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 |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 7 at position 148419600, within the gene CNTNAP2 (contactin associated protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ATATCAGAACAATGTAACATTTACAAATGACATATTGAAAGCAAAGGCTGTTTTATTTAGCCAAGATGATTACCATTAGGAGTTACTTTATGTATTGTTGAAAGCAAATTTTAAACATGATGTTTTAGAAGTGTTTCTGATTTTTAAACCTGGTTTACAGGTATTACTTCTGCACTTACCAAATAATGCCAGATGGAAATTTATTATTTCTTGCAATTCCCATGATAGCTCTGTTCTTTATGCATTGTCTCAACACTTTCCCTTTTTTCCCAAAATGAGTAGAGAATTAAAGCCACCCAAAACAGCTTCTGCTACTAAAATGTTCTCATCCTTTCTCCTCCCTCTCCTTTTCCTGCCACAAAAGGTGAAAAATGAGATCCAATCCTCTCACCAAAATTTCAAACCTAGGACACTGGAATGACTGCAGGGATCAGTGGTTCTCCCATATCACCATCAATTAAGACATATAGGACACTGTCTTCCTTCAAGAGGGTTACAATGTGGCCATCAGACAGGAAACCAAACGGTGGATAAAGTATTAAGTAACTAAGTGCCAAATAAATGCTGGAAATCTTGACCTCTCCTTGGGATTATGGGTGTAACAAAAATCCCTACATCTGTTTATGAAGGCCATATTCAGTACATTTTAAATGGTAAATAATCTGTTTATGTGAAGAAAAAGAATTAAGTCTTTCTTCCAACTCTCTCCTTGGATAGCCTAGCACAGTGCAGCCTCCATAACCATGACATTCCCGCCCAAGCTCTCAGTGCCTAATCCTGCTTTGTCATTCACATCTCACAAAATCTTGACATCTTACATTCCAATACATTATCAAGCAAGCACAAGTATGCTGGTAGTAGCCTCTTTAAATAATATGTATAGACAACAACAACGACAAAAAATAGACTGTTTTAAAGTTTCAGGGAAAGTTGGTGGCTGATTTAAAGTTGTGCAGGAAACATCTTCTGTGTATGAAGCAAATGTCGATGTTTTGAAAAAAGCTAGGAGATGACTTTGAATGAATGCAAGGTTAGTGAGATCCTAAGCTCTCAAAATAGCATATTCCCTAGAGCTCAAGAAAGCTGGTCCAGGAGGTTGAAAAAGCTATTTTGTTGTTAAATTATTTTCTGGCCCTTCTTAATATTTAAAAATGTATTTCCCCTTGTGGCTTTCAACCACCTGCTCAAAAAAAGAGACTTGTTACATGAAAGTTTTCATTAAAGAGCTGAAAACAAGAATTTAGAGAGCCATTCCTAGAAAATGTCCTACTGCCCTGCATTTGACAAACAAGCATCCTTTACTAACAAGAGCAGGAATTCAGAGGCACAAGAAAAAGCATTGGCATGAGCCAAAGAGTCTGTCTTAATGTTACTTTTGAAAATCTGCTGAGCGGCCACCATATGCAGGCTGAGAGCTGGGCACAGGCGAAGCCATTGGAAGCACTTCAGGAACAAGCACACAGCTGTGGGACTTGAACATGCAAGTGTTCAGGTTGTGTCAAGAAGCTTTTCTTTCCTTCTATGATGGAATCTGTTCTTTTCTATCCTACTTTTTTCTCTCTTCCTCTCCTCACCACATTATACCCTGCTCTTACGCAGTAAACGTTTTAATGGCCCGTTTATGTCTCATGCCTCCAAACAACACTGAATTTGAAACCCCCCATTTTTTCTTTTCACCACCCTGTTGAGCAATTTTCCCAAAAAAAGGGCAGCAATTATTAAATTGAATTCAAGTAAGCCAGCCAAAGATAGGTCCTAAATTGCTAGTCCCAGTAGAACCACCTGATCCTAAACCAGTGCGAAACAAACAGTAACAATGTCCCCAGCTGACTTCAGCTAAGAACCAATGGCTCCTACCCCCGCCCCGCTTTTTTTTGTTGTTTTTTGTTTTGTTTTGAGACGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCACTGGCGCAATCTCGGGCTCACTGCAACCTCCTCCTCCTCCCACATTGAGGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCATCACACCCAGCTAATTTTTTTTTTTTTTTGTATTATTAGTAGAAGCCAGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTGATCCGTCCACCTCGGCCTTGCAAATTGCTGGGATTACAGGTGTGAGCCACCGTGCCGAGCCAGCCCCATTTTTTAAATGATGTTTTGGTTAAGAGTGGACCATGAGAATTAGCTGACAGCATCCCCTTTCTCTCTCCCTGCCTTGGTGGGACCCTCCCTGTGTGACCTTGGTCAAGTCCTCGAACTTTTGTCCCGTATTTAAGATGGAGCTGTTTTACCTACTTCATAAGACAGTTGCGAGGTGCCATTGATTCTTGACTGCAAAATACCTTGAAACCCTTATATAAAGACTGAAGTCAACGGAGCCTAGTGAAAGACTTACTTTGTGGCTTGTGGTTGAAAGTCACATCAAAAGACAAATGTGGCCACGTTCAGGAATTGGAGACTTACTGGCATGGCTCTACAGCTGCTCAGTTATTAATCATGCAGACTAACCTGTCAACACTGGGAGATGCAACATAGCAAAAGGACAGAGAAATTAGAATTTTTTGTGCAGAAAGCCCTAAATTCCCACCTGAATGTAACTTACAGCTCCCTTACCTACTCTCACACATGCCCTCAAACATGCTAGATTGGCTTATACATAGGCCAACACAAAATACAAACGTGACGTGTTCATGTAGCCTAGTGGCTATATGCCTATTCTCCATGTACCCTGCATGGTAGTGCTGCAAACTTTAAAGTACATTTCTTTCACAGCAGTATTTTTTTTCATAAGTGGCATATAAATGTCATTCAATGAAATGGGGAAATCACGTTGAGAAGTTGGTCTGTCATCTCCCATTGAGCAAAGACTGGCAGGAGATAATAAAAATAAATATGGGCACACATGTATTAATATACAGCACGCATTTACAAGTTTATTTTCCAGATAAAATTGTGCTATAAGAACAGCTCTACCAAGACAGTCTGCACCATTTCCAAGTCTCAGTTAATTTACAGCAACTGCTGCTTTCGGAGATGGCTGTGAAAATATGGAAGTTCCTCTCAAGTAGGCCAAGAAACAGTTCTAGATTTTACTAAGTTTTATTTTGTCAGGTTTTTTAAATTTTTTCAGTGAGCGTGGTGACTGCAGAGGTTAGTGCTGTGAAAAGCTGGGCTAAATATTCTTTCTGTAAAGTCAAACAGGATTCCATCCCCTGTGAAATAACACAAAATTTCACTCTCTAAAAGCAACAGCATGTAAACTAGAATGAAAGAAGGAAATTATGTACGTATGCCTAATATTCTTTGTGAATGTCTTTCATTTAACTAAAATTATATTAGAAACCAGATTGATAAATAAAAAATTCAAAGTAGTTTTAATTATCCTAAAAGCGATTCTTCGTGTTTTGTACCACTTGTCTCTCTTAAGAGCAATTTTCAACCTTCAGCAAAAGTTAAGTTCCAAGCACTGAAATATAAGCCTACTGAGAATATCGTCTTTCCACAAGTTGTGGAGATATAGTCACTCCTAAAAGGTCTGATTTGGGTACGTCCATGGTTAACCTCCTACCACAAATAGCTCCCCGTTAAAAGAGGAGTTTTTCTTAAAGTGGCTTAGTAGACATTGACTTTGGTTAGTTTACACCCATCTTGATAAAATGTGGTTCGAGTTCAGTTATCTCCAGAATATATTCTGATCCTTATTTGGAATGAGGGAGTAACACTGGATAGTGGGCACATGGATCCAAGCCAGGGAACTAGACAGCAAGGACTCGGCATGCATCGGAGGTGCGAAGCTTCCTAAATGCACTCCGTGTGCTTTTAGAGCTAAGTTATTACTCTCACTTGCTAGTTGTTCTGCAGCGAGCAGCTCTATGCAAACCACCCCTGCAAACCAAGGAAGCTGAGAGGCCAAAGAAAGAGGCTGAGAATTCCAATTTCTCAGAAAGAAACATTTCATAGGGAATTACAAACAGAGGCCATGTCTCAGGCAGCCACTAGACAGATGATGAATGCCTGCACTGTTACCCCCCCATGCCC | ATATCAGAACAATGTAACATTTACAAATGACATATTGAAAGCAAAGGCTGTTTTATTTAGCCAAGATGATTACCATTAGGAGTTACTTTATGTATTGTTGAAAGCAAATTTTAAACATGATGTTTTAGAAGTGTTTCTGATTTTTAAACCTGGTTTACAGGTATTACTTCTGCACTTACCAAATAATGCCAGATGGAAATTTATTATTTCTTGCAATTCCCATGATAGCTCTGTTCTTTATGCATTGTCTCAACACTTTCCCTTTTTTCCCAAAATGAGTAGAGAATTAAAGCCACCCAAAACAGCTTCTGCTACTAAAATGTTCTCATCCTTTCTCCTCCCTCTCCTTTTCCTGCCACAAAAGGTGAAAAATGAGATCCAATCCTCTCACCAAAATTTCAAACCTAGGACACTGGAATGACTGCAGGGATCAGTGGTTCTCCCATATCACCATCAATTAAGACATATAGGACACTGTCTTCCTTCAAGAGGGTTACAATGTGGCCATCAGACAGGAAACCAAACGGTGGATAAAGTATTAAGTAACTAAGTGCCAAATAAATGCTGGAAATCTTGACCTCTCCTTGGGATTATGGGTGTAACAAAAATCCCTACATCTGTTTATGAAGGCCATATTCAGTACATTTTAAATGGTAAATAATCTGTTTATGTGAAGAAAAAGAATTAAGTCTTTCTTCCAACTCTCTCCTTGGATAGCCTAGCACAGTGCAGCCTCCATAACCATGACATTCCCGCCCAAGCTCTCAGTGCCTAATCCTGCTTTGTCATTCACATCTCACAAAATCTTGACATCTTACATTCCAATACATTATCAAGCAAGCACAAGTATGCTGGTAGTAGCCTCTTTAAATAATATGTATAGACAACAACAACGACAAAAAATAGACTGTTTTAAAGTTTCAGGGAAAGTTGGTGGCTGATTTAAAGTTGTGCAGGAAACATCTTCTGTGTATGAAGCAAATGTCGATGTTTTGAAAAAAGCTAGGAGATGACTTTGAATGAATGCAAGGTTAGTGAGATCCTAAGCTCTCAAAATAGCATATTCCCTAGAGCTCAAGAAAGCTGGTCCAGGAGGTTGAAAAAGCTATTTTGTTGTTAAATTATTTTCTGGCCCTTCTTAATATTTAAAAATGTATTTCCCCTTGTGGCTTTCAACCACCTGCTCAAAAAAAGAGACTTGTTACATGAAAGTTTTCATTAAAGAGCTGAAAACAAGAATTTAGAGAGCCATTCCTAGAAAATGTCCTACTGCCCTGCATTTGACAAACAAGCATCCTTTACTAACAAGAGCAGGAATTCAGAGGCACAAGAAAAAGCATTGGCATGAGCCAAAGAGTCTGTCTTAATGTTACTTTTGAAAATCTGCTGAGCGGCCACCATATGCAGGCTGAGAGCTGGGCACAGGCGAAGCCATTGGAAGCACTTCAGGAACAAGCACACAGCTGTGGGACTTGAACATGCAAGTGTTCAGGTTGTGTCAAGAAGCTTTTCTTTCCTTCTATGATGGAATCTGTTCTTTTCTATCCTACTTTTTTCTCTCTTCCTCTCCTCACCACATTATACCCTGCTCTTACGCAGTAAACGTTTTAATGGCCCGTTTATGTCTCATGCCTCCAAACAACACTGAATTTGAAACCCCCCATTTTTTCTTTTCACCACCCTGTTGAGCAATTTTCCCAAAAAAAGGGCAGCAATTATTAAATTGAATTCAAGTAAGCCAGCCAAAGATAGGTCCTAAATTGCTAGTCCCAGTAGAACCACCTGATCCTAAACCAGTGCGAAACAAACAGTAACAATGTCCCCAGCTGACTTCAGCTAAGAACCAATGGCTCCTACCCCCGCCCCGCTTTTTTTTGTTGTTTTTTGTTTTGTTTTGAGACGGAGTCTTGCTCTGTCCCCCAGGCTGGAGTGCACTGGCGCAATCTCGGGCTCACTGCAACCTCCTCCTCCTCCCACATTGAGGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCATCACACCCAGCTAATTTTTTTTTTTTTTTTGTATTATTAGTAGAAGCCAGGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAAGTGATCCGTCCACCTCGGCCTTGCAAATTGCTGGGATTACAGGTGTGAGCCACCGTGCCGAGCCAGCCCCATTTTTTAAATGATGTTTTGGTTAAGAGTGGACCATGAGAATTAGCTGACAGCATCCCCTTTCTCTCTCCCTGCCTTGGTGGGACCCTCCCTGTGTGACCTTGGTCAAGTCCTCGAACTTTTGTCCCGTATTTAAGATGGAGCTGTTTTACCTACTTCATAAGACAGTTGCGAGGTGCCATTGATTCTTGACTGCAAAATACCTTGAAACCCTTATATAAAGACTGAAGTCAACGGAGCCTAGTGAAAGACTTACTTTGTGGCTTGTGGTTGAAAGTCACATCAAAAGACAAATGTGGCCACGTTCAGGAATTGGAGACTTACTGGCATGGCTCTACAGCTGCTCAGTTATTAATCATGCAGACTAACCTGTCAACACTGGGAGATGCAACATAGCAAAAGGACAGAGAAATTAGAATTTTTTGTGCAGAAAGCCCTAAATTCCCACCTGAATGTAACTTACAGCTCCCTTACCTACTCTCACACATGCCCTCAAACATGCTAGATTGGCTTATACATAGGCCAACACAAAATACAAACGTGACGTGTTCATGTAGCCTAGTGGCTATATGCCTATTCTCCATGTACCCTGCATGGTAGTGCTGCAAACTTTAAAGTACATTTCTTTCACAGCAGTATTTTTTTTCATAAGTGGCATATAAATGTCATTCAATGAAATGGGGAAATCACGTTGAGAAGTTGGTCTGTCATCTCCCATTGAGCAAAGACTGGCAGGAGATAATAAAAATAAATATGGGCACACATGTATTAATATACAGCACGCATTTACAAGTTTATTTTCCAGATAAAATTGTGCTATAAGAACAGCTCTACCAAGACAGTCTGCACCATTTCCAAGTCTCAGTTAATTTACAGCAACTGCTGCTTTCGGAGATGGCTGTGAAAATATGGAAGTTCCTCTCAAGTAGGCCAAGAAACAGTTCTAGATTTTACTAAGTTTTATTTTGTCAGGTTTTTTAAATTTTTTCAGTGAGCGTGGTGACTGCAGAGGTTAGTGCTGTGAAAAGCTGGGCTAAATATTCTTTCTGTAAAGTCAAACAGGATTCCATCCCCTGTGAAATAACACAAAATTTCACTCTCTAAAAGCAACAGCATGTAAACTAGAATGAAAGAAGGAAATTATGTACGTATGCCTAATATTCTTTGTGAATGTCTTTCATTTAACTAAAATTATATTAGAAACCAGATTGATAAATAAAAAATTCAAAGTAGTTTTAATTATCCTAAAAGCGATTCTTCGTGTTTTGTACCACTTGTCTCTCTTAAGAGCAATTTTCAACCTTCAGCAAAAGTTAAGTTCCAAGCACTGAAATATAAGCCTACTGAGAATATCGTCTTTCCACAAGTTGTGGAGATATAGTCACTCCTAAAAGGTCTGATTTGGGTACGTCCATGGTTAACCTCCTACCACAAATAGCTCCCCGTTAAAAGAGGAGTTTTTCTTAAAGTGGCTTAGTAGACATTGACTTTGGTTAGTTTACACCCATCTTGATAAAATGTGGTTCGAGTTCAGTTATCTCCAGAATATATTCTGATCCTTATTTGGAATGAGGGAGTAACACTGGATAGTGGGCACATGGATCCAAGCCAGGGAACTAGACAGCAAGGACTCGGCATGCATCGGAGGTGCGAAGCTTCCTAAATGCACTCCGTGTGCTTTTAGAGCTAAGTTATTACTCTCACTTGCTAGTTGTTCTGCAGCGAGCAGCTCTATGCAAACCACCCCTGCAAACCAAGGAAGCTGAGAGGCCAAAGAAAGAGGCTGAGAATTCCAATTTCTCAGAAAGAAACATTTCATAGGGAATTACAAACAGAGGCCATGTCTCAGGCAGCCACTAGACAGATGATGAATGCCTGCACTGTTACCCCCCCATGCC | benign | 129,831 |
Variant at chromosome position 148807624, chromosome 7, gene EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCCATCTCTACTAAAAACACAAAAATTAGGGGTGGTAGCCCATGCCTATAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGTACTCCAGGCTGATTAGTGACAGAGCAAGACCCTGTCTGTCTTTAAAAAAAAAAAAAAAATCACAAAAAACCTCAATGTTTTAAGAAAGTTTACGAATTTGTGTTGGGCTGTATGCAACCGGCTGTCCACAGGCCAGACAAGCTTGATAGAAGGTTGTATCAAATGGGTTATTAACGTCAAGGATTTCTGTTCAGAAAATCTGTGTTCACGGACGTCACTGAAGAGGCTTTTAGAGAAGCGCATTTCAGATCATGGTATAAAAAGCTTGCTGTGCAATGAGAATACACGACAGGGCTCAAAAACTACTGCTTTCCATCAATGCCACCTTGTCTTTCCTACGCATTTGGGGCTCTGGTACATTGAGCTCACTGGAGGCCTCAAGGATCTGCTTCCCAGCTGTTCCTCTGAGGATGGGTTGAGGGCTGTAGCTGGAATGAGCCATGTCAACAGGTACTTTTGAGCCCAAGTAATCTTTGGGGTCTCATGAACAGGCGATGATGAACAGATGGGCTCCATGCGCCTGTGCCTAGGCAAGGCCAGTGAGCCATCTAGAGAATGACCTAACCCAAATAATGAAGTAACTGCCTCAGGAGATTGATGGCTGCCCAGTTTGCCCAGGGTCCTGCTGAGTGCCGAGCGGAACATGAGGGCATCGAGGGCAACAAGCTCTGAAGTGAATGGTACCGTTTTCTGGGTGAGAGTGGAGATAGTTATTTAGATGTAAAATAGATCAGCACTGTCATTAAGAAACCATGGGACGAGGCTGAGGGAGGGATCTCCTCAATCCCAAATCAAGTGGCAAATTAACTGTAGGACTCAAGTTGCTGCGCCTGTGCACTGATGTGTCAGAGAGAGACCTGATCCCGCAAATGCTGTGGAACTGGAAAGCAAGATGAGTCCATTTAATTAGGTTTCATATTAATACTACCACATTGTAAATAAAAATCTAACTGTAGCAAAGGCAACTGCTAAGTAACTGACAGTATGGACTGGTTTGCAGCGGTTGTCAGGGTTCCCATGATGCTGCTGGTGAATGTACCTGGGGAGGGTGCAGGGAAGTTACCTCAAATTCTGGGACAAACCACATTATCATAAGGCATGCAAGGTACATGTCGTTTCCTTGACGCTTTCAGAGTTTGTGATTTTTACCTCTGAGAAGATATAAAACTACAGTTTGGTTATACCTATCAATCACCTTTTGTGATAAGGTAGGTAAGGAATCCCAACTTATATTGTGTTTGTTTCTAAAGAACTCTATCTAGACTAATGGAGTTTAGAACTAGGTACGTTCTTAAAAATAACCTAAAAGTCTACTCTGTCAGTTTATATATGGGGAACAGACTTGGAGGTTAAATCTCTTTCTCCAGGTTGCACAGCTGACTGGAACGTACCCACCCTGGTCTTGTCTATAAGATCAAGCCCTTTACTGGGTAAGCCCTCAGGATGCACAGCAGTGTTCTTCATATATGTCTTCCACATATTCACAGGCAGTATTAGTTAAATCAAGATTCATACAAAGACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAGGCAGCTGTTTCAGAGGAGGGGGGAGGAGGTAGCAGATGTCAAGGGATTTCCATTTCTCTTTCGATGCCGACATACTTCAGGGCATCAGCCTGGCTGTATCTGAAACAACAGGAAGGAGATGTCCGCTGGATGGCCACCCATCCAACATGTGCTGAGACTTAACACAACAAAGCCTGCTGAAGATAGTGGGTGCATTAAAATGTCTTTAAAAAAAAAAAAAAAAAAAAAACCCATCCAATTACACAGCTGCCTGCATAACGGCACATTCATAGAAGGCAATGCATAGGTCTGTGTTGCTGGCCATCTAATTGAGACGCTGCCAAGTTCTGAAGTGAACAAACCTGTCTACAAGCATTCCCAGAGCCTGACCAGCCTCCCCTATGCCTCTGAAGCAAGTGGTCCCAGGAAGGCTGGTCCACATCAGGATGCTTAGGCCTGACGCTGGGAAGGCAAAATAGAACCATGGTCTGGAAAAAATGATGACCATAGCAAAGAGGGCCAAAGAGCAGCCCGCCAGTTGCTCCCCCAGGTGAAGCAAGAACTGGAGTGCAGCGGACACCCAGAGAGGAGCACAAGAAGCCCACCATGGGGGGTGAGGCCACCGGGTCATCCCAAGGAAGCTCCACCCCACACTCTTCATTCAGAGCCAGCCTGGAGTGAAGGCAGCGGCCTTTGCTAAAGTGGGCCCTTCACTCAGACCCTGTCTGCCTCACTGAGAGCTCGCTGCTGTGCAACAGCCATTAAAGGCCAGCCTGAATATGCAAGAACACAGTACTCAAAGACAGCTTCTGGATGGGATGTACACGGGGCTACAGGAGTTCATTAACTAGACAGTCATCTGACTGCACTTAAATCTGTATTCAATGGCTGACTTAAATGTATCCCACAGAGCTTGACAGTGTCAACTGGCAGCCTAATGCCTAACCACACAGATACCATTGGTGGCCCACGTGTCCCAGGCATCCCCACAGGGTGATCAGACAGCGATTTGCCAACAGCCCCTTTTAAAATGGTAATGATATGTGTAATAAGTATTATAGCAAACAATAAATTAAGTAGATCTAATCCATAAAGATATGCATAGTATATTGTCAAGTAAAACCATGTTGCAGAAAAATCTATAGGACAGTGTGATCGCACTTATCTGGAAAACGCTCCACGAGTGAGCATGCAGCATGCGGCATGATATGAGAAGGTCTAGGACTCACCCAGCTGTCAACAGCAGGGTGAGAAATGGGGCTTTCTGCATGGATTTTACTCTATTTTAAAAATAAGCATGCCTTGTATAATATATAAATGGATAATAAATACATAACAGGAAAGTGTAACCTAATTCCCCACTAATGCTCATGGCAAAGTGACCCATCAAAAGAAGCAAAGAACTAAAAACCCTCCTTTGTCCAGAGTTCACAATCCAGTAGAAAAAGCCCTTAGAGATCATGCTAGAAATGTACTTTACCAACCTGTAATCAAAAAACAGCTCTTCGCCAGTCTGGATGGCTCTCTTGGCAAAAATACCTATCCTGTGATCACCGTTAACCATCATAACTGCAAAGAGACACACTGGTGTCAGTGAGCATGAAGACGGGCCACGGGGGGTTAACTGACTTGTTCACATAACAAACAACTATCCCAGAAGTATTCAAGTCCATCATCACAGGACTGAAAAGGGAGTTCCAATTCTCACGTCAAAGGTACCTACCTTTTGCATAGCAGTTTGGATTTACCGAATGATTTGCAAAACGAATTTTGTTACCCTTGCGGGTTGCATCCACCACAAAATCTAAAAAGAAAAAAGTAAGCACAGCCCAGTGAATAATTTCAGTTATAAGTAAACCAAGTTATTATGATTTTGTAAATGCAACTGGTTACAGTTCTTCAGGGTTTGCCTGCAAAAGCAAATAAATCAAGCAGCTTCATTCAGTAAGAAATGACATTTGGAAGAACACACTATTGTTCCAGGTTAAAATTAATCACCTATAATTCAAGATGGTTATCTGACTCAAAAGCTATTAATTATCAACTATAAACATACATTACTGAGCAAAACATAGCAAAAAAAAA | AGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCCATCTCTACTAAAAACACAAAAATTAGGGGTGGTAGCCCATGCCTATAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGTACTCCAGGCTGATTAGTGACAGAGCAAGACCCTGTCTGTCTTTAAAAAAAAAAAAAAAATCACAAAAAACCTCAATGTTTTAAGAAAGTTTACGAATTTGTGTTGGGCTGTATGCAACCGGCTGTCCACAGGCCAGACAAGCTTGATAGAAGGTTGTATCAAATGGGTTATTAACGTCAAGGATTTCTGTTCAGAAAATCTGTGTTCACGGACGTCACTGAAGAGGCTTTTAGAGAAGCGCATTTCAGATCATGGTATAAAAAGCTTGCTGTGCAATGAGAATACACGACAGGGCTCAAAAACTACTGCTTTCCATCAATGCCACCTTGTCTTTCCTACGCATTTGGGGCTCTGGTACATTGAGCTCACTGGAGGCCTCAAGGATCTGCTTCCCAGCTGTTCCTCTGAGGATGGGTTGAGGGCTGTAGCTGGAATGAGCCATGTCAACAGGTACTTTTGAGCCCAAGTAATCTTTGGGGTCTCATGAACAGGCGATGATGAACAGATGGGCTCCATGCGCCTGTGCCTAGGCAAGGCCAGTGAGCCATCTAGAGAATGACCTAACCCAAATAATGAAGTAACTGCCTCAGGAGATTGATGGCTGCCCAGTTTGCCCAGGGTCCTGCTGAGTGCCGAGCGGAACATGAGGGCATCGAGGGCAACAAGCTCTGAAGTGAATGGTACCGTTTTCTGGGTGAGAGTGGAGATAGTTATTTAGATGTAAAATAGATCAGCACTGTCATTAAGAAACCATGGGACGAGGCTGAGGGAGGGATCTCCTCAATCCCAAATCAAGTGGCAAATTAACTGTAGGACTCAAGTTGCTGCGCCTGTGCACTGATGTGTCAGAGAGAGACCTGATCCCGCAAATGCTGTGGAACTGGAAAGCAAGATGAGTCCATTTAATTAGGTTTCATATTAATACTACCACATTGTAAATAAAAATCTAACTGTAGCAAAGGCAACTGCTAAGTAACTGACAGTATGGACTGGTTTGCAGCGGTTGTCAGGGTTCCCATGATGCTGCTGGTGAATGTACCTGGGGAGGGTGCAGGGAAGTTACCTCAAATTCTGGGACAAACCACATTATCATAAGGCATGCAAGGTACATGTCGTTTCCTTGACGCTTTCAGAGTTTGTGATTTTTACCTCTGAGAAGATATAAAACTACAGTTTGGTTATACCTATCAATCACCTTTTGTGATAAGGTAGGTAAGGAATCCCAACTTATATTGTGTTTGTTTCTAAAGAACTCTATCTAGACTAATGGAGTTTAGAACTAGGTACGTTCTTAAAAATAACCTAAAAGTCTACTCTGTCAGTTTATATATGGGGAACAGACTTGGAGGTTAAATCTCTTTCTCCAGGTTGCACAGCTGACTGGAACGTACCCACCCTGGTCTTGTCTATAAGATCAAGCCCTTTACTGGGTAAGCCCTCAGGATGCACAGCAGTGTTCTTCATATATGTCTTCCACATATTCACAGGCAGTATTAGTTAAATCAAGATTCATACAAAGACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAGGCAGCTGTTTCAGAGGAGGGGGAGGAGGTAGCAGATGTCAAGGGATTTCCATTTCTCTTTCGATGCCGACATACTTCAGGGCATCAGCCTGGCTGTATCTGAAACAACAGGAAGGAGATGTCCGCTGGATGGCCACCCATCCAACATGTGCTGAGACTTAACACAACAAAGCCTGCTGAAGATAGTGGGTGCATTAAAATGTCTTTAAAAAAAAAAAAAAAAAAAAAACCCATCCAATTACACAGCTGCCTGCATAACGGCACATTCATAGAAGGCAATGCATAGGTCTGTGTTGCTGGCCATCTAATTGAGACGCTGCCAAGTTCTGAAGTGAACAAACCTGTCTACAAGCATTCCCAGAGCCTGACCAGCCTCCCCTATGCCTCTGAAGCAAGTGGTCCCAGGAAGGCTGGTCCACATCAGGATGCTTAGGCCTGACGCTGGGAAGGCAAAATAGAACCATGGTCTGGAAAAAATGATGACCATAGCAAAGAGGGCCAAAGAGCAGCCCGCCAGTTGCTCCCCCAGGTGAAGCAAGAACTGGAGTGCAGCGGACACCCAGAGAGGAGCACAAGAAGCCCACCATGGGGGGTGAGGCCACCGGGTCATCCCAAGGAAGCTCCACCCCACACTCTTCATTCAGAGCCAGCCTGGAGTGAAGGCAGCGGCCTTTGCTAAAGTGGGCCCTTCACTCAGACCCTGTCTGCCTCACTGAGAGCTCGCTGCTGTGCAACAGCCATTAAAGGCCAGCCTGAATATGCAAGAACACAGTACTCAAAGACAGCTTCTGGATGGGATGTACACGGGGCTACAGGAGTTCATTAACTAGACAGTCATCTGACTGCACTTAAATCTGTATTCAATGGCTGACTTAAATGTATCCCACAGAGCTTGACAGTGTCAACTGGCAGCCTAATGCCTAACCACACAGATACCATTGGTGGCCCACGTGTCCCAGGCATCCCCACAGGGTGATCAGACAGCGATTTGCCAACAGCCCCTTTTAAAATGGTAATGATATGTGTAATAAGTATTATAGCAAACAATAAATTAAGTAGATCTAATCCATAAAGATATGCATAGTATATTGTCAAGTAAAACCATGTTGCAGAAAAATCTATAGGACAGTGTGATCGCACTTATCTGGAAAACGCTCCACGAGTGAGCATGCAGCATGCGGCATGATATGAGAAGGTCTAGGACTCACCCAGCTGTCAACAGCAGGGTGAGAAATGGGGCTTTCTGCATGGATTTTACTCTATTTTAAAAATAAGCATGCCTTGTATAATATATAAATGGATAATAAATACATAACAGGAAAGTGTAACCTAATTCCCCACTAATGCTCATGGCAAAGTGACCCATCAAAAGAAGCAAAGAACTAAAAACCCTCCTTTGTCCAGAGTTCACAATCCAGTAGAAAAAGCCCTTAGAGATCATGCTAGAAATGTACTTTACCAACCTGTAATCAAAAAACAGCTCTTCGCCAGTCTGGATGGCTCTCTTGGCAAAAATACCTATCCTGTGATCACCGTTAACCATCATAACTGCAAAGAGACACACTGGTGTCAGTGAGCATGAAGACGGGCCACGGGGGGTTAACTGACTTGTTCACATAACAAACAACTATCCCAGAAGTATTCAAGTCCATCATCACAGGACTGAAAAGGGAGTTCCAATTCTCACGTCAAAGGTACCTACCTTTTGCATAGCAGTTTGGATTTACCGAATGATTTGCAAAACGAATTTTGTTACCCTTGCGGGTTGCATCCACCACAAAATCTAAAAAGAAAAAAGTAAGCACAGCCCAGTGAATAATTTCAGTTATAAGTAAACCAAGTTATTATGATTTTGTAAATGCAACTGGTTACAGTTCTTCAGGGTTTGCCTGCAAAAGCAAATAAATCAAGCAGCTTCATTCAGTAAGAAATGACATTTGGAAGAACACACTATTGTTCCAGGTTAAAATTAATCACCTATAATTCAAGATGGTTATCTGACTCAAAAGCTATTAATTATCAACTATAAACATACATTACTGAGCAAAACATAGCAAAAAAAAAN | benign | 129,836 |
Regarding the variant at chromosome 7 and position 148809078, affecting gene EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Weaver_syndrome'] | AGACTAATGGAGTTTAGAACTAGGTACGTTCTTAAAAATAACCTAAAAGTCTACTCTGTCAGTTTATATATGGGGAACAGACTTGGAGGTTAAATCTCTTTCTCCAGGTTGCACAGCTGACTGGAACGTACCCACCCTGGTCTTGTCTATAAGATCAAGCCCTTTACTGGGTAAGCCCTCAGGATGCACAGCAGTGTTCTTCATATATGTCTTCCACATATTCACAGGCAGTATTAGTTAAATCAAGATTCATACAAAGACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAGGCAGCTGTTTCAGAGGAGGGGGGAGGAGGTAGCAGATGTCAAGGGATTTCCATTTCTCTTTCGATGCCGACATACTTCAGGGCATCAGCCTGGCTGTATCTGAAACAACAGGAAGGAGATGTCCGCTGGATGGCCACCCATCCAACATGTGCTGAGACTTAACACAACAAAGCCTGCTGAAGATAGTGGGTGCATTAAAATGTCTTTAAAAAAAAAAAAAAAAAAAAAACCCATCCAATTACACAGCTGCCTGCATAACGGCACATTCATAGAAGGCAATGCATAGGTCTGTGTTGCTGGCCATCTAATTGAGACGCTGCCAAGTTCTGAAGTGAACAAACCTGTCTACAAGCATTCCCAGAGCCTGACCAGCCTCCCCTATGCCTCTGAAGCAAGTGGTCCCAGGAAGGCTGGTCCACATCAGGATGCTTAGGCCTGACGCTGGGAAGGCAAAATAGAACCATGGTCTGGAAAAAATGATGACCATAGCAAAGAGGGCCAAAGAGCAGCCCGCCAGTTGCTCCCCCAGGTGAAGCAAGAACTGGAGTGCAGCGGACACCCAGAGAGGAGCACAAGAAGCCCACCATGGGGGGTGAGGCCACCGGGTCATCCCAAGGAAGCTCCACCCCACACTCTTCATTCAGAGCCAGCCTGGAGTGAAGGCAGCGGCCTTTGCTAAAGTGGGCCCTTCACTCAGACCCTGTCTGCCTCACTGAGAGCTCGCTGCTGTGCAACAGCCATTAAAGGCCAGCCTGAATATGCAAGAACACAGTACTCAAAGACAGCTTCTGGATGGGATGTACACGGGGCTACAGGAGTTCATTAACTAGACAGTCATCTGACTGCACTTAAATCTGTATTCAATGGCTGACTTAAATGTATCCCACAGAGCTTGACAGTGTCAACTGGCAGCCTAATGCCTAACCACACAGATACCATTGGTGGCCCACGTGTCCCAGGCATCCCCACAGGGTGATCAGACAGCGATTTGCCAACAGCCCCTTTTAAAATGGTAATGATATGTGTAATAAGTATTATAGCAAACAATAAATTAAGTAGATCTAATCCATAAAGATATGCATAGTATATTGTCAAGTAAAACCATGTTGCAGAAAAATCTATAGGACAGTGTGATCGCACTTATCTGGAAAACGCTCCACGAGTGAGCATGCAGCATGCGGCATGATATGAGAAGGTCTAGGACTCACCCAGCTGTCAACAGCAGGGTGAGAAATGGGGCTTTCTGCATGGATTTTACTCTATTTTAAAAATAAGCATGCCTTGTATAATATATAAATGGATAATAAATACATAACAGGAAAGTGTAACCTAATTCCCCACTAATGCTCATGGCAAAGTGACCCATCAAAAGAAGCAAAGAACTAAAAACCCTCCTTTGTCCAGAGTTCACAATCCAGTAGAAAAAGCCCTTAGAGATCATGCTAGAAATGTACTTTACCAACCTGTAATCAAAAAACAGCTCTTCGCCAGTCTGGATGGCTCTCTTGGCAAAAATACCTATCCTGTGATCACCGTTAACCATCATAACTGCAAAGAGACACACTGGTGTCAGTGAGCATGAAGACGGGCCACGGGGGGTTAACTGACTTGTTCACATAACAAACAACTATCCCAGAAGTATTCAAGTCCATCATCACAGGACTGAAAAGGGAGTTCCAATTCTCACGTCAAAGGTACCTACCTTTTGCATAGCAGTTTGGATTTACCGAATGATTTGCAAAACGAATTTTGTTACCCTTGCGGGTTGCATCCACCACAAAATCTAAAAAGAAAAAAGTAAGCACAGCCCAGTGAATAATTTCAGTTATAAGTAAACCAAGTTATTATGATTTTGTAAATGCAACTGGTTACAGTTCTTCAGGGTTTGCCTGCAAAAGCAAATAAATCAAGCAGCTTCATTCAGTAAGAAATGACATTTGGAAGAACACACTATTGTTCCAGGTTAAAATTAATCACCTATAATTCAAGATGGTTATCTGACTCAAAAGCTATTAATTATCAACTATAAACATACATTACTGAGCAAAACATAGCAAAAAAAAAAAAAAATCTGACAAAATTCTTCCAAACATCACGAATAGGCATTTTCACATTTAAAATTAGTTTTTTTCATTATAATGTCTATAAAGCATTCATAGAAAAAAACCTATTCTACTTGTTCCAACTAAGAGTTTCTCTGAATATCTTACATGTTAAGCCTACCTCCATTTTCACATAATCCCACCAGAAACATCCCTACACAGCCTTACATTCTACCCCAGAACATCAGCTATGAAAGCAGCTGCCTTTCCTCTCAGTCCTTTGAGAATATCCAGGGGAGTCTGGAAGATGGTTGCAAATGCAGTGCTCCTCCCCTCCTTCCCCGCTCAGAGGCACTGACTGGAGGAGGTGTGCTGAGCTGCCTGAACACAAGAGGTGAGGTGAGCAGCAAGAGCACAACGTCCCCTTCACAGCCAGATGCTGGGATAGTGCCACCCACAGACAGCCGGGACTCCAGAGAGGCGGTTTCCTGCACATCTAGTCTATCTGCTCCCTGAGGAATTCCTTGCTCCAGTTCCTTTCAAGCAAGCAGCCCCCCATGCCTCTAAGGAGATCCTCCTTCTGGTCACCTCACTGACCTCTACCCTCGTTTCTGAACACTCGGCCGGCAGAAGGCTGCCACATGCAACTCAGGAACTCACTGCCTCCCAGCTCTGAAACATACCATTGTTCAAGTTGAACAGAAAGCTGCACATGTATTTATCATACACTTTCCCTCTTCTGTCAGCTTCATCTTGAGAAATAATCTAAAAAGAAAGACACAGGAGAAAATTCTTTTGGATAAAGGTGATCAAGCCTGACAGAACACACAAAAGCGCACAGAGTGAATACTGGACCTTCTGGAGAAAACGCAACAAAAAGGGTCACTACAGCCAAGTTCTCTTTCCCATTCGGTCTGCGCAGTAATAAAGAATAACTGTATACTAAGGACCCCAACTCAGAAATATTTCCACATCCTGAAGTAATTATCCTTGGAGAAAGTGAGGAACCAAAGTCTTTTTGCTGAGTTTTTTAAAAAAGCCGGCTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGGGCGCGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGACACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCTGAGGTTGCGGTGAGCCAAAATCACGCCATTGCACTCCGGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTTGGGTGAGCTGGTTCCAAACTGAAGCTAGGCCTATGATTTTTCGGTAACACTGTCGACAATTTAAAAGGTGAATAACTAATGACGTTGTTGTTTCTAGGTCCTTATCAACTAGGTTGTGGATTAAGCAGGCCACTCTATGGTAAAGCTCTTGTTCTCCCTGTTGTCCCTAGACGAGAAAAACTAAATGTGGCTAGAACCAA | AGACTAATGGAGTTTAGAACTAGGTACGTTCTTAAAAATAACCTAAAAGTCTACTCTGTCAGTTTATATATGGGGAACAGACTTGGAGGTTAAATCTCTTTCTCCAGGTTGCACAGCTGACTGGAACGTACCCACCCTGGTCTTGTCTATAAGATCAAGCCCTTTACTGGGTAAGCCCTCAGGATGCACAGCAGTGTTCTTCATATATGTCTTCCACATATTCACAGGCAGTATTAGTTAAATCAAGATTCATACAAAGACAACTAAAAAACCCAAGGAGTTAAATTTAAAAGTTTTTTGTTGAGCAGTCCTGAAAGCAGTTATTGACACGTTATGAGAGATGATTCAACAAGGACAAGTTCAAGTATTCTTTATTCAAAGTTGAAAAATGTACCATACTGCATTATTGCAAAAATTCACTGGTACAAAACACTTTGCAGCTGGTGAGAAGGCAATAAAAAGTTGATTTTTAAACTCATTACTATAAATTATTCTTACAGTACTTTGCAAATTCAGAATTTCAAACTGCATGTTCTTTTTCTAAATTGCCCACAGTACTCGAGGTTCCTGAAGCTAAGGCAGCTGTTTCAGAGGAGGGGGGAGGAGGTAGCAGATGTCAAGGGATTTCCATTTCTCTTTCGATGCCGACATACTTCAGGGCATCAGCCTGGCTGTATCTGAAACAACAGGAAGGAGATGTCCGCTGGATGGCCACCCATCCAACATGTGCTGAGACTTAACACAACAAAGCCTGCTGAAGATAGTGGGTGCATTAAAATGTCTTTAAAAAAAAAAAAAAAAAAAAAACCCATCCAATTACACAGCTGCCTGCATAACGGCACATTCATAGAAGGCAATGCATAGGTCTGTGTTGCTGGCCATCTAATTGAGACGCTGCCAAGTTCTGAAGTGAACAAACCTGTCTACAAGCATTCCCAGAGCCTGACCAGCCTCCCCTATGCCTCTGAAGCAAGTGGTCCCAGGAAGGCTGGTCCACATCAGGATGCTTAGGCCTGACGCTGGGAAGGCAAAATAGAACCATGGTCTGGAAAAAATGATGACCATAGCAAAGAGGGCCAAAGAGCAGCCCGCCAGTTGCTCCCCCAGGTGAAGCAAGAACTGGAGTGCAGCGGACACCCAGAGAGGAGCACAAGAAGCCCACCATGGGGGGTGAGGCCACCGGGTCATCCCAAGGAAGCTCCACCCCACACTCTTCATTCAGAGCCAGCCTGGAGTGAAGGCAGCGGCCTTTGCTAAAGTGGGCCCTTCACTCAGACCCTGTCTGCCTCACTGAGAGCTCGCTGCTGTGCAACAGCCATTAAAGGCCAGCCTGAATATGCAAGAACACAGTACTCAAAGACAGCTTCTGGATGGGATGTACACGGGGCTACAGGAGTTCATTAACTAGACAGTCATCTGACTGCACTTAAATCTGTATTCAATGGCTGACTTAAATGTATCCCACAGAGCTTGACAGTGTCAACTGGCAGCCTAATGCCTAACCACACAGATACCATTGGTGGCCCACGTGTCCCAGGCATCCCCACAGGGTGATCAGACAGCGATTTGCCAACAGCCCCTTTTAAAATGGTAATGATATGTGTAATAAGTATTATAGCAAACAATAAATTAAGTAGATCTAATCCATAAAGATATGCATAGTATATTGTCAAGTAAAACCATGTTGCAGAAAAATCTATAGGACAGTGTGATCGCACTTATCTGGAAAACGCTCCACGAGTGAGCATGCAGCATGCGGCATGATATGAGAAGGTCTAGGACTCACCCAGCTGTCAACAGCAGGGTGAGAAATGGGGCTTTCTGCATGGATTTTACTCTATTTTAAAAATAAGCATGCCTTGTATAATATATAAATGGATAATAAATACATAACAGGAAAGTGTAACCTAATTCCCCACTAATGCTCATGGCAAAGTGACCCATCAAAAGAAGCAAAGAACTAAAAACCCTCCTTTGTCCAGAGTTCACAATCCAGTAGAAAAAGCCCTTAGAGATCATGCTAGAAATGTACTTTACCAACCTGTAATCAAAAAAACAGCTCTTCGCCAGTCTGGATGGCTCTCTTGGCAAAAATACCTATCCTGTGATCACCGTTAACCATCATAACTGCAAAGAGACACACTGGTGTCAGTGAGCATGAAGACGGGCCACGGGGGGTTAACTGACTTGTTCACATAACAAACAACTATCCCAGAAGTATTCAAGTCCATCATCACAGGACTGAAAAGGGAGTTCCAATTCTCACGTCAAAGGTACCTACCTTTTGCATAGCAGTTTGGATTTACCGAATGATTTGCAAAACGAATTTTGTTACCCTTGCGGGTTGCATCCACCACAAAATCTAAAAAGAAAAAAGTAAGCACAGCCCAGTGAATAATTTCAGTTATAAGTAAACCAAGTTATTATGATTTTGTAAATGCAACTGGTTACAGTTCTTCAGGGTTTGCCTGCAAAAGCAAATAAATCAAGCAGCTTCATTCAGTAAGAAATGACATTTGGAAGAACACACTATTGTTCCAGGTTAAAATTAATCACCTATAATTCAAGATGGTTATCTGACTCAAAAGCTATTAATTATCAACTATAAACATACATTACTGAGCAAAACATAGCAAAAAAAAAAAAAAATCTGACAAAATTCTTCCAAACATCACGAATAGGCATTTTCACATTTAAAATTAGTTTTTTTCATTATAATGTCTATAAAGCATTCATAGAAAAAAACCTATTCTACTTGTTCCAACTAAGAGTTTCTCTGAATATCTTACATGTTAAGCCTACCTCCATTTTCACATAATCCCACCAGAAACATCCCTACACAGCCTTACATTCTACCCCAGAACATCAGCTATGAAAGCAGCTGCCTTTCCTCTCAGTCCTTTGAGAATATCCAGGGGAGTCTGGAAGATGGTTGCAAATGCAGTGCTCCTCCCCTCCTTCCCCGCTCAGAGGCACTGACTGGAGGAGGTGTGCTGAGCTGCCTGAACACAAGAGGTGAGGTGAGCAGCAAGAGCACAACGTCCCCTTCACAGCCAGATGCTGGGATAGTGCCACCCACAGACAGCCGGGACTCCAGAGAGGCGGTTTCCTGCACATCTAGTCTATCTGCTCCCTGAGGAATTCCTTGCTCCAGTTCCTTTCAAGCAAGCAGCCCCCCATGCCTCTAAGGAGATCCTCCTTCTGGTCACCTCACTGACCTCTACCCTCGTTTCTGAACACTCGGCCGGCAGAAGGCTGCCACATGCAACTCAGGAACTCACTGCCTCCCAGCTCTGAAACATACCATTGTTCAAGTTGAACAGAAAGCTGCACATGTATTTATCATACACTTTCCCTCTTCTGTCAGCTTCATCTTGAGAAATAATCTAAAAAGAAAGACACAGGAGAAAATTCTTTTGGATAAAGGTGATCAAGCCTGACAGAACACACAAAAGCGCACAGAGTGAATACTGGACCTTCTGGAGAAAACGCAACAAAAAGGGTCACTACAGCCAAGTTCTCTTTCCCATTCGGTCTGCGCAGTAATAAAGAATAACTGTATACTAAGGACCCCAACTCAGAAATATTTCCACATCCTGAAGTAATTATCCTTGGAGAAAGTGAGGAACCAAAGTCTTTTTGCTGAGTTTTTTAAAAAAGCCGGCTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGGGCGCGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGACACTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCTGAGGTTGCGGTGAGCCAAAATCACGCCATTGCACTCCGGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTTGGGTGAGCTGGTTCCAAACTGAAGCTAGGCCTATGATTTTTCGGTAACACTGTCGACAATTTAAAAGGTGAATAACTAATGACGTTGTTGTTTCTAGGTCCTTATCAACTAGGTTGTGGATTAAGCAGGCCACTCTATGGTAAAGCTCTTGTTCTCCCTGTTGTCCCTAGACGAGAAAAACTAAATGTGGCTAGAACCA | pathogenic | 129,844 |
Located at chromosome 7 position 148832759, the variant affecting gene EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GAAGACAACAGAGAAGAAAGAAGAATAGCCAATCAAACAAAAGTTAAGACAGAATAGAATAGTTAAGCATACAAGGTAAAGAAAGTTGACATTCATAGGAGGAAGAGCATTTTCAATGAAGAATAAAAATGACAGCAGTTATAGATAAAGACTGGACAGTTCTGAAGTACATGTTTAAAGAGACTAATTCCAAGTGAAGACAAGTCTAAGTCTTAAGAGGCCTTTGAAAAGAGTATTGGTTGAAAACAGAATTTTAGAAAGATAATTATAATAAGCAGAATGGACTGGCTATGCCTGACTGGGAGGACACAGAAGCTCTTTAAAGGGTGAGATGGCGTAGGCTCGGCCCAGCACTATGATCATGGCCCACAGGTAAGAACACGCTGGGAAAGGCCACACACAGGACTAGTAGCAGCCAGGGAATGTGGAAAAAATCTCAAATAATCCCTAGGTAACAAATTTAGGACAACTGGAGAGTTCATAAAGATAACAAGTACCGTAGACAGACAAGGAAAAGAAAAAGTGGGATAAAAGGAGCATATAATTAAAATGCAGGTTTTAATGTATTCATATATTCAAATTCAAGCTTATGTACACACTAGAGGCCTGTTTTCATCTCATTTCACTTGCACTAATCTCATTTAAACTAGGGGTTGATTTCTTTCTATCTAAGCCAAAATCAAGTGACACTTAGATATTTTGTCTTTTCAATCATATCCACATCATCCTGCTCTCCAAAACGTATCTTAGTTACAATAAAGATTGTGTGCCTAATCTGCTTTGGTCAGCAAAATCAGACAGGGTCTGGCTCTGTCACCCAGGCTAGACCAGCAAAATCCATGGGTGATTCATAAATTAATGACAAATTTAAATAATATATTCTTCCAGAATTTCAGTCTGTGAAAACATGAAACTTCCCTCAAGGTCATGCAATGTAATTCTCAAACTACACTCAAATTTATACAACTACAGAAGAGTAACTGAAGTTGAGACTCTACTGTACAAAGTATAAAAGTTACTAAAAACTTCCCCAAAGCAGGTTCACCAAGGACTTCTATCAACATTTTATTAGCCTTCCCACTTTATATATCAATTAAGTAATACAACTATATATTTTTTATTTAGCAATACAAGTCAAGAACACATGCTTCAGTTTCTCTTTAGCATTTTATTACAAAAGCTGCTGCGTCAGAGTTAGCAATGGAACTATGTTTCAGCTCATGTTTCACAAGCCCTATGAATTTTACACCATAATGTACATTATCACAATAAAATGCTACCTAAAGTTGTTTTAAATAATAAGTTCTCAATTAACAAAAACTCAAAGTCAGACTTAGATTACAGGACACTGACTTTTTTAAGGATAAGAACTATAAGCTTCATTCCTTTTGTTTTTTTCAGACAGGGTCTGGCTGTCACCCAAGCTAGAGTACAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCTCAAGCCATCCTTCCACCTCAGCCTCCTGAGTAGCTTGGGACTACAGACATGCGCCACACCCAGCTAACTTTTGTTTTGAGGACACAGCGTTTTGCCATATTGCCCAGGTGGATCTCCAATTCCCAGACTCAAGTAATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAATGCCCAGCCCATCTTTTAAATATTTTTAATCCTAGGTATGGTTACTGCTTAACACTTTTCCTTTGGAGAGTATAGGAAAAGAGTAATACTGCACAGGCCTTAAAAAAACTACCTTAATCAATTTTTAAAAATTACTTCAAGTGTTATTTTGATAGCTTTTTAGAATTTATACTGTCTTGATTCACCTTGACAATAAAATTATCTATGCTTTTTTACTTCAAATAAGTTATTATCAAATAAGCAGAAGATATCTTATTTACATACCATAAAATTCTGCTGTAGGGGAGACCAAGAATACATTATGGGTACTGAAGCAACTGCATTCAGAGTCTTTAATGGGATGACTTGTGTTGGAAAATCCAAGTCACTGGTCACCGAACACTAAAACAGAAAAAATAAAATTGACTCTTAAGAATAAAAGGACAACCTTAAGCTGTAGCCATCATATTGTAAAGAGATGCTGCCTACCCAAATATTTAATTTTGAAAAAAAAGTCCTTACCTAGGACAGTAAAGTGGTCATATAAACCAAATAGGATTCTCTCTTTTCTTTTACTTAGGGTGCAAAAATGCTTCAAATTTTCCAAATTTTCAAAACCTCCAACCCTTCCCATACTTACCAATATCAGTAAGAATCAAAAACTGTACTTATATGAGATTCAGCGATCTGATTAACTCCTCCATGCTTTTCCTATACATTTATTTCCTAGCTCATCCTTCATTTCTCTTACATTCCAACCACACAGAATAGTAATATGTATACCAAATAAGCCACTTAAATCTTACTTAATAAGAATAAGAAAACTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAATAAAATAAAATAAAATAAAAAGAATAAGAAAACTTGTTCAGTTAATCTTCCTTATCTTCCTTTTTTAAAATCTAAGTGTCAATTGCTGATATTATCAGATGATACATAAATATTAAGGGTAATGGGTTTGTGTTTCAATCACAACAAAGTAAATTTAAGTCTATTCTGCAAAACTGTAATCTCTGAATTAATAATATTAGCTGATTACTAAGTACTTTCTATGTGCTAGGCTATTTTAAACACATTACATGTCTTCTATTTAATCCTCATTACAACACTGTAAGATGGGTACTACTCTTAGCCCCCATTTTACAGGTGAGAAAACTATAGAAAAGAAAGGATAAGTAGCTTGCCCAAAGTTGCGCATGGTTCTCGGGCTAGAATGTAAACTCCAAAAGCCTGACTCTGGAGCCCCTGCTCTTCCCGCTCCTTATATTGCCATGATACCATATTGCTAAAATGTGTCAGTGCACATAGTCCCTTGAAACACCATATTTCATACAATCTATGATGACAGCGATTTCAAGGTACATCATTATCTTCTGTATCACTAAGAAAAAATGCTGCCAACTAAACAAAGGTATAATCCATTCTTATCACAGTGATTCTAAGATGCATGTTGTTTCCAATGTTAAAATGTGAAAAATTTTGCATCTTTGATTCTCTGAAATATGGTATAACTCTGTGCCTAAATAACCACAGCACTTTCCACCCTGTCTACGAATCCGAGATTCCTTAAAGAGTACTACTGCCCAGGTGTAAGTCCTCCAGAGCCTTCTCAAAAATATCCTAGACATACATTCATAATCCACAATCAATGAAAATAGAGCAAAAAAGAAGTGTAGTAAAATGAAACTGAAAAATCATTATATATATATATATACACACACACACACACACACACACACACACATATTAAATGTTTAAATTTTTTATTTAAAATGTCTTAAAAATAGCAGAACTAGTTGTGGTGAAATTCAGAGTAGAAATCTGGCATATGGGCCACACCTGACCCTCAGCATTGGGTTGCATCAGGCCAGTGGGATAATCTCTCAATCATCACAGTCACTGCAGCACAAAAATAATTCCTTCCTTAGTGGAAGTAAAGGTTTAAGGATGGAGTAGTTAGGAAGAACTGTGACAGTGATTCATCTATTAATTTGCTTTCCAAAAAGGCAAAGATAAAGGTAATAATACTAATAAGGCTCTTAACTCGAGTAAACAAGAAGGTGTGAACAGTTTACTAACACTCCAGAGCCCACAATCTTTCCCCTTCCTGCTATTTGGCCTCTGATACAATCCTTCATCCATCCATCCAATAATCCAATAAAAACAG | GAAGACAACAGAGAAGAAAGAAGAATAGCCAATCAAACAAAAGTTAAGACAGAATAGAATAGTTAAGCATACAAGGTAAAGAAAGTTGACATTCATAGGAGGAAGAGCATTTTCAATGAAGAATAAAAATGACAGCAGTTATAGATAAAGACTGGACAGTTCTGAAGTACATGTTTAAAGAGACTAATTCCAAGTGAAGACAAGTCTAAGTCTTAAGAGGCCTTTGAAAAGAGTATTGGTTGAAAACAGAATTTTAGAAAGATAATTATAATAAGCAGAATGGACTGGCTATGCCTGACTGGGAGGACACAGAAGCTCTTTAAAGGGTGAGATGGCGTAGGCTCGGCCCAGCACTATGATCATGGCCCACAGGTAAGAACACGCTGGGAAAGGCCACACACAGGACTAGTAGCAGCCAGGGAATGTGGAAAAAATCTCAAATAATCCCTAGGTAACAAATTTAGGACAACTGGAGAGTTCATAAAGATAACAAGTACCGTAGACAGACAAGGAAAAGAAAAAGTGGGATAAAAGGAGCATATAATTAAAATGCAGGTTTTAATGTATTCATATATTCAAATTCAAGCTTATGTACACACTAGAGGCCTGTTTTCATCTCATTTCACTTGCACTAATCTCATTTAAACTAGGGGTTGATTTCTTTCTATCTAAGCCAAAATCAAGTGACACTTAGATATTTTGTCTTTTCAATCATATCCACATCATCCTGCTCTCCAAAACGTATCTTAGTTACAATAAAGATTGTGTGCCTAATCTGCTTTGGTCAGCAAAATCAGACAGGGTCTGGCTCTGTCACCCAGGCTAGACCAGCAAAATCCATGGGTGATTCATAAATTAATGACAAATTTAAATAATATATTCTTCCAGAATTTCAGTCTGTGAAAACATGAAACTTCCCTCAAGGTCATGCAATGTAATTCTCAAACTACACTCAAATTTATACAACTACAGAAGAGTAACTGAAGTTGAGACTCTACTGTACAAAGTATAAAAGTTACTAAAAACTTCCCCAAAGCAGGTTCACCAAGGACTTCTATCAACATTTTATTAGCCTTCCCACTTTATATATCAATTAAGTAATACAACTATATATTTTTTATTTAGCAATACAAGTCAAGAACACATGCTTCAGTTTCTCTTTAGCATTTTATTACAAAAGCTGCTGCGTCAGAGTTAGCAATGGAACTATGTTTCAGCTCATGTTTCACAAGCCCTATGAATTTTACACCATAATGTACATTATCACAATAAAATGCTACCTAAAGTTGTTTTAAATAATAAGTTCTCAATTAACAAAAACTCAAAGTCAGACTTAGATTACAGGACACTGACTTTTTTAAGGATAAGAACTATAAGCTTCATTCCTTTTGTTTTTTTCAGACAGGGTCTGGCTGTCACCCAAGCTAGAGTACAATGGCACAATCTCAGCTCACTACAACCTCCGCCTCCCTCAAGCCATCCTTCCACCTCAGCCTCCTGAGTAGCTTGGGACTACAGACATGCGCCACACCCAGCTAACTTTTGTTTTGAGGACACAGCGTTTTGCCATATTGCCCAGGTGGATCTCCAATTCCCAGACTCAAGTAATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAATGCCCAGCCCATCTTTTAAATATTTTTAATCCTAGGTATGGTTACTGCTTAACACTTTTCCTTTGGAGAGTATAGGAAAAGAGTAATACTGCACAGGCCTTAAAAAAACTACCTTAATCAATTTTTAAAAATTACTTCAAGTGTTATTTTGATAGCTTTTTAGAATTTATACTGTCTTGATTCACCTTGACAATAAAATTATCTATGCTTTTTTACTTCAAATAAGTTATTATCAAATAAGCAGAAGATATCTTATTTACATACCATAAAATTCTGCTGTAGGGGAGACCAAGAATACATTATGGGTACTGAAGCAACTGCATTCAGAGTCTTTAATGGGATGACTTGTGTTGGAAAATCCAAGTCACTGGTCACCGAACACTAAAACAGAAAAAAATAAAATTGACTCTTAAGAATAAAAGGACAACCTTAAGCTGTAGCCATCATATTGTAAAGAGATGCTGCCTACCCAAATATTTAATTTTGAAAAAAAAGTCCTTACCTAGGACAGTAAAGTGGTCATATAAACCAAATAGGATTCTCTCTTTTCTTTTACTTAGGGTGCAAAAATGCTTCAAATTTTCCAAATTTTCAAAACCTCCAACCCTTCCCATACTTACCAATATCAGTAAGAATCAAAAACTGTACTTATATGAGATTCAGCGATCTGATTAACTCCTCCATGCTTTTCCTATACATTTATTTCCTAGCTCATCCTTCATTTCTCTTACATTCCAACCACACAGAATAGTAATATGTATACCAAATAAGCCACTTAAATCTTACTTAATAAGAATAAGAAAACTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAATAAAATAAAATAAAATAAAAAGAATAAGAAAACTTGTTCAGTTAATCTTCCTTATCTTCCTTTTTTAAAATCTAAGTGTCAATTGCTGATATTATCAGATGATACATAAATATTAAGGGTAATGGGTTTGTGTTTCAATCACAACAAAGTAAATTTAAGTCTATTCTGCAAAACTGTAATCTCTGAATTAATAATATTAGCTGATTACTAAGTACTTTCTATGTGCTAGGCTATTTTAAACACATTACATGTCTTCTATTTAATCCTCATTACAACACTGTAAGATGGGTACTACTCTTAGCCCCCATTTTACAGGTGAGAAAACTATAGAAAAGAAAGGATAAGTAGCTTGCCCAAAGTTGCGCATGGTTCTCGGGCTAGAATGTAAACTCCAAAAGCCTGACTCTGGAGCCCCTGCTCTTCCCGCTCCTTATATTGCCATGATACCATATTGCTAAAATGTGTCAGTGCACATAGTCCCTTGAAACACCATATTTCATACAATCTATGATGACAGCGATTTCAAGGTACATCATTATCTTCTGTATCACTAAGAAAAAATGCTGCCAACTAAACAAAGGTATAATCCATTCTTATCACAGTGATTCTAAGATGCATGTTGTTTCCAATGTTAAAATGTGAAAAATTTTGCATCTTTGATTCTCTGAAATATGGTATAACTCTGTGCCTAAATAACCACAGCACTTTCCACCCTGTCTACGAATCCGAGATTCCTTAAAGAGTACTACTGCCCAGGTGTAAGTCCTCCAGAGCCTTCTCAAAAATATCCTAGACATACATTCATAATCCACAATCAATGAAAATAGAGCAAAAAAGAAGTGTAGTAAAATGAAACTGAAAAATCATTATATATATATATATACACACACACACACACACACACACACACACATATTAAATGTTTAAATTTTTTATTTAAAATGTCTTAAAAATAGCAGAACTAGTTGTGGTGAAATTCAGAGTAGAAATCTGGCATATGGGCCACACCTGACCCTCAGCATTGGGTTGCATCAGGCCAGTGGGATAATCTCTCAATCATCACAGTCACTGCAGCACAAAAATAATTCCTTCCTTAGTGGAAGTAAAGGTTTAAGGATGGAGTAGTTAGGAAGAACTGTGACAGTGATTCATCTATTAATTTGCTTTCCAAAAAGGCAAAGATAAAGGTAATAATACTAATAAGGCTCTTAACTCGAGTAAACAAGAAGGTGTGAACAGTTTACTAACACTCCAGAGCCCACAATCTTTCCCCTTCCTGCTATTTGGCCTCTGATACAATCCTTCATCCATCCATCCAATAATCCAATAAAAACA | benign | 129,893 |
Clinical significance of chromosome 7, position 148846601, gene EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCCTTTTCCCCCATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCAAAGTGTGCTCTTCTGGGCCCACATCAGATCATTAGAGCAGGCAAACTGACTAAATGCTTCTAAGGCTCAGTTTCCTTGCCTGGATTAAAAAAAAAAAAGTGTAATACTCCTTCCTTATCATGAAGATTAAAAGAGGTAATGTGTACAAAGTACCTAGCACAGTGACACAATTCATTATTGCTGTTGACTTTTATTATAAACCTAAGTTAGGCTTTTGATAGCATTCTGAGATTCATAATGGGTGGCAAAAATAAGTTTTCCATGTGAATCTACCTAATTTCTCCAAATTTCTAAGATTTATTCCTCCAGAGAGAAAATGAGGTTTTTCTTTCAATTCAACATTTCTAAAAGGTCACCAAATAAAAACTTTCAAAGCAATTACTTAAAAGCCCCATCCTTATTCCCTTTAAGAACGTTCTGATGGGCATCAAAAAGAATCCCTTTCCCCCATGCCACTGACCTCTAACATCTAGGCTCTGGCCTGTACCAGATGAGGAGGAAAGTGTCACTGTATAATCAATATTTATACAATTATAAGTCAGAGCTTTACAGAGGTGTCACCTAACAAAACGCATAAATGACTAAGAATCATTCCAAGTGTCACCATCAAGACCACCAGAATATCACTAAAATCTGCATTAGGATTATGTCTGTTGCTACTGGGATATCACTGACAAGTCTTTGAAGCTCATATGTCACACAATCTCCAGAAGGCCTCATACAATAGCAAATTGTTGCTTGTTACAATAATGTTATATTAAAAATGGCTACTCGTTGAAAAATTATCTTAAAACAAATTCCATTGTTTAGGTGCTTCCCATATTTAGACATTCAGATAAACAATCTACTACATAGTGCAATTTTAATTCCAACTCGCTCTTTCCCCTTTTGCTTCAACTCCCCTTTAAATATCCTATGCCATGTCTTTCTATACAACACAGGCACTTAAAAACAGAAATGCCTAAGCTATTTAGACTTTTGCCATTTTCTTCTCATCTTGCTGCAATCATGTTTTAACGGGATATTTAATTATAGATTCTACCATAGATTTACTGCCTTTCTTTGAAAATAGGAAACTCTTGGAGTAATTAAGAGCTAGCTCGTTCAGAAAGTACTATAGAAAAAGAAATTCCAATCTCTCAACAAGAAATTTAAAAATTCTTATAGAGAGGCTTAGCCTTTGAACAAAATATATAATAAAAAGCTTTCTTGTCCATGAATATTAAAACATTTCTTACCACATGGCTAATTCAAATTGGGGTTACAACAGTGAGTCAGAAAACCTTGCTCTAAATAGTGATCTGATGAGGACATTAAAGAGTATTTGATTTAAAAGCTTTTTTTTTTAAATCAACATTCTTATAAAATCTAGGCATCTACCTAGTTCAAAGTATATTCCAAACACTTAGAACTCTGTTATAGGAATAGCTAATAGTGTGATCTACAGCAGTCATTAACAGTTGCACATTAAAAAGAAATAGCAATAAAAAGATGGACACCCTGAGGTCAATGATTTCCTCCCAATAACCAAACAAATGTTCCAATAGCATAAACCAAAAGATGATGATAATTACTACAACATGTTATGTTAACCAACCTCCCTAGTCCCGCGCAATGAGCTCACAGAAGTCAGGATGTGCACAGGCTGTATCCTTCGCTGTTTCCATTCTTGGTTTAAGATTTCCGTTCTTTCCAAAATTTTCTGACGATTGGAACTAAACATACTCTTAAAAAAAAAAATGAAGGAGAGGAAAGGAGAAATTGTTCATTGTTAGAAAATGTATAACACCTGTAAAGCAGGTTAAAAATCTAGTGTATCCTCAAAAATATCAAGAACATTTTCTTAGGTGCATATAGATTTTACACTATAGTTTCCCACATTCAAATAATACAAAAACACCACATCTGTTATTTTATTGCAAGTGGTTAGAGAACAGGAAACGATTGCCATCCTTTCTTTGTTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTAATCACAATGACTTTAGAAACATAAAATCATGAAATGCATCCCTTTATATTTAGGGAGGCATTTCTGCAGCTGCATATGCAAATAAAAGTATACTAAACAAAGACTGATTAATGTGCATGGTATAATGTTAAGACAGATCAAGAACCTAAGCTTCCAAGTATTCACTCATCTTATTGTAAATACAAACTTGGCTAGAATTATTTTAAATAAAAACTTATTGAACTTAGGAGGGGAAAAAACCTATCCTTAATTGTATATTCATTTTCACAAAAGATAAAATTATACCTTTACTTCATCAGCTCGTCTGAACCTCTTGAGCTGTCTCAGTCGCATGTACTCTGATTTTACACGCTTCCGCCAACAAACTGGTCCCTTCTCAGATTTCTTCCCAGTCTGGCCCATGATTATTCTAAAAGCAATGGTTTCATATTAAAATCACTAATCTAACCAGCCTGAATATGATCACCTGTGTTTTAATCCGCAGCAAACTAACAATCAGTGAAGAAATGACACATATTACACTGTTGGCATTTACAGAAAGGTGCTCATTTGTGCTGCATGGTTAAATCCTTAAAACACTTCATTGAAAGTTTAAGTTAAACTTAAAATACACTTTTATTTACAAAAATTCTACACTAAATTGCGGCCATATTATAGGAACATGATCCCATTACAGGAATTAGGTATACTATACTATATCACAACCTAGTTTTCAACTCTATGAGATCCACATTTGTGGAGGGAAGAAAATATAAAGACAGATCCTGTTTTTCATCATTAGCTGTTACAGTAGCAAGGCATAATGGAATAATATAACTGAAAAAGGTAAATCCAAGAAGAAGTAAAATTTACAAACAGTACTAAAAGTAGAAAACATACAGTTCACCATATAATAAAATGTACAAAGGTACTCTCTCCCCACACACTTAATCATGCACCTCTCCTTAAACACTGTGATAAAGTCTGTATTTTTGCCTCTTGTGCCACCTTTATTAACATGAGGGGTTTCTGCTATCAAGCGAAAAGAGGAATGCAGGAAATGCAAAGTAAATTCTTCTGCCTTATCTTTAGTTGCAGGCTCTCAGAACCAATTATGTTTAAATGCGGGGACAGCTTATAGTTCACCAGATGTCTAATTCATACTGCAGAGTCCTCACCTTAAGTCTAAACAAGCGTCTTTTCCTAGAACATTTTCTCCTAAAGTATTAAAATCATCCTGTACCTTCAAATTATTAGCAGGACATTCTCTGTCAGGCTATGCAAAGCTTTACAGGCCACACTAACAATTTGTGCTTTATCTTAAGAACAATGAGAAGCCACTTTTAGTGTTTTAAGTAAAAGGGTGTGCGGTGAGGGAGTGAAAGAATAACTGCAACCAGGTTAGATGATGCTGCAGCACAGCATCCCGACAAGGGGTGACAGAGGCTTCTACACCACACTGGCGATGACAGGGAAAAGTACGTGAATTCAAGAGTTGCTTAGGCCAAAATTCCACCAAATGATGATTTAAATATGGAAAGTGAAGAAGAAGGTGACTTTCTGGCTTGAGCAAATAAATGAGTAGGGCAGGCTTCATCTATTTGTTTACATAAAAACTTCATGCACAGAGAAAACTGCCTAAGAAGAAGATTTAGAGTAAGAGTCCTGAGGCCAATGGGTAACTTTCTACAGAAATACTCAACCACCAACAGATGACAGAGAAGGCAGATGGCTGTTTACTCAGAGCTGTAACAAAGGGGCGAAGAAATTCAT | CTCCTTTTCCCCCATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCAAAGTGTGCTCTTCTGGGCCCACATCAGATCATTAGAGCAGGCAAACTGACTAAATGCTTCTAAGGCTCAGTTTCCTTGCCTGGATTAAAAAAAAAAAAGTGTAATACTCCTTCCTTATCATGAAGATTAAAAGAGGTAATGTGTACAAAGTACCTAGCACAGTGACACAATTCATTATTGCTGTTGACTTTTATTATAAACCTAAGTTAGGCTTTTGATAGCATTCTGAGATTCATAATGGGTGGCAAAAATAAGTTTTCCATGTGAATCTACCTAATTTCTCCAAATTTCTAAGATTTATTCCTCCAGAGAGAAAATGAGGTTTTTCTTTCAATTCAACATTTCTAAAAGGTCACCAAATAAAAACTTTCAAAGCAATTACTTAAAAGCCCCATCCTTATTCCCTTTAAGAACGTTCTGATGGGCATCAAAAAGAATCCCTTTCCCCCATGCCACTGACCTCTAACATCTAGGCTCTGGCCTGTACCAGATGAGGAGGAAAGTGTCACTGTATAATCAATATTTATACAATTATAAGTCAGAGCTTTACAGAGGTGTCACCTAACAAAACGCATAAATGACTAAGAATCATTCCAAGTGTCACCATCAAGACCACCAGAATATCACTAAAATCTGCATTAGGATTATGTCTGTTGCTACTGGGATATCACTGACAAGTCTTTGAAGCTCATATGTCACACAATCTCCAGAAGGCCTCATACAATAGCAAATTGTTGCTTGTTACAATAATGTTATATTAAAAATGGCTACTCGTTGAAAAATTATCTTAAAACAAATTCCATTGTTTAGGTGCTTCCCATATTTAGACATTCAGATAAACAATCTACTACATAGTGCAATTTTAATTCCAACTCGCTCTTTCCCCTTTTGCTTCAACTCCCCTTTAAATATCCTATGCCATGTCTTTCTATACAACACAGGCACTTAAAAACAGAAATGCCTAAGCTATTTAGACTTTTGCCATTTTCTTCTCATCTTGCTGCAATCATGTTTTAACGGGATATTTAATTATAGATTCTACCATAGATTTACTGCCTTTCTTTGAAAATAGGAAACTCTTGGAGTAATTAAGAGCTAGCTCGTTCAGAAAGTACTATAGAAAAAGAAATTCCAATCTCTCAACAAGAAATTTAAAAATTCTTATAGAGAGGCTTAGCCTTTGAACAAAATATATAATAAAAAGCTTTCTTGTCCATGAATATTAAAACATTTCTTACCACATGGCTAATTCAAATTGGGGTTACAACAGTGAGTCAGAAAACCTTGCTCTAAATAGTGATCTGATGAGGACATTAAAGAGTATTTGATTTAAAAGCTTTTTTTTTTAAATCAACATTCTTATAAAATCTAGGCATCTACCTAGTTCAAAGTATATTCCAAACACTTAGAACTCTGTTATAGGAATAGCTAATAGTGTGATCTACAGCAGTCATTAACAGTTGCACATTAAAAAGAAATAGCAATAAAAAGATGGACACCCTGAGGTCAATGATTTCCTCCCAATAACCAAACAAATGTTCCAATAGCATAAACCAAAAGATGATGATAATTACTACAACATGTTATGTTAACCAACCTCCCTAGTCCCGCGCAATGAGCTCACAGAAGTCAGGATGTGCACAGGCTGTATCCTTCGCTGTTTCCATTCTTGGTTTAAGATTTCCGTTCTTTCCAAAATTTTCTGACGATTGGAACTAAACATACTCTTAAAAAAAAAATGAAGGAGAGGAAAGGAGAAATTGTTCATTGTTAGAAAATGTATAACACCTGTAAAGCAGGTTAAAAATCTAGTGTATCCTCAAAAATATCAAGAACATTTTCTTAGGTGCATATAGATTTTACACTATAGTTTCCCACATTCAAATAATACAAAAACACCACATCTGTTATTTTATTGCAAGTGGTTAGAGAACAGGAAACGATTGCCATCCTTTCTTTGTTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTAATCACAATGACTTTAGAAACATAAAATCATGAAATGCATCCCTTTATATTTAGGGAGGCATTTCTGCAGCTGCATATGCAAATAAAAGTATACTAAACAAAGACTGATTAATGTGCATGGTATAATGTTAAGACAGATCAAGAACCTAAGCTTCCAAGTATTCACTCATCTTATTGTAAATACAAACTTGGCTAGAATTATTTTAAATAAAAACTTATTGAACTTAGGAGGGGAAAAAACCTATCCTTAATTGTATATTCATTTTCACAAAAGATAAAATTATACCTTTACTTCATCAGCTCGTCTGAACCTCTTGAGCTGTCTCAGTCGCATGTACTCTGATTTTACACGCTTCCGCCAACAAACTGGTCCCTTCTCAGATTTCTTCCCAGTCTGGCCCATGATTATTCTAAAAGCAATGGTTTCATATTAAAATCACTAATCTAACCAGCCTGAATATGATCACCTGTGTTTTAATCCGCAGCAAACTAACAATCAGTGAAGAAATGACACATATTACACTGTTGGCATTTACAGAAAGGTGCTCATTTGTGCTGCATGGTTAAATCCTTAAAACACTTCATTGAAAGTTTAAGTTAAACTTAAAATACACTTTTATTTACAAAAATTCTACACTAAATTGCGGCCATATTATAGGAACATGATCCCATTACAGGAATTAGGTATACTATACTATATCACAACCTAGTTTTCAACTCTATGAGATCCACATTTGTGGAGGGAAGAAAATATAAAGACAGATCCTGTTTTTCATCATTAGCTGTTACAGTAGCAAGGCATAATGGAATAATATAACTGAAAAAGGTAAATCCAAGAAGAAGTAAAATTTACAAACAGTACTAAAAGTAGAAAACATACAGTTCACCATATAATAAAATGTACAAAGGTACTCTCTCCCCACACACTTAATCATGCACCTCTCCTTAAACACTGTGATAAAGTCTGTATTTTTGCCTCTTGTGCCACCTTTATTAACATGAGGGGTTTCTGCTATCAAGCGAAAAGAGGAATGCAGGAAATGCAAAGTAAATTCTTCTGCCTTATCTTTAGTTGCAGGCTCTCAGAACCAATTATGTTTAAATGCGGGGACAGCTTATAGTTCACCAGATGTCTAATTCATACTGCAGAGTCCTCACCTTAAGTCTAAACAAGCGTCTTTTCCTAGAACATTTTCTCCTAAAGTATTAAAATCATCCTGTACCTTCAAATTATTAGCAGGACATTCTCTGTCAGGCTATGCAAAGCTTTACAGGCCACACTAACAATTTGTGCTTTATCTTAAGAACAATGAGAAGCCACTTTTAGTGTTTTAAGTAAAAGGGTGTGCGGTGAGGGAGTGAAAGAATAACTGCAACCAGGTTAGATGATGCTGCAGCACAGCATCCCGACAAGGGGTGACAGAGGCTTCTACACCACACTGGCGATGACAGGGAAAAGTACGTGAATTCAAGAGTTGCTTAGGCCAAAATTCCACCAAATGATGATTTAAATATGGAAAGTGAAGAAGAAGGTGACTTTCTGGCTTGAGCAAATAAATGAGTAGGGCAGGCTTCATCTATTTGTTTACATAAAAACTTCATGCACAGAGAAAACTGCCTAAGAAGAAGATTTAGAGTAAGAGTCCTGAGGCCAATGGGTAACTTTCTACAGAAATACTCAACCACCAACAGATGACAGAGAAGGCAGATGGCTGTTTACTCAGAGCTGTAACAAAGGGGCGAAGAAATTCATN | benign | 129,897 |
Gene mutation in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) at chromosome 7, position 148846601—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CTCCTTTTCCCCCATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCAAAGTGTGCTCTTCTGGGCCCACATCAGATCATTAGAGCAGGCAAACTGACTAAATGCTTCTAAGGCTCAGTTTCCTTGCCTGGATTAAAAAAAAAAAAGTGTAATACTCCTTCCTTATCATGAAGATTAAAAGAGGTAATGTGTACAAAGTACCTAGCACAGTGACACAATTCATTATTGCTGTTGACTTTTATTATAAACCTAAGTTAGGCTTTTGATAGCATTCTGAGATTCATAATGGGTGGCAAAAATAAGTTTTCCATGTGAATCTACCTAATTTCTCCAAATTTCTAAGATTTATTCCTCCAGAGAGAAAATGAGGTTTTTCTTTCAATTCAACATTTCTAAAAGGTCACCAAATAAAAACTTTCAAAGCAATTACTTAAAAGCCCCATCCTTATTCCCTTTAAGAACGTTCTGATGGGCATCAAAAAGAATCCCTTTCCCCCATGCCACTGACCTCTAACATCTAGGCTCTGGCCTGTACCAGATGAGGAGGAAAGTGTCACTGTATAATCAATATTTATACAATTATAAGTCAGAGCTTTACAGAGGTGTCACCTAACAAAACGCATAAATGACTAAGAATCATTCCAAGTGTCACCATCAAGACCACCAGAATATCACTAAAATCTGCATTAGGATTATGTCTGTTGCTACTGGGATATCACTGACAAGTCTTTGAAGCTCATATGTCACACAATCTCCAGAAGGCCTCATACAATAGCAAATTGTTGCTTGTTACAATAATGTTATATTAAAAATGGCTACTCGTTGAAAAATTATCTTAAAACAAATTCCATTGTTTAGGTGCTTCCCATATTTAGACATTCAGATAAACAATCTACTACATAGTGCAATTTTAATTCCAACTCGCTCTTTCCCCTTTTGCTTCAACTCCCCTTTAAATATCCTATGCCATGTCTTTCTATACAACACAGGCACTTAAAAACAGAAATGCCTAAGCTATTTAGACTTTTGCCATTTTCTTCTCATCTTGCTGCAATCATGTTTTAACGGGATATTTAATTATAGATTCTACCATAGATTTACTGCCTTTCTTTGAAAATAGGAAACTCTTGGAGTAATTAAGAGCTAGCTCGTTCAGAAAGTACTATAGAAAAAGAAATTCCAATCTCTCAACAAGAAATTTAAAAATTCTTATAGAGAGGCTTAGCCTTTGAACAAAATATATAATAAAAAGCTTTCTTGTCCATGAATATTAAAACATTTCTTACCACATGGCTAATTCAAATTGGGGTTACAACAGTGAGTCAGAAAACCTTGCTCTAAATAGTGATCTGATGAGGACATTAAAGAGTATTTGATTTAAAAGCTTTTTTTTTTAAATCAACATTCTTATAAAATCTAGGCATCTACCTAGTTCAAAGTATATTCCAAACACTTAGAACTCTGTTATAGGAATAGCTAATAGTGTGATCTACAGCAGTCATTAACAGTTGCACATTAAAAAGAAATAGCAATAAAAAGATGGACACCCTGAGGTCAATGATTTCCTCCCAATAACCAAACAAATGTTCCAATAGCATAAACCAAAAGATGATGATAATTACTACAACATGTTATGTTAACCAACCTCCCTAGTCCCGCGCAATGAGCTCACAGAAGTCAGGATGTGCACAGGCTGTATCCTTCGCTGTTTCCATTCTTGGTTTAAGATTTCCGTTCTTTCCAAAATTTTCTGACGATTGGAACTAAACATACTCTTAAAAAAAAAAATGAAGGAGAGGAAAGGAGAAATTGTTCATTGTTAGAAAATGTATAACACCTGTAAAGCAGGTTAAAAATCTAGTGTATCCTCAAAAATATCAAGAACATTTTCTTAGGTGCATATAGATTTTACACTATAGTTTCCCACATTCAAATAATACAAAAACACCACATCTGTTATTTTATTGCAAGTGGTTAGAGAACAGGAAACGATTGCCATCCTTTCTTTGTTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTAATCACAATGACTTTAGAAACATAAAATCATGAAATGCATCCCTTTATATTTAGGGAGGCATTTCTGCAGCTGCATATGCAAATAAAAGTATACTAAACAAAGACTGATTAATGTGCATGGTATAATGTTAAGACAGATCAAGAACCTAAGCTTCCAAGTATTCACTCATCTTATTGTAAATACAAACTTGGCTAGAATTATTTTAAATAAAAACTTATTGAACTTAGGAGGGGAAAAAACCTATCCTTAATTGTATATTCATTTTCACAAAAGATAAAATTATACCTTTACTTCATCAGCTCGTCTGAACCTCTTGAGCTGTCTCAGTCGCATGTACTCTGATTTTACACGCTTCCGCCAACAAACTGGTCCCTTCTCAGATTTCTTCCCAGTCTGGCCCATGATTATTCTAAAAGCAATGGTTTCATATTAAAATCACTAATCTAACCAGCCTGAATATGATCACCTGTGTTTTAATCCGCAGCAAACTAACAATCAGTGAAGAAATGACACATATTACACTGTTGGCATTTACAGAAAGGTGCTCATTTGTGCTGCATGGTTAAATCCTTAAAACACTTCATTGAAAGTTTAAGTTAAACTTAAAATACACTTTTATTTACAAAAATTCTACACTAAATTGCGGCCATATTATAGGAACATGATCCCATTACAGGAATTAGGTATACTATACTATATCACAACCTAGTTTTCAACTCTATGAGATCCACATTTGTGGAGGGAAGAAAATATAAAGACAGATCCTGTTTTTCATCATTAGCTGTTACAGTAGCAAGGCATAATGGAATAATATAACTGAAAAAGGTAAATCCAAGAAGAAGTAAAATTTACAAACAGTACTAAAAGTAGAAAACATACAGTTCACCATATAATAAAATGTACAAAGGTACTCTCTCCCCACACACTTAATCATGCACCTCTCCTTAAACACTGTGATAAAGTCTGTATTTTTGCCTCTTGTGCCACCTTTATTAACATGAGGGGTTTCTGCTATCAAGCGAAAAGAGGAATGCAGGAAATGCAAAGTAAATTCTTCTGCCTTATCTTTAGTTGCAGGCTCTCAGAACCAATTATGTTTAAATGCGGGGACAGCTTATAGTTCACCAGATGTCTAATTCATACTGCAGAGTCCTCACCTTAAGTCTAAACAAGCGTCTTTTCCTAGAACATTTTCTCCTAAAGTATTAAAATCATCCTGTACCTTCAAATTATTAGCAGGACATTCTCTGTCAGGCTATGCAAAGCTTTACAGGCCACACTAACAATTTGTGCTTTATCTTAAGAACAATGAGAAGCCACTTTTAGTGTTTTAAGTAAAAGGGTGTGCGGTGAGGGAGTGAAAGAATAACTGCAACCAGGTTAGATGATGCTGCAGCACAGCATCCCGACAAGGGGTGACAGAGGCTTCTACACCACACTGGCGATGACAGGGAAAAGTACGTGAATTCAAGAGTTGCTTAGGCCAAAATTCCACCAAATGATGATTTAAATATGGAAAGTGAAGAAGAAGGTGACTTTCTGGCTTGAGCAAATAAATGAGTAGGGCAGGCTTCATCTATTTGTTTACATAAAAACTTCATGCACAGAGAAAACTGCCTAAGAAGAAGATTTAGAGTAAGAGTCCTGAGGCCAATGGGTAACTTTCTACAGAAATACTCAACCACCAACAGATGACAGAGAAGGCAGATGGCTGTTTACTCAGAGCTGTAACAAAGGGGCGAAGAAATTCAT | CTCCTTTTCCCCCATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCAAAGTGTGCTCTTCTGGGCCCACATCAGATCATTAGAGCAGGCAAACTGACTAAATGCTTCTAAGGCTCAGTTTCCTTGCCTGGATTAAAAAAAAAAAAGTGTAATACTCCTTCCTTATCATGAAGATTAAAAGAGGTAATGTGTACAAAGTACCTAGCACAGTGACACAATTCATTATTGCTGTTGACTTTTATTATAAACCTAAGTTAGGCTTTTGATAGCATTCTGAGATTCATAATGGGTGGCAAAAATAAGTTTTCCATGTGAATCTACCTAATTTCTCCAAATTTCTAAGATTTATTCCTCCAGAGAGAAAATGAGGTTTTTCTTTCAATTCAACATTTCTAAAAGGTCACCAAATAAAAACTTTCAAAGCAATTACTTAAAAGCCCCATCCTTATTCCCTTTAAGAACGTTCTGATGGGCATCAAAAAGAATCCCTTTCCCCCATGCCACTGACCTCTAACATCTAGGCTCTGGCCTGTACCAGATGAGGAGGAAAGTGTCACTGTATAATCAATATTTATACAATTATAAGTCAGAGCTTTACAGAGGTGTCACCTAACAAAACGCATAAATGACTAAGAATCATTCCAAGTGTCACCATCAAGACCACCAGAATATCACTAAAATCTGCATTAGGATTATGTCTGTTGCTACTGGGATATCACTGACAAGTCTTTGAAGCTCATATGTCACACAATCTCCAGAAGGCCTCATACAATAGCAAATTGTTGCTTGTTACAATAATGTTATATTAAAAATGGCTACTCGTTGAAAAATTATCTTAAAACAAATTCCATTGTTTAGGTGCTTCCCATATTTAGACATTCAGATAAACAATCTACTACATAGTGCAATTTTAATTCCAACTCGCTCTTTCCCCTTTTGCTTCAACTCCCCTTTAAATATCCTATGCCATGTCTTTCTATACAACACAGGCACTTAAAAACAGAAATGCCTAAGCTATTTAGACTTTTGCCATTTTCTTCTCATCTTGCTGCAATCATGTTTTAACGGGATATTTAATTATAGATTCTACCATAGATTTACTGCCTTTCTTTGAAAATAGGAAACTCTTGGAGTAATTAAGAGCTAGCTCGTTCAGAAAGTACTATAGAAAAAGAAATTCCAATCTCTCAACAAGAAATTTAAAAATTCTTATAGAGAGGCTTAGCCTTTGAACAAAATATATAATAAAAAGCTTTCTTGTCCATGAATATTAAAACATTTCTTACCACATGGCTAATTCAAATTGGGGTTACAACAGTGAGTCAGAAAACCTTGCTCTAAATAGTGATCTGATGAGGACATTAAAGAGTATTTGATTTAAAAGCTTTTTTTTTTAAATCAACATTCTTATAAAATCTAGGCATCTACCTAGTTCAAAGTATATTCCAAACACTTAGAACTCTGTTATAGGAATAGCTAATAGTGTGATCTACAGCAGTCATTAACAGTTGCACATTAAAAAGAAATAGCAATAAAAAGATGGACACCCTGAGGTCAATGATTTCCTCCCAATAACCAAACAAATGTTCCAATAGCATAAACCAAAAGATGATGATAATTACTACAACATGTTATGTTAACCAACCTCCCTAGTCCCGCGCAATGAGCTCACAGAAGTCAGGATGTGCACAGGCTGTATCCTTCGCTGTTTCCATTCTTGGTTTAAGATTTCCGTTCTTTCCAAAATTTTCTGACGATTGGAACTAAACATACTCTTAAAAAAAAATGAAGGAGAGGAAAGGAGAAATTGTTCATTGTTAGAAAATGTATAACACCTGTAAAGCAGGTTAAAAATCTAGTGTATCCTCAAAAATATCAAGAACATTTTCTTAGGTGCATATAGATTTTACACTATAGTTTCCCACATTCAAATAATACAAAAACACCACATCTGTTATTTTATTGCAAGTGGTTAGAGAACAGGAAACGATTGCCATCCTTTCTTTGTTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTAATCACAATGACTTTAGAAACATAAAATCATGAAATGCATCCCTTTATATTTAGGGAGGCATTTCTGCAGCTGCATATGCAAATAAAAGTATACTAAACAAAGACTGATTAATGTGCATGGTATAATGTTAAGACAGATCAAGAACCTAAGCTTCCAAGTATTCACTCATCTTATTGTAAATACAAACTTGGCTAGAATTATTTTAAATAAAAACTTATTGAACTTAGGAGGGGAAAAAACCTATCCTTAATTGTATATTCATTTTCACAAAAGATAAAATTATACCTTTACTTCATCAGCTCGTCTGAACCTCTTGAGCTGTCTCAGTCGCATGTACTCTGATTTTACACGCTTCCGCCAACAAACTGGTCCCTTCTCAGATTTCTTCCCAGTCTGGCCCATGATTATTCTAAAAGCAATGGTTTCATATTAAAATCACTAATCTAACCAGCCTGAATATGATCACCTGTGTTTTAATCCGCAGCAAACTAACAATCAGTGAAGAAATGACACATATTACACTGTTGGCATTTACAGAAAGGTGCTCATTTGTGCTGCATGGTTAAATCCTTAAAACACTTCATTGAAAGTTTAAGTTAAACTTAAAATACACTTTTATTTACAAAAATTCTACACTAAATTGCGGCCATATTATAGGAACATGATCCCATTACAGGAATTAGGTATACTATACTATATCACAACCTAGTTTTCAACTCTATGAGATCCACATTTGTGGAGGGAAGAAAATATAAAGACAGATCCTGTTTTTCATCATTAGCTGTTACAGTAGCAAGGCATAATGGAATAATATAACTGAAAAAGGTAAATCCAAGAAGAAGTAAAATTTACAAACAGTACTAAAAGTAGAAAACATACAGTTCACCATATAATAAAATGTACAAAGGTACTCTCTCCCCACACACTTAATCATGCACCTCTCCTTAAACACTGTGATAAAGTCTGTATTTTTGCCTCTTGTGCCACCTTTATTAACATGAGGGGTTTCTGCTATCAAGCGAAAAGAGGAATGCAGGAAATGCAAAGTAAATTCTTCTGCCTTATCTTTAGTTGCAGGCTCTCAGAACCAATTATGTTTAAATGCGGGGACAGCTTATAGTTCACCAGATGTCTAATTCATACTGCAGAGTCCTCACCTTAAGTCTAAACAAGCGTCTTTTCCTAGAACATTTTCTCCTAAAGTATTAAAATCATCCTGTACCTTCAAATTATTAGCAGGACATTCTCTGTCAGGCTATGCAAAGCTTTACAGGCCACACTAACAATTTGTGCTTTATCTTAAGAACAATGAGAAGCCACTTTTAGTGTTTTAAGTAAAAGGGTGTGCGGTGAGGGAGTGAAAGAATAACTGCAACCAGGTTAGATGATGCTGCAGCACAGCATCCCGACAAGGGGTGACAGAGGCTTCTACACCACACTGGCGATGACAGGGAAAAGTACGTGAATTCAAGAGTTGCTTAGGCCAAAATTCCACCAAATGATGATTTAAATATGGAAAGTGAAGAAGAAGGTGACTTTCTGGCTTGAGCAAATAAATGAGTAGGGCAGGCTTCATCTATTTGTTTACATAAAAACTTCATGCACAGAGAAAACTGCCTAAGAAGAAGATTTAGAGTAAGAGTCCTGAGGCCAATGGGTAACTTTCTACAGAAATACTCAACCACCAACAGATGACAGAGAAGGCAGATGGCTGTTTACTCAGAGCTGTAACAAAGGGGCGAAGAAATTCATNN | benign | 129,898 |
Variant in EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit), chromosome 7, position 148846613—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCAAAGTGTGCTCTTCTGGGCCCACATCAGATCATTAGAGCAGGCAAACTGACTAAATGCTTCTAAGGCTCAGTTTCCTTGCCTGGATTAAAAAAAAAAAAGTGTAATACTCCTTCCTTATCATGAAGATTAAAAGAGGTAATGTGTACAAAGTACCTAGCACAGTGACACAATTCATTATTGCTGTTGACTTTTATTATAAACCTAAGTTAGGCTTTTGATAGCATTCTGAGATTCATAATGGGTGGCAAAAATAAGTTTTCCATGTGAATCTACCTAATTTCTCCAAATTTCTAAGATTTATTCCTCCAGAGAGAAAATGAGGTTTTTCTTTCAATTCAACATTTCTAAAAGGTCACCAAATAAAAACTTTCAAAGCAATTACTTAAAAGCCCCATCCTTATTCCCTTTAAGAACGTTCTGATGGGCATCAAAAAGAATCCCTTTCCCCCATGCCACTGACCTCTAACATCTAGGCTCTGGCCTGTACCAGATGAGGAGGAAAGTGTCACTGTATAATCAATATTTATACAATTATAAGTCAGAGCTTTACAGAGGTGTCACCTAACAAAACGCATAAATGACTAAGAATCATTCCAAGTGTCACCATCAAGACCACCAGAATATCACTAAAATCTGCATTAGGATTATGTCTGTTGCTACTGGGATATCACTGACAAGTCTTTGAAGCTCATATGTCACACAATCTCCAGAAGGCCTCATACAATAGCAAATTGTTGCTTGTTACAATAATGTTATATTAAAAATGGCTACTCGTTGAAAAATTATCTTAAAACAAATTCCATTGTTTAGGTGCTTCCCATATTTAGACATTCAGATAAACAATCTACTACATAGTGCAATTTTAATTCCAACTCGCTCTTTCCCCTTTTGCTTCAACTCCCCTTTAAATATCCTATGCCATGTCTTTCTATACAACACAGGCACTTAAAAACAGAAATGCCTAAGCTATTTAGACTTTTGCCATTTTCTTCTCATCTTGCTGCAATCATGTTTTAACGGGATATTTAATTATAGATTCTACCATAGATTTACTGCCTTTCTTTGAAAATAGGAAACTCTTGGAGTAATTAAGAGCTAGCTCGTTCAGAAAGTACTATAGAAAAAGAAATTCCAATCTCTCAACAAGAAATTTAAAAATTCTTATAGAGAGGCTTAGCCTTTGAACAAAATATATAATAAAAAGCTTTCTTGTCCATGAATATTAAAACATTTCTTACCACATGGCTAATTCAAATTGGGGTTACAACAGTGAGTCAGAAAACCTTGCTCTAAATAGTGATCTGATGAGGACATTAAAGAGTATTTGATTTAAAAGCTTTTTTTTTTAAATCAACATTCTTATAAAATCTAGGCATCTACCTAGTTCAAAGTATATTCCAAACACTTAGAACTCTGTTATAGGAATAGCTAATAGTGTGATCTACAGCAGTCATTAACAGTTGCACATTAAAAAGAAATAGCAATAAAAAGATGGACACCCTGAGGTCAATGATTTCCTCCCAATAACCAAACAAATGTTCCAATAGCATAAACCAAAAGATGATGATAATTACTACAACATGTTATGTTAACCAACCTCCCTAGTCCCGCGCAATGAGCTCACAGAAGTCAGGATGTGCACAGGCTGTATCCTTCGCTGTTTCCATTCTTGGTTTAAGATTTCCGTTCTTTCCAAAATTTTCTGACGATTGGAACTAAACATACTCTTAAAAAAAAAAATGAAGGAGAGGAAAGGAGAAATTGTTCATTGTTAGAAAATGTATAACACCTGTAAAGCAGGTTAAAAATCTAGTGTATCCTCAAAAATATCAAGAACATTTTCTTAGGTGCATATAGATTTTACACTATAGTTTCCCACATTCAAATAATACAAAAACACCACATCTGTTATTTTATTGCAAGTGGTTAGAGAACAGGAAACGATTGCCATCCTTTCTTTGTTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTAATCACAATGACTTTAGAAACATAAAATCATGAAATGCATCCCTTTATATTTAGGGAGGCATTTCTGCAGCTGCATATGCAAATAAAAGTATACTAAACAAAGACTGATTAATGTGCATGGTATAATGTTAAGACAGATCAAGAACCTAAGCTTCCAAGTATTCACTCATCTTATTGTAAATACAAACTTGGCTAGAATTATTTTAAATAAAAACTTATTGAACTTAGGAGGGGAAAAAACCTATCCTTAATTGTATATTCATTTTCACAAAAGATAAAATTATACCTTTACTTCATCAGCTCGTCTGAACCTCTTGAGCTGTCTCAGTCGCATGTACTCTGATTTTACACGCTTCCGCCAACAAACTGGTCCCTTCTCAGATTTCTTCCCAGTCTGGCCCATGATTATTCTAAAAGCAATGGTTTCATATTAAAATCACTAATCTAACCAGCCTGAATATGATCACCTGTGTTTTAATCCGCAGCAAACTAACAATCAGTGAAGAAATGACACATATTACACTGTTGGCATTTACAGAAAGGTGCTCATTTGTGCTGCATGGTTAAATCCTTAAAACACTTCATTGAAAGTTTAAGTTAAACTTAAAATACACTTTTATTTACAAAAATTCTACACTAAATTGCGGCCATATTATAGGAACATGATCCCATTACAGGAATTAGGTATACTATACTATATCACAACCTAGTTTTCAACTCTATGAGATCCACATTTGTGGAGGGAAGAAAATATAAAGACAGATCCTGTTTTTCATCATTAGCTGTTACAGTAGCAAGGCATAATGGAATAATATAACTGAAAAAGGTAAATCCAAGAAGAAGTAAAATTTACAAACAGTACTAAAAGTAGAAAACATACAGTTCACCATATAATAAAATGTACAAAGGTACTCTCTCCCCACACACTTAATCATGCACCTCTCCTTAAACACTGTGATAAAGTCTGTATTTTTGCCTCTTGTGCCACCTTTATTAACATGAGGGGTTTCTGCTATCAAGCGAAAAGAGGAATGCAGGAAATGCAAAGTAAATTCTTCTGCCTTATCTTTAGTTGCAGGCTCTCAGAACCAATTATGTTTAAATGCGGGGACAGCTTATAGTTCACCAGATGTCTAATTCATACTGCAGAGTCCTCACCTTAAGTCTAAACAAGCGTCTTTTCCTAGAACATTTTCTCCTAAAGTATTAAAATCATCCTGTACCTTCAAATTATTAGCAGGACATTCTCTGTCAGGCTATGCAAAGCTTTACAGGCCACACTAACAATTTGTGCTTTATCTTAAGAACAATGAGAAGCCACTTTTAGTGTTTTAAGTAAAAGGGTGTGCGGTGAGGGAGTGAAAGAATAACTGCAACCAGGTTAGATGATGCTGCAGCACAGCATCCCGACAAGGGGTGACAGAGGCTTCTACACCACACTGGCGATGACAGGGAAAAGTACGTGAATTCAAGAGTTGCTTAGGCCAAAATTCCACCAAATGATGATTTAAATATGGAAAGTGAAGAAGAAGGTGACTTTCTGGCTTGAGCAAATAAATGAGTAGGGCAGGCTTCATCTATTTGTTTACATAAAAACTTCATGCACAGAGAAAACTGCCTAAGAAGAAGATTTAGAGTAAGAGTCCTGAGGCCAATGGGTAACTTTCTACAGAAATACTCAACCACCAACAGATGACAGAGAAGGCAGATGGCTGTTTACTCAGAGCTGTAACAAAGGGGCGAAGAAATTCATTTTCTCAAGCAT | CATACTCTGTGAAAATGTTTATTCTCAATCTGCGTGTGTGTGTGGTACTGTGGAAGTACTAACTTTAGAAAACAATTTTGTTTTATTAAAATGCTGATTTCTTCTCCCAATTTTTCACATAAACTCACGAACATTAGGTATCTTTATATTCAACGATTTGTCTCCATTTGACAAAATTAAAAGAAAATTTCAATTAGTAAATATCCACTTGAACAAACAATACTCTTAAATTTAATGCCAAATATACTATGAGCAATTCAAGTTGTATGTCAATAATGTACTTCACTAATACTTCATGTGTCTGAGCAAAGTGTGCTCTTCTGGGCCCACATCAGATCATTAGAGCAGGCAAACTGACTAAATGCTTCTAAGGCTCAGTTTCCTTGCCTGGATTAAAAAAAAAAAAGTGTAATACTCCTTCCTTATCATGAAGATTAAAAGAGGTAATGTGTACAAAGTACCTAGCACAGTGACACAATTCATTATTGCTGTTGACTTTTATTATAAACCTAAGTTAGGCTTTTGATAGCATTCTGAGATTCATAATGGGTGGCAAAAATAAGTTTTCCATGTGAATCTACCTAATTTCTCCAAATTTCTAAGATTTATTCCTCCAGAGAGAAAATGAGGTTTTTCTTTCAATTCAACATTTCTAAAAGGTCACCAAATAAAAACTTTCAAAGCAATTACTTAAAAGCCCCATCCTTATTCCCTTTAAGAACGTTCTGATGGGCATCAAAAAGAATCCCTTTCCCCCATGCCACTGACCTCTAACATCTAGGCTCTGGCCTGTACCAGATGAGGAGGAAAGTGTCACTGTATAATCAATATTTATACAATTATAAGTCAGAGCTTTACAGAGGTGTCACCTAACAAAACGCATAAATGACTAAGAATCATTCCAAGTGTCACCATCAAGACCACCAGAATATCACTAAAATCTGCATTAGGATTATGTCTGTTGCTACTGGGATATCACTGACAAGTCTTTGAAGCTCATATGTCACACAATCTCCAGAAGGCCTCATACAATAGCAAATTGTTGCTTGTTACAATAATGTTATATTAAAAATGGCTACTCGTTGAAAAATTATCTTAAAACAAATTCCATTGTTTAGGTGCTTCCCATATTTAGACATTCAGATAAACAATCTACTACATAGTGCAATTTTAATTCCAACTCGCTCTTTCCCCTTTTGCTTCAACTCCCCTTTAAATATCCTATGCCATGTCTTTCTATACAACACAGGCACTTAAAAACAGAAATGCCTAAGCTATTTAGACTTTTGCCATTTTCTTCTCATCTTGCTGCAATCATGTTTTAACGGGATATTTAATTATAGATTCTACCATAGATTTACTGCCTTTCTTTGAAAATAGGAAACTCTTGGAGTAATTAAGAGCTAGCTCGTTCAGAAAGTACTATAGAAAAAGAAATTCCAATCTCTCAACAAGAAATTTAAAAATTCTTATAGAGAGGCTTAGCCTTTGAACAAAATATATAATAAAAAGCTTTCTTGTCCATGAATATTAAAACATTTCTTACCACATGGCTAATTCAAATTGGGGTTACAACAGTGAGTCAGAAAACCTTGCTCTAAATAGTGATCTGATGAGGACATTAAAGAGTATTTGATTTAAAAGCTTTTTTTTTTAAATCAACATTCTTATAAAATCTAGGCATCTACCTAGTTCAAAGTATATTCCAAACACTTAGAACTCTGTTATAGGAATAGCTAATAGTGTGATCTACAGCAGTCATTAACAGTTGCACATTAAAAAGAAATAGCAATAAAAAGATGGACACCCTGAGGTCAATGATTTCCTCCCAATAACCAAACAAATGTTCCAATAGCATAAACCAAAAGATGATGATAATTACTACAACATGTTATGTTAACCAACCTCCCTAGTCCCGCGCAATGAGCTCACAGAAGTCAGGATGTGCACAGGCTGTATCCTTCGCTGTTTCCATTCTTGGTTTAAGATTTCCGTTCTTTCCAAAATTTTCTGACGATTGGAACTAAACATACTCTTAAAAAAAAAAATGGAGAGGAAAGGAGAAATTGTTCATTGTTAGAAAATGTATAACACCTGTAAAGCAGGTTAAAAATCTAGTGTATCCTCAAAAATATCAAGAACATTTTCTTAGGTGCATATAGATTTTACACTATAGTTTCCCACATTCAAATAATACAAAAACACCACATCTGTTATTTTATTGCAAGTGGTTAGAGAACAGGAAACGATTGCCATCCTTTCTTTGTTGACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTAATCACAATGACTTTAGAAACATAAAATCATGAAATGCATCCCTTTATATTTAGGGAGGCATTTCTGCAGCTGCATATGCAAATAAAAGTATACTAAACAAAGACTGATTAATGTGCATGGTATAATGTTAAGACAGATCAAGAACCTAAGCTTCCAAGTATTCACTCATCTTATTGTAAATACAAACTTGGCTAGAATTATTTTAAATAAAAACTTATTGAACTTAGGAGGGGAAAAAACCTATCCTTAATTGTATATTCATTTTCACAAAAGATAAAATTATACCTTTACTTCATCAGCTCGTCTGAACCTCTTGAGCTGTCTCAGTCGCATGTACTCTGATTTTACACGCTTCCGCCAACAAACTGGTCCCTTCTCAGATTTCTTCCCAGTCTGGCCCATGATTATTCTAAAAGCAATGGTTTCATATTAAAATCACTAATCTAACCAGCCTGAATATGATCACCTGTGTTTTAATCCGCAGCAAACTAACAATCAGTGAAGAAATGACACATATTACACTGTTGGCATTTACAGAAAGGTGCTCATTTGTGCTGCATGGTTAAATCCTTAAAACACTTCATTGAAAGTTTAAGTTAAACTTAAAATACACTTTTATTTACAAAAATTCTACACTAAATTGCGGCCATATTATAGGAACATGATCCCATTACAGGAATTAGGTATACTATACTATATCACAACCTAGTTTTCAACTCTATGAGATCCACATTTGTGGAGGGAAGAAAATATAAAGACAGATCCTGTTTTTCATCATTAGCTGTTACAGTAGCAAGGCATAATGGAATAATATAACTGAAAAAGGTAAATCCAAGAAGAAGTAAAATTTACAAACAGTACTAAAAGTAGAAAACATACAGTTCACCATATAATAAAATGTACAAAGGTACTCTCTCCCCACACACTTAATCATGCACCTCTCCTTAAACACTGTGATAAAGTCTGTATTTTTGCCTCTTGTGCCACCTTTATTAACATGAGGGGTTTCTGCTATCAAGCGAAAAGAGGAATGCAGGAAATGCAAAGTAAATTCTTCTGCCTTATCTTTAGTTGCAGGCTCTCAGAACCAATTATGTTTAAATGCGGGGACAGCTTATAGTTCACCAGATGTCTAATTCATACTGCAGAGTCCTCACCTTAAGTCTAAACAAGCGTCTTTTCCTAGAACATTTTCTCCTAAAGTATTAAAATCATCCTGTACCTTCAAATTATTAGCAGGACATTCTCTGTCAGGCTATGCAAAGCTTTACAGGCCACACTAACAATTTGTGCTTTATCTTAAGAACAATGAGAAGCCACTTTTAGTGTTTTAAGTAAAAGGGTGTGCGGTGAGGGAGTGAAAGAATAACTGCAACCAGGTTAGATGATGCTGCAGCACAGCATCCCGACAAGGGGTGACAGAGGCTTCTACACCACACTGGCGATGACAGGGAAAAGTACGTGAATTCAAGAGTTGCTTAGGCCAAAATTCCACCAAATGATGATTTAAATATGGAAAGTGAAGAAGAAGGTGACTTTCTGGCTTGAGCAAATAAATGAGTAGGGCAGGCTTCATCTATTTGTTTACATAAAAACTTCATGCACAGAGAAAACTGCCTAAGAAGAAGATTTAGAGTAAGAGTCCTGAGGCCAATGGGTAACTTTCTACAGAAATACTCAACCACCAACAGATGACAGAGAAGGCAGATGGCTGTTTACTCAGAGCTGTAACAAAGGGGCGAAGAAATTCATTTTCTCAAGCATNNN | benign | 129,899 |
Mutation found at chromosome 7 position 148884323, gene EZH2: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TTTATCATATAGGACAGTGCAACCAGAAGAACGCCTATGTTTTTCTAACTTGTTTTCTTGGAATATATTCACTTTCCACAAAAACGAGAATTTAAGATGCAGTGTTCCTGTTTCCGGGAAACCTTAAATATTACATCACCCAACACACCTCCGAAAAGAGAGAACAAGACGCTTTATATCTATGACTAGAATCCTACCTATTCCTAACTTTAGAGACCATGAATAGAAAATTAAAATATATCTTAAATACTTGTTTTCCTGCAAATAAAATTACAAATAAACAAGTTAGGATTACACACTTGTACAGTATTCCTAAACATGAATTAGTTGCTAATGCTTATGAAGAGTAATAGAAAATAAACTCCAAAACCCCTAAAAGTATAAACTACATTCAATTGTGACAGCATTCGTGTTTTTCAAAGGTTTATTAAATGCTGTTTTATGATGACATCAAAACGCCACAAAATTAAACTAATAATAACTTGCTTGAACCCTAAAAAGCAAGCCTTTAAGTAAATAGCAAAGACACATTTTTATTTCCAAATGAATTTAAATGTTACAGATCCTGTGTGATAAAGGAAGTTTAACTGTGGACAGCACACGTTAAATTTCTTAGGCAACAAACATTTCTCCATGCAGTCTTTTCTGAATCACCAAAGCTATTGTTCACAGAAAACGAGACCAATTAATAAGAAACTGCTAACCGTATAATCTAAACACACATTTGTCATAGCCATTCTATTTTGATCACCTACTTCTACCACCTCATCCTCATTCAACCCGTCGGGATTTGGGGAATAATCTGGCTGAATGACAGTTGATTTCGTTAGCACCTGTCGCCATTCTCAGATGTATCACACAAGTTGGCCAAAACAGCTTGTAATGTTTAAGGATTACGATTCTTTAGAAAGTGGCAACTCACTAGGCGTTCACCAAGTTTTCCAAAAGATCGTGCTTCTCGATTCCTCCCGCTTTCAAAAAGTAACCCTGTGGCACAGATTTTTGGGGGGAACGGAAGGGGATGTACACAATGAAGTGGGAATTCAACAGGACGCCCTCCAGAAACACAATCAATAGAGAGCAGAGCAGCTCGACTCTTCCCTCAAACTTAGCATAAAGCCAGACCAGGCGGCGAGGGCAGCCCGCGACCGCCGGAGCTCAGGGGGATTTCGGGGTGCGTCGTGGGGAAACGTCAGAGGCGAAGCTACTCCGAGTTCCCCGCCGCGAACGTCGTCCCGCGAGCGCCGCGGCCCCAGCCCGGGGTCGGCGCGCCCGGGACCGGGGGCGTGCGCGAGGCGAGGGCCGAGCCCTGCCCACCCCGGCAGCGGCCCGCGCCTCCCCACGCCCCTCTCCCGCCCGCCGGCGGGCCCGGGTGTCATGCCCCTTCCCCTCGCGCCGAGCCCTCCGGAGACACAGTCCGTCCTTTGTCTGAGTGCGGACTCGGCGGCTGGGTCCCACCAACTTGTGTCTGTCCCGTCCCACCCGGGCGCTCCCGCCGCGGCCGCGCCACACAAAGGAGACTTGAGGCTCGAGCTGCCACCCTGGACCGGGCACCGGAACGCCCCGACCCCGGCCCCGGCGCCCCGGCCAGGACAAGCACCGGGAAAGGAGCCCCCCACACGCCCCCCGCCCCGCAGCTCCAGGGGTGTGCGCTGCCTCACTCGCAGGGTCCCGCGGGCCAGCCCGAAGCTCACAGCTCCTTCCGGGGAGGGGGGCTCTCCCCTCACCCTCCACCCCCCGCACGCCTACAAACGCGGCGCCCCGGTGAGCCCCGCTCGGCGATACCCGGGACCGGCACAGCAGTGGCGGGGAGGTCCTGGCGCCGCCGCCGCCGCCCGGTTCGCACTCCCGGAGCCCCGCCGGCCGGGCCGCCCGCAGCGGCGCGTTACCTTCGTCCCGCGCGCCGACTCGCGTTGTTCCCGCGCGTCGCCCCCGCGCGCCGCCGCCGCCGCCGCCGGGGCTCCACTGCCTTCTGAGTCCCACCGGGTGTCGGACGCGACCGGACCGAGCGCCAAACGCGGCAGCCCAATCGCCATCGCTTTTATTTGGCCCCCCCAGCCCAATCAAGCGCCGCCCCGATTGGCGGGACGCGAGGCGGGCGCCCGTCCAATCACAGGGCCCGCCGGGCTCGGAGGCGCCGAGCCAGCCCCACGCAGAGTGCGCTCAGGGCTCGTGGGCGGGCGGGCACTGGCAGCGCGTGCGCGCGCGGGCGGCGGCGGGGTTCGCTGTAAGGGACGCCACTGGCCGTGTGGAAGCGCCGCCGCCGTCTCTTTGTTCTTTCGCTGAACACACGGCGCCTCTCAGGAAGGCGGTGTGCAGGCACGCGGGGACCGGGAGACATCGCGGGGGCCCGGAGCCCGCCGCGGACGGGAGGCGGGGAGGATAGGTGGCGGGAACCGGCCGAAGGGCGGGACGAAGCGCCGGCGGCTCTTGGCGGGAACCGGCGCCGCAGAGTTCCCGGGCGGGGGAGGGGCGGGGCGGGTGCTGGAAGCCAAGTTTGAACCAGTTCAAAACTCGGGGGTGGTAACGGTTTTAACCGCCGCGCTCGTTTCCCCGCGCGCGGAGCCGAGGCCCGGGCTGGCCGCTCCTAGTGGTGCCCGGGGAGGGGAGGGCGCGGGCCCCGGAGGTCGGCTCAGCTGTGGCGCCGCGTTTGCCGGGAGACGCTCGCCCGGCCCGCGCGCTGCCGCCGGACCCGTTACTACTTTTTTTTTTTTCTCCTGAGACGGAGTTTCGCTCTGGTTGTCCAGGCTGGAGTGCAATGGCGCGATCTCGACTCACCGCAACCTCCGCCTTCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTCTATTTTTAGTAGAGACGGGTCTTGGTCAGGCTGGTCTCGAACTCCCGACTTCTGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCGCCGACCCGGGCCCTGTTTGATTATGTCTGCTGCTGCCTTGGCCGTTTTTTCCCCCACCGCTGGACTTTGGCTGGCCGAGCTTGCAGTGCTTATCGCCCTAGAAACCTGTGAAAGGGCGACATTGCTGCCATTTCAGACCCTTCCACTGTTCGTAGTTCTAAGCACGTGTCAGTGTTAAAAATCCTTTATCAAGATGAGCACTGTTCACTTGCCGCCTCTGCAAAGTGTGAGGATATTTGCAAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGGTCAGGAGATCGAGACCATCCTGGCTAATAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAATTGATCTTGGTTATGGGGGGTCAAGCTACCTCAACCCAGAGGAATTAGAGGGATTCTGCTTAGGATACAGTCTCTCCTATTGCTTCATGTGGCAATGCAGTTAAGAGTATTCCGAATTTATTTTTACTAGGATGTATCTATGGGGTAAAATACCATTGTCATGTAAACTGAGATTCCATATTGAGAGTTCATACTGGAAACTGAAAAAAGGTCACCTATGAACTGTTGGGGTAAAAATCTGAAGAAATATTTTTAATGAATTTAATAACTAGCCAGAATTTTTTTTTTTTTTTTTTTTTTAAGAAACGGAGTCTCACACTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAAGCCCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGACCACAGGTGCCTGCCACCACACCCGACTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGC | TTTATCATATAGGACAGTGCAACCAGAAGAACGCCTATGTTTTTCTAACTTGTTTTCTTGGAATATATTCACTTTCCACAAAAACGAGAATTTAAGATGCAGTGTTCCTGTTTCCGGGAAACCTTAAATATTACATCACCCAACACACCTCCGAAAAGAGAGAACAAGACGCTTTATATCTATGACTAGAATCCTACCTATTCCTAACTTTAGAGACCATGAATAGAAAATTAAAATATATCTTAAATACTTGTTTTCCTGCAAATAAAATTACAAATAAACAAGTTAGGATTACACACTTGTACAGTATTCCTAAACATGAATTAGTTGCTAATGCTTATGAAGAGTAATAGAAAATAAACTCCAAAACCCCTAAAAGTATAAACTACATTCAATTGTGACAGCATTCGTGTTTTTCAAAGGTTTATTAAATGCTGTTTTATGATGACATCAAAACGCCACAAAATTAAACTAATAATAACTTGCTTGAACCCTAAAAAGCAAGCCTTTAAGTAAATAGCAAAGACACATTTTTATTTCCAAATGAATTTAAATGTTACAGATCCTGTGTGATAAAGGAAGTTTAACTGTGGACAGCACACGTTAAATTTCTTAGGCAACAAACATTTCTCCATGCAGTCTTTTCTGAATCACCAAAGCTATTGTTCACAGAAAACGAGACCAATTAATAAGAAACTGCTAACCGTATAATCTAAACACACATTTGTCATAGCCATTCTATTTTGATCACCTACTTCTACCACCTCATCCTCATTCAACCCGTCGGGATTTGGGGAATAATCTGGCTGAATGACAGTTGATTTCGTTAGCACCTGTCGCCATTCTCAGATGTATCACACAAGTTGGCCAAAACAGCTTGTAATGTTTAAGGATTACGATTCTTTAGAAAGTGGCAACTCACTAGGCGTTCACCAAGTTTTCCAAAAGATCGTGCTTCTCGATTCCTCCCGCTTTCAAAAAGTAACCCTGTGGCACAGATTTTTGGGGGGAACGGAAGGGGATGTACACAATGAAGTGGGAATTCAACAGGACGCCCTCCAGAAACACAATCAATAGAGAGCAGAGCAGCTCGACTCTTCCCTCAAACTTAGCATAAAGCCAGACCAGGCGGCGAGGGCAGCCCGCGACCGCCGGAGCTCAGGGGGATTTCGGGGTGCGTCGTGGGGAAACGTCAGAGGCGAAGCTACTCCGAGTTCCCCGCCGCGAACGTCGTCCCGCGAGCGCCGCGGCCCCAGCCCGGGGTCGGCGCGCCCGGGACCGGGGGCGTGCGCGAGGCGAGGGCCGAGCCCTGCCCACCCCGGCAGCGGCCCGCGCCTCCCCACGCCCCTCTCCCGCCCGCCGGCGGGCCCGGGTGTCATGCCCCTTCCCCTCGCGCCGAGCCCTCCGGAGACACAGTCCGTCCTTTGTCTGAGTGCGGACTCGGCGGCTGGGTCCCACCAACTTGTGTCTGTCCCGTCCCACCCGGGCGCTCCCGCCGCGGCCGCGCCACACAAAGGAGACTTGAGGCTCGAGCTGCCACCCTGGACCGGGCACCGGAACGCCCCGACCCCGGCCCCGGCGCCCCGGCCAGGACAAGCACCGGGAAAGGAGCCCCCCACACGCCCCCCGCCCCGCAGCTCCAGGGGTGTGCGCTGCCTCACTCGCAGGGTCCCGCGGGCCAGCCCGAAGCTCACAGCTCCTTCCGGGGAGGGGGGCTCTCCCCTCACCCTCCACCCCCCGCACGCCTACAAACGCGGCGCCCCGGTGAGCCCCGCTCGGCGATACCCGGGACCGGCACAGCAGTGGCGGGGAGGTCCTGGCGCCGCCGCCGCCGCCCGGTTCGCACTCCCGGAGCCCCGCCGGCCGGGCCGCCCGCAGCGGCGCGTTACCTTCGTCCCGCGCGCCGACTCGCGTTGTTCCCGCGCGTCGCCCCCGCGCGCCGCCGCCGCCGCCGCCGGGGCTCCACTGCCTTCTGAGTCCCACCGGGTGTCGGACGCGACCGGACCGAGCGCCAAACGCGGCAGCCCAATCGCCATCGCTTTTATTTGGCCCCCCCCAGCCCAATCAAGCGCCGCCCCGATTGGCGGGACGCGAGGCGGGCGCCCGTCCAATCACAGGGCCCGCCGGGCTCGGAGGCGCCGAGCCAGCCCCACGCAGAGTGCGCTCAGGGCTCGTGGGCGGGCGGGCACTGGCAGCGCGTGCGCGCGCGGGCGGCGGCGGGGTTCGCTGTAAGGGACGCCACTGGCCGTGTGGAAGCGCCGCCGCCGTCTCTTTGTTCTTTCGCTGAACACACGGCGCCTCTCAGGAAGGCGGTGTGCAGGCACGCGGGGACCGGGAGACATCGCGGGGGCCCGGAGCCCGCCGCGGACGGGAGGCGGGGAGGATAGGTGGCGGGAACCGGCCGAAGGGCGGGACGAAGCGCCGGCGGCTCTTGGCGGGAACCGGCGCCGCAGAGTTCCCGGGCGGGGGAGGGGCGGGGCGGGTGCTGGAAGCCAAGTTTGAACCAGTTCAAAACTCGGGGGTGGTAACGGTTTTAACCGCCGCGCTCGTTTCCCCGCGCGCGGAGCCGAGGCCCGGGCTGGCCGCTCCTAGTGGTGCCCGGGGAGGGGAGGGCGCGGGCCCCGGAGGTCGGCTCAGCTGTGGCGCCGCGTTTGCCGGGAGACGCTCGCCCGGCCCGCGCGCTGCCGCCGGACCCGTTACTACTTTTTTTTTTTTCTCCTGAGACGGAGTTTCGCTCTGGTTGTCCAGGCTGGAGTGCAATGGCGCGATCTCGACTCACCGCAACCTCCGCCTTCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTCTATTTTTAGTAGAGACGGGTCTTGGTCAGGCTGGTCTCGAACTCCCGACTTCTGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCGCCGACCCGGGCCCTGTTTGATTATGTCTGCTGCTGCCTTGGCCGTTTTTTCCCCCACCGCTGGACTTTGGCTGGCCGAGCTTGCAGTGCTTATCGCCCTAGAAACCTGTGAAAGGGCGACATTGCTGCCATTTCAGACCCTTCCACTGTTCGTAGTTCTAAGCACGTGTCAGTGTTAAAAATCCTTTATCAAGATGAGCACTGTTCACTTGCCGCCTCTGCAAAGTGTGAGGATATTTGCAAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGGTCAGGAGATCGAGACCATCCTGGCTAATAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAATTGATCTTGGTTATGGGGGGTCAAGCTACCTCAACCCAGAGGAATTAGAGGGATTCTGCTTAGGATACAGTCTCTCCTATTGCTTCATGTGGCAATGCAGTTAAGAGTATTCCGAATTTATTTTTACTAGGATGTATCTATGGGGTAAAATACCATTGTCATGTAAACTGAGATTCCATATTGAGAGTTCATACTGGAAACTGAAAAAAGGTCACCTATGAACTGTTGGGGTAAAAATCTGAAGAAATATTTTTAATGAATTTAATAACTAGCCAGAATTTTTTTTTTTTTTTTTTTTTTAAGAAACGGAGTCTCACACTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAAGCCCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGACCACAGGTGCCTGCCACCACACCCGACTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTG | benign | 129,901 |
Gene mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150945521—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GCACAAACCTGTCTTTTCTGCCTGGCATCCCTCTCTGTCACCCCTCTCCCCCTCTGACCTGTGGATCTCTTCCTTCTCCCTGTCTCTCCCAGGCCCTGGAAAGGGGGAGATCCCTTCCTTCTCTCCTCCCTGCTCTGGGCACAGGGAACCTTCCAGGCTGCTCAGAGACCAACACCCGCCCCACCCAGGCATGGGCAGTGAGAACGGCACAGTTGTCTTTAAAACAGTCAACAGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGGCGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCAGGAGGCGGAGCTTGCAAGGAGTTGAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCGGGACTCCATCTCAAAAAAAAATTAATAAAATAAAACAGTCAACAAACCCACCTCCGAGGGTCAGAGGTTTCAAAGACTCAGTGAGAAGCTGCTCTGTCTCTGGAGGCCTTTGGCAGCTCCCTGCCTGCAAACCCACCCAGCTGGGCACAGCCTGCCCGCCACCCATTGGCTCTCCACACCAGCCTCAGTCATTGCACCACATTCCTCTGGGGGCTGCATGTCCTTACAAGCCCAGCAGCACATGCACACACATGTACACACACACAGGCACACGCAGGCACTTGCACACACACCCTTCACTGTCCCCAAGACATCTGCCTTGCCTTGCTCCCCGGTCATGGGAATGAGTCACCCTGAAGGTTGCACCCTCTTCAGGAAGCTCCTCTTGAGATCCAGGATCACAGGGGACCAAGGTGATACAAGTGAGGTCCATCTGCAGCCAGACACCAGGTGAGCTCTGGTCAGGGCTGGAGTCACCAGTGTGTCCGGGGCCCAATTGTATTGGATAAGATAAGGCTAAGTTGTGGGTGGCAGGGGGAGCCAGGACTCAGACCAATTTCAGGTTAGGGTCAACGCAGGCTCAGGAACTGGGTGAGGGAGACAAGTGCAGGGCTGCTTCCACAGTCAGTGTGAAGCCAAGCTGTGGGAGCCAGGGTGCCCCACCCAGCAGAGGCACATGGCCCTCAGGGGCTAGACACCAGGTCAGTGTCCCATCAGGACTGCCTCTAAATGCATGTGGTTCAGGGGGTTTTTTGTTATCTTGAATCCAGGGCCCTACAGAGACAAGATTCTGTCTCCCTGGAGATGACCTGTGTCAGCCCCCAGGGAGCACCCCCACTGCACACACCCAGACCTGGATACAGGGGCAGCCCTGTGGGCCTGGGCATGCAGACAGACCCGGATTCCTGTGCAGGCACACCTATGCATGTCCAGACAGGAACACAGGACACAGCAAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGGAGCGGCCCAGCAGCGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCAC | GCACAAACCTGTCTTTTCTGCCTGGCATCCCTCTCTGTCACCCCTCTCCCCCTCTGACCTGTGGATCTCTTCCTTCTCCCTGTCTCTCCCAGGCCCTGGAAAGGGGGAGATCCCTTCCTTCTCTCCTCCCTGCTCTGGGCACAGGGAACCTTCCAGGCTGCTCAGAGACCAACACCCGCCCCACCCAGGCATGGGCAGTGAGAACGGCACAGTTGTCTTTAAAACAGTCAACAGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGAGCGTGGCGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCAGGAGGCGGAGCTTGCAAGGAGTTGAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCGGGACTCCATCTCAAAAAAAAATTAATAAAATAAAACAGTCAACAAACCCACCTCCGAGGGTCAGAGGTTTCAAAGACTCAGTGAGAAGCTGCTCTGTCTCTGGAGGCCTTTGGCAGCTCCCTGCCTGCAAACCCACCCAGCTGGGCACAGCCTGCCCGCCACCCATTGGCTCTCCACACCAGCCTCAGTCATTGCACCACATTCCTCTGGGGGCTGCATGTCCTTACAAGCCCAGCAGCACATGCACACACATGTACACACACACAGGCACACGCAGGCACTTGCACACACACCCTTCACTGTCCCCAAGACATCTGCCTTGCCTTGCTCCCCGGTCATGGGAATGAGTCACCCTGAAGGTTGCACCCTCTTCAGGAAGCTCCTCTTGAGATCCAGGATCACAGGGGACCAAGGTGATACAAGTGAGGTCCATCTGCAGCCAGACACCAGGTGAGCTCTGGTCAGGGCTGGAGTCACCAGTGTGTCCGGGGCCCAATTGTATTGGATAAGATAAGGCTAAGTTGTGGGTGGCAGGGGGAGCCAGGACTCAGACCAATTTCAGGTTAGGGTCAACGCAGGCTCAGGAACTGGGTGAGGGAGACAAGTGCAGGGCTGCTTCCACAGTCAGTGTGAAGCCAAGCTGTGGGAGCCAGGGTGCCCCACCCAGCAGAGGCACATGGCCCTCAGGGGCTAGACACCAGGTCAGTGTCCCATCAGGACTGCCTCTAAATGCATGTGGTTCAGGGGGTTTTTTGTTATCTTGAATCCAGGGCCCTACAGAGACAAGATTCTGTCTCCCTGGAGATGACCTGTGTCAGCCCCCAGGGAGCACCCCCACTGCACACACCCAGACCTGGATACAGGGGCAGCCCTGTGGGCCTGGGCATGCAGACAGACCCGGATTCCTGTGCAGGCACACCTATGCATGTCCAGACAGGAACACAGGACACAGCAAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGGAGCGGCCCAGCAGCGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACNN | benign | 129,933 |
The mutation in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150946955—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome'] | ACAGGAACACAGGACACAGCAAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGGAGCGGCCCAGCAGCGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCC | ACAGGAACACAGGACACAGCAAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGGAGCGGCCCAGCAGCGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGC | pathogenic | 129,942 |
Evaluate the clinical significance of the mutation at chromosome 7, position 150946975 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGGAGCGGCCCAGCAGCGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCA | AAGTAACAGTTACACCCTCCCAGCACCACTGGAGTCTCCTCAGGATAATTATTTATTATTCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGGAGCGGCCCAGCAGCGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCANNNNNNN | pathogenic | 129,944 |
The mutation in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150947034—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome'] | TCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGGAGCGGCCCAGCAGCGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGC | TCATAGTCATCAGCATCTTCATTAATTATTCATATGATCCTTAATTATTATCCTTAACAATAAGAGCAGTAAATAGCAGAAAAGTCCTTGAGGTGCCTAAGGCCCAGGGCCGGGTGCCTCCGGGCAGTTAGACCAGCTAATGCCCTCAGGGCAGTGGGGGGACCACAGGCCCCACCTACTGCCGGCCCTGCCCCTGCCCCTCTCACTGGGGCCCAGGGGACTGCAGGAGAAGATGGTCCCAAGGGCTGGGGGAGGAGCTGTGCTTTCGAGTTCCTCTCCCCTTCCACGGTCAGGGCCTCCTGAGCAGGGCCTCCAAGGGGAGCGGCCCAGCAGCGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAG | pathogenic | 129,951 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 150947367, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): what disease(s) if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | CGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTT | CGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAG | pathogenic | 129,965 |
Variant at chromosome 7, position 150947367, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | CGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTT | CGCCTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTNNNNNNNNNNNNNN | pathogenic | 129,966 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 150947370, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): what disease(s) if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | CTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTT | CTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTT | pathogenic | 129,967 |
Variant in KCNH2 (potassium voltage-gated channel subfamily H member 2), chromosome 7, position 150947370—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTT | CTTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTNNNNNNNNNNN | pathogenic | 129,968 |
Considering the genetic mutation at chromosome 7, position 150947371, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | TTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTT | TTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTT | pathogenic | 129,969 |
Located at chromosome 7 position 150947371, the variant affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTT | TTGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTNNNNNNNN | pathogenic | 129,970 |
Is the genetic variant on chromosome 7, position 150947372, gene KCNH2 (potassium voltage-gated channel subfamily H member 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTT | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTT | pathogenic | 129,972 |
Chromosome 7, position 150947372, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome'] | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTT | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTT | pathogenic | 129,973 |
Does the genetic variant at chromosome 7, position 150947372, impacting gene KCNH2 (potassium voltage-gated channel subfamily H member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTT | TGATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTN | pathogenic | 129,974 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 150947373, gene KCNH2 (potassium voltage-gated channel subfamily H member 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | GATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTT | GATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGGCCCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTNNNNN | pathogenic | 129,975 |
Chromosome 7, position 150947373, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome'] | GATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTT | GATCCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTNNNNNNNNNNNNNN | pathogenic | 129,976 |
Considering the variant on chromosome 7, location 150947376, involving gene KCNH2 (potassium voltage-gated channel subfamily H member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Long_QT_syndrome'] | CCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTT 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CCCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTN | pathogenic | 129,978 |
Gene mutation in KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150947377—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTT 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CCTGGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTNNNNNNNNNNNNN | pathogenic | 129,979 |
Clinical significance of chromosome 7, position 150947380, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTT 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GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTT | pathogenic | 129,980 |
Variant in KCNH2 (potassium voltage-gated channel subfamily H member 2), chromosome 7, position 150947380—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTT 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GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTT | pathogenic | 129,981 |
Clinically, how would you classify the variant at chromosome 7, position 150947380, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Long_QT_syndrome'] | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTT 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GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTN | pathogenic | 129,982 |
Classify the chromosome 7 variant at position 150947380 affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Long_QT_syndrome'] | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTT | GGGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTNNNN | pathogenic | 129,983 |
The mutation impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7 at position 150947381: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome'] | GGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTT | GGTGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTT | pathogenic | 129,984 |
Gene KCNH2 (potassium voltage-gated channel subfamily H member 2) variant at chromosome 7, position 150947383—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTT 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TGAGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTT | pathogenic | 129,985 |
The mutation impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7 at position 150947385: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTT 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AGCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTN | pathogenic | 129,987 |
Variant at chromosome position 150947386, chromosome 7, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTT | GCCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTT | pathogenic | 129,988 |
Variant in gene KCNH2 (potassium voltage-gated channel subfamily H member 2), located at chromosome 7 position 150947387: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome'] | CCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTA | CCACGTGTCCACACTGGGCAGCCCCACTAACTGCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTAN | pathogenic | 129,991 |
Clinical significance of chromosome 7, position 150947419, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCAC | GCCCGGGTCCGAGCCGTGTCTGTGCAGGGGCTGGGAGGTGAGGGCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACN | pathogenic | 129,996 |
Variant chromosome 7, position 150947462, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Disease(s)? | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2', 'Short_QT_syndrome_type_1'] | GCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGC | GCCCCCAGCTGGCCCGGTAGGGAGAGGCGTCGTGTGGGGCCTTCTTGGGGAAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCN | pathogenic | 130,005 |
Clinical classification of chromosome 7, position 150947512, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | AAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATT | AAGCTCTGGGGCCCCCGGGGGCAGCTCCTCACACGCCATGAACTGGGAAACCTGCAATACACACAGAGCATGGGCAGGCGAAGAGGCCATGGAGGAGGAGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTG | pathogenic | 130,010 |
Mutation found at chromosome 7 position 150947610, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2', 'Short_QT_syndrome_type_1'] | AGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGA | AGGAAGGGGAGGGAAAGGGGCAGGAGAACCCGGGGACAGAGGATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGANN | pathogenic | 130,016 |
Regarding the variant found on chromosome 7 at position 150947652 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | ATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGA | ATGGACGGGAGGACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGAN | pathogenic | 130,023 |
Does the chromosome 7 mutation at position 150947664 within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Long_QT_syndrome'] | ACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCA | ACAGGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCAN | pathogenic | 130,027 |
Determine whether the variant at chromosome 7, position 150947667, in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCC | GGAGGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCC | pathogenic | 130,028 |
Is the chromosome 7, position 150947670 variant in KCNH2 (potassium voltage-gated channel subfamily H member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACT | GGGCCAAGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCAC | pathogenic | 130,031 |
Benign or pathogenic: chromosome 7, position 150947676, gene KCNH2 (potassium voltage-gated channel subfamily H member 2) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCAC | AGAGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACN | pathogenic | 130,034 |
Does the variant impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7, position 150947678, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAG | AGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACA | pathogenic | 130,035 |
Determine if the mutation at chromosome 7, position 150947678 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiac_arrhythmia'] | AGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAG | AGGAGAGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGN | pathogenic | 130,036 |
Does the genetic variant at chromosome 7, position 150947683, impacting gene KCNH2 (potassium voltage-gated channel subfamily H member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | AGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGG | AGTCAGGTGGGCAGAGAAGCTGGAGGGGACAAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGG | pathogenic | 130,040 |
Chromosome 7, position 150947713, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGA | AAGAGCCAAGGCAGCGAGAGCAGGACAGGGGCCACCAAGGGGAGGCACCAAGGTGGGAAGTAGAGAAAGGCATTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGG | pathogenic | 130,042 |
Assess the variant on chromosome 7, position 150947785, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome'] | TTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACC | TTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAAC | pathogenic | 130,045 |
The mutation impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7 at position 150947785: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome'] | TTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACC | TTCTCTGAGAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCN | pathogenic | 130,046 |
Considering the variant on chromosome 7, location 150947793, involving gene KCNH2 (potassium voltage-gated channel subfamily H member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | GAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCG | GAGCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGN | pathogenic | 130,049 |
Located at chromosome 7 position 150947795, the variant affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1/2,_digenic', 'Long_QT_syndrome_2'] | GCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAG | GCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGA | pathogenic | 130,050 |
Variant on chromosome 7, at position 150947795, affecting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Long_QT_syndrome'] | GCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAG | GCAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGN | pathogenic | 130,051 |
Determine whether the variant at chromosome 7, position 150947796, in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype'] | CAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGC | CAGGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGACCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCN | pathogenic | 130,053 |
Considering the genetic mutation at chromosome 7, position 150947798, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTT | GGAGCCAAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTNNNNNNNNNN | pathogenic | 130,054 |
A mutation at chromosome position 150947804 on chromosome 7 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype'] | AAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGC | AAACAAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCN | pathogenic | 130,057 |
Clinical classification of chromosome 7, position 150947808, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGC | AAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAG | pathogenic | 130,058 |
For chromosome 7, position 150947808, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGC | AAGAGAGCTGGGAGCAGGGAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCN | pathogenic | 130,059 |
Clinically, how would you classify the variant at chromosome 7, position 150947826, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCC 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GAAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCNNNNNNNNNNNNNNNN | pathogenic | 130,064 |
Is the genetic mutation found on chromosome 7 at position 150947827, within the gene KCNH2 (potassium voltage-gated channel subfamily H member 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | AAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCC | AAAACCCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCN | pathogenic | 130,065 |
Evaluate the clinical significance of the mutation at chromosome 7, position 150947832 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome_2'] | CCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCT | CCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCC | pathogenic | 130,066 |
A genetic alteration at chromosome 7, position 150947832, in gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCT | CCTAGGCCCCTGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTNNNNN | pathogenic | 130,067 |
Considering the genetic mutation at chromosome 7, position 150947842, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome'] | TGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTA | TGTCTCTTCCCGAGGGAATGTGGCCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGG | pathogenic | 130,068 |
Is the genetic variant on chromosome 7, position 150947865, gene KCNH2 (potassium voltage-gated channel subfamily H member 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | CCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAG | CCGCTGAGCCCAACCCAACCTGGAACAAGCAGTCTCTGTGTTGGGACAGAAGCTGGGACAGAAAAAGAGACAAGATTCCTTCCCGCAATCCAGAAAGAACTCGGGGACCTAGAAACAGAGGCAGGCTGGCGGCCAGGCATCTGAAGGCCAGGGAGAGGGCCGGGGCAGGCGGGAGGGGTTTGTGGGTACTGAGCGTCTGCTGGTGAGAGCTCTGCGGGGGCGGCTGCGAAGGGAGACTGGCACATTTGCTGACGTGGGCCCTCGTGTCTGCAAACAGGAGCAGGCAGCATATGGGAGGGGGGAGCGGATGCCAAGGGAAGTGGGGAGGGAGCAGATCCCAGGCCGCCTCTGGCAGCCAGAGGAGTCCCCACCATGGACGCGGAGGTTGACACAGACACCGCCATCCTGCAGAGGCCAGGAACATGCAGGTCCACCCAGGAGAGGACAAGGGGCAACTAAGGCCCATCTCTAGCAGAGGGGGCAAAGCAGGCCCAGGAAGTCCTCCCCTGGAGGCTTGGCCTCTGCACCCTGGGAAATGCCAAGCACCCTCAAGATGACCCTGTGACAGCCACTGCCAAGGGCAAGGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGN | pathogenic | 130,071 |
Does the chromosome 7 mutation at position 150948449 within gene KCNH2 (potassium voltage-gated channel subfamily H member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCAC | GGATGGGCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACNNNNNNN | pathogenic | 130,082 |
Classify the chromosome 7 variant at position 150948455 affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCC | GCAGGACGGTGAGACCAGGGAGTGTCACTCACAGAAGGGACCCGGGACCCTGTCCCTAGATACTCTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCC | pathogenic | 130,084 |
Does the variant on chromosome 7 at location 150948519 affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | CTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCT | CTGGTATGCAGCCTCCACCGCCACGTCTCGGGCTCAGTCAGTTCTTGGAGACCACCCGTGGCCGTGAGACAGGCACCACCGTTGGAGCTGGCTCTTCAGGCGATGCTCCGGGGCCTGGCGGTGGAGGCTGTGGACACTAGGGGAGTGAAGCTGCGGGCCACTTAGCCTACAGGTTCCCTGCACCCAGCTGTCTAGGGGCTTTGGACGGGGGACTCTCCTGCCCTACCCTGAGCCTGCAGCTCCTGAAGCAGCCTTCCTCCAGGAGGACAGGGGTGGGAGGAGGGCAGGAACAAGGTTCAGGGAGGCTGGGCCACAGAGCCCAGCAGAAAGGCAGCAAAGCAGGTTTGGGCTGGAATCGGGGAACAAGCGGGTCACGGTACATCGAGGAAGCAGGGCTGGAGCTTACCTGAGAAAGCGAGTCCAAGGTGAGGGTGGGGAGGGGGCTGACGGGCAACAGCGGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTC | pathogenic | 130,094 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 150948977, gene KCNH2 (potassium voltage-gated channel subfamily H member 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCC | GGGGATGTGGAAGTGGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCN | pathogenic | 130,117 |
Does the variant on chromosome 7 at location 150948991 affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Long_QT_syndrome_2'] | GGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATC | GGGGCCAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCN | pathogenic | 130,123 |
Variant on chromosome 7, at position 150948996, affecting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGT | CAGGCCCCGGGGTGGTCACAGCACTGTAGGCGGGCGGGACCAGCGTCATCTGCCTCTGTAGCAGCTGCAGGACAGTGGCCATGTCTGCACTCAGCCGGGTCTCCAGCCTGGGGCAGGAAGTGGGGGATGCTCAGAGAAGTGGGGACACCAGTGACAGCCTCCACCGGGAGTGGGGAAGGGGAAGGGGAGGGGGGAGGGGCAGCCTGTCAACCCAGGCCCTCCGCGCTAGAGGTGTGGCAGCCCCCAGCTGGGCTAGGAATGGAAGAAGGGGATCCAGCTGCTGCACACACAGACAGGCCCTCTCCCTCTACCAGACAACACCGCCAGGACCTGGACCAGACTCCAGGGCGTGCCCCCCCACCCCACCTGCACTCCCTCACCTGTTGAGCTGGCGCTGGAGGGCATCCAGCCTGCTCTCCACGTCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTNNNNNNNNNN | pathogenic | 130,127 |
Mutation found at chromosome 7 position 150951082, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_long_QT_syndrome', 'Long_QT_syndrome'] | AAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAG | AAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGN | pathogenic | 130,189 |
Is the variant located on chromosome 7 at position 150951106, gene KCNH2 (potassium voltage-gated channel subfamily H member 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAG | CATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCAACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGNNNNN | pathogenic | 130,194 |
For chromosome 7, position 150951477, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | TTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAA | TTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAANNN | pathogenic | 130,208 |
For chromosome 7, position 150951691, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Long_QT_syndrome'] | GGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGG | GGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGN | pathogenic | 130,261 |
The mutation in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150951763—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | ACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCC | ACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCC | pathogenic | 130,281 |
Chromosome 7, position 150951814, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAG | TTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGN | pathogenic | 130,289 |
The mutation in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) at chromosome 7, position 150952457—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCA | GCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCANNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 130,302 |
Is the chromosome 7, position 150952468 variant in KCNH2 (potassium voltage-gated channel subfamily H member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Long_QT_syndrome'] | CCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCC | CCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCN | pathogenic | 130,305 |
Assess the variant on chromosome 7, position 150952696, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Long_QT_syndrome'] | GTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCC | GTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCCN | pathogenic | 130,334 |
Mutation at chromosome 7, position 150952839, within KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype'] | GCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCCCACTCCTCCTCCACTGTCGGCCCAAGCCTGCCCCAGGCTGACAGAAGAGCGGCTGGATGGCTCCCAGGAGGTCACAGAGTAGTGCATGGCCCAGCCACCACACCTCGGCTGCCCATGAAGAGATGAGCCAGGTGCCTCAGCCC | GCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCCCACTCCTCCTCCACTGTCGGCCCAAGCCTGCCCCAGGCTGACAGAAGAGCGGCTGGATGGCTCCCAGGAGGTCACAGAGTAGTGCATGGCCCAGCCACCACACCTCGGCTGCCCATGAAGAGATGAGCCAGGTGCCTCAGCCCN | pathogenic | 130,356 |
Does the genetic variant at chromosome 7, position 150952842, impacting gene KCNH2 (potassium voltage-gated channel subfamily H member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | ACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCCCACTCCTCCTCCACTGTCGGCCCAAGCCTGCCCCAGGCTGACAGAAGAGCGGCTGGATGGCTCCCAGGAGGTCACAGAGTAGTGCATGGCCCAGCCACCACACCTCGGCTGCCCATGAAGAGATGAGCCAGGTGCCTCAGCCCAGC | ACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGGCAAACTAAGAAGAGCTCCGGCCAGCTTCTCCACACTGTCCCAGAAGCTTCTGGGTCTCCCTAGAATCCTCTCTCAGGCATGCAGCTCAACCCAAAAGCCCCCTCCCCAAGCTCTCCCTGCCATCCCTGGGCAGCCAGCTGAACCCAAGGCCTTGCCCAGCCCCCATGAATTCCAGAGGTGCTGGCCCTGCTCCCAGAAGCACTGACTCCCAGGCCCCCACACCCTCAGGCTTTTGGGTTGGGGAGGCCATAGTTGATGAGTCCCAAAGACTCCCCTTCATACTCAAGCTGGGCTTGCCCAAGACACCTTCACAGATGGCGCTGCTGGGAGAACATCTCCTTAGAGGAAATAACTAGAAGTCAAGACGGGTCATAGTCAAAGATTTGACCACCCTGGGGTGGACACAGGGCCTCCAGCGGTACCAGATGGGCTGCGGGAGCAGCTGAGGCCTAGGGCAGGGAGGGAACACATGGACAGGCTCACAGGCTCCATTTCTGCTCTGTCTGCTGTCTAAGTGCCCAGCTCCTTAAGGCAGAGAGCAAATGCCCATGGGTGGGTGGCCCTTCAGTGATCAAGTGGGGACTGAAAAAAAAAAAAGAAAACACTGGCCAGGCCCCTGCTGATAAGGGGGCAGAAGAAGGTAGCTGCCCCTGGACAGGGCTCTTCTCTGTGCCTGAGAGGTCAAGCCTCTGGGCGGAGGTGTCAGGACCACCCCTAACAGCAGTGACCCTACCCCTGAGTCTGCACACAGCATGAGCAACACTGCCCCAGGGTACAAACTCACACGTGCATGGGGCACACCTGACAGGGGCCAGTCCCAGCTCTGCAGCCACCAGCTCACCTATGGCCTTGGGCCAGGTCTGTCCCCCCAGCCTGTTGTCCTATAGAATACTGAAGCTGGCTTGCTTAAGCCAAACCCTGACTCCTCAGCTGTGGGTGGGAAGACCTACCTGTACCTGTCCCCCAGCTGGAAAGAGTGTATGAGCCAAGGCAGAATGTGCAGATGTGGGGTGGTGGGGGCAGGGATGGGATTCCCAGACTTAGCCCTGAGCCACCTCCCACTCCTCCTCCACTGTCGGCCCAAGCCTGCCCCAGGCTGACAGAAGAGCGGCTGGATGGCTCCCAGGAGGTCACAGAGTAGTGCATGGCCCAGCCACCACACCTCGGCTGCCCATGAAGAGATGAGCCAGGTGCCTCAGCCCAGCN | pathogenic | 130,357 |
Determine if the mutation at chromosome 7, position 150957316 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Long_QT_syndrome_2'] | CCCACGGCTCCCAAAGCTTCCTACTTCCCAGCAGCCCTCTCCCCAGCCTGGAGTCAGAGCCCTTGGGCCAGCCACCTGCCTCAGTGTGCCGGCCCCAGAAAGAAGAGGAAGGACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGCTGGGGTCACCCTGGCAGTAAGCGTGGGCAGCAGCCTGCCTGGCTCGAGCTGCCCATGGCCCCGTGGCGTGGGCCCTGCTGCCAGGGTGCCGTGCTCTGCCCGCCCGCCAGCCCAGCAGCGGCCGCACTCGGAACCTCAGCTCCTCCAGCCGGCCCCTCCTTCTACCAGGTCCCCACCCCCACCCCGCCACACTAGGCTCCCCCGCCCCGCCGGTGCCCAGCCAGCGGCCCCCTCCCCCGCAGCCCGCCCAGGCTCCTGCAGCGGCGCTCCCGCAGCCTGAGCCCCTCCCCCTCCGCCAGCAGCCGGGCCTGTCACCGCAGATTAATGGTCTCCCTGACACCCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCT | CCCACGGCTCCCAAAGCTTCCTACTTCCCAGCAGCCCTCTCCCCAGCCTGGAGTCAGAGCCCTTGGGCCAGCCACCTGCCTCAGTGTGCCGGCCCCAGAAAGAAGAGGAAGGACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGCTGGGGTCACCCTGGCAGTAAGCGTGGGCAGCAGCCTGCCTGGCTCGAGCTGCCCATGGCCCCGTGGCGTGGGCCCTGCTGCCAGGGTGCCGTGCTCTGCCCGCCCGCCAGCCCAGCAGCGGCCGCACTCGGAACCTCAGCTCCTCCAGCCGGCCCCTCCTTCTACCAGGTCCCCACCCCCACCCCGCCACACTAGGCTCCCCCGCCCCGCCGGTGCCCAGCCAGCGGCCCCCTCCCCCGCAGCCCGCCCAGGCTCCTGCAGCGGCGCTCCCGCAGCCTGAGCCCCTCCCCCTCCGCCAGCAGCCGGGCCTGTCACCGCAGATTAATGGTCTCCCTGACACCCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTN | pathogenic | 130,378 |
Does the variant impacting KCNH2 (potassium voltage-gated channel subfamily H member 2) on chromosome 7, position 150957404, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Long_QT_syndrome'] | CCGGCCCCAGAAAGAAGAGGAAGGACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGCTGGGGTCACCCTGGCAGTAAGCGTGGGCAGCAGCCTGCCTGGCTCGAGCTGCCCATGGCCCCGTGGCGTGGGCCCTGCTGCCAGGGTGCCGTGCTCTGCCCGCCCGCCAGCCCAGCAGCGGCCGCACTCGGAACCTCAGCTCCTCCAGCCGGCCCCTCCTTCTACCAGGTCCCCACCCCCACCCCGCCACACTAGGCTCCCCCGCCCCGCCGGTGCCCAGCCAGCGGCCCCCTCCCCCGCAGCCCGCCCAGGCTCCTGCAGCGGCGCTCCCGCAGCCTGAGCCCCTCCCCCTCCGCCAGCAGCCGGGCCTGTCACCGCAGATTAATGGTCTCCCTGACACCCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGG | CCGGCCCCAGAAAGAAGAGGAAGGACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGCTGGGGTCACCCTGGCAGTAAGCGTGGGCAGCAGCCTGCCTGGCTCGAGCTGCCCATGGCCCCGTGGCGTGGGCCCTGCTGCCAGGGTGCCGTGCTCTGCCCGCCCGCCAGCCCAGCAGCGGCCGCACTCGGAACCTCAGCTCCTCCAGCCGGCCCCTCCTTCTACCAGGTCCCCACCCCCACCCCGCCACACTAGGCTCCCCCGCCCCGCCGGTGCCCAGCCAGCGGCCCCCTCCCCCGCAGCCCGCCCAGGCTCCTGCAGCGGCGCTCCCGCAGCCTGAGCCCCTCCCCCTCCGCCAGCAGCCGGGCCTGTCACCGCAGATTAATGGTCTCCCTGACACCCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGN | pathogenic | 130,385 |
Variant at chromosome 7, position 150957427, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | GACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGCTGGGGTCACCCTGGCAGTAAGCGTGGGCAGCAGCCTGCCTGGCTCGAGCTGCCCATGGCCCCGTGGCGTGGGCCCTGCTGCCAGGGTGCCGTGCTCTGCCCGCCCGCCAGCCCAGCAGCGGCCGCACTCGGAACCTCAGCTCCTCCAGCCGGCCCCTCCTTCTACCAGGTCCCCACCCCCACCCCGCCACACTAGGCTCCCCCGCCCCGCCGGTGCCCAGCCAGCGGCCCCCTCCCCCGCAGCCCGCCCAGGCTCCTGCAGCGGCGCTCCCGCAGCCTGAGCCCCTCCCCCTCCGCCAGCAGCCGGGCCTGTCACCGCAGATTAATGGTCTCCCTGACACCCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACA | GACCGGGTGTCACCTACCTCCTGGGCCACGAGGCTGGAGATGCGCACGGCCCGCCTCACCCGGCCTTTCTGGGCCCTGGGCCGCAGAGCCCCTGTCCTGCTCGCCTTCCCGGCTGGGGCCGCCATGGAGGACTTGGCTCCCTGCAGCCTGCCTGCCCTGGGGCCTGAGGGCCCGGCCACTGCCTCACCTGCACCCCAGCAGCAGTCCCAGCCCAGGCTGCACCCCCGAGGCTGGCCGACTGGCAACCAGAGCAGCCCCTGGCATGAAGCCAGGGTGGTTGTGGCTGGGCCCCAGGGCTGGGGTCACCCTGGCAGTAAGCGTGGGCAGCAGCCTGCCTGGCTCGAGCTGCCCATGGCCCCGTGGCGTGGGCCCTGCTGCCAGGGTGCCGTGCTCTGCCCGCCCGCCAGCCCAGCAGCGGCCGCACTCGGAACCTCAGCTCCTCCAGCCGGCCCCTCCTTCTACCAGGTCCCCACCCCCACCCCGCCACACTAGGCTCCCCCGCCCCGCCGGTGCCCAGCCAGCGGCCCCCTCCCCCGCAGCCCGCCCAGGCTCCTGCAGCGGCGCTCCCGCAGCCTGAGCCCCTCCCCCTCCGCCAGCAGCCGGGCCTGTCACCGCAGATTAATGGTCTCCCTGACACCCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACAN | pathogenic | 130,386 |
Evaluate if the mutation on chromosome 7 at position 150958064 in KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTC | CCCCGCCCAGCCGGTCCAGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTT | pathogenic | 130,402 |
For chromosome 7, position 150958081, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Congenital_long_QT_syndrome', 'Long_QT_syndrome'] | AGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGC | AGTGCTGAGCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCN | pathogenic | 130,403 |
Regarding the variant found on chromosome 7 at position 150958089 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Long_QT_syndrome'] | GCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCT | GCCAGCCAGAGTCAGACAGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTN | pathogenic | 130,405 |
Evaluate if the mutation on chromosome 7 at position 150958106 in KCNH2 (potassium voltage-gated channel subfamily H member 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Long_QT_syndrome'] | AGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTA | AGAGACACCCAGAGATGGAGAGACTGCTAGTGACTGGCAGGAACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTANNNNNNNNNNNNNNNNNNN | pathogenic | 130,407 |
Chromosome 7, position 150958148, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Long_QT_syndrome'] | ACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAA | ACACACACGCCTGCCGACACATACAGGCGCACATGCACAGACCCACCGCAACTCACGGGCACATGCAGCGGGCACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAAN | pathogenic | 130,412 |
Assess the variant on chromosome 7, position 150958220, impacting KCNH2 (potassium voltage-gated channel subfamily H member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | CACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAA | CACAGGAGCAGGGCAGATGCCAGGGGCTCAGGTGGGAACCAAGAGAGAAGCAAGGGAGGAGGAAGAGAGGGGTAGGTGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTC | pathogenic | 130,423 |
A genetic variant at chromosome 7, position 150958296, affecting gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Long_QT_syndrome', 'Long_QT_syndrome_2'] | TGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGT | TGGCCAGATAAGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTN | pathogenic | 130,437 |
For chromosome 7, position 150958306, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGA | AGGGCCTGGGGTGAGGGGGAATGCTCTGGAGTCAAGGCCAGTGGGCTGGAGACCTGGCAGGGACCCAGAAAGCCAGGCGGTGGGAGCAGGGCCAGGAGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCGCGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGANNNN | pathogenic | 130,439 |
Chromosome 7, position 150958402, gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Long_QT_syndrome'] | AGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCAC | AGCCCGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACN | pathogenic | 130,447 |
Considering the variant on chromosome 7, location 150958406, involving gene KCNH2 (potassium voltage-gated channel subfamily H member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | CGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTA | CGCCGAGGTAGCAGGGCAGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTANNNN | pathogenic | 130,448 |
A mutation at chromosome position 150958423 on chromosome 7 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Long_QT_syndrome'] | AGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTA | AGCTCCCTTACATGAGCCAACCCAGGCAGCTGCTGTGGAAGGGGCAGGAGGGAACAGCTTGGGACAGGAGTCCTCCACATTATCCCAGGCTTCTCACTCACTGCAGAGATCTGCACTCCTGACCCACCCACCCCCAGCCCCCAAAGGCTAGGATAAGGTGTCGGGTGGATGAAGCCATGGAGGGGTCGCAGGTCCTCTTGCTGCCAGGAGGACCCCAAACCCAGGAGGGGACAGAAGACCAGGCTGGCTAATGCCCCCAAGGCTGAGGGGTCTTCTCTGGCCCAGGATTCAGGGACCTGACCCTTCCATATCTTTGTACCCACCACCTCCCTATGAGAAGAAAACTTGCTTCTCCCATGCTTTAGGGACATAGTTGGGCCCCTCGAGGCCATCCTGGCCATCCCCACAGGACTGAGGCCCACCCTCTGCCTGGCACATCACCTTGGCCTGGAAGAATTAGGACCCTCCTGTCCTTGACCTCTGTGACCCCTTCTCATTTGAAGCCTCCCAGTTGGCTTGGCCCCTAGTACTTCCTTCACACACCCTGCAGCCAGACCTTTCATGTCCCTCAGGCCGCCTTCCCCCCTTGCTACTGGCCCTGTCATGTCCCCAGCCTCAACTGCCCTGTCCTCACCCTGTGCCCCGAAGGCACGCACCCCATCCACCCGACCTCCGCTCTGCCATTCCCAGCCCTTTACCAGACCTCTCCAGTCCCCTCTCCAGGACTTCTCAGACTGTCCCCTCTCCCCCCATCGCAGCTCTGGAATAGATTGCCAACCCCAACCCTCAGGTCTGCCTCCCTCCAAGAGGCCCTCACTGGCTAGCCCCCTCCACCCGGCTCTGGATCACAGCCCACTCCCACCCCCTCTCCAAGCTCCTCCAAGGTGAGAGGAGAGCCCGGCCGCTGGGCGCCTACCTGGGTGACCTTCTCAGTGACATTGTGGGTTCGCTCCTTTATCTTAGGTGCTATGATCTCACGGTCACTGGTGGGCGAAGCCAAGAAGGGGTCGCCCTTGAGGTCCACAAAGTTGAGGGTGATTTGGGGAATCTTGCTAATGGTGCGGTAGCGCACGAGGTCGGAGTCCGAGGTGGAGTTGAGCAAGCCGCTGCGCAGTGGGTGCATGGCCCCTAGGTGGAGAGGCAGCGTGGTCAGGCCAGCAGCCCAGGGCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTT | pathogenic | 130,454 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 150959590, gene KCNH2 (potassium voltage-gated channel subfamily H member 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTC | GCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCT | pathogenic | 130,474 |
Does the genetic variant at chromosome 7, position 150959590, impacting gene KCNH2 (potassium voltage-gated channel subfamily H member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_2'] | GCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTC | GCCCCAGGCCAGGCAGGCCACCCATAGATCGAGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCN | pathogenic | 130,475 |
Is the chromosome 7, position 150959621 variant in KCNH2 (potassium voltage-gated channel subfamily H member 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | AGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCAG | AGAGTGGAGACCAGGCCCTGCACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCA | pathogenic | 130,483 |
A genetic alteration at chromosome 7, position 150959641, in gene KCNH2 (potassium voltage-gated channel subfamily H member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Long_QT_syndrome'] | CACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCAGGGGCGACAGTGGTGGTGCTG | CACAGTCAGGAGTCCATGGGGTCAGCTCAAGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCAGGGGCGACAGTGGTGGTGCTGN | pathogenic | 130,485 |
Considering the variant on chromosome 7, location 150959670, involving gene KCNH2 (potassium voltage-gated channel subfamily H member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | AGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGAACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCAGGGGCGACAGTGGTGGTGCTGTGAGTCAAGGTAGAAGCCGGCAACAGACA | AGAGACCAGGGGAGTCACAAGAAACAAGAGAGGTCAGACCCCTGTCCCACTCTAAGGAAGCAGCCAGGAGACAGCCCTGAGACCAGGAAGAGGAAGAGGAAACGGTCTGCTCCAGGACGCTGGCAGGCAGGGGGCCAGGTGGTGTTCGGAGGCTGGGCACGTCTCCTGCCCAGGGCATCCCTGCTCCAGGCCGTCCCGGGACAGCCAGCTCCAGGGGCCCACCAGGGCTCTGGGAGTGGAAGAATGTAATGGGATGAATGGACATTTAATAGCGCAACAAGCCACTTAATGGAATTAAATAAGTGCTTAATGGGATTTCCATCTCCCAGGCACCCAGGACGTAGTGAAAAGGTCAGAAGCCGAGGGCCCAGAATGCAGCAAGCCTGGCAGCAGAAGAAGCGTGGGCTGGGGCGGAACGGGTCCCGCGGCGCCCTCACCGGTGCTGGCGTGGCGCGGTGGCGGGGGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGCGCAGCTTTCTCGGGAGCGCGTCCGGGCCAGGCTGCAGCTGGAGCCCGAGGCGTCGGGGTTGAGGCTGTGCGCCCGGGGCGATGGGAGCTGGCCGGGCGCGCTGCGGGGCGGAGAGCCGGGACCCACCAGCGCACGCCGCTCCTCCGCGGGCCCGAGCCCTGCCACGTGGTTGTCCATGGCTGTCACTTCGTCCAGGGCCAGCGACTCGCTGCTGGGTGCCGCGGGCGTCAGGTCCACGTCCACCACCACGGCCCCCGGGGCGCCCGCGCCGCCCGCGCCGCCCGACCGCACCGACGACTCCCGGGCCGTCAGCGCCAGCAGCGCGGGCAGCTTCAGGCGGAAGGTCTTGGCGCGGCCTGCGGGAGAGGAGAGGCACGTGGTCGTGGGGATCGCGAGCAGCCCCGGAGCGGGCAAGGCCTGGGAAATGGACCCCCAGCCGCTGGGTAAGGGAAGGAGGGGAACGGGCAACCCCCCATCCCCACTTCCATTCACAATATTTTGACCTCGAGTCTCAAAAATCATTCTAGAATCCAGTCATCATAAACCGCCATATCTGAAGTGACACTTCAGGGCGGATTCCATAAATCATCCCTGTCTCTCACACCGGCCGCTGGGTGCCAGCGTCCCCATTTTAGACATGAGGAAGTGTGGACACAAAGGCGTCATGTCACTCTCTGGAGGTCACACAGCCAGTGCGTGGGGCCTGCGCCTAAGTGGGCGACACAATGCCAGGGGCCCTGCCGTCAGGGGTGGCATCCGATGAGCAGGTAGGGCCAGTTTTACTGACACTGTCATTTTAGAGTGTAAGAAACCAAGAGGTGAGCACTTTTGTCATGATGCTGAGGGAAAGATTAAAATTAAGCCAAAGAGGGCATCCTGACAGAGGAAGGGGCTCCGAGCCTTTGTTGTCAAGGGGATGGTCCAGCCCAGGTGGGCATTCCCTCAAAGCCTCTCCTCAGCTAGCCCAGACCCCCAGGAAACTTGGCCAGTCCATGAACAAGGAGCAGATGAAAGAAACTACACACAGCTGAGTCCATAGGACACAGCTTCCTACTGAGGGGAGGAGCTGCTCCCAGGTGGTCATGTTCCCCACCCTGGGCTGCTCAAGCCAGGCTGGAGAGAGGACCGCTCCCAGGGGATGCTGGGATGGGAAGCCCAACAGATGAAGCTAGGGAAACGGTGCTAGCCCACGCCAAGGACCTGTGATTCTGGGCCCTGTCATTCCACCCCTATGTGTCCATCCTGGGCCAGGGGAACCAAGCCACATCCTCAGGGTACAGGGTTCACTTCCCACCTCCAAAGGGGGGACCCCCCACCCAACCATTACATCCTCCCTTCCTGCAGAGCGTTGACCTTGGACAGCTCACAGCCCCAAAGAAATGAGACCACGAACCCCTGAGCCTGCCCTAAAGCAAGTACACTTACCTGGGGCCAGCCAGCTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACCACCTCGAAATTGAGGATGACCACACATGATGACAGCCCCATCCTCGTTCTTCACGGGCACCACATCCACCAGACATAGGAAGCAGCTCCCTGCAGAGTGGGAGGACATAGCCCCCTTGGCACCCACTCAGTGGGCAGAGCAGAAAGCCACGCAGGATGGACCCTGGAACCCAAGTGGGCCCGTCCACTTCTGCCTCCCCGTATGGCCCTTCCTCTCCGGGATCTCCCGTCCTGATCCCCCACCCGGCCATGTGCCTGCCGCCCTTATGGCTCCCCTCAATCTGTCTACCCCAGCTTGTTGCTGCCAGGCTCCCCTACCCCTCTCTCTGCCTATATGATTTATCTAGCTCTTTCCCGGCTGCACTTTTTCTCACGCTGGCTATGATCCTTTCTTCTGCCATCTTTGATCTCATTTCCTCCCTATCTCATTTCCTCATATCCTCCCAGCACCTCTGCCTTTCCCTCAAGCGAGGCGCTGTAGCACAGTGCTTAAGCCCACAGACTTTAGGCCTACGATCTCTGGGTTCATAGCCCGGATCTGCTGCTTAATCACTTATGCTTTTTTCCTAAATTATTTAACATCCTTGTGCCTCATTTTTTCCATCTATAAAATGGGAAGAATAATAATTTTTTCTTTTTAAAATTTTTTAACTTTTTAATTGACACAATAATTGTACATATTTATGGGGTACACAGTGATGTTGTGATACACATAATGTATATAATTCTTTTCTCATGAGTTATAAAGATTAACCAAGTCAGCACATGCTGAGCGCTTAGGCAATGCCTGGCGTATGCCGCACACTACAGACGGTTAGCTGTTACTATCTGTCTCTCTGTTCTCTCTAGATTAGCACCAGCCGTTGTGTCAGCACACAAGATAAGGACAGACGTTGAGAGCAAGAATTTCAAAAACTTTACAGCAATTTGGCATCACCACAAAATCCACGCATGTGCTCTTGTATTTCACAGATGTACCAGCCTATAACATATTAGCATTAAAAAACACTGATCCTTCACCAAAGAGTCTAAGAAGCACTGCTTCTAGATCTTTCATCTTCACCTCGCCTCGCGTTCCCCTCGATCCTTGACTTTTTCTTTTCCAGTCTCTCTCTGTCCACCAAAGGCCCTGTACCAGATGAGGTCAGTCCCCTAAGCCAAGCACCCCTGGTCTCCCTCAGCTCCCTGTTGAGCACATGGGCCCCCTGCTGCCCCACCGCCCCCCGCCCCCCAACCCGTGCTGATTTCTGAAGGAGCCCCTTTTAGGCCAAGCACTCAGTTCCACCTAAGGCCCAGCTCAGAACCTCCTGCCCACAGGAAGTCCTTAATGAAACCAGAAGGCAGTTAACAGCCCGCTCCAGCTCCTCTATGGCCCCCCAGGGACCCACCAGGCAGGCTCCTCATCTCCCACTCTCCCTAGGGAGCCTCTTCCTTCCTCTCAGCTCCCCCTCTGCTCAGCTGTCTTCTCTGCCTCCCAGTGTCTCCCGTCCCCACGTTAGTGCCTAGCACCTAGAGTCATACGCCCTGGGGCCAGCACTGGCTGGTGGTGTCAGTGACAGGCCATGCTGACAGGGAGGCTGCAGGCATGGGGGAGAGGCAAGGGTGACAAACCATGCAGTCCCACTCCATCTTAGCAACCCAGCCTCACTTTTTTTTTTTTTTTTTTTCTGAGACAGGGTTTCACTCTGTCACCCAGGGTGGAGTGCAGCGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGCTGCATGCTACCACACCCAGCTAACTTTTGTATATTTTGATAGAGACAGGGTTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCAAGGATTACAGGTGTGAGCCACCGCACCCAGCCTCTCCTCACCTTTCTACCTCCTAGAGCCTCCCTGGCTCACCCCTACTCCTGATCTCAAACCCACAGCAGGGGCGACAGTGGTGGTGCTGTGAGTCAAGGTAGAAGCCGGCAACA | pathogenic | 130,488 |
Evaluate the clinical significance of the mutation at chromosome 7, position 150974710 in gene KCNH2 (potassium voltage-gated channel subfamily H member 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GTAACCTGGAGAGGGGACAAGTTTGAACTTGGGCTGGGGATCTGGGTTCTAATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTACCATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCC | GTAACCTGGAGAGGGGACAAGTTTGAACTTGGGCTGGGGATCTGGGTTCTAATCCCACTCCTTCCACTGATTCACTGGTCATCAGACCTCTGCTTCTCCGTCCTTCCACCTGCAAGTCGAATGGGTTGGATTAGGTGATCCCACAATAACTCCTCTGCAGAAGGGGGCCCATAGCCATCCTCTCCAGAAGGGGCCAGCCTAGACTGGGAGGGAGGGCCAGCTCCACCTAAGAGCACTCCACACATACCACAGCCAAAGGAAAGAGCCCTCAGCCGCTGCTGCCAAGAGGCCAAATCCCCAGCACAGCTACATCGTAGTGGGACTGGCACCGTGTTTACAGAGCACGGCCCGTTGCAGGCACTCTCTATGAAAGCTCAGCACCCTTGTGAAGGTCCAAAGCAAGGCACGTTATCCCAGAAGTAGAAACAGGCCCAGGGAAGTCAACCAACTTGTCCAGTAGTGTATAATTTCCAGCATTGTCTTAGACACAAACCCAGGACTTATGGGTTCATATTCTTTTCAGTACACCTGTGGTTGGCAAACTTTTACAATAAAATTTCACATGAGATAATGTACAGCATACAGATAGACCTGCAACTACCTGGTGTCATTTTCAATATATGACAGACAGAACAGAGCGCACAGGGCTCCGGTCAGACAGATGTGGGCTCCGTTCCCAACTGCTATTTTCTAGCTGTGTGACTGTGTGAACTTCAGTTTCTTCATCCCCCAAAATGAAGACAACAGTAGTGTCTACCTCCCTGGGTTGTGAAGAGTGCCTGAGATAAGAGAAGTAAAGCATTTGGCCCAGTGTCTAGCCCCTAGAAACCATCCACTGCCTTCAGGGTTTGAGTCTAGTCTCACAGCCCCTGCCTCCTGCCAGTTAGAACCCTGATTTGCTGTGAGCGAACCTTCTTCCACAGGGTGCAGGGACCATGCCCCCTCTAGTGCCGTCCAGTGATGCCACAGACTGTGCACGCCTGCAAAAGCACAGCCTGGAGGATGCAAAGCTTTGCAGGGCCACCCCAGCCAACCCTGAGCACACAGGGCTGGCACATGGGGCTGGCTGGCCTGGTCCCAAACAGAAAGCAGAGCGTGCTCACTGTCTACAGCAGACAAGCTCCCTGAGGGCAGGAGCCTCATCTGTCCTGCCCATCTCCAAGAGCCTAGTGCCTGCCAGGCTCACAAGGGTTGAGTCAATGCTTATGGGACACACGCTAGGAAGCAGCAAGGTTTGCACGCGTTCCAGAGCCGCCTCTGCAGCCGGATTCTGCCCACAGGACCCCAGTCCTCCTGCTCTGCCCGCCCTGACCAGAGCCCACCCCAACAGGGCATTCACGGTGTGGGAGCAGCCCCACCCCGGGCTCTGTTTATCCGCTCTCCGGAAGCCCAGAGCAGCTGTGCTGGGAGGCGGTGGCTGAGTAAAGACACCTGGCGCAGGAGAGGGTGGCAGGGCGGGGCGCTCGACAGCTGAGACAAAGGGAACTGAGGTTGCGGGGAGAGGCACGCACCTCCCCCAGGTGCTGCTGAAGCGCAGGGCAGGAGGGGGGCAGCAGAGACAGCCAGAGTCCTGCAGCCCTCCTGTCCCTCCATGACATCTCCCAGACCTGTCACCTGGCAGCAACTGCCCTAAGGTAGATAGGGGCCTGTGCCCGGATGTCAGCGCACAACTGCCAATCTGACCTTTAACCTCCATCCACGCACGTACCTGCCATCCCAGCTCGGTCTAACTCTAGTCCAACTTGCTCTACGTGCCCACACCTGCCCAGGGAAAAAAAGGACCAGAGGAGCCAGACCCACAGCCTAGCAACTCCTTTGCCCTCCTGAAAACCATCTCAGCAGAGTGAGGCGCAGGCCCCGGAACCGCGCCTCCCACAGGCACACCGCAGGGCCCCCGCCCGCGTCACACCCCCACAGAACCCTGCCCGGGCTCGGGGCGTTCTCCAGCCGCCCCCACACCCCCACACCCCCACGCACCCTGCCCCTCGCCGTGGTCCCGCCCCTCTTGACCCCGCCCCTGGTCGTGGCCCCGCCCCGGCCCGCTCCTAAAATCTTTCCGGTAGAAGGCGATTTCCACTTTGCGCTCCTCGGCGCCCAGCAGTGCCTGCGCGATCTGCGCGGCAGCGCGGCGCTGCGTGCGCGGCCCGTGCAGGAAGTCGCAGGTGCAGGGTCGCTGCATCACCTCGGCCCGCGAGTAGCCGCACAGCTCGCAGAAGCCGTCGTTGCAGTAGATGACGGCGCAGTTCTCCACCCGAGCGTTGGCGATGATGAACTTACGGCCTAGGGGGGCGGGGAGGAGAGTGCGCGTGAGCGGGGACCCCAGCCTCCGGGACTCCCAGCCCTTCCCCACATTCTCCACTCACACAGCCGCCCGGGGACTCCCCGCCACAGGAAGCATGGCTGGGACTGGGGTCCCAGCAGGGGGCGAACGCAGCTGTGCGTGTGCCCCGATACAGGTGCCTGGCCGGCCGGGCCGCGCGGCGCGCCCCCTCCTCCGCCTGGCCCGCGGGCGGGCTGCGTGGCTTCCCCCGGGCAGGCCGCCAGCAGCCCGCCGCCTCCTCCATGCCCGAGGCTGAGGCCAGCCTGGCGGGTGTCAGCAACGCGTGTCAGCAGCCGCGGCGGAGGGATAAACACTGGGCCTAGAAAGGGAGCCTGGGAAAGGCCAGAGATGGCGGCCAGGATTCCCTTTGCATCGGCTCTCTGGATTCTGCTTTTAATTTCCCTGCTCTCCAGACTGGGGGGCGCTCCCTGAGCCACTCCTTATCCTGAGGCTCCCTAGGAAATCACTCCCCGATTATCTGAGGATCCTACCAGGTCAGTACCCCCTAGAACTTCTGCACACCACCCCCGCCCCAAGGGCAGTCAGGAGCTGAGGGGTGGGTGTGCCAGAGAGGATGAGGGAAGTTACACGTTGAACACCTAAGGACGCTGCATCTCATTAGGTCCTCTGACAACCCCATAAGGTAGGTGTTATTATCCTCCTTTTATAGATGAAGAAACCAAGGCTCCAGAGAAGTTCGGCACCATGCCCAAGTCTTGCAGCTTGTAAATGATAGAGCCAGCTTTTGAACCTTGGTCTGGCAGAGGCAGAAGAATAAGCTGAGGGTCACAGGCAGAAGCCCAAGGTCATAGGAAGCAAAGAGAGGGACCTGCAGCTCCAAACCCTGGACACACCTGGAGCCTGGGCGGGGCCTGAGACTTTGGCCCCACTTGTAGGAAAACAGACCCAAGAAAGGGGACCTGCCCAGGGATGTGAGGCCTTCCTCAGTTTGGCCTCATCCTGGATGAGCACCCCCATGGTTCCATTTCTGCCAGACTTGGCTCCCTGACTCCAGGCCTGCCCGGAGAGCCAGGCTGGCGAGTGAGCAGCAGGCAGGCAGCAGCCTCACTTGTGCCAGGCAAGATGCTCCTGGGATAAGAGCTTTTTATAAACAGAAGTTTCCGGCCACTTTGGCCTGTAATGCTGGGGCTTTCAGTAGCAGTTGGAATTCTCCCCCTCCCTTCCCCTCCCCTCCCCAGCAAGCATAGCCCTCAGGTTGCAGCCCTAGGCAATCCTACGTGCAAAGCTGGGCTGCAGCAGGGCACCCTGAGATAGGCCCAGGCCATCAGGACTTGGCCTCCTCCCACCTTTCTCGATTCTCCCTTCCCCTGGCCCCCAGAAAGTTGCCTTTTGGAACTGGTTCATCTTTTGGCCAGTTCCCAAGGCCCCCCAGACCTCCCAGGCAGCCATCAATTCCAGGAGTCAGGGTTTCCTGTCACCTGAAAAGACCCCCTAACTCGGCCTCCAGCTCTGCCACAGTCCAAGGCAGTCCAGAGGCCCAGCCACACACCCCAGCTTCATAGAAGAAAAACCACCCCTTGTCCTCTCTCCCAGGCTGGGGAAAGAAGAGCAAGTTTCTTCGAAGGCATGCCCCACCCCACCACACACCCTTCACTGAGATCCTGGAATACAGGGATGGGACAGAAAGCCTGCCCCTCCTCCACAGACCTGGAACCTGAGACCCAAAGAGGGAAGAGTCACTCAAGGTCACATGGCAGTCAGTGGCAAAGGTAGGGCTAGAATCCAGCACCCCCCCCCACATCCATCCCAGCCTCC | pathogenic | 130,499 |
Subsets and Splits
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