACTTTGATAAGGGAGACAAAACACCTGGCAATAAAGCATGCAGTTTGGGATCTGGGCACAAGAAGGACAGACCAGTTCCAGATCCCAAGGCAGGCCCCTTACCCAATGTGACAGATTTGAGATAAATGGGCTGCAGGAAGTGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCA
|
pathogenic
| 15,246 |
Gene mutation in ADAR (adenosine deaminase RNA specific) at chromosome 1, position 154588267—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
TGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAGCTGATGGACGTCTGGGTTGTTTCCACTTTTTTGGCTCTTGTGAGTAATGCTGCCATGAACATTCACATATTAGTTTCCGTGTGGACACAGATCTCCATCTCTCTGCAGCATATACCTAGGAGTGGAGCACCGGCTCCATGGTAACTGTGTCTATACTTTAGGGTATTTAGCAAGGTTTCAGGACCACCATGATGACTGCTGACGTGGCCTGAACGCAATGGAGTGGATGCGAAGAGACAGTAAGGAGACAGGAGAGGATAGGAGAGAAGGAGCCAGTGGACAAGGCAGAGTCAACTGCCAGCTAGACAGGAGGGGACCCCAGCATTTGGCATCCTCATCTGTCAACTCCTCAGGGCTTGGTTGTGCCGCACTCTTCATTTCCTCCCCGCTTTCTTGAGGTAATCCTATGCATTCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGA
|
TGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAGCTGATGGACGTCTGGGTTGTTTCCACTTTTTTGGCTCTTGTGAGTAATGCTGCCATGAACATTCACATATTAGTTTCCGTGTGGACACAGATCTCCATCTCTCTGCAGCATATACCTAGGAGTGGAGCACCGGCTCCATGGTAACTGTGTCTATACTTTAGGGTATTTAGCAAGGTTTCAGGACCACCATGATGACTGCTGACGTGGCCTGAACGCAATGGAGTGGATGCGAAGAGACAGTAAGGAGACAGGAGAGGATAGGAGAGAAGGAGCCAGTGGACAAGGCAGAGTCAACTGCCAGCTAGACAGGAGGGGACCCCAGCATTTGGCATCCTCATCTGTCAACTCCTCAGGGCTTGGTTGTGCCGCACTCTTCATTTCCTCCCCGCTTTCTTGAGGTAATCCTATGCATTCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGANN
|
benign
| 15,254 |
Mutation found at chromosome 1 position 154589856, gene ADAR: benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Aicardi-Goutieres_syndrome_6']
|
TCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAA
|
TCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAANNNN
|
pathogenic
| 15,262 |
Variant at chromosome 1, position 154589860, gene ADAR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Aicardi-Goutieres_syndrome_6', 'Symmetrical_dyschromatosis_of_extremities']
|
ATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAAAGAA
|
ATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAAAGA
|
pathogenic
| 15,263 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 154590245, gene ADAR (adenosine deaminase RNA specific): what disease(s) if pathogenic?
|
pathogenic; ['ADAR-related_type_1_interferonopathy', 'Aicardi-Goutieres_syndrome_6', 'Inborn_genetic_diseases', 'Symmetrical_dyschromatosis_of_extremities']
|
TTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAAAGAAGATGGTGAAGGCGGTCAGGAGGGACAGATTGTGTAGTATCTTTACCTCAGGGATCCAGGAGAATTTCATGACTGCCCCATGTGTTTGAAAAGAATATGAACTCTTACGTGCAAAGTTTTATACTGATATATTTACATATATGATAAAGTTTGTTAATTATGCAACTAGAATCCTTTAGAGCTGTGCTATCCAATATGGTAGCCACTAGCCAAATGGGGCTATTGCCATAAGTGCCTCCTCTCAGCCTCTTTGCCAGCTCTGCGCTTCTCCCACCACAGGATTTAACAGTGTCCTTCGCCTAGAACCCTCAGTCTTTCTCTCTTCATCATCCTTAAAGTCTCAGCTCAGGCAGTACTTCTTGGGGAAGCCCTTCCCCCTCTCCTTC
|
TTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAAAGAAGATGGTGAAGGCGGTCAGGAGGGACAGATTGTGTAGTATCTTTACCTCAGGGATCCAGGAGAATTTCATGACTGCCCCATGTGTTTGAAAAGAATATGAACTCTTACGTGCAAAGTTTTATACTGATATATTTACATATATGATAAAGTTTGTTAATTATGCAACTAGAATCCTTTAGAGCTGTGCTATCCAATATGGTAGCCACTAGCCAAATGGGGCTATTGCCATAAGTGCCTCCTCTCAGCCTCTTTGCCAGCTCTGCGCTTCTCCCACCACAGGATTTAACAGTGTCCTTCGCCTAGAACCCTCAGTCTTTCTCTCTTCATCATCCTTAAAGTCTCAGCTCAGGCAGTACTTCTTGGGGAAGCCCTTCCCCCTCTCCTTCNN
|
pathogenic
| 15,271 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 154598698, gene ADAR (adenosine deaminase RNA specific): what disease(s) if pathogenic?
|
benign
|
TATTGTCTTCTAAGAGGCCGTGGAGACAGGGCTGGACTTGTTTCCCTCAACTCGCCCCTTCTGTCCTACACAGCTAAAGCACACCCTTGTTTTCCCTGGGTTACAGACCATCCCCAACTGGTGACACATGCATTAGCCAGGACTAGGACACTCACTTGGGCTCGTGAGGAGGTCCGGACTGGTCGACCAACTTGAATTCAGCAGCAAAGCCATGGGAGCGGGCGTACTCCAAAAGGCCACCCACAGGGTTGGTGTTCAGGTATCTCACGAGCTCGCCAATCTTCCTGACCTTGTTGGGCATCATGGATTCCAAGTTATCAAGTGACTCTGAGATCATACCTTCAGGCTAAAGGAGAATCCATCAAACAGAGGAGCCATAAACACTTCAGGAAATGTTGAGGGAGTCACTGGCAATCTTAAACCACTCAGTTGCTAAAAATGACCTGTATCTTTTGAGTAGGAAAACGCCCTACCTGGTTATCAGAAGCCATGGAGTTGGTCGCCTCCCCATGCAGGGCCTTCATGGCTTCCTCTGCGGCCATCTGCTTTGCCACTTTCTTGCTGGGAGCACTCACACTGGGGAAAGTTTGGGCTCCCACTGCAACACAGTATTGGAACCTGACAGGAGATGAAGCACGTAGAAGGATTAAAATGGTTTTGACTGAGGAGCCTGACCTAGCCTCTGCCAGGCTGCCATCCTCCACTACTGGTAATTTCCTTGAACACATCACCTCTGTGCAGTCACATCTCATGCAGTCACTTCTGCCTTGAACAGCCAGTGTCTCTTAGCCTGGCTGACCCCTTTCAACATTTAAGCATCAACCTAGTTTCACCTCTTCCAGGAACACTTCTCTTGAACATGTGAGTCTATAGACCCACAGGCAGAGAGCTTCTCAGGTCCTGTACCTTTCTGTCCCACCAACAGTGAGTGACCTCCAAGCCGTGAACCTCCCTAGTGCTTATAGAGGAGATAGAGGGTGGGCCAGGAATTCCCTTTGAATTCCTAATCCCTAATTGTCTGCCTCACAAGCAGCAACCAGGACCTCAGAGCCCTCCTTTCCCCATTTTGAAACAGGAGAAATTGGTCAATCTGCCATCCCTGAGGAGGCAAGGAAGAAAATGTGTCTCTTTTTCTTTCTGAGAAAACCTCAGCTGGACAGAGGACACGTAGGACATACTTGGGTTCATGGGCAGGGCCTTCTTTGGACAGGAGACGGAATTCGCAGGAGTTCCCCAATTTGTGCATACACTCAAGCAGTGTGGTGACGGGGCTCTTCCCAGAAAAGAAGGATGTGGCTGAAGGGGTGGGGGTCTGGGACTCTGCAGTCTAGAGAAAATGAGAGACAAGAAGAAAACAAAACTAAGAAAACACTGGTTAGTCCATCACAGAAGAAGGGATGGGGATGGGGGACTTTATTCCCACCACCTGTCAAGGGGTTGGCTTCCCAAAGTTAAAGGGGCTGCTGGAGCTCTCATTCCGCATCTTCCAAGAGAGGAGATTGGCCTCAATAAACTTTCAGGTCTCTTTCAAGTCCGAAATTCTGTAAATCCAATTATGTTGGGACAGGAGCAGACAGAGGAGCTGGGTATGAGAGGAGGAAAGGTGGGCTGGCGAGATAGGGTAGAGGGAAGAGTGGGAAGCTGACTCCGAGATGGTGTCAGTTGTTTAGGCTGGGATTGCCTCAAGGGAGTCAGTTACAATCCAGACACTGACAGGGAACTGATCCTCCCAGATGGCAGGAGGACACCTACCTTCTCTGATTCTTTCTCTGTGGAATAGTGGGATGATTCTTCTGATTTTCCACTGTCCTTGGCTTTGGCTTCCTCTAGCAGAATTGTCATGGCTTTCATAGCTGCATCCTGCTTGGCCACTTTCTTGCTTCCAGCTTCAGCTGGGGGAAACTCTCGGCCATTGATGACAACCTGGAATTTAAATCTTGACGGAAAGTGATTAGATGTGTGAACAGGAGTCTAGGTCACTCCTTCTGCCTTCTCCAAAGAGACCTTCAACCTGGAATTTTCTGCTACGCTAAGGGGCTTTTCACTTGTGGAGATGAAGGGTAGGCCAAGGAACTCCTTCCTACTCCTTAAGGCTCAGCCTGTCCTTTCTTTTTGTAAACAAAGCAGCCAGTGACTCTTTCCCCATAGCTCAGTGAAGCAAACATAGGCACAGATGATAGGAAACTAGCTCAGGGGAAACCCACTATCTCTTTAACAATGAATTAAGATAAAACCCACACACACAAAAATGATGAGCCAAAAATTACCATTATAGTCTTGTGAGCAACCAAAAGACCTTCATTCTAAAGCAATTGTGGTAGACTGGCCTCCTCAAGGGAGGGTCCTAAAAGATAGTGAAGGCTTCTTATAACCCAGTCTCACACTCCCCACTACCTAGGGGGATCAGGCATCTGCCACTTATCAGTGGCCTGCTTTTGTCCCTAGACCTATATCACCGTAGTTTGTTATGAGTCACTCTATAGCACCATTTGTCTCCAGCTATTTTCTACATAACAAGGAATTTCCCCTTGTTATGTAGAAAATAAAAAAGCATTTGTTCTAGGCCTCTGGACTTAGCCTAGGCCCCCTTTGTTCAAGCTTTCAAATGTGGTGAGCTCTTTGCTCAGTCTGGGATTTCATTTAGAAAAGTAGGTCAAATTTCTTATTTCCTAGGTCTTCTGATATATTTGAACATGGCACCAATGTTTCTTTTAGTGTGAGTCCAAAGAATGACTAACCACAAAATCCACTGCTTTCCTCCAACTCTGGGGAGGAGGGATGGAGGCAAAAGAGAATGACGGCCATCCAGTCTCTACCCCAAACAATCCAGCTCTGGCCTTGCCAGCTTTTGGACAGACACAACTCCTTTTCTTAACCGCTCTCCTGAAATGCCAAATTGGTGTCATGAAGACAGTCAAGACAAGGAATAAGGGCCCTAGCCAGGAATCTACACCCCTAGAAACCAGGCTAGGTAAACATAAAGGTCAGTGGAATTCTCCCCCATCCTACTGGCTCTTTCCCTGGCTGCAGCTGCAGCCACTCAGCTTCAGTGGTTTTGCTCTCTGTTATGCCCTTCAGAAGCTCCTGTTTTCCTCAATCTGTCCACTGGCCTATTAGGACCTACAGTGCAGGGCCTGACCAGCTATCTGAGTGAGGTAAAGGCTGACTTCACAGCTCAGGAGTGGCAGCAAGTGCTAGCCTACCCATCTGTGCAGAGGAGGTTTATAAAATTAGAACCACCACCTTCAACAGGCAGGCAGCCGTGCACACGCTCCTCCATCCTTTCCCCCCAGGAGCTATGCAGAGGGGGGATTGTGGACCTGCTGCTGCTTAGCAGCACAACCCACCCCCACTGTGTATGCAGCCTGCCCCAACCCACCTGCTCCTGCACCTCTCTCAGAAAACGGCTTAGGGAGGAGGGGAAGGCCTACAGAAGGGAATTAAGTCTTCATTACCTCTGCCTTAGGAGGCAGGCATGATATTGATGCATGGAGATCAATCATGTTTTTCTTTTTTCTTTCTTTTTCCAAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAATCTCGGCTCACTACAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAAGCACCACCACCCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTCACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGTCGTAAGCCACCGCCCCGGCCCCCAAGACCAATCATTTCTTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCTTCCTGAGTAGCTGGGACTACAGGTGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATATGCCTGCCTCGGCCTCAAAAAGTGCTGGGATT
|
TATTGTCTTCTAAGAGGCCGTGGAGACAGGGCTGGACTTGTTTCCCTCAACTCGCCCCTTCTGTCCTACACAGCTAAAGCACACCCTTGTTTTCCCTGGGTTACAGACCATCCCCAACTGGTGACACATGCATTAGCCAGGACTAGGACACTCACTTGGGCTCGTGAGGAGGTCCGGACTGGTCGACCAACTTGAATTCAGCAGCAAAGCCATGGGAGCGGGCGTACTCCAAAAGGCCACCCACAGGGTTGGTGTTCAGGTATCTCACGAGCTCGCCAATCTTCCTGACCTTGTTGGGCATCATGGATTCCAAGTTATCAAGTGACTCTGAGATCATACCTTCAGGCTAAAGGAGAATCCATCAAACAGAGGAGCCATAAACACTTCAGGAAATGTTGAGGGAGTCACTGGCAATCTTAAACCACTCAGTTGCTAAAAATGACCTGTATCTTTTGAGTAGGAAAACGCCCTACCTGGTTATCAGAAGCCATGGAGTTGGTCGCCTCCCCATGCAGGGCCTTCATGGCTTCCTCTGCGGCCATCTGCTTTGCCACTTTCTTGCTGGGAGCACTCACACTGGGGAAAGTTTGGGCTCCCACTGCAACACAGTATTGGAACCTGACAGGAGATGAAGCACGTAGAAGGATTAAAATGGTTTTGACTGAGGAGCCTGACCTAGCCTCTGCCAGGCTGCCATCCTCCACTACTGGTAATTTCCTTGAACACATCACCTCTGTGCAGTCACATCTCATGCAGTCACTTCTGCCTTGAACAGCCAGTGTCTCTTAGCCTGGCTGACCCCTTTCAACATTTAAGCATCAACCTAGTTTCACCTCTTCCAGGAACACTTCTCTTGAACATGTGAGTCTATAGACCCACAGGCAGAGAGCTTCTCAGGTCCTGTACCTTTCTGTCCCACCAACAGTGAGTGACCTCCAAGCCGTGAACCTCCCTAGTGCTTATAGAGGAGATAGAGGGTGGGCCAGGAATTCCCTTTGAATTCCTAATCCCTAATTGTCTGCCTCACAAGCAGCAACCAGGACCTCAGAGCCCTCCTTTCCCCATTTTGAAACAGGAGAAATTGGTCAATCTGCCATCCCTGAGGAGGCAAGGAAGAAAATGTGTCTCTTTTTCTTTCTGAGAAAACCTCAGCTGGACAGAGGACACGTAGGACATACTTGGGTTCATGGGCAGGGCCTTCTTTGGACAGGAGACGGAATTCGCAGGAGTTCCCCAATTTGTGCATACACTCAAGCAGTGTGGTGACGGGGCTCTTCCCAGAAAAGAAGGATGTGGCTGAAGGGGTGGGGGTCTGGGACTCTGCAGTCTAGAGAAAATGAGAGACAAGAAGAAAACAAAACTAAGAAAACACTGGTTAGTCCATCACAGAAGAAGGGATGGGGATGGGGGACTTTATTCCCACCACCTGTCAAGGGGTTGGCTTCCCAAAGTTAAAGGGGCTGCTGGAGCTCTCATTCCGCATCTTCCAAGAGAGGAGATTGGCCTCAATAAACTTTCAGGTCTCTTTCAAGTCCGAAATTCTGTAAATCCAATTATGTTGGGACAGGAGCAGACAGAGGAGCTGGGTATGAGAGGAGGAAAGGTGGGCTGGCGAGATAGGGTAGAGGGAAGAGTGGGAAGCTGACTCCGAGATGGTGTCAGTTGTTTAGGCTGGGATTGCCTCAAGGGAGTCAGTTACAATCCAGACACTGACAGGGAACTGATCCTCCCAGATGGCAGGAGGACACCTACCTTCTCTGATTCTTTCTCTGTGGAATAGTGGGATGATTCTTCTGATTTTCCACTGTCCTTGGCTTTGGCTTCCTCTAGCAGAATTGTCATGGCTTTCATAGCTGCATCCTGCTTGGCCACTTTCTTGCTTCCAGCTTCAGCTGGGGGAAACTCTCGGCCATTGATGACAACCTGGAATTTAAATCTTGACGGAAAGTGATTAGATGTGTGAACAGGAGTCTAGGTCACTCCTTCTGCCTTCTCCAAAGAGACCTTCAACCTGGAATTTTCTGCTACGCTAAGGGGCTTTTCACTTGTGGAGGAGATGAAGGGTAGGCCAAGGAACTCCTTCCTACTCCTTAAGGCTCAGCCTGTCCTTTCTTTTTGTAAACAAAGCAGCCAGTGACTCTTTCCCCATAGCTCAGTGAAGCAAACATAGGCACAGATGATAGGAAACTAGCTCAGGGGAAACCCACTATCTCTTTAACAATGAATTAAGATAAAACCCACACACACAAAAATGATGAGCCAAAAATTACCATTATAGTCTTGTGAGCAACCAAAAGACCTTCATTCTAAAGCAATTGTGGTAGACTGGCCTCCTCAAGGGAGGGTCCTAAAAGATAGTGAAGGCTTCTTATAACCCAGTCTCACACTCCCCACTACCTAGGGGGATCAGGCATCTGCCACTTATCAGTGGCCTGCTTTTGTCCCTAGACCTATATCACCGTAGTTTGTTATGAGTCACTCTATAGCACCATTTGTCTCCAGCTATTTTCTACATAACAAGGAATTTCCCCTTGTTATGTAGAAAATAAAAAAGCATTTGTTCTAGGCCTCTGGACTTAGCCTAGGCCCCCTTTGTTCAAGCTTTCAAATGTGGTGAGCTCTTTGCTCAGTCTGGGATTTCATTTAGAAAAGTAGGTCAAATTTCTTATTTCCTAGGTCTTCTGATATATTTGAACATGGCACCAATGTTTCTTTTAGTGTGAGTCCAAAGAATGACTAACCACAAAATCCACTGCTTTCCTCCAACTCTGGGGAGGAGGGATGGAGGCAAAAGAGAATGACGGCCATCCAGTCTCTACCCCAAACAATCCAGCTCTGGCCTTGCCAGCTTTTGGACAGACACAACTCCTTTTCTTAACCGCTCTCCTGAAATGCCAAATTGGTGTCATGAAGACAGTCAAGACAAGGAATAAGGGCCCTAGCCAGGAATCTACACCCCTAGAAACCAGGCTAGGTAAACATAAAGGTCAGTGGAATTCTCCCCCATCCTACTGGCTCTTTCCCTGGCTGCAGCTGCAGCCACTCAGCTTCAGTGGTTTTGCTCTCTGTTATGCCCTTCAGAAGCTCCTGTTTTCCTCAATCTGTCCACTGGCCTATTAGGACCTACAGTGCAGGGCCTGACCAGCTATCTGAGTGAGGTAAAGGCTGACTTCACAGCTCAGGAGTGGCAGCAAGTGCTAGCCTACCCATCTGTGCAGAGGAGGTTTATAAAATTAGAACCACCACCTTCAACAGGCAGGCAGCCGTGCACACGCTCCTCCATCCTTTCCCCCCAGGAGCTATGCAGAGGGGGGATTGTGGACCTGCTGCTGCTTAGCAGCACAACCCACCCCCACTGTGTATGCAGCCTGCCCCAACCCACCTGCTCCTGCACCTCTCTCAGAAAACGGCTTAGGGAGGAGGGGAAGGCCTACAGAAGGGAATTAAGTCTTCATTACCTCTGCCTTAGGAGGCAGGCATGATATTGATGCATGGAGATCAATCATGTTTTTCTTTTTTCTTTCTTTTTCCAAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAATCTCGGCTCACTACAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAAGCACCACCACCCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTCACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGTCGTAAGCCACCGCCCCGGCCCCCAAGACCAATCATTTCTTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCTTCCTGAGTAGCTGGGACTACAGGTGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATATGCCTGCCTCGGCCTCAAAAAGTGCTGGG
|
benign
| 15,287 |
A mutation at chromosome position 154607872 on chromosome 1 in gene ADAR (adenosine deaminase RNA specific): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
CTCCTATTAGCTCTTTGAGTGACCTTGGGAAAAAAAAATTGTGTTTCAAAGTGGCTAGAGTCAGTTAAAAGCTAAATGTTTTTTAAACTGCTACTCTTGGCCCAAATCTGGAAAATATTTTAATGTCTGTCTATAGAAGAATTAAATTATGAAACATTCATTCTATGGAATAGTACTCACACGGTTATTTTTTTTCTTGTGAGACGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCAGGCTGGAGTGCAGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGATGGTGTCGATCTCCTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCAGTTATTTTATTTTTTTAAAATGTGTCATATCTATTTGTATTCACCTGGGGATAATTTAGGAATCATATAATGTTCAATAAAACAACAAAAAGTTGTAGAATAGTATGTACATTATAATTTTTTTCCCTAAACAAAAAGAGAAAATCCATGAATGTGTATGTGTGCGCACAATGGAATGAACACAGAGAAAAGAAAGGAGATGTAAGTTTGCTAAGGATATCTTAGGGCAGTAGGGTTAGAGGGAGAGGAGGAGATTATTAATCTTTCTTTTTGCCCCCCTTAAATCCCCTAAACACCAAGCCACCGTTGAGTACAGCCATTTGGAAAGCTACGGAATAGGAGAGCAAGAAAGTGAGCAAGCAACCCACAGTGATCCTTTCTAAATCTCTCAGCATCACCTCTATGCAAATTACATAACAACTCATTTAACATTCATTGCCTCCCAGATTTCACTTTAATCTGGTCTCACATATTTAGGATCAAGAGATAAGCACTACCCCCTTTGCCTTTACCACACAGGTTCCACAGTGCAATACACTGACACCTGTGCAGAAATGCTTTTCCTTCAAGTTAGGCGTCCTTAATCCTTTCAAAGGAGTGCTTAAAAAAAAAAAAATATATATATATCTTAACAAAATTGAGGTATATAATTTAGATACAGTAAAATTTATCCTTTTAAGTGTATAAATCTATGAATTTCGACAATCGCCACCACAATCAAGATATAGAACATTTCTATTTCCCTAAAAAGCTTTTTCATGCCACTCAACAATCAATTTCTTCCACGATACCCAGTCCCTGGCACCCACGGATCCACTTTCCATCCCTATAACTGTGGTTTTTTTTTTCCAGAATGTCATATAAATGGACTCATACAGTATGCAGCCTTTTGAGTCTGGCTTCTCGTGCTTAGCATAACGCACTTGCGAGTCACCCGTGTTGTTACTTGTAACAGTATTTCCTCTTCACTACTAAGCAGTATCCCATTATGTGGATGTATTTCAGTTTATCTGTTAACCTGCTGAAGGCCATTTGTGTTTTCCCAGTTTTTAGCTATAAAGTGGTTAACAAGCTTTCTCCTACAGCTTAAGTGCCATTTTTAACTCCCAGAAGGCCTTCAGGAGGTGGATAAGGTGAGCTGAGGATAGTGTGCGCTGCTCAAAGTCCGAACGTTGTTCAAGTGGGGCTAAAGCGGGGGTAGGGGGTTCCACAAGGGGCCCTAGCAGAAAGGGAGACGATGTGTCTGCCTTGACATGGGCTCAGGCCTTCCTACTCAGACGGGGGCGCATTTTCCCCCAAGCCCTCTTCACGCACTGCTCCATTCTGCAGAATTAATGAGCAGGATACAAATTCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACTACACACACACGCACACACACACACACACACTCTCACAAGACGCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACGACACACACCCACACACACACACTCACAAGACGCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACGACACACACACACACACTCTAACACTCACAAGACGCACACGCTACGCACTGCAACACAAAGCCTGTGAGGTTGTAAACGAACCCAGACGGCGGCGAAGGTCCAAGGCCGGCCCGGCTTACCTGCCGCGGATTCATTGCGCCCGCGAGGCATTGCCCGGCCCGACCCGCCGGCGGCACGACCCTGGCCCGACCGCTGGGCCGCGCCAGCCCCTCGAGGCCCCCACGCCTCCGCTACTCCGCACTGGAAGTGGCCCCGGGGCGTCGGCACGGGAAACTCCGCGGGTCTGCGCGCCGGGCCCAAGATGGCTCCGGTTCAATTTCGCTTTCGTTTCCTCGGAAAGCCTTCCCCTCCGGAAAGTTTGGCCAAGAGGAGGGGCTTGAGCAAATCTTGCGCCACGCTTGGTTTCAGGCCGGTTACAAGTCGAACCCCTCCGCTGCATGAGAACTACGGAAGGTACTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCCCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTACGGAGTAGCTGGGATTACAGGCGAGCGCCATCACTCCTGGCTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAAGAACAGGGTTTCACCACGTTAGCCAGGGTGGTCTCGAACTCCCGGCTTCAAGAGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTCAGCCCCCGCGCCCGTCCGGTACTGTTTAGGAAAACCGCCGTTTCAGTACTGAGCTCCTAATTCCCCGCACAGGCCGTAGGCAGGAATACACGAATAGAGCAAAAGGAAAACAAAGGCACACAAAACCTCAGGCCAGAAACAGCATGACGCCCGGTCCTCCCTCTCTCCGCGCCAGCGCGGTGGTGGCCGCGTCTCCAATGTGGAGGGGGGGGGGAGGGGATGGGCGGGAGCGCAGATCTCGTCAAACGACCAAGGTCCCCACCGTGGGACCTTGTTAATGCTCCTACTATGTTATAAACTTAAGCAAGCAGATGCCAGCCAGTAAAAAGTACCAAGAGTAGCAACAGCAGCAGTGAACAATTTAGGATCTAGGTCATAAAAACTACCCCACCAGGCAAATGGTTAAGTACTTTACATGTATTATCTCCCTTAATCTTCACAACAGCCCTCCAAGGTAGGCATTATTCCCACTTTGCAGGTGTAGAAACCGAGGCTTGACTAAGGCCACGCTGCTGCCAAATCCAGGTCTGAAGGCTTTAGTAAAGCTCAGTCTTCAGCGCTTCTCTACACTCATTCAAATTACACCATTACTTTCAAAAAGATAACTTTTGTTATCTAGAGGGACAAAAGTCAAATTTGCTTCATGGTCAGGCTTCTCTAACTGCTGGATTTTTGTTCAAGGTATCTGGGAAACGATTATTCTAGGGTTCAACACCATCCTCACCTGTGAGAATGTTCTTTCCCTGTGTTTAATCTTAATTTTACCCCCATGCTTATGAAATTACAAGGCAGTCCCTTTATAGCAGTATCTCCAGCTGATGCCCTTTCATGGTGTTAGTCACTCCAAATTAACATTCCCTTGCAGGCTGGGCTCTGTCTTCCTTCTGGGCCTTTGCACATTCTATTCGTTGGCCTAGCATGCACCTCCTCCACGGCTTCCCGTGAATCAACCTTTCAAATTTACAAGGGAGGCCTTCCCCACAGCAGGTAGGGGGAGAGGAGGGGGAGCAGGTGCTGTTTGTGGTTTCCTACTCCATGCTTCTCGAGTTACTGGGCGCCTACCCCTAATAGGGCACTTGCACACTGCGCTAAAAACGCCCCATTCGATCATTTAACAAAACTTTACTAAGCACCTAATTATGTGGCAGATACTGTGTTAAGCACCCAGGATATGACACAAATAAGAGCGCCATCCTTTAGCTAGTCTGCTAGGGAAGATGGATGCCTCAGTAATCACAATTATCATGTACTTCTTGTTCATATATCTGCCTCTAGAATTGTCAAGTCATCTCCTC
|
CTCCTATTAGCTCTTTGAGTGACCTTGGGAAAAAAAAATTGTGTTTCAAAGTGGCTAGAGTCAGTTAAAAGCTAAATGTTTTTTAAACTGCTACTCTTGGCCCAAATCTGGAAAATATTTTAATGTCTGTCTATAGAAGAATTAAATTATGAAACATTCATTCTATGGAATAGTACTCACACGGTTATTTTTTTTCTTGTGAGACGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCAGGCTGGAGTGCAGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGATGGTGTCGATCTCCTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCAGTTATTTTATTTTTTTAAAATGTGTCATATCTATTTGTATTCACCTGGGGATAATTTAGGAATCATATAATGTTCAATAAAACAACAAAAAGTTGTAGAATAGTATGTACATTATAATTTTTTTCCCTAAACAAAAAGAGAAAATCCATGAATGTGTATGTGTGCGCACAATGGAATGAACACAGAGAAAAGAAAGGAGATGTAAGTTTGCTAAGGATATCTTAGGGCAGTAGGGTTAGAGGGAGAGGAGGAGATTATTAATCTTTCTTTTTGCCCCCCTTAAATCCCCTAAACACCAAGCCACCGTTGAGTACAGCCATTTGGAAAGCTACGGAATAGGAGAGCAAGAAAGTGAGCAAGCAACCCACAGTGATCCTTTCTAAATCTCTCAGCATCACCTCTATGCAAATTACATAACAACTCATTTAACATTCATTGCCTCCCAGATTTCACTTTAATCTGGTCTCACATATTTAGGATCAAGAGATAAGCACTACCCCCTTTGCCTTTACCACACAGGTTCCACAGTGCAATACACTGACACCTGTGCAGAAATGCTTTTCCTTCAAGTTAGGCGTCCTTAATCCTTTCAAAGGAGTGCTTAAAAAAAAAAAAATATATATATATCTTAACAAAATTGAGGTATATAATTTAGATACAGTAAAATTTATCCTTTTAAGTGTATAAATCTATGAATTTCGACAATCGCCACCACAATCAAGATATAGAACATTTCTATTTCCCTAAAAAGCTTTTTCATGCCACTCAACAATCAATTTCTTCCACGATACCCAGTCCCTGGCACCCACGGATCCACTTTCCATCCCTATAACTGTGGTTTTTTTTTTCCAGAATGTCATATAAATGGACTCATACAGTATGCAGCCTTTTGAGTCTGGCTTCTCGTGCTTAGCATAACGCACTTGCGAGTCACCCGTGTTGTTACTTGTAACAGTATTTCCTCTTCACTACTAAGCAGTATCCCATTATGTGGATGTATTTCAGTTTATCTGTTAACCTGCTGAAGGCCATTTGTGTTTTCCCAGTTTTTAGCTATAAAGTGGTTAACAAGCTTTCTCCTACAGCTTAAGTGCCATTTTTAACTCCCAGAAGGCCTTCAGGAGGTGGATAAGGTGAGCTGAGGATAGTGTGCGCTGCTCAAAGTCCGAACGTTGTTCAAGTGGGGCTAAAGCGGGGGTAGGGGGTTCCACAAGGGGCCCTAGCAGAAAGGGAGACGATGTGTCTGCCTTGACATGGGCTCAGGCCTTCCTACTCAGACGGGGGCGCATTTTCCCCCAAGCCCTCTTCACGCACTGCTCCATTCTGCAGAATTAATGAGCAGGATACAAATTCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACTACACACACACGCACACACACACACACACACTCTCACAAGACGCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACGACACACACCCACACACACACACTCACAAGACGCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACGACACACACACACACACACTCTAACACTCACAAGACGCACACGCTACGCACTGCAACACAAAGCCTGTGAGGTTGTAAACGAACCCAGACGGCGGCGAAGGTCCAAGGCCGGCCCGGCTTACCTGCCGCGGATTCATTGCGCCCGCGAGGCATTGCCCGGCCCGACCCGCCGGCGGCACGACCCTGGCCCGACCGCTGGGCCGCGCCAGCCCCTCGAGGCCCCCACGCCTCCGCTACTCCGCACTGGAAGTGGCCCCGGGGCGTCGGCACGGGAAACTCCGCGGGTCTGCGCGCCGGGCCCAAGATGGCTCCGGTTCAATTTCGCTTTCGTTTCCTCGGAAAGCCTTCCCCTCCGGAAAGTTTGGCCAAGAGGAGGGGCTTGAGCAAATCTTGCGCCACGCTTGGTTTCAGGCCGGTTACAAGTCGAACCCCTCCGCTGCATGAGAACTACGGAAGGTACTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCCCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTACGGAGTAGCTGGGATTACAGGCGAGCGCCATCACTCCTGGCTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAAGAACAGGGTTTCACCACGTTAGCCAGGGTGGTCTCGAACTCCCGGCTTCAAGAGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTCAGCCCCCGCGCCCGTCCGGTACTGTTTAGGAAAACCGCCGTTTCAGTACTGAGCTCCTAATTCCCCGCACAGGCCGTAGGCAGGAATACACGAATAGAGCAAAAGGAAAACAAAGGCACACAAAACCTCAGGCCAGAAACAGCATGACGCCCGGTCCTCCCTCTCTCCGCGCCAGCGCGGTGGTGGCCGCGTCTCCAATGTGGAGGGGGGGGGGAGGGGATGGGCGGGAGCGCAGATCTCGTCAAACGACCAAGGTCCCCACCGTGGGACCTTGTTAATGCTCCTACTATGTTATAAACTTAAGCAAGCAGATGCCAGCCAGTAAAAAGTACCAAGAGTAGCAACAGCAGCAGTGAACAATTTAGGATCTAGGTCATAAAAACTACCCCACCAGGCAAATGGTTAAGTACTTTACATGTATTATCTCCCTTAATCTTCACAACAGCCCTCCAAGGTAGGCATTATTCCCACTTTGCAGGTGTAGAAACCGAGGCTTGACTAAGGCCACGCTGCTGCCAAATCCAGGTCTGAAGGCTTTAGTAAAGCTCAGTCTTCAGCGCTTCTCTACACTCATTCAAATTACACCATTACTTTCAAAAAGATAACTTTTGTTATCTAGAGGGACAAAAGTCAAATTTGCTTCATGGTCAGGCTTCTCTAACTGCTGGATTTTTGTTCAAGGTATCTGGGAAACGATTATTCTAGGGTTCAACACCATCCTCACCTGTGAGAATGTTCTTTCCCTGTGTTTAATCTTAATTTTACCCCCATGCTTATGAAATTACAAGGCAGTCCCTTTATAGCAGTATCTCCAGCTGATGCCCTTTCATGGTGTTAGTCACTCCAAATTAACATTCCCTTGCAGGCTGGGCTCTGTCTTCCTTCTGGGCCTTTGCACATTCTATTCGTTGGCCTAGCATGCACCTCCTCCACGGCTTCCCGTGAATCAACCTTTCAAATTTACAAGGGAGGCCTTCCCCACAGCAGGTAGGGGGAGAGGAGGGGGAGCAGGTGCTGTTTGTGGTTTCCTACTCCATGCTTCTCGAGTTACTGGGCGCCTACCCCTAATAGGGCACTTGCACACTGCGCTAAAAACGCCCCATTCGATCATTTAACAAAACTTTACTAAGCACCTAATTATGTGGCAGATACTGTGTTAAGCACCCAGGATATGACACAAATAAGAGCGCCATCCTTTAGCTAGTCTGCTAGGGAAGATGGATGCCTCAGTAATCACAATTATCATGTACTTCTTGTTCATATATCTGCCTCTAGAATTGTCAAGTCATCTCC
|
benign
| 15,303 |
Does the variant on chromosome 1 at location 154869723 affecting gene KCNN3 (potassium calcium-activated channel subfamily N member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATG
|
benign
| 15,311 |
Regarding the variant found on chromosome 1 at position 154869723 in gene KCNN3 (potassium calcium-activated channel subfamily N member 3): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGT
|
benign
| 15,314 |
Evaluate if the mutation on chromosome 1 at position 154869723 in KCNN3 (potassium calcium-activated channel subfamily N member 3) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACANNN
|
benign
| 15,315 |
Does the variant on chromosome 1 at location 154869723 affecting gene KCNN3 (potassium calcium-activated channel subfamily N member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACANNNNNNNNN
|
benign
| 15,316 |
Is the genetic mutation found on chromosome 1 at position 154869723, within the gene KCNN3 (potassium calcium-activated channel subfamily N member 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACANNNNNNNNNNNN
|
benign
| 15,317 |
Does the variant on chromosome 1 at location 154869723 affecting gene KCNN3 (potassium calcium-activated channel subfamily N member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA
|
ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACANNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 15,318 |
A genetic variant on chromosome 1, position 154984085, affects the gene FLAD1 (flavin adenine dinucleotide synthetase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
benign
|
AGAGTAAAATTTGGCAAGGTGTGGTTTACCAGTCCTACAAAGAATGAATTCGGCCCGGCGCGGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAAAAAATGAAAATAAAAAAATTTTTAAAAAAAAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCGTCTCAAAAAAACAAAGAATGAATTCGGGCCCTTACCATTCAAAATGTAGTCCATAGAGCAGTGGGATCACCATCACATGGGAACTAGCTAAATGCAGATCTCAGGCCCCACCCAAACCTACTGAATCAATCTGCATATGAAAAGATCCCCAGATTATTGTTGGAAAAAAGTTTAAGATGTACTTTTAGAACAAAGGCAACTGAAATGGGGGTAAGCTCGGATGATGTGAGGATCCAGAGTAAACATGTAAGGCACTCCCTATTCGCTGCCTCATTTGCACCTACAAGACCAATTACTGGGAAAGGTCATTTGAACTAAGCACCATCTGGAGCAAGGTGGAGGAAGAGAGGGTTTTTGGACTCTTTCTTGTCAAAGAGATTTAAGTAATTCGTTTTGTCTACTATACTAGAGATAAATTAAGGTTCCACACATCAAAAGCTCACCTACTCCAGGGTCTTCATATCCGACAGACAGTGGTAATAATCTTTCTCGGTGTCCCTCCAACTTCCTTCTGCTATAAATAAGATGCTTTCTCACTCCAGTAAAAGCCCTTAGCCTAGTGTTAGAGTCACGGTGAATGAAAACAGCTTAAACCATGGCTAACTGACCCATTAAACAAAACAAAACAAAGCAACACATGCATAACAATTATTTGAATCCAGCACCAGAAACTCCCCGAGGGCCTTACAGCACCTTTAACTACGGCTCCTTTCCCGCCCTAAACTCCCGAGGTCCCGCCCCCGACCGTGGGCTAAGGTCCGGCCCCCGTATTTCCGGGCGAGAAGTGACCACGTGGTTGTCGCCTATAACAATCCGGCCCTGCTCCCATCCACTGGCTAAAGCCTGAGAGCGACAGTTGAATACACCAATGGGACCCTGGAAGAGTCTAAGCGACAGCCAAAATCACCATTCAATGTCAGCTAGGTGCAAGGCGGGACTTTAAGTACGGAAGCTGCCCCGGGACATGAGGAAAGGAACAAGGGAAAGAGCCGGTGAAGGGGCAGAACAGGCAGGTGAGAGTCTAAGAGGGCTCAGTAATCTGAAGCTTGGTGGGAAGAAGGGATTCTGGGCTAGAAAGGGTGCAGAAGCCTGAAGTAGAAAGAGACGGGATTTTGGTCCGGGGTGGAGAGCGAATGCATTGAAAAGGGCCAAGGCCCAGGATAAGGTAGACATTTAAAGGGGTACGGATGCCCAAGGTAGAGCAGACACTTGAGGAGACCAGCTCAGCAAACGGAAGACACTTAAAGTGGTAGGTTCTCAAGAGAGAAGAAGTTTTTAAGACTAGAGCTAAGCAAGACATTTAAAAGGACATGGGTTGGGATTTGGGAACACGTTTATTCCAGAGGCAGGAACAAAGGAGTCGCTTGTCAAGGATCTGGTTAGAGAAGACTAGGGTCTTCCTCGAAGGAAGCACGCGCACGCCTGCTCTCCCCCATTGTCTTTTCTGGCTTCTCCAGGTTCCCTCGACCCAGGACCCCCTGTTCCCAGGCTATGGCCCCCAGTGCCCTGTAGACCTGGCAGGCCCCCCGTGCTTGCGACCCCTATTTGGGGGTCTGGGTGGCTACTGGAGGGCCTTGCAGAGGGGCAGAGAAGGCAGGACCATGACATCTAGGGCCTCTGAACTTTCTCCGGGGCGCAGCGTGACGGCTGGCATCATCATTGTTGGAGATGAGATCCTTAAGGTGTGTCTGGGACAGAAAAGGGGGGAGGGCGCTGCGTTCTCCTGTCCTTAAGGGCCTGCTGCACATCCCTCCATGGAAGGAGGTGAAACAGGGTGGGAGCCTCTTTGCTGCAGTAGGATCCTGGAGTGAATCCAGCATATTGGAGGAAAATTAACCCTCATTCTTTCAATTACTCTACTGAAAAACTTGTAGCAAAGTCCCTACAATTTTTCAACCTGAGAGAGCTGATTGAAAAAAAGAAAAATAAAAAGGTCATTGCAATTTACCAAGCAGTATGGTAGAGGGCAGAGGAGCTACACAACAATGACAGGAAGCCCCTCGAGTAGAGGAGGTACAGGTGTGTGTATTGTATATTTAAGAGTTTTGGCCGGGTGCGGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGTTCAGGAGTTCGAGACCAGCCTCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAGTTTTACCCAGCCTTTTTGGAAATGACTCAAGGTACTCAGCGTAGTGGATAAGTGAGCTAGAAGGAAGGTACTAGAAGGGATGAATCCCCTCCGAATGATCAGGAAAGTCTTACTAGAGGACATAACAGATGACACGGGTTTTTTTGTTTTTGAGACAAGATTTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCACAGCTCACTGAAGCCTCCATCTTCCAGGCTCAAGCAGTCCTCCTGCCTCAGCATCTGGAGTTGCTGTGACTACAGGTGTTAGCCGCCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGAAACGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACACCTTGCTGGGATTATAGGCATGAACCACTGAGCTTGGCCAAATGTCAAGTTTTAATAATAATCTTTTTTAATATTCTTTGTAAATTTGTGTTTTTTTTGTTTTTTTTGTTTTTTTTTTTTAGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCATTGGTGGGATCTCAGCTGACTGCACCTCCACCTCTCGCGTTCAAGCAGTTCTCATGCCTCAGCCACCCGAGTAGTTGGGATTACAGGCATGAGCCACTGCACTCAGCCTTAATAGACCCTTTTTTTTTTTTTAGACAGAGTCTTGTTCTGTTGCCCAGGTTGGAGTGCAGTGGCGTGATCAATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTGGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACCTCACCTGGCCCTGACCCCAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACCGTAACCTCCGCCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAAGCATGGGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGAGGCATGAGCCACTGCGCCCGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACGGAGTTTCGCTCCTGCTGCTCACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTA
|
AGAGTAAAATTTGGCAAGGTGTGGTTTACCAGTCCTACAAAGAATGAATTCGGCCCGGCGCGGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAAAAAATGAAAATAAAAAAATTTTTAAAAAAAAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCGTCTCAAAAAAACAAAGAATGAATTCGGGCCCTTACCATTCAAAATGTAGTCCATAGAGCAGTGGGATCACCATCACATGGGAACTAGCTAAATGCAGATCTCAGGCCCCACCCAAACCTACTGAATCAATCTGCATATGAAAAGATCCCCAGATTATTGTTGGAAAAAAGTTTAAGATGTACTTTTAGAACAAAGGCAACTGAAATGGGGGTAAGCTCGGATGATGTGAGGATCCAGAGTAAACATGTAAGGCACTCCCTATTCGCTGCCTCATTTGCACCTACAAGACCAATTACTGGGAAAGGTCATTTGAACTAAGCACCATCTGGAGCAAGGTGGAGGAAGAGAGGGTTTTTGGACTCTTTCTTGTCAAAGAGATTTAAGTAATTCGTTTTGTCTACTATACTAGAGATAAATTAAGGTTCCACACATCAAAAGCTCACCTACTCCAGGGTCTTCATATCCGACAGACAGTGGTAATAATCTTTCTCGGTGTCCCTCCAACTTCCTTCTGCTATAAATAAGATGCTTTCTCACTCCAGTAAAAGCCCTTAGCCTAGTGTTAGAGTCACGGTGAATGAAAACAGCTTAAACCATGGCTAACTGACCCATTAAACAAAACAAAACAAAGCAACACATGCATAACAATTATTTGAATCCAGCACCAGAAACTCCCCGAGGGCCTTACAGCACCTTTAACTACGGCTCCTTTCCCGCCCTAAACTCCCGAGGTCCCGCCCCCGACCGTGGGCTAAGGTCCGGCCCCCGTATTTCCGGGCGAGAAGTGACCACGTGGTTGTCGCCTATAACAATCCGGCCCTGCTCCCATCCACTGGCTAAAGCCTGAGAGCGACAGTTGAATACACCAATGGGACCCTGGAAGAGTCTAAGCGACAGCCAAAATCACCATTCAATGTCAGCTAGGTGCAAGGCGGGACTTTAAGTACGGAAGCTGCCCCGGGACATGAGGAAAGGAACAAGGGAAAGAGCCGGTGAAGGGGCAGAACAGGCAGGTGAGAGTCTAAGAGGGCTCAGTAATCTGAAGCTTGGTGGGAAGAAGGGATTCTGGGCTAGAAAGGGTGCAGAAGCCTGAAGTAGAAAGAGACGGGATTTTGGTCCGGGGTGGAGAGCGAATGCATTGAAAAGGGCCAAGGCCCAGGATAAGGTAGACATTTAAAGGGGTACGGATGCCCAAGGTAGAGCAGACACTTGAGGAGACCAGCTCAGCAAACGGAAGACACTTAAAGTGGTAGGTTCTCAAGAGAGAAGAAGTTTTTAAGACTAGAGCTAAGCAAGACATTTAAAAGGACATGGGTTGGGATTTGGGAACACGTTTATTCCAGAGGCAGGAACAAAGGAGTCGCTTGTCAAGGATCTGGTTAGAGAAGACTAGGGTCTTCCTCGAAGGAAGCACGCGCACGCCTGCTCTCCCCCATTGTCTTTTCTGGCTTCTCCAGGTTCCCTCGACCCAGGACCCCCTGTTCCCAGGCTATGGCCCCCAGTGCCCTGTAGACCTGGCAGGCCCCCCGTGCTTGCGACCCCTATTTGGGGGTCTGGGTGGCTACTGGAGGGCCTTGCAGAGGGGCAGAGAAGGCAGGACCATGACATCTAGGGCCTCTGAACTTTCTCCGGGGCGCAGCGTGACGGCTGGCATCATCATTGTTGGAGATGAGATCCTTAAGGTGTGTCTGGGACAGAAAAGGGGAGGGCGCTGCGTTCTCCTGTCCTTAAGGGCCTGCTGCACATCCCTCCATGGAAGGAGGTGAAACAGGGTGGGAGCCTCTTTGCTGCAGTAGGATCCTGGAGTGAATCCAGCATATTGGAGGAAAATTAACCCTCATTCTTTCAATTACTCTACTGAAAAACTTGTAGCAAAGTCCCTACAATTTTTCAACCTGAGAGAGCTGATTGAAAAAAAGAAAAATAAAAAGGTCATTGCAATTTACCAAGCAGTATGGTAGAGGGCAGAGGAGCTACACAACAATGACAGGAAGCCCCTCGAGTAGAGGAGGTACAGGTGTGTGTATTGTATATTTAAGAGTTTTGGCCGGGTGCGGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGTTCAGGAGTTCGAGACCAGCCTCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAGTTTTACCCAGCCTTTTTGGAAATGACTCAAGGTACTCAGCGTAGTGGATAAGTGAGCTAGAAGGAAGGTACTAGAAGGGATGAATCCCCTCCGAATGATCAGGAAAGTCTTACTAGAGGACATAACAGATGACACGGGTTTTTTTGTTTTTGAGACAAGATTTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCACAGCTCACTGAAGCCTCCATCTTCCAGGCTCAAGCAGTCCTCCTGCCTCAGCATCTGGAGTTGCTGTGACTACAGGTGTTAGCCGCCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGAAACGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACACCTTGCTGGGATTATAGGCATGAACCACTGAGCTTGGCCAAATGTCAAGTTTTAATAATAATCTTTTTTAATATTCTTTGTAAATTTGTGTTTTTTTTGTTTTTTTTGTTTTTTTTTTTTAGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCATTGGTGGGATCTCAGCTGACTGCACCTCCACCTCTCGCGTTCAAGCAGTTCTCATGCCTCAGCCACCCGAGTAGTTGGGATTACAGGCATGAGCCACTGCACTCAGCCTTAATAGACCCTTTTTTTTTTTTTAGACAGAGTCTTGTTCTGTTGCCCAGGTTGGAGTGCAGTGGCGTGATCAATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTGGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACCTCACCTGGCCCTGACCCCAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACCGTAACCTCCGCCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAAGCATGGGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGAGGCATGAGCCACTGCGCCCGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACGGAGTTTCGCTCCTGCTGCTCACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTANN
|
benign
| 15,327 |
A mutation at chromosome position 154988128 on chromosome 1 in gene FLAD1 (flavin adenine dinucleotide synthetase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
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pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency', 'Myopathy_with_abnormal_lipid_metabolism']
|
CACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAGGCAATTATCTCACCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACCCGCCACCACGCCTGGCTAATTTTTGTGGGGTTTTTGTTTGTTTGTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGACTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATTTTGGCCAGGCTGGTGACCCCTATATTTTAAGTGCCTACTAGAGTCTGGTAGTGTCCTATACATCACATATATGTGATTTTACTAATCTTCACAACAACCCCACACAAAAATCCCACGAAGTTGGCACTTTTTTTCTTCTTTAAAATTTTATTTTTCTGTGTGCATTTGTTTTATAAACGGGGTTCTCGCTATGTTAAACAGGCCAGCCTCAAGCAATTCTCCCACATCAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCAACCTTGCCCAGCCCCCCACCCTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCACTGTCGCCTAGGCTAGAGCTAATTTTTTGTATTTTTTTGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCCACCTCAGCCTCCAAAAATGCTGGGATTACAGGCGTGAGCCACCACACCTGGTCGGCAAAAAATCCCAATTGATGAAACTGGGGGTCAGAGAGGTTGAGAAACCTGCCCAGGGTTACATACCTAGGAAGTTGTAGAGATGGGATTCCAGCCTAATGCCTGATGCTCCCTTACTCCAAAACACAGACCCTTTTTTTTTTTTCCTTTGGTGACAGGGTCCCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGTCTCTGCCTCCCAGGCTCAAGCAGCCCACCCACTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACCACGCCCCGCTAATTTTTGTATTTTTTTGTAGAGATGGGGTTTTACCATACTGTGCCGGTTGGTCTCGAACTTCTGAGCTCAAGCGAGCCACCCCACTCCACCTCCCAAAGGGCTGGAATTACAGGCATGAGCCACCATGCCCGGCCATCAGAACACAGACCCTTAACCACTAAACCCTTTGTAGACAATTAGAGGGAGATGGGGCTGGAAAAGAAGATAGGGTATACGCCACAGACAGCCCCAAATACTCTGCAAAGGAATTTGAACTTTCTTCTGTATACAGTTGGAAACAACAAATGGCTTTTGAGTCCAAGAGTGATGCAATCACAGTGACGCATTAAAACGGTTACTCCGGAGACATCAGAGCACTGTGGCTGGAGGCTGGGAGCCTGGCCAGGAAGCTGTCGCCATTGTCCAGGTGAAAGGTGCTAAGGACCTGCTTGGTGGCAGTGGGGACAGAAAGAAGAAAGCAGGCCAGGCGTGGTGGCTCACACCTATAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGACCAGGAATTCAACACCAGCCTGGGCAACATGGCAAGACCCCATTTCTACAAAAAAAATTTAAAATGAGCTGAATGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGGGGTGGCCCTTGAAGCCAGGAGGTTGAGGCTGCAGTGAACTGTGACTGAGCCACTATACTCCAGCCTGGGTGACAGAGACCCAGCTTTAAAACCAAACAAATGGATTTTCCCACTCTTGTGTCCAGTCCAGGCCCCTCAGCAGCCTGAGGTGGTGTCCTTCAAAGAGCAGAGCACTGCATCATCAGGTGGATGCAGCCATCATCTTCAACCCCTCCCCTTCATCCCTACAGTACTGATGGCCTCATCTTCCCCTTCAACCCCCAGGGACACACTCAGGACACCAACACCTTCTTTCTGTGCCGGACACTGCGCTCCCTAGGGGTCCAGGTTTGCCGAGTCTCAGTTGTACCTGATGAGGTAGCCACCATTGCAGCTGAGGTCACTTCTTTCTCCAACCGCTTCACCCATGTCCTCACAGCAGGGGGCATCGGCCCCACTCATGATGATGTGACCTTTGAGGCAGTGGCACAGGCCTTTGGAGATGAGCTGAAGCCACACCCCAAGTTGGAAGCAGCCACCAAAGCCCTAGGAGGGGAAGGCTGGGAGAAGCTATCATTGGTGCCCTCCTCTGCCCGCCTGCATTATGGCACAGATCCTTGCACTGGTCAACCTTTCAGATTCCCTCTGGTCTCCGTCCGAAACGTCTACCTCTTCCCAGGCATTCCAGAGCTGCTGCGGCGGGTGCTGGAGGGGATGAAGGGACTATTCCAAAACCCAGCTGTTCAGTTCCACTCAAAGGAGCTATATGTGGCTGCTGATGAAGCCTCCATCGCCCCCATTCTGGCTGAGGCCCAGGCCCACTTTGGACGTAGGCTTGGCCTGGGTTCCTACCCTGACTGGGGCAGCAACTACTATCAGGTGAAGCTGACTCTAGACTCAGAGGAAGAAGGACCCCTGGAGGAATGCTTGGCCTACCTGACTGCCCGTTTGCCCCAGGGATCGCTGGTCCCCTACATGCCCAACGCTGTGGAGCAGGCCAGTGAGGCTGTATACAAACTCGCTGAATCAGGTAGGGACCTTATGGAGGAGGGGCATTATGCCCAAAGCCATTGGTGGCACCCCAGATCTCAGTAATGCAGGGGCTGTTGGGTGCTTCCTGCAAATCCCTGAGAGGGCAGAAGATAGCTTCTGTTAATTCATTATTCTTCCAATAAATGTTGATTGAGTACCTATTTTCATCAGCACTGTGCTAGGTGTTGGGGATATGGCTCAATAGGATAATGTATGCCCTGCTCTTATGGACCAGTGTTTTAACAAAAAAAGATGGACATTAAACAGGTGATCCTGCATGGGGTGATGAAAGGAGTGATCTCCCACAGCAGGGAGATCAGCCTTGATCTGGGGTCAGAGAAGGCCAAATGACATAAACTGAGTGATAAGGAGGATTTGATCAGTTCAGTAGGTGGGCAAGAGCCAACAGTATGAATGAGGGCCTGCAAGGAAGCAGCATGGGGTTAGGGAATGGAAGGAAGCCCACACCCCACACCCCCTGCTACAGAGGAATGACACTGAGGCTACTGTGAGGTGTGGCTGGGTGGCAGATGGCAGGGCAGGTCAGGGGCAGACTGCAGGGCCTAGCGGGCAGCATGAAGGAGTTTGGACTTTATCCTCAGAACACTGGGAAGATATTGAAGGGTTTAAGCAAGGGCAGCATGCCTTCACTCCCCTTTGATAGCCATATGTGTCCATCTGATGCCCTCTTCCCTGCCTGCTTGGCAGGGTCTTCTTTGGGGAAAAAGGTGGCAGGTGCCCTACAGACCATTGAGACCTCCCTGGCTCAGTACAGCCTCACCCAGCTCTGTGTGGGCTTCAACGGGGGCAAAGACTGCACTGCCCTCCTGCACCTCTTCCATGCAGCTGTGCAGAGGTGAGCCTGCCCCCGGGAGACAAGACCCCTGATCTGTTTCTCCAGTTCCACATCCCAGAAAGCAAGGAGAAAGGGGGTGTACAGGTGGAGTTCAAGAGGGAGATAGTCATGGTGACCTCTCAGTTCCATTCTCCCACCATATTGAGTATATGATATGTGCCTGGCCTTGTGTATGGATGTGCAGGCCACTATCCCTGACGACAGGGAGGTCACAGTCCTGCTGGGGAGATGAGAGATTTACATACCTGAACCAGGGATGCGTGCTTAGATTTGAGAGGTGAAAGGTCAGAGTGGGCTTCCCAGAGGAAGTGGGTCTAATGGATGGAAAGGACAAGGAAAAGGGAGAAGGGGTGAGAGTCTGTCCTAGGGGCCAACGAGAACAGTGAGCTGTTTCAGGGGAGCCATTTCCTTGTCCATGCTCACAAGCCTGTGGATTCTTCCCCCTCTGCAGGAAATTACCTGATGTTC
|
CACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAGGCAATTATCTCACCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACCCGCCACCACGCCTGGCTAATTTTTGTGGGGTTTTTGTTTGTTTGTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGACTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATTTTGGCCAGGCTGGTGACCCCTATATTTTAAGTGCCTACTAGAGTCTGGTAGTGTCCTATACATCACATATATGTGATTTTACTAATCTTCACAACAACCCCACACAAAAATCCCACGAAGTTGGCACTTTTTTTCTTCTTTAAAATTTTATTTTTCTGTGTGCATTTGTTTTATAAACGGGGTTCTCGCTATGTTAAACAGGCCAGCCTCAAGCAATTCTCCCACATCAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCAACCTTGCCCAGCCCCCCACCCTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCACTGTCGCCTAGGCTAGAGCTAATTTTTTGTATTTTTTTGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCCACCTCAGCCTCCAAAAATGCTGGGATTACAGGCGTGAGCCACCACACCTGGTCGGCAAAAAATCCCAATTGATGAAACTGGGGGTCAGAGAGGTTGAGAAACCTGCCCAGGGTTACATACCTAGGAAGTTGTAGAGATGGGATTCCAGCCTAATGCCTGATGCTCCCTTACTCCAAAACACAGACCCTTTTTTTTTTTTCCTTTGGTGACAGGGTCCCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGTCTCTGCCTCCCAGGCTCAAGCAGCCCACCCACTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACCACGCCCCGCTAATTTTTGTATTTTTTTGTAGAGATGGGGTTTTACCATACTGTGCCGGTTGGTCTCGAACTTCTGAGCTCAAGCGAGCCACCCCACTCCACCTCCCAAAGGGCTGGAATTACAGGCATGAGCCACCATGCCCGGCCATCAGAACACAGACCCTTAACCACTAAACCCTTTGTAGACAATTAGAGGGAGATGGGGCTGGAAAAGAAGATAGGGTATACGCCACAGACAGCCCCAAATACTCTGCAAAGGAATTTGAACTTTCTTCTGTATACAGTTGGAAACAACAAATGGCTTTTGAGTCCAAGAGTGATGCAATCACAGTGACGCATTAAAACGGTTACTCCGGAGACATCAGAGCACTGTGGCTGGAGGCTGGGAGCCTGGCCAGGAAGCTGTCGCCATTGTCCAGGTGAAAGGTGCTAAGGACCTGCTTGGTGGCAGTGGGGACAGAAAGAAGAAAGCAGGCCAGGCGTGGTGGCTCACACCTATAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGACCAGGAATTCAACACCAGCCTGGGCAACATGGCAAGACCCCATTTCTACAAAAAAAATTTAAAATGAGCTGAATGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGGGGTGGCCCTTGAAGCCAGGAGGTTGAGGCTGCAGTGAACTGTGACTGAGCCACTATACTCCAGCCTGGGTGACAGAGACCCAGCTTTAAAACCAAACAAATGGATTTTCCCACTCTTGTGTCCAGTCCAGGCCCCTCAGCAGCCTGAGGTGGTGTCCTTCAAAGAGCAGAGCACTGCATCATCAGGTGGATGCAGCCATCATCTTCAACCCCTCCCCTTCATCCCTACAGTACTGATGGCCTCATCTTCCCCTTCAACCCCCAGGGACACACTCAGGACACCAACACCTTCTGTGCCGGACACTGCGCTCCCTAGGGGTCCAGGTTTGCCGAGTCTCAGTTGTACCTGATGAGGTAGCCACCATTGCAGCTGAGGTCACTTCTTTCTCCAACCGCTTCACCCATGTCCTCACAGCAGGGGGCATCGGCCCCACTCATGATGATGTGACCTTTGAGGCAGTGGCACAGGCCTTTGGAGATGAGCTGAAGCCACACCCCAAGTTGGAAGCAGCCACCAAAGCCCTAGGAGGGGAAGGCTGGGAGAAGCTATCATTGGTGCCCTCCTCTGCCCGCCTGCATTATGGCACAGATCCTTGCACTGGTCAACCTTTCAGATTCCCTCTGGTCTCCGTCCGAAACGTCTACCTCTTCCCAGGCATTCCAGAGCTGCTGCGGCGGGTGCTGGAGGGGATGAAGGGACTATTCCAAAACCCAGCTGTTCAGTTCCACTCAAAGGAGCTATATGTGGCTGCTGATGAAGCCTCCATCGCCCCCATTCTGGCTGAGGCCCAGGCCCACTTTGGACGTAGGCTTGGCCTGGGTTCCTACCCTGACTGGGGCAGCAACTACTATCAGGTGAAGCTGACTCTAGACTCAGAGGAAGAAGGACCCCTGGAGGAATGCTTGGCCTACCTGACTGCCCGTTTGCCCCAGGGATCGCTGGTCCCCTACATGCCCAACGCTGTGGAGCAGGCCAGTGAGGCTGTATACAAACTCGCTGAATCAGGTAGGGACCTTATGGAGGAGGGGCATTATGCCCAAAGCCATTGGTGGCACCCCAGATCTCAGTAATGCAGGGGCTGTTGGGTGCTTCCTGCAAATCCCTGAGAGGGCAGAAGATAGCTTCTGTTAATTCATTATTCTTCCAATAAATGTTGATTGAGTACCTATTTTCATCAGCACTGTGCTAGGTGTTGGGGATATGGCTCAATAGGATAATGTATGCCCTGCTCTTATGGACCAGTGTTTTAACAAAAAAAGATGGACATTAAACAGGTGATCCTGCATGGGGTGATGAAAGGAGTGATCTCCCACAGCAGGGAGATCAGCCTTGATCTGGGGTCAGAGAAGGCCAAATGACATAAACTGAGTGATAAGGAGGATTTGATCAGTTCAGTAGGTGGGCAAGAGCCAACAGTATGAATGAGGGCCTGCAAGGAAGCAGCATGGGGTTAGGGAATGGAAGGAAGCCCACACCCCACACCCCCTGCTACAGAGGAATGACACTGAGGCTACTGTGAGGTGTGGCTGGGTGGCAGATGGCAGGGCAGGTCAGGGGCAGACTGCAGGGCCTAGCGGGCAGCATGAAGGAGTTTGGACTTTATCCTCAGAACACTGGGAAGATATTGAAGGGTTTAAGCAAGGGCAGCATGCCTTCACTCCCCTTTGATAGCCATATGTGTCCATCTGATGCCCTCTTCCCTGCCTGCTTGGCAGGGTCTTCTTTGGGGAAAAAGGTGGCAGGTGCCCTACAGACCATTGAGACCTCCCTGGCTCAGTACAGCCTCACCCAGCTCTGTGTGGGCTTCAACGGGGGCAAAGACTGCACTGCCCTCCTGCACCTCTTCCATGCAGCTGTGCAGAGGTGAGCCTGCCCCCGGGAGACAAGACCCCTGATCTGTTTCTCCAGTTCCACATCCCAGAAAGCAAGGAGAAAGGGGGTGTACAGGTGGAGTTCAAGAGGGAGATAGTCATGGTGACCTCTCAGTTCCATTCTCCCACCATATTGAGTATATGATATGTGCCTGGCCTTGTGTATGGATGTGCAGGCCACTATCCCTGACGACAGGGAGGTCACAGTCCTGCTGGGGAGATGAGAGATTTACATACCTGAACCAGGGATGCGTGCTTAGATTTGAGAGGTGAAAGGTCAGAGTGGGCTTCCCAGAGGAAGTGGGTCTAATGGATGGAAAGGACAAGGAAAAGGGAGAAGGGGTGAGAGTCTGTCCTAGGGGCCAACGAGAACAGTGAGCTGTTTCAGGGGAGCCATTTCCTTGTCCATGCTCACAAGCCTGTGGATTCTTCCCCCTCTGCAGGAAATTACCTGATGTTCNNNN
|
pathogenic
| 15,331 |
Gene GBA1 variant at chromosome position 155235749 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset']
|
GATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGG
|
GATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 15,378 |
Is the genetic mutation found on chromosome 1 at position 155237425, within the gene GBA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset']
|
TCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCT
|
TCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTN
|
pathogenic
| 15,400 |
Gene mutation in GBA1 at chromosome 1, position 155238298—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset', 'likely other unspecified diseases']
|
TGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAAT
|
TGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATNN
|
pathogenic
| 15,420 |
Is the genetic change at chromosome 1, position 155239657, within gene GBA1 benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic
|
CCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGAT
|
CCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATNNNNN
|
pathogenic
| 15,427 |
Clinical classification of chromosome 1, position 155239968, gene GBA1: benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['GBA1-related_disorder', 'Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset']
|
AGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTG
|
AGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGCCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGNNN
|
pathogenic
| 15,432 |
Is the genetic variant on chromosome 1, position 155239989, gene GBA1, benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset', 'likely other unspecified diseases']
|
GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAAT
|
GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAA
|
pathogenic
| 15,433 |
Is the genetic variant on chromosome 1, position 155239989, gene GBA1, benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Gaucher_disease']
|
GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAAT
|
GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATN
|
pathogenic
| 15,434 |
Evaluate the clinical significance of the mutation at chromosome 1, position 155240660 in gene GBA1 (glucosylceramidase beta 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['GBA1-related_disorder', 'Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset']
|
AGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATGAGATTTAGCGGGAGTGGCACACACAGTCATGACCTGACTAATCCCAGCTCTCAGCCCATTTCCTTGCCTGGAAAATGGAGGCAATGCCACAACCTCAAAGGGTGGTTACTGCAGTCAGTGAGGTAAGTGCAGTGCCTGACCACTTGGTAGGCACCTGGGAACTACTTGTCTCTTGTTTGTATTTTTTGTTGTTGTTGTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCTCCAACATGCTCAGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTGAAACTCTGGACCTCAGGTGATCTGCTGCCTTGGTATCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCTGGACCCCAGCCATCCTTTTTGTTCTTTAAATGATCTCAGTGAAGTCTTTCTAGATACACTCCAAGCAAAATTGATCATTTCTTCTTCTAGGTTCCTCCAGTAATTTTTTTTTTTTTGGTTTTGAGACAGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGTGATCTCGGCTCAAGCAATTGCCCTGCC
|
AGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATGAGATTTAGCGGGAGTGGCACACACAGTCATGACCTGACTAATCCCAGCTCTCAGCCCATTTCCTTGCCTGGAAAATGGAGGCAATGCCACAACCTCAAAGGGTGGTTACTGCAGTCAGTGAGGTAAGTGCAGTGCCTGACCACTTGGTAGGCACCTGGGAACTACTTGTCTCTTGTTTGTATTTTTTGTTGTTGTTGTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCTCCAACATGCTCAGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTGAAACTCTGGACCTCAGGTGATCTGCTGCCTTGGTATCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCTGGACCCCAGCCATCCTTTTTGTTCTTTAAATGATCTCAGTGAAGTCTTTCTAGATACACTCCAAGCAAAATTGATCATTTCTTCTTCTAGGTTCCTCCAGTAATTTTTTTTTTTTTGGTTTTGAGACAGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGTGATCTCGGCTCAAGCAATTGCCCTGC
|
pathogenic
| 15,436 |
The genetic variant at chromosome 1, position 155291831, affecting gene PKLR (pyruvate kinase L/R): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic
|
GTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAA
|
GTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTA
|
pathogenic
| 15,447 |
Is the variant located on chromosome 1 at position 155294259, gene PKLR (pyruvate kinase L/R), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic
|
CAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTG
|
CAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGT
|
pathogenic
| 15,461 |
Does the genetic variant at chromosome 1, position 155295172, impacting gene PKLR (pyruvate kinase L/R), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic
|
CAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTT
|
CAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCAGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTNNNNNNNNNNNNN
|
pathogenic
| 15,471 |
Considering the variant on chromosome 1, location 155477966, involving gene ASH1L (ASH1 like histone lysine methyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['ASH1L-related_disorder', 'Intellectual_disability,_autosomal_dominant_52']
|
ACCTCCTCTACTATAATCTCCATGACTCAATGAACCTGTGTGCCTCATTCTCTATTATATAACAAGGGCCCACAAAGTAGAATGCCTGGTAAATACCTGATATTCAGTAACTATTACTGATTAAATAAACTATTTGTTGAATGGACCTAAGCATAAGACTTTTTCTCTCTTTACGTTGTTAAAAGCTGGCCGGGTGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAAATCAGGAACAAAAACTCTTTGTATTCGAGGGGTTTATCTTTTCCCTAATACACAAGTCTTTTTTTGTTTTTTGTTTTTTTTTTAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCACCTCCAGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAAGCGCCTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTAAGTAGAGATGGGGTTTCATCGTGTTAACCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATGCACAAGTTTTTAATCTTTTAGGGGAATAATAATAATAACTAATATTTGCATGCTTACTATGTGATTACTTTTCATAATACCCCTACAAATCCCATTATATAGGAGGTTTAGAGAATATACTGAGGTTTAGAGAATTTACTTGGAAAATCTGATGAAATTTTTCTAGATTATCACTAAAAAAGATGCACAAACATATATACCCGTAATTTTACTTACAACATCAGAGGGTTTATGGACTTCCTAGAGTTATTTTACAAACTCTTAGGCTTAAGATCTCTCACAAAGAACTTCTAATCTTTTATTCGAGTGGCAAATGCTTACTCTTTGTTTTCTATCTTCTCAATTCTTAAAAGGTGTATAATTAAGAGAGAAAAAGATGTACAATTCTTTCTAGATGTACAAATGCATTTTCCAGATTTCTTTTTTTTCTATCTAATTGAAGCAGCTTTTATGAAAACATCAAAAGGTATGCTGCAAAATGAAGTCTGTCTGAATGAATATTCAGTTAAATTTTACAATGCTGAAAATGTCCAATGTTTGAATTTTTATTATGAGACATACAGTATTAATAACATATTCTTCCTGTAACAAAGATGCATTTATAACTACTGGATTAATATACATTAAAAATCCTTCCAGCATTACCTTTTACCTCTTGGGGTGGTGGGGGCAGGGGGTGGTGGGAGATCCTGCATACTACTAACAGACCTATGAGCCATTTGTCTTTATAAAAATTGTGTAATAACCTGTCTACATAAAAAAGATGAATGATTTTTCCTGGTTTCCAAAAGTTATGTATATTTCTTTCTTTTTTTCTTTTTGACAATAGCTCTTCTCAAAACAAAAAAATAATATAGACATTCCCTACTTCTTAAATCTTAAGGAAAAGGAATACTGAGATTTCAAAATACACTTATTAAAAAACAAAAAAAGATATATATATTAAAAGTTCATCTACATTTATCAGGCACCTGTGGAAAATAACCTATTTCTTTAACAAATAACAGGTAACAAAATAACCCTCTTACCTGCCAAAGTCTGTACTGCCCTTTCGTTAGAAGGCAGTGACTCCTTTCTGTGAAGCCGATTTAGTGAAGTGTCCTGTGCAGAAAAGAGTCCAGGGCTGTCAGTTAATTTCTTCCGGCCACTGGAGTTAGGGTTTGAAACTCTGCAGCTGCCTATTGCACTTGTGAAAAGGTTTGTATGTTCATCACTGCTGGCTGGCTCAGAGTTGGGAGTGAATCCTCCAAGGGATAAGCTTGGAGAACTTTCTGAACAGTCAATCTGTAAAGGTGTCTGCAATCCCAAGGCCAATGGACTAGATTCTGAAGGCTCTCGGTGGACCCACTGTTCCTCTCTGTTTATTAAGCTTTTTGAAGGAGAGAGATGAGGGCAGGACATGTGACAACGGTGCTTTTCCTTATGCTTATATCGCTCTCCAACAGCATCCTTTCCAAATCTATAGCGCTTCAAAGATTCCAGGACAGATCGGGAAGAGCCAGTGTCCATAGAAACCTGGGGTTGTTCAGAAGAACGGTGTTCTCTGTGTTTGTGACGGTGCCTGTGTTTGTGCTCAACCATCCAACCATAGGCCATCTCAGGAGGAACACTGGGGTAGGTACTCATGGAAAGGAGGGGAGTCCTGCTGGTTGTAAGAAAGGCCTCCTGTCGAAGTAGCTTATGCTTTTTCTTATGGTATTTGGCAGGATTGAGAAGTAAATGACCAGCATGCATATAGGAAGGAGGTGGAAGTGGCGTGGTGAAAGAAGGAGATGGAGGAGGTGGATAAAGAGTGGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCT
|
ACCTCCTCTACTATAATCTCCATGACTCAATGAACCTGTGTGCCTCATTCTCTATTATATAACAAGGGCCCACAAAGTAGAATGCCTGGTAAATACCTGATATTCAGTAACTATTACTGATTAAATAAACTATTTGTTGAATGGACCTAAGCATAAGACTTTTTCTCTCTTTACGTTGTTAAAAGCTGGCCGGGTGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAAATCAGGAACAAAAACTCTTTGTATTCGAGGGGTTTATCTTTTCCCTAATACACAAGTCTTTTTTTGTTTTTTGTTTTTTTTTTAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCACCTCCAGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAAGCGCCTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTAAGTAGAGATGGGGTTTCATCGTGTTAACCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATGCACAAGTTTTTAATCTTTTAGGGGAATAATAATAATAACTAATATTTGCATGCTTACTATGTGATTACTTTTCATAATACCCCTACAAATCCCATTATATAGGAGGTTTAGAGAATATACTGAGGTTTAGAGAATTTACTTGGAAAATCTGATGAAATTTTTCTAGATTATCACTAAAAAAGATGCACAAACATATATACCCGTAATTTTACTTACAACATCAGAGGGTTTATGGACTTCCTAGAGTTATTTTACAAACTCTTAGGCTTAAGATCTCTCACAAAGAACTTCTAATCTTTTATTCGAGTGGCAAATGCTTACTCTTTGTTTTCTATCTTCTCAATTCTTAAAAGGTGTATAATTAAGAGAGAAAAAGATGTACAATTCTTTCTAGATGTACAAATGCATTTTCCAGATTTCTTTTTTTTCTATCTAATTGAAGCAGCTTTTATGAAAACATCAAAAGGTATGCTGCAAAATGAAGTCTGTCTGAATGAATATTCAGTTAAATTTTACAATGCTGAAAATGTCCAATGTTTGAATTTTTATTATGAGACATACAGTATTAATAACATATTCTTCCTGTAACAAAGATGCATTTATAACTACTGGATTAATATACATTAAAAATCCTTCCAGCATTACCTTTTACCTCTTGGGGTGGTGGGGGCAGGGGGTGGTGGGAGATCCTGCATACTACTAACAGACCTATGAGCCATTTGTCTTTATAAAAATTGTGTAATAACCTGTCTACATAAAAAAGATGAATGATTTTTCCTGGTTTCCAAAAGTTATGTATATTTCTTTCTTTTTTTCTTTTTGACAATAGCTCTTCTCAAAACAAAAAAATAATATAGACATTCCCTACTTCTTAAATCTTAAGGAAAAGGAATACTGAGATTTCAAAATACACTTATTAAAAAACAAAAAAAGATATATATATTAAAAGTTCATCTACATTTATCAGGCACCTGTGGAAAATAACCTATTTCTTTAACAAATAACAGGTAACAAAATAACCCTCTTACCTGCCAAAGTCTGTACTGCCCTTTCGTTAGAAGGCAGTGACTCCTTTCTGTGAAGCCGATTTAGTGAAGTGTCCTGTGCAGAAGAGTCCAGGGCTGTCAGTTAATTTCTTCCGGCCACTGGAGTTAGGGTTTGAAACTCTGCAGCTGCCTATTGCACTTGTGAAAAGGTTTGTATGTTCATCACTGCTGGCTGGCTCAGAGTTGGGAGTGAATCCTCCAAGGGATAAGCTTGGAGAACTTTCTGAACAGTCAATCTGTAAAGGTGTCTGCAATCCCAAGGCCAATGGACTAGATTCTGAAGGCTCTCGGTGGACCCACTGTTCCTCTCTGTTTATTAAGCTTTTTGAAGGAGAGAGATGAGGGCAGGACATGTGACAACGGTGCTTTTCCTTATGCTTATATCGCTCTCCAACAGCATCCTTTCCAAATCTATAGCGCTTCAAAGATTCCAGGACAGATCGGGAAGAGCCAGTGTCCATAGAAACCTGGGGTTGTTCAGAAGAACGGTGTTCTCTGTGTTTGTGACGGTGCCTGTGTTTGTGCTCAACCATCCAACCATAGGCCATCTCAGGAGGAACACTGGGGTAGGTACTCATGGAAAGGAGGGGAGTCCTGCTGGTTGTAAGAAAGGCCTCCTGTCGAAGTAGCTTATGCTTTTTCTTATGGTATTTGGCAGGATTGAGAAGTAAATGACCAGCATGCATATAGGAAGGAGGTGGAAGTGGCGTGGTGAAAGAAGGAGATGGAGGAGGTGGATAAAGAGTGGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTNN
|
pathogenic
| 15,494 |
Variant at chromosome 1, position 155478215, gene ASH1L (ASH1 like histone lysine methyltransferase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Intellectual_disability,_autosomal_dominant_52']
|
ACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAAATCAGGAACAAAAACTCTTTGTATTCGAGGGGTTTATCTTTTCCCTAATACACAAGTCTTTTTTTGTTTTTTGTTTTTTTTTTAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCACCTCCAGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAAGCGCCTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTAAGTAGAGATGGGGTTTCATCGTGTTAACCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATGCACAAGTTTTTAATCTTTTAGGGGAATAATAATAATAACTAATATTTGCATGCTTACTATGTGATTACTTTTCATAATACCCCTACAAATCCCATTATATAGGAGGTTTAGAGAATATACTGAGGTTTAGAGAATTTACTTGGAAAATCTGATGAAATTTTTCTAGATTATCACTAAAAAAGATGCACAAACATATATACCCGTAATTTTACTTACAACATCAGAGGGTTTATGGACTTCCTAGAGTTATTTTACAAACTCTTAGGCTTAAGATCTCTCACAAAGAACTTCTAATCTTTTATTCGAGTGGCAAATGCTTACTCTTTGTTTTCTATCTTCTCAATTCTTAAAAGGTGTATAATTAAGAGAGAAAAAGATGTACAATTCTTTCTAGATGTACAAATGCATTTTCCAGATTTCTTTTTTTTCTATCTAATTGAAGCAGCTTTTATGAAAACATCAAAAGGTATGCTGCAAAATGAAGTCTGTCTGAATGAATATTCAGTTAAATTTTACAATGCTGAAAATGTCCAATGTTTGAATTTTTATTATGAGACATACAGTATTAATAACATATTCTTCCTGTAACAAAGATGCATTTATAACTACTGGATTAATATACATTAAAAATCCTTCCAGCATTACCTTTTACCTCTTGGGGTGGTGGGGGCAGGGGGTGGTGGGAGATCCTGCATACTACTAACAGACCTATGAGCCATTTGTCTTTATAAAAATTGTGTAATAACCTGTCTACATAAAAAAGATGAATGATTTTTCCTGGTTTCCAAAAGTTATGTATATTTCTTTCTTTTTTTCTTTTTGACAATAGCTCTTCTCAAAACAAAAAAATAATATAGACATTCCCTACTTCTTAAATCTTAAGGAAAAGGAATACTGAGATTTCAAAATACACTTATTAAAAAACAAAAAAAGATATATATATTAAAAGTTCATCTACATTTATCAGGCACCTGTGGAAAATAACCTATTTCTTTAACAAATAACAGGTAACAAAATAACCCTCTTACCTGCCAAAGTCTGTACTGCCCTTTCGTTAGAAGGCAGTGACTCCTTTCTGTGAAGCCGATTTAGTGAAGTGTCCTGTGCAGAAAAGAGTCCAGGGCTGTCAGTTAATTTCTTCCGGCCACTGGAGTTAGGGTTTGAAACTCTGCAGCTGCCTATTGCACTTGTGAAAAGGTTTGTATGTTCATCACTGCTGGCTGGCTCAGAGTTGGGAGTGAATCCTCCAAGGGATAAGCTTGGAGAACTTTCTGAACAGTCAATCTGTAAAGGTGTCTGCAATCCCAAGGCCAATGGACTAGATTCTGAAGGCTCTCGGTGGACCCACTGTTCCTCTCTGTTTATTAAGCTTTTTGAAGGAGAGAGATGAGGGCAGGACATGTGACAACGGTGCTTTTCCTTATGCTTATATCGCTCTCCAACAGCATCCTTTCCAAATCTATAGCGCTTCAAAGATTCCAGGACAGATCGGGAAGAGCCAGTGTCCATAGAAACCTGGGGTTGTTCAGAAGAACGGTGTTCTCTGTGTTTGTGACGGTGCCTGTGTTTGTGCTCAACCATCCAACCATAGGCCATCTCAGGAGGAACACTGGGGTAGGTACTCATGGAAAGGAGGGGAGTCCTGCTGGTTGTAAGAAAGGCCTCCTGTCGAAGTAGCTTATGCTTTTTCTTATGGTATTTGGCAGGATTGAGAAGTAAATGACCAGCATGCATATAGGAAGGAGGTGGAAGTGGCGTGGTGAAAGAAGGAGATGGAGGAGGTGGATAAAGAGTGGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGG
|
ACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAAATCAGGAACAAAAACTCTTTGTATTCGAGGGGTTTATCTTTTCCCTAATACACAAGTCTTTTTTTGTTTTTTGTTTTTTTTTTAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCACCTCCAGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAAGCGCCTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTAAGTAGAGATGGGGTTTCATCGTGTTAACCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATGCACAAGTTTTTAATCTTTTAGGGGAATAATAATAATAACTAATATTTGCATGCTTACTATGTGATTACTTTTCATAATACCCCTACAAATCCCATTATATAGGAGGTTTAGAGAATATACTGAGGTTTAGAGAATTTACTTGGAAAATCTGATGAAATTTTTCTAGATTATCACTAAAAAAGATGCACAAACATATATACCCGTAATTTTACTTACAACATCAGAGGGTTTATGGACTTCCTAGAGTTATTTTACAAACTCTTAGGCTTAAGATCTCTCACAAAGAACTTCTAATCTTTTATTCGAGTGGCAAATGCTTACTCTTTGTTTTCTATCTTCTCAATTCTTAAAAGGTGTATAATTAAGAGAGAAAAAGATGTACAATTCTTTCTAGATGTACAAATGCATTTTCCAGATTTCTTTTTTTTCTATCTAATTGAAGCAGCTTTTATGAAAACATCAAAAGGTATGCTGCAAAATGAAGTCTGTCTGAATGAATATTCAGTTAAATTTTACAATGCTGAAAATGTCCAATGTTTGAATTTTTATTATGAGACATACAGTATTAATAACATATTCTTCCTGTAACAAAGATGCATTTATAACTACTGGATTAATATACATTAAAAATCCTTCCAGCATTACCTTTTACCTCTTGGGGTGGTGGGGGCAGGGGGTGGTGGGAGATCCTGCATACTACTAACAGACCTATGAGCCATTTGTCTTTATAAAAATTGTGTAATAACCTGTCTACATAAAAAAGATGAATGATTTTTCCTGGTTTCCAAAAGTTATGTATATTTCTTTCTTTTTTTCTTTTTGACAATAGCTCTTCTCAAAACAAAAAAATAATATAGACATTCCCTACTTCTTAAATCTTAAGGAAAAGGAATACTGAGATTTCAAAATACACTTATTAAAAAACAAAAAAAGATATATATATTAAAAGTTCATCTACATTTATCAGGCACCTGTGGAAAATAACCTATTTCTTTAACAAATAACAGGTAACAAAATAACCCTCTTACCTGCCAAAGTCTGTACTGCCCTTTCGTTAGAAGGCAGTGACTCCTTTCTGTGAAGCCGATTTAGTGAAGTGTCCTGTGCAGAAAAGAGTCCAGGGCTGTCAGTTAATTTCTTCCGGCCACTGGAGTTAGGGTTTGAAACTCTGCAGCTGCCTATTGCACTTGTGAAAAGGTTTGTATGTTCATCACTGCTGGCTGGCTCAGAGTTGGGAGTGAATCCTCCAAGGGATAAGCTTGGAGAACTTTCTGAACAGTCAATCTGTAAAGGTGTCTGCAATCCCAAGGCCAATGGACTAGATTCTGAAGGCTCTCGGTGGACCCACTGTTCCTCTCTATTAAGCTTTTTGAAGGAGAGAGATGAGGGCAGGACATGTGACAACGGTGCTTTTCCTTATGCTTATATCGCTCTCCAACAGCATCCTTTCCAAATCTATAGCGCTTCAAAGATTCCAGGACAGATCGGGAAGAGCCAGTGTCCATAGAAACCTGGGGTTGTTCAGAAGAACGGTGTTCTCTGTGTTTGTGACGGTGCCTGTGTTTGTGCTCAACCATCCAACCATAGGCCATCTCAGGAGGAACACTGGGGTAGGTACTCATGGAAAGGAGGGGAGTCCTGCTGGTTGTAAGAAAGGCCTCCTGTCGAAGTAGCTTATGCTTTTTCTTATGGTATTTGGCAGGATTGAGAAGTAAATGACCAGCATGCATATAGGAAGGAGGTGGAAGTGGCGTGGTGAAAGAAGGAGATGGAGGAGGTGGATAAAGAGTGGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGGNNNN
|
pathogenic
| 15,497 |
Gene ASH1L (ASH1 like histone lysine methyltransferase) variant at chromosome 1, position 155480735—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Intellectual_disability,_autosomal_dominant_52']
|
GAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGGCTGTAAAATTGGGGGTTCTTGTTCTTCCTTAGACTGTAAAGAAAACACTTTAGAAGCAGGGATTTTTAAAGTCCTTTTAGGTGGCCCTTCCAGTTGAGGCATCTCCTTAGATTTAGGCCTTCCTCTTTTGGGCTTATAAATATCAGACAAAAGGTCACTAGAGACACACATACTGGAGGATAGTTTGTGAGTAGCAAAAGACTTATGAGATGGTTTTTCACTATCAGCTAAGAGAGCAAGAGATGGAGCTGTGGATTTGCTCAACTTTGGCAATCGGCGTTTAAGGAAGTCATGATCTACAAATGAAGGGGGTCCAATGTTTTTCATAAACTTGGCTGGCTCAGAATTACTATTTGATAGTGAGCTACATGAAACGTTTTTAAAAAGCTCTGATCTTTCTAATTCTAGCCCTTTTGGAGACCGGCATGTGCTTCTTGCCACCACTTTAGTCCACCGAGGTTTTCTTCCTTTTCTTTTTTTTAATGGTTTGGACTGCAAACTAGTACTTAGGCTTTCAGCAACTTGGCAGTGTTTGTCTGATGCAGATACTGCACCCAGTTTTAAAAAAGGCTTATTACTAAATAAACTAGTGAAGTTAACAACTGAAGGAGTAATAGTATGAATGCTGGATTCAGAAGTCAAACTTGGCTTTTTTCCAAGGGAAGAGCTTATTCTTGGAATATCTATATGGGTAGTTTTTGAATCATTTACCTCTTTATCAATCCCTTTACATTCAATACTTATACTATGACCAACTGACCTATGACCAACGTTCAAGTGGGTACTTTCAGAAGTAAACTGGTTCTTTCCAACAGATTCAGAAATTTCTTCGATTAGTTCTGTAGTAGAACTTAAAAGTAATGGATTAGGAGCCAACTGTGAAGAAGTTTCAGGGGGACTTCTGGTTAAAGGATTAACAGATACAGTAGGTGATGGGGAAGGGAGATTGCTTTCTCCTACTGCACTGAATGGGGATTTAGCGGTAGATACATCAGAAGCACCTCCCATTTTAAAGTCCGGAGAAGTGCAATATACAGGAGGCTGCTTTTCATGCTTTGAGGTTTCATAAGATCCCTTTTCACTGGATGAGAAACTGTCTTGCTGAATGCATGTTCCTTCATTAAACATTTCTTTCTCCAAATTAATGATTTCTTTTCGTACTGAGAACTTTTCCAATATGCTTTCTTTATTCTGCCGTACAACATTCTTTTCAAAAGTTTTGCTGGTGGCACTATCTTTCAGGGATTCAGAAAGTTCCTGACTTTCCTGATTATTGATGTTTGTACTACAAGAAGCCTTAAGCGGTTCCTGAGTGGGGAGCAGTGCTTCGGCTTTAAGGTTTATGGCATCTTTACTGATCAGACCTGCCAAAGGACAACTCATTAGTTTCTTTCCAATGTCCTTATTAACCAATCCCATTGCTGAACTTGCTACAATCTTCTTTGCACAGTCCTTGGCCACTAGGCCAACAGTAGAACCCAATTTCTTTCCCAAATCTTTATTAACCAGTCCAACCACAGTGCCAAGTCCTAACTTCTTGCCAGACTCTTTATGCACTAAACCTGGAACAATACCAATTCCTAGCTTCTTTCCTGAATCTTTGCTTAGCAGTCCTACTGTAGTGATAGTTCCTGGCTTTTTGCCTAAGTTTTTATTAATGAATACCGCTGTAGTGCCAGTTCCCAGTTTTTTCACAGAGTCCTTATTGACCAATCCTACTGCTGCATTAAACACTGGCTTTTTCCCAGGATCTTTAGTTACCAATCCAACTGCTGTGCTGATGGTTGGCTTTTTTATTAAGTCCTTATGTATTATTCCAGCTACAGAGCCAACACCTGCTTTCCTGATCAAATCCTTGCTAACCAATCCTGCTGTAGTGCCAGTTCCTAACTTCTTCGGTTTTGTCTTGGAAGACTTGGAAGGAGGACAGGTAGCAATCAGCTGTGCCAACTTTTCTGTTACACTAGTTCCTCCATTAAGTAATGCTCTGTCCTTTAAATCAGGATCCCGGCTACCAAGAAGAGTAGATGGCGTTGCATTAATATAATCTGCCATTTCTGAGTGTACTGGAGACAGCTTCTTAGACAAAGGATTGTTTTCTCCCTGTGAATGAAGACGGATGACTTCTTCAGACTGGCATTCAATGGCTGCAACATCATCTGCTTTCTTGTACAACTTTGAAGGGTCCTAAAATTTGAACAAGAAAAAAGTTAAAGAGGGAGTAAACCTTACACCACTTTAGCTTAGCTTAACAATCCAACAAACTAATGGATCACATATCAGATAAACAATAGGCAACAGTGGTTTTTAAAAAACCTAATATTATACTTATGTCACAGTATGTTAGCTCATCTGCTGCTATACGAGAGGCTATCATGGTATATTATCTTTGTTGACTTTCAACACGATAAAACTATACATTAGAGGGTCTTTAGAAATATCCCTGATATTTTTGACATTTTTTAAATGGCAAATCAATAGTCTACTTTCATCTTACTTTTGACTGGGTAAATATAAATG
|
GAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGGCTGTAAAATTGGGGGTTCTTGTTCTTCCTTAGACTGTAAAGAAAACACTTTAGAAGCAGGGATTTTTAAAGTCCTTTTAGGTGGCCCTTCCAGTTGAGGCATCTCCTTAGATTTAGGCCTTCCTCTTTTGGGCTTATAAATATCAGACAAAAGGTCACTAGAGACACACATACTGGAGGATAGTTTGTGAGTAGCAAAAGACTTATGAGATGGTTTTTCACTATCAGCTAAGAGAGCAAGAGATGGAGCTGTGGATTTGCTCAACTTTGGCAATCGGCGTTTAAGGAAGTCATGATCTACAAATGAAGGGGGTCCAATGTTTTTCATAAACTTGGCTGGCTCAGAATTACTATTTGATAGTGAGCTACATGAAACGTTTTTAAAAAGCTCTGATCTTTCTAATTCTAGCCCTTTTGGAGACCGGCATGTGCTTCTTGCCACCACTTTAGTCCACCGAGGTTTTCTTCCTTTTCTTTTTTTTTAATGGTTTGGACTGCAAACTAGTACTTAGGCTTTCAGCAACTTGGCAGTGTTTGTCTGATGCAGATACTGCACCCAGTTTTAAAAAAGGCTTATTACTAAATAAACTAGTGAAGTTAACAACTGAAGGAGTAATAGTATGAATGCTGGATTCAGAAGTCAAACTTGGCTTTTTTCCAAGGGAAGAGCTTATTCTTGGAATATCTATATGGGTAGTTTTTGAATCATTTACCTCTTTATCAATCCCTTTACATTCAATACTTATACTATGACCAACTGACCTATGACCAACGTTCAAGTGGGTACTTTCAGAAGTAAACTGGTTCTTTCCAACAGATTCAGAAATTTCTTCGATTAGTTCTGTAGTAGAACTTAAAAGTAATGGATTAGGAGCCAACTGTGAAGAAGTTTCAGGGGGACTTCTGGTTAAAGGATTAACAGATACAGTAGGTGATGGGGAAGGGAGATTGCTTTCTCCTACTGCACTGAATGGGGATTTAGCGGTAGATACATCAGAAGCACCTCCCATTTTAAAGTCCGGAGAAGTGCAATATACAGGAGGCTGCTTTTCATGCTTTGAGGTTTCATAAGATCCCTTTTCACTGGATGAGAAACTGTCTTGCTGAATGCATGTTCCTTCATTAAACATTTCTTTCTCCAAATTAATGATTTCTTTTCGTACTGAGAACTTTTCCAATATGCTTTCTTTATTCTGCCGTACAACATTCTTTTCAAAAGTTTTGCTGGTGGCACTATCTTTCAGGGATTCAGAAAGTTCCTGACTTTCCTGATTATTGATGTTTGTACTACAAGAAGCCTTAAGCGGTTCCTGAGTGGGGAGCAGTGCTTCGGCTTTAAGGTTTATGGCATCTTTACTGATCAGACCTGCCAAAGGACAACTCATTAGTTTCTTTCCAATGTCCTTATTAACCAATCCCATTGCTGAACTTGCTACAATCTTCTTTGCACAGTCCTTGGCCACTAGGCCAACAGTAGAACCCAATTTCTTTCCCAAATCTTTATTAACCAGTCCAACCACAGTGCCAAGTCCTAACTTCTTGCCAGACTCTTTATGCACTAAACCTGGAACAATACCAATTCCTAGCTTCTTTCCTGAATCTTTGCTTAGCAGTCCTACTGTAGTGATAGTTCCTGGCTTTTTGCCTAAGTTTTTATTAATGAATACCGCTGTAGTGCCAGTTCCCAGTTTTTTCACAGAGTCCTTATTGACCAATCCTACTGCTGCATTAAACACTGGCTTTTTCCCAGGATCTTTAGTTACCAATCCAACTGCTGTGCTGATGGTTGGCTTTTTTATTAAGTCCTTATGTATTATTCCAGCTACAGAGCCAACACCTGCTTTCCTGATCAAATCCTTGCTAACCAATCCTGCTGTAGTGCCAGTTCCTAACTTCTTCGGTTTTGTCTTGGAAGACTTGGAAGGAGGACAGGTAGCAATCAGCTGTGCCAACTTTTCTGTTACACTAGTTCCTCCATTAAGTAATGCTCTGTCCTTTAAATCAGGATCCCGGCTACCAAGAAGAGTAGATGGCGTTGCATTAATATAATCTGCCATTTCTGAGTGTACTGGAGACAGCTTCTTAGACAAAGGATTGTTTTCTCCCTGTGAATGAAGACGGATGACTTCTTCAGACTGGCATTCAATGGCTGCAACATCATCTGCTTTCTTGTACAACTTTGAAGGGTCCTAAAATTTGAACAAGAAAAAAGTTAAAGAGGGAGTAAACCTTACACCACTTTAGCTTAGCTTAACAATCCAACAAACTAATGGATCACATATCAGATAAACAATAGGCAACAGTGGTTTTTAAAAAACCTAATATTATACTTATGTCACAGTATGTTAGCTCATCTGCTGCTATACGAGAGGCTATCATGGTATATTATCTTTGTTGACTTTCAACACGATAAAACTATACATTAGAGGGTCTTTAGAAATATCCCTGATATTTTTGACATTTTTTAAATGGCAAATCAATAGTCTACTTTCATCTTACTTTTGACTGGGTAAATATAAAT
|
pathogenic
| 15,503 |
Does the chromosome 1 mutation at position 155612490 within gene MSTO1 (misato mitochondrial distribution and morphology regulator 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Inborn_genetic_diseases', 'Mitochondrial_myopathy-cerebellar_ataxia-pigmentary_retinopathy_syndrome']
|
AGCGACCGATTCCAAGGAGCCCCCGGGAGAGCTGTGCCCCGACGTCCTGTATCGTACGGGCCGGACGCTGCACGGCCAGGAGACCTACACGCCGCGACTCATCCTCATGGATCTGAAGGGTGAGGTGGTGGCAGAGTTAGCCGATGCCCCTTATTTCCCTTCCGCGTGCCTAGTCCTTGCGCTGCCGTTATCTTCAAGACCCTCCCACCTTACCGAGCTCCAGGACCGGAGATGAGGAGCTGAGCACAACATGCCAACACTCGAGGGGCCCACGACAGTTGCTCAAGAGCCATTTCGGGAATAGGCTGCTAGGCCCTGGAGACAGTGAGGACTTGAACTGCAGCACTCCTGTCAGACCCCTGGATGTGGTTCCCCCCGCGTCCCACAGCTAATGACTAAGCTGGGAACCGAAAGATGGAATCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATG
|
AGCGACCGATTCCAAGGAGCCCCCGGGAGAGCTGTGCCCCGACGTCCTGTATCGTACGGGCCGGACGCTGCACGGCCAGGAGACCTACACGCCGCGACTCATCCTCATGGATCTGAAGGGTGAGGTGGTGGCAGAGTTAGCCGATGCCCCTTATTTCCCTTCCGCGTGCCTAGTCCTTGCGCTGCCGTTATCTTCAAGACCCTCCCACCTTACCGAGCTCCAGGACCGGAGATGAGGAGCTGAGCACAACATGCCAACACTCGAGGGGCCCACGACAGTTGCTCAAGAGCCATTTCGGGAATAGGCTGCTAGGCCCTGGAGACAGTGAGGACTTGAACTGCAGCACTCCTGTCAGACCCCTGGATGTGGTTCCCCCCGCGTCCCACAGCTAATGACTAAGCTGGGAACCGAAAGATGGAATCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGNN
|
pathogenic
| 15,523 |
Mutation at chromosome 1, position 155613205, within MSTO1 (misato mitochondrial distribution and morphology regulator 1): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Mitochondrial_myopathy-cerebellar_ataxia-pigmentary_retinopathy_syndrome']
|
AACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTTGTTTATTCCACACAGCAAGGTTGAGAGAGCTATGTCACTATAGATAAGGAAACTCAAGAGGCTAAATGTTTTGCCCAAAGTCACACGACTCCTAAAAACAAAACTAGAATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAGCCCTATCTCTACTAAAAATAGAAAAATTGGCTGGGTGGTGGGCACCTGTAATCCCAGCCACTCGAGAGGCTGAGGCAG
|
AACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTTGTTTATTCCACACAGCAAGGTTGAGAGAGCTATGTCACTATAGATAAGGAAACTCAAGAGGCTAAATGTTTTGCCCAAAGTCACACGACTCCTAAAAACAAAACTAGAATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAGCCCTATCTCTACTAAAAATAGAAAAATTGGCTGGGTGGTGGGCACCTGTAATCCCAGCCACTCGAGAGGCTGAGGCAGN
|
pathogenic
| 15,525 |
Regarding the variant found on chromosome 1 at position 155904718 in gene RIT1 (Ras like without CAAX 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
CGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAA
|
CGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAN
|
benign
| 15,589 |
Does the variant on chromosome 1 at location 156114922 affecting gene LMNA (lamin A/C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Charcot-Marie-Tooth_disease_type_2B1', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation', 'Dilated_cardiomyopathy-hypergonadotropic_hypogonadism_syndrome', 'Dilated_cardiomyopathy_1A', 'Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant', 'Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive', 'Familial_partial_lipodystrophy,_Dunnigan_type', 'Heart-hand_syndrome,_Slovenian_type', 'Hutchinson-Gilford_syndrome', 'Mandibuloacral_dysplasia_with_type_A_lipodystrophy', 'Restrictive_dermopathy_2']
|
GGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAA
|
GGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAN
|
pathogenic
| 15,640 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 156114968, gene LMNA: what disease(s) if pathogenic?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
TCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAA
|
TCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCA
|
pathogenic
| 15,647 |
Is the chromosome 1, position 156115009 variant in LMNA clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation']
|
GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAA
|
GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAANNN
|
pathogenic
| 15,656 |
The mutation impacting LMNA (lamin A/C) on chromosome 1 at position 156115079: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2']
|
ACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTC
|
ACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCNN
|
pathogenic
| 15,673 |
Variant in gene LMNA (lamin A/C), located at chromosome 1 position 156115211: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2']
|
GCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACG
|
GCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGNN
|
pathogenic
| 15,686 |
Clinical classification of chromosome 1, position 156115251, gene LMNA (lamin A/C): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']
|
CTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTG
|
CTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAATAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTG
|
pathogenic
| 15,690 |
Regarding the variant at chromosome 1 and position 156115254, affecting gene LMNA (lamin A/C): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2']
|
AGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTGACC
|
AGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTGAC
|
pathogenic
| 15,691 |
Variant on chromosome 1, at position 156115265, affecting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
TCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTGACCTCAGGTCACTG
|
TCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTGACCTCAGGTCACT
|
pathogenic
| 15,693 |
Variant at chromosome 1, position 156130623, gene LMNA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
CTGGCTTCTCCATTCTCTCTGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCA
|
CTGGCTTCTCCATTCTCTCTGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCANNN
|
pathogenic
| 15,707 |
The mutation impacting LMNA on chromosome 1 at position 156130642: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']
|
TGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACC
|
TGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATTAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAAC
|
pathogenic
| 15,713 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 156134394, gene LMNA (lamin A/C): what disease(s) if pathogenic?
|
benign
|
TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGG
|
TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAG
|
benign
| 15,728 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 156134410, gene LMNA (lamin A/C): what disease(s) if pathogenic?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCT
|
TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTN
|
pathogenic
| 15,729 |
Variant on chromosome 1, at position 156134499, affecting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']
|
CAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACC
|
CAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCN
|
pathogenic
| 15,743 |
Assess the variant on chromosome 1, position 156134523, impacting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']
|
AACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCC
|
AACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCT
|
pathogenic
| 15,749 |
A genetic alteration at chromosome 1, position 156134876, in gene LMNA (lamin A/C)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
TCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGAC
|
TCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTCCGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACNNNNNNNNNNNNNNNNN
|
pathogenic
| 15,767 |
Determine whether the variant at chromosome 1, position 156134926, in gene LMNA (lamin A/C) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
CACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTT
|
CACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTN
|
pathogenic
| 15,774 |
Chromosome 1, position 156134942, gene LMNA (lamin A/C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
CAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTC
|
CAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCNNN
|
pathogenic
| 15,780 |
The mutation impacting LMNA (lamin A/C) on chromosome 1 at position 156135196: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Charcot-Marie-Tooth_disease_type_2B1', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation', 'Dilated_cardiomyopathy-hypergonadotropic_hypogonadism_syndrome', 'Dilated_cardiomyopathy_1A', 'Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant', 'Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive', 'Familial_partial_lipodystrophy,_Dunnigan_type', 'Heart-hand_syndrome,_Slovenian_type', 'Hutchinson-Gilford_syndrome', 'Mandibuloacral_dysplasia_with_type_A_lipodystrophy', 'Restrictive_dermopathy_2']
|
TCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCC
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TCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCN
|
pathogenic
| 15,793 |
Gene mutation in LMNA (lamin A/C) at chromosome 1, position 156135230—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Primary_dilated_cardiomyopathy']
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TGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCT
|
TGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTN
|
pathogenic
| 15,800 |
Chromosome 1, position 156135262, gene LMNA (lamin A/C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
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pathogenic; ['Charcot-Marie-Tooth_disease_type_2']
|
CAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAAC
|
CAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCAGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAA
|
pathogenic
| 15,806 |
Clinically, how would you classify the variant at chromosome 1, position 156135279, gene LMNA (lamin A/C): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Dilated_cardiomyopathy_1A', 'Dilated_cardiomyopathy_1S']
|
AGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCA
|
AGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCANN
|
pathogenic
| 15,809 |
A genetic variant on chromosome 1, position 156135921, affects the gene LMNA (lamin A/C). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
CTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCT
|
CTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTN
|
pathogenic
| 15,828 |
Is the chromosome 1, position 156135940 variant in LMNA (lamin A/C) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2']
|
AGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCT
|
AGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTNN
|
pathogenic
| 15,831 |
Considering the genetic mutation at chromosome 1, position 156135953, impacting LMNA (lamin A/C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Cardiomyopathy', 'Charcot-Marie-Tooth_disease_type_2']
|
TACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGG
|
TACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGNN
|
pathogenic
| 15,832 |
Assess the variant on chromosome 1, position 156135965, impacting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']
|
ACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGG
|
ACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGN
|
pathogenic
| 15,835 |
The genetic variant at chromosome 1, position 156136074, affecting gene LMNA (lamin A/C): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
TTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTG
|
TTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTT
|
pathogenic
| 15,851 |
Does the variant impacting LMNA (lamin A/C) on chromosome 1, position 156136103, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']
|
CACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGC
|
CACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCNNNNNNNNNNNNNNNNN
|
pathogenic
| 15,858 |
Does the genetic variant at chromosome 1, position 156136289, impacting gene LMNA (lamin A/C), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']
|
GTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCC
|
GTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCN
|
pathogenic
| 15,884 |
For chromosome 1, position 156136317, gene LMNA (lamin A/C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2']
|
ATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCC
|
ATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCNN
|
pathogenic
| 15,889 |
The mutation in gene LMNA (lamin A/C) at chromosome 1, position 156136328—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']
|
TCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCTTGGGCACAGA
|
TCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCTTGGGCACAGANN
|
pathogenic
| 15,891 |
Located at chromosome 1 position 156136351, the variant affecting gene LMNA (lamin A/C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Cardiomyopathy', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']
|
ATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCTTGGGCACAGAACCACACCTTCCTGCCTGGCGGC
|
ATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCTTGGGCACAGAACCACACCTTCCTGCCTGG
|
pathogenic
| 15,893 |
Subsets and Splits
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