question
stringlengths 84
268
| answer
stringlengths 6
879
| reference_sequence
stringlengths 4.1k
4.1k
| mutated_sequence
stringlengths 4.1k
4.1k
| cleaned_pathogenicity
stringclasses 2
values | __index_level_0__
int64 67
343k
|
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 19, position 46756616, gene FKRP (fukutin related protein) variant? Disease(s) if pathogenic?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACA
|
TGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACANN
|
pathogenic
| 306,972 |
Evaluate this variant at chromosome 19, position 46756635, gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGA
|
TAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCG
|
pathogenic
| 306,976 |
A genetic alteration at chromosome 19, position 46756653, in gene FKRP (fukutin related protein)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Muscular_dystrophy-dystroglycanopathy_type_B5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAG
|
TATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATA
|
pathogenic
| 306,977 |
A mutation at chromosome position 46756704 on chromosome 19 in gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Walker-Warburg_congenital_muscular_dystrophy']
|
GAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCT
|
GAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTNN
|
pathogenic
| 306,981 |
A mutation at chromosome position 46756712 on chromosome 19 in gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
TGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTA
|
TGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTAN
|
pathogenic
| 306,982 |
Mutation found at chromosome 19 position 46756719, gene FKRP (fukutin related protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
ATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCC
|
ATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCTAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCC
|
pathogenic
| 306,985 |
Gene FKRP (fukutin related protein) variant at chromosome position 46756784 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACA
|
GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACAN
|
pathogenic
| 306,991 |
A genetic variant on chromosome 19, position 46756784, affects the gene FKRP (fukutin related protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACA
|
GCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACANN
|
pathogenic
| 306,992 |
Variant in gene FKRP (fukutin related protein), located at chromosome 19 position 46756863: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I', 'Cardiovascular_phenotype', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5', 'Walker-Warburg_congenital_muscular_dystrophy']
|
AGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCACCTGTAGTCCCAGCTACTCAG
|
AGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGN
|
pathogenic
| 307,003 |
Classify the chromosome 19 variant at position 46850722 affecting gene AP2S1 (adaptor related protein complex 2 subunit sigma 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
GCCTTCTCTCTTAGGAAAGAGAGCCCTCTAGTCCTGTCTTTTTCTTTTCTTTTTTGTTTTCAGACAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACTGTCTCGGTTCACTGCAACCTCTACCTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTACCTGGGATTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGCGAGTCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCTAGGCCAGTGGCACAATCTCGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCCACCACCACACCTGGCTTATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTATGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCCCCAGCCTGAGAGTCTTTCCTAAGCCTCATTCTCCACACACTCTATCCTCCCTCCCCCAACCAACCAAACTGGACCGGAACAGGATGTTACACTCTCCTTCCAAGAACTCCTGCTGAGCCAGGGAAAACCACTTCCTAGCAGGGCAGGGGTCCCAGGCAGGAAGGGACGTTGGGGGGCCTACACCAGGCAGCCACAGCCTGGGAGCAGAGCCGGAGACATATTCACACAGTTAGGAGAACTAGAAGCAAACCCACAGAGTTGACAAAAAGCTCTGCCTCTTACTCCCAAATTCCCTTGTATACCTCTCCCTGTTTTCTTCCCATTTGGAATCTCAAGTCCCCTCCGTCCTGAATCTCTGCATCCTCACGCCTCTGCTGTCCCCTCTAGATGCCCCCCAACCTTCCCTGTCTCCAATCCCCCTCCTCTGGAGTTGTTCCCTTTTGACCTCCACTTTCTCAGTCTCAGTTCCCCTCCTTGGGGCCTCAATGGGCTTTTTACTGGTGACATCCCTTGTCCCACTCCCAAGCTTCCTCCCTTCTTCAAAAGGTCACATTTTGCCTCCAAGGACCCTGTTCCTGGAGGAGACTCCGCCCCCGCTCTGACACTCTTTCTCATTCGTTTTCTTTCCCAACTTCCAGCCCAAAGAACCCTTTCCTAGATCCAAAGCCCCAACCTGGGGGATAGGGGCACTCCTAAATCCAATGTTGAGTCTTTGCCCCAACAAAGATTCCTCCCCAGGTCTCACACTTTCAAGCCTACTCCCCACCCCACAAGATCTCTCCTCTTGGAAAGACCTATTCAGTTGCTCCCCATTCTTTCCGAGTGTCCATCTTACCTCCAGGTCCTCTCTCCTTTTACAGCGCTTTCCCAGACCCTTAAGTTTCATTCCCTACAGTTGCCTCCTTTTGGTTTCCTGTGCCAGGTCTCTTCTTGAGATCATCCCTCTCTCACAGGCAGTCTCCTGCCCCTGTCTCAACATCCCCTCTCCACCTGCAATCAGATCCTTGTCTCTAGAGACTCCTCCCATCAAGAAAACCTCCCTCCCCTTTTCCAAGGTCTCGCGTTCTCGTCCCAGCGCTCCCGCCACACTTCCAGAGCGCCTTCCTCTTTCGGACGCCCTCTCCCCACCTCCAATGCCTTCTCGCTACCCACAAGACTGTGTCTCACGAGTTTCCTCTCGTTTCAAAGCTTCCAACCATCTACAACGTTTCCCACCTGCACAGCCCTTTCCCCTTGGAACACCACCCCCAATGCCCGTCGCCGCGAGACCCCTGGTAACCCCCGCGCGCAGAATCACCGCCCTGTGCCCTCCTTCCCGGCCCTGGATCGGTCCCAATCCCCAGAGCCCGCGCCTGACCCAGACCATCCGCGGCAGAGAAGGGACTTGTCAGCGCCCGATCCAGCCTCGGCTATTTACGCGTGGGCCCCCCCTCCGCCAGTCCCCGGCGTAGCGCTCCCCCGTTACCATGGCGACCCCCGTCCAGACCCCAGCGGCCCCGGTCCCGCGGCGACTGGGCAGCTCCGGCTCAGGGTGCAGTTGTAGGGCCCAGAGCTAGAGCGGACTTCCGGTAGAAAAACCCGCCTGCCTTCTCGCGCACAGACCCCTGGGAGTTGTAGTTTCACCAAAGGGGCCAGCCTGGGTGAAGATGGGTGAAGAGTCAGAGCCAGTCCTTTTCCTACCAAACGAGTCAGATCCCAAGTGCATGCTGGGATTTGTGGACAAACATCTTTACAGAGGACTACAATTCCCGAGATGCTGAAGAACCAGCGGTGAAGGCGTTGCATTCAGGGAAATGTAGTTCTCTTAGGTCCCCTCCCCCCACCCAGGGGAGAAGGGCATGCTGGGAATAGTAGTTTTAAATTTTAAAAAACTGTCCTGGGGAGATAGAAAATGTCTTTCCATTCCTCATCCAGTGATTTCTTTAATTTTTTTAAAAATAGAGACAGGGGTCTAGATATATTGCCTAGGTTGATCTCGAACTCAGCTTCAAGCGACCCTCAGCCTTCCAAATCACCAGGATTACAGGCATGAGCCACCACAACACCAAGCCAGTGTTTTGCTTAAAATACGTTGCGTGTGTCTCTCGGGAGACAACAGTTTAAAAGCATAAATTTGAACCGGCCCGGCGCGGTGGCTTACTCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGCAGATCACTTGGTTAGGAGTTCGAGACCAGCCTAGCCAGCATGGCGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAGCCCGGAGGCAGAGGTTGCAGTGAGCCCAGATCTCGCCACTGCACTCCAGCCTGGGCAATAGAGAGAGACTCCAAAAAAAAAAAAAAATCTCTAGTTTGGCGGGGGCATGATGGCCCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGTGGGTGGATCACCTAAGGTCAGGACTTCGAGACCAGCATGGCCAACACGGTGAAACCATTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCAGGTGCCTGTAATCCCAGCAACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCATTGCACCCTAGCTGGAATGACAAGAGCGAAACTCTGTCAAAAAAAAAAAAAACCCTCCAGGTCAGCAGTTAGTTTAGTGTTTTTTTGGTGTGTCTTTGTTTTTGCTTTTTTCTGAAAGAGGGTCTCCCTTGGTCACCCAGGCTGTAGCGCAGTGGCATGATCTCAGCTCACTGAAGCCTCAACCTGCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTGAGACTACATACACATGCCGTCACACCTGGCTAATTTTTTGTACTTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTAGGCTGCTCTTGAACTCCTGAGCTCAAGCGATCCTCCCTCCTCCACCTCCCAAAGTATTGAGATTACAGGCGTGATTTTTTAAATGGCCTTTATTACATTTTAAAAATTATTTTATTTGCCCTATGAGTATGTGTGTATGTTTGTCTAGATCTCTCATTAGGTAGTGAGTTGTTGAGGGCAGGGACCCTGTCTGATAACTGTATCTTCATTACCTAGAACATGACAGATGGTAAGCAGTCAATAAAGTTATTACTATTAGTACTGAGGGGAGATTGGCCCTAATAAGAACAAAGCATGCCAGGCATGGTGGCTCACTCCAGTAATCTCAGCACTTTGGAATGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACGTGGCGAAACAGCACCTCTAATAAAAATACAAAAATTGGCCGGGCTTGGTAGCACTTGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAAGCACTTGAACCC
|
GCCTTCTCTCTTAGGAAAGAGAGCCCTCTAGTCCTGTCTTTTTCTTTTCTTTTTTGTTTTCAGACAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACTGTCTCGGTTCACTGCAACCTCTACCTCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTAAGTACCTGGGATTACAGGCGCATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGCGAGTCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCTAGGCCAGTGGCACAATCTCGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATCCACCACCACACCTGGCTTATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTATGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCCCCAGCCTGAGAGTCTTTCCTAAGCCTCATTCTCCACACACTCTATCCTCCCTCCCCCAACCAACCAAACTGGACCGGAACAGGATGTTACACTCTCCTTCCAAGAACTCCTGCTGAGCCAGGGAAAACCACTTCCTAGCAGGGCAGGGGTCCCAGGCAGGAAGGGACGTTGGGGGGCCTACACCAGGCAGCCACAGCCTGGGAGCAGAGCCGGAGACATATTCACACAGTTAGGAGAACTAGAAGCAAACCCACAGAGTTGACAAAAAGCTCTGCCTCTTACTCCCAAATTCCCTTGTATACCTCTCCCTGTTTTCTTCCCATTTGGAATCTCAAGTCCCCTCCGTCCTGAATCTCTGCATCCTCACGCCTCTGCTGTCCCCTCTAGATGCCCCCCAACCTTCCCTGTCTCCAATCCCCCTCCTCTGGAGTTGTTCCCTTTTGACCTCCACTTTCTCAGTCTCAGTTCCCCTCCTTGGGGCCTCAATGGGCTTTTTACTGGTGACATCCCTTGTCCCACTCCCAAGCTTCCTCCCTTCTTCAAAAGGTCACATTTTGCCTCCAAGGACCCTGTTCCTGGAGGAGACTCCGCCCCCGCTCTGACACTCTTTCTCATTCGTTTTCTTTCCCAACTTCCAGCCCAAAGAACCCTTTCCTAGATCCAAAGCCCCAACCTGGGGGATAGGGGCACTCCTAAATCCAATGTTGAGTCTTTGCCCCAACAAAGATTCCTCCCCAGGTCTCACACTTTCAAGCCTACTCCCCACCCCACAAGATCTCTCCTCTTGGAAAGACCTATTCAGTTGCTCCCCATTCTTTCCGAGTGTCCATCTTACCTCCAGGTCCTCTCTCCTTTTACAGCGCTTTCCCAGACCCTTAAGTTTCATTCCCTACAGTTGCCTCCTTTTGGTTTCCTGTGCCAGGTCTCTTCTTGAGATCATCCCTCTCTCACAGGCAGTCTCCTGCCCCTGTCTCAACATCCCCTCTCCACCTGCAATCAGATCCTTGTCTCTAGAGACTCCTCCCATCAAGAAAACCTCCCTCCCCTTTTCCAAGGTCTCGCGTTCTCGTCCCAGCGCTCCCGCCACACTTCCAGAGCGCCTTCCTCTTTCGGACGCCCTCTCCCCACCTCCAATGCCTTCTCGCTACCCACAAGACTGTGTCTCACGAGTTTCCTCTCGTTTCAAAGCTTCCAACCATCTACAACGTTTCCCACCTGCACAGCCCTTTCCCCTTGGAACACCACCCCCAATGCCCGTCGCCGCGAGACCCCTGGTAACCCCCGCGCGCAGAATCACCGCCCTGTGCCCTCCTTCCCGGCCCTGGATCGGTCCCAATCCCCAGAGCCCGCGCCTGACCCAGACCATCCGCGGCAGAGAAGGGACTTGTCAGCGCCCGATCCAGCCTCGGCTATTTACGCGTGGGCCCCCCCCTCCGCCAGTCCCCGGCGTAGCGCTCCCCCGTTACCATGGCGACCCCCGTCCAGACCCCAGCGGCCCCGGTCCCGCGGCGACTGGGCAGCTCCGGCTCAGGGTGCAGTTGTAGGGCCCAGAGCTAGAGCGGACTTCCGGTAGAAAAACCCGCCTGCCTTCTCGCGCACAGACCCCTGGGAGTTGTAGTTTCACCAAAGGGGCCAGCCTGGGTGAAGATGGGTGAAGAGTCAGAGCCAGTCCTTTTCCTACCAAACGAGTCAGATCCCAAGTGCATGCTGGGATTTGTGGACAAACATCTTTACAGAGGACTACAATTCCCGAGATGCTGAAGAACCAGCGGTGAAGGCGTTGCATTCAGGGAAATGTAGTTCTCTTAGGTCCCCTCCCCCCACCCAGGGGAGAAGGGCATGCTGGGAATAGTAGTTTTAAATTTTAAAAAACTGTCCTGGGGAGATAGAAAATGTCTTTCCATTCCTCATCCAGTGATTTCTTTAATTTTTTTAAAAATAGAGACAGGGGTCTAGATATATTGCCTAGGTTGATCTCGAACTCAGCTTCAAGCGACCCTCAGCCTTCCAAATCACCAGGATTACAGGCATGAGCCACCACAACACCAAGCCAGTGTTTTGCTTAAAATACGTTGCGTGTGTCTCTCGGGAGACAACAGTTTAAAAGCATAAATTTGAACCGGCCCGGCGCGGTGGCTTACTCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGCAGATCACTTGGTTAGGAGTTCGAGACCAGCCTAGCCAGCATGGCGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAGCCCGGAGGCAGAGGTTGCAGTGAGCCCAGATCTCGCCACTGCACTCCAGCCTGGGCAATAGAGAGAGACTCCAAAAAAAAAAAAAAATCTCTAGTTTGGCGGGGGCATGATGGCCCATGCTTGTAATCCCAGCACTTTGAGAAGCTGAGGTGGGTGGATCACCTAAGGTCAGGACTTCGAGACCAGCATGGCCAACACGGTGAAACCATTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCAGGTGCCTGTAATCCCAGCAACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCATTGCACCCTAGCTGGAATGACAAGAGCGAAACTCTGTCAAAAAAAAAAAAAACCCTCCAGGTCAGCAGTTAGTTTAGTGTTTTTTTGGTGTGTCTTTGTTTTTGCTTTTTTCTGAAAGAGGGTCTCCCTTGGTCACCCAGGCTGTAGCGCAGTGGCATGATCTCAGCTCACTGAAGCCTCAACCTGCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTGAGACTACATACACATGCCGTCACACCTGGCTAATTTTTTGTACTTTTTGTAGAGACAGGGTCTTGCTATGTTGCCTAGGCTGCTCTTGAACTCCTGAGCTCAAGCGATCCTCCCTCCTCCACCTCCCAAAGTATTGAGATTACAGGCGTGATTTTTTAAATGGCCTTTATTACATTTTAAAAATTATTTTATTTGCCCTATGAGTATGTGTGTATGTTTGTCTAGATCTCTCATTAGGTAGTGAGTTGTTGAGGGCAGGGACCCTGTCTGATAACTGTATCTTCATTACCTAGAACATGACAGATGGTAAGCAGTCAATAAAGTTATTACTATTAGTACTGAGGGGAGATTGGCCCTAATAAGAACAAAGCATGCCAGGCATGGTGGCTCACTCCAGTAATCTCAGCACTTTGGAATGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACGTGGCGAAACAGCACCTCTAATAAAAATACAAAAATTGGCCGGGCTTGGTAGCACTTGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAAGCACTTGAACC
|
benign
| 307,036 |
Regarding the variant at chromosome 19 and position 47479918, affecting gene KPTN (kaptin, actin binding protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Inborn_genetic_diseases', 'KPTN-related_disorder', 'Macrocephaly-developmental_delay_syndrome']
|
GTCAACATGATAAAACCCCGCCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGACTTGCTTGAACCTGGGAGGCGGAGGTTGGAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAGAAAAAGAAAAAAAAAAAAAGAAACATGAATGAATAGGGGAAAGGTTTTGTGGGGACAGGTTCCAGGCTCCTCGTCATACCCCAGGCCCCTTTAATGAGAGACATGCAGGTTAGATCTCAGGAAAAAGTCTTGAGGCTGTGCTACACAGGGAGGGTTAGAGATTGGCCCATGAGACAAATTATAAGTCAGACACCAGAAGGAGAAATAGGTGTTAGATGATGGCTTAAAAAGTCTGAGGTTCTGGGTGTGGTGGCTCATGTAATCCCAGCACTTTTGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAAGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAACACAAAAATTAGCCTGGCATGATGGCATACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGATAGTGAGCCGAGATTGTGCCACTGCAACCAGCCTGACCAAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAGACATTTGTGCATGTATGTTTACAACAGCCCAATTCACAACTGCAAAGATGTGGAACTAACCTAAGTGGCCATTGACTAATGAGTGGAGAAAGAAAATGTGGTATATATACACCATGGAGTACTACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAGTGATTGAAATAATTTTTTTTTTCTTTTTTGAGATGGAGCCTGGCTCCGCCACCCAGGCTGGAGTGCAGTGGTGAGATCTCAGCTCACTGCCACTTCCACATCCTGGGTTCAATCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTCCACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGTCCGCTTCGGCCTCCCAAAGTGCTGGGATTACCGCGCCTAGTCAAAACTTTTTTAAAAAAGCAAAATGCCAGTCAGGGACAGACCCCAGTAAAGGAGCAGGAATGATCAACATATTGGGGGAAAAGGCTAGACTCTGAGTGGTGGGACAGCGGTGAGTCCAGGAGCATAGCCGGGAGCTAGAATGCAACAAGAGACACAGTGAAGGGGCCACAGAGCGGGGTGAGGAAATACCGATGTGAGACGTGCAGGTTAGAGTACAGAGGGAGAGGTGGATGCTCAGCCCCAGGGTACGGGGCTAAGGTTACACCAAAGTGAGGAGAACAACTATGGACCCTAACAGAAAAGATATGGGTTAGGCCCCATGTGCCAGTCCTGGAAGTTAAATTCACAAGAGGGGAGGGGAGGGAAGAGGTGCACTGTAGCTCAAGGCCTGGAGTGGGGGATCCAGGAGAGAGGGACTGGGGTCTGCACACTTTGGGAGAGGGGTGCAAATCTGGGTAGAAGGACCCAAGAATGCAGAGTTGCCTCTTCCCTCCCACCCGCTCTCTCCCCATCCCCTCAAACCCAGAGCTCACCCTTGGCGGCCGAGAGGCTGAACACAATCACTCGGGAGATGGGACCGTCCTGCAGGACCGACCACATCTGCAGAACCTCTGCGTGGAGAGCGAGGATTCAGAGCCCCAACCCCACCCCGGTCCCGCCCGCAGCCCTGAAACCATCGACTTTCCGCCCCCACCGTTCATCCCCACCCTAGCCCCGCCCCTCTGAAGCCCTCAACCCCACCCTAGCCCCGCCCCCAATCCCCACCCTCATCCCTTCCCCCACTTCCCCTACCTCACCCAGCAATAGCCCTCGGCCCCACCCTAGCCCCACCCGGCAAGCCCCACCCTCATCCCTCAACCCACTTATCCTCCTCCCCTACCCCACCCAGCTCCAGCCCTCAGCCCCACCCTGGCCCCGCCCTCTAGCCCTCAACCCCACCCCTTACCCCGCCTCACCGCGGCCCTCACCTCGACTCCGCTGGTCCACGTGGGCGACACGGACATAACCACTCTGACAGCCCAGAGCTGAGAGGCGCCGGGACGTGCCGGGGAAGTTGTGGACGTCCAGCCAGAGGACGCTGGCGGGCGGGTGGATGGACAGGACGGACGGCCATTGCTGGGCCCAGCCCCGCCCCTCTGCCTCCCCAGGGGCAGCCGCCCCTCCCTGTAGCCCTGGGACCCTGCTGCTTGATTCCTCCTGGATAATCCCCACCGCCCAATTCCTCTGAGGTCAATTCTCACCACCCGAGGGCTGAGTCCACCTCTTGTTTTTTCTGGGGTCACCCCTGCTGATCAATTTCTCTGAAGTCATGCCGTGGACTGATTTTTCTGAGCTCCTCCCCGGTGACCAATTTCTCTAAGGTCTCACCGCCCGATTTCTCTGATGTCAGTGCCCCGGTCCCCAGTGGCCTCTTTCGGGGCCTCTCCTACCTACTGGTCAGGTTCGTCAGCTCTGGGAAGAGGTTTTCCACGGGCTGTTCCTCAAACTGATGCAGCCCCTCGTTCTGGGGAAACCAAGACCCACCCCACCCCCGCTTAAGTCAGCCGTCAGCTTCACACATATACCCACCCAGCGCCAGCCCACAGTGAATCCCACAGGGCTCTGCCCAGCACGCCGCCCCACCTCACCTCCTTGTAGAGATGAATGGCCGGGTCGTTCCCACTCAAGAGAAACACAGTCTCAAGTTGATCCCCGACCTGGACCCTGAAAGCAGAGAAATCTAGAACCCAAGGTAGTGGAATCCACATGGTCTGAGAACCAGAACTCTCCTCTTGCAAAAACCCCTGCCTGTTGAGAACCTTAACATTCTGGGATCCAGACACTAGACCCAGGGTTAGAATCTCAGGGCTCAAGCTCCTGAGTACTGTATCTCCTTGAAATACATAACTGTAGAAACGAGCCCTCATAGAATCTCAAAATCAAGGAATGTACCTCCCAATCTCAGAATTGCGGGAACATGGCTTGCTAGAACCTCCCGCTCTTAGAGCCCGCATCTACTCCTACCTTCACTCTGTGGATTCAGGAATCGAATGTGGAACTCTAGAATGAACTGCAGAACCTTAGAAAGCTAGGACCTCTTCATTCTGAAACCCTGGTATTCTAGAAGTGCTGTTTTCTGTCTCCTTAAAAATACAAGAACTTCTAGAATTTGCCATCATAGATTTCAGATTCACGGAATGATAGAATATCCAAATCCTAGCAAGGAGAACATTAGTGCAATTAGAATCTTCAGTTTTGGGGACTCTCACCTGTTAGACCAGAGGTTGGCCAAGTTATGACCTGCAGACCAAATCCAACCCACCATCTGTTTTTGTAAATAAAGTTTTATTGGAACATAGCCACATCCATTCATTTATAGTGTCAATGGCTGCTTTCTGGCTACAATGGCAAAGTGAGTAGTTGTGACAGACTGGCCCTCAAAGCCTAATATTTACTATCTGGATCTCTACCAAAAAAAGTTTGCCAATCCCTGTTCTAGACCATCTGTGTTCTGGAATGGAATCTGGAACTCTAGAATGGAACCCACACACTTTGGGGTTCTAGCACCTTGGTATTCTAGATGCTCTATGTTCTATCTCCTCGAAAGATGAGAATGTCAGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCT
|
GTCAACATGATAAAACCCCGCCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGACTTGCTTGAACCTGGGAGGCGGAGGTTGGAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAGAAAAAGAAAAAAAAAAAAAGAAACATGAATGAATAGGGGAAAGGTTTTGTGGGGACAGGTTCCAGGCTCCTCGTCATACCCCAGGCCCCTTTAATGAGAGACATGCAGGTTAGATCTCAGGAAAAAGTCTTGAGGCTGTGCTACACAGGGAGGGTTAGAGATTGGCCCATGAGACAAATTATAAGTCAGACACCAGAAGGAGAAATAGGTGTTAGATGATGGCTTAAAAAGTCTGAGGTTCTGGGTGTGGTGGCTCATGTAATCCCAGCACTTTTGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAAGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCTGTGTCTACTAAAAACACAAAAATTAGCCTGGCATGATGGCATACACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGATAGTGAGCCGAGATTGTGCCACTGCAACCAGCCTGACCAAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAGACATTTGTGCATGTATGTTTACAACAGCCCAATTCACAACTGCAAAGATGTGGAACTAACCTAAGTGGCCATTGACTAATGAGTGGAGAAAGAAAATGTGGTATATATACACCATGGAGTACTACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAGTGATTGAAATAATTTTTTTTTTCTTTTTTGAGATGGAGCCTGGCTCCGCCACCCAGGCTGGAGTGCAGTGGTGAGATCTCAGCTCACTGCCACTTCCACATCCTGGGTTCAATCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTCCACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGTCCGCTTCGGCCTCCCAAAGTGCTGGGATTACCGCGCCTAGTCAAAACTTTTTTAAAAAAGCAAAATGCCAGTCAGGGACAGACCCCAGTAAAGGAGCAGGAATGATCAACATATTGGGGGAAAAGGCTAGACTCTGAGTGGTGGGACAGCGGTGAGTCCAGGAGCATAGCCGGGAGCTAGAATGCAACAAGAGACACAGTGAAGGGGCCACAGAGCGGGGTGAGGAAATACCGATGTGAGACGTGCAGGTTAGAGTACAGAGGGAGAGGTGGATGCTCAGCCCCAGGGTACGGGGCTAAGGTTACACCAAAGTGAGGAGAACAACTATGGACCCTAACAGAAAAGATATGGGTTAGGCCCCATGTGCCAGTCCTGGAAGTTAAATTCACAAGAGGGGAGGGGAGGGAAGAGGTGCACTGTAGCTCAAGGCCTGGAGTGGGGGATCCAGGAGAGAGGGACTGGGGTCTGCACACTTTGGGAGAGGGGTGCAAATCTGGGTAGAAGGACCCAAGAATGCAGAGTTGCCTCTTCCCTCCCACCCGCTCTCTCCCCATCCCCTCAAACCCAGAGCTCACCCTTGGCGGCCGAGAGGCTGAACACAATCACTCGGGAGATGGGACCGTCCTGCAGGACCGACCACATCTGCAGAACCGACCACATCTGCAGAACCTCTGCGTGGAGAGCGAGGATTCAGAGCCCCAACCCCACCCCGGTCCCGCCCGCAGCCCTGAAACCATCGACTTTCCGCCCCCACCGTTCATCCCCACCCTAGCCCCGCCCCTCTGAAGCCCTCAACCCCACCCTAGCCCCGCCCCCAATCCCCACCCTCATCCCTTCCCCCACTTCCCCTACCTCACCCAGCAATAGCCCTCGGCCCCACCCTAGCCCCACCCGGCAAGCCCCACCCTCATCCCTCAACCCACTTATCCTCCTCCCCTACCCCACCCAGCTCCAGCCCTCAGCCCCACCCTGGCCCCGCCCTCTAGCCCTCAACCCCACCCCTTACCCCGCCTCACCGCGGCCCTCACCTCGACTCCGCTGGTCCACGTGGGCGACACGGACATAACCACTCTGACAGCCCAGAGCTGAGAGGCGCCGGGACGTGCCGGGGAAGTTGTGGACGTCCAGCCAGAGGACGCTGGCGGGCGGGTGGATGGACAGGACGGACGGCCATTGCTGGGCCCAGCCCCGCCCCTCTGCCTCCCCAGGGGCAGCCGCCCCTCCCTGTAGCCCTGGGACCCTGCTGCTTGATTCCTCCTGGATAATCCCCACCGCCCAATTCCTCTGAGGTCAATTCTCACCACCCGAGGGCTGAGTCCACCTCTTGTTTTTTCTGGGGTCACCCCTGCTGATCAATTTCTCTGAAGTCATGCCGTGGACTGATTTTTCTGAGCTCCTCCCCGGTGACCAATTTCTCTAAGGTCTCACCGCCCGATTTCTCTGATGTCAGTGCCCCGGTCCCCAGTGGCCTCTTTCGGGGCCTCTCCTACCTACTGGTCAGGTTCGTCAGCTCTGGGAAGAGGTTTTCCACGGGCTGTTCCTCAAACTGATGCAGCCCCTCGTTCTGGGGAAACCAAGACCCACCCCACCCCCGCTTAAGTCAGCCGTCAGCTTCACACATATACCCACCCAGCGCCAGCCCACAGTGAATCCCACAGGGCTCTGCCCAGCACGCCGCCCCACCTCACCTCCTTGTAGAGATGAATGGCCGGGTCGTTCCCACTCAAGAGAAACACAGTCTCAAGTTGATCCCCGACCTGGACCCTGAAAGCAGAGAAATCTAGAACCCAAGGTAGTGGAATCCACATGGTCTGAGAACCAGAACTCTCCTCTTGCAAAAACCCCTGCCTGTTGAGAACCTTAACATTCTGGGATCCAGACACTAGACCCAGGGTTAGAATCTCAGGGCTCAAGCTCCTGAGTACTGTATCTCCTTGAAATACATAACTGTAGAAACGAGCCCTCATAGAATCTCAAAATCAAGGAATGTACCTCCCAATCTCAGAATTGCGGGAACATGGCTTGCTAGAACCTCCCGCTCTTAGAGCCCGCATCTACTCCTACCTTCACTCTGTGGATTCAGGAATCGAATGTGGAACTCTAGAATGAACTGCAGAACCTTAGAAAGCTAGGACCTCTTCATTCTGAAACCCTGGTATTCTAGAAGTGCTGTTTTCTGTCTCCTTAAAAATACAAGAACTTCTAGAATTTGCCATCATAGATTTCAGATTCACGGAATGATAGAATATCCAAATCCTAGCAAGGAGAACATTAGTGCAATTAGAATCTTCAGTTTTGGGGACTCTCACCTGTTAGACCAGAGGTTGGCCAAGTTATGACCTGCAGACCAAATCCAACCCACCATCTGTTTTTGTAAATAAAGTTTTATTGGAACATAGCCACATCCATTCATTTATAGTGTCAATGGCTGCTTTCTGGCTACAATGGCAAAGTGAGTAGTTGTGACAGACTGGCCCTCAAAGCCTAATATTTACTATCTGGATCTCTACCAAAAAAAGTTTGCCAATCCCTGTTCTAGACCATCTGTGTTCTGGAATGGAATCTGGAACTCTAGAATGGAACCCACACACTTTGGGGTTCTAGCACCTTGGTATTCTAGATGCTCTATGTTCTATCTCCTCGAAAGATGAGAATGTCAGGACTTTATCATTACAGAA
|
pathogenic
| 307,081 |
Does the variant impacting KPTN (kaptin, actin binding protein) on chromosome 19, position 47480760, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Macrocephaly-developmental_delay_syndrome']
|
TACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAGTGATTGAAATAATTTTTTTTTTCTTTTTTGAGATGGAGCCTGGCTCCGCCACCCAGGCTGGAGTGCAGTGGTGAGATCTCAGCTCACTGCCACTTCCACATCCTGGGTTCAATCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTCCACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGTCCGCTTCGGCCTCCCAAAGTGCTGGGATTACCGCGCCTAGTCAAAACTTTTTTAAAAAAGCAAAATGCCAGTCAGGGACAGACCCCAGTAAAGGAGCAGGAATGATCAACATATTGGGGGAAAAGGCTAGACTCTGAGTGGTGGGACAGCGGTGAGTCCAGGAGCATAGCCGGGAGCTAGAATGCAACAAGAGACACAGTGAAGGGGCCACAGAGCGGGGTGAGGAAATACCGATGTGAGACGTGCAGGTTAGAGTACAGAGGGAGAGGTGGATGCTCAGCCCCAGGGTACGGGGCTAAGGTTACACCAAAGTGAGGAGAACAACTATGGACCCTAACAGAAAAGATATGGGTTAGGCCCCATGTGCCAGTCCTGGAAGTTAAATTCACAAGAGGGGAGGGGAGGGAAGAGGTGCACTGTAGCTCAAGGCCTGGAGTGGGGGATCCAGGAGAGAGGGACTGGGGTCTGCACACTTTGGGAGAGGGGTGCAAATCTGGGTAGAAGGACCCAAGAATGCAGAGTTGCCTCTTCCCTCCCACCCGCTCTCTCCCCATCCCCTCAAACCCAGAGCTCACCCTTGGCGGCCGAGAGGCTGAACACAATCACTCGGGAGATGGGACCGTCCTGCAGGACCGACCACATCTGCAGAACCTCTGCGTGGAGAGCGAGGATTCAGAGCCCCAACCCCACCCCGGTCCCGCCCGCAGCCCTGAAACCATCGACTTTCCGCCCCCACCGTTCATCCCCACCCTAGCCCCGCCCCTCTGAAGCCCTCAACCCCACCCTAGCCCCGCCCCCAATCCCCACCCTCATCCCTTCCCCCACTTCCCCTACCTCACCCAGCAATAGCCCTCGGCCCCACCCTAGCCCCACCCGGCAAGCCCCACCCTCATCCCTCAACCCACTTATCCTCCTCCCCTACCCCACCCAGCTCCAGCCCTCAGCCCCACCCTGGCCCCGCCCTCTAGCCCTCAACCCCACCCCTTACCCCGCCTCACCGCGGCCCTCACCTCGACTCCGCTGGTCCACGTGGGCGACACGGACATAACCACTCTGACAGCCCAGAGCTGAGAGGCGCCGGGACGTGCCGGGGAAGTTGTGGACGTCCAGCCAGAGGACGCTGGCGGGCGGGTGGATGGACAGGACGGACGGCCATTGCTGGGCCCAGCCCCGCCCCTCTGCCTCCCCAGGGGCAGCCGCCCCTCCCTGTAGCCCTGGGACCCTGCTGCTTGATTCCTCCTGGATAATCCCCACCGCCCAATTCCTCTGAGGTCAATTCTCACCACCCGAGGGCTGAGTCCACCTCTTGTTTTTTCTGGGGTCACCCCTGCTGATCAATTTCTCTGAAGTCATGCCGTGGACTGATTTTTCTGAGCTCCTCCCCGGTGACCAATTTCTCTAAGGTCTCACCGCCCGATTTCTCTGATGTCAGTGCCCCGGTCCCCAGTGGCCTCTTTCGGGGCCTCTCCTACCTACTGGTCAGGTTCGTCAGCTCTGGGAAGAGGTTTTCCACGGGCTGTTCCTCAAACTGATGCAGCCCCTCGTTCTGGGGAAACCAAGACCCACCCCACCCCCGCTTAAGTCAGCCGTCAGCTTCACACATATACCCACCCAGCGCCAGCCCACAGTGAATCCCACAGGGCTCTGCCCAGCACGCCGCCCCACCTCACCTCCTTGTAGAGATGAATGGCCGGGTCGTTCCCACTCAAGAGAAACACAGTCTCAAGTTGATCCCCGACCTGGACCCTGAAAGCAGAGAAATCTAGAACCCAAGGTAGTGGAATCCACATGGTCTGAGAACCAGAACTCTCCTCTTGCAAAAACCCCTGCCTGTTGAGAACCTTAACATTCTGGGATCCAGACACTAGACCCAGGGTTAGAATCTCAGGGCTCAAGCTCCTGAGTACTGTATCTCCTTGAAATACATAACTGTAGAAACGAGCCCTCATAGAATCTCAAAATCAAGGAATGTACCTCCCAATCTCAGAATTGCGGGAACATGGCTTGCTAGAACCTCCCGCTCTTAGAGCCCGCATCTACTCCTACCTTCACTCTGTGGATTCAGGAATCGAATGTGGAACTCTAGAATGAACTGCAGAACCTTAGAAAGCTAGGACCTCTTCATTCTGAAACCCTGGTATTCTAGAAGTGCTGTTTTCTGTCTCCTTAAAAATACAAGAACTTCTAGAATTTGCCATCATAGATTTCAGATTCACGGAATGATAGAATATCCAAATCCTAGCAAGGAGAACATTAGTGCAATTAGAATCTTCAGTTTTGGGGACTCTCACCTGTTAGACCAGAGGTTGGCCAAGTTATGACCTGCAGACCAAATCCAACCCACCATCTGTTTTTGTAAATAAAGTTTTATTGGAACATAGCCACATCCATTCATTTATAGTGTCAATGGCTGCTTTCTGGCTACAATGGCAAAGTGAGTAGTTGTGACAGACTGGCCCTCAAAGCCTAATATTTACTATCTGGATCTCTACCAAAAAAAGTTTGCCAATCCCTGTTCTAGACCATCTGTGTTCTGGAATGGAATCTGGAACTCTAGAATGGAACCCACACACTTTGGGGTTCTAGCACCTTGGTATTCTAGATGCTCTATGTTCTATCTCCTCGAAAGATGAGAATGTCAGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCTATCTATACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGAGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGTAGAATCACTTGAACCAGGGAGGTAGAGGTTGCAGAGATCGAGCCACTGCACTCCAGCCTGGCAACAGAGCGAGCATCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGTGCAATGCTTTAAAAAACAAATGTAGAATCTGATTGTCTATGGACAAGTTCGTGGTCTCCAGTTAGCTACAGCTTTCCAACCTCAGCTGCATATGTGTGTGTGCACATGTGCTCCCTGTTATATTACATTTGTGCTTTCCATTCTCACATGACCTCTCTGGTCCCCAAAGGCATTTTAGTTTAATTTCATTTTATTTTATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTCACCCAGGTTGGAGTGCTGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAG
|
TACTCAAGTCATAAAAATGTTGTCTTTTGCAGCAACTTAGATGGAACTGGAGACCATTATTCTAAGTGCAGTAACATAGGAGTGGAAAACCAAAAAATGTATGTTCTCACAGAAGAGGGGGCCAACCTATGAGTATGCAAAGGCATACAGAGTGTATAATGGTGTTTGGAGATTCAGAAGCAGGAAGGTGGGAGGCGGTGTGGGATAGAAGCTACACATTAGGTACAACGGACACTAGCTGGGTGATGGGTGTGCTAAGATCTCAGAATCCATCACTATAGAATTCATCCATGCAACCAAAACCACTTGTGTCCCCGAAGTGATTGAAATAATTTTTTTTTTCTTTTTTGAGATGGAGCCTGGCTCCGCCACCCAGGCTGGAGTGCAGTGGTGAGATCTCAGCTCACTGCCACTTCCACATCCTGGGTTCAATCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCTCCACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCGTCCGCTTCGGCCTCCCAAAGTGCTGGGATTACCGCGCCTAGTCAAAACTTTTTTAAAAAAGCAAAATGCCAGTCAGGGACAGACCCCAGTAAAGGAGCAGGAATGATCAACATATTGGGGGAAAAGGCTAGACTCTGAGTGGTGGGACAGCGGTGAGTCCAGGAGCATAGCCGGGAGCTAGAATGCAACAAGAGACACAGTGAAGGGGCCACAGAGCGGGGTGAGGAAATACCGATGTGAGACGTGCAGGTTAGAGTACAGAGGGAGAGGTGGATGCTCAGCCCCAGGGTACGGGGCTAAGGTTACACCAAAGTGAGGAGAACAACTATGGACCCTAACAGAAAAGATATGGGTTAGGCCCCATGTGCCAGTCCTGGAAGTTAAATTCACAAGAGGGGAGGGGAGGGAAGAGGTGCACTGTAGCTCAAGGCCTGGAGTGGGGGATCCAGGAGAGAGGGACTGGGGTCTGCACACTTTGGGAGAGGGGTGCAAATCTGGGTAGAAGGACCCAAGAATGCAGAGTTGCCTCTTCCCTCCCACCCGCTCTCTCCCCATCCCCTCAAACCCAGAGCTCACCCTTGGCGGCCGAGAGGCTGAACACAATCACTCGGGAGATGGGACCGTCCTGCAGGACCGACCACATCTGCAGAACCTCTGCGTGGAGAGCGAGGATTCAGAGCCCCAACCCCACCCCGGTCCCGCCCGCAGCCCTGAAACCATCGACTTTCCGCCCCCACCGTTCATCCCCACCCTAGCCCCGCCCCTCTGAAGCCCTCAACCCCACCCTAGCCCCGCCCCCAATCCCCACCCTCATCCCTTCCCCCACTTCCCCTACCTCACCCAGCAATAGCCCTCGGCCCCACCCTAGCCCCACCCGGCAAGCCCCACCCTCATCCCTCAACCCACTTATCCTCCTCCCCTACCCCACCCAGCTCCAGCCCTCAGCCCCACCCTGGCCCCGCCCTCTAGCCCTCAACCCCACCCCTTACCCCGCCTCACCGCGGCCCTCACCTCGACTCCGCTGGTCCACGTGGGCGACACGGACATAACCACTCTGACAGCCCAGAGCTGAGAGGCGCCGGGACGTGCCGGGGAAGTTGTGGACGTCCAGCCAGAGGACGCTGGCGGGCGGGTGGATGGACAGGACGGACGGCCATTGCTGGGCCCAGCCCCGCCCCTCTGCCTCCCCAGGGGCAGCCGCCCCTCCCTGTAGCCCTGGGACCCTGCTGCTTGATTCCTCCTGGATAATCCCCACCGCCCAATTCCTCTGAGGTCAATTCTCACCACCCGAGGGCTGAGTCCACCTCTTGTTTTTTCTGGGGTCACCCCTGCTGATCAATTTCTCTGAAGTCATGCCGTGGACTGATTTTTCTGAGCTCCTCCCCGGTGACCAATTTCTCTAAGGTCTCACCGCCCGATTTCTCTGATGTCAGTGCCCCGGTCCCCAGTGGCCTCTTTCGGGGCCTCTCCTACCTATACTGGTCAGGTTCGTCAGCTCTGGGAAGAGGTTTTCCACGGGCTGTTCCTCAAACTGATGCAGCCCCTCGTTCTGGGGAAACCAAGACCCACCCCACCCCCGCTTAAGTCAGCCGTCAGCTTCACACATATACCCACCCAGCGCCAGCCCACAGTGAATCCCACAGGGCTCTGCCCAGCACGCCGCCCCACCTCACCTCCTTGTAGAGATGAATGGCCGGGTCGTTCCCACTCAAGAGAAACACAGTCTCAAGTTGATCCCCGACCTGGACCCTGAAAGCAGAGAAATCTAGAACCCAAGGTAGTGGAATCCACATGGTCTGAGAACCAGAACTCTCCTCTTGCAAAAACCCCTGCCTGTTGAGAACCTTAACATTCTGGGATCCAGACACTAGACCCAGGGTTAGAATCTCAGGGCTCAAGCTCCTGAGTACTGTATCTCCTTGAAATACATAACTGTAGAAACGAGCCCTCATAGAATCTCAAAATCAAGGAATGTACCTCCCAATCTCAGAATTGCGGGAACATGGCTTGCTAGAACCTCCCGCTCTTAGAGCCCGCATCTACTCCTACCTTCACTCTGTGGATTCAGGAATCGAATGTGGAACTCTAGAATGAACTGCAGAACCTTAGAAAGCTAGGACCTCTTCATTCTGAAACCCTGGTATTCTAGAAGTGCTGTTTTCTGTCTCCTTAAAAATACAAGAACTTCTAGAATTTGCCATCATAGATTTCAGATTCACGGAATGATAGAATATCCAAATCCTAGCAAGGAGAACATTAGTGCAATTAGAATCTTCAGTTTTGGGGACTCTCACCTGTTAGACCAGAGGTTGGCCAAGTTATGACCTGCAGACCAAATCCAACCCACCATCTGTTTTTGTAAATAAAGTTTTATTGGAACATAGCCACATCCATTCATTTATAGTGTCAATGGCTGCTTTCTGGCTACAATGGCAAAGTGAGTAGTTGTGACAGACTGGCCCTCAAAGCCTAATATTTACTATCTGGATCTCTACCAAAAAAAGTTTGCCAATCCCTGTTCTAGACCATCTGTGTTCTGGAATGGAATCTGGAACTCTAGAATGGAACCCACACACTTTGGGGTTCTAGCACCTTGGTATTCTAGATGCTCTATGTTCTATCTCCTCGAAAGATGAGAATGTCAGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCTATCTATACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGAGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGTAGAATCACTTGAACCAGGGAGGTAGAGGTTGCAGAGATCGAGCCACTGCACTCCAGCCTGGCAACAGAGCGAGCATCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGTGCAATGCTTTAAAAAACAAATGTAGAATCTGATTGTCTATGGACAAGTTCGTGGTCTCCAGTTAGCTACAGCTTTCCAACCTCAGCTGCATATGTGTGTGTGCACATGTGCTCCCTGTTATATTACATTTGTGCTTTCCATTCTCACATGACCTCTCTGGTCCCCAAAGGCATTTTAGTTTAATTTCATTTTATTTTATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTCACCCAGGTTGGAGTGCTGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCA
|
pathogenic
| 307,085 |
Mutation found at chromosome 19 position 47483976, gene KPTN (kaptin, actin binding protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Macrocephaly-developmental_delay_syndrome']
|
AGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCTATCTATACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGAGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGTAGAATCACTTGAACCAGGGAGGTAGAGGTTGCAGAGATCGAGCCACTGCACTCCAGCCTGGCAACAGAGCGAGCATCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGTGCAATGCTTTAAAAAACAAATGTAGAATCTGATTGTCTATGGACAAGTTCGTGGTCTCCAGTTAGCTACAGCTTTCCAACCTCAGCTGCATATGTGTGTGTGCACATGTGCTCCCTGTTATATTACATTTGTGCTTTCCATTCTCACATGACCTCTCTGGTCCCCAAAGGCATTTTAGTTTAATTTCATTTTATTTTATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTCACCCAGGTTGGAGTGCTGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGCATTTTAGTTTTCAATCCCTAATCTAGTACAACCTCTTTATTTTCCAGAAGGGGAAACAGACTACAGGGGTCTGTAAGTAAAGAAGGGGTTCGAGAAGCCAGGGTTTCTACATTTACAGTGGAGTGGGCGTCGATGCGCAGGGGACACTCACTCCGCATGGCACAGCTGGAACGGAGTGAACTGGAGCTCCAGGTTCAGGCAGCTCTCTGTAGGCAGGGCACAGGCAGGTTAGCATGGGGGACCTGCTGGGGACTCTCTCCCTCCTCCCGTCCACGCCTCACTCACGGGCAATAGAGTCAAGGTTGTACTCAGAGCCGGGCTCGTAGTCGCAGTAAATGTTCAGGAAGGGGCTGCCCTTGTCCCCTGAATCCTGGCGGAGGACACGGGGTTCAGGGGAGGGCAGGGGTGGCAGGAGGGATCCGGGGCGGCTCAGTGGAACTCACCATGTGTGTAAGGAGGAGGGCGAAGGGAGGTGGAGGGGGCTCTAGGTACCTTGATGAACGTGATCCCCACAACCAGACCCCGCTTGGGGGGTGACTTGTTGAAAGTGTCGATGGAGACAATCTCCGCATCCACTGGGAGGGGAGAGTTCTAAGTTCAGTGTCAGGCAGACTCATGCTTCCAATCTCCCCAACATGGTGAGCTCTGGCTACCGCAATGATCATGCCCTCTGGTCTGAGTCCTGACCACCATCACCTGATCTCTGTTCCCTGGGTACTAGGGATCCTGACCTGTAAGTCTGAAGAATCCTGAAACCCTAGGCTCATCCGGGCCCCAACTATGCCTGCCCGCTGATCCCAGTGACCCCCTTAAAACCACCTGATCCCATTCTTCCAGCACGGTGACCCGGCTCAGACAGAGCCTCAGAAGCCTTCTCAACACCACGTTCCAGGCCCCCGCCCCCCAGCACCATAGCGCCACCCACCGGGAATGTAGTTGAACTGCAGCTCCTTGGCCACTGGCCGGATTTTCTGTCGGAGGTCTTGGTAGCGGAAGCCGAGCACCTTGCCTTTAAGGGTGGCGGCCAGCAGCTCCCCGCGCCCGCCGGCGCCGCCTGCCAGCCCGTACACATTGCTCTGCGACGAGAAGCGCGTGAAGCTGTCCTCGCGCAACGGACAAGGCCCCGCGGCCACGGCCGCCTCCCCCATCATGCCCCTCAGTTAAGCACCCTCTCCGCAGCCCCCGCCCCAACCCGCACTACCCAACCTACGACTCTCTAAGCGACCTGAACCGCCGGGTGCCCGGCCGTTGCGCGGGCTGATGACGTACGGAAGCTGCCGGCGTTGCCCTCTCCCAAGATGGCGGCCAGGTCGCCTGCTCGGGCCTCCCAGGCGACTTTGCCCCACTGCGCCCGCGCTCTCTTCTCCTTTCCATTTCTGGACCAAGGGGCTGCCATAAGGAGTCTGTGACTAGAGATGGGAGGTGGTGGCCACGGCCTCTCGCTGTATGCTGTGTGGAAGGTCGAATCATCATCATCATAAAACTTAATATTGCCCTTATGTGCCAGGAACTACTGTAAGTGCATTCCATCTAATACTTTATTAAAAATTCGCAAGGGGGTGGAGGTAGGTACTTAAATCCATTTTAGAGATGAAGGAATTGAGGCACAGAGGGGTAAAGTAACTTGCCTAAGATCACACAGCTAGTAACGAGCGGTCAGTACTGGAAACCAAACAAGGTAACTCCACAGTTCACTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGCAGCTGGGATTACAGGCGCCACCACACCTGGCTAGTTTTTCTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTGGACCTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCCCCTTGCCCGGCCTATAGTTCATAATCTTAACAGTATCACCTTTAAAATAATTAATACATTCTTCTTGCCCCCAAGGAAAAATGATCCAGCTATAATAACCACCTCCTTTATCGAACACCTACTTGGTGACAGTCATGCTGGCTCTGATAATCTGATTCCTTACAACTGTTCTGCAAGGGCCTACTGTTACCCTCCCTGCCGGTTCACTTATTCAGGATTCATTGAGCTTTTACTATGTGCCCGGACGTCCTTTGCAAATCTGTCTCACTAATCTTTGCAAGAAAGAAACCTCTACAAAGAGGTTTATTATCCCAGTTTAGAGAGAATCAAATGGAGGCTCAGAAAGAGTAAGTCCACTGACTGATATGCTAGCAAGTGGTGGGGACAGGATGTAAACCAGGTGTTTCCGACTCTGGGGCCTTCAGGGGTTCCTGTCTGTGCTGCTTTGTCCCTAGAAGGCCATGGAGGTTTGGGTACTATGTGCACATCTGTGTATCATTTCCAGAAGACATGGGTTGGCCAGCTGTCCTGGACACCTCGAGCACACACAGACTGCAAGCTCCATGAAGGCAGCAGGCTGATCTCCCTTGATCACGGCCTTATCGCCTGTACCTGGAACACAAGGCCTGACACAAAGCAGGCATTCAGAAAATATGTGTCAAAAATCACAAACTATGTGCTGAGCATGTAAGAGACAGCTCTTACATGATGGAAAGTTCTCAAAGGCAGACTGGATAACGGAGGTGGCAAGGAATTTGTGATGATTCCAGATTTCTGGATGTGGAGAGTAGAAGTTCCTGGAGGGCAGTCTGGGAATGCCGTCAGTGCTGCTGTATTCCCAGGGCCTGGCATGCAGCAGGTGCTTAGTGAATATTCGCTGAGGGAGTGGCACGTGGGTCTAGTGCCACTTCAGCAGTGCGTTTCCTTCAGGCGTCTTCCCGCCCTAGTAACCTATAAGCCACATGTTGAGCGGATGAATGAAAAAATGAAGTTACAGGTTAGGAAGGAATCATCCTGTTAAGAGGTTTCCAATCCT
|
AGGACTTTATCATTACAGAACCTCAGAAGATTCTGGCTTCTATCGTACTGTAGAATATTCAAATGTTGGAATCTTAGAGCCTACGACTCTAGAAAACTTAGCATCTCTGATCTTGGAATGTCAGACTCTAGAACATTAGAATCTGGGAATTCTAGATGTGCAGAATTCCCAGAATTCACAGGTGCTCCATCAACTCTCTCAGATTATCTAGTTCAGGAATGGCAGTGTGGTGGCCCCTTGGCCATCCGGTCCATGGCCACCTTAAAAGCATGATGCTCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGCAAAAACCTATCTATACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGAGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGTAGAATCACTTGAACCAGGGAGGTAGAGGTTGCAGAGATCGAGCCACTGCACTCCAGCCTGGCAACAGAGCGAGCATCTATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAAAAGTGCAATGCTTTAAAAAACAAATGTAGAATCTGATTGTCTATGGACAAGTTCGTGGTCTCCAGTTAGCTACAGCTTTCCAACCTCAGCTGCATATGTGTGTGTGCACATGTGCTCCCTGTTATATTACATTTGTGCTTTCCATTCTCACATGACCTCTCTGGTCCCCAAAGGCATTTTAGTTTAATTTCATTTTATTTTATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTCACCCAGGTTGGAGTGCTGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGCTGGGATTACAGGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGCATTTTAGTTTTCAATCCCTAATCTAGTACAACCTCTTTATTTTCCAGAAGGGGAAACAGACTACAGGGGTCTGTAAGTAAAGAAGGGGTTCGAGAAGCCAGGGTTTCTACATTTACAGTGGAGTGGGCGTCGATGCGCAGGGGACACTCACTCCGCATGGCACAGCTGGAACGGAGTGAACTGGAGCTCCAGGTTCAGGCAGCTCTCTGTAGGCAGGGCACAGGCAGGTTAGCATGGGGGACCTGCTGGGGACTCTCTCCCTCCTCCCGTCCACGCCTCACTCACGGGCAATAGAGTCAAGGTTGTACTCAGAGCCGGGCTCGTAGTCGCAGTAAATGTTCAGGAAGGGGCTGCCCTTGTCCCCTGAATCCTGGCGGAGGACACGGGGTTCAGGGGAGGGCAGGGGTGGCAGGAGGGATCCGGGGCGGCTCAGTGGAACTCACCATGTGTGTAAGGAGGAGGGCGAAGGGAGGTGGAGGGGGCTCTAGGTACCTTGATGAACGTGATCCCCACAACCAGACCCCGCTTGGGGGGTGACTTGTTGAAAGTGTCGATGGAGACAATCTCCGCATCCACTGGGAGGGGAGAGTTCTAAGTTCAGTGTCAGGCAGACTCATGCTTCCAATCTCCCCAACATGGTGAGCTCTGGCTACCGCAATGATCATGCCCTCTGGTCTGAGTCCTGACCACCATCACCTGATCTCTGTTCCCTGGGTACTAGGGATCCTGACCTGTAAGTCTGAAGAATCCTGAAACCCTAGGCTCATCCGGGCCCCAACTATGCCTGCCCGCTGATCCCAGTGACCCCCTTAAAACCACCTGATCCCATTCTTCCAGCACGGTGACCCGGCTCAGACAGAGCCTCAGAAGCCTTCTCAACACCACGTTCCAGGCCCCCGCCCCCCAGCACCATAGCGCCACCCACCGGGAATGTAGTTGAACTGCAGCTCCTTGGCCACTGGCCGGATTTTTCTGTCGGAGGTCTTGGTAGCGGAAGCCGAGCACCTTGCCTTTAAGGGTGGCGGCCAGCAGCTCCCCGCGCCCGCCGGCGCCGCCTGCCAGCCCGTACACATTGCTCTGCGACGAGAAGCGCGTGAAGCTGTCCTCGCGCAACGGACAAGGCCCCGCGGCCACGGCCGCCTCCCCCATCATGCCCCTCAGTTAAGCACCCTCTCCGCAGCCCCCGCCCCAACCCGCACTACCCAACCTACGACTCTCTAAGCGACCTGAACCGCCGGGTGCCCGGCCGTTGCGCGGGCTGATGACGTACGGAAGCTGCCGGCGTTGCCCTCTCCCAAGATGGCGGCCAGGTCGCCTGCTCGGGCCTCCCAGGCGACTTTGCCCCACTGCGCCCGCGCTCTCTTCTCCTTTCCATTTCTGGACCAAGGGGCTGCCATAAGGAGTCTGTGACTAGAGATGGGAGGTGGTGGCCACGGCCTCTCGCTGTATGCTGTGTGGAAGGTCGAATCATCATCATCATAAAACTTAATATTGCCCTTATGTGCCAGGAACTACTGTAAGTGCATTCCATCTAATACTTTATTAAAAATTCGCAAGGGGGTGGAGGTAGGTACTTAAATCCATTTTAGAGATGAAGGAATTGAGGCACAGAGGGGTAAAGTAACTTGCCTAAGATCACACAGCTAGTAACGAGCGGTCAGTACTGGAAACCAAACAAGGTAACTCCACAGTTCACTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGCAGCTGGGATTACAGGCGCCACCACACCTGGCTAGTTTTTCTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTGGACCTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTAGGATTATAGGCGTGAGCCCCCTTGCCCGGCCTATAGTTCATAATCTTAACAGTATCACCTTTAAAATAATTAATACATTCTTCTTGCCCCCAAGGAAAAATGATCCAGCTATAATAACCACCTCCTTTATCGAACACCTACTTGGTGACAGTCATGCTGGCTCTGATAATCTGATTCCTTACAACTGTTCTGCAAGGGCCTACTGTTACCCTCCCTGCCGGTTCACTTATTCAGGATTCATTGAGCTTTTACTATGTGCCCGGACGTCCTTTGCAAATCTGTCTCACTAATCTTTGCAAGAAAGAAACCTCTACAAAGAGGTTTATTATCCCAGTTTAGAGAGAATCAAATGGAGGCTCAGAAAGAGTAAGTCCACTGACTGATATGCTAGCAAGTGGTGGGGACAGGATGTAAACCAGGTGTTTCCGACTCTGGGGCCTTCAGGGGTTCCTGTCTGTGCTGCTTTGTCCCTAGAAGGCCATGGAGGTTTGGGTACTATGTGCACATCTGTGTATCATTTCCAGAAGACATGGGTTGGCCAGCTGTCCTGGACACCTCGAGCACACACAGACTGCAAGCTCCATGAAGGCAGCAGGCTGATCTCCCTTGATCACGGCCTTATCGCCTGTACCTGGAACACAAGGCCTGACACAAAGCAGGCATTCAGAAAATATGTGTCAAAAATCACAAACTATGTGCTGAGCATGTAAGAGACAGCTCTTACATGATGGAAAGTTCTCAAAGGCAGACTGGATAACGGAGGTGGCAAGGAATTTGTGATGATTCCAGATTTCTGGATGTGGAGAGTAGAAGTTCCTGGAGGGCAGTCTGGGAATGCCGTCAGTGCTGCTGTATTCCCAGGGCCTGGCATGCAGCAGGTGCTTAGTGAATATTCGCTGAGGGAGTGGCACGTGGGTCTAGTGCCACTTCAGCAGTGCGTTTCCTTCAGGCGTCTTCCCGCCCTAGTAACCTATAAGCCACATGTTGAGCGGATGAATGAAAAAATGAAGTTACAGGTTAGGAAGGAATCATCCTGTTAAGAGGTTTCCAATCC
|
pathogenic
| 307,090 |
Is the variant located on chromosome 19 at position 47834546, gene CRX (cone-rod homeobox), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7']
|
TTTCTTTTTTTTGAGACGGAGTCCGTAGCCCAGGCTGGGGTGTGGTGGCACCATTTTGGCTCACTACAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCCCTGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAATCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCATAAATGCGATTTTCATTCCCATTTTCCAACAAGGCGACTGAGGTATACATTGAAGGTGAATTACTAGGACAAAAGAAAGATGGCATTTTACTTCAATAACAGTTTGTTACAACCTGTACTGCTACCTATCTGCCATGGGAGTGTGCCTTTCCCCACACTGACACCAGTGCTGGAAGTTATCAACCTCCTTCATCTTTGCCAACCTGATAGGTCAAAAGTGATCATGGAAGATCCACACTCGCTTTTTTTTTTTTTTTTTTTTTGAGATAGGGGTCTATTTCTTTTTCTTTTTTCAGAGATGGGGGGTCTCACTATTTCTTTTTCTTTTTTTCAGAGATGGGGGTCTCACTATGTTGCCTAGGCTGGTTTTGAACTTCTGGGCTCAAGTGATTCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCTTGCTTAGCCCTTACTGTCGTTTTTTTGTTTGTTTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTTAGGTGATCCATCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCTGGCCCTTACTGTTGGTTTAATGCCACTCTCCCTTAGGGTGACCAACCAATCCAGTTTGCCTGGGACCATTCTGGCTCTAGCACTGAAAGTCCTGTGTTCCAAGAAACACCCACCTCTCCTCCAACCTGGGCAAAGAGGGACGGTTGGTCAACCTGCAGTCCTGGGTTATAAGTGAGGCTGAGCGTGTTTGCCCATGGTCAAGAAAGAAGGGATCTTGGATGAGGGTGTGTAACAGGATCAGATTTGTTTTGTTTTTTTCTTAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAATGGCCTGAACACAGCTCACTGCAGCCCCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGGGTAGCTGGGATTACAGGCATGCATCACCACACCCAGTTAACTTTTTAAAGAACACTTTTTTTTTTTTTTTAAGAGACAGGGTCTTGCTATGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATGACAGATGTGAGCCATTGTGCCTAGCCAGGACGAGATTTTTAGAGGGTAGAGTAGGAATAAGAGCTTGCACTTATGAGGCACATGATGGCTTCAGCTGTCTGCTTTGCAGAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGG
|
TTTCTTTTTTTTGAGACGGAGTCCGTAGCCCAGGCTGGGGTGTGGTGGCACCATTTTGGCTCACTACAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCCCTGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAATCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCCATAAATGCGATTTTCATTCCCATTTTCCAACAAGGCGACTGAGGTATACATTGAAGGTGAATTACTAGGACAAAAGAAAGATGGCATTTTACTTCAATAACAGTTTGTTACAACCTGTACTGCTACCTATCTGCCATGGGAGTGTGCCTTTCCCCACACTGACACCAGTGCTGGAAGTTATCAACCTCCTTCATCTTTGCCAACCTGATAGGTCAAAAGTGATCATGGAAGATCCACACTCGCTTTTTTTTTTTTTTTTTTTTTGAGATAGGGGTCTATTTCTTTTTCTTTTTTCAGAGATGGGGGGTCTCACTATTTCTTTTTCTTTTTTTCAGAGATGGGGGTCTCACTATGTTGCCTAGGCTGGTTTTGAACTTCTGGGCTCAAGTGATTCTCCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCTTGCTTAGCCCTTACTGTCGTTTTTTTGTTTGTTTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTTAGGTGATCCATCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCTGGCCCTTACTGTTGGTTTAATGCCACTCTCCCTTAGGGTGACCAACCAATCCAGTTTGCCTGGGACCATTCTGGCTCTAGCACTGAAAGTCCTGTGTTCCAAGAAACACCCACCTCTCCTCCAACCTGGGCAAAGAGGGACGGTTGGTCAACCTGCAGTCCTGGGTTATAAGTGAGGCTGAGCGTGTTTGCCCATGGTCAAGAAAGAAGGGATCTTGGATGAGGGTGTGTAACAGGATCAGATTTGTTTTGTTTTTTTCTTAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAATGGCCTGAACACAGCTCACTGCAGCCCCAAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGGGTAGCTGGGATTACAGGCATGCATCACCACACCCAGTTAACTTTTTAAAGAACACTTTTTTTTTTTTTTTAAGAGACAGGGTCTTGCTATGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATGACAGATGTGAGCCATTGTGCCTAGCCAGGACGAGATTTTTAGAGGGTAGAGTAGGAATAAGAGCTTGCACTTATGAGGCACATGATGGCTTCAGCTGTCTGCTTTGCAGAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTTTATACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGG
|
pathogenic
| 307,107 |
Gene mutation in CRX (cone-rod homeobox) at chromosome 19, position 47839468—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7']
|
GCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGG
|
GCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGN
|
pathogenic
| 307,128 |
The mutation impacting CRX (cone-rod homeobox) on chromosome 19 at position 47839496: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy']
|
TGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTAC
|
TGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACNNNN
|
pathogenic
| 307,129 |
The mutation in gene CRX (cone-rod homeobox) at chromosome 19, position 47839497—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy']
|
GAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACA
|
GAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACANNNNNNNNNNNNN
|
pathogenic
| 307,130 |
Clinical significance of chromosome 19, position 47839566, gene CRX (cone-rod homeobox): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Cone-rod_dystrophy_2', 'Inborn_genetic_diseases', 'Leber_congenital_amaurosis_1', 'Leber_congenital_amaurosis_7']
|
CTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGA
|
CTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGANN
|
pathogenic
| 307,133 |
Mutation found at chromosome 19 position 47839652, gene CRX (cone-rod homeobox): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy']
|
TATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGG
|
TATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGN
|
pathogenic
| 307,137 |
Variant in gene CRX (cone-rod homeobox), located at chromosome 19 position 47839653: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy', 'Stargardt_disease']
|
ATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGC
|
ATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCN
|
pathogenic
| 307,138 |
Considering the genetic mutation at chromosome 19, position 47839658, impacting CRX (cone-rod homeobox): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy']
|
GTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCA
|
GTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCANNNNNNNNNNNNN
|
pathogenic
| 307,139 |
Variant on chromosome 19, at position 47839677, affecting CRX (cone-rod homeobox): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7', 'Retinal_dystrophy']
|
TATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGAC
|
TATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACN
|
pathogenic
| 307,140 |
Variant in gene CRX (cone-rod homeobox), located at chromosome 19 position 47839723: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Benign_concentric_annular_macular_dystrophy', 'Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7']
|
ATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGC
|
ATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCN
|
pathogenic
| 307,143 |
Is the chromosome 19, position 47839727 variant in CRX (cone-rod homeobox) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Benign_concentric_annular_macular_dystrophy', 'Cone-rod_dystrophy_2', 'Leber_congenital_amaurosis_7']
|
ATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCCTTC
|
ATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCCTTCN
|
pathogenic
| 307,144 |
The genetic variant at chromosome 19, position 47840274, affecting gene CRX (cone-rod homeobox): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
ATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCCTTCTCAGTCCGAGTTCTCCTTTCATTTTTGGGTGGGGAGGCGGGTTCCAAGAGCCCTTCATTGGTGGAGTTCACAAGGCAAGGTGTAAAAAAAAAAGTAGGGCAGGAAGACAGTGGTGTGCTGGCAGAGGTCTAACAATGGGCTCTCCAAGGAAGAGGAAAAGGTTGGTTGTGGAGTGTTTGTCAGTTTCCGTGGTGTAAATACTCCCACCACGGCTGACTTCAAGCTAGCAACCGGAGGTCACTGAACTAAGAGTTGGGAAGAGATAGGGCACAATATATGCTTACGAGTTGGTACACACCGTCAGCAGCAGCCAGGGTCAGGAGAAAGGCGAGATGTGAAGAGAGGCCGGGAGGTATCAGATGACGTTTCCAGCACTAGACCAGAAGAGGTGCACACAGCCTAGACCCCCTGAGGGGTACACCCTGATCTCTAGAGCCCACAAAGAGGTTTTTATTCAACATAAAACGTGTTCATCTCTCATAGGCCTGAGTCATGCTGGGTTCTGGGACATTAAGCCCAGGAGTGGGCCGGGTGCGGTGGCTCACGC
|
ATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATATGTATGATGTATGTGTGTACAATGTATGTATGTATAATTGTATGTTTGTATGATCAGATGGATGGATGAATGTGTATGATGTATATATGTATGATCAGATGGCTCCATTAATGCATGTATGATGTATGCGTGTATGATGCATGTACACTTGCATGTATGATCAGATGAGCCAGTGAATGTATGTATGATGTATATGTGTATGATGTATGTATGTATGATCAGATAGATGGGTAAACGTATGCATGATGTATGTGCGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATAGATGGGTAAATGCAGGCATGATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGTGTGCATGTTTGTATTAGATGGATGGATGAAAATGTGTATGATGTACGTATGATCATATAGATGGGTAAATGTATGCATGATATATGTGCGTATGGTGTATATATGTATAACTGTACGTGTGCATGTTTGTATTAGATGGGTGGATGAATATGTGTATGATGTATGTATGATCATATCGATGGGTAAATGCAGGCATGATGTATGTGCGTATGGTGTATGCATGTATAATTGTACGTGTGCATGTTTGCATTAGACGGATGGGATGAATGCACATGGGTATGATGTATGCATGTGTTCATGCACACATGCAGGTATGATTGGATGGATAGATGGATGGATGGGTGAATAGACGCCCCACAGCTGGATGCAAAGTAGACAGATGTGAACCCAGCACCTCTCACCAATAAGTGTCCTCATCCCCGGGCACCCTGCGGCTCTCCTGGGCCTCTTCCCCACTTACCCACCCCCATCTCCGCTCTTATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCGACAGCAGCAGAAACAGCAGCAGCAGCCCCCAGGGGGCCAGGCCAAGGCCCGGCCTGCCAAGAGGAAGGCGGGCACGTCCCCAAGACCCTCCACAGATGTGTGTCCAGACCCTCTGGGCATCTCAGATTCCTACAGTCCCCCTCTGCCCGGCCCCTCAGGCTCCCCAACCACGGCAGTGGCCACTGTGTCCATCTGGAGCCCAGCCTCAGAGTCCCCTTTGCCTGAGGCGCAGCGGGCTGGGCTGGTGGCCTCAGGGCCGTCTCTGACCTCCGCCCCCTATGCCATGACCTACGCCCCGGCCTCCGCTTTCTGCTCTTCCCCCTCCGCCTATGGGTCTCCGAGCTCCTATTTCAGCGGCCTAGACCCCTACCTTTCTCCCATGGTGCCCCAGCTAGGGGGCCCGGCTCTTAGCCCCCTCTCTGGCCCCTCCGTGGGACCTTCCCTGGCCCAGTCCCCCACCTCCCTATCAGGCCAGAGCTATGGCGCCTACAGCCCCGTGGATAGCTTGGAATTCAAGGACCCCACGGGCACCTGGAAATTCACCTACAATCCCATGGACCCTCTGGACTACAAGGATCAGAGTGCCTGGAAGTTTCAGATCTTGTAGAGGACGCAGTCTCCATCTCTCTCCATCGGGCCTCGGGACCCTTTCTCTTCTGAATCTGCTTCCCTGCAGTTTAGATCCCGGGATGGCATTCCTGAGAAAGCAACCCGAACCAGCTGTCCTTCTGACAGCTCGGTGTTCAGCTTACAGAGACCACCCCTTTCCTCCACAGGGAGAGGCTCCTCCCTCTCCTGGGACAGCTCACAGGTCCTAGTGATTCTCTCAACCCTAACACCGTCTGGCACGATTGTGACCGCTGAAGTACACCACGAGCTCCAGGCTTCAGAAAGTGGTGCTGAGAACTTGCTCCAAGAAGTCAAACCAAACTTGCAGTTGATTTGGGGTCATGTTTAGGTCAGAATCACCGTGCCCTTGAACAAGCAGGTAGGGGGGCTTGATAACTTAACTTTCCACGTGGACAGAATTTTTTTTTTTGTTTTGTTTTTGTTTTGCAGACACAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGATGCCCACCACCAGGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTTTTTTTTTAATTGAGACGGAGTCTCACTCTTTTGCTTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGACTGCAACCTCCACCTCCCGGGTTGAAGCGTTGCTCCTGCCTCAATCTCCCAATTAGCTGGGATTACAGGTGTGCTCCATCATGCCCGGCTAATTTTTCTATTATTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATTGTGCCTGGCCCTACACGTGGACACTTCTTTAGCATATGGTTAGGGACCTTTCTAGAAATTCCAAAGACAGACTTTAAGAAGCCCCGTCGGGAAACCTTAGGCCAATGATGTGGTTACATTAAAAATAAATTATCTGGGAATTTCACAGACTTCACAAATGTCAGGCTTACATGGTAGGTTTAGGGGACCGTTTGAGAGACAAAGATCTACATTCATATATGTAGCTATACATATATGTACTTTTTCTTCTTAGTTTCTTTTTAAAGACATTTTATCACTCATTCGCTCATTAGCACATTGGGAATGTGTGTATTTGGTAGGGAAATGAAAGGCACCTTGCCTGTTCCATCTCTACTCCTTTTTTCTTTTGTTTTAGGATTTTCTAAAGGTGAGACACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTATAGTTGTGGCTATTTCACAGAGAAGCAGCAGCTAGACAGACTCCCATCTGTAAATAAACAAGAGATAGGAAGAGGGGGAAATAGATTTGGAGGAGGCAGCCCTACATTTCAAACATACATTCCCTTTTTTAGATTTTTTTTTTTTTTTTTTTGGTTTTCAGTTTTGATGGTGGGATTGGAAAATAGAGCTTGGCTTGAGGACATTTTCCTGGGGTGGCACCATTATTTCTTGAAATAGAATCTTACTTATGGTGACACTGGCAAGCACTTGTGAGAACCTGAAGACGGATTGAGGTCATTTGATGCTCAGAAGTTGGGTGCTGGGTCCCTGCCTTCTCAGTCCGAGTTCTCCTTTCATTTTTGGGTGGGGAGGCGGGTTCCAAGAGCCCTTCATTGGTGGAGTTCACAAGGCAAGGTGTAAAAAAAAAAGTAGGGCAGGAAGACAGTGGTGTGCTGGCAGAGGTCTAACAATGGGCTCTCCAAGGAAGAGGAAAAGGTTGGTTGTGGAGTGTTTGTCAGTTTCCGTGGTGTAAATACTCCCACCACGGCTGACTTCAAGCTAGCAACCGGAGGTCACTGAACTAAGAGTTGGGAAGAGATAGGGCACAATATATGCTTACGAGTTGGTACACACCGTCAGCAGCAGCCAGGGTCAGGAGAAAGGCGAGATGTGAAGAGAGGCCGGGAGGTATCAGATGACGTTTCCAGCACTAGACCAGAAGAGGTGCACACAGCCTAGACCCCCTGAGGGGTACACCCTGATCTCTAGAGCCCACAAAGAGGTTTTTATTCAACATAAAACGTGTTCATCTCTCATAGGCCTGAGTCATGCTGGGTTCTGGGACATTAAGCCCAGGAGTGGGCCGGGTGCGGTGGCTCACGCNNN
|
benign
| 307,150 |
Evaluate this variant at chromosome 19, position 48156986, gene LIG1 (DNA ligase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
CCACACCACATACTCCACCTTCTTTTATATCACTGCTAAACTGGGGTGTTTCCAGACACACCAAGCTGTGTCACCCCTCCAGGCCTCAGCATGTGAGGTTTGGGACATAGCTCAATGTTGCTCCCTCTGAACAAGATCCCCTGACACACCCCCAGGGCCAACCTCAGCGTCCACCTGGAGCTCCCAGCATGCCCTCAGCCACACTGTGACTTCCTTATGGCCACCTTTCATTCAGGGATGAACCTGCCTCCCCACCTCACAGCCCTTCCATGGCTCCCAGGACCCACAGCACGAAGCCCAGGCTCCTTAGCTGGGAGTGCAAGACCTTTTGAGATCCAGCCCCCACTCTCCTCTCTAGCTCACCTCTCACCACGTGCTATCCTCAAACTCTCCCTGCTTCCCAGGTCGCATCCGATTCTCCAGAAACAAGGAAGTAGATGAGAGGCCCCAAACATCCCATGCTGTTCCCATCTCGAGGCCTCTGCACGTGCCCTTCTTGTCTGAAATGCATGCATCTGTCCTTTCTCAACATGGCCAACCCCAACCCATCTTCTAAGACTCGGCTCAGCCATCACCTCCCCTGGGCTGCTTGACTTCTGAGCTCCCAGAGTACCCTGCGTCACCCAGCATCGTCCGATGGAAAGATCTGGCAAGCCACGTATGTAACCTTAAACTTTCTTGCAGCCACGTTAATAAAAAGGGGGAAAAAACCAGGTTGAACTTGGTTTGAAGAGTCTATTTTGCTCAATACATCTAAAACAGTATGATTCCAACATTCTGTTTTCATGCTAGGTCTTCAAAATCCAATGAACTCACTGCACATCTCAAGTTGGACACCAGATTTTCATCGGCAACATGATCTGTGTAGGTTTCATAAAATGTACAGCTATTCACATACCAAAGCTGTTCCAAAATGATGTGGAAAAAGTGCAAAGTCTTTACGCACTGAATCACATATTAGCTTTCAAATGTAAATTCAACTGAAAGGATCTAACATGAAAGATTCAGCTCCCCTGTCACACTCACCACGCTAAAGCGCTCAATAGGCTAGACCGGACGGCAAGGGCTCACACTGCCCCGCATTACGAATGGGTCTCTCGCCCTGTTCTTACCCCACAGCAAACATTCCAAGTCCCCCTTAGGACAAAGACGCTGTTCCCCAAGCTGGTTTTCCAGGACCTTCTCACCTCATTGCTCACCATCCCCAATCCTGCGCTCTACACGCCAGCACACCAGGCCCTCAGCAGCCCCCAGGCCTTCTCAATTTCTATGTTCCCCTTGCCTAGCATGCTCCCCTCCTCCTTTGCTTGTTGCCTCTTCTTTGTCCTAAAGGGCTCAGCTTGGTTAGCCTCTCTTCTGGAAGTCTCCCTTGAGCCATGGCCCCGCGCTTGTGTTCCCACATGAGCTGTGAGGCCTCCATCTCAGCGCATAACTACAGTCACAATGACCCACAATGACTGAGCCCCGACTGAGGGCTGGGCCCAGTTCTGAGCAGCGTACACGTGTTATCTTCTAACTCAGATATTTCTGTGCGGTAGGTGCTATCATTATCATCATCTCTACAGATAAAGCAACCTAAGCTCAGAGAAGGTCAGTCATTTGTCCCAGGTCATACAGCCAGTGGATGGTGGACCCGTGCTCTTAACCACAACACTAAGACCAGAGCTGTTGTAAGGATGACTACCTTGGATGGGAATCCAAGTGGGGAGAAAGGCAGGCGACTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGTTTGAACCCGGGAGGCGGAGGTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCGAGACTATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAGGCAGGCGACTGAAGGGGCAGGGGCCCGTGTGTTCTCACCTGTGCGACGCTTCGGAATCCCTGATGGGGAACTGTCCATGGGAGAGGTGTCAGAGAGGGAAGCATTGTTCTCAGGAGATGTGGCAGGACGGGGCGGGGAGACCTGTGAGCAGTCCAGGGCAGGCTTCTGGAAGAGGAAAGAACAGTTCTAGAGTGAGCGGGGGAAGGAGGGACTCCATTTTCCAAAAGTTGAGAGTAGAGGGGACTGAAACCTCTCTGTCTACCCTCCTTTCTGACCCTATGGTCTCAGCCCTAACTCAGGGGTGGCCTCTTCTCACCTGGGCCATCATCCCGCCCTCCAGTGCAGGATCATGGTCCCATCAAGGACCCCCATAGCTCTTCTGTTTTCTACAGTAACAGAATCTTCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCCTGCACTACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCTCTACACAATGGGATGTCAGGGGAAATGATGTACACCTCTTCGTATAGTTTTATTTTTATTTATTTATTTATTGAGACAGGGTGTCATTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGCAACTGGGATAACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTTTTATAGAGATGGGGCTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCGATCCTCCCGCCTTGGCCTCCAGAGCACTGAGAATACAGGCGTGAGCCCCCGTGCCCAGCCTTCTCTCCATACAGTTTAGATGTTTGTTCCCTCCAGATCGCATGTTGCAATTTGGTCTCCAATGTTGGAGGTATGACCTGGCGGGAGGCATTCAGGTCACGTGGGCAGATCCCTCATGAATGGCTTGTACCCTCCTTGTGGTAGGAACCGAGTTCTTCCTCTCCTGGTTCACATGAGAGCTGGTTGTTTAAAATTCCTCTCTTGCCATGTGACACACCTGCTCCTCCTTCACCTTCCACCATGACTGGAAGCATCCTGAGGCTCTCACCAGAAGCAGATGCTGGCACTATACTTCTTGTATAGCCTGCAGGACCGTGGGCCAAAATAAACCTCTTTTCTTTATAAATTAACTGGTCTGAAGTATTCCTTTATAGCAATGCAAAATGGACTAACATGCATTTCCTGGTTCAAATAACATCCACTTAATGTTGAGTGGGGTGCCCTCCTCTTCCTGTTGGCAGAATATGGATGTTCACAGGGACAAGGGCATCTACAGAGAGCAAACGACAGCACAGAGGAAGCCTGGGCCTCTGACCCTGTGAGACGGTCACATGAATCCCGGACTCTGCACTCAGGAGAGAGAAAAATAAGTTTGCGTCTTGCCTAAGCCACTGCTACCGTGTCTCGGTTTCAACCACTCACTTATCTTCTTACAGGGCCCTGTGCCAGTTATTAAGTGATTTTCTCTCAGCTCCAAACCTGTCACTGTCCAGTCTCCTTCATGCTGCCAGGACCGGGACTCCACAAATCTTCTTCTTGCTCTGGCGCCACCTGGGCATCAGGCAGTGCCAATGGAGGGAAGCAGAGGGCACTGCATGACTGGAGGCACAGCCGGCTTGCCGGGGGCAGCTGCTGGATCCCACTGACAGTTTTTTCTAACATTCACGGGGCTTGCCACGTGGTACCTGATCAGAGACCCTGGCATCTCCCACCCAGTGCTCCCTTCCTGAAAGATCAGAGTTGCAGGCTCTCGGGGCACCTTCTCTAAGCTCAGAGACCTGCCAGCAGTCCCACCACAGAGGTGTGAATTTCAGCTCAAAAGCCACAGGGATGGTCACTGCACCCCACAGTTGCTACCTCCATGATGCCTTAGAGTTAGTTCTCTTTTTAGCCCTTCAGTTACCTATTTAACAACTGCATACCTAGTGACCATCCTTTAAACTCCCTCTGTTCAAATCACTGGTATGG
|
CCACACCACATACTCCACCTTCTTTTATATCACTGCTAAACTGGGGTGTTTCCAGACACACCAAGCTGTGTCACCCCTCCAGGCCTCAGCATGTGAGGTTTGGGACATAGCTCAATGTTGCTCCCTCTGAACAAGATCCCCTGACACACCCCCAGGGCCAACCTCAGCGTCCACCTGGAGCTCCCAGCATGCCCTCAGCCACACTGTGACTTCCTTATGGCCACCTTTCATTCAGGGATGAACCTGCCTCCCCACCTCACAGCCCTTCCATGGCTCCCAGGACCCACAGCACGAAGCCCAGGCTCCTTAGCTGGGAGTGCAAGACCTTTTGAGATCCAGCCCCCACTCTCCTCTCTAGCTCACCTCTCACCACGTGCTATCCTCAAACTCTCCCTGCTTCCCAGGTCGCATCCGATTCTCCAGAAACAAGGAAGTAGATGAGAGGCCCCAAACATCCCATGCTGTTCCCATCTCGAGGCCTCTGCACGTGCCCTTCTTGTCTGAAATGCATGCATCTGTCCTTTCTCAACATGGCCAACCCCAACCCATCTTCTAAGACTCGGCTCAGCCATCACCTCCCCTGGGCTGCTTGACTTCTGAGCTCCCAGAGTACCCTGCGTCACCCAGCATCGTCCGATGGAAAGATCTGGCAAGCCACGTATGTAACCTTAAACTTTCTTGCAGCCACGTTAATAAAAAGGGGGAAAAAACCAGGTTGAACTTGGTTTGAAGAGTCTATTTTGCTCAATACATCTAAAACAGTATGATTCCAACATTCTGTTTTCATGCTAGGTCTTCAAAATCCAATGAACTCACTGCACATCTCAAGTTGGACACCAGATTTTCATCGGCAACATGATCTGTGTAGGTTTCATAAAATGTACAGCTATTCACATACCAAAGCTGTTCCAAAATGATGTGGAAAAAGTGCAAAGTCTTTACGCACTGAATCACATATTAGCTTTCAAATGTAAATTCAACTGAAAGGATCTAACATGAAAGATTCAGCTCCCCTGTCACACTCACCACGCTAAAGCGCTCAATAGGCTAGACCGGACGGCAAGGGCTCACACTGCCCCGCATTACGAATGGGTCTCTCGCCCTGTTCTTACCCCACAGCAAACATTCCAAGTCCCCCTTAGGACAAAGACGCTGTTCCCCAAGCTGGTTTTCCAGGACCTTCTCACCTCATTGCTCACCATCCCCAATCCTGCGCTCTACACGCCAGCACACCAGGCCCTCAGCAGCCCCCAGGCCTTCTCAATTTCTATGTTCCCCTTGCCTAGCATGCTCCCCTCCTCCTTTGCTTGTTGCCTCTTCTTTGTCCTAAAGGGCTCAGCTTGGTTAGCCTCTCTTCTGGAAGTCTCCCTTGAGCCATGGCCCCGCGCTTGTGTTCCCACATGAGCTGTGAGGCCTCCATCTCAGCGCATAACTACAGTCACAATGACCCACAATGACTGAGCCCCGACTGAGGGCTGGGCCCAGTTCTGAGCAGCGTACACGTGTTATCTTCTAACTCAGATATTTCTGTGCGGTAGGTGCTATCATTATCATCATCTCTACAGATAAAGCAACCTAAGCTCAGAGAAGGTCAGTCATTTGTCCCAGGTCATACAGCCAGTGGATGGTGGACCCGTGCTCTTAACCACAACACTAAGACCAGAGCTGTTGTAAGGATGACTACCTTGGATGGGAATCCAAGTGGGGAGAAAGGCAGGCGACTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGTTTGAACCCGGGAGGCGGAGGTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCGAGACTATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAGGCAGGCGACTGGGGGCCCGTGTGTTCTCACCTGTGCGACGCTTCGGAATCCCTGATGGGGAACTGTCCATGGGAGAGGTGTCAGAGAGGGAAGCATTGTTCTCAGGAGATGTGGCAGGACGGGGCGGGGAGACCTGTGAGCAGTCCAGGGCAGGCTTCTGGAAGAGGAAAGAACAGTTCTAGAGTGAGCGGGGGAAGGAGGGACTCCATTTTCCAAAAGTTGAGAGTAGAGGGGACTGAAACCTCTCTGTCTACCCTCCTTTCTGACCCTATGGTCTCAGCCCTAACTCAGGGGTGGCCTCTTCTCACCTGGGCCATCATCCCGCCCTCCAGTGCAGGATCATGGTCCCATCAAGGACCCCCATAGCTCTTCTGTTTTCTACAGTAACAGAATCTTCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACAGGCCTGCACTACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGCTCTACACAATGGGATGTCAGGGGAAATGATGTACACCTCTTCGTATAGTTTTATTTTTATTTATTTATTTATTGAGACAGGGTGTCATTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGCAACTGGGATAACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTTTTATAGAGATGGGGCTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCGATCCTCCCGCCTTGGCCTCCAGAGCACTGAGAATACAGGCGTGAGCCCCCGTGCCCAGCCTTCTCTCCATACAGTTTAGATGTTTGTTCCCTCCAGATCGCATGTTGCAATTTGGTCTCCAATGTTGGAGGTATGACCTGGCGGGAGGCATTCAGGTCACGTGGGCAGATCCCTCATGAATGGCTTGTACCCTCCTTGTGGTAGGAACCGAGTTCTTCCTCTCCTGGTTCACATGAGAGCTGGTTGTTTAAAATTCCTCTCTTGCCATGTGACACACCTGCTCCTCCTTCACCTTCCACCATGACTGGAAGCATCCTGAGGCTCTCACCAGAAGCAGATGCTGGCACTATACTTCTTGTATAGCCTGCAGGACCGTGGGCCAAAATAAACCTCTTTTCTTTATAAATTAACTGGTCTGAAGTATTCCTTTATAGCAATGCAAAATGGACTAACATGCATTTCCTGGTTCAAATAACATCCACTTAATGTTGAGTGGGGTGCCCTCCTCTTCCTGTTGGCAGAATATGGATGTTCACAGGGACAAGGGCATCTACAGAGAGCAAACGACAGCACAGAGGAAGCCTGGGCCTCTGACCCTGTGAGACGGTCACATGAATCCCGGACTCTGCACTCAGGAGAGAGAAAAATAAGTTTGCGTCTTGCCTAAGCCACTGCTACCGTGTCTCGGTTTCAACCACTCACTTATCTTCTTACAGGGCCCTGTGCCAGTTATTAAGTGATTTTCTCTCAGCTCCAAACCTGTCACTGTCCAGTCTCCTTCATGCTGCCAGGACCGGGACTCCACAAATCTTCTTCTTGCTCTGGCGCCACCTGGGCATCAGGCAGTGCCAATGGAGGGAAGCAGAGGGCACTGCATGACTGGAGGCACAGCCGGCTTGCCGGGGGCAGCTGCTGGATCCCACTGACAGTTTTTTCTAACATTCACGGGGCTTGCCACGTGGTACCTGATCAGAGACCCTGGCATCTCCCACCCAGTGCTCCCTTCCTGAAAGATCAGAGTTGCAGGCTCTCGGGGCACCTTCTCTAAGCTCAGAGACCTGCCAGCAGTCCCACCACAGAGGTGTGAATTTCAGCTCAAAAGCCACAGGGATGGTCACTGCACCCCACAGTTGCTACCTCCATGATGCCTTAGAGTTAGTTCTCTTTTTAGCCCTTCAGTTACCTATTTAACAACTGCATACCTAGTGACCATCCTTTAAACTCCCTCTGTTCAAATCACTGGTATGGNNNNNNNN
|
benign
| 307,218 |
Regarding the variant at chromosome 19 and position 48231760, affecting gene CARD8 (caspase recruitment domain family member 8): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
ATGAGCCTTTAATAAGTGCATTAGAGGGAGATGCTACTGAACAGGAGGAGGGTTACTCCAGAGATGTGAGTGTGCCTGTCAGTGTAATTCACATATTATCCATTTAAAATTTGGTGAGAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAACACTTCGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTACAAATACAAAAATTAGCCAGGCATAGTGGCGGGCACCTGCAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAAGTGGATGTTGCAGTGAGCCAAGATTGCGCCAGTTCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCTAAAAAAAGAAAAAAACAACCTGGTGAAAAAATCTCTGCATCTTCTCTGTCAGCTGGTCCCCCAAAATCACTAACTTTCTCCTTCTTGAGAGCCAGAAAAGGGAATTTCCTTTTTCAGTAGCACTGAATCACTACTGAAGATGGTTAGGGAAGCACATAGCTCCAGAGTCAGCACCTTGGATGAACCTCAGGAAGGGTGACTCCTGCTTCTGTCCATGAAAACCATGCCTTGCCCTTTCTGTTCCACGAGGAACTGGAGGGGCCAAGGGGATAACCTGGAAATATAATCGTCATCTTCTCTGGTCTCCTAAATCACTCAGCTTACCTTTGTTAGCAAGGCGTCGCTGGGGACAAGGTACAAGTGGAACTTAATATCTTCGGGGTGGGGGTGATAATAGATCAATGTGTTGGAAGTGATGGGGATGGAGAGGCGAGTCCCACTGGCGATCCGCAGCAGGATGCCCATCAGAGAGAAGCTGGGGCTTTCCAGGACAGCATAGAAAGGCTCCACCCGGGCTGGATGCTCCAGGACCATCCCTTCATTCTTAAAATGGGCAACGAGAAACCAGGAGACGTCCACCTCACCTGCTGCAGGAGAACCACAACAGCAGTGAGACGGCACGCACCCCAGCGGCCCCCACAGCCTCCGCTCACCCCACATTACCTTGGAGGGAGATGAAGTGGGGGAGGTGGATTTCGGCGACAGCCTCCTCTGGCTCTGCAGTGACATCAAACAAGGGGCCGCCCACCAGCCACTGTTCATGGTGCTGCAGGTCCAGGGCCAGGTGCTGACTCCAGGAACCAAACGCAATCGTCACTGTGACCTCATCCCTTACCAGGAAGCCGAGGCCTGTGGCTGACCACAGATACCAGCCAGCAGTGGGGAACCAAACGCTGAAAGGAGCCAGAGTGATGTCATGACGGGAGAACCCCAGGACTTGGATTTAAGCAGCGATGTGCAGAGGGAGGTGGGATTTGAAGTGAGGCAAGGTTCAGGACCCATCTGCGACTTTCACTACATTAGAAAACGCTGGGGAGTTCATTAACCTCTCTGGGCCCCAATTTCTCTGCATTCTATATATGTTGAAATTAAAATACCAACTTCACAGTGCATGAAATAAACATATTATTGATGAAATTTTAGCTATCATAAGGGATGGAACCGATACGCTTCCTTTTGTATTTATATTTTTATTTATTTATTTATTTTGAGACAAAGTCTCGCTCTGTCTCCTAGGCTGCAGTGCAGTGGCGAGATCTCATCTCACTGCAACCTCTGCCCCCTGGGTTCAAGAGATTCTCCTTTCTCAGCCTCCTGATTAGCTGGGACTACACGCGGGTGCCACCACGCCTGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCTCCTCCACCTCCCAAAGTGCCGAGATTACAGGCCTGAGCCACCACGCCTGGCCTACACACTTCCTTTATATCAGAGTGGTTTTCAAATCATCAGCATCTTCCATTCTTACCTGTATCTGTTTGTGCTCTTATCAATCAACTCAACATCCACATTTCCTTCAGGCCCCAGAAACTGACGATTTTTATAATCTTCTTCGATCTCAAAACAGACTTTAGAAGCATAAGAGGAAACTATTTGATTCTCTTCTGAGCAAATGTCTCCTGAAAAGAAAATACTAGACATGTAAGAGGTAAAGGGTTGGAAGAGGCATGGCCTGAAGGACTCCTGGAGGCTGAATTGCACAGGTGCTGTTGGGATACAGATATCGAATGAGAGCTGAGAGTGACCAGAATATGCAGTTTCGCTTCTTTGAATCCAGACAAAGAAAGGCACAAGAATGTTCCTTGTCATGACTAAACGTATACACCAAATTCCATAAGACTTTCTGGGAAGCCAGGCTGGACAGCTTTGGTGGGAGGCACCATTTGCTGAGGACTGGAACCAATGCACCTACATTTCTACTGGTCCGAAATAGCAGAAGACACTTTCTGCTGGTGAGGAAAGTCCAGGTCAGAAAAGTATCGAACTCCAAAGATGCAGAGGCGAAAGAGCGTGCATCCTTCCTAGGCCCTGCTGCTGTCCCCAGCCACCAGGACCACCCACTGACTCCCCTGAGCATTTCCATGCCCCAGCAGTGACAGGCTTACATGTCCCCATTTAAACTGCACAGTGCACTGTGGCAAAGGTAAGGGAAAGCACTCCTGATCTGCACAAAAGACTCTAAATTGTCTTCTTCACATAAAATCACAGAACATTTCCATCAATCCACACGCCCTTCACTCCTCTCCCTATTAGCCCATTACCTGAATCTTGTCCCTCTGAAGATTCCTGCTCTTCTGATACACTGGAGGTTGGGATCCCCATGTTACAAAAAGATGAAAAACATCAAGAATCAGTTGATGAAGATGAAGACGATGTTATTGAAAACTAGAGCTGCACTGTCCCGTAGAGTAGCCGCTACCCGGATATGCTATTTAAATTTGTATGAATTAAACTTAGGTAAACTTTAGTTTCTCAGTTGCACTATCCATATTTCAAGTGCTCAACAGCTACATATCACTCACGGCTATAACACTGTGTAGCAGAGAATGGAACACTCCCGTCATCACAGAAAGTTCTCTTAGACTGGGCGGATCTAGACTATCAAGAAATAGAAGACATTTTGAATGAAGATATTTTTATCCACATTTATAAATAATAGAGATAACACACTCCCTTGAGCCAAATGTGTCTTGACATCTCTCCTTCTTCTCTTTGTATTATGCCCACGTTCAATGTGGACACAGCCAGATTCTCTGGCTTAAATTGATTGCTCCGATTGGTATCATACGATGTCGGAATCAAAGACTGAAGCAGTAATTCACCAATGCGTAAAATGTATGCATTTATATTCCAAGGTAATTCCAAACTTGACCACACCTGGGAAGCTTTAAAAACCACCCAATACCAGGTCACAGCCCACATCAATTGAATCAGAAGTCTGGAGGTGGCACCAAAGCATCGGCGCTTTCAAAGCCTCACAGGTGATTCCAATATTAGCCAATATGGGTTCTATGACATACAGCGTGAGCCAATGGTTCGTCATGCCTCTGGAGAGAAACCTGCCCTAACACAGGTGATACCTTCTGGAGCAAGGCAACCAACTCCATCAAATTCTCTGCCTTTGATCCATTCCTTGAGATATCTGTTTATTTCGACGTGAAAGAGACCAGCAGAGAAACTGACACGTGGATTAGGTTTAAAAAGAACAGGTACCTAGAGAAGTGGGATGAAGAGAAAGGCTTTACAGCGCTTTTCTCGGAAGGATTCTGTGGGCAAGCCAAGCATGGAGAGACCCCTGGGCTGACATCCTAAGACTGGTTGCTGTCTGCGGCTACACATTTTGCTATGGATTCGGGTAGCTACAGGCAAAGCAGCAAGAGTAAACATGCCATTTTATATTCTCTTTCCTGGTGCATGTGCATGCTGGAGTCTGCCTGCTGAGGAGGGGTTTAGAAAGTGGGAGGAACCCAGCGCTGAACTGCAGACAGCGCATCCCAGATCATGAGAGCTGACGGTTCCATTTTCAGGGCTTTTGCAACCAAGTTGTTCAACACAACCATTAGTCTAAATTAAATGATACAAGCTAACATTTAAATAAATCATATTAAAAACAAAA
|
ATGAGCCTTTAATAAGTGCATTAGAGGGAGATGCTACTGAACAGGAGGAGGGTTACTCCAGAGATGTGAGTGTGCCTGTCAGTGTAATTCACATATTATCCATTTAAAATTTGGTGAGAGGCCAGGGGTGGTGGCTCACGCCTGTAATCCCAACACTTCGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTACAAATACAAAAATTAGCCAGGCATAGTGGCGGGCACCTGCAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGAAGTGGATGTTGCAGTGAGCCAAGATTGCGCCAGTTCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCTAAAAAAAGAAAAAAACAACCTGGTGAAAAAATCTCTGCATCTTCTCTGTCAGCTGGTCCCCCAAAATCACTAACTTTCTCCTTCTTGAGAGCCAGAAAAGGGAATTTCCTTTTTCAGTAGCACTGAATCACTACTGAAGATGGTTAGGGAAGCACATAGCTCCAGAGTCAGCACCTTGGATGAACCTCAGGAAGGGTGACTCCTGCTTCTGTCCATGAAAACCATGCCTTGCCCTTTCTGTTCCACGAGGAACTGGAGGGGCCAAGGGGATAACCTGGAAATATAATCGTCATCTTCTCTGGTCTCCTAAATCACTCAGCTTACCTTTGTTAGCAAGGCGTCGCTGGGGACAAGGTACAAGTGGAACTTAATATCTTCGGGGTGGGGGTGATAATAGATCAATGTGTTGGAAGTGATGGGGATGGAGAGGCGAGTCCCACTGGCGATCCGCAGCAGGATGCCCATCAGAGAGAAGCTGGGGCTTTCCAGGACAGCATAGAAAGGCTCCACCCGGGCTGGATGCTCCAGGACCATCCCTTCATTCTTAAAATGGGCAACGAGAAACCAGGAGACGTCCACCTCACCTGCTGCAGGAGAACCACAACAGCAGTGAGACGGCACGCACCCCAGCGGCCCCCACAGCCTCCGCTCACCCCACATTACCTTGGAGGGAGATGAAGTGGGGGAGGTGGATTTCGGCGACAGCCTCCTCTGGCTCTGCAGTGACATCAAACAAGGGGCCGCCCACCAGCCACTGTTCATGGTGCTGCAGGTCCAGGGCCAGGTGCTGACTCCAGGAACCAAACGCAATCGTCACTGTGACCTCATCCCTTACCAGGAAGCCGAGGCCTGTGGCTGACCACAGATACCAGCCAGCAGTGGGGAACCAAACGCTGAAAGGAGCCAGAGTGATGTCATGACGGGAGAACCCCAGGACTTGGATTTAAGCAGCGATGTGCAGAGGGAGGTGGGATTTGAAGTGAGGCAAGGTTCAGGACCCATCTGCGACTTTCACTACATTAGAAAACGCTGGGGAGTTCATTAACCTCTCTGGGCCCCAATTTCTCTGCATTCTATATATGTTGAAATTAAAATACCAACTTCACAGTGCATGAAATAAACATATTATTGATGAAATTTTAGCTATCATAAGGGATGGAACCGATACGCTTCCTTTTGTATTTATATTTTTATTTATTTATTTATTTTGAGACAAAGTCTCGCTCTGTCTCCTAGGCTGCAGTGCAGTGGCGAGATCTCATCTCACTGCAACCTCTGCCCCCTGGGTTCAAGAGATTCTCCTTTCTCAGCCTCCTGATTAGCTGGGACTACACGCGGGTGCCACCACGCCTGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCTCCTCCACCTCCCAAAGTGCCGAGATTACAGGCCTGAGCCACCACGCCTGGCCTACACACTTCCTTTATATCAGAGTGGTTTTCAAATCATCAGCATCTTCCATTCTTACCTGTATCTGTTTGTGCTCTTATCAATCAACTCAACATCCACATTTCCTTCAGGCCCCAGAAACTGACGATTTTTATAATCTTCTTCGATCTCAAAACAGACTTTTTAGAAGCATAAGAGGAAACTATTTGATTCTCTTCTGAGCAAATGTCTCCTGAAAAGAAAATACTAGACATGTAAGAGGTAAAGGGTTGGAAGAGGCATGGCCTGAAGGACTCCTGGAGGCTGAATTGCACAGGTGCTGTTGGGATACAGATATCGAATGAGAGCTGAGAGTGACCAGAATATGCAGTTTCGCTTCTTTGAATCCAGACAAAGAAAGGCACAAGAATGTTCCTTGTCATGACTAAACGTATACACCAAATTCCATAAGACTTTCTGGGAAGCCAGGCTGGACAGCTTTGGTGGGAGGCACCATTTGCTGAGGACTGGAACCAATGCACCTACATTTCTACTGGTCCGAAATAGCAGAAGACACTTTCTGCTGGTGAGGAAAGTCCAGGTCAGAAAAGTATCGAACTCCAAAGATGCAGAGGCGAAAGAGCGTGCATCCTTCCTAGGCCCTGCTGCTGTCCCCAGCCACCAGGACCACCCACTGACTCCCCTGAGCATTTCCATGCCCCAGCAGTGACAGGCTTACATGTCCCCATTTAAACTGCACAGTGCACTGTGGCAAAGGTAAGGGAAAGCACTCCTGATCTGCACAAAAGACTCTAAATTGTCTTCTTCACATAAAATCACAGAACATTTCCATCAATCCACACGCCCTTCACTCCTCTCCCTATTAGCCCATTACCTGAATCTTGTCCCTCTGAAGATTCCTGCTCTTCTGATACACTGGAGGTTGGGATCCCCATGTTACAAAAAGATGAAAAACATCAAGAATCAGTTGATGAAGATGAAGACGATGTTATTGAAAACTAGAGCTGCACTGTCCCGTAGAGTAGCCGCTACCCGGATATGCTATTTAAATTTGTATGAATTAAACTTAGGTAAACTTTAGTTTCTCAGTTGCACTATCCATATTTCAAGTGCTCAACAGCTACATATCACTCACGGCTATAACACTGTGTAGCAGAGAATGGAACACTCCCGTCATCACAGAAAGTTCTCTTAGACTGGGCGGATCTAGACTATCAAGAAATAGAAGACATTTTGAATGAAGATATTTTTATCCACATTTATAAATAATAGAGATAACACACTCCCTTGAGCCAAATGTGTCTTGACATCTCTCCTTCTTCTCTTTGTATTATGCCCACGTTCAATGTGGACACAGCCAGATTCTCTGGCTTAAATTGATTGCTCCGATTGGTATCATACGATGTCGGAATCAAAGACTGAAGCAGTAATTCACCAATGCGTAAAATGTATGCATTTATATTCCAAGGTAATTCCAAACTTGACCACACCTGGGAAGCTTTAAAAACCACCCAATACCAGGTCACAGCCCACATCAATTGAATCAGAAGTCTGGAGGTGGCACCAAAGCATCGGCGCTTTCAAAGCCTCACAGGTGATTCCAATATTAGCCAATATGGGTTCTATGACATACAGCGTGAGCCAATGGTTCGTCATGCCTCTGGAGAGAAACCTGCCCTAACACAGGTGATACCTTCTGGAGCAAGGCAACCAACTCCATCAAATTCTCTGCCTTTGATCCATTCCTTGAGATATCTGTTTATTTCGACGTGAAAGAGACCAGCAGAGAAACTGACACGTGGATTAGGTTTAAAAAGAACAGGTACCTAGAGAAGTGGGATGAAGAGAAAGGCTTTACAGCGCTTTTCTCGGAAGGATTCTGTGGGCAAGCCAAGCATGGAGAGACCCCTGGGCTGACATCCTAAGACTGGTTGCTGTCTGCGGCTACACATTTTGCTATGGATTCGGGTAGCTACAGGCAAAGCAGCAAGAGTAAACATGCCATTTTATATTCTCTTTCCTGGTGCATGTGCATGCTGGAGTCTGCCTGCTGAGGAGGGGTTTAGAAAGTGGGAGGAACCCAGCGCTGAACTGCAGACAGCGCATCCCAGATCATGAGAGCTGACGGTTCCATTTTCAGGGCTTTTGCAACCAAGTTGTTCAACACAACCATTAGTCTAAATTAAATGATACAAGCTAACATTTAAATAAATCATATTAAAAACAA
|
benign
| 307,239 |
Does the variant on chromosome 19 at location 48297459 affecting gene ODAD1 (outer dynein arm docking complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
CGTGAGCCACCACGCCCAGCCTGAATTTTTAGAAGTTTTTATATAGCTTTGATACCAATGGATTAAATTTTGACAGGGCATTTGGCATGACTCAACTACAGGAAAGAGTTATCAAGGTGTTCTAAGCCCTCTCACTCCTACACCCACCCCCGCTGCAGGAAAGGGCCAAAGTCAGCTTTTTCTCTGTGACCCTGTGGCTGGAGTTAGGGCTGTCCATAAATAATCCTTCCTTTCTCTCCTTCCAGGCACATGAAAAGACTGCGCTTCCCGGCGACCCTTTGAAGTTCGGCGTAACCTGCTGACCCGCTCTGGCTGAGTGTGAGCTAAGAGGACAGGTGTCATATCAGGTCCAAGCCTCGAGAGTCACTGCCTGCTGTGCCATCCTCTCTTCTTCCCGTGCCAAAGGACTGGCAGCACTCCAGTGATGGCTGTGCCATGGGCCCGGGGTACACGAGTGATATGGAGCGGAGCGCTCAGCTGGCCCACAAAGGAGAGAAAACTCTGCTGCCTGAGGACCACAGAGAATCTGCAGCTGTGACTGCAGCACAGCCCAGCCTGCCCTGACCAACATAGCTCCAAGAGAGCCAGACACGTGGATCTCAGAGAAATGGATGAATAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCGACTAAAAATACAAAAATTAGCCGGGCGTGGTAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGAACGTGACACTGTACTCCAGCCTGGGCAACAAGAGGGAAACTTCATCTCAATAAATAAATAAATAAATAAATAAATAAATAAGAACGCTGAATGAGTGAGTGAATGAATGAATGAATGAATGAATGGCAGGGAATCGGGACAGGGTCACAGATTACCCCCAGGCTGGAGGTAGAGGAAGCAGCCATGGCTGAAGCCAGCTCTCCACACATATACTTTATTTCCACAGTCCCATTTTCCCATGCTGAACCTGGCGTCTTCGCCCTGACTTTTCCCACACCTGTCAGCACTGGGGGGCTCTTGGGGAGTAAGGAGCTACAGAGACAGGGACACAGGATGCGTGGAGAGCCTGGGAGATGGAGATGAGGAGAGAGAGCCGGAAACAGGAGGTGGGGGATCCACAGGGGGCCAGGGCTCAGCAGACAGGGAAGGGGCAGATATGGAGACAAGACGGACAGACACTGACCAGGAAGCCCAGAGAACAGGAGATCAGGAGTCAGAGGGAAAAGCAGTGTCAGGAGCAGAGAGAAAGGAACCGGGAGACACAGGTGAGGCGGTGATGAAGGGCAGATGAAAACAGTTGAAGGGGCAAAAAGACAGAGGCCTGCCACTGGGAGAAAAAGACAGAGACCCACAAGGCAAACAGGGGAAGTAGAGACACAAAAAAAGACCCCACAGAGAGCCAGGGCAGGGTGGGGGCTGCGTGCCCCTCGTGTTAGCCCCGGGAGTCTTTGCTGGTGGAGGAGCCCGGGCCAGTGCTGGAGGCAGGGCCGGTGCTGGAGACGTGGTCTCTGCTGGACCCGAGGCCTCCGCTCGAATCAGACGCTGTGCCTCCGCTCTCCACACCACCCTCTGTGTTTTCTCCGCCCCTGCTGGACCCCACGTATCCAGTGGAGCCCAGGTAGCTGCTGGCGCTGACGGGTCTGAAGGTCACGTGGCCCCCACTCGAGGCACTGGTGGAGCCGAAGGTCACGTGGCCAGTGTTGGGGTCACCGTGCGTGATGTGGCTGGGCAAATGCCCAGTGCTGGAGCTGAGGCCGCCAAAAGTGACGTGGCCAAGAGAGCCACGGTCTCTGCTAGTCTTGTGGCTCAAAATGGACCCGGGGATGGCATGGGGGTGCCTGGTGGGCACCAGGACGGTACTGGAGCCGGCCCTCTGGGTGCTGGCCAGGTCCACGCTCAGGGTGCCGTCCAGCTTCGCGGCGGCGGCGGCCAGGTCCTTCTGGCGCTGCGCCTCCGCCTGCTCCTGGAGCTCCACCTGCAGGGAAGGTGAACTGGGCCCCGACACACACTGAGGCCTGGCCCCACCCCCGCAGGCCCCACTCTCACCAGCTTCTCCACTTGGCTCAGCAGCTCCTCCCTGCTCATGGGGTAGTCATCGCTGGCCTCAAAACCCGGGGGGTCTTCTCTGGGGAGGGGAAGGAAAATTGGAAAAGACTAGACCTCAGCCCTCAAAAAGGCCAGCGGCCCTTCCTGCTAAACCCCGGGAGCCTCAGCCATTCTCCCACCAGCCCCGAGTGCCCTTCCCTTCTGGGGCACCCGGGGCCCCATCCTCCCACACAGGTGCCAAGCCCCTACTCCTTCTGGCTGCCTCGAAGCACATACTTCATATTCTAACCCCCCAGGGCCACATCCGCCAGCCAGTCCCCAAAAGCCCCCCAAAACTCTCTATCCTGTGTGTTCCCTCTGCCCCCATGGAAGCCCCGTCCCCTCTGCGTCCCTCCTGCCCTGCGCCTCACAGAGTGTCAGGGGGCTGAAGTGGGGCCATCTTCTTCGGAAGGTCCTCCAGGCTCTGGCCCAGCACTAGGAGGGCAGCGTCGGCCAGGGAGGTGAAGCTCTGGAGAGTGTGGGAGCCTGCGGTCAGCTGGGCCACCCCCGAGACCGGCCTCCTGTCCCGGCTCCCTGCCGTCTCCCACCTGGGCATGTAGGAAGGCCTGCACTGTCAGGAGCTCCACCAGCCGCTTCTCAATGAGGCTCAGGAAGAGGCCCATGTCCCGGTCTCCCATGCTGGTCTTGACCCCAAGGAGGTCATCGATCATGCTGCTGTCGCAATGGGCCTTGGTGAAGAGGAGCTGGATATCTGCGTCATGGAGGGCCGGTTGTCAGGGATCTGGCACCGCCAGCTGGGTGCCAGCCCTCTCCCCACTCAGGTCCTCACTGCCCCATTCTACAGAGACTGCGGTCAAGGCTCAGAGACCAAAAGGGAGTCACCCGAGCTCAGCCAGCCAGGCAGGGGGACGGCACTGCTGTGCATCCCTCTCTCCCTGACTTGTCCTTCAAAGTCAGCCTCAAGTGTCACTGCCTCCAGGAAGCCTTCCCAGTGACCCCAGCAGAGCCAGCCTCATGAGTGTGAGATCCAGGCAGTGGTGAGGGGCCTGCACTTGGCTTGACACGCTGCTGCTCTTCCTATCTTGAAAATCTCAGCAATTTTTTAACAAGGGGCCCCTCATTCTGCACTGGGCCCCACAAATTATGGTCTTGCACCCCAGACTGAGTTAGGGCCTTCTCTCGCCCCCAGTGCCTGGGCGTCCTCTGTCCTAGCCCCTGAGTGATGAGTGCCCAGTGCGCAGGTCAGTCCCCTCCAGGGCCTCTCCCCACTGTGCCCACATCACCTAGCACAGGGCTCGGATCAGCCATCACGACAGCAGGAAGGAGGACCTGCCCATATCTGAGCTCCTACGGTATGCCCCGAGGAGGCTCTCCAGCTCGCTCCCCACCACCCCCCACCTTTCTCTCCATCCGTCATCCCTTCTAATTCTCATGACAACCCTGCAAAGTAGGCACTGCCATCCCCATTCCCAGAGCGGAAGGAGGAAGCCACACACCAAGGTTCACAATTGGTGGAGCTGAGATTCAAACCCAGGACAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCCGGGCATGGTAGTGCAGGCCTGTAATCCCAGTTACTGGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGACGTTGCAGTAAGCCCAGATCACACCACTGCTCTCCAGCCTGGCTGACAGCGTGAGATTCCATCTCAAAAAAACAAATAAAAGCTAACAATAAATGTTTTAAAAAAGAGAAAAGAAACAGGACAGCCTGACTCCTGAGTGCTCTGCATGGCTACTTCCTGAA
|
CGTGAGCCACCACGCCCAGCCTGAATTTTTAGAAGTTTTTATATAGCTTTGATACCAATGGATTAAATTTTGACAGGGCATTTGGCATGACTCAACTACAGGAAAGAGTTATCAAGGTGTTCTAAGCCCTCTCACTCCTACACCCACCCCCGCTGCAGGAAAGGGCCAAAGTCAGCTTTTTCTCTGTGACCCTGTGGCTGGAGTTAGGGCTGTCCATAAATAATCCTTCCTTTCTCTCCTTCCAGGCACATGAAAAGACTGCGCTTCCCGGCGACCCTTTGAAGTTCGGCGTAACCTGCTGACCCGCTCTGGCTGAGTGTGAGCTAAGAGGACAGGTGTCATATCAGGTCCAAGCCTCGAGAGTCACTGCCTGCTGTGCCATCCTCTCTTCTTCCCGTGCCAAAGGACTGGCAGCACTCCAGTGATGGCTGTGCCATGGGCCCGGGGTACACGAGTGATATGGAGCGGAGCGCTCAGCTGGCCCACAAAGGAGAGAAAACTCTGCTGCCTGAGGACCACAGAGAATCTGCAGCTGTGACTGCAGCACAGCCCAGCCTGCCCTGACCAACATAGCTCCAAGAGAGCCAGACACGTGGATCTCAGAGAAATGGATGAATAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCGACTAAAAATACAAAAATTAGCCGGGCGTGGTAGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGAACGTGACACTGTACTCCAGCCTGGGCAACAAGAGGGAAACTTCATCTCAATAAATAAATAAATAAATAAATAAATAAATAAGAACGCTGAATGAGTGAGTGAATGAATGAATGAATGAATGAATGGCAGGGAATCGGGACAGGGTCACAGATTACCCCCAGGCTGGAGGTAGAGGAAGCAGCCATGGCTGAAGCCAGCTCTCCACACATATACTTTATTTCCACAGTCCCATTTTCCCATGCTGAACCTGGCGTCTTCGCCCTGACTTTTCCCACACCTGTCAGCACTGGGGGGCTCTTGGGGAGTAAGGAGCTACAGAGACAGGGACACAGGATGCGTGGAGAGCCTGGGAGATGGAGATGAGGAGAGAGAGCCGGAAACAGGAGGTGGGGGATCCACAGGGGGCCAGGGCTCAGCAGACAGGGAAGGGGCAGATATGGAGACAAGACGGACAGACACTGACCAGGAAGCCCAGAGAACAGGAGATCAGGAGTCAGAGGGAAAAGCAGTGTCAGGAGCAGAGAGAAAGGAACCGGGAGACACAGGTGAGGCGGTGATGAAGGGCAGATGAAAACAGTTGAAGGGGCAAAAAGACAGAGGCCTGCCACTGGGAGAAAAAGACAGAGACCCACAAGGCAAACAGGGGAAGTAGAGACACAAAAAAAGACCCCACAGAGAGCCAGGGCAGGGTGGGGGCTGCGTGCCCCTCGTGTTAGCCCCGGGAGTCTTTGCTGGTGGAGGAGCCCGGGCCAGTGCTGGAGGCAGGGCCGGTGCTGGAGACGTGGTCTCTGCTGGACCCGAGGCCTCCGCTCGAATCAGACGCTGTGCCTCCGCTCTCCACACCACCCTCTGTGTTTTCTCCGCCCCTGCTGGACCCCACGTATCCAGTGGAGCCCAGGTAGCTGCTGGCGCTGACGGGTCTGAAGGTCACGTGGCCCCCACTCGAGGCACTGGTGGAGCCGAAGGTCACGTGGCCAGTGTTGGGGTCACCGTGCGTGATGTGGCTGGGCAAATGCCCAGTGCTGGAGCTGAGGCCGCCAAAAGTGACGTGGCCAAGAGAGCCACGGTCTCTGCTAGTCTTGTGGCTCAAAATGGACCCGGGGATGGCATGGGGGTGCCTGGTGGGCACCAGGACGGTACTGGAGCCGGCCCTCTGGGTGCTGGCCAGGTCCACGCTCAGGGTGCCGTCCAGCTTCGCGGCGGCGGCGGCGGCCAGGTCCTTCTGGCGCTGCGCCTCCGCCTGCTCCTGGAGCTCCACCTGCAGGGAAGGTGAACTGGGCCCCGACACACACTGAGGCCTGGCCCCACCCCCGCAGGCCCCACTCTCACCAGCTTCTCCACTTGGCTCAGCAGCTCCTCCCTGCTCATGGGGTAGTCATCGCTGGCCTCAAAACCCGGGGGGTCTTCTCTGGGGAGGGGAAGGAAAATTGGAAAAGACTAGACCTCAGCCCTCAAAAAGGCCAGCGGCCCTTCCTGCTAAACCCCGGGAGCCTCAGCCATTCTCCCACCAGCCCCGAGTGCCCTTCCCTTCTGGGGCACCCGGGGCCCCATCCTCCCACACAGGTGCCAAGCCCCTACTCCTTCTGGCTGCCTCGAAGCACATACTTCATATTCTAACCCCCCAGGGCCACATCCGCCAGCCAGTCCCCAAAAGCCCCCCAAAACTCTCTATCCTGTGTGTTCCCTCTGCCCCCATGGAAGCCCCGTCCCCTCTGCGTCCCTCCTGCCCTGCGCCTCACAGAGTGTCAGGGGGCTGAAGTGGGGCCATCTTCTTCGGAAGGTCCTCCAGGCTCTGGCCCAGCACTAGGAGGGCAGCGTCGGCCAGGGAGGTGAAGCTCTGGAGAGTGTGGGAGCCTGCGGTCAGCTGGGCCACCCCCGAGACCGGCCTCCTGTCCCGGCTCCCTGCCGTCTCCCACCTGGGCATGTAGGAAGGCCTGCACTGTCAGGAGCTCCACCAGCCGCTTCTCAATGAGGCTCAGGAAGAGGCCCATGTCCCGGTCTCCCATGCTGGTCTTGACCCCAAGGAGGTCATCGATCATGCTGCTGTCGCAATGGGCCTTGGTGAAGAGGAGCTGGATATCTGCGTCATGGAGGGCCGGTTGTCAGGGATCTGGCACCGCCAGCTGGGTGCCAGCCCTCTCCCCACTCAGGTCCTCACTGCCCCATTCTACAGAGACTGCGGTCAAGGCTCAGAGACCAAAAGGGAGTCACCCGAGCTCAGCCAGCCAGGCAGGGGGACGGCACTGCTGTGCATCCCTCTCTCCCTGACTTGTCCTTCAAAGTCAGCCTCAAGTGTCACTGCCTCCAGGAAGCCTTCCCAGTGACCCCAGCAGAGCCAGCCTCATGAGTGTGAGATCCAGGCAGTGGTGAGGGGCCTGCACTTGGCTTGACACGCTGCTGCTCTTCCTATCTTGAAAATCTCAGCAATTTTTTAACAAGGGGCCCCTCATTCTGCACTGGGCCCCACAAATTATGGTCTTGCACCCCAGACTGAGTTAGGGCCTTCTCTCGCCCCCAGTGCCTGGGCGTCCTCTGTCCTAGCCCCTGAGTGATGAGTGCCCAGTGCGCAGGTCAGTCCCCTCCAGGGCCTCTCCCCACTGTGCCCACATCACCTAGCACAGGGCTCGGATCAGCCATCACGACAGCAGGAAGGAGGACCTGCCCATATCTGAGCTCCTACGGTATGCCCCGAGGAGGCTCTCCAGCTCGCTCCCCACCACCCCCCACCTTTCTCTCCATCCGTCATCCCTTCTAATTCTCATGACAACCCTGCAAAGTAGGCACTGCCATCCCCATTCCCAGAGCGGAAGGAGGAAGCCACACACCAAGGTTCACAATTGGTGGAGCTGAGATTCAAACCCAGGACAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAACTAGCCGGGCATGGTAGTGCAGGCCTGTAATCCCAGTTACTGGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGACGTTGCAGTAAGCCCAGATCACACCACTGCTCTCCAGCCTGGCTGACAGCGTGAGATTCCATCTCAAAAAAACAAATAAAAGCTAACAATAAATGTTTTAAAAAAGAGAAAAGAAACAGGACAGCCTGACTCCTGAGTGCTCTGCATGGCTACTTCCT
|
benign
| 307,266 |
Classify the chromosome 19 variant at position 48312025 affecting gene ODAD1 (outer dynein arm docking complex subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Primary_ciliary_dyskinesia']
|
GTAATCCCAGAACTTTGGGAGGCTGAGGCGGGTGGAACACCTTAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCACGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTTAGTATCAAAAAAGAAAAAAAAGACCAGATAAACCCATGTCAGGGGACATCGCACAACACAAACGGCCTGGATGCTTCCAAAATGTCAACGTCATGGAGAAAAAAAAGCCCAAGGGACTGACCCAGATGAACAGAGCCAGAACAACCAAATGCAACGTGAGATTCTGGACCGGAGCCTAGAGTAGGAAAATCAAGTTCACTGTAAAGGACATCACTGGGACAATCAGTGACCTTGACATATGGACGGTTTAGAATTCTAACAATGTTAACCTCCCTGACTTGGATAACAGCACTGTGTTTATGTAAGGAAATGGCGTTGTTCTTAGGAAATGCTCTCTCAAGTACTTAGGAGCATAATGTCTACAACATATTGTCAAACAGTTCAGCATTCAGGATAATAAATTATTCTCAGCAAAACAATAATTACACACACCAATAGTAAGAGTGGGGGAGAAAGAGAAAATAAATGTGGCAAATTATCAAACTGGGTGAAAGATATATAGGAGTTCTTTGTATAATTCTTGCACCTTTTTCTGTAATTTGAAATTATTTCCAAATGAAAGTCAAGACCGGACGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATTGCCTGAGCTCAGGAATTCAAGACTAGCCTGGGCAACATGGTGAAACCCTGTCCCTACTTAAAAAAAAAAAAATCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGATACAGGAGAATTGCTTGAATCTGGGAGGCACAGGCTGTAGTGAGCCAAGATCACTTCACTGTGCTCCAGCCTGGACGACAGAGTGAGACTCATCTCAAAACAAAGAAAGAAAGAAAGTCAAAAGAGAGGGGACAGGGCTGGTTCTTCAAAGATCCCCGTGGAATGTATAATAAATGGTCTTGCTTGCTCATAGATTGCCCTGGGTGATACTATTCAGAATGACATTCTGCTTTCTACAACTATAAATGAGGCCACTTTTTTGTTGGAAATGTCCTCCAACATTTCCCAGGCCTCCATGCCTTTTGGACTAAAGCAAGCCTACCGCTCTAGTCAATCCCATACTTGAGGCCTGAGTGCTAGAGCAGGAAGGGCAAACAGCTGTGGGGAGGACCTGCGCAGGGGTCCCTGTCTCCTCCCCTGGATTTCAGGGCCACTGACCTTCTTCAGCTTGCGGTCCACGTTCAGATAGCGGTTCCTGTCGATCCGCAGCAGATCCAGCTCCTCCCGCAGGGCCGCATTCCGTACCAGCTGGTTGTCAAAGTGACAGGTGACCTGGGAGTAGAAAGGTGGATGGAAGAGTGGGTCTGAAGCCAAGTCTGCCTGCCTCCTCCAAGCTCAGCCAAGGAGGAGACACTTATCAGAGGTTGGGCCGGCCTGTTTCCTGAGAAACAGAGGTTCTTTGGGGTTCCCGAAATCAATGTCCACTCCCCTCTAAGGACCCATCATTCTCCTTTCCTTGGGAACCTCCATCCCTCCAGAATCCTGTGTCCTGACACATATGTGCACACACTGCCCAGCATTTCCAGAATCCAATGACCATGCCCAGTTCTTCCCATAACCGCACAATTCAGGTCGAGGGACCAGGAGTTTGACCCTCACCCTGTCCAACTGGTTTTCTAGGATCCTGATCCTTCGCCTGATCTTGACCTTCTGATCCAGGATGAATCCCGGGGACCTGACATTCTTACTGTGGGTAAAGATCCGCGTCTCCCACTCCTGGATCTACAAGAAAGAGGATGGTACCTGTTTTTGGTTGCCTGAATGTGGGAGAGATTGAATGGCCCAGGGAAAATGAGTCACTAAGCATGGCAAACATCTGCTGTCCCTGTCACCCCAGAATAACATCTACCCTTCTGCTGACACTATCCAGCCCTCCATGTGGTTCTGGTGGGCCTTCCAACCACAGTGTATCACCCTATCAGCCACATGACCCAGGTCTGGACACTCACAGGGATTGGCCTAGAGATGGGAATGTGACCCCATGGAGCTAGCCTGACTCCTTTCCGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGCTCGAGCAATTCTAGTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCACTGCACCCGGCCCTGACTCCTTTCCTGATAGTCTGGGGGAAGCACATGAGATGGAAGGATGGGATTCCAGGACTTCTCCTGTCATGGCCCCACCACAGGGAGGGTCCTGGGAGAATGAGGCCAGTGGACAGAAGTGGAGATGAGAGTCGGAGAGACGGTGAGAATGAACTTGATGACATTAGTAGCCCTGGGTCTGCTTATGCCTAAGACCAGCTTCCAATCTGTCCTCATTTCTGTATTCATCTGTACTTATTGGGGTGTGCTCTGTCTCTCCCAGCAAACTGGGGGTTCCATGAGGACACAGAGTCTTGTGTTTTCTCCCTGTCCGAGACAAAGAAGGTATTCAACATAACATGCAGACTAAATAGATAAATGAATTGCTCAACACTTCAATTTGTGCTCTGTTATGGGTTGAATCATGTCCCATAAAAACTCATATGTTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCAGAGGTGGGTGAATCAGCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCGAAACCCCACCTCTACTAAAATACAAAAATTAGCAAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGGAACAGAACAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAACCAAAAAAAAACCTCACATGTTGAAGTCTTAACCCCCAGTACTTTAGAATGTGACCTTATTTGGAGACAGAGTCTTCATAGAAGTAATTAAAATGAGGTAATTAAGGTGGGCCCTAATCCACTACGACGAGGTGTTCTTAGAAAAATGGGAAATTGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAATACTTTGGAAGGCTGAGGCAGGATGATCTCTCGAAGCCAGGAGTTCAAGACCAGCCTGGGCCACAAAGCAAGACCCCATCTCTACAAGATACAAAATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTGGCAGATCCCTTGAGACAAGGAGCTCGAAGCTGCAGTGAGCTGTGATTGAGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAACAAAAAAGGAAATTTGGACATAGATACGCACACAGGGAGAATGCCACGTAAGGATAAAGACAGAGGTCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTCGGAGGCTGAGATGGGTGGATAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCA
|
GTAATCCCAGAACTTTGGGAGGCTGAGGCGGGTGGAACACCTTAGGTCAGGAGTTTGAGATCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCACGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTTAGTATCAAAAAAGAAAAAAAAGACCAGATAAACCCATGTCAGGGGACATCGCACAACACAAACGGCCTGGATGCTTCCAAAATGTCAACGTCATGGAGAAAAAAAAGCCCAAGGGACTGACCCAGATGAACAGAGCCAGAACAACCAAATGCAACGTGAGATTCTGGACCGGAGCCTAGAGTAGGAAAATCAAGTTCACTGTAAAGGACATCACTGGGACAATCAGTGACCTTGACATATGGACGGTTTAGAATTCTAACAATGTTAACCTCCCTGACTTGGATAACAGCACTGTGTTTATGTAAGGAAATGGCGTTGTTCTTAGGAAATGCTCTCTCAAGTACTTAGGAGCATAATGTCTACAACATATTGTCAAACAGTTCAGCATTCAGGATAATAAATTATTCTCAGCAAAACAATAATTACACACACCAATAGTAAGAGTGGGGGAGAAAGAGAAAATAAATGTGGCAAATTATCAAACTGGGTGAAAGATATATAGGAGTTCTTTGTATAATTCTTGCACCTTTTTCTGTAATTTGAAATTATTTCCAAATGAAAGTCAAGACCGGACGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATTGCCTGAGCTCAGGAATTCAAGACTAGCCTGGGCAACATGGTGAAACCCTGTCCCTACTTAAAAAAAAAAAAATCGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGATACAGGAGAATTGCTTGAATCTGGGAGGCACAGGCTGTAGTGAGCCAAGATCACTTCACTGTGCTCCAGCCTGGACGACAGAGTGAGACTCATCTCAAAACAAAGAAAGAAAGAAAGTCAAAAGAGAGGGGACAGGGCTGGTTCTTCAAAGATCCCCGTGGAATGTATAATAAATGGTCTTGCTTGCTCATAGATTGCCCTGGGTGATACTATTCAGAATGACATTCTGCTTTCTACAACTATAAATGAGGCCACTTTTTTGTTGGAAATGTCCTCCAACATTTCCCAGGCCTCCATGCCTTTTGGACTAAAGCAAGCCTACCGCTCTAGTCAATCCCATACTTGAGGCCTGAGTGCTAGAGCAGGAAGGGCAAACAGCTGTGGGGAGGACCTGCGCAGGGGTCCCTGTCTCCTCCCCTGGATTTCAGGGCCACTGACCTTCTTCAGCTTGCGGTCCACGTTCAGATAGCGGTTCCTGTCGATCCGCAGCAGATCCAGCTCCTCCCGCAGGGCCGCATTCCGTACCAGCTGGTTGTCAAAGTGACAGGTGACCTGGGAGTAGAAAGGTGGATGGAAGAGTGGGTCTGAAGCCAAGTCTGCCTGCCTCCTCCAAGCTCAGCCAAGGAGGAGACACTTATCAGAGGTTGGGCCGGCCTGTTTCCTGAGAAACAGAGGTTCTTTGGGGTTCCCGAAATCAATGTCCACTCCCCTCTAAGGACCCATCATTCTCCTTTCCTTGGGAACCTCCATCCCTCCAGAATCCTGTGTCCTGACACATATGTGCACACACTGCCCAGCATTTCCAGAATCCAATGACCATGCCCAGTTCTTCCCATAACCGCACAATTCAGGTCGAGGGACCAGGAGTTTGACCCTCACCCTGTCCAACTGGTTTTCTAGGATCCTGATCCTCGCCTGATCTTGACCTTCTGATCCAGGATGAATCCCGGGGACCTGACATTCTTACTGTGGGTAAAGATCCGCGTCTCCCACTCCTGGATCTACAAGAAAGAGGATGGTACCTGTTTTTGGTTGCCTGAATGTGGGAGAGATTGAATGGCCCAGGGAAAATGAGTCACTAAGCATGGCAAACATCTGCTGTCCCTGTCACCCCAGAATAACATCTACCCTTCTGCTGACACTATCCAGCCCTCCATGTGGTTCTGGTGGGCCTTCCAACCACAGTGTATCACCCTATCAGCCACATGACCCAGGTCTGGACACTCACAGGGATTGGCCTAGAGATGGGAATGTGACCCCATGGAGCTAGCCTGACTCCTTTCCGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGGAGTGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGCTCGAGCAATTCTAGTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCACGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAAGAGCCACTGCACCCGGCCCTGACTCCTTTCCTGATAGTCTGGGGGAAGCACATGAGATGGAAGGATGGGATTCCAGGACTTCTCCTGTCATGGCCCCACCACAGGGAGGGTCCTGGGAGAATGAGGCCAGTGGACAGAAGTGGAGATGAGAGTCGGAGAGACGGTGAGAATGAACTTGATGACATTAGTAGCCCTGGGTCTGCTTATGCCTAAGACCAGCTTCCAATCTGTCCTCATTTCTGTATTCATCTGTACTTATTGGGGTGTGCTCTGTCTCTCCCAGCAAACTGGGGGTTCCATGAGGACACAGAGTCTTGTGTTTTCTCCCTGTCCGAGACAAAGAAGGTATTCAACATAACATGCAGACTAAATAGATAAATGAATTGCTCAACACTTCAATTTGTGCTCTGTTATGGGTTGAATCATGTCCCATAAAAACTCATATGTTGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCAGAGGTGGGTGAATCAGCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCGAAACCCCACCTCTACTAAAATACAAAAATTAGCAAGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGGAACAGAACAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAACCAAAAAAAAACCTCACATGTTGAAGTCTTAACCCCCAGTACTTTAGAATGTGACCTTATTTGGAGACAGAGTCTTCATAGAAGTAATTAAAATGAGGTAATTAAGGTGGGCCCTAATCCACTACGACGAGGTGTTCTTAGAAAAATGGGAAATTGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAATACTTTGGAAGGCTGAGGCAGGATGATCTCTCGAAGCCAGGAGTTCAAGACCAGCCTGGGCCACAAAGCAAGACCCCATCTCTACAAGATACAAAATAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAAGCTGAGGTGGCAGATCCCTTGAGACAAGGAGCTCGAAGCTGCAGTGAGCTGTGATTGAGCCACTGTACTCCAGCCTGGGTGACAGAGGGAGATCCTGTCTCAAAACAAAACAAAACAAAAAAGGAAATTTGGACATAGATACGCACACAGGGAGAATGCCACGTAAGGATAAAGACAGAGGTCAGGTGTGGTGGCTCACGCCTGTAATCCCAACACTTTCGGAGGCTGAGATGGGTGGATAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCAN
|
pathogenic
| 307,326 |
Evaluate this variant at chromosome 19, position 48965302, gene FTL (ferritin light chain): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
CTCCCTCTGGGTCTCTGCCCTCCTCTCTCTAGGTCTGTCCCCCTCCCCTCTCTCTCAGGGTCTCTGTACCCCTCTGTCTCCGGGTCTGTTTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCAGGGTCTCTGTCTGAGTCTCTTTTTCTCTGGGCCTCTGTCTCCCCACCCCACGTTCTCTATGGTCTTCAGATCCTGTCTCTCTCAGCCCCTCCTCTCCCTCCACCTATGGGCCCCAAGGCCCCTCTCGGCCGACTAAAGGTCTCTGGGCTGAGGTATGACATTTGGTAAATGAGTAACTCGGGCCCCACAGTCAACGGGGTGCTTTGGACGGCTGCCCCTCCTCCATGGACTCTTCCCAGAGACCCCAAGTCAGGGGAGAGAGAGGGGCAGAGGATCAATGAGTGTACACTGAGCCACCACCCAGAGTGAGGGGACAATATGGCCACAGGCAGGATCCCAGAAAAAAAAAAATTATGGGAACCAAAAAGACACGGAGACAAAGCACACAGCCGGCTTCCAACAAGGGGGGACCTTGGGGTAGGGGGCCCGATTTGGGTCTGAGCCAGGTCTAGTTCTGAGGGTCCCACCAAAAAAGTCGGGGAGTGCCAAGGGGATGAGGTCAGCGAGTGGCCCCACCCCCATCCGTCCCCGCGGGGGCCCCTTCCCGCGCTGAGCTCAGCATGACTCAGCAGTCGCTGCCTGCAACAAGGACCCCAGATACCGGCCTGGCGGGGCATCTGCAGATCCCCTCGGTCAGGGGCTGCCCCGCCTGGGCTGTTCGGAGCAGCTCCTCTGTAGGGCAGGGCCTGACCTCACCCCACACCCCAGTGGCTTCAGCTCCCTGCCCAGCGCACGGGCTGCCTCCATCAGGGCACTTAAGTAGAGTCAAGGTTTGCGCCGACTCCGTCTCCCAGAAATCAACGTGGACCAGGCCCACTTAAAAAATATGCATTAGTCGAAGACAGACGTCTCGTCCATAGGTCCCCAGACTGTTTGTCCACAACGCAGGGCTTCTCTTTGTGGGCCTGAAGGAGCACACGTCAGGCAAGACACGAGGGCAACTTCAGAGACACTGTTCAGGGCCACGGAGAATTCTCGAAGTCTGTGAGTTGTCTCCAAAACAGCCTCCAGGAAATGCAATCCCAGAGACACCGCAAAGCTCAAAACAGACTTTTCATTCCTCCCCATTTCCACTCCCAGAAAAAGCCTGGGCCCCTGAAAGAGCTCCAAGGTATCCCCAAAGTCCCAGCCCATCTTTGGAGGGTTCCAGAGGGCTGTCCAGGGTTCCAGAAGTCACCCTACCTCATACAATGCTCCTCCTGGGCTTCCCGCACTGGGTGAAACCCACGGCTCCAGAATAACTGCCCTTTCCAACTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGA
|
CTCCCTCTGGGTCTCTGCCCTCCTCTCTCTAGGTCTGTCCCCCTCCCCTCTCTCTCAGGGTCTCTGTACCCCTCTGTCTCCGGGTCTGTTTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCAGGGTCTCTGTCTGAGTCTCTTTTTCTCTGGGCCTCTGTCTCCCCACCCCACGTTCTCTATGGTCTTCAGATCCTGTCTCTCTCAGCCCCTCCTCTCCCTCCACCTATGGGCCCCAAGGCCCCTCTCGGCCGACTAAAGGTCTCTGGGCTGAGGTATGACATTTGGTAAATGAGTAACTCGGGCCCCACAGTCAACGGGGTGCTTTGGACGGCTGCCCCTCCTCCATGGACTCTTCCCAGAGACCCCAAGTCAGGGGAGAGAGAGGGGCAGAGGATCAATGAGTGTACACTGAGCCACCACCCAGAGTGAGGGGACAATATGGCCACAGGCAGGATCCCAGAAAAAAAAAAATTATGGGAACCAAAAAGACACGGAGACAAAGCACACAGCCGGCTTCCAACAAGGGGGGACCTTGGGGTAGGGGGCCCGATTTGGGTCTGAGCCAGGTCTAGTTCTGAGGGTCCCACCAAAAAAGTCGGGGAGTGCCAAGGGGATGAGGTCAGCGAGTGGCCCCACCCCCATCCGTCCCCGCGGGGGCCCCTTCCCGCGCTGAGCTCAGCATGACTCAGCAGTCGCTGCCTGCAACAAGGACCCCAGATACCGGCCTGGCGGGGCATCTGCAGATCCCCTCGGTCAGGGGCTGCCCCGCCTGGGCTGTTCGGAGCAGCTCCTCTGTAGGGCAGGGCCTGACCTCACCCCACACCCCAGTGGCTTCAGCTCCCTGCCCAGCGCACGGGCTGCCTCCATCAGGGCACTTAAGTAGAGTCAAGGTTTGCGCCGACTCCGTCTCCCAGAAATCAACGTGGACCAGGCCCACTTAAAAAATATGCATTAGTCGAAGACAGACGTCTCGTCCATAGGTCCCCAGACTGTTTGTCCACAACGCAGGGCTTCTCTTTGTGGGCCTGAAGGAGCACACGTCAGGCAAGACACGAGGGCAACTTCAGAGACACTGTTCAGGGCCACGGAGAATTCTCGAAGTCTGTGAGTTGTCTCCAAAACAGCCTCCAGGAAATGCAATCCCAGAGACACCGCAAAGCTCAAAACAGACTTTTCATTCCTCCCCATTTCCACTCCCAGAAAAAGCCTGGGCCCCTGAAAGAGCTCCAAGGTATCCCCAAAGTCCCAGCCCATCTTTGGAGGGTTCCAGAGGGCTGTCCAGGGTTCCAGAAGTCACCCTACCTCATACAATGCTCCTCCTGGGCTTCCCGCACTGGGTGAAACCCACGGCTCCAGAATAACTGCCCTTTCCAACTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGAN
|
benign
| 307,447 |
Variant in FTL (ferritin light chain), chromosome 19, position 48966683—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Neuroferritinopathy']
|
CTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGTCATTGCACTCCAGCCTGGGCAAAAAGAGTGGAACTCCCATCTCAAACAAAAAACATGTCTGCCTCACGGAAGTTGCGGTGAGCTGAGATGGCGCCACTGTGCTCCAGCTTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAGAAAAAAGCCTCAATTCTGGGAGGCAGTTGGAATTATTAGGCCCTTTATATGGGCACATTGACGCTATTGCTATGCAACTTGCATGGCAACCGGGGGGCTCACTGAGGTCTTTGCTCCAGAGTTTAAGAGATTATGGCCCGAGCTTGAGTGATCCCAATGTGAGGCGCACACTGAGAGGAACTGGCCAGTGGAGCTGAGCAGCCAGGAACACGTGATGCCCAAGCAATGCTGGACAAGGGGTTTAGGGTTCATCACAGAAATGGGATGTGAAACCTTGGGCCGGATTCTCCAAATGGGAACTGAAGAAGCTTAAAACAGGCCTTAAAAAGCACTTGCTGTGTCCAAGCTGCAAAACTGCTGTGTCAGCTCTGACTCTTCCCCTTCTCCTTCCCCTGGGTCTGGGGCAGGGTGGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGACGATCACTTGAGCCCAGGAGGTTGAGACCAGCCTAAGCAACATAGGGAGACCCCCCAAGTCTCTCTAGAATAAGAGGATGAGCTCAGACCAGGGAAGGGGTGGTACTGGGGGGACGTCACAGCCAGGCCCACCAAGTGTCATGTCTGACCACACCTGGGATTCTTAAATATAGATGTATTTTTTTCATCTCATCTCCGGACACACTCCAATCACACCCCTCCTGCCCTCCCCTCTCAACTGCAAACCAAGCGGTGCAGACACAGCACAGCACACATGAGGGGCCCTCCCTTTCACCAAAGCTGAAGGCAGGGCACAGTTTGGGGATGGAAGAGCCTCGAGGTAAATGTGGGGGTTCTAGAACCCAGTGACCTCAGTTCTGGATCATGGGAAAGGGATCAGTATGCAGTAACGTGGTAAGGTTCCAGATCTAGAAGCCAGGACCTAGAACCTAGTGGTTTCACAGTGGGCAGAGCAGTTGGGAATAAGCCAGGTTAGGGGTGGGGGAAGACAGCCAGCTCTGTCCTCTGCAGGCGGATTCCCTGGAGGGAGATCTCAGATTTAGAAAGGAAGAGTAGGATCTGGTCCAGAAAGGGCCAGAAAGACAGGAAGGCATCTGGACTGAGACTGTGTGTCCTCCAGAAGGAATGAGCAGCCAAGTGGTTCTACCACCTCTTGCTTGGCCAAAGTGTAGGGGATGACAGGAGCCGGATGGAGGGATCCTCCAGGCAGAGCCTGGCTCTGACATGCCAGGGAGGGCTAG
|
CTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGTCATTGCACTCCAGCCTGGGCAAAAAGAGTGGAACTCCCATCTCAAACAAAAAACATGTCTGCCTCACGGAAGTTGCGGTGAGCTGAGATGGCGCCACTGTGCTCCAGCTTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAGAAAAAAGCCTCAATTCTGGGAGGCAGTTGGAATTATTAGGCCCTTTATATGGGCACATTGACGCTATTGCTATGCAACTTGCATGGCAACCGGGGGGCTCACTGAGGTCTTTGCTCCAGAGTTTAAGAGATTATGGCCCGAGCTTGAGTGATCCCAATGTGAGGCGCACACTGAGAGGAACTGGCCAGTGGAGCTGAGCAGCCAGGAACACGTGATGCCCAAGCAATGCTGGACAAGGGGTTTAGGGTTCATCACAGAAATGGGATGTGAAACCTTGGGCCGGATTCTCCAAATGGGAACTGAAGAAGCTTAAAACAGGCCTTAAAAAGCACTTGCTGTGTCCAAGCTGCAAAACTGCTGTGTCAGCTCTGACTCTTCCCCTTCTCCTTCCCCTGGGTCTGGGGCAGGGTGGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGACGATCACTTGAGCCCAGGAGGTTGAGACCAGCCTAAGCAACATAGGGAGACCCCCCAAGTCTCTCTAGAATAAGAGGATGAGCTCAGACCAGGGAAGGGGTGGTACTGGGGGGACGTCACAGCCAGGCCCACCAAGTGTCATGTCTGACCACACCTGGGATTCTTAAATATAGATGTATTTTTTTCATCTCATCTCCGGACACACTCCAATCACACCCCTCCTGCCCTCCCCTCTCAACTGCAAACCAAGCGGTGCAGACACAGCACAGCACACATGAGGGGCCCTCCCTTTCACCAAAGCTGAAGGCAGGGCACAGTTTGGGGATGGAAGAGCCTCGAGGTAAATGTGGGGGTTCTAGAACCCAGTGACCTCAGTTCTGGATCATGGGAAAGGGATCAGTATGCAGTAACGTGGTAAGGTTCCAGATCTAGAAGCCAGGACCTAGAACCTAGTGGTTTCACAGTGGGCAGAGCAGTTGGGAATAAGCCAGGTTAGGGGTGGGGGAAGACAGCCAGCTCTGTCCTCTGCAGGCGGATTCCCTGGAGGGAGATCTCAGATTTAGAAAGGAAGAGTAGGATCTGGTCCAGAAAGGGCCAGAAAGACAGGAAGGCATCTGGACTGAGACTGTGTGTCCTCCAGAAGGAATGAGCAGCCAAGTGGTTCTACCACCTCTTGCTTGGCCAAAGTGTAGGGGATGACAGGAGCCGGATGGAGGGATCCTCCAGGCAGAGCCTGGCTCTGACATGCCAGGGAGG
|
pathogenic
| 307,464 |
Regarding the variant at chromosome 19 and position 48985448, affecting gene GYS1 (glycogen synthase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
TAACAGGGATCTGATCCACACTGGTGATTCTGGGAAAGTTGTACTTCTTTTGTTTCCTCTTAGCCCACCCTGAGATGGAAATGATTAAACATCCCCAAAGTCCTGCTTCTCCTAGGATATATCCTCTACTTCCAAGCTTCTTACAGGGACCCAATCATTTCTTCTCCTCATAGAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCAAATACAGGTCACCACCCCCACAGCCTTCTGGGAGCTGTAGTTCTCTATTCTTTAGGTAAAAAAATGGTAACTGATGGTCCCCAGCTTAGGACTTAGGATGGTCCAAGTTATGATTTTTCTTTTCGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACGACAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTGGCTGGGATTACAGGCGCCTGCCACCATGCCCACCTAATTTTTGTATTTTTGGCAGAGAGGGGGTCTCACAATGTTGGCCAGGCTGGTCTTGAGCACATGACCTCAGGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTGCCCAGCCAAGTTATGATTTTTCAACCTTATGATGGTGTGAAAGTTACATACATCCACATGAGTCCAATTTTGGATTTTGATGAGATATTCAACACTTTTTTTTTTTAATTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTATTCAACACTTTATTATAAAATAGGTTTGTATTAAAATTAGCCAGGCGTGGTGGCAGGCGCGTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAAATAAAATAAAACAGATTTGTATTGGATGATTTTGCCCAGTCGTAGGCTAACATAAAGTGTTCTGGGCACATTTAAGGTATACTAGCCTAAGCTATGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTTTTATTTTTTGAGACAGGGTCTCACTGTGTCACCCAGGCTGTGACAGGGTCTCTCCAGGCCACCCAAATCATGCAATGGCACGATCACAGCTCACTGCACCCTTGACCTCCTAGGCTCGAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGGATACAGGCACACACCATGTCTGGCGAATATTTTAGACAGGGATTCGCCATGTTGCCCAGGCTGGTCTCAAATTCCCGGGCTCAAGTGGTTCTCCTGCCTTGGCCTCTCAAAGTGCTGAGATTACAGGTGTGAGCCACCATGCCCAGCCGAAATACGTTTTCGGTTTATGCTATTTCAACTTACAGTGGGCTTCTTGGGCTGAGGAGCAACTGGCTTTGGCATAGACAGCTGCCTACCTCATTCACGTCTGGGGACTTCAGCCCAGCCCCTACCTGGTTTCCTCTTGAGCAAGTGCTGTGCCTCGATGGCGGTGATCTGGGACACAGTAGTGAAGACGTGAGCGCAGTGGGCTGCCGCCCTTTCCATGCAGTATCGGTGGTAGATCTGCCTCTCCCCTGCTTCCTTGTCCACGTTGAACTGGGTGGGAGGGGACAGCAGTCCGGTTAGAAGGATTGGGGAGAAGACTCTGGAGGTCCAGACACTGGGGTCCCAAGAGAAATTGGTGCTGGGGGCTGGATTCCTGGGTCTGAGGTAGGAGGGGTCTGGGGACTTGGACTCCTGGATCCTGGGAGAAGAGGGGGTGCCATCCCCTTGGGCCCCCCAGAGCTTTGGGTTTTCCTGGCATACTCGCAGTCCCCCATCTGCCACGGTCCCAGCTCACGTTCTCCAGGTTGTTGTAGAAGTCCACGGCACCGGCACACAGGTAGCGCCCCAGCAGCGTGGCATGGGTGGTGAAGATGGTTGCTACAGGCAGTCGCCGGGCACGACACAGGCAGAGTCCAACGCCTGCCAACCACTCATGGAAGTGAGCAACCACATGTGGCTTCTCCTCACTCTGTGCCAGGAACTGTGGGCAACAGGGACAGGGCCACTGTCTCCACGAGTGTTGGGAAAAGAATCGGCAATCCCCAGTAGGGACAAGGACTCGGGGAGAGGTCAATCTGTCACCACTACTGCACAGAGTGGGCAGCGGCCCACTGCAGCAATCCCAACCGGACAGGGACCTGTAAATCCCTGAGGCAGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGACTGCCTCCTCAGGGGTTGACAGGAACTGAGGATTTTTTGGCCAACCATCTAAGTCCTGGCAGGGTTAGATTGGACAGACTGAAGTTTTCATGTTCCCAGGTCCTGGACATAGTTTCCAAAGACCCCTTGTCTCAAGGGTACGCTGTCTGCACCCAACATTGGCAAAGGGACTACAACTCCCAGAATGCCATAGGAGCAGCCAGTTCCTCAATTATTTGTCCCAGGGCATGAGAAATTAAGCTTCTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGTGTCTCACTCTGTGGCCCAGGCTGGAGTGCCGTGATGCAATCTCAGCTCACTGCAATTCCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTTGTATGTTTAGTAAAGACGAGGTTTGGCCATCTTGAACTCCTGGCCTCACGTGATCTTCCCCCATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGGAAACTAAGCTTCTTGAGCCTCTTAAAACCTAGAAGGGGGTCAAAACCAGGTCAGGCTGGGGATTCATGAGCATCCAGGGCAGCATCTGAGAGCTGAGTCCAGCAATATCACACTAGAGAACTACAACTCCTAGAATTCCTCGGGCAAGCCCGCCAGCCTCACTTTGAGGCTGATTCCAAGAATCCCTATGCTTGGAAGACTAGAGTAAATGAAGTTGGCATCGAGAGTAGAGCCTGGGCCCTTGGATGTTCATGTCCTCAAAGGCCAGAGCTAATCCTTGGATTAAAGGACCCTATGACTCCCAGAATGCCCAGGGAGAAGCCCATCCTCTGGCCCAGGGGCTGATGGTCATTGTAGTTTCAGGTATGGGTGGAATGTGTCAGACGGGGCCTACCTCACCCAGGAACCAGGTGGTCAGAAAGCCAAAGAGGACAGCGTCGTTGGCCTCGCGGTCGTACCACGGCACTCCGATGTTGCAGGTATCCCAGAGCTCTCCCTTCCAGCGCTCCAGGGCCCAAGCTGAGGCACCCACGTCCAGGAGCACCACCAGAGGGCCTCCCTCGATCAGCCAGCGCCCGAAATACACCTGGGATGGGGTTGGGGAGGCACCATAGGGAGGCTCTGGGCTTCAGCCTCATATCTTCACTCATCCGTGGTTCTCCCATTTGCAGGCAGATGTCTATAGACTTAAGCCTC
|
TAACAGGGATCTGATCCACACTGGTGATTCTGGGAAAGTTGTACTTCTTTTGTTTCCTCTTAGCCCACCCTGAGATGGAAATGATTAAACATCCCCAAAGTCCTGCTTCTCCTAGGATATATCCTCTACTTCCAAGCTTCTTACAGGGACCCAATCATTTCTTCTCCTCATAGAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCAAATACAGGTCACCACCCCCACAGCCTTCTGGGAGCTGTAGTTCTCTATTCTTTAGGTAAAAAAATGGTAACTGATGGTCCCCAGCTTAGGACTTAGGATGGTCCAAGTTATGATTTTTCTTTTCGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACGACAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTGGCTGGGATTACAGGCGCCTGCCACCATGCCCACCTAATTTTTGTATTTTTGGCAGAGAGGGGGTCTCACAATGTTGGCCAGGCTGGTCTTGAGCACATGACCTCAGGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTGCCCAGCCAAGTTATGATTTTTCAACCTTATGATGGTGTGAAAGTTACATACATCCACATGAGTCCAATTTTGGATTTTGATGAGATATTCAACACTTTTTTTTTTTAATTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTATTCAACACTTTATTATAAAATAGGTTTGTATTAAAATTAGCCAGGCGTGGTGGCAGGCGCGTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAAATAAAATAAAACAGATTTGTATTGGATGATTTTGCCCAGTCGTAGGCTAACATAAAGTGTTCTGGGCACATTTAAGGTATACTAGCCTAAGCTATGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTTTTATTTTTTGAGACAGGGTCTCACTGTGTCACCCAGGCTGTGACAGGGTCTCTCCAGGCCACCCAAATCATGCAATGGCACGATCACAGCTCACTGCACCCTTGACCTCCTAGGCTCGAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGGATACAGGCACACACCATGTCTGGCGAATATTTTAGACAGGGATTCGCCATGTTGCCCAGGCTGGTCTCAAATTCCCGGGCTCAAGTGGTTCTCCTGCCTTGGCCTCTCAAAGTGCTGAGATTACAGGTGTGAGCCACCATGCCCAGCCGAAATACGTTTTCGGTTTATGCTATTTCAACTTACAGTGGGCTTCTTGGGCTGAGGAGCAACTGGCTTTGGCATAGACAGCTGCCTACCTCATTCACGTCTGGGGACTTCAGCAGCCCCTACCTGGTTTCCTCTTGAGCAAGTGCTGTGCCTCGATGGCGGTGATCTGGGACACAGTAGTGAAGACGTGAGCGCAGTGGGCTGCCGCCCTTTCCATGCAGTATCGGTGGTAGATCTGCCTCTCCCCTGCTTCCTTGTCCACGTTGAACTGGGTGGGAGGGGACAGCAGTCCGGTTAGAAGGATTGGGGAGAAGACTCTGGAGGTCCAGACACTGGGGTCCCAAGAGAAATTGGTGCTGGGGGCTGGATTCCTGGGTCTGAGGTAGGAGGGGTCTGGGGACTTGGACTCCTGGATCCTGGGAGAAGAGGGGGTGCCATCCCCTTGGGCCCCCCAGAGCTTTGGGTTTTCCTGGCATACTCGCAGTCCCCCATCTGCCACGGTCCCAGCTCACGTTCTCCAGGTTGTTGTAGAAGTCCACGGCACCGGCACACAGGTAGCGCCCCAGCAGCGTGGCATGGGTGGTGAAGATGGTTGCTACAGGCAGTCGCCGGGCACGACACAGGCAGAGTCCAACGCCTGCCAACCACTCATGGAAGTGAGCAACCACATGTGGCTTCTCCTCACTCTGTGCCAGGAACTGTGGGCAACAGGGACAGGGCCACTGTCTCCACGAGTGTTGGGAAAAGAATCGGCAATCCCCAGTAGGGACAAGGACTCGGGGAGAGGTCAATCTGTCACCACTACTGCACAGAGTGGGCAGCGGCCCACTGCAGCAATCCCAACCGGACAGGGACCTGTAAATCCCTGAGGCAGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGACTGCCTCCTCAGGGGTTGACAGGAACTGAGGATTTTTTGGCCAACCATCTAAGTCCTGGCAGGGTTAGATTGGACAGACTGAAGTTTTCATGTTCCCAGGTCCTGGACATAGTTTCCAAAGACCCCTTGTCTCAAGGGTACGCTGTCTGCACCCAACATTGGCAAAGGGACTACAACTCCCAGAATGCCATAGGAGCAGCCAGTTCCTCAATTATTTGTCCCAGGGCATGAGAAATTAAGCTTCTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGTGTCTCACTCTGTGGCCCAGGCTGGAGTGCCGTGATGCAATCTCAGCTCACTGCAATTCCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTTGTATGTTTAGTAAAGACGAGGTTTGGCCATCTTGAACTCCTGGCCTCACGTGATCTTCCCCCATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGGAAACTAAGCTTCTTGAGCCTCTTAAAACCTAGAAGGGGGTCAAAACCAGGTCAGGCTGGGGATTCATGAGCATCCAGGGCAGCATCTGAGAGCTGAGTCCAGCAATATCACACTAGAGAACTACAACTCCTAGAATTCCTCGGGCAAGCCCGCCAGCCTCACTTTGAGGCTGATTCCAAGAATCCCTATGCTTGGAAGACTAGAGTAAATGAAGTTGGCATCGAGAGTAGAGCCTGGGCCCTTGGATGTTCATGTCCTCAAAGGCCAGAGCTAATCCTTGGATTAAAGGACCCTATGACTCCCAGAATGCCCAGGGAGAAGCCCATCCTCTGGCCCAGGGGCTGATGGTCATTGTAGTTTCAGGTATGGGTGGAATGTGTCAGACGGGGCCTACCTCACCCAGGAACCAGGTGGTCAGAAAGCCAAAGAGGACAGCGTCGTTGGCCTCGCGGTCGTACCACGGCACTCCGATGTTGCAGGTATCCCAGAGCTCTCCCTTCCAGCGCTCCAGGGCCCAAGCTGAGGCACCCACGTCCAGGAGCACCACCAGAGGGCCTCCCTCGATCAGCCAGCGCCCGAAATACACCTGGGATGGGGTTGGGGAGGCACCATAGGGAGGCTCTGGGCTTCAGCCTCATATCTTCACTCATCCGTGGTTCTCCCATTTGCAGGCAGATGTCTATAGACTTAAGCCTCNN
|
benign
| 307,507 |
Is the variant located on chromosome 19 at position 48985620, gene GYS1 (glycogen synthase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
GAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCAAATACAGGTCACCACCCCCACAGCCTTCTGGGAGCTGTAGTTCTCTATTCTTTAGGTAAAAAAATGGTAACTGATGGTCCCCAGCTTAGGACTTAGGATGGTCCAAGTTATGATTTTTCTTTTCGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACGACAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTGGCTGGGATTACAGGCGCCTGCCACCATGCCCACCTAATTTTTGTATTTTTGGCAGAGAGGGGGTCTCACAATGTTGGCCAGGCTGGTCTTGAGCACATGACCTCAGGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTGCCCAGCCAAGTTATGATTTTTCAACCTTATGATGGTGTGAAAGTTACATACATCCACATGAGTCCAATTTTGGATTTTGATGAGATATTCAACACTTTTTTTTTTTAATTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTATTCAACACTTTATTATAAAATAGGTTTGTATTAAAATTAGCCAGGCGTGGTGGCAGGCGCGTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAAATAAAATAAAACAGATTTGTATTGGATGATTTTGCCCAGTCGTAGGCTAACATAAAGTGTTCTGGGCACATTTAAGGTATACTAGCCTAAGCTATGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTTTTATTTTTTGAGACAGGGTCTCACTGTGTCACCCAGGCTGTGACAGGGTCTCTCCAGGCCACCCAAATCATGCAATGGCACGATCACAGCTCACTGCACCCTTGACCTCCTAGGCTCGAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGGATACAGGCACACACCATGTCTGGCGAATATTTTAGACAGGGATTCGCCATGTTGCCCAGGCTGGTCTCAAATTCCCGGGCTCAAGTGGTTCTCCTGCCTTGGCCTCTCAAAGTGCTGAGATTACAGGTGTGAGCCACCATGCCCAGCCGAAATACGTTTTCGGTTTATGCTATTTCAACTTACAGTGGGCTTCTTGGGCTGAGGAGCAACTGGCTTTGGCATAGACAGCTGCCTACCTCATTCACGTCTGGGGACTTCAGCCCAGCCCCTACCTGGTTTCCTCTTGAGCAAGTGCTGTGCCTCGATGGCGGTGATCTGGGACACAGTAGTGAAGACGTGAGCGCAGTGGGCTGCCGCCCTTTCCATGCAGTATCGGTGGTAGATCTGCCTCTCCCCTGCTTCCTTGTCCACGTTGAACTGGGTGGGAGGGGACAGCAGTCCGGTTAGAAGGATTGGGGAGAAGACTCTGGAGGTCCAGACACTGGGGTCCCAAGAGAAATTGGTGCTGGGGGCTGGATTCCTGGGTCTGAGGTAGGAGGGGTCTGGGGACTTGGACTCCTGGATCCTGGGAGAAGAGGGGGTGCCATCCCCTTGGGCCCCCCAGAGCTTTGGGTTTTCCTGGCATACTCGCAGTCCCCCATCTGCCACGGTCCCAGCTCACGTTCTCCAGGTTGTTGTAGAAGTCCACGGCACCGGCACACAGGTAGCGCCCCAGCAGCGTGGCATGGGTGGTGAAGATGGTTGCTACAGGCAGTCGCCGGGCACGACACAGGCAGAGTCCAACGCCTGCCAACCACTCATGGAAGTGAGCAACCACATGTGGCTTCTCCTCACTCTGTGCCAGGAACTGTGGGCAACAGGGACAGGGCCACTGTCTCCACGAGTGTTGGGAAAAGAATCGGCAATCCCCAGTAGGGACAAGGACTCGGGGAGAGGTCAATCTGTCACCACTACTGCACAGAGTGGGCAGCGGCCCACTGCAGCAATCCCAACCGGACAGGGACCTGTAAATCCCTGAGGCAGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGACTGCCTCCTCAGGGGTTGACAGGAACTGAGGATTTTTTGGCCAACCATCTAAGTCCTGGCAGGGTTAGATTGGACAGACTGAAGTTTTCATGTTCCCAGGTCCTGGACATAGTTTCCAAAGACCCCTTGTCTCAAGGGTACGCTGTCTGCACCCAACATTGGCAAAGGGACTACAACTCCCAGAATGCCATAGGAGCAGCCAGTTCCTCAATTATTTGTCCCAGGGCATGAGAAATTAAGCTTCTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGTGTCTCACTCTGTGGCCCAGGCTGGAGTGCCGTGATGCAATCTCAGCTCACTGCAATTCCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTTGTATGTTTAGTAAAGACGAGGTTTGGCCATCTTGAACTCCTGGCCTCACGTGATCTTCCCCCATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGGAAACTAAGCTTCTTGAGCCTCTTAAAACCTAGAAGGGGGTCAAAACCAGGTCAGGCTGGGGATTCATGAGCATCCAGGGCAGCATCTGAGAGCTGAGTCCAGCAATATCACACTAGAGAACTACAACTCCTAGAATTCCTCGGGCAAGCCCGCCAGCCTCACTTTGAGGCTGATTCCAAGAATCCCTATGCTTGGAAGACTAGAGTAAATGAAGTTGGCATCGAGAGTAGAGCCTGGGCCCTTGGATGTTCATGTCCTCAAAGGCCAGAGCTAATCCTTGGATTAAAGGACCCTATGACTCCCAGAATGCCCAGGGAGAAGCCCATCCTCTGGCCCAGGGGCTGATGGTCATTGTAGTTTCAGGTATGGGTGGAATGTGTCAGACGGGGCCTACCTCACCCAGGAACCAGGTGGTCAGAAAGCCAAAGAGGACAGCGTCGTTGGCCTCGCGGTCGTACCACGGCACTCCGATGTTGCAGGTATCCCAGAGCTCTCCCTTCCAGCGCTCCAGGGCCCAAGCTGAGGCACCCACGTCCAGGAGCACCACCAGAGGGCCTCCCTCGATCAGCCAGCGCCCGAAATACACCTGGGATGGGGTTGGGGAGGCACCATAGGGAGGCTCTGGGCTTCAGCCTCATATCTTCACTCATCCGTGGTTCTCCCATTTGCAGGCAGATGTCTATAGACTTAAGCCTCAGCTCTCTTATCTTCTGTTTCCATATCTGCTGCTAATTTCTCACCTGCTGCCTTAGCCTTACTTCTCTATTTGCATGATTTATTCCTGCTACACATTTTTTCCATCTCTGTTGCAATATTTTCCGTGCCCCCTGCTTACTTTCTTTCTTTCTTTTTTTTGAGATGGAGTCTC
|
GAAATTAAAGTATATCAACGAAAAACTACAACCCCCATCAGCGCCTAGGGCAAAGTTCTGGAACATATAGAGCTAACCAGTCAAAGGCCTTCTGGGAGTTGTAGTTCTCACCTTATACTCACTGAGAACGGATACTAAGGGCTGGGAAGAATGCCCAGTTCTGACCTAACCTTTCTCAAAAGCAAAGTCCACTGATCTTCCATTCCCTTTCATAAGACCAATCTACATTAGCCAATTACAGAATTTTATCATATCTGAAATTAATATGAAAGAAATTATACCTCCCATTAGCCTCCAGAGTATATAGTCAGAGAGCCTCAAATACAGGTCACCACCCCCACAGCCTTCTGGGAGCTGTAGTTCTCTATTCTTTAGGTAAAAAAATGGTAACTGATGGTCCCCAGCTTAGGACTTAGGATGGTCCAAGTTATGATTTTTCTTTTCGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACGACAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTGGCTGGGATTACAGGCGCCTGCCACCATGCCCACCTAATTTTTGTATTTTTGGCAGAGAGGGGGTCTCACAATGTTGGCCAGGCTGGTCTTGAGCACATGACCTCAGGTGATCTGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTGCCCAGCCAAGTTATGATTTTTCAACCTTATGATGGTGTGAAAGTTACATACATCCACATGAGTCCAATTTTGGATTTTGATGAGATATTCAACACTTTTTTTTTTTAATTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCCCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTATTCAACACTTTATTATAAAATAGGTTTGTATTAAAATTAGCCAGGCGTGGTGGCAGGCGCGTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTACAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAAATAAAATAAAACAGATTTGTATTGGATGATTTTGCCCAGTCGTAGGCTAACATAAAGTGTTCTGGGCACATTTAAGGTATACTAGCCTAAGCTATGATGTTCAGTAGGTTAGGTGTATTAAATGCATTTTTTTATTTTTTGAGACAGGGTCTCACTGTGTCACCCAGGCTGTGACAGGGTCTCTCCAGGCCACCCAAATCATGCAATGGCACGATCACAGCTCACTGCACCCTTGACCTCCTAGGCTCGAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGGATACAGGCACACACCATGTCTGGCGAATATTTTAGACAGGGATTCGCCATGTTGCCCAGGCTGGTCTCAAATTCCCGGGCTCAAGTGGTTCTCCTGCCTTGGCCTCTCAAAGTGCTGAGATTACAGGTGTGAGCCACCATGCCCAGCCGAAATACGTTTTCGGTTTATGCTATTTCAACTTACAGTGGGCTTCTTGGGCTGAGGAGCAACTGGCTTTGGCATAGACAGCTGCCTACCTCATTCACGTCTGGGGACTTCAGCCCAGCCCCTACCTGGTTTCCTCTTGAGCAAGTGCTGTGCCTCGATGGCGGTGATCTGGGACACAGTAGTGAAGACGTGAGCGCAGTGGGCTGCCGCCCTTTCCATGCAGTATCGGTGGTAGATCTGCCTCTCCCCTGCTTCCTTGTCCACGTTGAACTGGGTGGGAGGGGAAGCAGTCCGGTTAGAAGGATTGGGGAGAAGACTCTGGAGGTCCAGACACTGGGGTCCCAAGAGAAATTGGTGCTGGGGGCTGGATTCCTGGGTCTGAGGTAGGAGGGGTCTGGGGACTTGGACTCCTGGATCCTGGGAGAAGAGGGGGTGCCATCCCCTTGGGCCCCCCAGAGCTTTGGGTTTTCCTGGCATACTCGCAGTCCCCCATCTGCCACGGTCCCAGCTCACGTTCTCCAGGTTGTTGTAGAAGTCCACGGCACCGGCACACAGGTAGCGCCCCAGCAGCGTGGCATGGGTGGTGAAGATGGTTGCTACAGGCAGTCGCCGGGCACGACACAGGCAGAGTCCAACGCCTGCCAACCACTCATGGAAGTGAGCAACCACATGTGGCTTCTCCTCACTCTGTGCCAGGAACTGTGGGCAACAGGGACAGGGCCACTGTCTCCACGAGTGTTGGGAAAAGAATCGGCAATCCCCAGTAGGGACAAGGACTCGGGGAGAGGTCAATCTGTCACCACTACTGCACAGAGTGGGCAGCGGCCCACTGCAGCAATCCCAACCGGACAGGGACCTGTAAATCCCTGAGGCAGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGACTGCCTCCTCAGGGGTTGACAGGAACTGAGGATTTTTTGGCCAACCATCTAAGTCCTGGCAGGGTTAGATTGGACAGACTGAAGTTTTCATGTTCCCAGGTCCTGGACATAGTTTCCAAAGACCCCTTGTCTCAAGGGTACGCTGTCTGCACCCAACATTGGCAAAGGGACTACAACTCCCAGAATGCCATAGGAGCAGCCAGTTCCTCAATTATTTGTCCCAGGGCATGAGAAATTAAGCTTCTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTGAGACAGTGTCTCACTCTGTGGCCCAGGCTGGAGTGCCGTGATGCAATCTCAGCTCACTGCAATTCCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTTGGGATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTTGTATGTTTAGTAAAGACGAGGTTTGGCCATCTTGAACTCCTGGCCTCACGTGATCTTCCCCCATCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGGAAACTAAGCTTCTTGAGCCTCTTAAAACCTAGAAGGGGGTCAAAACCAGGTCAGGCTGGGGATTCATGAGCATCCAGGGCAGCATCTGAGAGCTGAGTCCAGCAATATCACACTAGAGAACTACAACTCCTAGAATTCCTCGGGCAAGCCCGCCAGCCTCACTTTGAGGCTGATTCCAAGAATCCCTATGCTTGGAAGACTAGAGTAAATGAAGTTGGCATCGAGAGTAGAGCCTGGGCCCTTGGATGTTCATGTCCTCAAAGGCCAGAGCTAATCCTTGGATTAAAGGACCCTATGACTCCCAGAATGCCCAGGGAGAAGCCCATCCTCTGGCCCAGGGGCTGATGGTCATTGTAGTTTCAGGTATGGGTGGAATGTGTCAGACGGGGCCTACCTCACCCAGGAACCAGGTGGTCAGAAAGCCAAAGAGGACAGCGTCGTTGGCCTCGCGGTCGTACCACGGCACTCCGATGTTGCAGGTATCCCAGAGCTCTCCCTTCCAGCGCTCCAGGGCCCAAGCTGAGGCACCCACGTCCAGGAGCACCACCAGAGGGCCTCCCTCGATCAGCCAGCGCCCGAAATACACCTGGGATGGGGTTGGGGAGGCACCATAGGGAGGCTCTGGGCTTCAGCCTCATATCTTCACTCATCCGTGGTTCTCCCATTTGCAGGCAGATGTCTATAGACTTAAGCCTCAGCTCTCTTATCTTCTGTTTCCATATCTGCTGCTAATTTCTCACCTGCTGCCTTAGCCTTACTTCTCTATTTGCATGATTTATTCCTGCTACACATTTTTTCCATCTCTGTTGCAATATTTTCCGTGCCCCCTGCTTACTTTCTTTCTTTCTTTTTTTTGAGATGGAGTCTCN
|
benign
| 307,510 |
Does the genetic variant at chromosome 19, position 48991438, impacting gene GYS1 (glycogen synthase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency']
|
GAGAATTGCTTGAACGCGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATCCTCTGTCCGTGCCCCAGGGCTGCATTTTTCTAGCCACTGCCGTGTTTCTAAGACTTGCTGTCTCACTTCTGCCTCTGCCACATTTCTCCAGTTGGCTGTTTTCCTCCCTGAGACCATGGCTTTGGTTCTGGGCCTGCTGCCACAGCAGTGGAGAAGCAGCCCCGCTCCTCGCCGACCTGGCTTTTTGCTGCCTGGAGCCTCGCTCTGAGGTCCCTCCCCCTCCCAGCTGTTGTCTGCCCTTTTGCTGGGGGGGGGGGGGGGCTATTCTTAGGCCCCCAGCACGTGGGAAGCAGCTGCCCTCAGGAAGCGACTGGGCTGTTCTGGGTTCCCTTAGGGACACAGTCGGACCTGAATGGATTCCAGACCCCACCCCAAACCAGAGGCTGTGAATGAGTAAAGGAACCACAGTGCCTCTCCATCCCCAGCCTGGACCTGTCTGTCCCTTAGCCCTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGTCTCTTTCCGTCTTCACCCTGGGGCCCTGGAACTCCCCCTCCTCTCTAATCCCTGATCTGCCCATCTCAGACTCTGTCCTGTGGGTCTGTCCACTGACCTCTCCTCTCTTCCCCGATATTCCATGCTTCTCTCTCCTTCTAGGACTGGCTTTCTGAAACATCTGGTGGCCTCTCTTCTGTCCCCAGTCTATTACTCTTGCCTGTGGCTCCATCCACCCTTCTCCCTTGGTCTGCCTGTCCCCCTCACTCTCCAAGCTTGGCTGTTAGTAACAATAATGACGATGATCATAACAATGACAATCACCGCCCACACAATGTGCTACCTTCATGCCAAGAACTCTACTAACCACTTTGTCCTTATTAACTGTTTCCTCCTCCCAGCACCGCTAGAAGGTAGACGCTATTAGCATGTCCATTAGCCAAGGACACACAGGCAGCAAGTGGAGGGTGAACTTGAACTTCAAGCTCCAGAATCCTGCTCCTTCCTGACCTCAGGCCCACTTCTCCCCAGCTCTGCCTGGCTGGCTGGCATTCTTTTCTGAGACAGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCGCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGACCAGGCTGTCTTTCGATCTTGCTCTCTTTCTCTCTGGGTCTGAGGACCTTGGCCTCTTGGATCTCCGTCTCAGTCTGTCTCATACTTGCCATCTGTCTGTCCATTCGCCCATGTCTGGGATCCACCCACCCACTTCCAGGCCCTGCATCTGTCTGGGTGTCCTATCACGCCTCCTTCCTGTGTCCAAGCCTGCCTCGCTCTCTGGCTGGGGCTGTCCACCCTGCACCCTCTCCGTCTGTGGCTCCCACCCCGATGGCAGGCTGTCCACCCGCTTCTGCCCTGGGCTGGGCCACGTCCCACCTTGCAGCCCTTGCTGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGG
|
GAGAATTGCTTGAACGCGGGAGGCGGAGGTTGCAGTGAGTCGAGATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATCCTCTGTCCGTGCCCCAGGGCTGCATTTTTCTAGCCACTGCCGTGTTTCTAAGACTTGCTGTCTCACTTCTGCCTCTGCCACATTTCTCCAGTTGGCTGTTTTCCTCCCTGAGACCATGGCTTTGGTTCTGGGCCTGCTGCCACAGCAGTGGAGAAGCAGCCCCGCTCCTCGCCGACCTGGCTTTTTGCTGCCTGGAGCCTCGCTCTGAGGTCCCTCCCCCTCCCAGCTGTTGTCTGCCCTTTTGCTGGGGGGGGGGGGGGGCTATTCTTAGGCCCCCAGCACGTGGGAAGCAGCTGCCCTCAGGAAGCGACTGGGCTGTTCTGGGTTCCCTTAGGGACACAGTCGGACCTGAATGGATTCCAGACCCCACCCCAAACCAGAGGCTGTGAATGAGTAAAGGAACCACAGTGCCTCTCCATCCCCAGCCTGGACCTGTCTGTCCCTTAGCCCTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGTCTCTTTCCGTCTTCACCCTGGGGCCCTGGAACTCCCCCTCCTCTCTAATCCCTGATCTGCCCATCTCAGACTCTGTCCTGTGGGTCTGTCCACTGACCTCTCCTCTCTTCCCCGATATTCCATGCTTCTCTCTCCTTCTAGGACTGGCTTTCTGAAACATCTGGTGGCCTCTCTTCTGTCCCCAGTCTATTACTCTTGCCTGTGGCTCCATCCACCCTTCTCCCTTGGTCTGCCTGTCCCCCTCACTCTCCAAGCTTGGCTGTTAGTAACAATAATGACGATGATCATAACAATGACAATCACCGCCCACACAATGTGCTACCTTCATGCCAAGAACTCTACTAACCACTTTGTCCTTATTAACTGTTTCCTCCTCCCAGCACCGCTAGAAGGTAGACGCTATTAGCATGTCCATTAGCCAAGGACACACAGGCAGCAAGTGGAGGGTGAACTTGAACTTCAAGCTCCAGAATCCTGCTCCTTCCTGACCTCAGGCCCACTTCTCCCCAGCTCTGCCTGGCTGGCTGGCATTCTTTTCTGAGACAGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCGCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGACCAGGCTGTCTTTCGATCTTGCTCTCTTTCTCTCTGGGTCTGAGGACCTTGGCCTCTTGGATCTCCGTCTCAGTCTGTCTCATACTTGCCATCTGTCTGTCCATTCGCCCATGTCTGGGATCCACCCACCCACTTCCAGGCCCTGCATCTGTCTGGGTGTCCTATCACGCCTCCTTCCTGTGTCCAAGCCTGCCTCGCTCTCTGGCTGGGGCTGTCCACCCTGCACCCTCTCCGTCTGTGGCTCCCACCCCGATGGCAGGCTGTCCACCCGCTTCTGCCCTGGGCTGGGCCACGTCCCACCTTGCAGCCCTTGCTGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGNN
|
pathogenic
| 307,526 |
Does the genetic variant at chromosome 19, position 48991481, impacting gene GYS1 (glycogen synthase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency']
|
GATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATCCTCTGTCCGTGCCCCAGGGCTGCATTTTTCTAGCCACTGCCGTGTTTCTAAGACTTGCTGTCTCACTTCTGCCTCTGCCACATTTCTCCAGTTGGCTGTTTTCCTCCCTGAGACCATGGCTTTGGTTCTGGGCCTGCTGCCACAGCAGTGGAGAAGCAGCCCCGCTCCTCGCCGACCTGGCTTTTTGCTGCCTGGAGCCTCGCTCTGAGGTCCCTCCCCCTCCCAGCTGTTGTCTGCCCTTTTGCTGGGGGGGGGGGGGGGCTATTCTTAGGCCCCCAGCACGTGGGAAGCAGCTGCCCTCAGGAAGCGACTGGGCTGTTCTGGGTTCCCTTAGGGACACAGTCGGACCTGAATGGATTCCAGACCCCACCCCAAACCAGAGGCTGTGAATGAGTAAAGGAACCACAGTGCCTCTCCATCCCCAGCCTGGACCTGTCTGTCCCTTAGCCCTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGTCTCTTTCCGTCTTCACCCTGGGGCCCTGGAACTCCCCCTCCTCTCTAATCCCTGATCTGCCCATCTCAGACTCTGTCCTGTGGGTCTGTCCACTGACCTCTCCTCTCTTCCCCGATATTCCATGCTTCTCTCTCCTTCTAGGACTGGCTTTCTGAAACATCTGGTGGCCTCTCTTCTGTCCCCAGTCTATTACTCTTGCCTGTGGCTCCATCCACCCTTCTCCCTTGGTCTGCCTGTCCCCCTCACTCTCCAAGCTTGGCTGTTAGTAACAATAATGACGATGATCATAACAATGACAATCACCGCCCACACAATGTGCTACCTTCATGCCAAGAACTCTACTAACCACTTTGTCCTTATTAACTGTTTCCTCCTCCCAGCACCGCTAGAAGGTAGACGCTATTAGCATGTCCATTAGCCAAGGACACACAGGCAGCAAGTGGAGGGTGAACTTGAACTTCAAGCTCCAGAATCCTGCTCCTTCCTGACCTCAGGCCCACTTCTCCCCAGCTCTGCCTGGCTGGCTGGCATTCTTTTCTGAGACAGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCGCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGACCAGGCTGTCTTTCGATCTTGCTCTCTTTCTCTCTGGGTCTGAGGACCTTGGCCTCTTGGATCTCCGTCTCAGTCTGTCTCATACTTGCCATCTGTCTGTCCATTCGCCCATGTCTGGGATCCACCCACCCACTTCCAGGCCCTGCATCTGTCTGGGTGTCCTATCACGCCTCCTTCCTGTGTCCAAGCCTGCCTCGCTCTCTGGCTGGGGCTGTCCACCCTGCACCCTCTCCGTCTGTGGCTCCCACCCCGATGGCAGGCTGTCCACCCGCTTCTGCCCTGGGCTGGGCCACGTCCCACCTTGCAGCCCTTGCTGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGGCGGAGCTTGCCGCTGCGCTTTACGGAAACGAGTGGCCTTCAG
|
GATTGTACCACTGCACTCCAGACTCAGCGACAGAGTGAGATTCTATCTGAAAAAAAAAAAAAAAAAATTATGGCTCACTACAGCCTCCACATCCCATCCTCCCACCTCAGCCTCCTGAGTAACTGGGATCACGAGCACGCACCATCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCGCCATGTTGCCCAGGTGGGTCAGGAACTCCTGGGCTCAAGCTATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACCGCCCTCGGCCACGCCACACATTTCTAACATAGCCCATCCTCTGTCCGTGCCCCAGGGCTGCATTTTTCTAGCCACTGCCGTGTTTCTAAGACTTGCTGTCTCACTTCTGCCTCTGCCACATTTCTCCAGTTGGCTGTTTTCCTCCCTGAGACCATGGCTTTGGTTCTGGGCCTGCTGCCACAGCAGTGGAGAAGCAGCCCCGCTCCTCGCCGACCTGGCTTTTTGCTGCCTGGAGCCTCGCTCTGAGGTCCCTCCCCCTCCCAGCTGTTGTCTGCCCTTTTGCTGGGGGGGGGGGGGGGCTATTCTTAGGCCCCCAGCACGTGGGAAGCAGCTGCCCTCAGGAAGCGACTGGGCTGTTCTGGGTTCCCTTAGGGACACAGTCGGACCTGAATGGATTCCAGACCCCACCCCAAACCAGAGGCTGTGAATGAGTAAAGGAACCACAGTGCCTCTCCATCCCCAGCCTGGACCTGTCTGTCCCTTAGCCCTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCGTGTCTCTTTCCGTCTTCACCCTGGGGCCCTGGAACTCCCCCTCCTCTCTAATCCCTGATCTGCCCATCTCAGACTCTGTCCTGTGGGTCTGTCCACTGACCTCTCCTCTCTTCCCCGATATTCCATGCTTCTCTCTCCTTCTAGGACTGGCTTTCTGAAACATCTGGTGGCCTCTCTTCTGTCCCCAGTCTATTACTCTTGCCTGTGGCTCCATCCACCCTTCTCCCTTGGTCTGCCTGTCCCCCTCACTCTCCAAGCTTGGCTGTTAGTAACAATAATGACGATGATCATAACAATGACAATCACCGCCCACACAATGTGCTACCTTCATGCCAAGAACTCTACTAACCACTTTGTCCTTATTAACTGTTTCCTCCTCCCAGCACCGCTAGAAGGTAGACGCTATTAGCATGTCCATTAGCCAAGGACACACAGGCAGCAAGTGGAGGGTGAACTTGAACTTCAAGCTCCAGAATCCTGCTCCTTCCTGACCTCAGGCCCACTTCTCCCCAGCTCTGCCTGGCTGGCTGGCATTCTTTTCTGAGACAGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCCCAATCGCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCATGTTGACCAGGCTGTCTTTCGATCTTGCTCTCTTTCTCTCTGGGTCTGAGGACCTTGGCCTCTTGGATCTCCGTCTCAGTCTGTCTCATACTTGCCATCTGTCTGTCCATTCGCCCATGTCTGGGATCCACCCACCCACTTCCAGGCCCTGCATCTGTCTGGGTGTCCTATCACGCCTCCTTCCTGTGTCCAAGCCTGCCTCGCTCTCTGGCTGGGGCTGTCCACCCTGCACCCTCTCCGTCTGTGGCTCCCACCCCGATGGCAGGCTGTCCACCCGCTTCTGCCCTGGGCTGGGCCACGTCCCACCTTGCAGCCCTTGCTGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGGCGGAGCTTGCCGCTGCGCTTTACGGAAACGAGTGGCCTTCAGNNNN
|
pathogenic
| 307,527 |
The genetic variant at chromosome 19, position 48993364, affecting gene GYS1: benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
TGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGGCGGAGCTTGCCGCTGCGCTTTACGGAAACGAGTGGCCTTCAGCTCTGTCAATCTGGAGCTGGAGGCCTCAAAGTGGGGAGGAGGAGGAGGGTGGGATAAAGAGGAAAGGAGCGTGGAGGACGTGTGGTTACTCAAAGAACAGCTAAGAATTTTGCAATCGGCCTGAGCGGGGCGGTGGTGGGGCTGAGCAAAAGGAGGAGGAGCCAGGAGACATTGGGAATGGACCCAGGAGTTCCGGACGCCCGTCTTCCAGCGCAGCCTCGGTGGGAGGGCGGGGCATAAAGTCCCGCCACGCCCCCACAATATTTACATATTTATGAGGAACCATCGAGATCTTTGAAGAACCAGCTAGCCTAGAGGAGCCAGAACATCTCGCTCCTCGCGCGTTTCCGTTTCCGCTAGGACTCTGGCAGTTGGTGAGCATCATGGCAACCGTTGTAAGTGTGGGTGCATGGAGGGTGAGGAGCGAGCTAGCAGTCTCGAGTTTGAGAGAGGAGGATGCTGGAGGCCCTGACTCCTGGGTCTGAGGGAGGGGGGATCTGGGGGTTCAGACTCCTGGGTCTGAAAGAGGAGGAAGCTCGGCCACCCAGATCTGGGGGAGAAGGGGACATGGGGGCTGGACTTCTGGATCTGAGGCGGGGAGGGGGCTGGGATCCCAGAATCTCGGGTCTGGCCCCATCATGCTATAGGAACTCCAACTTTCAAAATCATCTTGGCGCAACGGCCGGTTCCGCAGTCCTTGGCGCCAGTGTGTGATGAGGAGGGTTGTAGGACCTTGCGCTTCGAGCCATTTGGGAGCCTTGGATTGTTAGTGGTGCCAATGGCACTTGAGTTCCAAGCTGGAAGCACAGGCAGGTACCTGTTCAGTGTGTCTGAGAGCGCGAGGGCGCCTAGTGAGCCTTTAGTGGGAAGAAATTGTCGAGGAACAAGAGAGTCTTAGTGGAGAGGACTGAAGGATTAGGGACCCAGAAATCGGGATCTTGTCATGCTACCGTTTTGGCCATTTTCATATTTCCAGTATTTCACACGGGCTACGTCTCAGTGTAAATGCTCAATAAATTATCACTTGAATATTTGAATGAATGAATACATGTGAATGAAGGAGAGGCCAGGAAACTTGGCCTGGCACCTGCTCAATTACCTGAATAAAGAAGCGATTTTGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTCAGGTCAGGAGTTCGTGGCCAACATTGCGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCAGGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGGCGACAAAGCGAGACTCTGTCTCCAAAAAAAAAAAGGTAATGTGACCTGAACTTAGGGACTGGGCTGGGCTTACAGGTGCCTCAATTTCCATGATGAGCCCAGTCAAGATGGAGGAAGGGAGGGGGAGAAAGTTGTTGGTAGCTGGGGATGAGATTTGAGTCTGTTGCTGTCACCAGGGCAAGGAGGAGGAGGAGGTGGATAGGGAAGTAGAAGAGGAAGGCTATGACCAGAACTACCGTGGAGAAAGTATTGGAAGTATGAGGGGACGGTGTGTGCTGAGTTTTGAAATGACCTTGGTTTTCATGGGAACAGCGGGCAGCAAGGTTTTGGAGAGACTTATGATGAAAGAGAAAGTCTTTATAGGAGACAGTCCTTGGTAAGGGGCCTGTTTATGTTGAGAGAGCTACATTTGGGATTCCTGGATTCATGTCTTTTTTGTGGGGTGGGGATGCCTAGTCTTCTGCTTGTAGTCTGGGGGTAATGTTCTATGCTCCTGGGTTCCAGCTTCCTATA
|
TGTTCATGGAATCCAGTGTCCTCTTCAGGGCCGGGGTGGGGGCCTCCAGCAGTTCCACCTGGGTCCTCACGCCCTGCTCCGTGTACGGCCCCACCAGGAAGTAGTTGTCGCCCCATTCGTCCCCTGTCACCTTCGCCTTCGTCTGCAGCACCGTGTAGATGCCACCCACTGTGGGCCCAAGCGTGTGAGGGCAGGCCCCGGCCGAGGTCCATAGTTCTGGGGCCTGGGGTGGGGTGGGCCGGGGATGTAGGGGGCACTCAGGCCCCAGACCTCTAGCTCAGGGGGAAGAGGGGACTGGGAGCCCATAGTTTGGAGTAGGGGTTGGAAGCTTGGATGAGGGGAACACGAGGGCTGGAGGGCAGTCCTCCTGGGTCTAAGGGAGAAGGGGGCTGGGGTCAGGACCCTGAAGGAGGAGGGGGCTCAGGCTAGACTTCTGGGTCTGAGAGAGAAGGGGCTGGGTGCCGGGACCCCTTGGTCTGAAGGAATTAGGCACTGGGGCTCTAAGGATGGCAGAGCTGAGGACTGACTACCCGGACTCAGGTTCCCGAGTTCCCAGCTCACAGGAGCTGGGTTTAAATCGCAGCCAGGCTCCAAAACCCAGTGAGGGAGACCCCCTCATGGCCAATCCAGCTTCTCACCATTGCCCAAGAGAAGCCTGCATGGTCATTCCCTGCCCCCAGGGACCTTGCTGACCTGCCTCCCAATTTCCTCTCCCTGACTAGGGACACCAGCATGCAGGGCTCTGCCTCTCCCATGACCCTATCCCAGACCCAGGAGCCCCAGCCCCCAGCCTCCTCCCATCCTGGAGCCCAGGCCCTGGCGATACCCGGCTGGGTGTTCACGGGCCCCCTCTCCTCCTGGGAGACACAGTCCCTTTCTCCTCCAAGACCCAGCAAAGCAACCCCCCAGACCCTGCTCTTTGAGGTGTGAGATTGGCTTGTTCCTGGGGATTTCAGCCCCAGCCTTCTCCAAGGCCAGAACCTCAGCTTTCTGAAGCCCAAGACACAGAAATGCAGGCTCCTAGCCCCTCCCATCCTAGGGCCCAGCCTCTGACTAACTTAGGACTTCCCAGCCTTCCCCTATTCCAGTACGCATGTGTCCCAGGCCATGGGCTCCTCTACTCCTAGGAACTAATAGCTCAGGCCCTCAGCTCCTTCAAAGCCCAGGCATTCATTACAGTCTCCAGCCCGTCCCATCTTTATTCTTAAGCAGCCAGATCCTCAGGTCCTCCCACCGCCGCTCAGGCCTCCTATCTCCCAGTCAGCTCTCTCTCAAATCTGGAGTTTTATCCCCTAGACCATGCTGTTAGGGTCATAGGTCTGAAACCCCGGCAGCTTCCCAGGTTTGCACGCAGAAATCCCATCCCCCCATCCCCTTCCCTGTTCAGGACCCAGGTATCTAGTCTCTCGGAAGCCTGCCTCCAGGACCTAGGAGTCTCATTTTAGCGCCCTCTTCCCTAGGACCCAGAACCCGGGCTTCCAGCCTCCTTTCATCTTAAGTCAAACGAACCATCCCTCTCCCACCCACCTCCGGCTTCCCAGCCCCTCCTCAAGGACACAGCCTCCTTGCCCAGGTCACAAGGGTTCCCCTAGTAGCCCCGTCCTCCTACAACTCAGAGTTCCGGGCCCCCATCCACTACTGTCCTTCTCGTCAAGGGCCCCGACGCCTGGCGTGCTCACCCTTGTTAGCCACCTCCCAGGCCACTTCGAAGAGCACTGCGTTCTCCAGGTCGAATTCATCCTCCCAGTCCTCCAGTCCTGGCAGTGAGGACATGGACAAAGTGCGGTTTAAAGGCATGGCTGGCGCAGGAAGGGGGGCTCCGGGGATCTCCAGGTAGGGACCCCGGAGGTGTCTAGGGAATGCACCAGGTAGGGTGCGGGGCCGAGTAGCTGGTGCCCGACGGGAAGCTTGCAAGACGCTCGGCTTCCTATTGCAAGACCGCACCCCTGCCCCGAAGCGTTGGGACCTAGGCAGAAGGAGGCCGCAGCGTCACTGAGCCCACTGGCGCCCCTGCAGTGAAACCTCGCAGCCGCCAGGAGGCGGTGGCCGCCCCCCCAGCCAGCGCCATTGGCCCACGCCCGGGGGCGGGGATTTCCGCGTGTCCTCATTGGTGGAACGGGTTGGAGTCGCTGTGTCCCGGCCCCGCCTCGGCCGTGAGACCTCCAGGGGGCGGAGCTTGCCGCTGCGCTTTACGGAAACGAGTGGCCTTCAGCTCTGTCAATCTGGAGCTGGAGGCCTCAAAGTGGGGAGGAGGAGGAGGGTGGGATAAAGAGGAAAGGAGCGTGGAGGACGTGTGGTTACTCAAAGAACAGCTAAGAATTTTGCAATCGGCCTGAGCGGGGCGGTGGTGGGGCTGAGCAAAAGGAGGAGGAGCCAGGAGACATTGGGAATGGACCCAGGAGTTCCGGACGCCCGTCTTCCAGCGCAGCCTCGGTGGGAGGGCGGGGCATAAAGTCCCGCCACGCCCCCACAATATTTACATATTTATGAGGAACCATCGAGATCTTTGAAGAACCAGCTAGCCTAGAGGAGCCAGAACATCTCGCTCCTCGCGCGTTTCCGTTTCCGCTAGGACTCTGGCAGTTGGTGAGCATCATGGCAACCGTTGTAAGTGTGGGTGCATGGAGGGTGAGGAGCGAGCTAGCAGTCTCGAGTTTGAGAGAGGAGGATGCTGGAGGCCCTGACTCCTGGGTCTGAGGGAGGGGGGATCTGGGGGTTCAGACTCCTGGGTCTGAAAGAGGAGGAAGCTCGGCCACCCAGATCTGGGGGAGAAGGGGACATGGGGGCTGGACTTCTGGATCTGAGGCGGGGAGGGGGCTGGGATCCCAGAATCTCGGGTCTGGCCCCATCATGCTATAGGAACTCCAACTTTCAAAATCATCTTGGCGCAACGGCCGGTTCCGCAGTCCTTGGCGCCAGTGTGTGATGAGGAGGGTTGTAGGACCTTGCGCTTCGAGCCATTTGGGAGCCTTGGATTGTTAGTGGTGCCAATGGCACTTGAGTTCCAAGCTGGAAGCACAGGCAGGTACCTGTTCAGTGTGTCTGAGAGCGCGAGGGCGCCTAGTGAGCCTTTAGTGGGAAGAAATTGTCGAGGAACAAGAGAGTCTTAGTGGAGAGGACTGAAGGATTAGGGACCCAGAAATCGGGATCTTGTCATGCTACCGTTTTGGCCATTTTCATATTTCCAGTATTTCACACGGGCTACGTCTCAGTGTAAATGCTCAATAAATTATCACTTGAATATTTGAATGAATGAATACATGTGAATGAAGGAGAGGCCAGGAAACTTGGCCTGGCACCTGCTCAATTACCTGAATAAAGAAGCGATTTTGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTCAGGTCAGGAGTTCGTGGCCAACATTGCGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCAGGCCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGCGCCACTGCATTCCAGCCTGGGCGACAAAGCGAGACTCTGTCTCCAAAAAAAAAAAGGTAATGTGACCTGAACTTAGGGACTGGGCTGGGCTTACAGGTGCCTCAATTTCCATGATGAGCCCAGTCAAGATGGAGGAAGGGAGGGGGAGAAAGTTGTTGGTAGCTGGGGATGAGATTTGAGTCTGTTGCTGTCACCAGGGCAAGGAGGAGGAGGAGGTGGATAGGGAAGTAGAAGAGGAAGGCTATGACCAGAACTACCGTGGAGAAAGTATTGGAAGTATGAGGGGACGGTGTGTGCTGAGTTTTGAAATGACCTTGGTTTTCATGGGAACAGCGGGCAGCAAGGTTTTGGAGAGACTTATGATGAAAGAGAAAGTCTTTATAGGAGACAGTCCTTGGTAAGGGGCCTGTTTATGTTGAGAGAGCTACATTTGGGATTCCTGGATTCATGTCTTTTTTGTGGGGTGGGGATGCCTAGTCTTCTGCTTGTAGTCTGGGGGTAATGTTCTATGCTCCTGGGTTCCAGCTTCCTATAN
|
benign
| 307,533 |
Assess the variant on chromosome 19, position 49016528, impacting LHB (luteinizing hormone subunit beta): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
benign
|
TCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGAGGCCTCGGTTTTAGGTCCAGCCCAGCCCCTGTCTCCGTGGCTCTTCTAGCCTCAGCATTCTATGGTTCTAAGATGCAGGCGCCACATATTCCCAGTGGGGAAGGGCCAGAGGGTTGCTGTGGCCACTTCTGCTGCAGTCAGAGGCTGGGCCCCGGCTGAGCCACCCCTGTCCCCCACTGCTTGCAGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGTCAGCCGGCCGAATTAGCCAGCAGGGCCAGATGGCGGCAGTGAGTGACACAGTACTTCAGGGGCTTCCAGGGTTCCGATTTCATCCTAGAATGTACGTTTTCAGACGCAGGGAATTTTCATCCCTCAGGTTGGCTTCTGTATCATCCAGCCTGGCCTATAGTAGGTATCAGTAAATCTCTCTTGACTTAAGTAGATGCTGTTAGGTCCACCTTACAGATAAAGAAACTGAGGAATGAAGAGGCTGGGCCCACAACAAGGAGATGGCCAGGCAGGATTTGAACCCAGGCAATCTGGCCCAGAATGCCCTCCCCTCACATGCCACACTCTGCTGCCTAGAGCATGGAGGTGGCATACGCTGGGGTCTGTGCCTTGAGCCTCACGGAGAGGGGCCCAACTGAGGACTCGCCCTCCCCCTCCAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAGTAAGAATCCCCACCCCGCACCTGCACTGCCAGAGCCAACCTCAGAGGGAGGAAGAGGGAGCTCGGCGTAGAAGGCTCAGGCCCTGCCACCTGGGCGACACTGACCATGTGGCCTTCCTTCTCCCCACAGAAGGCGAGACCATGGACACCTCCTGAGTTGGATGTCATCCCCCGACCCCACCCTGTTTTCCACCAGAGTTCTGACACTGTGACTCTGTATAAAATGGTTGGGAAGCTGCACCCACCCTGTGTATGTGTGGTTGCCCTGAGCCCACAGAAAGACACCTCCAGAGTGCGGATTGAGAAGCCTTTATTGTGGGAGGATCGGGGTGTCAGGGCTCCAGGAGTCGGGATGGACTTGGAAGGCTGCGGGGAGGGTCTTTAGAGGAAGAGGAGGCCTGAGAGTTGGGGGTGGTCACAGGTCAAGGGGTGGTCTTTGGGACCCCCACAGTCAGAGGTGCTGCGGCGGCAGGGTCCACAGCGACAGCTGAGAGCCACAGGGAAGGAGACCACGGGGTCCACACCACGCGGGCAGCCAGGGAGCCGGATGGACTCGAAGCGCACATCACGGTAGGTGCACACCACCTGAGGCAGGGGCGGCAGGACCGCCTGCAGCACGCGCATCTGGAGGCCGTGTGAGTGGGGGAATGAGCATGTGCCTGAGGCCAGCGCCTCAGCTGAGCTCCCAAGCTGACCCCACAGGTCCTGGACTCAGGAGCCCAGGAAGCCCTCTGTTCCTGCCTTCCCACACCCCATTCCCCAACCGCAGGCCAGAGAGGCAGACCACCCTTCCTCCCCCGCTGCCTCTGTGGGTCTGGCCCTGAGGTGGCAGCATCTGCCCCTGGCCCCAGGCAGCTCACCATGGTGGGGCAGTAGCCGGCACAGATGGTGGTGTTGACGGTGATGCACACTGGGCAGCCCTCCTTCTCGACAGCCAGGATGGCATTGATGGGGTGGCACCATGGCCGAAGCGGCTCCCTGGATGCCCATGCCCCGCCCATGCTCAGCAGCAGCAACAGCAGCAGCCCCTGGGACAAGGACACTGCTTCACCCAGGTCTGAGACCGCAGCCCCGAGTCCTGGCCTTCCCATCCCGCGTGGTACACCACCCACAAAGACCCAGAGACCCTTCCCGGCATCTCCTATTCAGGACCCACCACCCGGACACCTGCCTTTCAGAGCCCACCCCACAGCCCAGAGGACCTGAGATGCCCCAACATTTCAGATCCCCACCCTCAGGAACTGCCCCACCTGAAGCTTACTGGGGGTCATGCCCCTCCAGAAAGAGGCCTCCTTCCACAGCTCACACGGGTCTGCCCCTTCTCATGCCAGTGATGGCCTGGAAGGAGGTGGAAGGTGCCCAGGGGCCCTGTAGTCTTACCTGGAGCATCTCCATCCTTGGTGCATCCCCTGCCTCGTGTATCTGGCTATATACCTCGGGGTTGTGGGGGCGGCAAGGCCACCAGGAGGTGATAGGATGCTGGGGTAACCTGGACACTAATCCCCCCGGGGGCGAGAGGTGCACATGGCCAGGGAGGCGCAGGAGTGGCTCAGCAGAGCGCCCCAGCCCTCTCCCCTCAGTGGTCTAGCGCCAGAGGTGAGGCAGAGACCACGGTGAAGTGACCTCAGAGACCCAGTTGTCGAGTGCTAGGGACTAGTCGAGCCTGGAGGCACAGGGAGTAGGGTGTAGGAAGGCCTGCCTCTGCCAATTGTGGGGTCTTGGGAGCCAGGAGGAGGCCATGACCCGAGAAAGGTGCTGGACTGAAGCCTCAACCCTCCACTTGAGGCTTTCCTGCACCACAGTCCAACCTAACAGGAGGGGCGCTGCTTCGGACTTAGCTTCTGCCCAGTGAGAGAGGGTCTCCCCGTGACTGTGCTGCCAGGGAAGCCACTTGACCCAGATGCCCCCAAGGAGGGATTAAGCCCGAGCCCCACCTCTCCCTTAGGGACCTCCGCCCACCCTACCCTCAAGCCAGGATGCCCGGAGCGTCCCCGGAAGTGGGTGTGGTTCAGGTGATTTAACTCATTATTTAATACGCCCGCAGGGTGCGTGTCTTGCCCCCGGGGCCACAGCCTGCAAGGACATTATCTGGACTTAGTCCCCTCTCCGTGATGCCGCAGCTGAGTGGGTGTCTGGGCTAGTCCCGCCCCCACGTTGCCAATAGACGTAATGAGTGCGACTCAGGCTGGGTCCGGAACCCTTCCTAGTGAGCGGAGGTCCCGAGCTCCGCTCGGCAGCGCGGCCCTGGGGGCGGGTCTGGGGTGGGGCTGGCCCTGACGGCTCACACCAGCGCCGGCTTCAAGCTGCCATAGCTGGAGTTCTCGGTACTGTAGGCTTTCGGCACGCTGTAGATGCCCCGCAGGGGCTTCCAGTGCGGGCCGCCCCAGGGCGCCTCCAGCGGGCAGAAGCGGTCGAGCCGCCGGAGCGGGTGCAGCAGGGGGCTGTAGGACTCCTGAGCCAGAGACAGGGCTCCCCGGTGCGGCATGGCCGAGGTCACCGGGCTGACGCGCGGCACGCGGACCCGCGGTGGTCGGGGCGGCCGGGAGGAGCGCGGACAGGGCGGCCGCTGCGGGCCGTGGCTCCAGACCTGGGGCGTCTCTTCGAAGCTCCAGTAGGTCAGGGAGTCCTTGCGGGGGTATCCGGACAGCTCCGTCCTGTGGGAGCAGGGCGGGATGGTGAGGATACAGCTGGATCCTTGGGGACGAGTTTCAGACCTCGGGATCTAAGGAGTCTGCACATTCAAACTCCTGCATTTCCAGGCGAGCACCCCTTAGGAAGGACGCGACCCGGCACGCGTTGCCTGCGTTCCTGGGTCCTCGAGGTACTTAACGTCCTGGAAACTGAGCTTTCGCATCCTAGGGAAGTAAAAGGGGACTTTCGCTTCCTTGG
|
TCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGAGGCCTCGGTTTTAGGTCCAGCCCAGCCCCTGTCTCCGTGGCTCTTCTAGCCTCAGCATTCTATGGTTCTAAGATGCAGGCGCCACATATTCCCAGTGGGGAAGGGCCAGAGGGTTGCTGTGGCCACTTCTGCTGCAGTCAGAGGCTGGGCCCCGGCTGAGCCACCCCTGTCCCCCACTGCTTGCAGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGTCAGCCGGCCGAATTAGCCAGCAGGGCCAGATGGCGGCAGTGAGTGACACAGTACTTCAGGGGCTTCCAGGGTTCCGATTTCATCCTAGAATGTACGTTTTCAGACGCAGGGAATTTTCATCCCTCAGGTTGGCTTCTGTATCATCCAGCCTGGCCTATAGTAGGTATCAGTAAATCTCTCTTGACTTAAGTAGATGCTGTTAGGTCCACCTTACAGATAAAGAAACTGAGGAATGAAGAGGCTGGGCCCACAACAAGGAGATGGCCAGGCAGGATTTGAACCCAGGCAATCTGGCCCAGAATGCCCTCCCCTCACATGCCACACTCTGCTGCCTAGAGCATGGAGGTGGCATACGCTGGGGTCTGTGCCTTGAGCCTCACGGAGAGGGGCCCAACTGAGGACTCGCCCTCCCCCTCCAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAGTAAGAATCCCCACCCCGCACCTGCACTGCCAGAGCCAACCTCAGAGGGAGGAAGAGGGAGCTCGGCGTAGAAGGCTCAGGCCCTGCCACCTGGGCGACACTGACCATGTGGCCTTCCTTCTCCCCACAGAAGGCGAGACCATGGACACCTCCTGAGTTGGATGTCATCCCCCGACCCCACCCTGTTTTCCACCAGAGTTCTGACACTGTGACTCTGTATAAAATGGTTGGGAAGCTGCACCCACCCTGTGTATGTGTGGTTGCCCTGAGCCCACAGAAAGACACCTCCAGAGTGCGGATTGAGAAGCCTTTATTGTGGGAGGATCGGGGTGTCAGGGCTCCAGGAGTCGGGATGGACTTGGAAGGCTGCGGGGAGGGTCTTTAGAGGAAGAGGAGGCCTGAGAGTTGGGGGTGGTCACAGGTCAAGGGGTGGTCTTTGGGACCCCCACAGTCAGAGGTGCTGCGGCGGCAGGGTCCACAGCGACAGCTGAGAGCCACAGGGAAGGAGACCACGGGGTCCACACCACGCGGGCAGCCAGGGAGCCGGATGGACTCGAAGCGCACATCACGGTAGGTGCACACCACCTGAGGCAGGGGCGGCAGGACCGCCTGCAGCACGCGCATCTGGAGGCCGTGTGAGTGGGGGAATGAGCATGTGCCTGAGGCCAGCGCCTCAGCTGAGCTCCCAAGCTGACCCCACAGGTCCTGGACTCAGGAGCCCAGGAAGCCCTCTGTTCCTGCCTTCCCACACCCCATTCCCCAACCGCAGGCCAGAGAGGCAGACCACCCTTCCTCCCCCGCTGCCTCTGTGGGTCTGGCCCTGAGGTGGCAGCATCTGCCCCGGCCCCAGGCAGCTCACCATGGTGGGGCAGTAGCCGGCACAGATGGTGGTGTTGACGGTGATGCACACTGGGCAGCCCTCCTTCTCGACAGCCAGGATGGCATTGATGGGGTGGCACCATGGCCGAAGCGGCTCCCTGGATGCCCATGCCCCGCCCATGCTCAGCAGCAGCAACAGCAGCAGCCCCTGGGACAAGGACACTGCTTCACCCAGGTCTGAGACCGCAGCCCCGAGTCCTGGCCTTCCCATCCCGCGTGGTACACCACCCACAAAGACCCAGAGACCCTTCCCGGCATCTCCTATTCAGGACCCACCACCCGGACACCTGCCTTTCAGAGCCCACCCCACAGCCCAGAGGACCTGAGATGCCCCAACATTTCAGATCCCCACCCTCAGGAACTGCCCCACCTGAAGCTTACTGGGGGTCATGCCCCTCCAGAAAGAGGCCTCCTTCCACAGCTCACACGGGTCTGCCCCTTCTCATGCCAGTGATGGCCTGGAAGGAGGTGGAAGGTGCCCAGGGGCCCTGTAGTCTTACCTGGAGCATCTCCATCCTTGGTGCATCCCCTGCCTCGTGTATCTGGCTATATACCTCGGGGTTGTGGGGGCGGCAAGGCCACCAGGAGGTGATAGGATGCTGGGGTAACCTGGACACTAATCCCCCCGGGGGCGAGAGGTGCACATGGCCAGGGAGGCGCAGGAGTGGCTCAGCAGAGCGCCCCAGCCCTCTCCCCTCAGTGGTCTAGCGCCAGAGGTGAGGCAGAGACCACGGTGAAGTGACCTCAGAGACCCAGTTGTCGAGTGCTAGGGACTAGTCGAGCCTGGAGGCACAGGGAGTAGGGTGTAGGAAGGCCTGCCTCTGCCAATTGTGGGGTCTTGGGAGCCAGGAGGAGGCCATGACCCGAGAAAGGTGCTGGACTGAAGCCTCAACCCTCCACTTGAGGCTTTCCTGCACCACAGTCCAACCTAACAGGAGGGGCGCTGCTTCGGACTTAGCTTCTGCCCAGTGAGAGAGGGTCTCCCCGTGACTGTGCTGCCAGGGAAGCCACTTGACCCAGATGCCCCCAAGGAGGGATTAAGCCCGAGCCCCACCTCTCCCTTAGGGACCTCCGCCCACCCTACCCTCAAGCCAGGATGCCCGGAGCGTCCCCGGAAGTGGGTGTGGTTCAGGTGATTTAACTCATTATTTAATACGCCCGCAGGGTGCGTGTCTTGCCCCCGGGGCCACAGCCTGCAAGGACATTATCTGGACTTAGTCCCCTCTCCGTGATGCCGCAGCTGAGTGGGTGTCTGGGCTAGTCCCGCCCCCACGTTGCCAATAGACGTAATGAGTGCGACTCAGGCTGGGTCCGGAACCCTTCCTAGTGAGCGGAGGTCCCGAGCTCCGCTCGGCAGCGCGGCCCTGGGGGCGGGTCTGGGGTGGGGCTGGCCCTGACGGCTCACACCAGCGCCGGCTTCAAGCTGCCATAGCTGGAGTTCTCGGTACTGTAGGCTTTCGGCACGCTGTAGATGCCCCGCAGGGGCTTCCAGTGCGGGCCGCCCCAGGGCGCCTCCAGCGGGCAGAAGCGGTCGAGCCGCCGGAGCGGGTGCAGCAGGGGGCTGTAGGACTCCTGAGCCAGAGACAGGGCTCCCCGGTGCGGCATGGCCGAGGTCACCGGGCTGACGCGCGGCACGCGGACCCGCGGTGGTCGGGGCGGCCGGGAGGAGCGCGGACAGGGCGGCCGCTGCGGGCCGTGGCTCCAGACCTGGGGCGTCTCTTCGAAGCTCCAGTAGGTCAGGGAGTCCTTGCGGGGGTATCCGGACAGCTCCGTCCTGTGGGAGCAGGGCGGGATGGTGAGGATACAGCTGGATCCTTGGGGACGAGTTTCAGACCTCGGGATCTAAGGAGTCTGCACATTCAAACTCCTGCATTTCCAGGCGAGCACCCCTTAGGAAGGACGCGACCCGGCACGCGTTGCCTGCGTTCCTGGGTCCTCGAGGTACTTAACGTCCTGGAAACTGAGCTTTCGCATCCTAGGGAAGTAAAAGGGGACTTTCGCTTCCTTGGN
|
benign
| 307,553 |
Considering the genetic mutation at chromosome 19, position 49171781, impacting TRPM4 (transient receptor potential cation channel subfamily M member 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
GTTTTTTGTAGAGACAGGGTTTTGCCATGCAGCCCAGGTGGCCTCAAACTCGTGGTCGAAAGTGGTCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGTCGTGAGCCACTGCGCCCAGCCAGCCAATATCTTATAATTTTATCAAAACATGAACAAGATACATTACTAGGTTTGAGGAAAGTTTTTGATTTTTGTGTATTTTTCTTGTATCAATCCTCTTACCAAATTTTCTTATTGATCTTTATTTTTATTTTTGGTGGGGTTTTCCAATTTTCTGGGAATACAAGCCATGTTTTCTTCAAATAGGTACTTTTGTCCCTTCCAGCTTTACAAAAAACCAAAAACCAAAAAATCAATTTTCACTTCAGTGATTTCATTTTTTTGCATTATTGAGTTAGCTCAAAACTCCAGGATGAATACAGTGTTAGTGGTAATGTGGTCTAGTTTCTAATTTATTTATTTATTTTTTTGAGAGGGAGTCCTGCTCTGTGCACAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACTTCTGCCTCCTAGGTTCAAGCGTTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACGAGCCACCACTCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTAGTTTCTAATTTTAATGGAAGTAGAGTCGATATAGTGCTATCTTTATGGTGCAATTGGATTTTGGTAAATATCTATATTGTGGTTAGATAGCCCTTTCTATTCCCATTTCCTTTACTTTCTATTTGAACTTTCACTCCCTCTGGCTCCTGGATGGTTAATCAATGACAGGATTGACTCATACAAGAAACACCTGCCTCATTCAGGGACTCAGGAGTCTAGGTCCTCAGCCCCCTCCTCCCTGGGGAAGTTAAGCATTACTGTCTTCAAAATCTAGCTCCCTCCTGAAGTGTCCAAAGACATGACAATTCTGGCCAGGCGCGCTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCCCTTGAGTCCAGGAATTCGAGACCAGCCTGGGCAAGATGGCAAGACCCCTGTCTCTACCAAAAATTAAAAAGTTAGCTGGGCACGGTGGTGTGTGCCTGTGGTCCCAGCTACTTAGAAGGCTAAAGTAGGAGGATCAAGATGTAGTGAGGTGTGATCATGCCCCTGCACTCTATCCTGGGCGATAGAGTGACACCCTGTTTCAGAAATTAGGCTGATGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGTCCAAGTTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGACCACCCTGGCCAACATAGCAAGACCCCCATTTCTAAAATAAATACATAATTAAGTAAAAAAAGAAATGACAATTCCAATGAGCCTCTGAACAGAAGATTAGGACAAGGCTGATGTTTGCCGACTCCTGGGAAATGCGGTTTTCTCCTATCTCCAGCAAAGGCTGATGGGAGGTAATCAAGCCCCCTTCTCTTCTTGCCTCAGGGACTGGAATTGACATCCCTGTCCTGCTCCTCCTGATTGATGGTGATGAGAAGATGTTGACGGTATAGGGGCCCGGATGCCCGGATCTAAGGGGGAAGGAGGGTTGGGGGCCAGGACTCCTGGGTCCTGAGTCTTAGGGAGGGTCTGGGGGTCTGACTCCGGGTAGGGTGAATATCCTGCCTTTTCTGACGTGATGAATAAAGAATGCCTTTATCCTGTAGCGAATAGAGAACGCCACCCAGGCTCAGCTCCCATGTCTCCTCGTGGCTGGCTCAGGGGGAGCTGCGGACTGCCTGGCGGAGACCCTGGAAGACACTCTGGCCCCAGGGAGTGGGGGAGCCAGGCAAGGCGAAGCCCGAGATCGAATCAGGCGTTTCTTTCCCAAAGGGGACCTTGAGGTCCTGCAGGCCCAGGTATGACACTGGGGGCCCAACTCTGGATCCTGAGATGGGAGGGAACTGGGGACTTGGGCTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTTCCAGGTTCCGGGAGAAGAGGGTGCTGGGCATATAGACTATTAGGTCCTGGAGGGGAATGGCCTCCTCCATCCCTTTGGACAGGGCCCAACAGGAGTTGGGGATGGAGGCGGGCTAGGGATGCAGAACTGGCTATTCCACAGGTGGAGAGGATTATGACCCGGAAGGAGCTCCTGACAGTCTATTCTTCTGAGGATGGGTCTGAGGAATTCGAGACCATAGTTTTGAAGGCCCTTGTGAAGGGTAAAAGTTGTACCCTCCAGTCTTCCCCCTCTCTCAGTTCAACCTTAGACACCTTTCCTGGCCTGGGCACTTCATCCACCCTCTCTAATCCAAGGCCCATGCCCCCTTTACCCCTCTTAATATTTTTCCCCTTTGGGGCTTTGCATGGTGCTATTTGGGCAGTTTTCCCAGATGCTTTCATTATGTTCCAGCATCTGCTTTCCTCTGTTGGATCCATCCATCCATTCTTTCATCTTTCCATCCATCCACATGTACAGATCGATCTTTCCATCTCTTTACCTACCATCCTTCCAGTCATCCCTCATTCTTTCATCCATCCATCCTTTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCAGTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCATGCATCCACTGACAATTCCTGAGAATGCCATCTGCTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCTACACATCCACCGAAAATTCCTGAGAATTCCATCCACTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATGCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATCCACTTATTGTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGAAAATTCCATTCACTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTTATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCATGCATCCACTGACAATTCCTGAGAATGCCATCTGCTCATTCTTCTATCCATCCATCTTCTCACCTGTCCATCTGCACATCCACTGAAAATTCCTGAGAATTCCATCTACTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTCATTCCTCCATCCACCCATCTTCCATCCATTTACCCATCTACCCATCCATCTTTTCATTCATCCATCCAACTGTTCTTCCATCTATCCATCCACCCACCCATTCTTCCTTCCCTACATGCTTCCAATATACATGAAGCACTCTGGCTAGACATGAACCAAAGCACTGTCTCCCAGTGAGGAAGTCCAGATATTTCACTAGAAATGGCAGCTTGGAGGACGGAATGATGAAAACCAAGGCGGGGGAGCATAATGCACACCTGGGAGAGGCTGGGGAGGGTCTTATTTATTTATTCACTTATTGAGACAGGGTCTTGCTCTGTAGGCCAAGCTGGAGTATAGTGGTGTGATCACGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCCCAGCCTTCCAAGTAGCTGGGAACATACCCGCCCACCACTACACCTGGTAAATTAA
|
GTTTTTTGTAGAGACAGGGTTTTGCCATGCAGCCCAGGTGGCCTCAAACTCGTGGTCGAAAGTGGTCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGTCGTGAGCCACTGCGCCCAGCCAGCCAATATCTTATAATTTTATCAAAACATGAACAAGATACATTACTAGGTTTGAGGAAAGTTTTTGATTTTTGTGTATTTTTCTTGTATCAATCCTCTTACCAAATTTTCTTATTGATCTTTATTTTTATTTTTGGTGGGGTTTTCCAATTTTCTGGGAATACAAGCCATGTTTTCTTCAAATAGGTACTTTTGTCCCTTCCAGCTTTACAAAAAACCAAAAACCAAAAAATCAATTTTCACTTCAGTGATTTCATTTTTTTGCATTATTGAGTTAGCTCAAAACTCCAGGATGAATACAGTGTTAGTGGTAATGTGGTCTAGTTTCTAATTTATTTATTTATTTTTTTGAGAGGGAGTCCTGCTCTGTGCACAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACTTCTGCCTCCTAGGTTCAAGCGTTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCACGAGCCACCACTCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTAGTTTCTAATTTTAATGGAAGTAGAGTCGATATAGTGCTATCTTTATGGTGCAATTGGATTTTGGTAAATATCTATATTGTGGTTAGATAGCCCTTTCTATTCCCATTTCCTTTACTTTCTATTTGAACTTTCACTCCCTCTGGCTCCTGGATGGTTAATCAATGACAGGATTGACTCATACAAGAAACACCTGCCTCATTCAGGGACTCAGGAGTCTAGGTCCTCAGCCCCCTCCTCCCTGGGGAAGTTAAGCATTACTGTCTTCAAAATCTAGCTCCCTCCTGAAGTGTCCAAAGACATGACAATTCTGGCCAGGCGCGCTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCCCTTGAGTCCAGGAATTCGAGACCAGCCTGGGCAAGATGGCAAGACCCCTGTCTCTACCAAAAATTAAAAAGTTAGCTGGGCACGGTGGTGTGTGCCTGTGGTCCCAGCTACTTAGAAGGCTAAAGTAGGAGGATCAAGATGTAGTGAGGTGTGATCATGCCCCTGCACTCTATCCTGGGCGATAGAGTGACACCCTGTTTCAGAAATTAGGCTGATGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGTCCAAGTTGGGAGGATTGCTTGAGGCCAGGAGTTCGAGACCACCCTGGCCAACATAGCAAGACCCCCATTTCTAAAATAAATACATAATTAAGTAAAAAAAGAAATGACAATTCCAATGAGCCTCTGAACAGAAGATTAGGACAAGGCTGATGTTTGCCGACTCCTGGGAAATGCGGTTTTCTCCTATCTCCAGCAAAGGCTGATGGGAGGTAATCAAGCCCCCTTCTCTTCTTGCCTCAGGGACTGGAATTGACATCCCTGTCCTGCTCCTCCTGATTGATGGTGATGAGAAGATGTTGACGGTATAGGGGCCCGGATGCCCGGATCTAAGGGGGAAGGAGGGTTGGGGGCCAGGACTCCTGGGTCCTGAGTCTTAGGGAGGGTCTGGGGGTCTGACTCCGGGTAGGGTGAATATCCTGCCTTTTCTGACGTGATGAATAAAGAATGCCTTTATCCTGTAGCGAATAGAGAACGCCACCCAGGCTCAGCTCCCATGTCTCCTCGTGGCTGGCTCAGGGGGAGCTGCGGACTGCCTGGCGGAGACCCTGGAAGACACTCTGGCCCCAGGGAGTGGGGGAGCCAGGCAAGGCGAAGCCCGAGATCGAATCAGGCGTTTCTTTCCCAAAGGGGACCTTGAGGTCCTGCAGGCCCAGGTATGACACTGGGGGCGGGCCCAACTCTGGATCCTGAGATGGGAGGGAACTGGGGACTTGGGCTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTTCCAGGTTCCGGGAGAAGAGGGTGCTGGGCATATAGACTATTAGGTCCTGGAGGGGAATGGCCTCCTCCATCCCTTTGGACAGGGCCCAACAGGAGTTGGGGATGGAGGCGGGCTAGGGATGCAGAACTGGCTATTCCACAGGTGGAGAGGATTATGACCCGGAAGGAGCTCCTGACAGTCTATTCTTCTGAGGATGGGTCTGAGGAATTCGAGACCATAGTTTTGAAGGCCCTTGTGAAGGGTAAAAGTTGTACCCTCCAGTCTTCCCCCTCTCTCAGTTCAACCTTAGACACCTTTCCTGGCCTGGGCACTTCATCCACCCTCTCTAATCCAAGGCCCATGCCCCCTTTACCCCTCTTAATATTTTTCCCCTTTGGGGCTTTGCATGGTGCTATTTGGGCAGTTTTCCCAGATGCTTTCATTATGTTCCAGCATCTGCTTTCCTCTGTTGGATCCATCCATCCATTCTTTCATCTTTCCATCCATCCACATGTACAGATCGATCTTTCCATCTCTTTACCTACCATCCTTCCAGTCATCCCTCATTCTTTCATCCATCCATCCTTTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCAGTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCATGCATCCACTGACAATTCCTGAGAATGCCATCTGCTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCTACACATCCACCGAAAATTCCTGAGAATTCCATCCACTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATGCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCGTCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATCCACTTATTGTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGAAAATTCCATTCACTCATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTTATTCTTCCATCCATCCATCTTCTCACCTGTCCATCCATGCATCCACTGACAATTCCTGAGAATGCCATCTGCTCATTCTTCTATCCATCCATCTTCTCACCTGTCCATCTGCACATCCACTGAAAATTCCTGAGAATTCCATCTACTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCTGAGAATTCCATCCGCTCATTCCTCCATCCATCCATCTTCTCACCTGTCCATCCACACATCCACTGACAATTCCATTCACTCATTCCTCCATCCACCCATCTTCCATCCATTTACCCATCTACCCATCCATCTTTTCATTCATCCATCCAACTGTTCTTCCATCTATCCATCCACCCACCCATTCTTCCTTCCCTACATGCTTCCAATATACATGAAGCACTCTGGCTAGACATGAACCAAAGCACTGTCTCCCAGTGAGGAAGTCCAGATATTTCACTAGAAATGGCAGCTTGGAGGACGGAATGATGAAAACCAAGGCGGGGGAGCATAATGCACACCTGGGAGAGGCTGGGGAGGGTCTTATTTATTTATTCACTTATTGAGACAGGGTCTTGCTCTGTAGGCCAAGCTGGAGTATAGTGGTGTGATCACGGCTCAGTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCCACCCCAGCCTTCCAAGTAGCTGGGAACATACCCGCCCACCACTACACCTGGTAAA
|
benign
| 307,666 |
Gene TRPM4 (transient receptor potential cation channel subfamily M member 4) variant at chromosome position 49196501 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
CAGGCTGGTCTCAAATTCGAAGGCTTAAGTGATCTTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATACACCACTGCGCTTGGCCTCACTTATTTCCTTCCTTCCTCCTTCCTTCCTTCTTTCCTTCCTTCCTTTCCTTTCCTTTTCTTTCCTTCCTTCCTTTCTTTCCTTCCCTTTCTTTCTCTCTCTCTTTCTCTCTCTGTCCCTCCCTCCCTTCCTTCCTTCTTTTCTTCCTTCCTTCCTCCCTCTCTTTTCTTTCTTTCTCTATCTCCTTCCCTCCCTCCCTCTCTCCCTCCCCCCAACCCTTCCTTCCTCCCTTCTGAGACAAGGTCTCACTCTGTTGCCTCCGCTGAAGTATAGTAGCTTGATCTTGGCTCACTGCAGCCTCAACCTCCCAGTGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTATAAACACACCTGGCTAATTTTTTTTTTTTTTTCTGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTGTTGAACTCCTGGGCTCAAGCAATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCTACCACGCCCAGCCTCACTTTTTTTTCTTTTTTTTTAAATGGCAGCTTTATTGAGCTGTAATCCACATATCATACCGTTCACTTACTTAAGGTATACAATTCAGTGCTTCTTGGTGTACTCACAGAATTGTGAAATCATTTCCACAATTCATTTTCAAATATTGTCATCACTCCAACAAGAAACTCTGTACATGCTTAGCACTGCTTTTCGTTTTCCCAGCCCTAGGCCACCATTCATGTACCTGCTGTCTCTGGGTTTGCCTGTTTTGCACACTTCACATAAGTGGAGCCATGCACTCTATGGTCTTTTCTTCTTCTTCTTCTTTATTTTTTTATTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTCAATGGCGCGACCTCAGTTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCATCAGCCTGTCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGCTGATCTGCCTGCCTCGGCCTCCCCAAATGCTGGGATTACAAGCGTGAGCTAGCGCGCCCAGCCCGTTTCTACTTTAATTTTTTTTTTTTTTTTTTTAGACAGGGTCTCGCTCTATTGCCCAAGCTGGAGTGCAGTGGCATGTTCATGGCTGACTGCAGCCTGGGCCTCCTGTACTCAAGTGATCCTCCCATTTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCTTGCCCCTACTACTGGCTAAATTTTTATTTTTATTTATTTTATTATTATTATTATTATTATTTTTGAGACAGAGTCTCACTCTGTCGCCTAGGCTGCAGTGCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTATGTGGGACTACTGGCATGCGCCACCAGACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCCGCCTTAACTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGCCCGATCCGGGTATATTTTTAAAATATTTTTTGTAGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCCAACTCCTCGGCTCAAGCGATCAATCCACCTCTTGACCGGAGATTTCAGAGGTCAGAGGTTAGATACAAGAGTCAAAACCCAAGAAATTAGCTCTGGGCAGACTGAGTTTCGGGTCAGGCAGGGTGAGATGTGCCAAGCCAAAAGTCTCGATGATGGTGGAGATCAGGACTCAGAGGTCAGAGTGAGGCCTCCTCCCTTCTCTTCTCTTCCCCCACAGGACGGCGGACCCAGCCGAGAAGACGCCGCTGGGGGTCCCGCGCCAGTCGGGCCGTCCGGGTTGCTGCGGGGGCCGCTGCGGGGGGCGCCGGTGCCTACGCCGCTGGTTCCACTTCTGGGGCGCGCCGGTGACCATCTTCATGGGCAACGTGGTCAGCTACCTGCTGTTCCTGCTGCTTTTCTCGCGGGTGCTGCTCGTGGATTTCCAGCCGGCGCCGCCCGGCTCCCTGGAGCTGCTGCTCTATTTCTGGGCTTTCACGCTGCTGTGCGAGGAACTGCGCCAGGGCCTGAGCGGAGGCGGGGGCAGCCTCGCCAGCGGGGGCCCCGGGCCTGGCCATGCCTCACTGAGCCAGCGCCTGCGCCTCTACCTCGCCGACAGCTGGAACCAGTGCGACCTAGTGGCTCTCACCTGCTTCCTCCTGGGCGTGGGCTGCCGGTGAGTGCCCCGGGGCCTTGGAACCCTGGCCCCTGGCCACCTCTCATCCTTCCTGCCCACTCCCGGGGTCTCCACTCCCGGCTTCCCCGCAGCTGGGCAGCAGGTCAAGCCAACCCTGCTGATTGAGAACCCCTCTTAGGAAAGTCGGGCATGACGATTGCCCCAGGGTAATTGGCTGGCACCTGGAGATCTGGCTTCAGGGACGGCAGGATTCAGGAGAAAACCCCACTGTCCGCCACTCAGCCTCTGCTGCTATTTATTGCTAGGCCTGAAGTTTAACAGATATTTATGGGAGCGCCCCGACCTGGGTGCCAACCTCACCTCCTCCCTTCTCTTCCTCCACATAGCTCGTTGGTCCCAGGCCCCTTGCCCTCCTGCCCCCGACTTTTTCTTTCTTTCCTTTTTTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTTTTCTTTCTTTCTCTTTTCTTTTCCTTTCTTTTCTTTTTCTTTTTCTCTTTTCTTTCTCTCTCTCTCCCTCTGTCCTCTGCCCCTCTGCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTATGCTTCCTTCCATCCCTCCAAGCTAAGGGTTTAACCCTTGCCCTGCCTGCATTATGGAGTATCCTGCATTAGGATACTCCTCCTTTTGAGGAGAGCAAACAGAAAAGTTTGTGGATACAACCTGGTGACTGGTTTTTTGTTTGTTTGTTTGTTTTTGTTTTCTTTCTTTTCTTTTTTTTTTTTGAGCCAGAGTTCCGCTGTGTCGCCCAGACTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCGTGAGTAGCTGGGATTACAGGCATGCACCACTACACCTAGCTAAATTTTTTTTGTATTTTTTTTGTAGAGATGGGGCTTTGCCATATTGACCAGGCTGGTCTTGAACTCTTGGCCTCAAGTGATCCACTGGCCTTAGCCTCTGAAAGTGCTGAGATTACAGATGTGGGTCACCGTGCCTGGCCAACAACCTGGTGACTGTTTACAAGGGACCTGACACATCCTGAATGGTTGACAGTGATGACAGTGATGATCCCTACTCAAGCTTTTCCCAGTAGACACGCTGAGAGGCAGGCTTCCTCTAAGCTATGTTAGCAGTGTTACAAAGTGATTCAACATAAATAATTTATTCAAGCAGGGAGCAAGATATGAGAGTTTTGCAGAACACTAATACTTCTGTTTGTAATTTGTTGTATTTTGTATAAAGTGACTTTTGAGATGAAAGGGCTAAGGCCATATGCTACCATGCTCTAGGATTGCCAGTGATATTTTGGACAGTTTATCAAGCCTACCACTTTCCAGGTGAAAAATGGAAAGATCTCAGCTTAAAAGGGAGAAACGGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCT
|
CAGGCTGGTCTCAAATTCGAAGGCTTAAGTGATCTTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATACACCACTGCGCTTGGCCTCACTTATTTCCTTCCTTCCTCCTTCCTTCCTTCTTTCCTTCCTTCCTTTCCTTTCCTTTTCTTTCCTTCCTTCCTTTCTTTCCTTCCCTTTCTTTCTCTCTCTCTTTCTCTCTCTGTCCCTCCCTCCCTTCCTTCCTTCTTTTCTTCCTTCCTTCCTCCCTCTCTTTTCTTTCTTTCTCTATCTCCTTCCCTCCCTCCCTCTCTCCCTCCCCCCAACCCTTCCTTCCTCCCTTCTGAGACAAGGTCTCACTCTGTTGCCTCCGCTGAAGTATAGTAGCTTGATCTTGGCTCACTGCAGCCTCAACCTCCCAGTGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTATAAACACACCTGGCTAATTTTTTTTTTTTTTTCTGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTGTTGAACTCCTGGGCTCAAGCAATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCTTGAGCTACCACGCCCAGCCTCACTTTTTTTTCTTTTTTTTTAAATGGCAGCTTTATTGAGCTGTAATCCACATATCATACCGTTCACTTACTTAAGGTATACAATTCAGTGCTTCTTGGTGTACTCACAGAATTGTGAAATCATTTCCACAATTCATTTTCAAATATTGTCATCACTCCAACAAGAAACTCTGTACATGCTTAGCACTGCTTTTCGTTTTCCCAGCCCTAGGCCACCATTCATGTACCTGCTGTCTCTGGGTTTGCCTGTTTTGCACACTTCACATAAGTGGAGCCATGCACTCTATGGTCTTTTCTTCTTCTTCTTCTTTATTTTTTTATTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGAGTCAATGGCGCGACCTCAGTTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCATCAGCCTGTCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCAGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGCTGATCTGCCTGCCTCGGCCTCCCCAAATGCTGGGATTACAAGCGTGAGCTAGCGCGCCCAGCCCGTTTCTACTTTAATTTTTTTTTTTTTTTTTTTAGACAGGGTCTCGCTCTATTGCCCAAGCTGGAGTGCAGTGGCATGTTCATGGCTGACTGCAGCCTGGGCCTCCTGTACTCAAGTGATCCTCCCATTTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCTTGCCCCTACTACTGGCTAAATTTTTATTTTTATTTATTTTATTATTATTATTATTATTATTTTTGAGACAGAGTCTCACTCTGTCGCCTAGGCTGCAGTGCATTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTATGTGGGACTACTGGCATGCGCCACCAGACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCTACCTCAGGTGATCTGCCCGCCTTAACTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGCCCGATCCGGGTATATTTTTAAAATATTTTTTGTAGAGATGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCCAACTCCTCGGCTCAAGCGATCAATCCACCTCTTGACCGGAGATTTCAGAGGTCAGAGGTTAGATACAAGAGTCAAAACCCAAGAAATTAGCTCTGGGCAGACTGAGTTTCGGGTCAGGCAGGGTGAGATGTGCCAAGCCAAAAGTCTCGATGATGGTGGAGATCAGGACTCAGAGGTCAGAGTGAGGCCTCCTCCCTTCTCTTCTCTTCCCCCACAGGACGGCGGACCCAGCCGAGAAGACGCCGCTGGGGGTCCCGCGCCAGTCGGGCCGTCCGGGTTGCTGCGGGGGGCGCCGGTGCCTACGCCGCTGGTTCCACTTCTGGGGCGCGCCGGTGACCATCTTCATGGGCAACGTGGTCAGCTACCTGCTGTTCCTGCTGCTTTTCTCGCGGGTGCTGCTCGTGGATTTCCAGCCGGCGCCGCCCGGCTCCCTGGAGCTGCTGCTCTATTTCTGGGCTTTCACGCTGCTGTGCGAGGAACTGCGCCAGGGCCTGAGCGGAGGCGGGGGCAGCCTCGCCAGCGGGGGCCCCGGGCCTGGCCATGCCTCACTGAGCCAGCGCCTGCGCCTCTACCTCGCCGACAGCTGGAACCAGTGCGACCTAGTGGCTCTCACCTGCTTCCTCCTGGGCGTGGGCTGCCGGTGAGTGCCCCGGGGCCTTGGAACCCTGGCCCCTGGCCACCTCTCATCCTTCCTGCCCACTCCCGGGGTCTCCACTCCCGGCTTCCCCGCAGCTGGGCAGCAGGTCAAGCCAACCCTGCTGATTGAGAACCCCTCTTAGGAAAGTCGGGCATGACGATTGCCCCAGGGTAATTGGCTGGCACCTGGAGATCTGGCTTCAGGGACGGCAGGATTCAGGAGAAAACCCCACTGTCCGCCACTCAGCCTCTGCTGCTATTTATTGCTAGGCCTGAAGTTTAACAGATATTTATGGGAGCGCCCCGACCTGGGTGCCAACCTCACCTCCTCCCTTCTCTTCCTCCACATAGCTCGTTGGTCCCAGGCCCCTTGCCCTCCTGCCCCCGACTTTTTCTTTCTTTCCTTTTTTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTTTTCTTTCTTTCTCTTTTCTTTTCCTTTCTTTTCTTTTTCTTTTTCTCTTTTCTTTCTCTCTCTCTCCCTCTGTCCTCTGCCCCTCTGCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTATGCTTCCTTCCATCCCTCCAAGCTAAGGGTTTAACCCTTGCCCTGCCTGCATTATGGAGTATCCTGCATTAGGATACTCCTCCTTTTGAGGAGAGCAAACAGAAAAGTTTGTGGATACAACCTGGTGACTGGTTTTTTGTTTGTTTGTTTGTTTTTGTTTTCTTTCTTTTCTTTTTTTTTTTTGAGCCAGAGTTCCGCTGTGTCGCCCAGACTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCGTGAGTAGCTGGGATTACAGGCATGCACCACTACACCTAGCTAAATTTTTTTTGTATTTTTTTTGTAGAGATGGGGCTTTGCCATATTGACCAGGCTGGTCTTGAACTCTTGGCCTCAAGTGATCCACTGGCCTTAGCCTCTGAAAGTGCTGAGATTACAGATGTGGGTCACCGTGCCTGGCCAACAACCTGGTGACTGTTTACAAGGGACCTGACACATCCTGAATGGTTGACAGTGATGACAGTGATGATCCCTACTCAAGCTTTTCCCAGTAGACACGCTGAGAGGCAGGCTTCCTCTAAGCTATGTTAGCAGTGTTACAAAGTGATTCAACATAAATAATTTATTCAAGCAGGGAGCAAGATATGAGAGTTTTGCAGAACACTAATACTTCTGTTTGTAATTTGTTGTATTTTGTATAAAGTGACTTTTGAGATGAAAGGGCTAAGGCCATATGCTACCATGCTCTAGGATTGCCAGTGATATTTTGGACAGTTTATCAAGCCTACCACTTTCCAGGTGAAAAATGGAAAGATCTCAGCTTAAAAGGGAGAAACGGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTNNNNNNNNNNNN
|
benign
| 307,731 |
A genetic alteration at chromosome 19, position 49200439, in gene TRPM4 (transient receptor potential cation channel subfamily M member 4)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAAAAGGGAGAAATGTCTAATCATCTCCGGAATTGAATGGATGAATCATCCTTTGTTTCGCCAGTTCCCTCTAGATGGACATTTAGGTTCTCTCTTTCTTTCTTTTTTTGTTTTAAATAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTCTCAAACTCCAGGGCTCAAGCAATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACTATGCTCAGCCTTCTGTTTTTTTATTATTCCAAAATAATAAAAGTTTACATCCCAGATGTAAAGTTTATGGGTCAAAGGGTACATTTATTTTTGACATGGATAGATTTCCTTCTAAGTAGCTTCACTCATTTCCACACCTGCCATCAGGGTAAGAGAGTGCCCCCTTGAGGCCATGCTCGACAATGCCTGATACTTTCACTCTAAAATGTAGCTCTCAATTTAACTGAAAAAAAATTTGCCAATTTAATGGGTAAACATGACCTCTCCTTGTTATAATTTATGCACTCTTGACTACCAGATAGGTTGGACATCTTTTCCTAAGCTTAATGGCCATATGTCCTTGTGCCCCCTTGTTTTTTTTTTGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGTGCCTGCCTCCACGCCCGGCTAATTTTTTGTATTTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGTTCTCGATCTCCTGACCCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGACCGGCCACCCTCCCGTTTTTTTAATTGGGGTTCATTGATTTGTATATGTATAAATGTATATACTCCTTATACTCTGGATCCTAATCCTCGGTAGTTTTGTTGGTCTTAATATCTTCATATCTTCTCGAAGTCTGTGGCTTGTCTTTTCACTTTCACTTTTGTATGTTTCTTTTCTTTTCTTTTTTTTGAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCTGTCCATACACTAGGTTTTTAATCCATCCAAAGTTTAAGTACATGAGGATGCAAAATAGGGGTAGAATTTTTATTTTCCCCATAGGAATTATTGATGTTTACTGGCCGTTTGAACGTCCTCTGTGAATTGTACGTGGTATCCTTTATCTGGCTTCCTTCCTTTTGCGTATTAGTTTGTAAGGACTCTATATGTTTTGCCTTTTATAGGTTGGACAGATATTCCGGCAGTTTTTCCAGCTTGATTCTTACAGGGACCAGCTCTTTGCTAAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATCGTCATCGTGAGCAAGATGGTGAGGCAGGGGCGGGGCCAAAGTGGGCGGGGACATAGGGAAAGGGGTGGGGCCAGGGAGGGAGTGGTCCGTGGAGAAGGGGCGTGACTTTGGGGAGCAATGGGGCGTGTTTTTGGGATATAGGGGTGGGGCCAGAGTAGGAAAGGGCGGGGCCAGACTCAGCCACATCTCCCCACAGATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGGCTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCAAGTATCCTGCGCCGCGTCTTCTACCGTCCCTACCTGCAGATCTTCGGGCAGATTCCCCAGGAGGACATGGACGGTAGGGGGGATGACGGCCTGACAGCCTTCCTCTGAGTCTCTGTCCCCGCTCCCTGGGTCTCTGTCCTCCTGGCTCTAAGAAAATATCTGTCTCTCTGAGTCTCTGTCTCCCTCTTTCTCTGGATCTCTGAGTGATACCCTATATTCCCCATCATCATCTCTCTGGGTCTCTGCCTACCCCACCCCCTCTGTCTTTCTGTCTGTCTTTCTTTTTTCTTTTTTTTTTTCTTTTTTTTTGAGATGGATGTTAGAAATGTTTATTTTGTGGTGTCGTAAAGAAATAGTACTTGAACATAAATTTAATTTTTTTAGTAAAGCCATTTTTATTTTTTGTAGAAAGGGTACACTCGCCAGCAGTTTTGTCATGAGAGTACACGGAACAAAGGAGATAGGGTCATTTATAACCTGACGCGTCTATTTTACTGCTGTGTCTGGTTTTTATTGGCTGGAACCGGACTTTACATTTTGTATTTGTCTTGATTGGCTAGTAACTTAGAAGTTTTTAAAAGAAGCGAAGGCAGAGGAGAACAAAGGAAGGAGGAAGTAACTTGTGGAATGTTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTATGATCTAATGCTTGCTTGAACCAGTATAAGTATGTCAGGGCAAATATTTAGGCTAAATTGTGAGAGCTAAGAACATAAAGTACATTGATTTATTTTTTATGGCTAGTAGATATTTAAGAATGTTAGCACAGGTGTTTGAATAAATTTTGTTTCTAAGAGAAGTTACTATTTATTGTTAATTAGATGGGGAGGAAAGTCTTTGAAGAGGAACCTGTACTTTACTTTTTACATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGATCGAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAACAGTTTTGTGTTTTTAGTAGAGATGGGGTTTCATCACATTGGTCAGGCTAGTCTCAAACTCCCCACCTCAGGTGATCCGGCCATCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGTCTTCCTGTCTTTCTTAGGTCTCTGTCCCCCTCACCCCATCTCTGAATGTCTCTCTTCACAGTGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGGGCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTGGTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATCCTGCTGGTCAACTTGCTCATTGCCATGTTCAGGTGAGGCCTGACTGCTCTCTGATCTGACCCCACCCAGCATGACCCGTGGCCCTCTCATGACTCTTGAACCCCGTCTAATGAATTCTGTTTTTAGTCCCTGAACTCTGATCCAATCTAATGCTGCCTTCTCCCCAAACCCAACCAGACCCTGCTTGTAATTTGGACTTTGGACTGATCCTCTCCCTGAGCCCAGGTTGAACTTCCTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCGCCAAGGCTAGAGTGTGGTGATGTGATCGTAGCTTACTGCAGCCTCGACCTCCTGGACTCAAGCAATCCTCCTGCCTTCGCCCCATAAGTAGCTGGGACTACTT
|
AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAAAAGGGAGAAATGTCTAATCATCTCCGGAATTGAATGGATGAATCATCCTTTGTTTCGCCAGTTCCCTCTAGATGGACATTTAGGTTCTCTCTTTCTTTCTTTTTTTGTTTTAAATAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTCTCAAACTCCAGGGCTCAAGCAATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACTATGCTCAGCCTTCTGTTTTTTTATTATTCCAAAATAATAAAAGTTTACATCCCAGATGTAAAGTTTATGGGTCAAAGGGTACATTTATTTTTGACATGGATAGATTTCCTTCTAAGTAGCTTCACTCATTTCCACACCTGCCATCAGGGTAAGAGAGTGCCCCCTTGAGGCCATGCTCGACAATGCCTGATACTTTCACTCTAAAATGTAGCTCTCAATTTAACTGAAAAAAAATTTGCCAATTTAATGGGTAAACATGACCTCTCCTTGTTATAATTTATGCACTCTTGACTACCAGATAGGTTGGACATCTTTTCCTAAGCTTAATGGCCATATGTCCTTGTGCCCCCTTGTTTTTTTTTTGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGTGCCTGCCTCCACGCCCGGCTAATTTTTTGTATTTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGTTCTCGATCTCCTGACCCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGACCGGCCACCCTCCCGTTTTTTTAATTGGGGTTCATTGATTTGTATATGTATAAATGTATATACTCCTTATACTCTGGATCCTAATCCTCGGTAGTTTTGTTGGTCTTAATATCTTCATATCTTCTCGAAGTCTGTGGCTTGTCTTTTCACTTTCACTTTTGTATGTTTCTTTTCTTTTCTTTTTTTTGAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCTGTCCATACACTAGGTTTTTAATCCATCCAAAGTTTAAGTACATGAGGATGCAAAATAGGGGTAGAATTTTTATTTTCCCCATAGGAATTATTGATGTTTACTGGCCGTTTGAACGTCCTCTGTGAATTGTACGTGGTATCCTTTATCTGGCTTCCTTCCTTTTGCGTATTAGTTTGTAAGGACTCTATATGTTTTGCCTTTTATAGGTTGGACAGATATTCCGGCAGTTTTTCCAGCTTGATTCTTACAGGGACCAGCTCTTTGCTAAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATCGTCATCGTGAGCAAGATGGTGAGGCGGGGCGGGGCCAAAGTGGGCGGGGACATAGGGAAAGGGGTGGGGCCAGGGAGGGAGTGGTCCGTGGAGAAGGGGCGTGACTTTGGGGAGCAATGGGGCGTGTTTTTGGGATATAGGGGTGGGGCCAGAGTAGGAAAGGGCGGGGCCAGACTCAGCCACATCTCCCCACAGATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGGCTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCAAGTATCCTGCGCCGCGTCTTCTACCGTCCCTACCTGCAGATCTTCGGGCAGATTCCCCAGGAGGACATGGACGGTAGGGGGGATGACGGCCTGACAGCCTTCCTCTGAGTCTCTGTCCCCGCTCCCTGGGTCTCTGTCCTCCTGGCTCTAAGAAAATATCTGTCTCTCTGAGTCTCTGTCTCCCTCTTTCTCTGGATCTCTGAGTGATACCCTATATTCCCCATCATCATCTCTCTGGGTCTCTGCCTACCCCACCCCCTCTGTCTTTCTGTCTGTCTTTCTTTTTTCTTTTTTTTTTTCTTTTTTTTTGAGATGGATGTTAGAAATGTTTATTTTGTGGTGTCGTAAAGAAATAGTACTTGAACATAAATTTAATTTTTTTAGTAAAGCCATTTTTATTTTTTGTAGAAAGGGTACACTCGCCAGCAGTTTTGTCATGAGAGTACACGGAACAAAGGAGATAGGGTCATTTATAACCTGACGCGTCTATTTTACTGCTGTGTCTGGTTTTTATTGGCTGGAACCGGACTTTACATTTTGTATTTGTCTTGATTGGCTAGTAACTTAGAAGTTTTTAAAAGAAGCGAAGGCAGAGGAGAACAAAGGAAGGAGGAAGTAACTTGTGGAATGTTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTATGATCTAATGCTTGCTTGAACCAGTATAAGTATGTCAGGGCAAATATTTAGGCTAAATTGTGAGAGCTAAGAACATAAAGTACATTGATTTATTTTTTATGGCTAGTAGATATTTAAGAATGTTAGCACAGGTGTTTGAATAAATTTTGTTTCTAAGAGAAGTTACTATTTATTGTTAATTAGATGGGGAGGAAAGTCTTTGAAGAGGAACCTGTACTTTACTTTTTACATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGATCGAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAACAGTTTTGTGTTTTTAGTAGAGATGGGGTTTCATCACATTGGTCAGGCTAGTCTCAAACTCCCCACCTCAGGTGATCCGGCCATCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGTCTTCCTGTCTTTCTTAGGTCTCTGTCCCCCTCACCCCATCTCTGAATGTCTCTCTTCACAGTGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGGGCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTGGTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATCCTGCTGGTCAACTTGCTCATTGCCATGTTCAGGTGAGGCCTGACTGCTCTCTGATCTGACCCCACCCAGCATGACCCGTGGCCCTCTCATGACTCTTGAACCCCGTCTAATGAATTCTGTTTTTAGTCCCTGAACTCTGATCCAATCTAATGCTGCCTTCTCCCCAAACCCAACCAGACCCTGCTTGTAATTTGGACTTTGGACTGATCCTCTCCCTGAGCCCAGGTTGAACTTCCTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCGCCAAGGCTAGAGTGTGGTGATGTGATCGTAGCTTACTGCAGCCTCGACCTCCTGGACTCAAGCAATCCTCCTGCCTTCGCCCCATAAGTAGCTGGGACTACTTN
|
benign
| 307,757 |
Is the variant located on chromosome 19 at position 49595234, gene PRR12 (proline rich 12), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Abnormality_of_vision', 'Autism', 'Delayed_speech_and_language_development', 'Iris_coloboma', 'Motor_delay', 'Neuroocular_syndrome']
|
TTAGGGCCTACGGTTCCTTAGCTTAACACCCCCCACCCCGGTCAGCTGGAAGGGTCCCCCCAACTCCCCGGGGGGTTTTCTGAGCTTCCTTCTCAGAAGGCAGCTTGGAAGAACCCCCTGACGTCTCCCCTTTCCCCCCAGCTTGGTTTATGGCAGCTCCAGGACCTCGCACCCCGAGACGGACATCTTACACCGCCAGGCCTATGCGGCCCCCCACCCACTGCAAAGCTATGCCACCAACCACCACCCGGCAGGTACGGCCCCCATCCCGCCCCGCTTTGGGCTGGCCCTCCCCCTCCCCCCGAGGCAGCTGATTGGCTGTTGAAAGTTCCGCCCCTCCTAATTGGCCGTGGCCCGTGCCGTGGCCCGCCCCTTGCTGTGTCTCCTCTGATTGGTTGCCTTTGAGGCTGCTGGTCGCTGCTTCATTTCTCGCCGGATTCGTCCGCCCCTGCCTCGCCCCTCCCCTTTCGCTCCAATTGGCCCTGTTACCATCAGCCCCCAAATCCCACCTTCTCTTCCAGGCTTTTCCGCCTCTCCCCAACCCACCCCAATTCTTTCCCTCTGGGTTTGCCCTATTCTTTTGGCTCTTTGGAACTCTGAATTCTTTCTTCCTGATTCCCTTTCTTCCTGATTGGCTCTAATTCTCTGGCCCGCCCTGTTTTATCTTATTTTGCCCCATTGCCTTATTCTACCCACCTTGCCTTTGCCTCCAAGGTTTCTGATTGGTTCCCTCTTCCTAGGGGTACTGGTAATGACATGATGCTGTCCAGTTTGACCCTTGACCCTCCTGATTGGCTCCTTCCCTTTTTCCCTCCCCATCTTTTTTTCTGAACCCTCCCACTTAGCTCAATCCTTTCTGACACGTTCTCTGGTCTTTCTTAGACTTCATTGTCCCATCCTTTCCTCTTCCTTGCTGGAAATATCCAAATTTGGTCTCCCTCCCAGCCTTACTGAGGACTCTGTTCTTTTGCTCCTGGCTCTTTCGCTTCTAGATTTTTCTACACTTTTGTCTACCATTTCCTACCTGGGCCCCCTGTCCTTATGACTGGATTGCCCCTTGTCTTGCTTTACTGTCTCACCTTTCCCCCTTCCCTCCCCTCATTCATGTCTCATTAGCTTGGTTCTATCCATCTTGTTTTTGAATTTGCCCTTTTCTCTCCCATCCCCTCCTTTTCCTGATCCAACTTGCTTTTGGCCTCTTCCCTTTCTCTCTTGACTGTATCCTACCCACCCCCACCTGGCTGACTATAACCCCTGTCCCCGGCCAGGCCTCTCTGGACTCTTCGACACTGGCCTCCACCACGCGGGCTCAGCAGGGCCCGACGCCTCCGTCATGAACCTTATCTCGGCCCTGGAATCCCGGGGCCCCCAGCCTGGCCCCTCCGCCTCCTCTCTCCTCTCCCAGTTCCGCAGTCCTTCCTGGCAAACAGGTAAGCCCAGCGCCGGCCCTGCAGGGCCAGGGTGGGACTGGCTCGCTGTTCTCTCTGACGCGCGGTCTTCCTCATCTCCAGCCATGCACACGCCAGGCCCCACGGAGCTCTTCATCTCGGGTGCCCTGCCGGGTTCCAGCACCTTTCCGTCCTCATCTGCCCTGTCGGCTTACCAACACCCGGCTTCCTTCGGCAGCCGCCCCTTCCCAGTGCCCTCGTCCCTCAGCCTCCAGGACCCCCCATTCAGCCCTCCAGCTAACGGGCTCCTGTCCCCTCATGACGTGCTGCACCTGAAGCCCTCGCAGGCACCCACGGTGCCCTCTTCACTGGGCTTCGAGCGCCTGGCAGGGGGCGGTGTCTTGGGGCCAGCTGGTCTCGGTCCAGCCCAGACCCCCCCTTACCGCCCTGGCCCCCCAGACCCACCACCACCTCCTCGCCACCTCCCAACTCAGTTCAACCTGCTGGCTTCCTCTTCCGCTGCCGCCGCCGCTGCCGAGCAGTCCTCCCCACAGCTCTATAACTTCTCGGGTGCTGCCCCGGGCCCACCGCCGCCTGAGCGGGCCCTGCCACGCCAGGACACGGTCATCAAGCACTACCAGCGGCCAGCCAGTGCCCAGCCCCCACCACCCCCGCCACCAGCCCATGCGCTCCAGCACTATCTGAGCTGTGGAGGCAGCTACCCCTCCATGGGCCACCGGGCCAACCTGGCCTGCAGCCCCCTGGGTGGTGGGGAGCCCTCCCCGGGTGCTGGGGAGCCTAGCAAGGCTGGTCCCAGCGGAGCCACGGCTGGGGCATCTGGCCGGGCCACGGGCCCTGAGGCAGCAGGGGGCGGTGGGGCTGGGGGTGGTGGTGGAGGTTACCGCCCCATCATTCAGTCGCCTGGGTACAAGACGGGCAAAGGTGGTTATGGAGCAGCTGCCGGGGGTGCCACCAGGCCCCCCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCATACCCAGGGCCAGCCGCCCACTCCCAGGGGCTGCCCACAGCCAGCCCCTCGCTCAGCTACAGTACCGGCCATTCCCCAGCGCTCTCGGGCCATGGGGGTGGCTGGGGACCCAGCTCCCTGGGAGGCGGCGGTGAGGCCAGCCCATCTCACATCATTCGTCCGCTCCAGTCACCGCCTGCCACCGGCCGTCCACCTGGAGTCGGCTCTCCAGGAGCCCCTGGCAAATACCTGAGCTCAGTCTTGGCCTCAGCGCCTTTCCTGGCACCTCCGGGAGCTGGCAGCTATGCAGCCGGAGCAGGTGGCTACAAGGGCAAGGGGGATGGCTCGGAGCTGCTGGCGGGCCCAGGTGGGCCTCCTGCGGAGCGCACAGAGGATGAGGAGTTCCTTATCCAGCACCTCTTGCAGGCGCCCAGCCCTCCTCGGACCTCAGGGGCGGACGGCTTGGTGGGCGAGGACGGGGCAGCAGATGCCTCTAAGGGACTTGGGGGGAGTGGCGGGGCCGGGGGACCACCGGGTACACCCTACGAGTTGGCCAAGGAAGACCCCCAGAGGTACCACCTGCAGAGTGTCATCCGCACCAGTGCCAGCCTGGATGAGGGTGCCACTGCGGCACTGGAGCTGGGCCTGGGGAGGCTGAAGGAGAAGAAGAAAGGGCCAGAGCGGGGTGGCGAGACCCCCGAGGGGCTGGCCACCTCTGTTGTCCACTACGGGGCAGGCGCCAAGGAGCTGGGGGCCTTCTTGCAAAAGAGCCCTCCGCCCCCACCTCCCACGGCCCAGTCTACCCAGCCCACTCCCCATGGCCTCCTTCTGGAGGCCGGGGGCCCTGACCTCCCACTGGTGCTGCCTCCGCCTCCCCCCCAGCTGCTCCCCTCGGTCCTCAGCCATGCCCCCAGTCCCTCTCCCAGCGCCTCCAAAGTCGGCGTCCACCTCCTTGAGCCAGCCACCCGCGATGGGGCACCCCAGCCACCTCCACCGCCACCCCCGCCTCCACCACCCATGCCCCTGCAGCTCGAGGCCCACCTCCGCAGCCATGGCCTGGAGCCCGCGGCCCCCAGCCCCCGCCTGCGACCCGAGGAGAGCCTGGATCCGCCAGGCGCCATGCAGGAATTGCTCGGGGCTCTGGAGCCGCTGCCCCCGGCGCCTGGGGATACTGGCGTAGGCCCACCAAACTCGGAGGGCAAGGATCCCGCAGGCGCCTACCGCAGCCCCAGCCCGCAAGGCACCAAGGCGCCGCGTTTCGTGCCGCTCACCTCCATCTGCTTCCCTGACTCCTTGCTCCAAGACGAGGAGCGCAGCTTCTTCCCCACCATGGAGGAGATGTTCGGTGGAGGGGCCGCGGACGACTACGGCAAGGCCGGGCCACCTGAGGACGAGGGGGACCCCAAGGCTGGCGCTGGGCCACCCCCC
|
TTAGGGCCTACGGTTCCTTAGCTTAACACCCCCCACCCCGGTCAGCTGGAAGGGTCCCCCCAACTCCCCGGGGGGTTTTCTGAGCTTCCTTCTCAGAAGGCAGCTTGGAAGAACCCCCTGACGTCTCCCCTTTCCCCCCAGCTTGGTTTATGGCAGCTCCAGGACCTCGCACCCCGAGACGGACATCTTACACCGCCAGGCCTATGCGGCCCCCCACCCACTGCAAAGCTATGCCACCAACCACCACCCGGCAGGTACGGCCCCCATCCCGCCCCGCTTTGGGCTGGCCCTCCCCCTCCCCCCGAGGCAGCTGATTGGCTGTTGAAAGTTCCGCCCCTCCTAATTGGCCGTGGCCCGTGCCGTGGCCCGCCCCTTGCTGTGTCTCCTCTGATTGGTTGCCTTTGAGGCTGCTGGTCGCTGCTTCATTTCTCGCCGGATTCGTCCGCCCCTGCCTCGCCCCTCCCCTTTCGCTCCAATTGGCCCTGTTACCATCAGCCCCCAAATCCCACCTTCTCTTCCAGGCTTTTCCGCCTCTCCCCAACCCACCCCAATTCTTTCCCTCTGGGTTTGCCCTATTCTTTTGGCTCTTTGGAACTCTGAATTCTTTCTTCCTGATTCCCTTTCTTCCTGATTGGCTCTAATTCTCTGGCCCGCCCTGTTTTATCTTATTTTGCCCCATTGCCTTATTCTACCCACCTTGCCTTTGCCTCCAAGGTTTCTGATTGGTTCCCTCTTCCTAGGGGTACTGGTAATGACATGATGCTGTCCAGTTTGACCCTTGACCCTCCTGATTGGCTCCTTCCCTTTTTCCCTCCCCATCTTTTTTTCTGAACCCTCCCACTTAGCTCAATCCTTTCTGACACGTTCTCTGGTCTTTCTTAGACTTCATTGTCCCATCCTTTCCTCTTCCTTGCTGGAAATATCCAAATTTGGTCTCCCTCCCAGCCTTACTGAGGACTCTGTTCTTTTGCTCCTGGCTCTTTCGCTTCTAGATTTTTCTACACTTTTGTCTACCATTTCCTACCTGGGCCCCCTGTCCTTATGACTGGATTGCCCCTTGTCTTGCTTTACTGTCTCACCTTTCCCCCTTCCCTCCCCTCATTCATGTCTCATTAGCTTGGTTCTATCCATCTTGTTTTTGAATTTGCCCTTTTCTCTCCCATCCCCTCCTTTTCCTGATCCAACTTGCTTTTGGCCTCTTCCCTTTCTCTCTTGACTGTATCCTACCCACCCCCACCTGGCTGACTATAACCCCTGTCCCCGGCCAGGCCTCTCTGGACTCTTCGACACTGGCCTCCACCACGCGGGCTCAGCAGGGCCCGACGCCTCCGTCATGAACCTTATCTCGGCCCTGGAATCCCGGGGCCCCCAGCCTGGCCCCTCCGCCTCCTCTCTCCTCTCCCAGTTCCGCAGTCCTTCCTGGCAAACAGGTAAGCCCAGCGCCGGCCCTGCAGGGCCAGGGTGGGACTGGCTCGCTGTTCTCTCTGACGCGCGGTCTTCCTCATCTCCAGCCATGCACACGCCAGGCCCCACGGAGCTCTTCATCTCGGGTGCCCTGCCGGGTTCCAGCACCTTTCCGTCCTCATCTGCCCTGTCGGCTTACCAACACCCGGCTTCCTTCGGCAGCCGCCCCTTCCCAGTGCCCTCGTCCCTCAGCCTCCAGGACCCCCCATTCAGCCCTCCAGCTAACGGGCTCCTGTCCCCTCATGACGTGCTGCACCTGAAGCCCTCGCAGGCACCCACGGTGCCCTCTTCACTGGGCTTCGAGCGCCTGGCAGGGGGCGGTGTCTTGGGGCCAGCTGGTCTCGGTCCAGCCCAGACCCCCCCTTACCGCCCTGGCCCCCCAGACCCACCACCACCTCCTCGCCACCTCCCAACTCAGTTCAACCTGCTGGCTTCCTCTTCCGCTGCCGCCGCCGCTGCCGAGCAGTCCTCCCCACAGCTCTATAACTTCTCGGGTGCTGCCCCGGGCCCACCGCCGCCTGAGCGGGCCCTGCCACGCCAGGACACGGTCATCAAGCACTACCAGCGGCCAGCCAGTGCCCAGCCCCCACCACCCACCACCCCCGCCACCAGCCCATGCGCTCCAGCACTATCTGAGCTGTGGAGGCAGCTACCCCTCCATGGGCCACCGGGCCAACCTGGCCTGCAGCCCCCTGGGTGGTGGGGAGCCCTCCCCGGGTGCTGGGGAGCCTAGCAAGGCTGGTCCCAGCGGAGCCACGGCTGGGGCATCTGGCCGGGCCACGGGCCCTGAGGCAGCAGGGGGCGGTGGGGCTGGGGGTGGTGGTGGAGGTTACCGCCCCATCATTCAGTCGCCTGGGTACAAGACGGGCAAAGGTGGTTATGGAGCAGCTGCCGGGGGTGCCACCAGGCCCCCCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCATACCCAGGGCCAGCCGCCCACTCCCAGGGGCTGCCCACAGCCAGCCCCTCGCTCAGCTACAGTACCGGCCATTCCCCAGCGCTCTCGGGCCATGGGGGTGGCTGGGGACCCAGCTCCCTGGGAGGCGGCGGTGAGGCCAGCCCATCTCACATCATTCGTCCGCTCCAGTCACCGCCTGCCACCGGCCGTCCACCTGGAGTCGGCTCTCCAGGAGCCCCTGGCAAATACCTGAGCTCAGTCTTGGCCTCAGCGCCTTTCCTGGCACCTCCGGGAGCTGGCAGCTATGCAGCCGGAGCAGGTGGCTACAAGGGCAAGGGGGATGGCTCGGAGCTGCTGGCGGGCCCAGGTGGGCCTCCTGCGGAGCGCACAGAGGATGAGGAGTTCCTTATCCAGCACCTCTTGCAGGCGCCCAGCCCTCCTCGGACCTCAGGGGCGGACGGCTTGGTGGGCGAGGACGGGGCAGCAGATGCCTCTAAGGGACTTGGGGGGAGTGGCGGGGCCGGGGGACCACCGGGTACACCCTACGAGTTGGCCAAGGAAGACCCCCAGAGGTACCACCTGCAGAGTGTCATCCGCACCAGTGCCAGCCTGGATGAGGGTGCCACTGCGGCACTGGAGCTGGGCCTGGGGAGGCTGAAGGAGAAGAAGAAAGGGCCAGAGCGGGGTGGCGAGACCCCCGAGGGGCTGGCCACCTCTGTTGTCCACTACGGGGCAGGCGCCAAGGAGCTGGGGGCCTTCTTGCAAAAGAGCCCTCCGCCCCCACCTCCCACGGCCCAGTCTACCCAGCCCACTCCCCATGGCCTCCTTCTGGAGGCCGGGGGCCCTGACCTCCCACTGGTGCTGCCTCCGCCTCCCCCCCAGCTGCTCCCCTCGGTCCTCAGCCATGCCCCCAGTCCCTCTCCCAGCGCCTCCAAAGTCGGCGTCCACCTCCTTGAGCCAGCCACCCGCGATGGGGCACCCCAGCCACCTCCACCGCCACCCCCGCCTCCACCACCCATGCCCCTGCAGCTCGAGGCCCACCTCCGCAGCCATGGCCTGGAGCCCGCGGCCCCCAGCCCCCGCCTGCGACCCGAGGAGAGCCTGGATCCGCCAGGCGCCATGCAGGAATTGCTCGGGGCTCTGGAGCCGCTGCCCCCGGCGCCTGGGGATACTGGCGTAGGCCCACCAAACTCGGAGGGCAAGGATCCCGCAGGCGCCTACCGCAGCCCCAGCCCGCAAGGCACCAAGGCGCCGCGTTTCGTGCCGCTCACCTCCATCTGCTTCCCTGACTCCTTGCTCCAAGACGAGGAGCGCAGCTTCTTCCCCACCATGGAGGAGATGTTCGGTGGAGGGGCCGCGGACGACTACGGCAAGGCCGGGCCACCTGAGGACGAGGGGGACCCCAAGGCTGGCGCTGGGCC
|
pathogenic
| 307,839 |
The mutation impacting PRR12 (proline rich 12) on chromosome 19 at position 49597603: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Neuroocular_syndrome', 'Neuroocular_syndrome_1']
|
CCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCATACCCAGGGCCAGCCGCCCACTCCCAGGGGCTGCCCACAGCCAGCCCCTCGCTCAGCTACAGTACCGGCCATTCCCCAGCGCTCTCGGGCCATGGGGGTGGCTGGGGACCCAGCTCCCTGGGAGGCGGCGGTGAGGCCAGCCCATCTCACATCATTCGTCCGCTCCAGTCACCGCCTGCCACCGGCCGTCCACCTGGAGTCGGCTCTCCAGGAGCCCCTGGCAAATACCTGAGCTCAGTCTTGGCCTCAGCGCCTTTCCTGGCACCTCCGGGAGCTGGCAGCTATGCAGCCGGAGCAGGTGGCTACAAGGGCAAGGGGGATGGCTCGGAGCTGCTGGCGGGCCCAGGTGGGCCTCCTGCGGAGCGCACAGAGGATGAGGAGTTCCTTATCCAGCACCTCTTGCAGGCGCCCAGCCCTCCTCGGACCTCAGGGGCGGACGGCTTGGTGGGCGAGGACGGGGCAGCAGATGCCTCTAAGGGACTTGGGGGGAGTGGCGGGGCCGGGGGACCACCGGGTACACCCTACGAGTTGGCCAAGGAAGACCCCCAGAGGTACCACCTGCAGAGTGTCATCCGCACCAGTGCCAGCCTGGATGAGGGTGCCACTGCGGCACTGGAGCTGGGCCTGGGGAGGCTGAAGGAGAAGAAGAAAGGGCCAGAGCGGGGTGGCGAGACCCCCGAGGGGCTGGCCACCTCTGTTGTCCACTACGGGGCAGGCGCCAAGGAGCTGGGGGCCTTCTTGCAAAAGAGCCCTCCGCCCCCACCTCCCACGGCCCAGTCTACCCAGCCCACTCCCCATGGCCTCCTTCTGGAGGCCGGGGGCCCTGACCTCCCACTGGTGCTGCCTCCGCCTCCCCCCCAGCTGCTCCCCTCGGTCCTCAGCCATGCCCCCAGTCCCTCTCCCAGCGCCTCCAAAGTCGGCGTCCACCTCCTTGAGCCAGCCACCCGCGATGGGGCACCCCAGCCACCTCCACCGCCACCCCCGCCTCCACCACCCATGCCCCTGCAGCTCGAGGCCCACCTCCGCAGCCATGGCCTGGAGCCCGCGGCCCCCAGCCCCCGCCTGCGACCCGAGGAGAGCCTGGATCCGCCAGGCGCCATGCAGGAATTGCTCGGGGCTCTGGAGCCGCTGCCCCCGGCGCCTGGGGATACTGGCGTAGGCCCACCAAACTCGGAGGGCAAGGATCCCGCAGGCGCCTACCGCAGCCCCAGCCCGCAAGGCACCAAGGCGCCGCGTTTCGTGCCGCTCACCTCCATCTGCTTCCCTGACTCCTTGCTCCAAGACGAGGAGCGCAGCTTCTTCCCCACCATGGAGGAGATGTTCGGTGGAGGGGCCGCGGACGACTACGGCAAGGCCGGGCCACCTGAGGACGAGGGGGACCCCAAGGCTGGCGCTGGGCCACCCCCCGGCCCCCCTGCTTATGATCCCTATGGGCCCTACTGTCCTGGCCGGGCGTCGGGAGCCGGGCCCGAGACACCGGGCCTGGGCCTGGACCCCAACAAACCGCCTGAACTGCCCTCCACGGTCAACGCCGAGCCGCTGGGCCTGATCCAGAGTGGCCCCCACCAGGCGGCGCCACCACCCCCGCCTCCGCCACCGCCGCCTCCCGCGCCGGCCTCCGAACCCAAGGGTGGCCTCACCTCGCCCATCTTCTGCTCTACCAAGCCAAAGAAGCTGCTCAAGACATCCTCCTTCCACCTGCTGCGGCGCCGCGACCCACCCTTCCAGACCCCCAAGAAGCTGTACGCCCAGGAGTACGAGTTCGAGGCGGACGAGGACAAGGCCGATGTTCCCGCCGACATCCGCCTCAACCCCCGGCGCTTGCCTGACCTGGTCTCCAGCTGCCGCTCCCGTCCGGCCCTCTCGCCACTGGGGGACATCGACTTCTGCCCACCCAACCCAGGACCCGATGGCCCCCGGCGCCGTGGCCGCAAGCCCACGAAGGCGAAACGTGATGGGCCACCCCGGCCACGGGGGAGGCCCCGGATCCGCCCCCTGGAGGTCCCGACCACTGCGGGGCCCGCCTCGGCCTCCACGCCCACCGATGGCGCCAAGAAACCCCGGGGCCGGGGCCGAGGCCGGGGTCGAAAGGCTGAGGAGGCAGGGGGCACCCGGTTGGAGCCCCTGAAGCCACTTAAGGTGAGGGGAAATGGGGTCTTGTAGGGGATAGGGGAGGAGGAGCTGTGTCCGATGTTTGAGTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTTGCCCGCCACCACGCCCGGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGTCAGGATGGTCTCGATCTCCTGGCCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCGCCCGGCCTCCCGATGTTTTGAGTCTTAAAGGACAGGTTTATGGCCGCACCTTGGCATTTTTGGGGCAGGGGGATAATAAGGTTTACATTTCTAAAATCTGTGAGGAAGTTAGCGTGAGGAATTTCAGGGTCTCACTGACAGAAAGACCTAAGAATTGAAATTCTGAATCTAGGCTGGGCAGTGTGGTTCATGCCTGTAATCCCAGCGCTTTGGGAGACTGAGGCGGGAGGATCTCTTGAACCCAGATGTTCGAGACCAGCCTGGTCAGCGTAGTGAGACCCTGGTCTCTATTAAAAACACAAAAATTTAGCCAGGTGTGGCTGCGTGTACCTACAGTCCCAGCTACTCAAGAGGTTGAGGTGGGAGGATCTCTTGAGCCCAGGAGTTCAAGGCTGCAGGGAGCTATGATTGCATCACTGTGGCCTGGGCCACAGAGTGAGACCCTGTCTCAAGAGATAAAGGAAATTCTGGGTTTAGGGAGAGAGGCAGGAGGTTGGAGCTTACGCTGGTTTGAAACTCCTGACCTCAAGTGATTTGCCTGCCTCAGTCTCCCAAGGTGCTGGGATTACAGGCACGAGCCACCTCACCCGGTCTGCTTGCTTTTAGTTTCTATATCCCAAAGGATGGGCATTCAGGGATCCTACATTCCTGGGTCTCATGGGAAGCGGGTCTAGGGACCTGAACTGGGCTGTAAGTGAAGAGGCTCAGTGAGTCCAAGTTCCTGGTCTTCTGAGGGAGGAACTCCAGTCTTGTCCTCCTAGAATCTAAGACAAGGGGTCTGCAGGTTTGAATTCTATAAATTCACAGGCTGAGCACCTGTAAATTTGGATTTTTGGGGGCTGAGGGAGGATGGGACTGGGGGCCCAGGCTACTGGGCCCTCACGGCCCGCCACTCCCATGTCTAGATCAAGCTGTCTGTGCCCAAGGCTGGCGAGGGTCTGGGAACCTCATCGGGTGATGCCATATCAGGCACTGACCACAACAGCCTGGACTCGAGCCTGACTCGGGAGAAGATCGAGGCCAAGATTAAGGAGGTGGAGGAGAAGCAGCCGGAGATGAAGTCGGGTTTCATGGCCTCCTTCTTGGACTTCCTCAAGTCAGGCAAGCGCCACCCACCACTCTACCAGGCGGGCCTGACGCCTCCGCTCAGCCCTCCCAAGAGTGTGCCACCCTCTGTGCCAGCCCGAGGCCTGCAGCCCCAGCCCCCTGCCACCCCTGCTGTGCCACATCCCCCACCTTCCGGAGCCTTTGGGCTTGGGGGCGCCCTGGAGGCTGCAGAGAGTG
|
CCCCACCCCGTTCGACCGCCACCCCCAAATGTCAGAGCCTGGGTGGGCCAGCAGCCGCCTATGCCACTGGGAAGGCCTCTGGGGCTGGAGGGGCAGGGGGCCAGGCTTATTCCCCCGGTCAGCCTCAAGGGCTTCTGGGACCCCAGGCCTACGGGCAAGGGTTTGGAGGGGGGCAGGCACAGGACTTGAGCAAAGCCCCCAGCTACTCAGGGGGCCCCCCACAGCCCCCCAGCGGCCCCCCTCCTCCTGGCCTGGCCACATGTCAGAGCTACTCCCCGGACCAGCTGCAGGGGCAGCTGTATGGGGTGCAGGGCGAGCCATACCCAGGGCCAGCCGCCCACTCCCAGGGGCTGCCCACAGCCAGCCCCTCGCTCAGCTACAGTACCGGCCATTCCCCAGCGCTCTCGGGCCATGGGGGTGGCTGGGGACCCAGCTCCCTGGGAGGCGGCGGTGAGGCCAGCCCATCTCACATCATTCGTCCGCTCCAGTCACCGCCTGCCACCGGCCGTCCACCTGGAGTCGGCTCTCCAGGAGCCCCTGGCAAATACCTGAGCTCAGTCTTGGCCTCAGCGCCTTTCCTGGCACCTCCGGGAGCTGGCAGCTATGCAGCCGGAGCAGGTGGCTACAAGGGCAAGGGGGATGGCTCGGAGCTGCTGGCGGGCCCAGGTGGGCCTCCTGCGGAGCGCACAGAGGATGAGGAGTTCCTTATCCAGCACCTCTTGCAGGCGCCCAGCCCTCCTCGGACCTCAGGGGCGGACGGCTTGGTGGGCGAGGACGGGGCAGCAGATGCCTCTAAGGGACTTGGGGGGAGTGGCGGGGCCGGGGGACCACCGGGTACACCCTACGAGTTGGCCAAGGAAGACCCCCAGAGGTACCACCTGCAGAGTGTCATCCGCACCAGTGCCAGCCTGGATGAGGGTGCCACTGCGGCACTGGAGCTGGGCCTGGGGAGGCTGAAGGAGAAGAAGAAAGGGCCAGAGCGGGGTGGCGAGACCCCCGAGGGGCTGGCCACCTCTGTTGTCCACTACGGGGCAGGCGCCAAGGAGCTGGGGGCCTTCTTGCAAAAGAGCCCTCCGCCCCCACCTCCCACGGCCCAGTCTACCCAGCCCACTCCCCATGGCCTCCTTCTGGAGGCCGGGGGCCCTGACCTCCCACTGGTGCTGCCTCCGCCTCCCCCCCAGCTGCTCCCCTCGGTCCTCAGCCATGCCCCCAGTCCCTCTCCCAGCGCCTCCAAAGTCGGCGTCCACCTCCTTGAGCCAGCCACCCGCGATGGGGCACCCCAGCCACCTCCACCGCCACCCCCGCCTCCACCACCCATGCCCCTGCAGCTCGAGGCCCACCTCCGCAGCCATGGCCTGGAGCCCGCGGCCCCCAGCCCCCGCCTGCGACCCGAGGAGAGCCTGGATCCGCCAGGCGCCATGCAGGAATTGCTCGGGGCTCTGGAGCCGCTGCCCCCGGCGCCTGGGGATACTGGCGTAGGCCCACCAAACTCGGAGGGCAAGGATCCCGCAGGCGCCTACCGCAGCCCCAGCCCGCAAGGCACCAAGGCGCCGCGTTTCGTGCCGCTCACCTCCATCTGCTTCCCTGACTCCTTGCTCCAAGACGAGGAGCGCAGCTTCTTCCCCACCATGGAGGAGATGTTCGGTGGAGGGGCCGCGGACGACTACGGCAAGGCCGGGCCACCTGAGGACGAGGGGGACCCCAAGGCTGGCGCTGGGCCACCCCCCGGCCCCCCTGCTTATGATCCCTATGGGCCCTACTGTCCTGGCCGGGCGTCGGGAGCCGGGCCCGAGACACCGGGCCTGGGCCTGGACCCCAACAAACCGCCTGAACTGCCCTCCACGGTCAACGCCGAGCCGCTGGGCCTGATCCAGAGTGGCCCCCACCAGGCGGCGCCACCACCCCCGCCTCCGCCACCGCCGCCTCCCGCGCCGGCCTCCGAACCCAAGGGTGGCCTCACCTCGCCCATCTTCTGCTCTACCAAGCCAAAGAAGCTGCTCAAGACATCCTCCTTCCACCTGCTGCGGCGCCGCGACCCACCCTTCCAGACCCCAAGAAGCTGTACGCCCAGGAGTACGAGTTCGAGGCGGACGAGGACAAGGCCGATGTTCCCGCCGACATCCGCCTCAACCCCCGGCGCTTGCCTGACCTGGTCTCCAGCTGCCGCTCCCGTCCGGCCCTCTCGCCACTGGGGGACATCGACTTCTGCCCACCCAACCCAGGACCCGATGGCCCCCGGCGCCGTGGCCGCAAGCCCACGAAGGCGAAACGTGATGGGCCACCCCGGCCACGGGGGAGGCCCCGGATCCGCCCCCTGGAGGTCCCGACCACTGCGGGGCCCGCCTCGGCCTCCACGCCCACCGATGGCGCCAAGAAACCCCGGGGCCGGGGCCGAGGCCGGGGTCGAAAGGCTGAGGAGGCAGGGGGCACCCGGTTGGAGCCCCTGAAGCCACTTAAGGTGAGGGGAAATGGGGTCTTGTAGGGGATAGGGGAGGAGGAGCTGTGTCCGATGTTTGAGTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGTTGCCCGCCACCACGCCCGGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTAGTCAGGATGGTCTCGATCTCCTGGCCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCGCCCGGCCTCCCGATGTTTTGAGTCTTAAAGGACAGGTTTATGGCCGCACCTTGGCATTTTTGGGGCAGGGGGATAATAAGGTTTACATTTCTAAAATCTGTGAGGAAGTTAGCGTGAGGAATTTCAGGGTCTCACTGACAGAAAGACCTAAGAATTGAAATTCTGAATCTAGGCTGGGCAGTGTGGTTCATGCCTGTAATCCCAGCGCTTTGGGAGACTGAGGCGGGAGGATCTCTTGAACCCAGATGTTCGAGACCAGCCTGGTCAGCGTAGTGAGACCCTGGTCTCTATTAAAAACACAAAAATTTAGCCAGGTGTGGCTGCGTGTACCTACAGTCCCAGCTACTCAAGAGGTTGAGGTGGGAGGATCTCTTGAGCCCAGGAGTTCAAGGCTGCAGGGAGCTATGATTGCATCACTGTGGCCTGGGCCACAGAGTGAGACCCTGTCTCAAGAGATAAAGGAAATTCTGGGTTTAGGGAGAGAGGCAGGAGGTTGGAGCTTACGCTGGTTTGAAACTCCTGACCTCAAGTGATTTGCCTGCCTCAGTCTCCCAAGGTGCTGGGATTACAGGCACGAGCCACCTCACCCGGTCTGCTTGCTTTTAGTTTCTATATCCCAAAGGATGGGCATTCAGGGATCCTACATTCCTGGGTCTCATGGGAAGCGGGTCTAGGGACCTGAACTGGGCTGTAAGTGAAGAGGCTCAGTGAGTCCAAGTTCCTGGTCTTCTGAGGGAGGAACTCCAGTCTTGTCCTCCTAGAATCTAAGACAAGGGGTCTGCAGGTTTGAATTCTATAAATTCACAGGCTGAGCACCTGTAAATTTGGATTTTTGGGGGCTGAGGGAGGATGGGACTGGGGGCCCAGGCTACTGGGCCCTCACGGCCCGCCACTCCCATGTCTAGATCAAGCTGTCTGTGCCCAAGGCTGGCGAGGGTCTGGGAACCTCATCGGGTGATGCCATATCAGGCACTGACCACAACAGCCTGGACTCGAGCCTGACTCGGGAGAAGATCGAGGCCAAGATTAAGGAGGTGGAGGAGAAGCAGCCGGAGATGAAGTCGGGTTTCATGGCCTCCTTCTTGGACTTCCTCAAGTCAGGCAAGCGCCACCCACCACTCTACCAGGCGGGCCTGACGCCTCCGCTCAGCCCTCCCAAGAGTGTGCCACCCTCTGTGCCAGCCCGAGGCCTGCAGCCCCAGCCCCCTGCCACCCCTGCTGTGCCACATCCCCCACCTTCCGGAGCCTTTGGGCTTGGGGGCGCCCTGGAGGCTGCAGAGAGTGN
|
pathogenic
| 307,859 |
A genetic alteration at chromosome 19, position 49830902, in gene MED25 (mediator complex subunit 25)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
CGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACCGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCACTGGGGGCCTGGACTCTTGGGTCTAAGCGGGGAGGCACTGGGGGCCTGGACTCAGACACAGAATAGTCACAGACTGGTGACCAGCTTTGCTTACTCTCTTTTCGAAACAGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCCCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCATGTTTCAGCCTCCCGAGTAGCTGGGATTATAGACGCCCGCCACCACGCCCAGCTGATTTTTGTATCTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGCTCTCAAACTCCTGGCCTCATGTGATCTGCCTGACTCGGTCTCACAAAATCCTGGGATTACAGACGTGAGCCTCCACACCTGGCCCACTTAGTCTTACTGACAAAACTAGAACCCAGAGTCTCCCGGGGCAGGTGATACCTGGTTTCAGGGTCTCCTGCCTCAAAGCCCAATGGGAATTGTGGTTGTAGGGCTGGTGCCGTCCAGCCACACAGCAGTTGTGGTAGGTTGGGGGCCGGCCCCAACACCCTTATGGAGGGGGCCCGTCATGACTGCTCGGCCCCTCTCCTACAGCGGGGGATCCACTTCTCCATTGTGTCTCCCCGGAAGCTGCCTGCGCTTCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGGAGCCGCTGCAGCCTCCGACAGATGTGAGCCAGGACCCGAGGCACATGGTGCTGGTTCGGGGACTCGTGCTGCCTGGTGAGGCCTGGGCACCGTGCGCGGGGATGGGGGCTCGACGTGTTTCCCCAGCTCCCTCTGACTTGGATTTTGGATTTCTCTCCTTTCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCAGATGCCTGAGATGAGGGTCTGGGGACAGAGTGGGGAGGCTCATGGCTCCAGGAGGGTCAGGGCTGTTCCGAGAAACCCAAGGAATCCCTGGGTCTGGGAGTCCAGGGCATCGCACAGCTTACGAGTCCTCGAATCCTGCAAGGTCCAAGCATTTGGGGTCCTGCGGCTGGCCAAGTGCTGTTCTGGGGATGGAGGGGCAGAAGAAGGGATCTTTCCTCCTTCCTGGTTTGCCCTCACAGGATGGCCCCCGGAGGCTCCCGGCCTTCCCCATTCTCATGGCCCTCCTTCCTCCCCTCTGGCAGGCAGGCACTGTGGCCCCAGGAGGGGTGAGCGGCCCTTCCCCAGCCCAGCTGGGAGCCCCAGCCCTCGGTGGGCAGCAGTCAGTCTCCAATAAGCTTCTGGCCTGGAGCGGGGTCCTGGAGTGGCAAGAGGTGAGGGGCCTGAGGGTCCATTGGGCACTTGGGACTCCTGGGGCCGTGGGGCTGGGCATGTAGGACTCATGGGGCCAGATGCGTGGGGTCTGCAGTGCTGGGTTTGGAGGCATTCGTTGCGCTGGACCTGTGGGATGCGGGGCGAGGCCAGGAGCCCCATGGAGTGGTGGGACTTGCGGTACAGAGGAGAGTCCCCATGCAAAGAACCCAGAAAAGCCCAGGATTTGGGGCCCAGAGAAGAGCCCAGGCGATGTATCATCTGGGGCACAGTGGATGGTGGGATTTAGGGGCCGGGCACGTAGCTGTAACATTTGAGGAACTGAAGGCTTGCTGGTCTGGAGGAGGGGCCTGGGGCTCATGGGACTTAAACTGGGGAACATCCTGAGCTTTGGGGCTACCAGGGTAGGACATGAGGGCTCAAGGGGACTGAGGCTTATGGCCCTTTTTACTGACATGCTCTTTTTTCCCCCTCAGAAACCCAAACCTGCCTCAGTGGATGCCAACACCAAGCTGACGCGGTCACTGCCCTGCCAGGTCTACGTGAATCATGGCGAGAACCTGTAGGTGACAGTCAGGGGCGGGGTGTGGTGGGGCTGGGGCTGGCCCCCTCCTCACACCTCTCCTGGCATCGCCCCCAGGAAGACGGAGCAGTGGCCCCAGAAGCTGATCATGCAGCTCATCCCCCAGCAGCTGCTGGTGAGTGGCGGTGGAGGGCCAGCCCTGCTGCCGGGCAGTCCTCACCCTGCTGTCTCTTTCCTGTTCCCTGCCCCACCCCCACTCCCTGCCTCATGTCCCCGCCTCACTTGCCCACACCAGCATGCCAGCCGACTTCTGTGTCTCCCGCAGACCACCCTGGGCCCTTTGTTCCGGAACTCAAGGATGGTCCAGTTCCATTTCACCAACAAGGACCTGGAGTCTCTCAAAGGCCTCTACCGCATCATGGGCAACGGCTTCGTGAGTCCAGGGCATGGGGGGCCGAGGGGTGTTGACTCTTGTCCTGCTTTCTGCTGACCTTTGACGGGAATCCCAGAGTGCCTGGGCCCACGGAAGCCGTTTTTGATGGTTGGGTGCACTTCATGCCCTTAGGTTCCTCGCCTTTCTTCTAGAGCCGTGACTTTTATTATAATCATCGTATGCACCAGATTTGAGGGATATTCCACATTAAAAATGTGAGCTGGATGTGACAGGATCAGTTAGGAGGAAGCTGTTGATTCTGGCATGGCTTTATGGGATGTGTTCATTTCCTGTGGCTGTGGTAACACATTACCACAAGCAGAGGGGCTTAAAACAACAGAAACGTGTTCTATCCCAGTTCTGGAGGCCAGAAGCCCAAGGTCAGGGTGTCAGCAGGGCCACGCTCTCTCTAGAGGCTGGAGGGAAGGCCTCTTCGTTGCCTCTTCCGGCCGGTAACCCCAGGCTTCAGGTGGCATCGCTCCAGGGTCTTCCTCCATCCCGCAGCTGTCTTCCCTCTGTGTGTGTCTCCACATG
|
CGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACCGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCACTGGGGGCCTGGACTCTTGGGTCTAAGCGGGGAGGCACTGGGGGCCTGGACTCAGACACAGAATAGTCACAGACTGGTGACCAGCTTTGCTTACTCTCTTTTCGAAACAGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCCCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCATGTTTCAGCCTCCCGAGTAGCTGGGATTATAGACGCCCGCCACCACGCCCAGCTGATTTTTGTATCTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGCTCTCAAACTCCTGGCCTCATGTGATCTGCCTGACTCGGTCTCACAAAATCCTGGGATTACAGACGTGAGCCTCCACACCTGGCCCACTTAGTCTTACTGACAAAACTAGAACCCAGAGTCTCCCGGGGCAGGTGATACCTGGTTTCAGGGTCTCCTGCCTCAAAGCCCAATGGGAATTGTGGTTGTAGGGCTGGTGCCGTCCAGCCACACAGCAGTTGTGGTAGGTTGGGGGCCGGCCCCAACACCCTTATGGAGGGGGCCCGTCATGACTGCTCGGCCCCTCTCCTACAGCGGGGGATCCACTTCTCCATTGTGTCTCCCCGGAAGCTGCCTGCGCTTCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGGAGCCGCTGCAGCCTCCGACAGATGTGAGCCAGGACCCGAGGCACATGGTGCTGGTTCGGGGACTCGTGCTGCCTGGTGAGGCCTGGGCACCGTGCGCGGGGATGGGGGCTCGACGTGTTTCCCCAGCTCCCTCTGACTTGGATTTTGGATTTCTCTCCTTTCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCAGATGCCTGAGATGAGGGTCTGGGGACAGAGTGGGGAGGCTCATGGCTCCAGGAGGGTCAGGGCTGTTCCGAGAAACCCAAGGAATCCCTGGGTCTGGGAGTCCAGGGCATCGCACAGCTTACGAGTCCTCGAATCCTGCAAGGTCCAAGCATTTGGGGTCCTGCGGCTGGCCAAGTGCTGTTCTGGGGATGGAGGGGCAGAAGAAGGGATCTTTCCTCCTTCCTGGTTTGCCCTCACAGGATGGCCCCCGGAGGCTCCCGGCCTTCCCCATTCTCATGGCCCTCCTTCCTCCCCTCTGGCAGGCAGGCACTGTGGCCCCAGGAGGGGTGAGCGGCCCTTCCCCAGCCCAGCTGGGAGCCCCAGCCCTCGGTGGGCAGCAGTCAGTCTCCAATAAGCTTCTGGCCTGGAGCGGGGTCCTGGAGTGGCAAGAGGTGAGGGGCCTGAGGGTCCATTGGGCACTTGGGACTCCTGGGGCCGTGGGGCTGGGCATGTAGGACTCATGGGGCCAGATGCGTGGGGTCTGCAGTGCTGGGTTTGGAGGCATTCGTTGCGCTGGACCTGTGGGATGCGGGGCGAGGCCAGGAGCCCCATGGAGTGGTGGGACTTGCGGTACAGAGGAGAGTCCCCATGCAAAGAACCCAGAAAAGCCCAGGATTTGGGGCCCAGAGAAGAGCCCAGGCGATGTATCATCTGGGGCACAGTGGATGGTGGGATTTAGGGGCCGGGCACGTAGCTGTAACATTTGAGGAACTGAAGGCTTGCTGGTCTGGAGGAGGGGCCTGGGGCTCATGGGACTTAAACTGGGGAACATCCTGAGCTTTGGGGCTACCAGGGTAGGACATGAGGGCTCAAGGGGACTGAGGCTTATGGCCCTTTTTACTGACATGCTCTTTTTTCCCCCTCAGAAACCCAAACCTGCCTCAGTGGATGCCAACACCAAGCTGACGCGGTCACTGCCCTGCCAGGTCTACGTGAATCATGGCGAGAACCTGTAGGTGACAGTCAGGGGCGGGGTGTGGTGGGGCTGGGGCTGGCCCCCTCCTCACACCTCTCCTGGCATCGCCCCCAGGAAGACGGAGCAGTGGCCCCAGAAGCTGATCATGCAGCTCATCCCCCAGCAGCTGCTGGTGAGTGGCGGTGGAGGGCCAGCCCTGCTGCCGGGCAGTCCTCACCCTGCTGTCTCTTTCCTGTTCCCTGCCCCACCCCCACTCCCTGCCTCATGTCCCCGCCTCACTTGCCCACACCAGCATGCCAGCCGACTTCTGTGTCTCCCGCAGACCACCCTGGGCCCTTTGTTCCGGAACTCAAGGATGGTCCAGTTCCATTTCACCAACAAGGACCTGGAGTCTCTCAAAGGCCTCTACCGCATCATGGGCAACGGCTTCGTGAGTCCAGGGCATGGGGGGCCGAGGGGTGTTGACTCTTGTCCTGCTTTCTGCTGACCTTTGACGGGAATCCCAGAGTGCCTGGGCCCACGGAAGCCGTTTTTGATGGTTGGGTGCACTTCATGCCCTTAGGTTCCTCGCCTTTCTTCTAGAGCCGTGACTTTTATTATAATCATCGTATGCACCAGATTTGAGGGATATTCCACATTAAAAATGTGAGCTGGATGTGACAGGATCAGTTAGGAGGAAGCTGTTGATTCTGGCATGGCTTTATGGGATGTGTTCATTTCCTGTGGCTGTGGTAACACATTACCACAAGCAGAGGGGCTTAAAACAACAGAAACGTGTTCTATCCCAGTTCTGGAGGCCAGAAGCCCAAGGTCAGGGTGTCAGCAGGGCCACGCTCTCTCTAGAGGCTGGAGGGAAGGCCTCTTCGTTGCCTCTTCCGGCCGGTAACCCCAGGCTTCAGGTGGCATCGCTCCAGGGTCTTCCTCCATCCCGCAGCTGTCTTCCCT
|
benign
| 308,012 |
Is the genetic mutation found on chromosome 19 at position 49832082, within the gene MED25, considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
TCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCAGATGCCTGAGATGAGGGTCTGGGGACAGAGTGGGGAGGCTCATGGCTCCAGGAGGGTCAGGGCTGTTCCGAGAAACCCAAGGAATCCCTGGGTCTGGGAGTCCAGGGCATCGCACAGCTTACGAGTCCTCGAATCCTGCAAGGTCCAAGCATTTGGGGTCCTGCGGCTGGCCAAGTGCTGTTCTGGGGATGGAGGGGCAGAAGAAGGGATCTTTCCTCCTTCCTGGTTTGCCCTCACAGGATGGCCCCCGGAGGCTCCCGGCCTTCCCCATTCTCATGGCCCTCCTTCCTCCCCTCTGGCAGGCAGGCACTGTGGCCCCAGGAGGGGTGAGCGGCCCTTCCCCAGCCCAGCTGGGAGCCCCAGCCCTCGGTGGGCAGCAGTCAGTCTCCAATAAGCTTCTGGCCTGGAGCGGGGTCCTGGAGTGGCAAGAGGTGAGGGGCCTGAGGGTCCATTGGGCACTTGGGACTCCTGGGGCCGTGGGGCTGGGCATGTAGGACTCATGGGGCCAGATGCGTGGGGTCTGCAGTGCTGGGTTTGGAGGCATTCGTTGCGCTGGACCTGTGGGATGCGGGGCGAGGCCAGGAGCCCCATGGAGTGGTGGGACTTGCGGTACAGAGGAGAGTCCCCATGCAAAGAACCCAGAAAAGCCCAGGATTTGGGGCCCAGAGAAGAGCCCAGGCGATGTATCATCTGGGGCACAGTGGATGGTGGGATTTAGGGGCCGGGCACGTAGCTGTAACATTTGAGGAACTGAAGGCTTGCTGGTCTGGAGGAGGGGCCTGGGGCTCATGGGACTTAAACTGGGGAACATCCTGAGCTTTGGGGCTACCAGGGTAGGACATGAGGGCTCAAGGGGACTGAGGCTTATGGCCCTTTTTACTGACATGCTCTTTTTTCCCCCTCAGAAACCCAAACCTGCCTCAGTGGATGCCAACACCAAGCTGACGCGGTCACTGCCCTGCCAGGTCTACGTGAATCATGGCGAGAACCTGTAGGTGACAGTCAGGGGCGGGGTGTGGTGGGGCTGGGGCTGGCCCCCTCCTCACACCTCTCCTGGCATCGCCCCCAGGAAGACGGAGCAGTGGCCCCAGAAGCTGATCATGCAGCTCATCCCCCAGCAGCTGCTGGTGAGTGGCGGTGGAGGGCCAGCCCTGCTGCCGGGCAGTCCTCACCCTGCTGTCTCTTTCCTGTTCCCTGCCCCACCCCCACTCCCTGCCTCATGTCCCCGCCTCACTTGCCCACACCAGCATGCCAGCCGACTTCTGTGTCTCCCGCAGACCACCCTGGGCCCTTTGTTCCGGAACTCAAGGATGGTCCAGTTCCATTTCACCAACAAGGACCTGGAGTCTCTCAAAGGCCTCTACCGCATCATGGGCAACGGCTTCGTGAGTCCAGGGCATGGGGGGCCGAGGGGTGTTGACTCTTGTCCTGCTTTCTGCTGACCTTTGACGGGAATCCCAGAGTGCCTGGGCCCACGGAAGCCGTTTTTGATGGTTGGGTGCACTTCATGCCCTTAGGTTCCTCGCCTTTCTTCTAGAGCCGTGACTTTTATTATAATCATCGTATGCACCAGATTTGAGGGATATTCCACATTAAAAATGTGAGCTGGATGTGACAGGATCAGTTAGGAGGAAGCTGTTGATTCTGGCATGGCTTTATGGGATGTGTTCATTTCCTGTGGCTGTGGTAACACATTACCACAAGCAGAGGGGCTTAAAACAACAGAAACGTGTTCTATCCCAGTTCTGGAGGCCAGAAGCCCAAGGTCAGGGTGTCAGCAGGGCCACGCTCTCTCTAGAGGCTGGAGGGAAGGCCTCTTCGTTGCCTCTTCCGGCCGGTAACCCCAGGCTTCAGGTGGCATCGCTCCAGGGTCTTCCTCCATCCCGCAGCTGTCTTCCCTCTGTGTGTGTCTCCACATGGCATTCTCTCTGTATCTTTGTGTCTGTGCTTATAAGGACATCAGTAATTTTGGATTAGGCCCCATTTTCCTGACCTCATCTTACTACAATTGCAAAGACCCTCTTTCCAGATAGAGTCACCTTCACAGGTGCTGGGGACTGGAACCTCAGCTTAGCTTTCTGGTTTTGTTTTTTGAGACAGAGTTTCACTGTTGTCAGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACAGCAACTTCCGTCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACTATGCCCAGCTAATTTCTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTTCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACCGGTGTGAGCCACCGCGCCCAGCCTCAGCATAGCTTTCTGGGAGTCACAGTTCACACTTTGTAACTCGGGGAAGGAGCAGATCAGTTACTTCCGTGCACCAGGCACTCCTGCAGGAAAGAGAACCTTAGGGGGATCACCTCACGAGACCCTCACAGAACCTTGTGAAGAAGGCATTCCTGAGAGTTAGTACTTCCGGCTGCAAATCACGTAGTTTCCCAAACACATAGATAATTGGGGGCACTCGGAAAAAATGTTCTCTTATGATTCTGTGGGTCACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGGACAGGGCCCTGTGGTTCTCTTGGCCTCTCCTTTATAGTCACAAGGTAGCTCTCATGGCTCCACGCATCCTGTGTGCTTTCATGAAGGAGGGGAAGGGGGCTGTGTGTTTCCCTTTCTTCAAGACAGCAGAAACTTTCTCAGATTCCAGAGC
|
TCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCAGATGCCTGAGATGAGGGTCTGGGGACAGAGTGGGGAGGCTCATGGCTCCAGGAGGGTCAGGGCTGTTCCGAGAAACCCAAGGAATCCCTGGGTCTGGGAGTCCAGGGCATCGCACAGCTTACGAGTCCTCGAATCCTGCAAGGTCCAAGCATTTGGGGTCCTGCGGCTGGCCAAGTGCTGTTCTGGGGATGGAGGGGCAGAAGAAGGGATCTTTCCTCCTTCCTGGTTTGCCCTCACAGGATGGCCCCCGGAGGCTCCCGGCCTTCCCCATTCTCATGGCCCTCCTTCCTCCCCTCTGGCAGGCAGGCACTGTGGCCCCAGGAGGGGTGAGCGGCCCTTCCCCAGCCCAGCTGGGAGCCCCAGCCCTCGGTGGGCAGCAGTCAGTCTCCAATAAGCTTCTGGCCTGGAGCGGGGTCCTGGAGTGGCAAGAGGTGAGGGGCCTGAGGGTCCATTGGGCACTTGGGACTCCTGGGGCCGTGGGGCTGGGCATGTAGGACTCATGGGGCCAGATGCGTGGGGTCTGCAGTGCTGGGTTTGGAGGCATTCGTTGCGCTGGACCTGTGGGATGCGGGGCGAGGCCAGGAGCCCCATGGAGTGGTGGGACTTGCGGTACAGAGGAGAGTCCCCATGCAAAGAACCCAGAAAAGCCCAGGATTTGGGGCCCAGAGAAGAGCCCAGGCGATGTATCATCTGGGGCACAGTGGATGGTGGGATTTAGGGGCCGGGCACGTAGCTGTAACATTTGAGGAACTGAAGGCTTGCTGGTCTGGAGGAGGGGCCTGGGGCTCATGGGACTTAAACTGGGGAACATCCTGAGCTTTGGGGCTACCAGGGTAGGACATGAGGGCTCAAGGGGACTGAGGCTTATGGCCCTTTTTACTGACATGCTCTTTTTTCCCCCTCAGAAACCCAAACCTGCCTCAGTGGATGCCAACACCAAGCTGACGCGGTCACTGCCCTGCCAGGTCTACGTGAATCATGGCGAGAACCTGTAGGTGACAGTCAGGGGCGGGGTGTGGTGGGGCTGGGGCTGGCCCCCTCCTCACACCTCTCTGGCATCGCCCCCAGGAAGACGGAGCAGTGGCCCCAGAAGCTGATCATGCAGCTCATCCCCCAGCAGCTGCTGGTGAGTGGCGGTGGAGGGCCAGCCCTGCTGCCGGGCAGTCCTCACCCTGCTGTCTCTTTCCTGTTCCCTGCCCCACCCCCACTCCCTGCCTCATGTCCCCGCCTCACTTGCCCACACCAGCATGCCAGCCGACTTCTGTGTCTCCCGCAGACCACCCTGGGCCCTTTGTTCCGGAACTCAAGGATGGTCCAGTTCCATTTCACCAACAAGGACCTGGAGTCTCTCAAAGGCCTCTACCGCATCATGGGCAACGGCTTCGTGAGTCCAGGGCATGGGGGGCCGAGGGGTGTTGACTCTTGTCCTGCTTTCTGCTGACCTTTGACGGGAATCCCAGAGTGCCTGGGCCCACGGAAGCCGTTTTTGATGGTTGGGTGCACTTCATGCCCTTAGGTTCCTCGCCTTTCTTCTAGAGCCGTGACTTTTATTATAATCATCGTATGCACCAGATTTGAGGGATATTCCACATTAAAAATGTGAGCTGGATGTGACAGGATCAGTTAGGAGGAAGCTGTTGATTCTGGCATGGCTTTATGGGATGTGTTCATTTCCTGTGGCTGTGGTAACACATTACCACAAGCAGAGGGGCTTAAAACAACAGAAACGTGTTCTATCCCAGTTCTGGAGGCCAGAAGCCCAAGGTCAGGGTGTCAGCAGGGCCACGCTCTCTCTAGAGGCTGGAGGGAAGGCCTCTTCGTTGCCTCTTCCGGCCGGTAACCCCAGGCTTCAGGTGGCATCGCTCCAGGGTCTTCCTCCATCCCGCAGCTGTCTTCCCTCTGTGTGTGTCTCCACATGGCATTCTCTCTGTATCTTTGTGTCTGTGCTTATAAGGACATCAGTAATTTTGGATTAGGCCCCATTTTCCTGACCTCATCTTACTACAATTGCAAAGACCCTCTTTCCAGATAGAGTCACCTTCACAGGTGCTGGGGACTGGAACCTCAGCTTAGCTTTCTGGTTTTGTTTTTTGAGACAGAGTTTCACTGTTGTCAGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACAGCAACTTCCGTCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACTATGCCCAGCTAATTTCTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTTCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACCGGTGTGAGCCACCGCGCCCAGCCTCAGCATAGCTTTCTGGGAGTCACAGTTCACACTTTGTAACTCGGGGAAGGAGCAGATCAGTTACTTCCGTGCACCAGGCACTCCTGCAGGAAAGAGAACCTTAGGGGGATCACCTCACGAGACCCTCACAGAACCTTGTGAAGAAGGCATTCCTGAGAGTTAGTACTTCCGGCTGCAAATCACGTAGTTTCCCAAACACATAGATAATTGGGGGCACTCGGAAAAAATGTTCTCTTATGATTCTGTGGGTCACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGGACAGGGCCCTGTGGTTCTCTTGGCCTCTCCTTTATAGTCACAAGGTAGCTCTCATGGCTCCACGCATCCTGTGTGCTTTCATGAAGGAGGGGAAGGGGGCTGTGTGTTTCCCTTTCTTCAAGACAGCAGAAACTTTCTCAGATTCCAGAGCN
|
benign
| 308,018 |
Chromosome 19, position 49835707, gene MED25 (mediator complex subunit 25): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
CACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGGACAGGGCCCTGTGGTTCTCTTGGCCTCTCCTTTATAGTCACAAGGTAGCTCTCATGGCTCCACGCATCCTGTGTGCTTTCATGAAGGAGGGGAAGGGGGCTGTGTGTTTCCCTTTCTTCAAGACAGCAGAAACTTTCTCAGATTCCAGAGCAGGCATTCCTTTCACCTCCTATCCCGGACCTAGGCCACTGGGCAGCCCCTAGTTGATGGGAGGCTGCTGGGAGCAGGTATCCGTGACTGTCTGGGGCTGGGACATGTTACAGCCCCAGACAGCATTGGGAATGCAGGGGAGGAGGACACTTGGATATGGAATAGGCAGCTAGCAGGGTCTGTCTCAGGCAGGAAACCGAGGCTCAGAGAAGTCAATTCACTTGGCCAAGGTCAGCCTCGCCTCCCTCAGGAGCCCCTGCCCTGAATGCTCCATGTGTTACCCCCCTGATGACCAGTGATGTTTCCTGGGTGCTTCCTGTGGGCTGAGCCTCAGGCAGGGCTCTTGCTGTGGATCAGACATCGCATAGTCACAGCGACCCTGTGATGTGGGAGCACTCCCCGTGGTGTACACTGGCCGGTGCTGAGGGCTGGAGGATCTCTTGGATACCCGGGGTCCGACCCACCGTTGATCACAGGCCTGTGGGTACCACGCTGTGCATCTAGGCCGCTCTCCCGGCCGTGACCCTCAGCCGCCCTCTGAGGAGGCCGCCGTGGCATTTTATGCCCAAGAAACTGGGTCCATGAGGAGCAGGTGGTGGCTGAAGGTTGAAGAGCTGGGCTCCAGCACTTTCTCTCCGCTTTCCCTCTCAGTGGGCAGCTGGAACCCTAGCTTGCCCTGAGCGCCTCAGTTTCTGTCTCCAGAGCAACCCATAGCACACCTGTTCTCCTTAACCTTCTATAGCAGAAACCTCACCTCACCTTGCCTGTGGGGCCTCTAGAGCCTTCTGGAATGGGGAGGGGGTCAGGGCTGCCTCTTTCAGGGCCTGAATGGTTCTGAAGAGCTGTTGTCCACCCAGGCGGGCTGCGTGCACTTCCCCCACACGGCGCCCTGTGAGGTGCGCGTGCTCATGCTCCTGTACTCGTCCAAGAAGAAGATCTTCATGGGCCTCATCCCCTACGACCAGAGCGGCTTCGTCAACGGCATCCGGCAGGTCATCACCAACCACAAGCAGGTCCAGCAGCAGAAGCTGGAGCAGCAGCAGCGAGGAGTGAGTGTTGACAGTCCCCAAACCAGCACTCCGACCCCCTCCTGCCCGGGCCCCACATGGCCCCCTGGGGTCTCCAGGACCAAGATGCCCACCCTTCTCCCAATATGTGGTGCCTCCAAGCTAAGTCCCACTCAGATTTTCTTGCAGTCTCTCTCCTTTTTCAGCATCCACATCAAAGCCCTGACACAGCTTCCTCCTGGAGACCTTGGAGTGTACGGCATCCCTCCCAGACCACTCACCCCCAAAGAGAATGTCCCCATCTCCTTACTAGTTCCCCTCAGGGCACAGGCCCTCCCGCCTCAGATTCAGGATGCCACCACCCTCAGTTACTGACCTGCCCCTCTCTCCCCGTGCAGATGGGGGGACAGCAGGCACCCCCAGGGCTGGGGCCCATTCTGGAGGACCAAGCCAGGCCCTCACAGAATCTGGTGAGGACAGGGCTGGCGGGGTCGGGGCTGGGTTGGGGAGGCCCCAAGGCTGCGCTCTGTGCCTGCAGAAGGGGCGTGAGGCCCTGCCCATCTCCCTCACCCCTGTGTCTCTTCCCACCAGCTCCAGCTCCGCCCACCGCAGCCCCAGCCTCAGGGTACCGTAGGGGCCTCTGGGGCCACGGGGCAGCCCCAGCCCCAAGGTACTGCCCAGCCCCCGCCAGGTGCCCCTCAAGGCCCTCCTGGAGCAGCTTCTGGCCCACCCCCTCCTGGACCCATCCTTCGGCCCCAGAACCCTGGGGCCAACCCTCAGCTGCGAAGCCTCCTCCTCAACCCACCACCGGTGAGATGTTGGGGTGGGGTAGCGAGAGTTCCAGATCCTGGCCCTGGTGGTTCTGGTCCTGTTGTCTGGGAGGAGGGAGGTTGACTGTGGTCAGTGGGTGTGAATGGGGACCCGCCCAGGGCTTTAGGCAGAAGGCAGACCGCCTCCTCTCCGTCCATCCCCCACCTTTGAAGAAAAACTTCCCCTCACCACTAGCTGATTCCATCTCTGAGCAGTGTCTGTGTTGAGAGGTGGGGAGTCTCTACCAGGAGCCTCTGAGCCACTCTCTGTGTTCTCCCAGCCGCAGACTGGGGTGCCCCCACCCCAGGCCTCCCTCCACCACCTCCAGCCACCAGGGGCTCCTGCGCTGCTGCCTCCGCCGCACCAGGGCCTGGGGCAGCCCCAGTTGGGGCCCCCACTCCTGCATCCACCACCTGCCCAGTCCTGGCCCGCACAACTTCCCCCTCGGGCTCCACTGCCAGGTAAGGGGACCCGGGGGAGGGCAGAGGTCTGGACTGAGTGTCCCAGCAGCTCCTGGGCTAGAGCACCAAGACCGAGTGCTCCTGGGAAGTAAAGACATAGGATCCAAGAATGAGGGTTCCCCCATGGCCTTTGCGGAGCTCTGAGGGCTCCGGGAAAGTACAGCCCATGGGTCCAAGGACCTAGTGGGTTAAGAGCGTTTCCCATGATCCTCCTGTGTGTGCTCCTGGGATTGCTGGGAAATGTGGTCTTAGGGCCAGAGAAGTAGTTTTGGAGAAGGGCCCCCAAAGGCTCATGGGAAACAGCATATTTGTAACTAGATGGGGCCAGAAGGTGCTTCTGTTGGGTCCCCCAAGGGCTGCCTAGAAAACTTAGTGCCTCTGGGCCCTCCTGGGCCCAAGGGCCTACTGGGAGATGCAGTCCCTTCCCCACTGCCCCTCAGGTCAGATGCTGCTGAGCGGGGGTCCCCGGGGCCCGGTCCCCCAGCCGGGCCTGCAGCCCAGCGTCATGGAGGACGACATCCTCATGGATCTCATCTGAATCCCCAACACCCAATAAAGTTCCTTTTTAACACACGCCCCGGCTCCCGTCACTGACATCCCTCAGGACTGGGCAGGAGGAAACCCCAGGGGGCATCTCTGTCCTTGTTCTCACTTCAGCAGACATCCCTGGGGCCCTGGGTGAATGACGCTGGGGCCTCCGTGGTGAGTCACAGGCAGTCTGGTGCAACCTGATTCGTGGGAGATGCAGGGACAGGCAGGCAGCGCTCAGGACTCAAGCTCTCATGGAGGTGGCAGGGGCACCATGGGAGCCTGGAAGAGGCATCTGACCCAGCCCCAGCTCCTCAGAGTCTTGAAAGAGAATCAGCCGTCAGGCTGGGAGGGAAGGAGGTGAGGGGTGATCTGGGTGCAGAGGACAACAGAAACTTTGAATACTCAAAGGCAGGAGGAAGCCTGAGACATTGAGAGGAGCAAGTTGATGGATGCTTTTGGAGCATGAGCATGTAGGGAGCTAGAGAGATGGGCAGGTGCAGAGTTTGAGGAGCTCGGATTCCAAACTGAGCAGCCCATGGTTTGTCCTGGGGACACAGGAGAACCAGGAGGCTTTGAGCAGTGGGGCGGGCCTAGGCCAGCTCTGGATGTCAGAAAGACCCCTCTCAGCTGTAGAGCGTGATGAGGCCAGACAGGAGGCCAGGAAAGGTGAGGCTGGGTGGTGGCGGTGTCGGGGGCTGGGGTAGAGGTTCGCTCCCGGGGGCCAGGCCTACGTGATGGTAGGTGGTGGGGCTCCTGGGAGAAGGAGCTGGTAGTAAGTGCAGGTGGTCCAAGGGACATCCAGGTGACAGGTGCCATG
|
CACCTGGGCTCAGTGGGCCATCTCGCTTGGCGACTCTCACGGGGTTGCCATCAGATGGCAGCTGAGACTCTGGTCATCTGAAACCTTTACTGGGCTGGATGTTCAAAACAGCTCCTCACACAGCCCTGGCTGTTGGCTGGGGCTTGGCTAGGACCGGCCATCCCAGTGTCTGCACATGGCCTGTCCACGTGGCCACACTGTGGCAGCTGGGTTCTGAGAGGGCAGGCGTTGTAGGAGCAGGCATTTATATTTTGCACAGGACAGGACATCTAGAGGGGGCCAGCTATTGGGATTGGTTTCATAGGTCTGTGACATCAGGGACAGGGCCCTGTGGTTCTCTTGGCCTCTCCTTTATAGTCACAAGGTAGCTCTCATGGCTCCACGCATCCTGTGTGCTTTCATGAAGGAGGGGAAGGGGGCTGTGTGTTTCCCTTTCTTCAAGACAGCAGAAACTTTCTCAGATTCCAGAGCAGGCATTCCTTTCACCTCCTATCCCGGACCTAGGCCACTGGGCAGCCCCTAGTTGATGGGAGGCTGCTGGGAGCAGGTATCCGTGACTGTCTGGGGCTGGGACATGTTACAGCCCCAGACAGCATTGGGAATGCAGGGGAGGAGGACACTTGGATATGGAATAGGCAGCTAGCAGGGTCTGTCTCAGGCAGGAAACCGAGGCTCAGAGAAGTCAATTCACTTGGCCAAGGTCAGCCTCGCCTCCCTCAGGAGCCCCTGCCCTGAATGCTCCATGTGTTACCCCCCTGATGACCAGTGATGTTTCCTGGGTGCTTCCTGTGGGCTGAGCCTCAGGCAGGGCTCTTGCTGTGGATCAGACATCGCATAGTCACAGCGACCCTGTGATGTGGGAGCACTCCCCGTGGTGTACACTGGCCGGTGCTGAGGGCTGGAGGATCTCTTGGATACCCGGGGTCCGACCCACCGTTGATCACAGGCCTGTGGGTACCACGCTGTGCATCTAGGCCGCTCTCCCGGCCGTGACCCTCAGCCGCCCTCTGAGGAGGCCGCCGTGGCATTTTATGCCCAAGAAACTGGGTCCATGAGGAGCAGGTGGTGGCTGAAGGTTGAAGAGCTGGGCTCCAGCACTTTCTCTCCGCTTTCCCTCTCAGTGGGCAGCTGGAACCCTAGCTTGCCCTGAGCGCCTCAGTTTCTGTCTCCAGAGCAACCCATAGCACACCTGTTCTCCTTAACCTTCTATAGCAGAAACCTCACCTCACCTTGCCTGTGGGGCCTCTAGAGCCTTCTGGAATGGGGAGGGGGTCAGGGCTGCCTCTTTCAGGGCCTGAATGGTTCTGAAGAGCTGTTGTCCACCCAGGCGGGCTGCGTGCACTTCCCCCACACGGCGCCCTGTGAGGTGCGCGTGCTCATGCTCCTGTACTCGTCCAAGAAGAAGATCTTCATGGGCCTCATCCCCTACGACCAGAGCGGCTTCGTCAACGGCATCCGGCAGGTCATCACCAACCACAAGCAGGTCCAGCAGCAGAAGCTGGAGCAGCAGCAGCGAGGAGTGAGTGTTGACAGTCCCCAAACCAGCACTCCGACCCCCTCCTGCCCGGGCCCCACATGGCCCCCTGGGGTCTCCAGGACCAAGATGCCCACCCTTCTCCCAATATGTGGTGCCTCCAAGCTAAGTCCCACTCAGATTTTCTTGCAGTCTCTCTCCTTTTTCAGCATCCACATCAAAGCCCTGACACAGCTTCCTCCTGGAGACCTTGGAGTGTACGGCATCCCTCCCAGACCACTCACCCCCAAAGAGAATGTCCCCATCTCCTTACTAGTTCCCCTCAGGGCACAGGCCCTCCCGCCTCAGATTCAGGATGCCACCACCCTCAGTTACTGACCTGCCCCTCTCTCCCCGTGCAGATGGGGGGACAGCAGGCACCCCCAGGGCTGGGGCCCATTCTGGAGGACCAAGCCAGGCCCTCACAGAATCTGGTGAGGACAGGGCTGGCGGGGTCGGGGCTGGGTTGGGGAGGCCCCAAGGCTGCGCTCTGTGCCTGCAGAAGGGGCGTGAGGCCCTGCCCATCTCCCTCACCCGTGTCTCTTCCCACCAGCTCCAGCTCCGCCCACCGCAGCCCCAGCCTCAGGGTACCGTAGGGGCCTCTGGGGCCACGGGGCAGCCCCAGCCCCAAGGTACTGCCCAGCCCCCGCCAGGTGCCCCTCAAGGCCCTCCTGGAGCAGCTTCTGGCCCACCCCCTCCTGGACCCATCCTTCGGCCCCAGAACCCTGGGGCCAACCCTCAGCTGCGAAGCCTCCTCCTCAACCCACCACCGGTGAGATGTTGGGGTGGGGTAGCGAGAGTTCCAGATCCTGGCCCTGGTGGTTCTGGTCCTGTTGTCTGGGAGGAGGGAGGTTGACTGTGGTCAGTGGGTGTGAATGGGGACCCGCCCAGGGCTTTAGGCAGAAGGCAGACCGCCTCCTCTCCGTCCATCCCCCACCTTTGAAGAAAAACTTCCCCTCACCACTAGCTGATTCCATCTCTGAGCAGTGTCTGTGTTGAGAGGTGGGGAGTCTCTACCAGGAGCCTCTGAGCCACTCTCTGTGTTCTCCCAGCCGCAGACTGGGGTGCCCCCACCCCAGGCCTCCCTCCACCACCTCCAGCCACCAGGGGCTCCTGCGCTGCTGCCTCCGCCGCACCAGGGCCTGGGGCAGCCCCAGTTGGGGCCCCCACTCCTGCATCCACCACCTGCCCAGTCCTGGCCCGCACAACTTCCCCCTCGGGCTCCACTGCCAGGTAAGGGGACCCGGGGGAGGGCAGAGGTCTGGACTGAGTGTCCCAGCAGCTCCTGGGCTAGAGCACCAAGACCGAGTGCTCCTGGGAAGTAAAGACATAGGATCCAAGAATGAGGGTTCCCCCATGGCCTTTGCGGAGCTCTGAGGGCTCCGGGAAAGTACAGCCCATGGGTCCAAGGACCTAGTGGGTTAAGAGCGTTTCCCATGATCCTCCTGTGTGTGCTCCTGGGATTGCTGGGAAATGTGGTCTTAGGGCCAGAGAAGTAGTTTTGGAGAAGGGCCCCCAAAGGCTCATGGGAAACAGCATATTTGTAACTAGATGGGGCCAGAAGGTGCTTCTGTTGGGTCCCCCAAGGGCTGCCTAGAAAACTTAGTGCCTCTGGGCCCTCCTGGGCCCAAGGGCCTACTGGGAGATGCAGTCCCTTCCCCACTGCCCCTCAGGTCAGATGCTGCTGAGCGGGGGTCCCCGGGGCCCGGTCCCCCAGCCGGGCCTGCAGCCCAGCGTCATGGAGGACGACATCCTCATGGATCTCATCTGAATCCCCAACACCCAATAAAGTTCCTTTTTAACACACGCCCCGGCTCCCGTCACTGACATCCCTCAGGACTGGGCAGGAGGAAACCCCAGGGGGCATCTCTGTCCTTGTTCTCACTTCAGCAGACATCCCTGGGGCCCTGGGTGAATGACGCTGGGGCCTCCGTGGTGAGTCACAGGCAGTCTGGTGCAACCTGATTCGTGGGAGATGCAGGGACAGGCAGGCAGCGCTCAGGACTCAAGCTCTCATGGAGGTGGCAGGGGCACCATGGGAGCCTGGAAGAGGCATCTGACCCAGCCCCAGCTCCTCAGAGTCTTGAAAGAGAATCAGCCGTCAGGCTGGGAGGGAAGGAGGTGAGGGGTGATCTGGGTGCAGAGGACAACAGAAACTTTGAATACTCAAAGGCAGGAGGAAGCCTGAGACATTGAGAGGAGCAAGTTGATGGATGCTTTTGGAGCATGAGCATGTAGGGAGCTAGAGAGATGGGCAGGTGCAGAGTTTGAGGAGCTCGGATTCCAAACTGAGCAGCCCATGGTTTGTCCTGGGGACACAGGAGAACCAGGAGGCTTTGAGCAGTGGGGCGGGCCTAGGCCAGCTCTGGATGTCAGAAAGACCCCTCTCAGCTGTAGAGCGTGATGAGGCCAGACAGGAGGCCAGGAAAGGTGAGGCTGGGTGGTGGCGGTGTCGGGGGCTGGGGTAGAGGTTCGCTCCCGGGGGCCAGGCCTACGTGATGGTAGGTGGTGGGGCTCCTGGGAGAAGGAGCTGGTAGTAAGTGCAGGTGGTCCAAGGGACATCCAGGTGACAGGTGCCATGNN
|
benign
| 308,035 |
Does the chromosome 19 mutation at position 49861542 within gene PNKP (polynucleotide kinase 3'-phosphatase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Microcephaly,_seizures,_and_developmental_delay', 'PNKP-related_disorder']
|
CCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGTACTCCAGCCTGGGCGACAAGAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAGTTTCCTCAAGGAAACCCAGAAAGGCTCCATGTACCTCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGG
|
CCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGTACTCCAGCCTGGGCGACAAGAGCGAAACTCAGTCTCAAAAAAAAAAAAAAAGTTTCCTCAAGGAAACCCAGAAAGGCTCCATGTACCTCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGNNNNNNNNNNNNNNNNN
|
pathogenic
| 308,060 |
Gene mutation in PNKP (polynucleotide kinase 3'-phosphatase) at chromosome 19, position 49861672—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Charcot-Marie-Tooth_disease_type_2B2', 'Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases']
|
TCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTC
|
TCAGCCCTTGCTTGTGCTGGGCCGGCCGCTGCAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGC
|
pathogenic
| 308,069 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 49861703, gene PNKP (polynucleotide kinase 3'-phosphatase). What disease(s) is it linked to if pathogenic?
|
benign
|
CAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGG
|
CAGATCCCTCGGGCTCCTGAGTTGAAGCCATGGCCGGTTGGCTCAGGTGGCTGTGGTGAGGTGGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGAAAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGG
|
benign
| 308,074 |
Clinically, how would you classify the variant at chromosome 19, position 49861765, gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGG
|
GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTC
|
benign
| 308,078 |
Assess the variant on chromosome 19, position 49861765, impacting PNKP (polynucleotide kinase 3'-phosphatase): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia', 'Developmental_and_epileptic_encephalopathy,_12', 'Microcephaly,_seizures,_and_developmental_delay', 'PNKP-related_disorder']
|
GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGG
|
GGCCCCAGACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGNNNNNNNNNN
|
pathogenic
| 308,079 |
Classify the chromosome 19 variant at position 49861773 affecting gene PNKP (polynucleotide kinase 3'-phosphatase) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12']
|
ACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACC
|
ACACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCNNNNNNNNNNNNNN
|
pathogenic
| 308,080 |
Does the genetic variant at chromosome 19, position 49861775, impacting gene PNKP (polynucleotide kinase 3'-phosphatase), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases']
|
ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCC
|
ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATG
|
pathogenic
| 308,081 |
For chromosome 19, position 49861775, gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12']
|
ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCC
|
ACAGCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCNNNNNNN
|
pathogenic
| 308,082 |
Does the genetic variant at chromosome 19, position 49861778, impacting gene PNKP (polynucleotide kinase 3'-phosphatase), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases']
|
GCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGC
|
GCCTGGCCTGCCCAGGAGCTCTGAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCNNNNNNNNNNNNNN
|
pathogenic
| 308,084 |
A genetic variant on chromosome 19, position 49861800, affects the gene PNKP (polynucleotide kinase 3'-phosphatase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Abnormality_of_the_nervous_system', 'Ataxia_-_oculomotor_apraxia_type_4', 'Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Microcephaly,_seizures,_and_developmental_delay']
|
GAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATG
|
GAAATGCAGGTTCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGA
|
pathogenic
| 308,087 |
Evaluate if the mutation on chromosome 19 at position 49861811 in PNKP (polynucleotide kinase 3'-phosphatase) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Abnormality_of_the_nervous_system', 'Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases']
|
TCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCA
|
TCTTGGGCCCTTCCCGACAGAGCCTGTTGGCCTTTGGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCT
|
pathogenic
| 308,088 |
Does the variant impacting PNKP (polynucleotide kinase 3'-phosphatase) on chromosome 19, position 49861846, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Ataxia_-_oculomotor_apraxia_type_4', 'Charcot-Marie-Tooth_disease_type_2B2', 'Developmental_and_epileptic_encephalopathy,_12', 'Microcephaly,_seizures,_and_developmental_delay']
|
GGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACC
|
GGCCCACCCATTGCTCTTGGCCACCGTGTCATCCCAATAAGGGGGCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCNNN
|
pathogenic
| 308,092 |
Mutation at chromosome 19, position 49861890, within PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
GCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATA
|
GCCCACCTCCAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACAGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAN
|
benign
| 308,096 |
Determine whether the variant at chromosome 19, position 49861899, in gene PNKP (polynucleotide kinase 3'-phosphatase) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
CAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGC
|
CAGGGTGGGTGGGGGGTGTGAGGACAGAGCAGTTAGGCTGTGCCTGGCTCATGGAGCCCACGGCATGATGCCGTGGTTGGAGGGATGCTGGTCCCTGTGGTGCTGTCTGGTGACACCACGCCCTGTGCCTGCCAGGCCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCNNNN
|
benign
| 308,099 |
The genetic variant at chromosome 19, position 49862035, affecting gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
CCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAA
|
CCGGCTGCGTGCACTTTTCCTACAAAGCATCGTGTGAGATCCGCGTGCTTATGCTCCTGTACTCTTCAGAGAAGAAAATCTTCATTGGCCTCATCCCCCATGACCAGGGCAACTTTGTCAACGGCATCCGGCGTGTCATTGCCAACCAGCAGCAGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAN
|
benign
| 308,102 |
Considering the genetic mutation at chromosome 19, position 49862383, impacting PNKP (polynucleotide kinase 3'-phosphatase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12']
|
TGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAG
|
TGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGNNNNNNNNNNNNNN
|
pathogenic
| 308,121 |
Does the variant on chromosome 19 at location 49862556 affecting gene PNKP (polynucleotide kinase 3'-phosphatase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'PNKP-related_disorder']
|
GAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCT
|
GAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTNN
|
pathogenic
| 308,129 |
Considering the variant on chromosome 19, location 49862742, involving gene PNKP (polynucleotide kinase 3'-phosphatase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
ACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTAT
|
ACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATN
|
benign
| 308,136 |
Variant at chromosome position 49864083, chromosome 19, gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
TGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCA
|
TGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAN
|
benign
| 308,149 |
Variant in gene PNKP (polynucleotide kinase 3'-phosphatase), located at chromosome 19 position 49864211: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12', 'Inborn_genetic_diseases']
|
CGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCC
|
CGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTAACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTC
|
pathogenic
| 308,155 |
A mutation at chromosome position 49865434 on chromosome 19 in gene PNKP (polynucleotide kinase 3'-phosphatase): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
GCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGC
|
GCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCNN
|
benign
| 308,179 |
Does the variant impacting PNKP (polynucleotide kinase 3'-phosphatase) on chromosome 19, position 49867061, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12']
|
TTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCTCACT
|
TTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCTCACTN
|
pathogenic
| 308,188 |
Evaluate if the mutation on chromosome 19 at position 49867141 in PNKP (polynucleotide kinase 3'-phosphatase) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_12']
|
TGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCTCACTCTCTCCCCCACACCAGGGCCGGAGAGTGAGGGCCCCTGCCCCCCACCTTGGGTGGACGAGGGCCCTTTAAGGCACCTGTG
|
TGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCTCACTCTCTCCCCCACACCAGGGCCGGAGAGTGAGGGCCCCTGCCCCCCACCTTGGGTGGACGAGGGCCCTTTAAGGCACCTGT
|
pathogenic
| 308,191 |
The genetic variant at chromosome 19, position 50293221, affecting gene MYH14 (myosin heavy chain 14): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
CAGCACCTTTATAAACATCCATGCCCCAGAGGCTGGCTTCCTTCTTCTTCTATTTTACATTTCTTTCATTTAAAATGCTGCACTTTTAAGTCAAATTTCCTCATTTTTTTGTTTGTTTCTTTGTTTGTTCAGTTGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCGACGTGATCTCAGCTCACAGCAACTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCATAATTTTTGTATTTTTAGTAGAGACAAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGATCTCTTGGCCTCAAGTGATCCACCCGCCCCCATGGTTTTGTTTTTGAAGTGAAAATACCATATGGTTTTTTGGCCAGACACAGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCAATACCAGCCTGGCCAATATGGTGAAACCCTGTTTCTACTAAAAATACAAGAATTAGCCAGGCATGGTGGCACGCACCTGTGGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGGAGGCAGTGGTTGCAGTGAGTTGAGATCCCACCAGTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAGTAAAGATAGAAATAAAATAAATAAATCAACAGTAGGCAAACTGAGGCTCAGAGAGGGGCAGTGGCTGGCTCACAGTCACCCAGCAAGGATATGGCCAAGTTGTAATTCAAACCCATGTCTATCTAACTTGAAGCCAGGCTCCATCAGGCTTCCAGCTGCCTTCTAGTTCTCAGCCAGGTCAACCTCCTCCCTTGAGGACCAGAGTGGGAGAGGCTGGCTCAGGGTCACACAGCAAGTGGCTTTATACACAGGAGCCCAGGTCTGCAGGGTTCGGAGAGTTCCCTGCTTGTTCACGGGAGCTGAGGAGCCCCGTCGGTCTGGCAAGGGGGTGGAGGAGTTCCCTGTGCTGTGTGGCCAGGCTGAGCCCATCTACCTATTCCGTTCCACCCAGGCCCAGATGAAGGAGCTATGGCGGGAGGTGGAGGAGACACGCACCTCCCGGGAGGAGATCTTCTCCCAGAATCGGGAAAGTGAAAAGCGCCTCAAGGGCCTGGAGGCTGAGGTGCTGCGGCTGCAGGAGGTGAGGCTGGGGTAGGCTGGGCCCTGGGACAGGAAGCTGGGAGGTGGGCAAGGCTAACCTTGAGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCAGGGTGTAAGGCTCGGGAGGTGGGTGTGTCTTACCATGTGGCCTGCAATGCCAGCCTAAGAGCAGGGATTTTGTCTTAGGGCACTAGGGAGCCATGGAAAGATCCAGAACAGAGGATGGGCAGGGTCAGCTCTGTAGCAGTTGAACTGGAGTGGGGAGATTGGAGTCACAAAGGCTGTGGGAGTGGGAGTGGGAGAGGGGAGAGAGAGAGAGATTGAGAAAGAGAGAGAGAACCCTGAGCCAGGGCCAAGGGGATGCAGAGGACGGAGAAGGCAGTCAGAAGGCAGGAGGGAGAAGGCTATGGTGAGGGGGGCCGGAGGAGGGGAGGAGAGCACTGGGGGTCTGGCCCGGTGATTGGGGGACCCTGGAGGAGAGGCAGGTTTGAGAGGAGGACCTGTGTGCAGTAAAAGGTGGAGAGGGTGAGGGGCCTGGGGGTTGGGCTGCAAGAGGTGAGCACAGGTCAGGGGCTCAGGAGACAGATTTAGGAGACATCTGTAGGTTGCAGCTCATTCCAGGGTTACCCAGGGACAGCATGAGAAAAAAGCCAAGAGCCTTGAGGTGTGAGGGACAGAGAAAGGGGTGAGACCCGTGCCCAGATTGCTTCTCCTCACACCCACCGGCCACCCCTCCATCATCACAGGAACTGGCCGCCTCGGACCGTGCTCGGCGGCAGGCCCAGCAGGACCGGGATGAGATGGCAGATGAGGTGGCCAATGGTAACCTTAGCAAGTAAGTGCCCCAAGGGTCTGAAGGCTGAGGTACTGCGTCTGCAGGAGGTGAAGCTGGGGTAGGCTGGAGGTGGCTGGGCTCTGGGACAGGAAACTGGGAGGTGGGCGGGGTTAACCTCGGGGCCCCTGGGGTGTGAGGCTGGGGAGATGCGTGGGGCTAACCACAGGGTCCTGTAGTGTGAGGCAAGGCACCCTCCTCTGACCATCCTGTCCTTTCATCCCCACGCCTTCCTGTCTCCCTAGGGCAGCCATTCTGGAGGAGAAGCGTCAGCTGGAGGGGCGCCTGGGGCAGTTGGAGGAAGAGCTGGAGGAGGAGCAGAGCAACTCGGAGCTGCTCAATGACCGCTACCGCAAGCTGCTCCTGCAGGTGAGCGTGATTGACCGCCCCCACCAGCCTCAGTCCCCATTGACCTGGGACCGTAACCTTCAGTCCTCTTATTCAACAAATATAGAAAGGGGATATTTGAGTTGGGTTTTGAAGGTTGAATAGGAGTTCTTAAAAGGGTTGAAAGGCATGATTCACTTGTATTTCTGAGGGGTTTCTTCAGGGCTAAATCCAAAGATGAATTATGTGGGGAAACAGACATGGGCCAGCAAGTGTGATCATGGAAGTCTCCTGGGCCCAGTAGAGAGAGAGAAAAGACTTTCTGCAGGAGTCATAAGAAAACATTTGGAAAAAGAGACATTTGGCTGGGGGTTTTAAAGCATAAGTTGGAGTTCAGCAGAGGGAGAAAAGCATGTTTTCCTTTGCATATTTATTTATAAATATTTTCTGAGGATTCCGGTGGCCCAGATCCTATTCCGGGTTATGCTGGGGACCTGGAGATGGTTAATACTAAGCCTCTGCCCTCAAACACGTCTTAGTCTAAAGGAGGAAATAGACCATCCCAATACAGAGATACAAGTGAAAATGGAGGAAACACGGGCACTGTGGGAACCTAGAAGGGACTACCAACCTAGCCTGGAGGATAGAGGCCATCAGAGAAGGCTTCCTGGTGGAGGTGATGCCTTGAGAGATCTTAAAGGAAGTGTAAGAGTTTGCCAAGAAGACAACAGAGTGATGGGATTTCCAAGGACAAACCAATGTCTGCATTCTTCATTAGTTTTTTTCTAATTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCCCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGATTCTCCAATTTTCTCTACAAAATATTTAAAAATTAGCCAGGTGCAGTGGTGCATGCCTGTAGTCCAACTACCTGGGAGGCTGAGGAGGGAGGATCGCTTCAGCCTGGGAGATTGAGGCTGCAGTGAGCTATGATTGTGTCACTGCACTCCAGCCTGGGTGACTGGATGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGGTAATAATTATATGCTCAACAGTTATGTGTAGTAAGACTACTTTTTAAATGGAGAGAATGGGGAAAATATGCAAAATGTTTTAACCTACTTTAATTGATGGTGATAGTATTAGCACTGTTTTTCTGAGACATTGAGTTTATAATGTGGGATAAAGTAAATGATCAAAGATGGGATACTATGTCATCTACTACGTCCTTGACATCAGGGTACTCAGCACCAAAGAACCTTGATATAGTTGTCCTAGAGAAGAGATTAAGTTTTTTTTTTTTTTTTTTTTTAAAAACAGGCCAGGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCATGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGT
|
CAGCACCTTTATAAACATCCATGCCCCAGAGGCTGGCTTCCTTCTTCTTCTATTTTACATTTCTTTCATTTAAAATGCTGCACTTTTAAGTCAAATTTCCTCATTTTTTTGTTTGTTTCTTTGTTTGTTCAGTTGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGCGACGTGATCTCAGCTCACAGCAACTCTGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCGCCATAATTTTTGTATTTTTAGTAGAGACAAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGATCTCTTGGCCTCAAGTGATCCACCCGCCCCCATGGTTTTGTTTTTGAAGTGAAAATACCATATGGTTTTTTGGCCAGACACAGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCAATACCAGCCTGGCCAATATGGTGAAACCCTGTTTCTACTAAAAATACAAGAATTAGCCAGGCATGGTGGCACGCACCTGTGGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGGAGGCAGTGGTTGCAGTGAGTTGAGATCCCACCAGTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAGTAAAGATAGAAATAAAATAAATAAATCAACAGTAGGCAAACTGAGGCTCAGAGAGGGGCAGTGGCTGGCTCACAGTCACCCAGCAAGGATATGGCCAAGTTGTAATTCAAACCCATGTCTATCTAACTTGAAGCCAGGCTCCATCAGGCTTCCAGCTGCCTTCTAGTTCTCAGCCAGGTCAACCTCCTCCCTTGAGGACCAGAGTGGGAGAGGCTGGCTCAGGGTCACACAGCAAGTGGCTTTATACACAGGAGCCCAGGTCTGCAGGGTTCGGAGAGTTCCCTGCTTGTTCACGGGAGCTGAGGAGCCCCGTCGGTCTGGCAAGGGGGTGGAGGAGTTCCCTGTGCTGTGTGGCCAGGCTGAGCCCATCTACCTATTCCGTTCCACCCAGGCCCAGATGAAGGAGCTATGGCGGGAGGTGGAGGAGACACGCACCTCCCGGGAGGAGATCTTCTCCCAGAATCGGGAAAGTGAAAAGCGCCTCAAGGGCCTGGAGGCTGAGGTGCTGCGGCTGCAGGAGGTGAGGCTGGGGTAGGCTGGGCCCTGGGACAGGAAGCTGGGAGGTGGGCAAGGCTAACCTTGAGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCTGGATGTGAAGCTGGGGAGGTGGGCGGGGCTAACCACAGGGTCCCAGGGTGTAAGGCTCGGGAGGTGGGTGTGTCTTACCATGTGGCCTGCAATGCCAGCCTAAGAGCAGGGATTTTGTCTTAGGGCACTAGGGAGCCATGGAAAGATCCAGAACAGAGGATGGGCAGGGTCAGCTCTGTAGCAGTTGAACTGGAGTGGGGAGATTGGAGTCACAAAGGCTGTGGGAGTGGGAGTGGGAGAGGGGAGAGAGAGAGAGATTGAGAAAGAGAGAGAGAACCCTGAGCCAGGGCCAAGGGGATGCAGAGGACGGAGAAGGCAGTCAGAAGGCAGGAGGGAGAAGGCTATGGTGAGGGGGGCCGGAGGAGGGGAGGAGAGCACTGGGGGTCTGGCCCGGTGATTGGGGGACCCTGGAGGAGAGGCAGGTTTGAGAGGAGGACCTGTGTGCAGTAAAAGGTGGAGAGGGTGAGGGGCCTGGGGGTTGGGCTGCAAGAGGTGAGCACAGGTCAGGGGCTCAGGAGACAGATTTAGGAGACATCTGTAGGTTGCAGCTCATTCCAGGGTTACCCAGGGACAGCATGAGAAAAAAGCCAAGAGCCTTGAGGTGTGAGGGACAGAGAAAGGGGTGAGACCCGTGCCCAGATTGCTTCTCCTCACACCCACCGGCCACCCCTCCATCACAGGAACTGGCCGCCTCGGACCGTGCTCGGCGGCAGGCCCAGCAGGACCGGGATGAGATGGCAGATGAGGTGGCCAATGGTAACCTTAGCAAGTAAGTGCCCCAAGGGTCTGAAGGCTGAGGTACTGCGTCTGCAGGAGGTGAAGCTGGGGTAGGCTGGAGGTGGCTGGGCTCTGGGACAGGAAACTGGGAGGTGGGCGGGGTTAACCTCGGGGCCCCTGGGGTGTGAGGCTGGGGAGATGCGTGGGGCTAACCACAGGGTCCTGTAGTGTGAGGCAAGGCACCCTCCTCTGACCATCCTGTCCTTTCATCCCCACGCCTTCCTGTCTCCCTAGGGCAGCCATTCTGGAGGAGAAGCGTCAGCTGGAGGGGCGCCTGGGGCAGTTGGAGGAAGAGCTGGAGGAGGAGCAGAGCAACTCGGAGCTGCTCAATGACCGCTACCGCAAGCTGCTCCTGCAGGTGAGCGTGATTGACCGCCCCCACCAGCCTCAGTCCCCATTGACCTGGGACCGTAACCTTCAGTCCTCTTATTCAACAAATATAGAAAGGGGATATTTGAGTTGGGTTTTGAAGGTTGAATAGGAGTTCTTAAAAGGGTTGAAAGGCATGATTCACTTGTATTTCTGAGGGGTTTCTTCAGGGCTAAATCCAAAGATGAATTATGTGGGGAAACAGACATGGGCCAGCAAGTGTGATCATGGAAGTCTCCTGGGCCCAGTAGAGAGAGAGAAAAGACTTTCTGCAGGAGTCATAAGAAAACATTTGGAAAAAGAGACATTTGGCTGGGGGTTTTAAAGCATAAGTTGGAGTTCAGCAGAGGGAGAAAAGCATGTTTTCCTTTGCATATTTATTTATAAATATTTTCTGAGGATTCCGGTGGCCCAGATCCTATTCCGGGTTATGCTGGGGACCTGGAGATGGTTAATACTAAGCCTCTGCCCTCAAACACGTCTTAGTCTAAAGGAGGAAATAGACCATCCCAATACAGAGATACAAGTGAAAATGGAGGAAACACGGGCACTGTGGGAACCTAGAAGGGACTACCAACCTAGCCTGGAGGATAGAGGCCATCAGAGAAGGCTTCCTGGTGGAGGTGATGCCTTGAGAGATCTTAAAGGAAGTGTAAGAGTTTGCCAAGAAGACAACAGAGTGATGGGATTTCCAAGGACAAACCAATGTCTGCATTCTTCATTAGTTTTTTTCTAATTTTTTTTTTTTTTTTTTGAGGTGGAGTCTCCCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGATTCTCCAATTTTCTCTACAAAATATTTAAAAATTAGCCAGGTGCAGTGGTGCATGCCTGTAGTCCAACTACCTGGGAGGCTGAGGAGGGAGGATCGCTTCAGCCTGGGAGATTGAGGCTGCAGTGAGCTATGATTGTGTCACTGCACTCCAGCCTGGGTGACTGGATGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGGTAATAATTATATGCTCAACAGTTATGTGTAGTAAGACTACTTTTTAAATGGAGAGAATGGGGAAAATATGCAAAATGTTTTAACCTACTTTAATTGATGGTGATAGTATTAGCACTGTTTTTCTGAGACATTGAGTTTATAATGTGGGATAAAGTAAATGATCAAAGATGGGATACTATGTCATCTACTACGTCCTTGACATCAGGGTACTCAGCACCAAAGAACCTTGATATAGTTGTCCTAGAGAAGAGATTAAGTTTTTTTTTTTTTTTTTTTTTAAAAACAGGCCAGGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCATGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTNNN
|
benign
| 308,384 |
Variant in POLD1 (DNA polymerase delta 1, catalytic subunit), chromosome 19, position 50399360—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
benign
|
TTGCTTGAACTGGGTCCCGGGAAGCGGAAGTTGCAGTGAATCGAGATTGTGCCACTGTACTCCAGCCTGGGCAACAAGAGTGAGATTCTGTCTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTGCTCTGTGGCCCAGGATGGAGTACAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCTACCTCACCTGGCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACCCGGCCCTGATTATGTCTTTAAAAGAAAGAAAAAGAAAACACAAATATATATAAGTAGCAGTCTGTATGTGTTTTGTGTTGTGTTTTGTTTGCTACTGTGGGTCCTGGACTCGGGGAGAAAGCAGGTTACTATAAACGGCATTTTGGAGACAGTTGGAGAAATTGGGAAAGGTGCCCTTTATTTTATATCAACCTTGAGTCAGTGTTAAATGTCCTAGATTGTATCGTACTGTGCTCGGTGAAAGGAATTCCTTATTGTTAGGCACTACGTGCTAACATGTGGAGGGGTATGGGATCTGCAAGGAACTCTCAAATTACTCAGGAAAAGAAGTAACAATATGATGTGCATACCGCACATGTGGGAGGGCAGAGAGAGGCGGTGAGAGAGCACACACACGACACGCTGACCACCGGGGAGCCTGGGGAAGGGCATACAGGAGTTCTAGGCATTTGAGATTATTTCAAAGTATTTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGTCATTTCAATGGCAGATGGCCTGGGCAGATGGGTGGTTGGTAGGCGAGGTATCGGAGACAGAGGTTTATGGAAAATAAAGAGATGTGCCAAGGCCGGGCGCGGAGACTCAGGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTCAAAACACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGGAGAATCGCTTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGAGCACAATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGCAAGAGATGTGCTAAGGACCTAGTGTGATGGGAGAGAGGGTCGGGGAGTCGACGGGGCTGCTGCTGCAGTAGCTAACAATTGAGCGTCTGGAATGTGCTCCCACCCCACTGCCTGCAGGGTGCAGAGAGCTATGTTAGTACAGCCAGTCCAGAGTAGGAAAAGGCTCGTGGTCATGGTGGGTGCATGGGATGCCATGGAGACAGGGTAAGAGGTGTCTCCGGTCAGAACCTCCACCAAGCTCCAACTTGCCCAGCAGGATGGATGGCAAGCGGCGGCCAGGCCCAGGGCCCGGGGTGCCCCCAAAGCGGGCCCGTGGGGGCCTCTGGGATGATGATGATGCACCTCGGCCATCCCAATTCGAGGAGGACCTGGCACTGATGGAGGAGATGGAGGCAGAACACAGGCTGCAGGAGCAGGAGGAGGAGGAGCTGCAGTCAGTCCTGGAGGGGGTTGCAGACGGTAAGGCTTGGAGTTGGAGGTTCCTGCTGCCCAACCCATTGCCCCTGGTCTTGCCTTTGGTCCAAGAGTCAGCTGCAAAGCTGACCTGTGACCCCACTCTGGCCAATTTTGAATCCTACAAAGGACTGCCCTTCCACCCCGTGCAGCCTGTGTGGCCTACAGTGATTCTGGCCCTGACCCTTGACCCTCATTCTCTTCCAAGTTTCCTGCCTGACCCAGACCACCACCTCTGCCTGGCTCCTTTCAGAACCACATGCCATCCTGGCCGGGGAAGACCATGACTCCATGTACTCCACTTCCTTCCCTTCCCCCACCAGGGCAGGTCCCACCATCAGCCATAGATCCTCGCTGGCTTCGGCCCACACCACCAGCGCTGGACCCCCAGACAGAGCCCCTCATCTTCCAACAGTTGGAGATTGACCATTATGTGGGTGAGTTTAGGGGTTATGGGTGAGTGCTGGGGCCCTGCGCTCCTGGGGCAGAGGCCGGGCCAGGTCAGCCCCTCTGGCCCTGTGCTCCTGGGGCAGAGGCCGGGCCAGGTCAGCCCCTCTGGCTCTGCCCCTCTGGTTGCCATAGAGCTGTAGTGACAGAACAGACCAGTGGGTGCCAGGGGTTGTGGAGTGCGAAGCGAAGGTGACACAGGGTCAGCTTGAGGGAGGTGCTTGGAGCGTTGATCTGTTTTGCATACGTAGTAGCTGCAGCCTGTGCAAGGACCTCTGTGCCTTAAAATTCATAACACCAGACACATAAACCAAAAGTCAATTTGACTTCTTTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTT
|
TTGCTTGAACTGGGTCCCGGGAAGCGGAAGTTGCAGTGAATCGAGATTGTGCCACTGTACTCCAGCCTGGGCAACAAGAGTGAGATTCTGTCTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTGCTCTGTGGCCCAGGATGGAGTACAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCTACCTCACCTGGCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACCCGGCCCTGATTATGTCTTTAAAAGAAAGAAAAAGAAAACACAAATATATATAAGTAGCAGTCTGTATGTGTTTTGTGTTGTGTTTTGTTTGCTACTGTGGGTCCTGGACTCGGGGAGAAAGCAGGTTACTATAAACGGCATTTTGGAGACAGTTGGAGAAATTGGGAAAGGTGCCCTTTATTTTATATCAACCTTGAGTCAGTGTTAAATGTCCTAGATTGTATCGTACTGTGCTCGGTGAAAGGAATTCCTTATTGTTAGGCACTACGTGCTAACATGTGGAGGGGTATGGGATCTGCAAGGAACTCTCAAATTACTCAGGAAAAGAAGTAACAATATGATGTGCATACCGCACATGTGGGAGGGCAGAGAGAGGCGGTGAGAGAGCACACACACGACACGCTGACCACCGGGGAGCCTGGGGAAGGGCATACAGGAGTTCTAGGCATTTGAGATTATTTCAAAGTATTTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGTCATTTCAATGGCAGATGGCCTGGGCAGATGGGTGGTTGGTAGGCGAGGTATCGGAGACAGAGGTTTATGGAAAATAAAGAGATGTGCCAAGGCCGGGCGCGGAGACTCAGGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTCAAAACACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGGAGAATCGCTTGAACCTGGGAGGTAGAGCTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGAGCACAATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGCAAGAGATGTGCTAAGGACCTAGTGTGATGGGAGAGAGGGTCGGGGAGTCGACGGGGCTGCTGCTGCAGTAGCTAACAATTGAGCGTCTGGAATGTGCTCCCACCCCACTGCCTGCAGGGTGCAGAGAGCTATGTTAGTACAGCCAGTCCAGAGTAGGAAAAGGCTCGTGGTCATGGTGGGTGCATGGGATGCCATGGAGACAGGGTAAGAGGTGTCTCCGGTCAGAACCTCCACCAAGCTCCAACTTGCCCAGCAGGATGGATGGCAAGCGGCGGCCAGGCCCAGGGCCCGGGGTGCCCCCAAAGCGGGCCCGTGGGGGCCTCTGGGATGATGATGATGCACCTCGGCCATCCCAATTCGAGGAGGACCTGGCACTGATGGAGGAGATGGAGGCAGAACACAGGCTGCAGGAGCAGGAGGAGGAGGAGCTGCAGTCAGTCCTGGAGGGGGTTGCAGACGGTAAGGCTTGGAGTTGGAGGTTCCTGCTGCCCAACCCATTGCCCCTGGTCTTGCCTTTGGTCCAAGAGTCAGCTGCAAAGCTGACCTGTGACCCCACTCTGGCCAATTTTGAATCCTACAAAGGACTGCCCTTCCACCCCGTGCAGCCTGTGTGGCCTACAGTGATTCTGGCCCTGACCCTTGACCCTCATTCTCTTCCAAGTTTCCTGCCTGACCCAGACCACCACCTCTGCCTGGCTCCTTTCAGAACCACATGCCATCCTGGCCGGGGAAGACCATGACTCCATGTACTCCACTTCCTTCCCTTCCCCACCAGGGCAGGTCCCACCATCAGCCATAGATCCTCGCTGGCTTCGGCCCACACCACCAGCGCTGGACCCCCAGACAGAGCCCCTCATCTTCCAACAGTTGGAGATTGACCATTATGTGGGTGAGTTTAGGGGTTATGGGTGAGTGCTGGGGCCCTGCGCTCCTGGGGCAGAGGCCGGGCCAGGTCAGCCCCTCTGGCCCTGTGCTCCTGGGGCAGAGGCCGGGCCAGGTCAGCCCCTCTGGCTCTGCCCCTCTGGTTGCCATAGAGCTGTAGTGACAGAACAGACCAGTGGGTGCCAGGGGTTGTGGAGTGCGAAGCGAAGGTGACACAGGGTCAGCTTGAGGGAGGTGCTTGGAGCGTTGATCTGTTTTGCATACGTAGTAGCTGCAGCCTGTGCAAGGACCTCTGTGCCTTAAAATTCATAACACCAGACACATAAACCAAAAGTCAATTTGACTTCTTTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTN
|
benign
| 308,510 |
Variant chromosome 19, position 50401932, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? Disease(s)?
|
benign
|
GGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTC
|
GGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGCTTTTGCCAAGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTTAGATTACAGGTGTGAGCCATTGTGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGTTCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTC
|
benign
| 308,586 |
Chromosome 19, position 50402154, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
TGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTCCGGATGCTTCTTGAGTCTGCATGTGTGTAAGGGTGGATTCCTCTGCCCGAGTTGCTGTAACAAAGAGCCACAGACCAGGTGGCTGAAAACAGCAAAAAGTCATTGTCTCACCGTCCTGAAGGCTGGAAAGTCCATGACCAAAGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCAT
|
TGCCAGCCCAATTTGACTTTTTAAAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGTTGCCCAGGCTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCCTGTCGCCCAGGCTGGAGTGCAGTGGCACACTCTTGGCTCACTATAACCTCCGCCTCCTGGGTTCAAGTGATCCTTCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTTTCAAACTCCTAACCTCAGGTGATCTGCCGACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTCCGGATGCTTCTTGAGTCTGCATGTGTGTAAGGGTGGATTCCTCTGCCCGAGTTGCTGTAACAAAGAGCCACAGACCAGGTGGCTGAAAACAGCAAAAAGTCATTGTCTCACCGTCCTGAAGGCTGGAAAGTCCATGACCAAAGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATN
|
benign
| 308,620 |
Considering the genetic mutation at chromosome 19, position 50402538, impacting POLD1 (DNA polymerase delta 1, catalytic subunit): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
GGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCTTCCCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTCCGGATGCTTCTTGAGTCTGCATGTGTGTAAGGGTGGATTCCTCTGCCCGAGTTGCTGTAACAAAGAGCCACAGACCAGGTGGCTGAAAACAGCAAAAAGTCATTGTCTCACCGTCCTGAAGGCTGGAAAGTCCATGACCAAAGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTT
|
GGATTACAGGAGTGAGTAACTGTGCCCCGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGCTGGAGAGCAGTGGCACAATCATGGTTCACTGTAACCTCAACCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCGGAGTAGCTAGGACTACAGGTGTGCACCACAATGTCTGGCTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTACAGGCACCCGCCCCAACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCTTGAGCCACCGCGCCCGGCCTGGCTAACTTTTAAAAATATACTTTTGGGCCCGGCATGGTGGCTCACTTTTGGAGGCTGAGGCAGGCTGATCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATTCAAAAAATTAGCCAGGTGTGGTGGCATGGGCCTGTAATCTCAGCTGTTCAGGTGGCTGAGGCACAAGAATCCTTTCAACCTGGGAGGTGGTTGAAATATAAATATAAGATATATATATATGATATATTCTTTATGTATTAATTTATGTATAACATATATTATATATTAATATATTTTGTAGAGACAAATATATTTATTTGTACATATAATATGTGTGTGTATTTGTGTATATGTGTATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGAGACTGGGTCTCGCTCTTTTGCCCAGGCTGGTCTCAAAGTCCTGGGCTCTAGCGATCCTCCCGCCTTGGCCTCACAAAGCACTGGAATCACAGGTGTGAGTCACTGTGCACGGCCAGTTGTTTTTATCTTGTAATAAAAAAGAAGGGCCTCCCTGTAGTTGTGCTGTGGAGAATGGATCCTGGGGGATGAGGCTGGAGATGGGAACCAGGGGGGAGGCTGAAATGGACACAGGGAACGGTACAGGGGCAGGAGTGCCCCAGGCTGCAGGCCCCAAGGTATTTCGAGGCTGTGGAGACACACCTTGGAGGACCCTGAGAGGCATGGCCGCTGTCTTACCCTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGATGAGGGGTTCTCTGTCTGCTGCCACATCCACGGCTTCGCTCCCTACTTCTACACCCCAGCGCCCCCTGGTGAGTGGCCCCTACCCAGCCCCTCCCTGAGCCACTGGAGCCCCCTGCACCTCTGATCATCCCTCCCACACCAGGTTTCGGGCCCGAGCACATGGGTGACCTGCAACGGGAGCTGAACTTGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGGGCCGGCCGTGCTGGCTGTGGAACTGTGCTCCCGAGAGAGTGAGTGCTCCCCCAGGATCAGCGGGTTGGAGGGTCCCCTCGGGAGGCCATTGGCTGGTCCCAGCTTCTTCCATCCACAGGCATGTTTGGGTACCACGGGCACGGCCCCTCCCCGTTCCTGCGCATCACCGTGGCGCTGCCGCGCCTCGTGGCCCCGGCCCGCCGTCTCCTGGAACAGGGCATCCGTGTGGCAGGCCTGGGCACGCCCAGCTTCGCGCCCTACGAGGCCAACGTCGACTTTGAGATCCGGTACGGCCTCTGCCTCACTTCTCCGGCCTCTATCCCCACCCTCGGGCAGCCCCTGTCCACTGACCCCCAGCCCCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGCTGAAGGAGAAGGTGCAGGGCAGGGCTGGGTGGGGAGCTGGTACCCTGCTGCCACCGCTGACCCACCCATGCCCACAGGCTACGCAGTGCCAGCTGGAGGCGGACGTGCTGTGGTCTGACGTGGTCAGTCACCCACCGGAAGGGCCATGGCAGCGCATTGCGCCCTTGCGCGTGCTCAGCTTCGATATCGAGTGCGCCGGCCGCAAAGGTCTGTCCCCGGGCCCGGGCTCCTGCCCGCCTCATTGATGTGCCAAGTCGGGGGTCGGAAAGGCAGGTCCGGTGGAGGGAATGGCAAGCATGAAGGTGCCGGGGCAGGAGCACCCCAGCCCATGTGGCCAGATGGAGTGAGCACAGAGGGTGTGGAGATGGCCTGGAGGTGAGAGCAGAGCAGGAGCCAGGGTGAGCCACGTAGGGCCGGCAGGCAGCGGGGACAGCCCCGGGGAGATGGCAGGTGCAGCCTCCCTGCTGTGTTGGGAGTGAGGGGCAGGAGTCAGGCCCCTGCATCCTCCTGCCTCGCAGGCATCTTCCCTGAGCCTGAGCGGGACCCTGTCATCCAGATCTGCTCGCTGGGCCTGCGCTGGGGGGAGCCGGAGCCCTTCCTACGCCTGGCGCTCACCCTGCGGCCCTGTGCCCCCATCCTGGGTGCCAAGGTGCAGAGCTACGAGAAGGAGGAGGACCTGCTGCAGGTAGCTCTCGCTCCACGCCCCACACCATTTCCCGGGGTCCCCGCCAGCCTCCGCGTCCTGAGCCATCAGCTCCTGGGTGCTGCGACGCCCATGTCTGTGGGTCTGGGTGGGTGTCTGTGGGTCTGGGTGGGCCCCTGTGCAATTAGGCTTGAGCACTTCCCCTCTGGGTTCTGCAGGATTTTCAGGGGTGGCTGGGGTTCTAGAACATTCTGGAAGTAGGGGAATCCGAGGCAGGGCAACCACCAGGGTGACCCAATGTGCTCCCACCCCCAGGCCTGGTCCACCTTCATCCGTATCATGGACCCCGACGTGATCACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCTGGGCAGGTGGGAGGCTTCTCTCAGATGCCCCAGGTGTGGCCTCCGGGCCCTGGGCCTCCTTCCCACTCCCTCTCCACATGGCTTGGTGCATCTTGCTCTGTGTGCCTCAGCCGATTGCCTGCAGGGGCAGCCTAGGCCTGGTCCTGCCCTGCTCCAAGTCGAAAAAGTTACTGTGGCTTTTATCAGAGGCAAGGAGGGCGTTACGGTGGAGTAAGAGAAGGCTGTGCATTCAAGGTCGGCCTGAAGCTTGCAGGGGTTCAACAAGCCATGAAGCAGCCACTGAATCCCAGTCTTCCTTTAGGTTATATCAGCATAAGGAAAAGAATCATAATGGAGGAGGAGGGGGGAGTGTGTTGACTGATGGGGCAAATTCCGGATGCTTCTTGAGTCTGCATGTGTGTAAGGGTGGATTCCTCTGCCCGAGTTGCTGTAACAAAGAGCCACAGACCAGGTGGCTGAAAACAGCAAAAAGTCATTGTCTCACCGTCCTGAAGGCTGGAAAGTCCATGACCAAAGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTNNNNNNNNNN
|
benign
| 308,691 |
Evaluate this variant at chromosome 19, position 50406169, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
AGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGCCACCACGCCCCGCAAATTTTTGCTTTTTTGTTATTGTTTCTTGAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGGGGCGCTGGGGTGTAGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCCGCTTCCATGCCCGACTAATTTTGTATTTTTAGTAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCCAATCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTGTTTTTGTTTTTGTTTTTTTTAGCAGAGACTAGGTTTCATCATGTTGGCCAGGCTGGTCTCCATCCTCACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCTAGCCCACATGTCCTCTTTGTGTAGTGACACCGTCGTGAGGTGAGGGCCCACCCCAGTGACCTCATCTTCACTTGACCCCCTGCGAAGACATATTTCCAAATGAGGTTACATTCTGAGGTGCCGGGGGTTAGGGCTTCAACATCTTTTGGGAGAACATGGTTCAGCCCTTAATGAGATATATTGCCTTATTTTCCTGCTTTTCTCTATGTCTGGCCAGCTTGGTAATGGAAAAACAAAACAGGCTGGGTGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGATGAGGCGAGAGGATCGATGGAGCCCAGGAGTTCAAGACCAGCCAGGGCAACATAGCAAGACCCTGCCTCTATTAAAGAGAAAACAAGAAAAAATCCATTCTAAAATACAGAACAAACTCTTAGGACCCCCAGTGTATATTCCACAGCGTGGCGCTGATGCCCGGGCCATGGTACTCCTCCTCCCCTTCCCTGGGTGTCCCTCACCCTCTGCCCTGTCCCCAGCTCAGGCTTCTTCTGGCCTCAGTCTCCCCCAGGCTGGGCCCCAGCACCCTGCAAGGCCTCCTGCAGCCAGGCGCCCTCCAGCGCCCTCAGCATCCATCTCAGCCCAGCTCCACGCCGCCTCCTGCCTCTGCCCCCACCTGGCCGCCTGCTCACAGTGTCCCCAAATCTCTTCCTGTTTCCTGCCTAGGTACAGCCCGCAGACACTGGGCTCCATCCTTGGCCCCCAGTCCATCAGGGCCCCTGACTCTCGCTATCCCAGCCTTGGCTGCAGCTTAGTCCTTACTCCGGACTCCCTCCCCAGTCTCCAGCCACCCACACCCAGCCCCAGACCGTCTTTCTGCCCCCAGGGTTGCTCTCGACCCCCTAGGGTTGTTATAAGGATGTTGTGGTTGGTCTCAATCTCCGTTCTTCAGGCTTATGTGACGGGGACCCGCAGCCTGCTGCACACCCTGCCTCTCCTCCTCAGGTACAAACATTCCCTTTCCTGGGCCGTGTGGCCGGCCTTTGCTCCAACATCCGGGACTCTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAGGTTGTCAGCATGGTGGGCCGCGTGCAGATGGACATGCTGCAGGTATGGGCGGGAGGTGGGGTGTGTCCCTGTCCTTGGAAGGCCACTGCCCAGGCCCGCAGCCCACCAGCCCACCCACCCACCTAGGTGCTGCTGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGAGCAGAAGGAGGACGTGCAGCACAGCATCATCACCGACCTGCAGGTGCCTGCTGCCTCCCTGACCTCTCACCCCAACCTCTGACCTCCACCTCACCCTTCCCCGGCCTCTGACCTCAACTTCACGCCCCCACGTCTGACCTCACTCTTTGACCTGCTGTTATGACCTGTGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGT
|
AGTGTCAGCGGGCCTGCTTCCTTCGGGGGCTGCAAGGGAGGACTGGTTCACGGCCTCTCTCCTTGGCTTGCAGACGGCCATCATCCCCCTGTGCCTCTTCACACCGTCTTCTCTCTGTGCGTGTCTGTTTCCACATGTCCTCCCTTTTTTTTTTTTTTCCAAGACAAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGCCACCACGCCCCGCAAATTTTTGCTTTTTTGTTATTGTTTCTTGAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGGGGCGCTGGGGTGTAGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCCGCTTCCATGCCCGACTAATTTTGTATTTTTAGTAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCCAATCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTGTTTTTGTTTTTGTTTTTTTTAGCAGAGACTAGGTTTCATCATGTTGGCCAGGCTGGTCTCCATCCTCACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCTAGCCCACATGTCCTCTTTGTGTAGTGACACCGTCGTGAGGTGAGGGCCCACCCCAGTGACCTCATCTTCACTTGACCCCCTGCGAAGACATATTTCCAAATGAGGTTACATTCTGAGGTGCCGGGGGTTAGGGCTTCAACATCTTTTGGGAGAACATGGTTCAGCCCTTAATGAGATATATTGCCTTATTTTCCTGCTTTTCTCTATGTCTGGCCAGCTTGGTAATGGAAAAACAAAACAGGCTGGGTGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGATGAGGCGAGAGGATCGATGGAGCCCAGGAGTTCAAGACCAGCCAGGGCAACATAGCAAGACCCTGCCTCTATTAAAGAGAAAACAAGAAAAAATCCATTCTAAAATACAGAACAAACTCTTAGGACCCCCAGTGTATATTCCACAGCGTGGCGCTGATGCCCGGGCCATGGTACTCCTCCTCCCCTTCCCTGGGTGTCCCTCACCCTCTGCCCTGTCCCCAGCTCAGGCTTCTTCTGGCCTCAGTCTCCCCCAGGCTGGGCCCCAGCACCCTGCAAGGCCTCCTGCAGCCAGGCGCCCTCCAGCGCCCTCAGCATCCATCTCAGCCCAGCTCCACGCCGCCTCCTGCCTCTGCCCCCACCTGGCCGCCTGCTCACAGTGTCCCCAAATCTCTTCCTGTTTCCTGCCTAGGTACAGCCCGCAGACACTGGGCTCCATCCTTGGCCCCCAGTCCATCAGGGCCCCTGACTCTCGCTATCCCAGCCTTGGCTGCAGCTTAGTCCTTACTCCGGACTCCCTCCCCAGTCTCCAGCCACCCACACCCAGCCCCAGACCGTCTTTCTGCCCCCAGGGTTGCTCTCGACCCCCTAGGGTTGTTATAAGGATGTTGTGGTTGGTCTCAATCTCCGTTCTTCAGGCTTATGTGACGGGGACCCGCAGCCTGCTGCACACCCTGCCTTCTCCTCCTCAGGTACAAACATTCCCTTTCCTGGGCCGTGTGGCCGGCCTTTGCTCCAACATCCGGGACTCTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAGGTTGTCAGCATGGTGGGCCGCGTGCAGATGGACATGCTGCAGGTATGGGCGGGAGGTGGGGTGTGTCCCTGTCCTTGGAAGGCCACTGCCCAGGCCCGCAGCCCACCAGCCCACCCACCCACCTAGGTGCTGCTGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGAGCAGAAGGAGGACGTGCAGCACAGCATCATCACCGACCTGCAGGTGCCTGCTGCCTCCCTGACCTCTCACCCCAACCTCTGACCTCCACCTCACCCTTCCCCGGCCTCTGACCTCAACTTCACGCCCCCACGTCTGACCTCACTCTTTGACCTGCTGTTATGACCTGTGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAG
|
benign
| 308,814 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 50406389, gene POLD1 (DNA polymerase delta 1, catalytic subunit): what disease(s) if pathogenic?
|
benign
|
CAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGCCACCACGCCCCGCAAATTTTTGCTTTTTTGTTATTGTTTCTTGAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGGGGCGCTGGGGTGTAGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCCGCTTCCATGCCCGACTAATTTTGTATTTTTAGTAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCCAATCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTGTTTTTGTTTTTGTTTTTTTTAGCAGAGACTAGGTTTCATCATGTTGGCCAGGCTGGTCTCCATCCTCACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCTAGCCCACATGTCCTCTTTGTGTAGTGACACCGTCGTGAGGTGAGGGCCCACCCCAGTGACCTCATCTTCACTTGACCCCCTGCGAAGACATATTTCCAAATGAGGTTACATTCTGAGGTGCCGGGGGTTAGGGCTTCAACATCTTTTGGGAGAACATGGTTCAGCCCTTAATGAGATATATTGCCTTATTTTCCTGCTTTTCTCTATGTCTGGCCAGCTTGGTAATGGAAAAACAAAACAGGCTGGGTGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGATGAGGCGAGAGGATCGATGGAGCCCAGGAGTTCAAGACCAGCCAGGGCAACATAGCAAGACCCTGCCTCTATTAAAGAGAAAACAAGAAAAAATCCATTCTAAAATACAGAACAAACTCTTAGGACCCCCAGTGTATATTCCACAGCGTGGCGCTGATGCCCGGGCCATGGTACTCCTCCTCCCCTTCCCTGGGTGTCCCTCACCCTCTGCCCTGTCCCCAGCTCAGGCTTCTTCTGGCCTCAGTCTCCCCCAGGCTGGGCCCCAGCACCCTGCAAGGCCTCCTGCAGCCAGGCGCCCTCCAGCGCCCTCAGCATCCATCTCAGCCCAGCTCCACGCCGCCTCCTGCCTCTGCCCCCACCTGGCCGCCTGCTCACAGTGTCCCCAAATCTCTTCCTGTTTCCTGCCTAGGTACAGCCCGCAGACACTGGGCTCCATCCTTGGCCCCCAGTCCATCAGGGCCCCTGACTCTCGCTATCCCAGCCTTGGCTGCAGCTTAGTCCTTACTCCGGACTCCCTCCCCAGTCTCCAGCCACCCACACCCAGCCCCAGACCGTCTTTCTGCCCCCAGGGTTGCTCTCGACCCCCTAGGGTTGTTATAAGGATGTTGTGGTTGGTCTCAATCTCCGTTCTTCAGGCTTATGTGACGGGGACCCGCAGCCTGCTGCACACCCTGCCTCTCCTCCTCAGGTACAAACATTCCCTTTCCTGGGCCGTGTGGCCGGCCTTTGCTCCAACATCCGGGACTCTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAGGTTGTCAGCATGGTGGGCCGCGTGCAGATGGACATGCTGCAGGTATGGGCGGGAGGTGGGGTGTGTCCCTGTCCTTGGAAGGCCACTGCCCAGGCCCGCAGCCCACCAGCCCACCCACCCACCTAGGTGCTGCTGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGAGCAGAAGGAGGACGTGCAGCACAGCATCATCACCGACCTGCAGGTGCCTGCTGCCTCCCTGACCTCTCACCCCAACCTCTGACCTCCACCTCACCCTTCCCCGGCCTCTGACCTCAACTTCACGCCCCCACGTCTGACCTCACTCTTTGACCTGCTGTTATGACCTGTGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTG
|
CAAACTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTTGATCTCCTGACCTTGTGATCCGTCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCTACTGCACCCAACCCCTTTTCTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCGATGGCACGATCGAGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGCCACCACGCCCCGCAAATTTTTGCTTTTTTGTTATTGTTTCTTGAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCGCCTCCCAGGGGGCGCTGGGGTGTAGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCCGCTTCCATGCCCGACTAATTTTGTATTTTTAGTAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCCAATCTCAGGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTTTTGTTTTTGTTTTTGTTTTTTTTAGCAGAGACTAGGTTTCATCATGTTGGCCAGGCTGGTCTCCATCCTCACCTCAGGTGATCTGCCCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCTAGCCCACATGTCCTCTTTGTGTAGTGACACCGTCGTGAGGTGAGGGCCCACCCCAGTGACCTCATCTTCACTTGACCCCCTGCGAAGACATATTTCCAAATGAGGTTACATTCTGAGGTGCCGGGGGTTAGGGCTTCAACATCTTTTGGGAGAACATGGTTCAGCCCTTAATGAGATATATTGCCTTATTTTCCTGCTTTTCTCTATGTCTGGCCAGCTTGGTAATGGAAAAACAAAACAGGCTGGGTGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGATGAGGCGAGAGGATCGATGGAGCCCAGGAGTTCAAGACCAGCCAGGGCAACATAGCAAGACCCTGCCTCTATTAAAGAGAAAACAAGAAAAAATCCATTCTAAAATACAGAACAAACTCTTAGGACCCCCAGTGTATATTCCACAGCGTGGCGCTGATGCCCGGGCCATGGTACTCCTCCTCCCCTTCCCTGGGTGTCCCTCACCCTCTGCCCTGTCCCCAGCTCAGGCTTCTTCTGGCCTCAGTCTCCCCCAGGCTGGGCCCCAGCACCCTGCAAGGCCTCCTGCAGCCAGGCGCCCTCCAGCGCCCTCAGCATCCATCTCAGCCCAGCTCCACGCCGCCTCCTGCCTCTGCCCCCACCTGGCCGCCTGCTCACAGTGTCCCCAAATCTCTTCCTGTTTCCTGCCTAGGTACAGCCCGCAGACACTGGGCTCCATCCTTGGCCCCCAGTCCATCAGGGCCCCTGACTCTCGCTATCCCAGCCTTGGCTGCAGCTTAGTCCTTACTCCGGACTCCCTCCCCAGTCTCCAGCCACCCACACCCAGCCCCAGACCGTCTTTCTGCCCCCAGGGTTGCTCTCGACCCCCTAGGGTTGTTATAAGGATGTTGTGGTTGGTCTCAATCTCCGTTCTTCAGGCTTATGTGACGGGGACCCGCAGCCTGCTGCACACCCTGCCTCTCCTCCTCAGGTACAAACATTCCCTTTCCTGGGCCGTGTGGCCGGCCTTTGCTCCAACATCCGGGACTCTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAGGTTGTCAGCATGGTGGGCCGCGTGCAGATGGACATGCTGCAGGTATGGGCGGGAGGTGGGGTGTGTCCCTGTCCTTGGAAGGCCACTGCCCAGGCCCGCAGCCCACCAGCCCACCCACCCACCCACCTAGGTGCTGCTGCGGGAGTACAAGCTCCGCTCCTACACGCTCAATGCCGTGAGCTTCCACTTCCTGGGCGAGCAGAAGGAGGACGTGCAGCACAGCATCATCACCGACCTGCAGGTGCCTGCTGCCTCCCTGACCTCTCACCCCAACCTCTGACCTCCACCTCACCCTTCCCCGGCCTCTGACCTCAACTTCACGCCCCCACGTCTGACCTCACTCTTTGACCTGCTGTTATGACCTGTGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAG
|
benign
| 308,846 |
Classify the chromosome 19 variant at position 50408690 affecting gene POLD1 (DNA polymerase delta 1, catalytic subunit) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
TGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCA
|
TGACCTTACCTGACGCCCACTTTTTCCTGACCTCTGACCCCAGATTTCTCTCCACTCCTGTGACCTCTGTCACTATGACCTTGTCTCTGCTTTCCTGGCCTGACCACAGGTCCACGGTGGCCTTCAGGCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAN
|
benign
| 308,961 |
Benign or pathogenic: chromosome 19, position 50408817, gene POLD1 (DNA polymerase delta 1, catalytic subunit) variant? Disease(s) if pathogenic?
|
pathogenic; ['Colorectal_cancer,_susceptibility_to,_10', 'Hereditary_cancer-predisposing_syndrome', 'Mandibular_hypoplasia-deafness-progeroid_syndrome', 'POLD1-related_disorder']
|
GCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAACCAGAGGCTCTCACCCAAGCTTTGGGGTCCAGGGTTTTTCTTGGGTGTCAGTCCTATAGGCATGGAGCACCCTGTGACTGGCCTTAGTGACTCCATCATCCCCAGGCCCCTCAGCAACCCCCAGAG
|
GCTGCTCCCTCCTCCTCCCTCTGGCCCTGTGGACTCCCTGGCCCCCAACCCTACCTCCATCCCCACCCAGACCCTGACGACTTGGAGGGCCCTCCTGCCCGCCTCACCTCCCAGGCCCTCCCCAGGCTACCTCACCCTGACCCCCACTTCCTTCTCCTGCTCCACCTCCCACCCCCAACCCCTGGTCCCTGACCCCATCCGTGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGGCTGTGTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGGAGCGGCTCATGGTGCTGGTGAACGCCGTGGAGATGGCGAGGGTCACTGGCGTGCCCCTCAGCTACCTGCTCAGTCGTGGCCAGCAGGTCAAGGTCGTATCCCAGCTGTTGCGGCAGGTCAGTAGCCGAGACTTGTCCTCGCCACCCCCCACCAGGCACGTCTGTGGCCCCCTCCAGGCAATGGCATCCTGGATGCACTTTTTCTCCCCACTCCCAATCCGCACGGCCCCACCTATACCCACTCCATTTCCCACCTTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGCCCCTCAAAGGGTGAGGCCCCAGGCTGGGTGCAGTTTTTACCTGTAATCTCTGGGAGGCTGAGGTGGGAGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCAGGGCAACATAGCGAGGCCCCTGCTCCACAAAATTTTTTTATTTTTATTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAACCAGAGGCTCTCACCCAAGCTTTGGGGTCCAGGGTTTTTCTTGGGTGTCAGTCCTATAGGCATGGAGCACCCTGTGACTGGCCTTAGTGACTCCATCATCCCCAGGCCCCTCAGCAACCCCCAGAGNNN
|
pathogenic
| 308,976 |
For chromosome 19, position 50409679, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
TCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGCCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAACCAGAGGCTCTCACCCAAGCTTTGGGGTCCAGGGTTTTTCTTGGGTGTCAGTCCTATAGGCATGGAGCACCCTGTGACTGGCCTTAGTGACTCCATCATCCCCAGGCCCCTCAGCAACCCCCAGAGGTCAAACTGATACTGCATGGCCCAGGGCCCTACCATAAACCATGTTAGTGTCAACTACCTGGTGTGGTTCAAAGTCCCAGGTACACAAACACCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTCTCACCCAGGCTGGAGCGCAGTGGCACAATCGTGGCTCACTGCAGCCTCAACCTCCGGGACTCAGGTGAGCCTCCCACGTTAGCCTCCCAAGTGGCTGGGACTGCGGGCACGTGCCACCTATTTTTGTTATTTTTTGTAGAGATAGGGTCTCGCCATGTTGCCCAGGCTGGAACAGAGACACTGTTATCAGGCGGGATATTCTAGGGGCTTAGACTACCAGGAGCCAGGCAAGAGCCAGACCTTTCTTTGCACAAAGTGAATCGCTCACTGCATGCTCCCAACTCCCCTCTGCCTTTCACAGTCCCCGGCTGCCTCCCCAGCCTCCTTGGTGGAAAGGGGTGGCTGTGTGGACATCAGGCTCTAGCCCTGAAGCAGAGGCCAGGCCAAGAGAGCACAGCTTGGCCCTCCCCTGGGGCTGCCTCTTACCAATCCTGTGTCTCTGTCTTTTCTCTCTCAGCCGCTTCCCTCTGTCACTGTTCTGTTTCTGTCTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCAG
|
TCACTGCAAGCTTTGCCTCCCGGGTTCACGCCATTCTCCTACCTCAGTCTCCACAGCAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGCATTTTTAGTAGGGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGAAAAAATTTTTAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATGATGAGCCCAGGAGGTGGAGGCTGCAGTGAGCGATGATTGCGCCACTGCCCTCCAGCCTGGGCGACAGAGCAACACCCCGGCCCTAAAATAAATTAATAGGCCAGGCACGGTGGCTCACCCCTGTAATCAATCCCAGCACTTTGGGAGGTCAAGGCAGGCGGATCACAAGTTCAGGAGATTGGGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGCGGGCGCCTGCAGTGCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAATAAAATAGTAGATTAATTATATATATTATTTTTCTTTTTCTTTTTCTTTTTTTGACACAGGGTCTCACTCTGTCACCCAGGGTGGAGTGCGGTGGCATGATCTTGGCTTACTCCACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGGCCCCTGAGTAGCTGGGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTAAAATTTTTTTGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGATCTGAAACTCCTGAGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAATGTGCTGGGATTGCAGGAGCGAGCACTGCTCCCAGCCAATGAATGATTTTTTTTTTTTAAAGGGTGAGGCCACAAGACAGGGCGGGGGCGGCATGGGAACTCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGGTACTACGACGTCCCCATCGCCACCCTGGACTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTGCACAGAAACTGGGGTATAGTGCCCAATTCAGCATGTGTCCCCCGAGGCCCATCTGGGCCTTCCCTTGGGGGGCTCAGTCTGGTGGGGGGCATAGGCACAGGCCCAGAGATAGTAGGGAGTGGAGGGGTGCTTGAGGGGCCTGCGTGTGCTCATGGCCAAGGCCAGGACCGTAGGGCAGAGGTGGGCTGGAGCAGGAGGGTGGCCGGCAGTCACCCCAACATCTTCCAACCCAGCCTGACTGAGGATCAGTTCATCAGGACCCCCACCGGGGACGAGTTTGTGAAGACCTCAGTGCGGAAGGGGCTGCTGCCCCAGATCCTGGAGAACCTGCTCAGTGCCCGGAAGAGGTGAGCCCTGGAGATCGCCTGCTTGGAGCTCAGACCTGTTGGGGCCTCTGGGCAATCCCTGTCCCTCACTGGGACACCCCAGGGCTGCCCAGCCACCCTGCCCTCAGCTGTGCGTGAATTAGCACAAGGCATCCCCTCCTGGCAGCTTCCTTTTGCCCCCTTGGCCAGAAGCTTCTGTGCAGTGCACAGTACGCCCAACCGTACATGGCACTCACTTCCAGAAAGGAGCCCTGACCAATGCCCAGGTGCCGCCTGAGTGTGCTTTCCCCGTGTTCCCTCGCAGGGCCAAGGCCGAGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGACGGCAGCTGGCGCTGAAGGTGAGCGCCAACTCCGTATACGGCTTCACTGGCGCCCAGGTGGGCAAGTTGCCGTGCCTGGAGATCTCACAGGTGGGCACTCGGGACCCCTGGAAGGCAACTGGGGGCAGGTGGGCCCCCTGTGTAGGAGACCAGGGCTCCATGTGGGGGACCTGTATCCAGAGGACTGGGCACCCCAACTCACTGGCCTTCTAGAGAGAGGATGCCAATGTGGCTTGAGCAATTGGTCCATTCCTTCACTCAGCAAATGCCTACTGAGCACACACTGTGGTCAGGGCTCACTCTGTGCCCTGGGGATACAGAGGGGAACAAAATGGATGAGAGCTCCTGTCCCTGTCATCTTGCAGCCCAGTGGGGACACTGACAGGTCTGTGTAAACGTGTTTAGGACACAAGTGGCGCTACGAGCTTTGCAGCCGGATAAAGCAGGAGGTGCGGACTGTCGGGGAGTGATGGGGCTGGGCGGGACTCACCCCTCTCAATAGGCGACGCTCACACAGAGGCCAAGGGACGTGGGGAGGGAAGCCATTCACCGTCCCCACGGCAGCGTCCCGGTCTGCCTACCCACGGCAGCTCTGCTGCTTGAACAGAAAAACAGATTCTTTGAAACCACAGAGGGCCTGAGTTTCCGAGATTGCCAAGCTGGGGTCAGTGCCCCAGCTCCTGGCATATGAGGGCCTCGGAAGGGTCTTCCTGTCCAGCCTTCTCCCCTGGGACTTGAGTCTTGGCCCATTCCAGGCCAGTAGTTGTGCTGCTCTGCTTGGTTACCTCTAGCCACGGGGAGCTCCCTCTCTGGCTGGGCACTGCGCCACTTTTCACAGGGCTCTGGGTGGAAGGCTTGGATGAATTCTCAGTGGGTGGGGCCTTTGCACACACCCACCCACCCGCAGTTCTGGGGGTCCCAAAGACCACTTAGGTTCAGTGATTCACTAGAAGTACTCAGAGAGCAGAAAAGCTGGTTCTCATGGTTATGATTTAATACAGCAAAAGGACACAGATTAAACTCAGCAAAAGAAAGAGGTGCACAGGGCAGGGTATAGGAGGGACCAGGCGTGTCTTCCAGTTGTGCTCTCCCAGTAGAGTTGCCAGGCTGGCCCTCCTTCCTCCCAGTTTTGATGCGTGCCTGCACACATGCAGCATTGCCAACCAGAGGCTCTCACCCAAGCTTTGGGGTCCAGGGTTTTTCTTGGGTGTCAGTCCTATAGGCATGGAGCACCCTGTGACTGGCCTTAGTGACTCCATCATCCCCAGGCCCCTCAGCAACCCCCAGAGGTCAAACTGATACTGCATGGCCCAGGGCCCTACCATAAACCATGTTAGTGTCAACTACCTGGTGTGGTTCAAAGTCCCAGGTACACAAACACCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTCTCACCCAGGCTGGAGCGCAGTGGCACAATCGTGGCTCACTGCAGCCTCAACCTCCGGGACTCAGGTGAGCCTCCCACGTTAGCCTCCCAAGTGGCTGGGACTGCGGGCACGTGCCACCTATTTTTGTTATTTTTTGTAGAGATAGGGTCTCGCCATGTTGCCCAGGCTGGAACAGAGACACTGTTATCAGGCGGGATATTCTAGGGGCTTAGACTACCAGGAGCCAGGCAAGAGCCAGACCTTTCTTTGCACAAAGTGAATCGCTCACTGCATGCTCCCAACTCCCCTCTGCCTTTCACAGTCCCCGGCTGCCTCCCCAGCCTCCTTGGTGGAAAGGGGTGGCTGTGTGGACATCAGGCTCTAGCCCTGAAGCAGAGGCCAGGCCAAGAGAGCACAGCTTGGCCCTCCCCTGGGGCTGCCTCTTACCAATCCTGTGTCTCTGTCTTTTCTCTCTCAGCCGCTTCCCTCTGTCACTGTTCTGTTTCTGTCTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCA
|
benign
| 309,065 |
Clinical significance of chromosome 19, position 50413531, gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
CTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCAGTGCGCTCCAGCCTGGGCAACAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAGTAATGAATTACAGTGTTCACGCCTGTAATCCCAACACTTTGTGACACTGAGGAGGGAGGATCACTTGAGGCCAGGGGTTTAAGACCAGCCTGGGCAACATAGTGAAACCCCATCTCTACAAAAAATACAACCAAACAAAACTAGCCAGGCATTGTGGTAGCTCATGCCTGTAGTTGCAGCTACTCAGGAGGCTGAGACGGGAAGATGGCTTGAACCCAGCAGTTTGAGTTACAGTAAGCTGTGATGGCATCACTGCACTCCATTCTGGGTGACAGAGTTGAGACCCTGTCTCTTTTAGTTTTTGTTTGTTTGTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGCCACAATCTTGGCTCACTGCGACCTCTCCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTTTTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACTGGTGTGAGTCACCACGCTTGGCCTCCTGTCTCTTAAAAAAAAAAAAAAATTGAATCATTTCAGGAAAAGATTACAAAGGAAAGAAAAAGGAACATAGGACAGGTGGAACAAGTAAAAGCTAGACAGTAAAGTGGTAGACGTAAGCCCAGCTATATCAGTAATTACACTAAATGTAAATGGACAAAATGCTCTAGTTAGACAGATTTCCTGACTGGATCCACACAAACAAAAACAGAAGAATCACACCCATCTCTCCTTGGTGTCCCCACCCCCAGCCTCAGGTTTGGTGGTGGTGGTGGTGGTGGTGGTGTTGTTGTTTAAGTATTTTTTAGTTTTGTGTGTGTGTGTGTGTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGTCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCAGCCACTTCAGCCTCCCAAAGTGCTGGGTGTACAGGCATAAGCCACCACGCCAGCTAGTTTTCTTAACTCTAAAATAAGACAGTGGGTTTCTCAATGGTTTCTTAGTCAGGGTGGTGCCACCCCCTGCTCTGGGGGGCATTTGTCAATGTGTAGGTAGGGCCAGTTCTGGTGGTACAGGGATGGGGGTGGCACTGCTGGCTTCCAGGGATGGGGCTGGCTATGTCGGTGGTCCTGTACCATAGAGAGCTGCCCAGAATGTCAGTGTGAGGGAAACACTGGGCCAGTGGCCTCTTCAGGCCGCAGTCTTTCCAGCATGCATTTGATGTAGTCACTTCCTTGTGCATGTCCAGAACTCTGAGCCAGGGAACCCACTTCTTTCCACCTGACCATTGAGGAGCCGCCTTATAGTCCCATTTTGCAGATTTGGGAACTGAGGCCCAGGAGGGGCAGAGTGGCTTGTACATAAGCCTATGCCACTGGGAAATGGCAGAGGCGGGACCCCTCCCCCGCCGGCCCACGTTCACTGCACATGGCCCCCAGGGCTTCACTCCGCATGATTCTCTCCCCGACAGAGCGTCACGGGGTTCGGACGTCAGATGATCGAGAAAACCAAGCAGCTGGTGGAGTCTAAGTACACAGTGGAGAATGGCTACAGCACCAGTGCCAAGGTCGGGGGCTGCCCACCGCTGCCCTGAGATGGGCCCAGGGCAGGTGGGGGGATGGAAGCCGGGCCGGACCCCCATGTCCCCGTGCCTCCTGGTCACACCCTGCCCACTCTCCTGTTGCATCCTTGGGTCCCGTTGGCATTAGCCACCTGCCACCCCCCGACACCAGTAGTTGACAGAAGGGACCCTGCTTCTCACATACACACATCCCCACCGCCCGCAGGTGGTGTATGGTGACACTGACTCCGTCATGTGCCGATTCGGCGTGTCCTCGGTGGCTGAGGCGATGGCCCTGGGGCGGGAGGCCGCGGACTGGGTGTCAGGTCACTTCCCGTCGCCCATCCGGCTGGAGTTTGAGAAGGTGCGTGGCTGGGTCAGGGGCTCTGCATTTAGGTGCCCTCATCAGGGTACTCAGGGTGTCCCGTTCTTTGGGTTCACAAAAGCCACAGTGTGAAGGGATGTTGCTGCTTAGATTCTCCTGAGGCTGGGGCCTTGGTTTGGGAAGCCTCCAAGGCCTTGGGCTTTGTTACCCTGGATGGCATCTGTTCTTTGAAAACCCTGTCGCTGTCCCTGGTTTTGAGGTGTCACAGTGTCCCTGGTTTTGAGGTTTCCCAGTACCTGTCAGATGTGGAGCTGCCCTCCACGCAGGGACCCTGATGGGGGTGCACCTTAGATCTGTGCACCATTGCCCCTGGCCCTCTGAGTGCGGCACACTTGGTCCCAGGAAACCTTGCACCATATTTTCTTTTGAAGAGTCTGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGTTCACAGCTCACTGCAGCCTCCAACTCCTGGGCTCCGGCGATCCTCCCGCCTTGGCCTCCTGAGCCGCCACGCCCAGTTCTCACACTGTACTGTTTCCCCGTGGCTTAACGCTCTCTCGTGCCAGGCCTTGGACTTGGAGCCTCGCAGAGTGGGGAGGTCTCTGCCTCAGGGCTCACCCAGCCGTAGTTTCTCCTCTCTTTCATGGGATGCTTCATCGACTCGCCTGTCTGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGA
|
CTCTTGACCTCTTTCCTTATTTCTGTCTCTCAAGCTTATGGGAGCAAGAGGTGGAATAATAAAAATGCAATGAATTGGCTGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAACATTAGCCAGGAGTGGTGGCAGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCAGTGCGCTCCAGCCTGGGCAACAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAGTAATGAATTACAGTGTTCACGCCTGTAATCCCAACACTTTGTGACACTGAGGAGGGAGGATCACTTGAGGCCAGGGGTTTAAGACCAGCCTGGGCAACATAGTGAAACCCCATCTCTACAAAAAATACAACCAAACAAAACTAGCCAGGCATTGTGGTAGCTCATGCCTGTAGTTGCAGCTACTCAGGAGGCTGAGACGGGAAGATGGCTTGAACCCAGCAGTTTGAGTTACAGTAAGCTGTGATGGCATCACTGCACTCCATTCTGGGTGACAGAGTTGAGACCCTGTCTCTTTTAGTTTTTGTTTGTTTGTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGCCACAATCTTGGCTCACTGCGACCTCTCCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCTGGCTAATTTTTGCATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACTGGTGTGAGTCACCACGCTTGGCCTCCTGTCTCTTAAAAAAAAAAAAAAATTGAATCATTTCAGGAAAAGATTACAAAGGAAAGAAAAAGGAACATAGGACAGGTGGAACAAGTAAAAGCTAGACAGTAAAGTGGTAGACGTAAGCCCAGCTATATCAGTAATTACACTAAATGTAAATGGACAAAATGCTCTAGTTAGACAGATTTCCTGACTGGATCCACACAAACAAAAACAGAAGAATCACACCCATCTCTCCTTGGTGTCCCCACCCCCAGCCTCAGGTTTGGTGGTGGTGGTGGTGGTGGTGGTGTTGTTGTTTAAGTATTTTTTAGTTTTGTGTGTGTGTGTGTGTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGTCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCAGCCACTTCAGCCTCCCAAAGTGCTGGGTGTACAGGCATAAGCCACCACGCCAGCTAGTTTTCTTAACTCTAAAATAAGACAGTGGGTTTCTCAATGGTTTCTTAGTCAGGGTGGTGCCACCCCCTGCTCTGGGGGGCATTTGTCAATGTGTAGGTAGGGCCAGTTCTGGTGGTACAGGGATGGGGGTGGCACTGCTGGCTTCCAGGGATGGGGCTGGCTATGTCGGTGGTCCTGTACCATAGAGAGCTGCCCAGAATGTCAGTGTGAGGGAAACACTGGGCCAGTGGCCTCTTCAGGCCGCAGTCTTTCCAGCATGCATTTGATGTAGTCACTTCCTTGTGCATGTCCAGAACTCTGAGCCAGGGAACCCACTTCTTTCCACCTGACCATTGAGGAGCCGCCTTATAGTCCCATTTTGCAGATTTGGGAACTGAGGCCCAGGAGGGGCAGAGTGGCTTGTACATAAGCCTATGCCACTGGGAAATGGCAGAGGCGGGACCCCTCCCCCGCCGGCCCACGTTCACTGCACATGGCCCCCAGGGCTTCACTCCGCATGATTCTCTCCCCGACAGAGCGTCACGGGGTTCGGACGTCAGATGATCGAGAAAACCAAGCAGCTGGTGGAGTCTAAGTACACAGTGGAGAATGGCTACAGCACCAGTGCCAAGGTCGGGGGCTGCCCAGGGCAGGTGGGGGGATGGAAGCCGGGCCGGACCCCCATGTCCCCGTGCCTCCTGGTCACACCCTGCCCACTCTCCTGTTGCATCCTTGGGTCCCGTTGGCATTAGCCACCTGCCACCCCCCGACACCAGTAGTTGACAGAAGGGACCCTGCTTCTCACATACACACATCCCCACCGCCCGCAGGTGGTGTATGGTGACACTGACTCCGTCATGTGCCGATTCGGCGTGTCCTCGGTGGCTGAGGCGATGGCCCTGGGGCGGGAGGCCGCGGACTGGGTGTCAGGTCACTTCCCGTCGCCCATCCGGCTGGAGTTTGAGAAGGTGCGTGGCTGGGTCAGGGGCTCTGCATTTAGGTGCCCTCATCAGGGTACTCAGGGTGTCCCGTTCTTTGGGTTCACAAAAGCCACAGTGTGAAGGGATGTTGCTGCTTAGATTCTCCTGAGGCTGGGGCCTTGGTTTGGGAAGCCTCCAAGGCCTTGGGCTTTGTTACCCTGGATGGCATCTGTTCTTTGAAAACCCTGTCGCTGTCCCTGGTTTTGAGGTGTCACAGTGTCCCTGGTTTTGAGGTTTCCCAGTACCTGTCAGATGTGGAGCTGCCCTCCACGCAGGGACCCTGATGGGGGTGCACCTTAGATCTGTGCACCATTGCCCCTGGCCCTCTGAGTGCGGCACACTTGGTCCCAGGAAACCTTGCACCATATTTTCTTTTGAAGAGTCTGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGTTCACAGCTCACTGCAGCCTCCAACTCCTGGGCTCCGGCGATCCTCCCGCCTTGGCCTCCTGAGCCGCCACGCCCAGTTCTCACACTGTACTGTTTCCCCGTGGCTTAACGCTCTCTCGTGCCAGGCCTTGGACTTGGAGCCTCGCAGAGTGGGGAGGTCTCTGCCTCAGGGCTCACCCAGCCGTAGTTTCTCCTCTCTTTCATGGGATGCTTCATCGACTCGCCTGTCTGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGANNNNNNNNNNNNNNNNNNNNNN
|
benign
| 309,091 |
Variant in gene POLD1 (DNA polymerase delta 1, catalytic subunit), located at chromosome 19 position 50416594: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
TGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCA
|
TGGATCTCATGTTTTAGGGACTATCTGGATTTATCCCAGTCTCTGTTTCAGATTGGGGTCTCTGGTGTGGGGGCTCTGGCATTGCCGAGGGGCCTCAGGAGCCACTTCCAGCCATACAGTGTCTCGGTCCATCCCACCAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCANNN
|
benign
| 309,290 |
Is the genetic change at chromosome 19, position 50416731, within gene POLD1 (DNA polymerase delta 1, catalytic subunit) benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
CAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATC
|
CAGGCTCAGGGCACGGCTCCCATGTCCTCAAACTGCGTCTGGGACCCTGTCTACCTTCAGTTTCTGGGGGGCGTCTCCAGATTGGGGCTTGGCCTCCTCAGGCTCAGGGTCTTGGCCATGGCTCCCTCCCAGGTCTACTTCCCATACCTGCTTATCAGCAAGAAGCGCTACGCGGGCCTGCTCTTCTCCTCCCGGCCCGACGCCCACGACCGCATGGACTGCAAGGGCCTGGAGGCCGTGCGCAGGGACAACTGCCCCCTCGTGGCCAACCTGGTCACTGCCTCACTGCGCCGCCTGCTCATCGACCGGTGTGTGGGGCCTCCTCCCTCAGACTCAGGGGGCTGGGCCCCAAACCCCTCCTCCCTCAGACCCAGGAGTCTAGGCCCCAGCCCCTCCTCCCTCAGACCCACGGGTCCAGGCCCCCAGCCCCCTCCTCCTCAGATCCCGGGGTCAGGGCCCCCAGCCCCTTCCTCTCTTAGATACAAGAGTCCAGACCCCCAGCCCCTCCTCCTCTGGGAACACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCN
|
benign
| 309,324 |
Assess the variant on chromosome 19, position 50417272, impacting POLD1 (DNA polymerase delta 1, catalytic subunit): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
benign
|
TCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATC
|
TCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCNNNNNNN
|
benign
| 309,360 |
Does the variant on chromosome 19 at location 50417278 affecting gene POLD1 (DNA polymerase delta 1, catalytic subunit) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAG
|
GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCTGTGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAG
|
benign
| 309,363 |
The genetic variant at chromosome 19, position 50417278, affecting gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAG
|
GTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGNNNNNNNN
|
benign
| 309,364 |
The chromosome 19, position 50417812 genetic variant in gene POLD1 (DNA polymerase delta 1, catalytic subunit): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
GACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACAGCTGCT
|
GACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACA
|
benign
| 309,371 |
Is the genetic change at chromosome 19, position 50417817, within gene POLD1 (DNA polymerase delta 1, catalytic subunit) benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACAGCTGCTGCCGC
|
CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACAGCTGC
|
benign
| 309,372 |
The mutation impacting POLD1 (DNA polymerase delta 1, catalytic subunit) on chromosome 19 at position 50417817: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCACAGCTGCTGCCGC
|
CGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATCTGTTCGCTCTGTATCTGGCATCTCCCAGCTCTCAACATTCTGCCTGTTGCTCTCTGTCTCTCTGCCTGTCTCTGTGTCTCTGTCTCCAGTTCTCGCTCTCCCTGCCTTTTGGTCTCCTTCTGCCTCACCCTCACTCTCAGTGCCTCCATCTGGGGCTCCAGGAATCCTCCCCGCCTCTGTGCGTGAATGTCCCTTTGCACACCTTTCTCTGTGTCCCACCTCTCCTTGAGCCTCCTCATCTGAGTCTTCTCCGGGCTTCCCCCTCTCTACCCAGACATCTCTCCATCCTTCTCCTCTGGTCCAAGCTGGACTCAACTGACTCGCCACCAAGGCCGCACTTGACCCAGGCCCCCTCTCCATCCCCACACCTCCTTTCCGGGACTTTCTCTCCCTCACTTTCCCTGCCCCTCCCCACCAGGGTGTCTATGCAAATTCTGGGGAGGAGGGGGACATTTGCCTCCCCCCCACCCCCCACTTCCTGTCCCAGCAGGGGGTAGTGGGGGAGTCCGGTGAATGTGGTGGGGCTGGTCCCTCACACAGGGCTGCGGTGGTCAC
|
benign
| 309,373 |
Gene EMC10 (ER membrane protein complex subunit 10) variant at chromosome 19, position 50479052—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Intellectual_disability', 'Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures']
|
CCAACGCTTAGGGAGGCCGAGGCGGGAGGATTGCTCTAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCGAGCCCTGTCTCTACAAAAAATACTAAAAAAAAAAAAAAAATTAGGCCGGTCGCGGTGGCTCATGCTTGTAATCCCAGCACTTCGGGAAGCCGAGGCGGGCGGACCACTTGAAGTCAGGAGTTCAAGACCAGCCTGCTCAAAATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGATGTGGTGGCAGGTGCCTGTAATTCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCTGAGATCACGCTACTGCACTCCAGCCTGGGCGACTGAGCGAGACCCTGTCTCAGAAAAAGAAAATAAGGCGTGGGAGGGGGCTCTTGAGGAAGTGGAGATGAGTTTTGTCTCCTAAATATGCGTGAGTATGCAAGTTTGGAGGTTGGAGAAAAGGAAAGCATGAATCTTGAATGTGCTTAATAGGGACTGAACTCAGGCTGCATCTTGGCTATTGGGCTGTCAGGTGATAAGGAGGCCATTTGAATATTAGCATGAAAAAGAAGGCTTGGGAGAGGGAGAGTGTCATTTAACTCATGAGTATTTGTGGCGCAAGGCTTGGAAGTGACCTTGGGATAGTTGCTTTGGCAATGAGGTTAGGCATGTTTGTAGGGTCTGGTTTTCTGGGGGTGAGGGAGTGCAGAGTATGAATATTCATGAAATGGGTGGTTTCTAGTGAAATAAAGGCAAGCAGCAGTGATTAACTTGAAGATAAGGCTCCTCCCTCAGCCCACCAGTCTGTCTGTCCTGGGTTCTGTGGGTGACTACTATGCTGAGGGCTTGGGTGGTCCTCACCTGGGGCCTTCTGTGTCCTCTGCAGGCTGGGGCGGAAGGTCGAGAGGGCGAGGCCTGTGGCACGGTGGGGCTGCTGCTGGAGCACTCATTTGAGATCGGTGAGTCAGGCAACGTCCTCTCCTAGACACTTAACATTGGTGCCCTGAGAAGTCAAGACTTGGAGTCTGGGTGCCTCCCGTCGTATGACATTTACTAACAACCATTTACTAACAGATTTGCCTCAGGTTAGGGGAAAGTGGGACATGAAAGAAGAGAAACACTCTTTAAATGCCCCCTTGCCTGTGAGACAAACCTCAGTTTTTAAAAGGTCATCACAGCAGTAATAATTTCAGAGCGGCTTTCCTGATCAGTCGCCACGTGCCCAGCATTAGCGGTTCCACGCTTTGCAAGTATTAACTCAGATGTCCTCACAGCAGCCATGTGAGGTGGTAGGTATTCGTGTCAGCCCCTTTTTCCAGAAGAGGAAACGGGCTCAGAGTAGGCACCACACAAGGTCTCATCGTGAGTGAGTGGCAGAGCAGGGGCCAGCTTCAAACCCAAACTTAAATTGCCATGATGCAGGTGTCCAGGTTCCCAGAGCTGGACGTCAGTGCTGCCCAGAGTGTAGTAATCGAGTCTGAGGCCCCGAACCTGAGGGCACAAACCCTGAAGCTGGTGCCCCTCTGCAAACCCTGGCATCTGCTCAGTGAACAGCTCCCCTGATTCTGACATGGCCAGGTAGTTGGGAATTCCTGAACTCCACAGCCTCCGTATTTTGCAGTTGGGGAAGCTGAGGCTCAGAGAGGTTGTGTGGCTATCCCTGGGTCACCTGGTGAGGCAGAGGCAGGATTTGGGAGCTGTGGGGTTCATGCATCTGCTACGGGTTGCCTTGTGAGGTGGAACATGGTGGAGGTGTCCCCACTTTGCAGATAGCAAAATGGGGGCCCAGATGGGGAGGGAACCTGGTCACTCGGGTGGAGGCCAGGCCAAAATTTGAAGCTGGACCTCCTGGCCCCTGCCTGGGTTGAAGGGTGGGCGGGGGAGGGGGCGTCTCTGAACCTGAGCTCCTCACAGATGACAGTGCCAACTTCCGGAAGCGGGGCTCACTGCTCTGGAACCAGCAGGATGGTACCTTGTCCCTGTCACAGCGGCAGCTCAGCGAGGAGGAGCGGGGCCGACTCCGGGTGAGGTGGGGCCCTCAGGGCTGGGTGTGGATGGGGATGGAGGGTTTCCAGCTGTCTCTTCAGCCACCCCCTGCTGGTCCCCAGCAGCCTTCCCTCCAGGCCCAGGTGGGCTCCCAGCACCACCTGCCACTCTCAGCCTCTGTCCTCAATGACTGCCCCTGGAGGAACGGCATTGCAGTTCGTCTTAGCGCCGCCAGGCATGGTGTCCTGCATCACGGCCTCTTCCTGCACTGCTCCCTCTGCTGGCAGACCCCCTTCCCCTGCAGGTTCACACAGTCGGCTCCTCTTCTTTTCCAGATCAGCTGAGCTGTTTCATGACCACTTAGATGAGATTTGTTTGTGAGGAGAAAGCCTCAAAATAGCTATGGTTGGACAGGAGCTCACTTCTGTCGCCCTGTGTTGTGGCAGCCTCAAGGGCCCAGCTCAATCCTCCGCAGGGGTCATGCAGAGAGGCCCCAGGGCTCCAGGCAGCAGGATAGAGAGGGAGAAAGAGGGGCAGAAGGAGCAGCAGCATTTAGAGAAAGCTTGCAAAAGCTGGCACAACCCACTTCCACCCATCAGCCAGATGTAGCTGTGAGGGAGGCTGGGGAGTGCAGGCTTGATTCTGGTGGCCACGCGGTGAGGTCTGCCTGAGCACCCTTCCTGCATGGTACCCACATGATTCTCTTGTCACAGCTGTCCCCAAACAGAATTTATTATGCATGTAACTGGTACGTCCAGGCATAGGGTGGACGCCAGGTGCAGCTGGATCCAGGCACAGGGAAGGCGTCCTCAGGACCCACTCCATCGCTGGGCTGGGCTTTGCCCTCCTTGTGGTGGCTTTTCCCCTAGGTGGGGCGGTCCCAGCTGCTCCTGGCCTCACCCACCAGCCGGGCCACCCCAACAGGAAGAGTCCTGGGTCGACTCAGGTTGGCTGGCCTGGGGAGTGTGGGCCGTGAGGTGGGTGGGGCTGGAGAGGGGCCTTCGCGGAGGCCTGGTGGGCATCACAGCCTGTCCAGGGCTGACACCATCCTTCTGACCAGCACCCTCTTCTCCCATCCCCAGGATGTGGCAGCCCTGAATGGCCTGTACCGGGTCCGGATCCCAAGGCGACCCGGGGCCCTGGATGGCCTGGAAGCTGGTGGCTATGTCTCCTCCTTTGTCCCTGCGGTGAGTTGGTGTCGGGGATGAGCCCCCTTCTCCCTCGTCCTCCTCATCCCCTACCCTGGTCCTGCTTCCACCATTCGAACCCCTGTGTTTCTGGAGCCCGCAGAGGCCTGGGAGACTCAGACCTGGCCTTGCCTTCCGAGGCCTCCTGGTCTGGAGGGGTCGGTCCAGGTAGCGGGTGCTTTCATGGGGATAGCATTGTGAGGACTCCCGGGTGGGGGGCGGTTGAACTTGGGCCTGAGGGTAACAGGGAGCCATGGGAAGGTTTTGAAAAATGCTCCGGGGGTCCTGTGGTGGGGGCCGGGGGAGGTTAGGGTGGAGCCCAGGCAGCAGGCTCCCCACCTCCACTGACCCCACTCCCCCCACAGTGCTCCCTGGTGGAGTCGCACCTGTCGGACCAGCTGACCCTGCACGTGGATGTGGCCGGCAACGTGGTGGGCGTGTCGGTGGTGACGCACCCCGGGGGCTGCCGGGGCCATGAGGTGGAGGACGTGGACCTGGAGCTGTTCAACACCTCGGTGCAGCTGCAGCCGCCCACCACAGCCCCAGGGTGAGCCTCTGCTGCCTTCGCGGCGCTCTTGCCACCTGCCCCGGCCCTTCCTGGCGGCCTCAGGGTCTCCAGGTCCCTGGACTCCGGGCCTCACCCTTCTCCTCCTCTCCCCTTGCCCCAGCCCTGAGACGGCGGCCTTCATTGAGCGCCTGGAGATGGAACAGGCCCAGAAGGCCAAGAACCCCCAGGAGCAGAAGTCCTTCTTCGCCAAATACGTGAGTGGGGCTCCCCCGCCTCCCCTATTCCCTTCCTGACAGTCCCGGTGCCTGGCCAGGCCCTCCATGCTCCCACCCAGACTCCCCTATGGTGCTCGGGCCTGCTCCTTGTCCTCCGGGCC
|
CCAACGCTTAGGGAGGCCGAGGCGGGAGGATTGCTCTAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCGAGCCCTGTCTCTACAAAAAATACTAAAAAAAAAAAAAAAATTAGGCCGGTCGCGGTGGCTCATGCTTGTAATCCCAGCACTTCGGGAAGCCGAGGCGGGCGGACCACTTGAAGTCAGGAGTTCAAGACCAGCCTGCTCAAAATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGATGTGGTGGCAGGTGCCTGTAATTCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGGGAGCTGAGATCACGCTACTGCACTCCAGCCTGGGCGACTGAGCGAGACCCTGTCTCAGAAAAAGAAAATAAGGCGTGGGAGGGGGCTCTTGAGGAAGTGGAGATGAGTTTTGTCTCCTAAATATGCGTGAGTATGCAAGTTTGGAGGTTGGAGAAAAGGAAAGCATGAATCTTGAATGTGCTTAATAGGGACTGAACTCAGGCTGCATCTTGGCTATTGGGCTGTCAGGTGATAAGGAGGCCATTTGAATATTAGCATGAAAAAGAAGGCTTGGGAGAGGGAGAGTGTCATTTAACTCATGAGTATTTGTGGCGCAAGGCTTGGAAGTGACCTTGGGATAGTTGCTTTGGCAATGAGGTTAGGCATGTTTGTAGGGTCTGGTTTTCTGGGGGTGAGGGAGTGCAGAGTATGAATATTCATGAAATGGGTGGTTTCTAGTGAAATAAAGGCAAGCAGCAGTGATTAACTTGAAGATAAGGCTCCTCCCTCAGCCCACCAGTCTGTCTGTCCTGGGTTCTGTGGGTGACTACTATGCTGAGGGCTTGGGTGGTCCTCACCTGGGGCCTTCTGTGTCCTCTGCAGGCTGGGGCGGAAGGTCGAGAGGGCGAGGCCTGTGGCACGGTGGGGCTGCTGCTGGAGCACTCATTTGAGATCGGTGAGTCAGGCAACGTCCTCTCCTAGACACTTAACATTGGTGCCCTGAGAAGTCAAGACTTGGAGTCTGGGTGCCTCCCGTCGTATGACATTTACTAACAACCATTTACTAACAGATTTGCCTCAGGTTAGGGGAAAGTGGGACATGAAAGAAGAGAAACACTCTTTAAATGCCCCCTTGCCTGTGAGACAAACCTCAGTTTTTAAAAGGTCATCACAGCAGTAATAATTTCAGAGCGGCTTTCCTGATCAGTCGCCACGTGCCCAGCATTAGCGGTTCCACGCTTTGCAAGTATTAACTCAGATGTCCTCACAGCAGCCATGTGAGGTGGTAGGTATTCGTGTCAGCCCCTTTTTCCAGAAGAGGAAACGGGCTCAGAGTAGGCACCACACAAGGTCTCATCGTGAGTGAGTGGCAGAGCAGGGGCCAGCTTCAAACCCAAACTTAAATTGCCATGATGCAGGTGTCCAGGTTCCCAGAGCTGGACGTCAGTGCTGCCCAGAGTGTAGTAATCGAGTCTGAGGCCCCGAACCTGAGGGCACAAACCCTGAAGCTGGTGCCCCTCTGCAAACCCTGGCATCTGCTCAGTGAACAGCTCCCCTGATTCTGACATGGCCAGGTAGTTGGGAATTCCTGAACTCCACAGCCTCCGTATTTTGCAGTTGGGGAAGCTGAGGCTCAGAGAGGTTGTGTGGCTATCCCTGGGTCACCTGGTGAGGCAGAGGCAGGATTTGGGAGCTGTGGGGTTCATGCATCTGCTACGGGTTGCCTTGTGAGGTGGAACATGGTGGAGGTGTCCCCACTTTGCAGATAGCAAAATGGGGGCCCAGATGGGGAGGGAACCTGGTCACTCGGGTGGAGGCCAGGCCAAAATTTGAAGCTGGACCTCCTGGCCCCTGCCTGGGTTGAAGGGTGGGCGGGGGAGGGGGCGTCTCTGAACCTGAGCTCCTCACAGATGACAGTGCCAACTTCCGGAAGCGGGGCTCACTGCTCTGGAACCAGCAGGATGGTACCTTGTCCCTGTCACAGCGGCAGCTCAGCGAGGAGGAGCGGGCCGACTCCGGGTGAGGTGGGGCCCTCAGGGCTGGGTGTGGATGGGGATGGAGGGTTTCCAGCTGTCTCTTCAGCCACCCCCTGCTGGTCCCCAGCAGCCTTCCCTCCAGGCCCAGGTGGGCTCCCAGCACCACCTGCCACTCTCAGCCTCTGTCCTCAATGACTGCCCCTGGAGGAACGGCATTGCAGTTCGTCTTAGCGCCGCCAGGCATGGTGTCCTGCATCACGGCCTCTTCCTGCACTGCTCCCTCTGCTGGCAGACCCCCTTCCCCTGCAGGTTCACACAGTCGGCTCCTCTTCTTTTCCAGATCAGCTGAGCTGTTTCATGACCACTTAGATGAGATTTGTTTGTGAGGAGAAAGCCTCAAAATAGCTATGGTTGGACAGGAGCTCACTTCTGTCGCCCTGTGTTGTGGCAGCCTCAAGGGCCCAGCTCAATCCTCCGCAGGGGTCATGCAGAGAGGCCCCAGGGCTCCAGGCAGCAGGATAGAGAGGGAGAAAGAGGGGCAGAAGGAGCAGCAGCATTTAGAGAAAGCTTGCAAAAGCTGGCACAACCCACTTCCACCCATCAGCCAGATGTAGCTGTGAGGGAGGCTGGGGAGTGCAGGCTTGATTCTGGTGGCCACGCGGTGAGGTCTGCCTGAGCACCCTTCCTGCATGGTACCCACATGATTCTCTTGTCACAGCTGTCCCCAAACAGAATTTATTATGCATGTAACTGGTACGTCCAGGCATAGGGTGGACGCCAGGTGCAGCTGGATCCAGGCACAGGGAAGGCGTCCTCAGGACCCACTCCATCGCTGGGCTGGGCTTTGCCCTCCTTGTGGTGGCTTTTCCCCTAGGTGGGGCGGTCCCAGCTGCTCCTGGCCTCACCCACCAGCCGGGCCACCCCAACAGGAAGAGTCCTGGGTCGACTCAGGTTGGCTGGCCTGGGGAGTGTGGGCCGTGAGGTGGGTGGGGCTGGAGAGGGGCCTTCGCGGAGGCCTGGTGGGCATCACAGCCTGTCCAGGGCTGACACCATCCTTCTGACCAGCACCCTCTTCTCCCATCCCCAGGATGTGGCAGCCCTGAATGGCCTGTACCGGGTCCGGATCCCAAGGCGACCCGGGGCCCTGGATGGCCTGGAAGCTGGTGGCTATGTCTCCTCCTTTGTCCCTGCGGTGAGTTGGTGTCGGGGATGAGCCCCCTTCTCCCTCGTCCTCCTCATCCCCTACCCTGGTCCTGCTTCCACCATTCGAACCCCTGTGTTTCTGGAGCCCGCAGAGGCCTGGGAGACTCAGACCTGGCCTTGCCTTCCGAGGCCTCCTGGTCTGGAGGGGTCGGTCCAGGTAGCGGGTGCTTTCATGGGGATAGCATTGTGAGGACTCCCGGGTGGGGGGCGGTTGAACTTGGGCCTGAGGGTAACAGGGAGCCATGGGAAGGTTTTGAAAAATGCTCCGGGGGTCCTGTGGTGGGGGCCGGGGGAGGTTAGGGTGGAGCCCAGGCAGCAGGCTCCCCACCTCCACTGACCCCACTCCCCCCACAGTGCTCCCTGGTGGAGTCGCACCTGTCGGACCAGCTGACCCTGCACGTGGATGTGGCCGGCAACGTGGTGGGCGTGTCGGTGGTGACGCACCCCGGGGGCTGCCGGGGCCATGAGGTGGAGGACGTGGACCTGGAGCTGTTCAACACCTCGGTGCAGCTGCAGCCGCCCACCACAGCCCCAGGGTGAGCCTCTGCTGCCTTCGCGGCGCTCTTGCCACCTGCCCCGGCCCTTCCTGGCGGCCTCAGGGTCTCCAGGTCCCTGGACTCCGGGCCTCACCCTTCTCCTCCTCTCCCCTTGCCCCAGCCCTGAGACGGCGGCCTTCATTGAGCGCCTGGAGATGGAACAGGCCCAGAAGGCCAAGAACCCCCAGGAGCAGAAGTCCTTCTTCGCCAAATACGTGAGTGGGGCTCCCCCGCCTCCCCTATTCCCTTCCTGACAGTCCCGGTGCCTGGCCAGGCCCTCCATGCTCCCACCCAGACTCCCCTATGGTGCTCGGGCCTGCTCCTTGTCCTCCGGGCCN
|
pathogenic
| 309,405 |
Evaluate if the mutation on chromosome 19 at position 51354304 in ETFB (electron transfer flavoprotein subunit beta) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency']
|
CCTCTTCTGCTCATAGAACTCCCATAGCTCCCCAGTGCCCTCCAAAATTCTCAAGTCTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGCTCCCAGGCAGGAGTGCAGTGGTGCCTGGAGTGCAGTGGTGCGATCTTGTATCACTGCAACCTCCGCCTCCCAGGTTCCAGTGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGTGATACCACACCCGGCTAATTTTTATATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCACGCTAATCTCAAACTCTCGACCTCAAGTGATCCACTGGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAACCACCGTGCCTGGCCCAAGAGGATCTTTCTAACACCCAGAGGGACTCTGTCCTCCCTGCTCAAACTCTCTGTCAGAAGGGTCAGCAAAGTCCCAAGCTGCTCAGCCTGGAGTGGTGAATGCCCTGGGCCTGGCCAGCTGCTGTCTCACCCCGTATCTCCACCACCCTCCTCCCGAGCAGGGATGAGCAAGGGGGCACAGGGAGGGCTGACCACAGCTACCTGTTTGCCCAGCAGCACCAGGTCCACCTTCTCCTTCTCTGCCAGCTTGGCCAGGACCCGAGCCACCTGCAGGGGACCCAAGCGTTCTGCTTCTGCTGGGGGCACCTCCACGTGGATACCTCGGTCTGCACCCATGGCCAGGGCGGTACGAATCGTCTCCTGCCAAGGACAGAGGGGCTTGACTTGGCTGCTATCCTCAGGGGGACCTAGGAGTCTGGCTCGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCTTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTCCGTCAGACCCAGGAGTCCAGCCCCCTCCCCAAGACCTTCATCACCTGGCACTGTGCAGGCCCACAGCTGACGGCGATGACCTCCTTCACCAGCTTCTTCTCCTTGAGCCGCACAGCCTCCTCCACCGCGATCTCACAGAAGGGGTTCATGGAGTGCTTCACACCATCCGTGACCACACCGGTCCTGTCAGGCTTCACTCGGATCTGCCCAGCAGGAGGGGAAGGGGTGGGGTCAGGAGGAAACAGGCAAGAAGGTGGGGGCCTCAGCGCCAACCCTCTCCCAGGCTGGATGAGGACAACGACAGCCTGGAAAGGGGCAGGGCCTTGTCCGGGGTCACACAGCTCCAGGGACAGAACTGGGTTAGAGTTTGTAGGCAGGGGCAGGTCACCCTGTCTCCTTCTCTCATCCAGCCATTCCTGGGTACCAGGGACATCTGACTTGATCATCCCTACTGTTGTCACTGCTCCTCTCAGGCCTGAAAGAGTGTTTCTCAAATTTACAGTATTTATGGTAACCCACAGTGAGAGGTACATTTTACTGTATCTCCAAGTGTATATAAATACATAATACACTGATACATAAATACAAATGAGGAGAAGAAAAGGAAAAACCAGTTAGGTAGACAGTTAAGGGTGGTCCTCAGAGGAGCAGCCTGCCTGAAAAATCACAGCTACAGGCAACAATAGAGCAGCCTGGGGAAAACTCAAGCTGCCCAGCACAGAAGCCTTTTGTTCTTTGCGTGACTGACAGGCTCCCAGGAAAAGTTCCCTCCCCTTTTCAGGCACGTACATGGTGGTCTCTGTGGGAACTTGCACGGGGAGGGGCGGAGCTTACCTAAAACAAACCCACGGTTACAGAAACAAGAGAAGCGGAGCTTTGTGCTTGCCTAAAGACGTACCCACAACTACATAGATAACGGAGAGTTATGCAGATAGCTTTACAGATAAGATACTCAAACAGCTACAGAGATGAAAGGAGTTTCTTATAAAAGCTTTTGGTGTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAGCCTACTCATCTGACAAATGGCTAATATCCAGAATCTACAATGAACTCAAACAAATGTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAATCACAATGAGATACCGTCTCACACCAGTTAGAACGGCGATCATTAAAAAGTCAGGAAAGAACAGGTGCTGGAGAGGATGTGGAGAAAAAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCGGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCTATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGTAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAACAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAAACAACGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTCGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAAGGACGAGTTACTGGGTGCAGCACACCAACATGGCACATATAAACACATGTAACAAACCTGTACGTTGTGCACATGTATCCTAAAACTTAAAGTATAATAATAAAAAATAAATAAATAAATAATTTTTTAAAAAAAAAGCTTTTGGAATCAACTGTAAAAATGGCAACCCGCTTGGGCTTCCCTCTCCTCTGTGGAGAGCTTTCTTCTTTTGCTTATTAAACTTTCGCTCCAACCTCACCTTTTGGGTGGTCTATGCTCTTTAATTCTCTTGGTTGTGAAACGAGCTCGGATAACACCTTAGACAACGTGACCAGTGACCCTGACCTATTTCACAAATGCCACTGCAGTGTAAGGGTC
|
CCTCTTCTGCTCATAGAACTCCCATAGCTCCCCAGTGCCCTCCAAAATTCTCAAGTCTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGCTCCCAGGCAGGAGTGCAGTGGTGCCTGGAGTGCAGTGGTGCGATCTTGTATCACTGCAACCTCCGCCTCCCAGGTTCCAGTGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGTGATACCACACCCGGCTAATTTTTATATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCACGCTAATCTCAAACTCTCGACCTCAAGTGATCCACTGGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAACCACCGTGCCTGGCCCAAGAGGATCTTTCTAACACCCAGAGGGACTCTGTCCTCCCTGCTCAAACTCTCTGTCAGAAGGGTCAGCAAAGTCCCAAGCTGCTCAGCCTGGAGTGGTGAATGCCCTGGGCCTGGCCAGCTGCTGTCTCACCCCGTATCTCCACCACCCTCCTCCCGAGCAGGGATGAGCAAGGGGGCACAGGGAGGGCTGACCACAGCTACCTGTTTGCCCAGCAGCACCAGGTCCACCTTCTCCTTCTCTGCCAGCTTGGCCAGGACCCGAGCCACCTGCAGGGGACCCAAGCGTTCTGCTTCTGCTGGGGGCACCTCCACGTGGATACCTCGGTCTGCACCCATGGCCAGGGCGGTACGAATCGTCTCCTGCCAAGGACAGAGGGGCTTGACTTGGCTGCTATCCTCAGGGGGACCTAGGAGTCTGGCTCGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCTTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTCCGTCAGACCCAGGAGTCCAGCCCCCTCCCCAAGACCTTCATCACCTGGCACTGTGCAGGCCCACAGCTGACGGCGATGACCTCCTTCACCAGCTTCTTCTCCTTGAGCCGCACAGCCTCCTCCACCGCGATCTCACAGAAGGGGTTCATGGAGTGCTTCACACCATCCGTGACCACACCGGTCCTGTCAGGCTTCACTCGATCTGCCCAGCAGGAGGGGAAGGGGTGGGGTCAGGAGGAAACAGGCAAGAAGGTGGGGGCCTCAGCGCCAACCCTCTCCCAGGCTGGATGAGGACAACGACAGCCTGGAAAGGGGCAGGGCCTTGTCCGGGGTCACACAGCTCCAGGGACAGAACTGGGTTAGAGTTTGTAGGCAGGGGCAGGTCACCCTGTCTCCTTCTCTCATCCAGCCATTCCTGGGTACCAGGGACATCTGACTTGATCATCCCTACTGTTGTCACTGCTCCTCTCAGGCCTGAAAGAGTGTTTCTCAAATTTACAGTATTTATGGTAACCCACAGTGAGAGGTACATTTTACTGTATCTCCAAGTGTATATAAATACATAATACACTGATACATAAATACAAATGAGGAGAAGAAAAGGAAAAACCAGTTAGGTAGACAGTTAAGGGTGGTCCTCAGAGGAGCAGCCTGCCTGAAAAATCACAGCTACAGGCAACAATAGAGCAGCCTGGGGAAAACTCAAGCTGCCCAGCACAGAAGCCTTTTGTTCTTTGCGTGACTGACAGGCTCCCAGGAAAAGTTCCCTCCCCTTTTCAGGCACGTACATGGTGGTCTCTGTGGGAACTTGCACGGGGAGGGGCGGAGCTTACCTAAAACAAACCCACGGTTACAGAAACAAGAGAAGCGGAGCTTTGTGCTTGCCTAAAGACGTACCCACAACTACATAGATAACGGAGAGTTATGCAGATAGCTTTACAGATAAGATACTCAAACAGCTACAGAGATGAAAGGAGTTTCTTATAAAAGCTTTTGGTGTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAGCCTACTCATCTGACAAATGGCTAATATCCAGAATCTACAATGAACTCAAACAAATGTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAATCACAATGAGATACCGTCTCACACCAGTTAGAACGGCGATCATTAAAAAGTCAGGAAAGAACAGGTGCTGGAGAGGATGTGGAGAAAAAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCGGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCTATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGTAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAACAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAAACAACGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTCGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAAGGACGAGTTACTGGGTGCAGCACACCAACATGGCACATATAAACACATGTAACAAACCTGTACGTTGTGCACATGTATCCTAAAACTTAAAGTATAATAATAAAAAATAAATAAATAAATAATTTTTTAAAAAAAAAGCTTTTGGAATCAACTGTAAAAATGGCAACCCGCTTGGGCTTCCCTCTCCTCTGTGGAGAGCTTTCTTCTTTTGCTTATTAAACTTTCGCTCCAACCTCACCTTTTGGGTGGTCTATGCTCTTTAATTCTCTTGGTTGTGAAACGAGCTCGGATAACACCTTAGACAACGTGACCAGTGACCCTGACCTATTTCACAAATGCCACTGCAGTGTAAGGGTCN
|
pathogenic
| 309,526 |
Mutation at chromosome 19, position 51354360, within ETFB (electron transfer flavoprotein subunit beta): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
CTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGCTCCCAGGCAGGAGTGCAGTGGTGCCTGGAGTGCAGTGGTGCGATCTTGTATCACTGCAACCTCCGCCTCCCAGGTTCCAGTGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGTGATACCACACCCGGCTAATTTTTATATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCACGCTAATCTCAAACTCTCGACCTCAAGTGATCCACTGGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAACCACCGTGCCTGGCCCAAGAGGATCTTTCTAACACCCAGAGGGACTCTGTCCTCCCTGCTCAAACTCTCTGTCAGAAGGGTCAGCAAAGTCCCAAGCTGCTCAGCCTGGAGTGGTGAATGCCCTGGGCCTGGCCAGCTGCTGTCTCACCCCGTATCTCCACCACCCTCCTCCCGAGCAGGGATGAGCAAGGGGGCACAGGGAGGGCTGACCACAGCTACCTGTTTGCCCAGCAGCACCAGGTCCACCTTCTCCTTCTCTGCCAGCTTGGCCAGGACCCGAGCCACCTGCAGGGGACCCAAGCGTTCTGCTTCTGCTGGGGGCACCTCCACGTGGATACCTCGGTCTGCACCCATGGCCAGGGCGGTACGAATCGTCTCCTGCCAAGGACAGAGGGGCTTGACTTGGCTGCTATCCTCAGGGGGACCTAGGAGTCTGGCTCGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCTTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTCCGTCAGACCCAGGAGTCCAGCCCCCTCCCCAAGACCTTCATCACCTGGCACTGTGCAGGCCCACAGCTGACGGCGATGACCTCCTTCACCAGCTTCTTCTCCTTGAGCCGCACAGCCTCCTCCACCGCGATCTCACAGAAGGGGTTCATGGAGTGCTTCACACCATCCGTGACCACACCGGTCCTGTCAGGCTTCACTCGGATCTGCCCAGCAGGAGGGGAAGGGGTGGGGTCAGGAGGAAACAGGCAAGAAGGTGGGGGCCTCAGCGCCAACCCTCTCCCAGGCTGGATGAGGACAACGACAGCCTGGAAAGGGGCAGGGCCTTGTCCGGGGTCACACAGCTCCAGGGACAGAACTGGGTTAGAGTTTGTAGGCAGGGGCAGGTCACCCTGTCTCCTTCTCTCATCCAGCCATTCCTGGGTACCAGGGACATCTGACTTGATCATCCCTACTGTTGTCACTGCTCCTCTCAGGCCTGAAAGAGTGTTTCTCAAATTTACAGTATTTATGGTAACCCACAGTGAGAGGTACATTTTACTGTATCTCCAAGTGTATATAAATACATAATACACTGATACATAAATACAAATGAGGAGAAGAAAAGGAAAAACCAGTTAGGTAGACAGTTAAGGGTGGTCCTCAGAGGAGCAGCCTGCCTGAAAAATCACAGCTACAGGCAACAATAGAGCAGCCTGGGGAAAACTCAAGCTGCCCAGCACAGAAGCCTTTTGTTCTTTGCGTGACTGACAGGCTCCCAGGAAAAGTTCCCTCCCCTTTTCAGGCACGTACATGGTGGTCTCTGTGGGAACTTGCACGGGGAGGGGCGGAGCTTACCTAAAACAAACCCACGGTTACAGAAACAAGAGAAGCGGAGCTTTGTGCTTGCCTAAAGACGTACCCACAACTACATAGATAACGGAGAGTTATGCAGATAGCTTTACAGATAAGATACTCAAACAGCTACAGAGATGAAAGGAGTTTCTTATAAAAGCTTTTGGTGTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAGCCTACTCATCTGACAAATGGCTAATATCCAGAATCTACAATGAACTCAAACAAATGTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAATCACAATGAGATACCGTCTCACACCAGTTAGAACGGCGATCATTAAAAAGTCAGGAAAGAACAGGTGCTGGAGAGGATGTGGAGAAAAAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCGGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCTATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGTAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAACAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAAACAACGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTCGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAAGGACGAGTTACTGGGTGCAGCACACCAACATGGCACATATAAACACATGTAACAAACCTGTACGTTGTGCACATGTATCCTAAAACTTAAAGTATAATAATAAAAAATAAATAAATAAATAATTTTTTAAAAAAAAAGCTTTTGGAATCAACTGTAAAAATGGCAACCCGCTTGGGCTTCCCTCTCCTCTGTGGAGAGCTTTCTTCTTTTGCTTATTAAACTTTCGCTCCAACCTCACCTTTTGGGTGGTCTATGCTCTTTAATTCTCTTGGTTGTGAAACGAGCTCGGATAACACCTTAGACAACGTGACCAGTGACCCTGACCTATTTCACAAATGCCACTGCAGTGTAAGGGTCAGTGACCAATACTGACCCTGCCTACACACACACCATACTCTGACATTTTCTACCCT
|
CTTTGTTTCAAGCCCAGGCCTGTCTCCTGAACCTGCATCGATGTCTCCTGGGCTCTTCACACTCCCCTTGTAGGATCCTCCTCTAACCTCCTGTTCTTCCTGGGTTTCCTACCTGTGTTACCAAGGCAGACCCAGGCACTGTCCTTGCCTCCTCCCTGCCCTCCCTCCCCATGCTAAGCCCAGTCTCTCCTGCCACATCATGTCTCTGCTCTGTCCTGTCACCTTTGGCTGAGGCCTCATTCTCCCCCATGTGACCATCACCTCGGCCTCCCAGCCTCTAAACTCACCCAAAAGGATCTTTCTTCTTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGCTCCCAGGCAGGAGTGCAGTGGTGCCTGGAGTGCAGTGGTGCGATCTTGTATCACTGCAACCTCCGCCTCCCAGGTTCCAGTGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGTGATACCACACCCGGCTAATTTTTATATTTTTAGAAGAGATGGGGTTTCACCATGTTGGCCACGCTAATCTCAAACTCTCGACCTCAAGTGATCCACTGGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAACCACCGTGCCTGGCCCAAGAGGATCTTTCTAACACCCAGAGGGACTCTGTCCTCCCTGCTCAAACTCTCTGTCAGAAGGGTCAGCAAAGTCCCAAGCTGCTCAGCCTGGAGTGGTGAATGCCCTGGGCCTGGCCAGCTGCTGTCTCACCCCGTATCTCCACCACCCTCCTCCCGAGCAGGGATGAGCAAGGGGGCACAGGGAGGGCTGACCACAGCTACCTGTTTGCCCAGCAGCACCAGGTCCACCTTCTCCTTCTCTGCCAGCTTGGCCAGGACCCGAGCCACCTGCAGGGGACCCAAGCGTTCTGCTTCTGCTGGGGGCACCTCCACGTGGATACCTCGGTCTGCACCCATGGCCAGGGCGGTACGAATCGTCTCCTGCCAAGGACAGAGGGGCTTGACTTGGCTGCTATCCTCAGGGGGACCTAGGAGTCTGGCTCGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAGTCCGGGCCCCCATCCCCTCCTTCTTCAGACCCAGGAGTCCAGGCCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAGGAATCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAGTCCAGGGCCCCATCCCCTCCTTCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTTCCTCAGACCCAGGAGTCCAGGCCCCCATCCCCTTCTTCCTCAGACCCAGGAATCCAGGCTATCAGCCCATCCTCCCTCAGACCCAGGGGTCCAGACTTCCAGCCTCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCCCTCCTCCGTCAGACCCAGGAGTCCAGCCCCCTCCCCAAGACCTTCATCACCTGGCACTGTGCAGGCCCACAGCTGACGGCGATGACCTCCTTCACCAGCTTCTTCTCCTTGAGCCGCACAGCCTCCTCCACCGCGATCTCACAGAAGGGGTTCATGGAGTGCTTCACACCATCCGTGACCACACCGGTCCTGTCAGGCTTCACTCGGATCTGCCCAGCAGGAGGGGAAGGGGTGGGGTCAGGAGGAAACAGGCAAGAAGGTGGGGGGCCTCAGCGCCAACCCTCTCCCAGGCTGGATGAGGACAACGACAGCCTGGAAAGGGGCAGGGCCTTGTCCGGGGTCACACAGCTCCAGGGACAGAACTGGGTTAGAGTTTGTAGGCAGGGGCAGGTCACCCTGTCTCCTTCTCTCATCCAGCCATTCCTGGGTACCAGGGACATCTGACTTGATCATCCCTACTGTTGTCACTGCTCCTCTCAGGCCTGAAAGAGTGTTTCTCAAATTTACAGTATTTATGGTAACCCACAGTGAGAGGTACATTTTACTGTATCTCCAAGTGTATATAAATACATAATACACTGATACATAAATACAAATGAGGAGAAGAAAAGGAAAAACCAGTTAGGTAGACAGTTAAGGGTGGTCCTCAGAGGAGCAGCCTGCCTGAAAAATCACAGCTACAGGCAACAATAGAGCAGCCTGGGGAAAACTCAAGCTGCCCAGCACAGAAGCCTTTTGTTCTTTGCGTGACTGACAGGCTCCCAGGAAAAGTTCCCTCCCCTTTTCAGGCACGTACATGGTGGTCTCTGTGGGAACTTGCACGGGGAGGGGCGGAGCTTACCTAAAACAAACCCACGGTTACAGAAACAAGAGAAGCGGAGCTTTGTGCTTGCCTAAAGACGTACCCACAACTACATAGATAACGGAGAGTTATGCAGATAGCTTTACAGATAAGATACTCAAACAGCTACAGAGATGAAAGGAGTTTCTTATAAAAGCTTTTGGTGTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAGCCTACTCATCTGACAAATGGCTAATATCCAGAATCTACAATGAACTCAAACAAATGTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGATATGAATAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAATCACAATGAGATACCGTCTCACACCAGTTAGAACGGCGATCATTAAAAAGTCAGGAAAGAACAGGTGCTGGAGAGGATGTGGAGAAAAAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCGGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCTATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATAGTAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAACAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAGAAAACCAAACAACGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTCGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAAGGACGAGTTACTGGGTGCAGCACACCAACATGGCACATATAAACACATGTAACAAACCTGTACGTTGTGCACATGTATCCTAAAACTTAAAGTATAATAATAAAAAATAAATAAATAAATAATTTTTTAAAAAAAAAGCTTTTGGAATCAACTGTAAAAATGGCAACCCGCTTGGGCTTCCCTCTCCTCTGTGGAGAGCTTTCTTCTTTTGCTTATTAAACTTTCGCTCCAACCTCACCTTTTGGGTGGTCTATGCTCTTTAATTCTCTTGGTTGTGAAACGAGCTCGGATAACACCTTAGACAACGTGACCAGTGACCCTGACCTATTTCACAAATGCCACTGCAGTGTAAGGGTCAGTGACCAATACTGACCCTGCCTACACACACACCATACTCTGACATTTTCTACCC
|
benign
| 309,528 |
Variant in NLRP12 (NLR family pyrin domain containing 12), chromosome 19, position 53794152—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
benign
|
TCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCCGCATGTGCTATCACGCCTGGTTAATTCTATATTTTTATTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTCGGTTCACTGCAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCCGCCTCAGCCTCCCCAGCAGCTGGGACTATAGGTGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTATTGATCTCTTGACCTAGTGATCCGCCCGCTTCGGCCTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTAATTTTTGTATTTTTAGTAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGCTGATCTGCCTGCCTTGGCCTCCGAAAGTATTTGGATTACAGGCATGAGTCACCGCATCTGGCGGTATTTTTGTTGAAAGCACAGTGTATAATAGGTTATGGCCAGCCTACACGTGGCCTTGTAGGTGTCAGTTCTTGGCAGGGCCCAGTGAATTCCAGGCAGGGGGCCATCCTGACATGCCTGCCACGTTAAGATTTCAGACATTATCCCCTCCAGCAAGGGAGGATCAGGGCTGTTGGCATAACAAGCATTCTGAGGGTTAGCTTGCATACCAGTCTCTTCCCAAATGCTGAGTTGCCCCATGTATCCTGTGACATTTGAGAATAGGCTTTCCTCAACTTGGCACAATTTGCCTTTGGACCAAGTGCTTTGTCCTGTGCATTCCTTGCTGGATGTTGGCATGCATTCCTAGTGTCGTCCACTAGATGGCAGTGGCACCCACCCCAGAGCTCAAATATTACTATGTTCCGATGCAGCCAGGGCTTGGCAGGGCTGGGTGGCCTCTGAGGGCCCCTACTGGCCATTTTTCACCGTCTCCCTCTGTTGCCCAGGCTGGGGCGCAGTGATGCAATGACAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCTTCCCACCTCAGTCCCCAGAGTAGCTGGGACTACAGGCATGTGCTGCTACTCCTGGGTAATTAATTGTACTAATTAATAGTAGTTGGCTAATTAGTAACAGTGGAGTCTTGCTATGTTGCTTAGGCTGGTCTCTAACTCCTAGACTTAAGCAACCCATCTTGCCTCCACCTTTGAAAGTACGGGGGTTACAGGCGTGAGACACCGCACCTGGCCCCTGTTGGGATTTACCCCTCCTGTTAGGGGCCATCAAACCTCTCTTAGTTGGTCATCCCTTAAAGCTCCGTCAAACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCCCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTAATCTCAAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCTCGAAGTGCTAGGATTACATACATGAGCCACCACGCCTGGCCAGCTCTGTCAAACATTAATTTGATCCCAAGCAGAGGGACTTTTGATCTCAATCTGCATGAGTCTGTCTCTAGGAAGGAGGCTGATCATTATGCTGGGGGGGTGATGAGCACCCTCCCATCTTCCTCTGTCCAGATCTCAGGGGAGAGCCAGCAGATAGGACCATTCAGCAGCCAATGTCCAAATAAGGTTTTGTTACTCGAAGCGCTGCCAACCTACTGTGGGTCATTTTATTCAGGTCCATCCCAAATAACCTGTGGACACAAGAGTTGATATTATTCCAGTGTACTACTGTGGCATTCAATTAATAAGCCTTAAGTATCTATTGTGCACTACCGTGGTAAGATAATTCCATGATCCTCCAGAAATTCCACCCAACGCTGCTGGAAAGTAGGCTTACTACATGCTACATGCAAGTCCCCAAGCTGTGTTAACTGCATAATTTTTTTTTTTTTGAGACACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCCGTGTTAGCCAGGATGGTCCTAGTCTCCTAACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCAATTCATAATTTATCATAGCCTTATGAAGATGCAACTATGTTCTCCATTTTTTTTTTCTTTCCCCAAGATGGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGCTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGTCACGTGCCACCATGCCTGGCTAATTTTTGCATAGAGCCACCCGCTCCCAGCCGTAAGTTTTTGTATTTTTAGTAGAGATGTGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATTTGCCTGCCTTGGCCTTTTTTTTCTTGAGACAAGTTCCTGCTGGGTCACCCAGTGGCGTAATCATGGTTCACTGCAGCCTTGAACTCCTGAGCTCAAAGGATCCTCCCACCTCAGCCCCCTGAGTAGCTTTGATTAGAGGTGTGTGCCACCATACCTGGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAGAAAGCAATTTTCCTAACTCAGCCTGTCAAAGTACTGGGATTACAGGCGCCATCCCCTGCACCCAGCCTAAACTTTGATTGCATCACTGCACTCCAGCCTGGGCCACAGCAAGATCCTGTCCAAAAAAAAAGCAATTGGAGTTTGAACCCAGGCAGAGTAATTCTAGATTCTCACTCGAATCACAGTGACCTCCAATGCAATTGGTGAGCCACGATGGTCCCCTTCAACAGACAAGGAAATTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGGTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTGTTTTTATTAGAGACGGGGTTTCGCCATTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCTCAGACAAGGAAATTATCCAAGGTCACACAGCCAGTAGATGACATAGCTAATATGTGGCCTCATCTGTATGCCCCCTAATTGCATACACCAGTGCATAACGTATTTGTCCATCCAGCTTATCTACCCTCATGCTCCCAGCCCAATGTCCAGCCTCCTCCAGAAAGAACTGGTCATCATCCCTCACCAGAGGACTCGGAGTTTGCAGCCAGGATGGCTCAGCCGCTTGCAAAGCAGTCGGACACCTGTGTCCCCTAGGGCGTTGTTGGTCAGGTAAAGGTCGGTCAAGGTCTGGTTGATCCCCAGGGTGAAGTAAAGATTCTCACAAGCCTTGGCTGTGAGGCCACAGCTATCCAGCCTGGTGAAGATAAGGAGTTGGTTAAGGTAACACCAGGGGCTACTTATGTTATTCGGAGGCAGTGTCTCACCCTGTCTCCCAGGCTGGAGTACAGTGGTGAGATTTCTGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCT
|
TCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACCCGCATGTGCTATCACGCCTGGTTAATTCTATATTTTTATTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTCGGTTCACTGCAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCCGCCTCAGCCTCCCCAGCAGCTGGGACTATAGGTGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTATTGATCTCTTGACCTAGTGATCCGCCCGCTTCGGCCTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTAATTTTTGTATTTTTAGTAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTAACCTCAGCTGATCTGCCTGCCTTGGCCTCCGAAAGTATTTGGATTACAGGCATGAGTCACCGCATCTGGCGGTATTTTTGTTGAAAGCACAGTGTATAATAGGTTATGGCCAGCCTACACGTGGCCTTGTAGGTGTCAGTTCTTGGCAGGGCCCAGTGAATTCCAGGCAGGGGGCCATCCTGACATGCCTGCCACGTTAAGATTTCAGACATTATCCCCTCCAGCAAGGGAGGATCAGGGCTGTTGGCATAACAAGCATTCTGAGGGTTAGCTTGCATACCAGTCTCTTCCCAAATGCTGAGTTGCCCCATGTATCCTGTGACATTTGAGAATAGGCTTTCCTCAACTTGGCACAATTTGCCTTTGGACCAAGTGCTTTGTCCTGTGCATTCCTTGCTGGATGTTGGCATGCATTCCTAGTGTCGTCCACTAGATGGCAGTGGCACCCACCCCAGAGCTCAAATATTACTATGTTCCGATGCAGCCAGGGCTTGGCAGGGCTGGGTGGCCTCTGAGGGCCCCTACTGGCCATTTTTCACCGTCTCCCTCTGTTGCCCAGGCTGGGGCGCAGTGATGCAATGACAGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCTTCCCACCTCAGTCCCCAGAGTAGCTGGGACTACAGGCATGTGCTGCTACTCCTGGGTAATTAATTGTACTAATTAATAGTAGTTGGCTAATTAGTAACAGTGGAGTCTTGCTATGTTGCTTAGGCTGGTCTCTAACTCCTAGACTTAAGCAACCCATCTTGCCTCCACCTTTGAAAGTACGGGGGTTACAGGCGTGAGACACCGCACCTGGCCCCTGTTGGGATTTACCCCTCCTGTTAGGGGCCATCAAACCTCTCTTAGTTGGTCATCCCTTAAAGCTCCGTCAAACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCCCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTTTTTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTAATCTCAAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCTCGAAGTGCTAGGATTACATACATGAGCCACCACGCCTGGCCAGCTCTGTCAAACATTAATTTGATCCCAAGCAGAGGGACTTTTGATCTCAATCTGCATGAGTCTGTCTCTAGGAAGGAGGCTGATCATTATGCTGGGGGGGTGATGAGCACCCTCCCATCTTCCTCTGTCCAGATCTCAGGGGAGAGCCAGCAGATAGGACCATTCAGCAGCCAATGTCCAAATAAGGTTTTGTTACTCGAAGCGCTGCCAACCTACTGTGGGTCATTTTATTCAGGTCCATCCCAAATAACCTGTGGACACAAGAGTTATTATTCCAGTGTACTACTGTGGCATTCAATTAATAAGCCTTAAGTATCTATTGTGCACTACCGTGGTAAGATAATTCCATGATCCTCCAGAAATTCCACCCAACGCTGCTGGAAAGTAGGCTTACTACATGCTACATGCAAGTCCCCAAGCTGTGTTAACTGCATAATTTTTTTTTTTTTGAGACACAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCCGTGTTAGCCAGGATGGTCCTAGTCTCCTAACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCAATTCATAATTTATCATAGCCTTATGAAGATGCAACTATGTTCTCCATTTTTTTTTTCTTTCCCCAAGATGGAGTCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGCTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGTCACGTGCCACCATGCCTGGCTAATTTTTGCATAGAGCCACCCGCTCCCAGCCGTAAGTTTTTGTATTTTTAGTAGAGATGTGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATTTGCCTGCCTTGGCCTTTTTTTTCTTGAGACAAGTTCCTGCTGGGTCACCCAGTGGCGTAATCATGGTTCACTGCAGCCTTGAACTCCTGAGCTCAAAGGATCCTCCCACCTCAGCCCCCTGAGTAGCTTTGATTAGAGGTGTGTGCCACCATACCTGGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAGAAAGCAATTTTCCTAACTCAGCCTGTCAAAGTACTGGGATTACAGGCGCCATCCCCTGCACCCAGCCTAAACTTTGATTGCATCACTGCACTCCAGCCTGGGCCACAGCAAGATCCTGTCCAAAAAAAAAGCAATTGGAGTTTGAACCCAGGCAGAGTAATTCTAGATTCTCACTCGAATCACAGTGACCTCCAATGCAATTGGTGAGCCACGATGGTCCCCTTCAACAGACAAGGAAATTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGGTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTGTTTTTATTAGAGACGGGGTTTCGCCATTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCTCAGACAAGGAAATTATCCAAGGTCACACAGCCAGTAGATGACATAGCTAATATGTGGCCTCATCTGTATGCCCCCTAATTGCATACACCAGTGCATAACGTATTTGTCCATCCAGCTTATCTACCCTCATGCTCCCAGCCCAATGTCCAGCCTCCTCCAGAAAGAACTGGTCATCATCCCTCACCAGAGGACTCGGAGTTTGCAGCCAGGATGGCTCAGCCGCTTGCAAAGCAGTCGGACACCTGTGTCCCCTAGGGCGTTGTTGGTCAGGTAAAGGTCGGTCAAGGTCTGGTTGATCCCCAGGGTGAAGTAAAGATTCTCACAAGCCTTGGCTGTGAGGCCACAGCTATCCAGCCTGGTGAAGATAAGGAGTTGGTTAAGGTAACACCAGGGGCTACTTATGTTATTCGGAGGCAGTGTCTCACCCTGTCTCCCAGGCTGGAGTACAGTGGTGAGATTTCTGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTNNN
|
benign
| 309,665 |
Variant at chromosome position 53798340, chromosome 19, gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
CCCATGCTGGAGTGCTGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGGCGAGAGCCACCACACCCAACTAATTGTTGTATTAGTAGAGAGAGGGTTTCACCTTGTTGGCCAGAATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCGTAATTTTTATATCTTTAGTGGAGAGGGGATTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTACGCCCAGCCTCTGAAACATTTTAAAAAATTATCTGGGTTAGGCCGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGGGTGACAGGGAGACCCTGTTTTAAAAAAAAAAAAAATCCCAAATAAACTAGATGATGCCTCATCCCATTCTAAGTCCTTCAGATTAGGGCTACAGCTGGCCTGGCAGAAAGGTGAGGGAGAAAGTCACAATTAACATTTGATTGGAATTTACAGAGCACCAGATTGAATTATTATTTTTTTTTCTCGAGATGGAGTCTTTCTCTGGCACCTAGGCTGGAGTGCAATGGTGTGATCTCCGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGACACCCACCACCACGCCAGGCTAATTTTTGTATTCTTAATAGAGATGGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGTCCGCCTTGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTGAATTATTATTTTTGAGACAGAGTCTTGCTCTATCACCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAATCTCGCCTCCCAGGTTCAAGTCATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACTGGGTTAATTTTTGTATTTTTGTAGAATGGTGTTTCACCGTTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCATTAAGCTACCGTGCCCAGCCTCTTTTGTAATTTTTAAATTTTAATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCTACTTCCCAGGTACAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTCGGATTACAGGCATGTGCCACCAGGCCCGGCTATTTTTTTTGTATTTAGTAGAGACAGGGTTTCACCGTGTTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGCGCCATCGCGCCTGGCCTTAAGTTTTTAAAATTTTAAGTCGGGTAGCACCCCCAAATCAGAATAAGTTCAGAGAGACTTCCTGTCTTTTCTTTCCACCTCTCTTCTTGCTACCTGAATCTTTTGTAGTGAAGCAGGATAGTTCATAAATAGAAAAATGAAGGATGAGAAGGCGCTTCCACTGTCCAAACGTGACCACTGCCACCCCGTCACTCCCCGATGCTCACCACAGTTTCTGGAGTCTGCAGGCGGGATGTTGCAGCCCCTCAGCCAGCAACCACAGGCCCCAGTCTCCCAGGTCGTTGAAACTCAAGTCCAGCTCCCGGAGGTTGTGGTTGGCCTGGAGCACCACAGAAAGACCCTCACAGGCGGCAGAGCCCAGCCGGCAGATGCCCAACCTGCAAAGACAGGATGCTAGGGCGGAGTGGGAGGCATTCCTCCTGCAAAATCTGCTGGGAGGGCCCTGTGCCAAGCCCTGTGCTGGTTGCAGACAGAGGGACAGACTCAATCTCTACCCTTGAGAGACAAAAAGAAAAAGACGACAGAAGTAGGAAGATGAGAGGAAGGGAGGAATAAGAGAACAGAAGGAAGCAACTAAGAATCAGGCCAGGTGCCCTGGCTCATGCCTGTCATCCCAGCATCTTGGGAGGCTTGAGGCTGGAGGGTTTTTTGAGGTCAGGAGTTTGTGACCAGTCTGGACAACCAATAACTTGTCTGTACAAAAAAAAATTTTTTTTCTTTTTGCGATGGCGTTTCCCTCTTGTTGTCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCACAAGCTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGATGGGATTACAGGCATGTGGCAACATGCCCGGCTAATTTTTGTATTTTTAGTACAAGCGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTAGGTGATCCACCCGCCTCAGCCTCCTATCTACAAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCAATGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGTTGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGTTTACAGGCATGAGCCACCGCGCCCAGCCGCGTGTGTGATTTTTTGTTTTTTGTTTTTTGCTGGTGCCTTGATAAAAAAAATACACAAAGTGTGTTTTTTGAGCACTTCTACCCACGTCTTATACTAGTCACTAGGAGATACAGTTGGCATAGCTCCTATGCTTGTGGAATGCCACCACACACACATATACACAAATTACAAATTTTTCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCAAAATCTCAGCTCACTGCAACCTCCGGCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTACCTGGATATCAGGCGTCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTCATTCTCCCACCTTGGCCTCCCAAAGTGCTAAGATTACAGGTGTGAGCCACCGCATCCTGCCTTCAGATTTCAATAAATGATGCTGAGGGGGAAGTATGAGGTCACATAGGATCATAAATCTAGGAACCCAGATTTTAGCTAGGGATTAGAAAGGGTGTCCAGCTGGGTGTAGTGGGTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCCAGAGGATCTCCTAAGGCCAGGAGTTTGACACCAGCCTAGGCAACAAATCGAGACCTTGTCCCTACAAAAAATAAATAAAAATTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGAGAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAAATGTTTTTAAAAATTAGCCGGGCATGGTGGCGGGCACCTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTCGCAGTAAGCTGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAGGGCAAGACTCGTCTCAAAAAAAAAGTAAAAATTAGCCATCTGTGGTGGCATGCGCTTGCAGTCCCAGCTACTCAGGAGGCTGAGTTGGGAGGATGGCTT
|
CCCATGCTGGAGTGCTGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGCAGCTGGGACTACAGGCGAGAGCCACCACACCCAACTAATTGTTGTATTAGTAGAGAGAGGGTTTCACCTTGTTGGCCAGAATGGTCTCAATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCGTAATTTTTATATCTTTAGTGGAGAGGGGATTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATCCACCAACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTACGCCCAGCCTCTGAAACATTTTAAAAAATTATCTGGGTTAGGCCGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGGGTGACAGGGAGACCCTGTTTTAAAAAAAAAAAAAATCCCAAATAAACTAGATGATGCCTCATCCCATTCTAAGTCCTTCAGATTAGGGCTACAGCTGGCCTGGCAGAAAGGTGAGGGAGAAAGTCACAATTAACATTTGATTGGAATTTACAGAGCACCAGATTGAATTATTATTTTTTTTTCTCGAGATGGAGTCTTTCTCTGGCACCTAGGCTGGAGTGCAATGGTGTGATCTCCGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGACACCCACCACCACGCCAGGCTAATTTTTGTATTCTTAATAGAGATGGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGTCCGCCTTGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTGAATTATTATTTTTGAGACAGAGTCTTGCTCTATCACCCAGGCTGGAGGGCAGTGGCATGATCTCAGCTCACTGTAATCTCGCCTCCCAGGTTCAAGTCATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACTGGGTTAATTTTTGTATTTTTGTAGAATGGTGTTTCACCGTTTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCATTAAGCTACCGTGCCCAGCCTCTTTTGTAATTTTTAAATTTTAATTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCTACTTCCCAGGTACAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTCGGATTACAGGCATGTGCCACCAGGCCCGGCTATTTTTTTTGTATTTAGTAGAGACAGGGTTTCACCGTGTTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCATGCGCCATCGCGCCTGGCCTTAAGTTTTTAAAATTTTAAGTCGGGTAGCACCCCCAAATCAGAATAAGTTCAGAGAGACTTCCTGTCTTTTCTTTCCACCTCTCTTCTTGCTACCTGAATCTTTTGTAGTGAAGCAGGATAGTTCATAAATAGAAAAATGAAGGATGAGAAGGCGCTTCCACTGTCCAAACGTGACCACTGCCACCCCGTCACTCCCCGATGCTCACCACAGTTTCTGGAGTCTGCAGGCGGGATGTTGCAGCCCCTCAGCCAGCAACCACAGGCCCCAGTCTCCCAGGTCGTTGAAACTCAAGTCCAGCTCCCGGAGAGGTTGTGGTTGGCCTGGAGCACCACAGAAAGACCCTCACAGGCGGCAGAGCCCAGCCGGCAGATGCCCAACCTGCAAAGACAGGATGCTAGGGCGGAGTGGGAGGCATTCCTCCTGCAAAATCTGCTGGGAGGGCCCTGTGCCAAGCCCTGTGCTGGTTGCAGACAGAGGGACAGACTCAATCTCTACCCTTGAGAGACAAAAAGAAAAAGACGACAGAAGTAGGAAGATGAGAGGAAGGGAGGAATAAGAGAACAGAAGGAAGCAACTAAGAATCAGGCCAGGTGCCCTGGCTCATGCCTGTCATCCCAGCATCTTGGGAGGCTTGAGGCTGGAGGGTTTTTTGAGGTCAGGAGTTTGTGACCAGTCTGGACAACCAATAACTTGTCTGTACAAAAAAAAATTTTTTTTCTTTTTGCGATGGCGTTTCCCTCTTGTTGTCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCACAAGCTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGATGGGATTACAGGCATGTGGCAACATGCCCGGCTAATTTTTGTATTTTTAGTACAAGCGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTTAGGTGATCCACCCGCCTCAGCCTCCTATCTACAAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCAATGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGTGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGTTGGCCAGGATGGTCTCCATCTCTTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGTTTACAGGCATGAGCCACCGCGCCCAGCCGCGTGTGTGATTTTTTGTTTTTTGTTTTTTGCTGGTGCCTTGATAAAAAAAATACACAAAGTGTGTTTTTTGAGCACTTCTACCCACGTCTTATACTAGTCACTAGGAGATACAGTTGGCATAGCTCCTATGCTTGTGGAATGCCACCACACACACATATACACAAATTACAAATTTTTCTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGCAAAATCTCAGCTCACTGCAACCTCCGGCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTACCTGGATATCAGGCGTCCGCCACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTCATTCTCCCACCTTGGCCTCCCAAAGTGCTAAGATTACAGGTGTGAGCCACCGCATCCTGCCTTCAGATTTCAATAAATGATGCTGAGGGGGAAGTATGAGGTCACATAGGATCATAAATCTAGGAACCCAGATTTTAGCTAGGGATTAGAAAGGGTGTCCAGCTGGGTGTAGTGGGTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCCAGAGGATCTCCTAAGGCCAGGAGTTTGACACCAGCCTAGGCAACAAATCGAGACCTTGTCCCTACAAAAAATAAATAAAAATTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGAGAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAAATGTTTTTAAAAATTAGCCGGGCATGGTGGCGGGCACCTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTCGCAGTAAGCTGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAGGGCAAGACTCGTCTCAAAAAAAAAGTAAAAATTAGCCATCTGTGGTGGCATGCGCTTGCAGTCCCAGCTACTCAGGAGGCTGAGTTGGGAGGATGGC
|
benign
| 309,678 |
Variant chromosome 19, position 53805521, gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic? Disease(s)?
|
benign
|
CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCTCTTTGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGCGCCCGACCTGTGGATGCATTTTTATACCATCATTCAATATGAAGAGATTTGCCATTTTATTATAGTTGACCCCAGGAAGAACTCACCACAAAGTCCGTAGTCTGCAGACTGGGTGCCTCAGTCCCTGGCATAGTAACCTCAGGCCCAAATCCTCCAGTGCATTTCCTGTCAGGTCCAACTCAACCAGATGTGGGTTGGTGCCGAGCACAGAAGCCATCTCCTGACAAGCCCCGGACTCCAGCTGACACTTCCTCAACCTTGGGAGGAAGGAGAGGTTGAAGGGGACGCCATCTTGCTTTTCTATGTCGTGATCACTCATGCTCCAGCCTGTTATTTTATTATTTAGGAACAGGTTGTTGCTCTGTCACCCAGGGTGAAGTTCAGTGGAGTGATATCAACTCGCTGAAGCCTCGACCTCCAGGCTCCCGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGGGAATACATGTGTGCACCACCACACCTGCCTAATTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTGGGTTTTTTTGTTTTTTTTTTTTTTTGAGGTAGAACCTCATTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGCCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCATACCTCAGTCTCGAGTAGCTGGGACTACAGGCTGGGCTACAGGTGTGTGCCACCACGCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACGTGAACCACCGCTCCTGGCCCATACCTGGCTAATTAAAAAAAAAAAATTTTTGTAGGTCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGAGGAAACCCCATCTCTACTAAAAATACAAAAAAGTTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCACTTGAACGCAGGAAGTGGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACCCCAACTTGGGCAACATAGCAAGACCCCGTCTCGGGAGAAAAAAAGAAGAGGTGGGGGATGGCCCCAGGGACTCTTCATCATGTAGAATTGAGTGTGGAGTCAGAGGAGGGCAGAAGCAGGTCTTCCAAAGTGCCTAGAGTCCAGGGCCAGGGTCTTAGGTCATGGGGTTAAGGGCCAGCCCTGATTTAAAGGTGGAGATTTGGGGATTACCAGCATTTTGTGATATTTCATGCCCCAGGAGACAATGAGCTTAAGAAGTTGCTCCCGGGGATAGAGACTCACTGAATCATCTGCAGCCTGCACTGGGGATGCCGCAGGCCCTCGCAAAGCAGCATCATGCCTGGGAATCCAACGCCGTTGCCACTGAGATCCATCCTTGTCAAATTCTTATTGGCTATGAGAGCTGCAGAGAGGTCCTCGCAGGCTGAGCTGGAGATGCGGCACCTCTTCAGCCTGGGGTGGAAAAGAGGAGAAAGGAGCTGGTCATTTCTTTTGCTCCAGTTTTGTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGGGC
|
CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCTCTTTGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGCGCCCGACCTGTGGATGCATTTTTATACCATCATTCAATATGAAGAGATTTGCCATTTTATTATAGTTGACCCCAGGAAGAACTCACCACAAAGTCCGTAGTCTGCAGACTGGGTGCCTCAGTCCCTGGCATAGTAACCTCAGGCCCAAATCCTCCAGTGCATTTCCTGTCAGGTCCAACTCAACCAGATGTGGGTTGGTGCCGAGCACAGAAGCCATCTCCTGACAAGCCCCGGACTCCAGCTGACACTTCCTCAACCTTGGGAGGAAGGAGAGGTTGAAGGGGACGCCATCTTGCTTTTCTATGTCGTGATCACTCATGCTCCAGCCTGTTATTTTATTATTTAGGAACAGGTTGTTGCTCTGTCACCCAGGGTGAAGTTCAGTGGAGTGATATCAACTCGCTGAAGCCTCGACCTCCAGGCTCCCGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGGGAATACATGTGTGCACCACCACACCTGCCTAATTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTGGGTTTTTTTGTTTTTTTTTTTTTTTGAGGTAGAACCTCATTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGCCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCATACCTCAGTCTCGAGTAGCTGGGACTACAGGCTGGGCTACAGGTGTGTGCCACCACGCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACGTGAACCACCGCTCCTGGCCCATACCTGGCTAATTAAAAAAAAAAAATTTTTGTAGGTCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGAGGAAACCCCATCTCTACTAAAAATACAAAAAAGTTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCACTTGAACGCAGGAAGTGGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACCCCAACTTGGGCAACATAGCAAGACCCCGTCTCGGGAGAAAAAAAGAAGAGGTGGGGGATGGCCCCAGGGACTCTTCATCATGTAGAATTGAGTGTGGAGTCAGAGGAGGGCAGAAGCAGGTCTTCCAAAGTGCCTAGAGTCCAGGGCCAGGGTCTTAGGTCATGGGGTTAAGGGCCAGCCCTGATTTAAAGGTGGAGATTTGGGGATTACCAGCATTTTGTGATATTTCATGCCCCAGGAGACAATGAGCTTAAGAAGTTGCTCCCGGGGATAGAGACTCACTGAATCATCTGCAGCCTGCACTGGGGATGCCGCAGGCCCTCGCAAAGCAGCATCATGCCTGGGAATCCAACGCCGTTGCCACTGAGATCCATCCTTGTCAAATTCTTATTGGCTATGAGAGCTGCAGAGAGGTCCTCGCAGGCTGAGCTGGAGATGCGGCACCTCTTCAGCCTGGGGTGGAAAAGAGGAGAAAGGAGCTGGTCATTTCTTTTGCTCCAGTTTTGTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGGG
|
benign
| 309,699 |
The chromosome 19, position 53805521 genetic variant in gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCTCTTTGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGCGCCCGACCTGTGGATGCATTTTTATACCATCATTCAATATGAAGAGATTTGCCATTTTATTATAGTTGACCCCAGGAAGAACTCACCACAAAGTCCGTAGTCTGCAGACTGGGTGCCTCAGTCCCTGGCATAGTAACCTCAGGCCCAAATCCTCCAGTGCATTTCCTGTCAGGTCCAACTCAACCAGATGTGGGTTGGTGCCGAGCACAGAAGCCATCTCCTGACAAGCCCCGGACTCCAGCTGACACTTCCTCAACCTTGGGAGGAAGGAGAGGTTGAAGGGGACGCCATCTTGCTTTTCTATGTCGTGATCACTCATGCTCCAGCCTGTTATTTTATTATTTAGGAACAGGTTGTTGCTCTGTCACCCAGGGTGAAGTTCAGTGGAGTGATATCAACTCGCTGAAGCCTCGACCTCCAGGCTCCCGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGGGAATACATGTGTGCACCACCACACCTGCCTAATTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTGGGTTTTTTTGTTTTTTTTTTTTTTTGAGGTAGAACCTCATTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGCCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCATACCTCAGTCTCGAGTAGCTGGGACTACAGGCTGGGCTACAGGTGTGTGCCACCACGCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACGTGAACCACCGCTCCTGGCCCATACCTGGCTAATTAAAAAAAAAAAATTTTTGTAGGTCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGAGGAAACCCCATCTCTACTAAAAATACAAAAAAGTTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCACTTGAACGCAGGAAGTGGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACCCCAACTTGGGCAACATAGCAAGACCCCGTCTCGGGAGAAAAAAAGAAGAGGTGGGGGATGGCCCCAGGGACTCTTCATCATGTAGAATTGAGTGTGGAGTCAGAGGAGGGCAGAAGCAGGTCTTCCAAAGTGCCTAGAGTCCAGGGCCAGGGTCTTAGGTCATGGGGTTAAGGGCCAGCCCTGATTTAAAGGTGGAGATTTGGGGATTACCAGCATTTTGTGATATTTCATGCCCCAGGAGACAATGAGCTTAAGAAGTTGCTCCCGGGGATAGAGACTCACTGAATCATCTGCAGCCTGCACTGGGGATGCCGCAGGCCCTCGCAAAGCAGCATCATGCCTGGGAATCCAACGCCGTTGCCACTGAGATCCATCCTTGTCAAATTCTTATTGGCTATGAGAGCTGCAGAGAGGTCCTCGCAGGCTGAGCTGGAGATGCGGCACCTCTTCAGCCTGGGGTGGAAAAGAGGAGAAAGGAGCTGGTCATTTCTTTTGCTCCAGTTTTGTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGGGC
|
CCCGGCCCATCTCTGGAACTTTTTCATCTTCCGAAATGGAACCTCTGCTCCCGTTAAACGGTAACTCCCCATTTCTTCCTGTTCTAGGCCTTGGCAGCCACTATTCTACTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCGTGGCTGGAGTGCAGTGACGTGATCTCAGCTCACTGCAACTTCCGCCTCTCAGGTTCAAGTGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGTGATTACAGGCGTGTGCCACCACATCCAGCTAATTTTTGTATCTTTAGTAGAGAGGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCTCTTTGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGCGCCCGACCTGTGGATGCATTTTTATACCATCATTCAATATGAAGAGATTTGCCATTTTATTATAGTTGACCCCAGGAAGAACTCACCACAAAGTCCGTAGTCTGCAGACTGGGTGCCTCAGTCCCTGGCATAGTAACCTCAGGCCCAAATCCTCCAGTGCATTTCCTGTCAGGTCCAACTCAACCAGATGTGGGTTGGTGCCGAGCACAGAAGCCATCTCCTGACAAGCCCCGGACTCCAGCTGACACTTCCTCAACCTTGGGAGGAAGGAGAGGTTGAAGGGGACGCCATCTTGCTTTTCTATGTCGTGATCACTCATGCTCCAGCCTGTTATTTTATTATTTAGGAACAGGTTGTTGCTCTGTCACCCAGGGTGAAGTTCAGTGGAGTGATATCAACTCGCTGAAGCCTCGACCTCCAGGCTCCCGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGGGAATACATGTGTGCACCACCACACCTGCCTAATTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTGGGTTTTTTTGTTTTTTTTTTTTTTTGAGGTAGAACCTCATTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGCCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTTTCATACCTCAGTCTCGAGTAGCTGGGACTACAGGCTGGGCTACAGGTGTGTGCCACCACGCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACGTGAACCACCGCTCCTGGCCCATACCTGGCTAATTAAAAAAAAAAAATTTTTGTAGGTCGAGTGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGAGGAAACCCCATCTCTACTAAAAATACAAAAAAGTTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCACTTGAACGCAGGAAGTGGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACCCCAACTTGGGCAACATAGCAAGACCCCGTCTCGGGAGAAAAAAAGAAGAGGTGGGGGATGGCCCCAGGGACTCTTCATCATGTAGAATTGAGTGTGGAGTCAGAGGAGGGCAGAAGCAGGTCTTCCAAAGTGCCTAGAGTCCAGGGCCAGGGTCTTAGGTCATGGGGTTAAGGGCCAGCCCTGATTTAAAGGTGGAGATTTGGGGATTACCAGCATTTTGTGATATTTCATGCCCCAGGAGACAATGAGCTTAAGAAGTTGCTCCCGGGGATAGAGACTCACTGAATCATCTGCAGCCTGCACTGGGGATGCCGCAGGCCCTCGCAAAGCAGCATCATGCCTGGGAATCCAACGCCGTTGCCACTGAGATCCATCCTTGTCAAATTCTTATTGGCTATGAGAGCTGCAGAGAGGTCCTCGCAGGCTGAGCTGGAGATGCGGCACCTCTTCAGCCTGGGGTGGAAAAGAGGAGAAAGGAGCTGGTCATTTCTTTTGCTCCAGTTTTGTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGG
|
benign
| 309,700 |
A genetic variant on chromosome 19, position 53807551, affects the gene NLRP12 (NLR family pyrin domain containing 12). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Autoinflammatory_syndrome']
|
GTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCCCCCGGCTGCCCAGGGCATTTCGGTACAGAGACAGCTCTATCAGGTTTGGATTGGTGCACAGGGCCGCTGCCAGATGTTCACTGTAGGCGTCCAGCAGAACGGTCCTCTCTGGTCTGCTTGAAGGAAAGACAGGCCACTCTCTGGTGTTACTGGTGCTTGACAACTATGGCCTTTGCATGTCATTTCACCGTTTATGAAGCATGCTATCCTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCAGTTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGATCTCGTACTCCTGACCTCAGGTGATCTGCCCGCCTCAACCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACATCCGGCCAAAGCATGCTATCTTTTCATTTTTTTTTTTAGAGGGCCTTGCCCTGTTGTCTAGGCTGGAGTGCATGGTGAGATCATGGCTCACTGTAGGCTTGACCTCCCAGGCTTAAGCAATCCTCCCACCTCAGCCTACTGAGAAGCTGGGGCTACAGGTGTGCACCATCATGACCAGCTAATTTATTTTATATTTTTAGAGATGGGGATCTCATCATGTTGTCCAGGCTGCACCTGGCTCTATCTGACGCTCCTAATCATTGATAGTTGGTTTACTTGTTTCCCTCTTTATTATCTGTCTCCGTTCTCATTAGGATGCGTGCTCTCTTGGGACCATTGGCTTATTCACACAGTCTTCTGTCTACAGAAGATTGTTGGGTCCACCGATAAAAGGGATATAGAGGCTGGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCAAC
|
GTGGATTATTTTCTTTTGCTTTTTTTTTTTTTTCTGAGACAGAGTCGCTCTGTCACCCAGGCTGGAGAGCAGTGGCATGATTTTGGCTTACCACAACCTCTGCCTCCTGGGTTGAAGCAATCCTCCTGCCTTGGCCTCCTGAGTAGCTGGGCTTACAGACGTGTGCCACCATGCCTGGCTCATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGGGTCAAGTGATCCTCCCCATCTGGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCATACCTGGCCAATATATTTATTTCAAAATATCATGTTATATATGATAAATTTTACCTGTCAAGAAAAGCAACAAGAACAATATAAAATGTTTTGATGCTTTGTAGTCAAATACATTCACAAAGGTTGCCCTTAAAGAAATTCAAGGCCATGTGCGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTATGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTATAAACACAAAAATTAGCTGGGTGTGGTGATGCACCCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCATGTCACTGCACTCCAGCCCAGGCTACAGAGCAATACTATCTCAAAAAATAACATATGAAAAAAATTTGGCTAGGCACAGTGGCTCACACCTGTAATCTCAACAGTTAGGGAGGCTGAGGAAGGAGGATCACTTGAGGCCAGAAGTTTGAGACCAGTATGGGCAGCATGGTGAAACCCCATCTCTCCAAAACATACAAAAATTAGCCTGGTGTGGCTGGGCACGGTGGCTCAGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGAGATTGAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTCAGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAGCCGGGTGTGGTTGCACATGCTTGTTTTCCCAGCTACTCGTGATGCTGGAGCAAGAGGATCGCTTGAGTCCAGGAGTTTGGGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCATATCAGTGTCTCAAAAATTTAAAAAAAAAAAAAGTAAAAAAAAGAAAAAAATTTGGAGACCCACACAGCAGGATGACCATGTGAAGACAGAAGGCAGTGATCTGCAGGCCCAGGACAGAGGCCTCAGAAGAACTTAACCTGCCCACTCCTTGTCTTGGACTTCCAGCAGCCCCCCACCTGCCTTGAGAAAATAGATTTATGTGGTGAAGCCACCCAGTCTTTGGCACTTTTTTCCCCCCTGAGATGGAGTCTCACCGTATCACCCAGGCTGGAGTGCAGTGGCACAATCCCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGCGCCCGCCACCACACCCTCCTGATTTTTGTATTTTTTGTAGAGATGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCGCCTTCACCTGTCAACATACTGGGATTACAGACGTGAGCCACGGCACCTGGCTTTGTGACACTTTTTTATGGCAGCCGTAGCCAACGAATACACCATCCCGTGATAGAACCTTTGTGACTGATCCCCATGAGAGGCCACGGTGGGGACCACCTGAAACGCCCAGACCAGCCTGCACTCACCTCAGGTTCTGAAGTTTGCAGTTGGGGTGTCTGAGTCCTTGACAGAGCAGCTTCACCAACCCCGGCTGCCCAGGGCATTTCGGTACAGAGACAGCTCTATCAGGTTTGGATTGGTGCACAGGGCCGCTGCCAGATGTTCACTGTAGGCGTCCAGCAGAACGGTCCTCTCTGGTCTGCTTGAAGGAAAGACAGGCCACTCTCTGGTGTTACTGGTGCTTGACAACTATGGCCTTTGCATGTCATTTCACCGTTTATGAAGCATGCTATCCTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCAGTTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGATCTCGTACTCCTGACCTCAGGTGATCTGCCCGCCTCAACCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACATCCGGCCAAAGCATGCTATCTTTTCATTTTTTTTTTTAGAGGGCCTTGCCCTGTTGTCTAGGCTGGAGTGCATGGTGAGATCATGGCTCACTGTAGGCTTGACCTCCCAGGCTTAAGCAATCCTCCCACCTCAGCCTACTGAGAAGCTGGGGCTACAGGTGTGCACCATCATGACCAGCTAATTTATTTTATATTTTTAGAGATGGGGATCTCATCATGTTGTCCAGGCTGCACCTGGCTCTATCTGACGCTCCTAATCATTGATAGTTGGTTTACTTGTTTCCCTCTTTATTATCTGTCTCCGTTCTCATTAGGATGCGTGCTCTCTTGGGACCATTGGCTTATTCACACAGTCTTCTGTCTACAGAAGATTGTTGGGTCCACCGATAAAAGGGATATAGAGGCTGGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCA
|
pathogenic
| 309,703 |
Chromosome 19, position 53810542, gene NLRP12 (NLR family pyrin domain containing 12): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Familial_cold_autoinflammatory_syndrome_2']
|
AGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCAACAGCGTGTGCGCTCCTGCGGAGCACCTCGCGCGGTCTTCCCCGTCCGCGCTGTAGGTGGCGCCATACAAGTGCAGCACCTGGGCGCTCCTGCAGCGCTTCAGACAGAACGAGGAGACCATGTGCTCCATCTTGGAGGCAATGTTGCTGACCACGATCACCTGGAAGTGGCTCAGGGCCTGCTGGATAAACTCCTCCTCCTGGATCTCGTACAAGCAGCTGAAGAACTCCAAGGAGCCCTGCTGCAGGGTGGAGCCGTCGCTCTGAGCTTTGCTTTGGATCCACTGCAACAGGTCCATCTTGATGTGCGGCGAGACCTTCCAGCAGAGACTCTTCTCCAGGTGGCTCCTGGTCTCCTCGTTCAGGAGTCCAAACAGGAAGCGGCTGGTGAGTGCCAGGAAGCTCCTTTCAGAAAACGCGTACTCGGTCAACAGCCTGGTCACGTCCTGGTCTGGGCCTGCCCCGCCCTCCCCCTCGTCCAGGATATAGTACATAGCTGCAAAGAATTCCTGGAAACTCAAGTGGATGAAGCTGTAGTACCTCTCACAGTTGATGTCCTTCTGGAAGATGTTCATGTTGAGGAAGGCAGAGACGTCTTCCCCGTCTAGGCCGTGCTTCCGGAGGTCCTGCTCCTCAAATAGGATTTTCTGATTCCAGAGCCCATCTGCCGCCAAGGAGCACAACCCTCTCTGGTTGGGTGGGGGCTGGAGGCGCGGGGCCCCCGGCTTGGGTTGCATCAGACTCAGCAGGTAGAGCATGTACACTGCAGTGGTGGTCCTGGACGTCTGTCTCAACAGCCCCCCACCCTCCAGCTGCTGCTGGAGGCAGGTACACACCACCCAGCACACCAGGGGGACGAAGCACATGGTGAAGAGAGGCTCGTTGTCCCTCACGTAATTGAAGACTTGGCCCGCCTGCTCTGCATTGTGGAAATACTTGTAGAAGTATTCCTTCCTTTCTGCCTCAGAGAAGCCCAGGATCTCCACATGCCTGGGGTGCTCCAGCAGACGGTGGAGCTTCTCCAAAGCCGTGGGCCGTGTGGTGATGAGCAAAGATAGCTCAGGGAGCAGCTTCTTCCGAATTAAGCTGTTAAGAAGCAGCTCCGTGGGCCGTTTCTCCTCCCAGCAGAGGCACCAGGGTCCCTGAGGATCGTGGAAAGAAGGCTTGAGCTCATCGAAGCCGTCGATGATGAAAAGGAGGCGCTCGGGAACTCGGATGAGCTCCTGGAGAGGCGCGCTGGGCTCAGGCCAGCAGCTGAAGATGAGGTCTTGCATGCTGCATTCCGTGGCACTCTGGTTCATCTCCCTGCAGTTGATGTAGAAGAGATAATCAAATCTGCCTTGGAAGAGCTTCCCGTCCGCCCAGTCCAGCATCACCTTGTGTGCCAGCATGGACTTGCCTATCCCTGCCGCGCCTTGCATGACCACGGTGCGCGGTGGCTCGGGGCGCTCCTCGTCTGGCTCAAAGAGGGTCTCTATCTTGATGGGGCTAGCCTGGTGTCCCACGGTCCTCGCGTGTCCCCGGCCTGTGTCCAGAAGCTGCTGCTGGACCTGCATGGGGTTTGAGTGCTCCTTCACCAGCAGGAGCCGGGTGTACCGGTGGCTGAGGTTGACACATTCCCCTAGGCGCGCATTGCGGTCTTCCATGAGCCGGAATTTCCTGCGGACATAGTCCCTGTAGGTTTCCTGGGGATCTAGGGGAGAGGAATGAAGGTTTTGTGGAAGACTCATCAGCAGCCTCTAATGAGTTCACGAGGTAAAGCGCTCCTCATGTGGCTCAAAGAAGGTGTGTGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGATGGGAGAATCACTTGAACCCCTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCATCTCAAAAAAAAATTTTTTTTAATTAAAATAATTTATTTGTTTTGAGACTAGGTTATAAGACTGGCTAATTTTTTTTTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGCTTGGAGTGCAATGGTGTGCTCCCTGCAACATCCACCTCCTGGGTTCAAGTGATTCTCCAGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCTGCCCACCTCGGCCTTCCAAAGTGCTAGGATTAGAGGCATGAGCCACTGTGTCCAGCCCCACAAAGTGACTTTCAGCAAAGGATTTATAGAACGGGTACATTACCAGATAGTGCAGACATGAATCTGCCTTTTTTCAAAGGGGGCACAAGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCCAGGTGGGAGGATCGCCTGAACTCAGGAGTTTGAGACCAGCCGGAGCAACATAGTGAGACCCTGTCTCTATAAAAACAAAAGAAAGAGAAAACAAAGGGGGCACAGAAAACTTGGGAGCAGTGCTTCTCAAACTTTTTTTTTTTTTCAGTACAGACAGGGTCTTGCTGTGTTATCCAGGCTGGTCTACAACTACTAGCCTCAAACAATCCTCCTGCCTGAGCCCCGCAAAATGCTGAGATTACAGGCATGAACCACCATGCCTGGCTGTGCTTCTCCAACTTTAAGACGCATACATATCATGCAGCAATCTTGTTAGAAATGCAGTCCCTGGGCTAAGTGCAGTGGCTCACACCTGTAAGAGATCGCCCCACTGCACTCCAGCCTGGGCGACAGCGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAATCTAGAACAATGTTCTTAATTGGGGTGACTGTGTCCCCTAGTTCCCCAGGGGACATTTGGCAACGGGACAAGTGGGTTGGTTGTTACAACTGGGAAAGTACTACTGCCACATAGTGGATAGAGGCCAGAGGTGCTGCTCAACATCCCAGGAACCACAGG
|
AGGCCGAGAGTTTGAGACCAGCCTGGCCAACATGGTGACACCCCATCTCTACTAAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACTCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGACACGCAAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCAGCCTTGGTGACAGAGCCACACTCTCTCAAGAAAAAGGGACTTAGTAATATTTGTTGATTGAATAAATTCTCCCAGACATCGACCTCAATTTAGTCCCAATGGGTGTTGTTTAGTCTTTGTGGCACTATTGACACTTTGGGGCCAGAGGGACTGTCCTGTGTACTGTAGGATGTTTGCAGCATTCCCGGCCTTTATCCACTAGATGTCAGTAGTATTATTTGCTTCCCAGTTGTGACCACCAAAAACGTGTCTCCAAACATCGCCAAATGTCAGAGCAAAATCACCCCCAGCTGAGAGGCACTGGTTAAGAGCATGAACCTCAAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACACAGCGAAACCCCATCTCCACTAAAAATACAAAAATTATCCTGGCATGGTGATGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACACCAGCCTAGGAGACCAAGAGAGACTTAGTTTAAAAAAAAAAAAAAAAAAAAATCGTGGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGGTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCACGCCAGTGTACTCCAGCCTAGGCAACAGAGCAAAAAAAAAAAAAAAAAAAAAAAACACACGAACCTAAGCAGCCCCAGGGGATACCCCAGGGATACTTACAGCTGCACCAACAGCGTGTGCGCTCCTGCGGAGCACCTCGCGCGGTCTTCCCCGTCCGCGCTGTAGGTGGCGCCATACAAGTGCAGCACCTGGGCGCTCCTGCAGCGCTTCAGACAGAACGAGGAGACCATGTGCTCCATCTTGGAGGCAATGTTGCTGACCACGATCACCTGGAAGTGGCTCAGGGCCTGCTGGATAAACTCCTCCTCCTGGATCTCGTACAAGCAGCTGAAGAACTCCAAGGAGCCCTGCTGCAGGGTGGAGCCGTCGCTCTGAGCTTTGCTTTGGATCCACTGCAACAGGTCCATCTTGATGTGCGGCGAGACCTTCCAGCAGAGACTCTTCTCCAGGTGGCTCCTGGTCTCCTCGTTCAGGAGTCCAAACAGGAAGCGGCTGGTGAGTGCCAGGAAGCTCCTTTCAGAAAACGCGTACTCGGTCAACAGCCTGGTCACGTCCTGGTCTGGGCCTGCCCCGCCCTCCCCCTCGTCCAGGATATAGTACATAGCTGCAAAGAATTCCTGGAAACTCAAGTGGATGAAGCTGTAGTACCTCTCACAGTTGATGTCCTTCTGGAAGATGTTCATGTTGAGGAAGGCAGAGACGTCTTCCCCGTCTAGGCCGTGCTTCCGGAGGTCCTGCTCCTCAAATAGGATTTTCTGATTCCAGAGCCCATCTGCCGCCAAGGAGCACAACCCTCTCTGGTTGGGTGGGGGCTGGAGGCGCGGGGCCCCCGGCTTGGGTTGCATCAGACTCAGCAGGTAGAGCATGTACACTGCAGTGGTGGTCCTGGACGTCTGTCTCAACAGCCCCCCACCCTCCAGCTGCTGCTGGAGGCAGGTACACACCACCCAGCACACCAGGGGGACGAAGCACATGGTGAAGAGAGGCTCGTTGTCCCTCACGTAATTGAAGACTTGGCCCGCCTGCTCTGCATTGTGGAAATACTTGTAGAAGTATTCCTTTCTGCCTCAGAGAAGCCCAGGATCTCCACATGCCTGGGGTGCTCCAGCAGACGGTGGAGCTTCTCCAAAGCCGTGGGCCGTGTGGTGATGAGCAAAGATAGCTCAGGGAGCAGCTTCTTCCGAATTAAGCTGTTAAGAAGCAGCTCCGTGGGCCGTTTCTCCTCCCAGCAGAGGCACCAGGGTCCCTGAGGATCGTGGAAAGAAGGCTTGAGCTCATCGAAGCCGTCGATGATGAAAAGGAGGCGCTCGGGAACTCGGATGAGCTCCTGGAGAGGCGCGCTGGGCTCAGGCCAGCAGCTGAAGATGAGGTCTTGCATGCTGCATTCCGTGGCACTCTGGTTCATCTCCCTGCAGTTGATGTAGAAGAGATAATCAAATCTGCCTTGGAAGAGCTTCCCGTCCGCCCAGTCCAGCATCACCTTGTGTGCCAGCATGGACTTGCCTATCCCTGCCGCGCCTTGCATGACCACGGTGCGCGGTGGCTCGGGGCGCTCCTCGTCTGGCTCAAAGAGGGTCTCTATCTTGATGGGGCTAGCCTGGTGTCCCACGGTCCTCGCGTGTCCCCGGCCTGTGTCCAGAAGCTGCTGCTGGACCTGCATGGGGTTTGAGTGCTCCTTCACCAGCAGGAGCCGGGTGTACCGGTGGCTGAGGTTGACACATTCCCCTAGGCGCGCATTGCGGTCTTCCATGAGCCGGAATTTCCTGCGGACATAGTCCCTGTAGGTTTCCTGGGGATCTAGGGGAGAGGAATGAAGGTTTTGTGGAAGACTCATCAGCAGCCTCTAATGAGTTCACGAGGTAAAGCGCTCCTCATGTGGCTCAAAGAAGGTGTGTGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGATGGGAGAATCACTTGAACCCCTGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCATCTCAAAAAAAAATTTTTTTTAATTAAAATAATTTATTTGTTTTGAGACTAGGTTATAAGACTGGCTAATTTTTTTTTTTTTTAGATGGAGTCTCGCTCTGTTGCCCAGCTTGGAGTGCAATGGTGTGCTCCCTGCAACATCCACCTCCTGGGTTCAAGTGATTCTCCAGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATCTGCCCACCTCGGCCTTCCAAAGTGCTAGGATTAGAGGCATGAGCCACTGTGTCCAGCCCCACAAAGTGACTTTCAGCAAAGGATTTATAGAACGGGTACATTACCAGATAGTGCAGACATGAATCTGCCTTTTTTCAAAGGGGGCACAAGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCCAGGTGGGAGGATCGCCTGAACTCAGGAGTTTGAGACCAGCCGGAGCAACATAGTGAGACCCTGTCTCTATAAAAACAAAAGAAAGAGAAAACAAAGGGGGCACAGAAAACTTGGGAGCAGTGCTTCTCAAACTTTTTTTTTTTTTCAGTACAGACAGGGTCTTGCTGTGTTATCCAGGCTGGTCTACAACTACTAGCCTCAAACAATCCTCCTGCCTGAGCCCCGCAAAATGCTGAGATTACAGGCATGAACCACCATGCCTGGCTGTGCTTCTCCAACTTTAAGACGCATACATATCATGCAGCAATCTTGTTAGAAATGCAGTCCCTGGGCTAAGTGCAGTGGCTCACACCTGTAAGAGATCGCCCCACTGCACTCCAGCCTGGGCGACAGCGTGAGACTCTGCCTCAAAAAAAAAAAAAAAAAATCTAGAACAATGTTCTTAATTGGGGTGACTGTGTCCCCTAGTTCCCCAGGGGACATTTGGCAACGGGACAAGTGGGTTGGTTGTTACAACTGGGAAAGTACTACTGCCACATAGTGGATAGAGGCCAGAGGTGCTGCTCAACATCCCAGGAACCACAGGNNNN
|
pathogenic
| 309,725 |
Variant chromosome 19, position 54118358, gene PRPF31 (pre-mRNA processing factor 31): benign or pathogenic? Disease(s)?
|
pathogenic; ['Retinitis_pigmentosa']
|
TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAAGAGGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATGAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACA
|
TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACCACCACGCCCGGCTAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCGGCCTTTTACAGCCTGTTTACCCAAAAGTCTTAATATGCGCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATGAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACANNNN
|
pathogenic
| 309,802 |
Regarding the variant found on chromosome 19 at position 54118589 in gene PRPF31 (pre-mRNA processing factor 31): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Retinal_dystrophy']
|
GCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAAGAGGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATGAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGG
|
GCCTACCATGGTGTGGCCCTGGGGATGTGGAAGGAGCAAAAATTGTTCGCTACCCTCTTAGAGCTTTGGTTGATGCCTGGCAGACAGGCTTTATCAAATAATTACTTCATTAATCACAAATGTGTGAAGTGCCTTACTGTAGACACGCAGAGCGTGCGGGACACGTTATCACAAAGCAACCTCCTGTAGTCTAGAGTGGGGCGTGTGGGTCAGGGAGGTGGAACGTGAGAGCTGAAGGCTGAGGAGATGCTGGGCTACTAAGAAGTGAGGAGAGCCAGACGCCATGGCTCACTCCTGTAATCCCAGCACTTTGGGTGGCCCAGGCGAAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACACAGTGAGACCCTGTCTCTACAGAAAAATTTAAAAATTAGCCGGGCGTGCTGGTGCGTGCCTGTCATCTCAGCTATCGGGAGGCTGAGGCGGGAGAATCGCTTGAGCCCAGGTGATCGAGGCTGCCGTGAGCTATGATGGCGCCACTGCACTGCAGCCTAGGTGACAGAGCAAGACATGGTCTCAAAAAAAAGAAAAGAAAAGAAAAAACAAAGTGAAGGAAAGGGCCACTTTAGTTACAAGGGACTCCTGTACAAAGACCTGGAGGCGGGAAGAGACCGATAATGTAACCAACTCAAGTTTCTGCTACTCAGAGGCAGAGGAAGTGGGGGGTGGTGAAAGTAAAGCAGCTTTACTGATCAAATGCTCGCAGATGAGAAATGGCCAAGCTAATGTCTTTAGAAGACCATTTCAAGCTTTAGGCTGGGGAGAGGGGCTTAAAAAGGGGAACTTTGAATGGGAGGCATACAGGAGTGGTGCTGGGTACAAGGTATGTGTGTCTTGCTCCGAAGGCTGTCTTGAGTCACGGGCCACCTGGAGCATGGGCTGGTGTCAAGTCAACAATGGCCACGTTGTAGATTGATCGCCTTGAGGTGATCTCTGGAGTTTTGCAGCTGGGTTTCCATACCTAGTTTGTTTCAAGATTAGCCCCTGCGGCGAGGCGCGGTGGCTTACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTCGCTCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCTTACATAGTGAAACCTTGACTCTACAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAAGTGAGCCAAGACTGCGCCACTGCACTCCAACCTGGGTGTCAGAGCCAGACTCCATCTTTAAAAAATAAATAAATAAAGATTAGCCCCTGGAACTTCTAAGTAAGCACATAGATAAGCCAGCAGTGCAAGACAGTATCTAGTGGGAAAGGAGGGAAACAAAGAATTTCAAAGTATGTTTTCAAGGCTAAAGGCAAGAAAGGAATAAGAAAGTTTGCAAATGCATTTGGAATCTACACCACTTGGTTCCAGTAAGTCTTAGCAAGGTGGCGGTCATAGGGGTGTGCTGCGTCTTGCACAGGTCGGAGCTGGAGACTCGCCAGTGAACAAAACAAACTAAAGCACCTGTTGTCGTGGAGCCTGCATGCTAGTGGGGTTGATAAAGAAGGACCAGGGTCTTCTGGGGGAGAATCATCGCTCAGTAATAAGGAGGGACTTTGTCGGGGCAAGTTTTTAGGGAACGCTGCTGTCCCTCCCCAGGCCTCGGGATGTCTCTGGCAGATGAGCTCTTAGCTGATCTCGAAGAGGCAGCAGAAGAGGAGGAAGGAGGAAGCTATGGGGAGGAAGAAGAGGAGCCAGCGATCGAGGATGTGCAGGAGGAGACACAGCTGGATCTTTCCGGGGATTCAGTCAAGACCATCGCCAAGCTATGGGATAGTAAGATGGTAAGAGGACAAGAGGTGTTCCTAGCAGGGGGCTCTAGACAGAATCTCCCAGAAGGGGGTGATACAGGCTTCTTTTTGAAGAGTGCTGGATTCTGACTGTCTTCTCCTTTCCTACAGTTTGCTGAGATTATGATAAGATTGAGGAGTATATCAGCAAGCAAGCCAAAGCTTCAGAAGGTGCTTCCTCCCACTCTGTGCCCCTCCCCATCTCCTGTCTCTCCTGCCAGGCCCCCTGGCTCCCTGGCTGCTTGTGGCTGGGTATATCTCCTTCTCAGCCTTTTCCAGAGCCTTCTTTTTTTTTTGTTTCACCCCAACCCGTTCCCTTTTCCACTAAATATATATTGCATTGTAAAGCTCATGCTTCTTAAGTCCTTCCTGTGTGCTGAGCTTACTGATCATGATAGGACTCAGCTTGAGGTTTCCCAGACTTCACTGATTCACATGACCGGTTACAGGGTTTTTGCCACATCTATAAGCCGCTTATCCTATTATTTGCTTAACATATTCTTTGAGTCTAGGACTTTTTTTCTTAAATTTATCTGAGAAGGAAGCAAATTGCTACCATGAATGGAAAACTGGTATCATTTGGCAAAGACAAAGTCACTGTATAAAAATAGATATATAATTATTTAGGAACCACCTAAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGATCATGAGTTCAGGAGATCGAGACCATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATAACCTAAAACCTTTTCTCATGCCCAAATTGAGAGAACACTAGCTTATCTCATGAGTGCTCAGACTCACTCTTAAGAGGGCAGTCCTGTTACCATTCCTATTCTTTTTTTTTTTTCCTTGAGATAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGTTCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTCCCTCAGCCTTATGTATAGCTGGGATTACAGGTATGCAACACCATGCCTGGCTATTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTAGTCTCGAACTCCTGACCTCAAGTAATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACGCCCAGCCTTCCCATTCTTCTTGAATGGAATTTGTTGATGACAGGAAGCCATAGGAGGTTTCTGGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGN
|
pathogenic
| 309,806 |
Is the genetic variant on chromosome 19, position 54121899, gene PRPF31, benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa']
|
GGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAG
|
GGGGAAAGAAGTGTAGTGAGAGGGCAGAGTTTCGGGAGACTCACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGA
|
pathogenic
| 309,815 |
Chromosome 19, position 54121940, gene PRPF31: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic
|
CACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCC
|
CACTGCTTGCTTTCTTTAACGTTTACCTGGGCACCCAGTTGAATCGCCCAGGTCTTTGCTCTCAAAGTACTCAAGGTCTAGTGGAAGAGGCAGGCCAGGTTCCAGACAGCTATCAGTGGTGGTACCAAGCTGGGGACACCGGAGCCACAGGAGGGACTGGCTGACCCTGCCCCAGGTGTCAGGAAGAATCGATAGCTGAATTGGACTGTAGAGCATGAATGCATGTGCCAGGCAAAGAAAGGGAGAAGGGGGCCCAGGGAAAGACAGCGGCAGGCCCGGGGCCTCAGATATCCGGAGAGAGAATCCTGCAGAGTTCCAGATGCCAGGCCAAGGAATTTCTCCCTCCAGAGGGTTATGGGACACAGAAAGTGACATTTCCTGATGTCAGGCCAGGCTCAGGGATGGAGTCAGACCCCGTCACACCCGGTGTCTGGTTGAGGAGGCAGAGGTGAAACATCTCACAAGCTGTGGCAGTCCCTGTTTACTGGAGGTGCACAAGTGCTGCGGGTACACAGAGGAGGCGTCTGATCCTTCCAGAAAGGGAGGGAAGGATTCTGAGTCGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCNNNN
|
pathogenic
| 309,816 |
Subsets and Splits
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