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 |
|---|---|---|---|---|---|
Variant at chromosome position 132897613, chromosome 9, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTG | benign | 152,679 |
Is the genetic mutation found on chromosome 9 at position 132897613, within the gene TSC1 (TSC complex subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTT | benign | 152,680 |
Gene mutation in TSC1 (TSC complex subunit 1) at chromosome 9, position 132897613—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTG | benign | 152,681 |
Does the variant impacting TSC1 (TSC complex subunit 1) on chromosome 9, position 132897613, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTNN | benign | 152,682 |
Benign or pathogenic: chromosome 9, position 132897613, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic? | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTNNNNN | benign | 152,683 |
Is chromosome 9, position 132897613, gene TSC1 (TSC complex subunit 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT | GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTNNNNNN | benign | 152,684 |
Variant on chromosome 9, at position 132897615, affecting TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCT | GCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAGAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT | benign | 152,686 |
Is the genetic variant on chromosome 9, position 132900821, gene TSC1 (TSC complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Tuberous_sclerosis_1'] | TCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGA | TCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGANNNN | pathogenic | 152,710 |
Does the variant impacting TSC1 (TSC complex subunit 1) on chromosome 9, position 132900827, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cortical_tubers', 'Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Multiple_renal_cysts', 'Seizure', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTC | GGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCNNNN | pathogenic | 152,712 |
The genetic variant at chromosome 9, position 132900829, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | ATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCAT | ATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCA | pathogenic | 152,713 |
Mutation at chromosome 9, position 132901610, within TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | GAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCA | GAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCAT | pathogenic | 152,727 |
Regarding the variant found on chromosome 9 at position 132901705 in gene TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAG | TTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGNN | benign | 152,745 |
Benign or pathogenic: chromosome 9, position 132903713, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGA | TCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGAN | pathogenic | 152,801 |
The mutation impacting TSC1 (TSC complex subunit 1) on chromosome 9 at position 132903746: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAG | GTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGNN | pathogenic | 152,807 |
A mutation at chromosome position 132903752 on chromosome 9 in gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACT | CCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCC | pathogenic | 152,810 |
Variant chromosome 9, position 132903776, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAA | TGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAATGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAN | pathogenic | 152,814 |
Variant at chromosome position 132904428, chromosome 9, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['TSC1-related_disorder', 'Tuberous_sclerosis_syndrome'] | ACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGG | ACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGN | pathogenic | 152,826 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 132905618, gene TSC1 (TSC complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTAT | GCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTA | pathogenic | 152,846 |
For chromosome 9, position 132905669, gene TSC1 (TSC complex subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Malignant_tumor_of_urinary_bladder', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | AGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCC | AGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCNN | pathogenic | 152,855 |
Regarding the variant at chromosome 9 and position 132905672, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'TSC1-related_disorder', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAA | TCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAANN | pathogenic | 152,856 |
Does the chromosome 9 mutation at position 132905686 within gene TSC1 (TSC complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTG | CCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGNNNN | pathogenic | 152,860 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132905855—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lymphangiomyomatosis', 'Tuberous_sclerosis_1'] | AGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAAC | AGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCC | pathogenic | 152,895 |
Evaluate this variant at chromosome 9, position 132905868, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCC | GATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCNN | pathogenic | 152,899 |
Regarding the variant at chromosome 9 and position 132905875, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTA | AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGG | pathogenic | 152,901 |
Chromosome 9, position 132905875, gene TSC1 (TSC complex subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTA | AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTANNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 152,902 |
Regarding the variant found on chromosome 9 at position 132905880 in gene TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAA | GAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAN | pathogenic | 152,906 |
Chromosome 9, position 132905996, gene TSC1 (TSC complex subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | ACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGT | ACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTNN | pathogenic | 152,926 |
Is the genetic change at chromosome 9, position 132906734, within gene TSC1 (TSC complex subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAAT | GTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATNNNN | pathogenic | 152,957 |
Considering the genetic mutation at chromosome 9, position 132906756, impacting TSC1 (TSC complex subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | AGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCA | AGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTACTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAN | pathogenic | 152,959 |
The genetic variant at chromosome 9, position 132906801, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_1'] | TCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTG | TCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTT | pathogenic | 152,962 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132907306—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1'] | CCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAAC | CCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACNN | pathogenic | 152,975 |
Mutation found at chromosome 9 position 132907335, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | GCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATC | GCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCNNNNNNNNNNNNNN | pathogenic | 152,980 |
Variant in gene TSC1 (TSC complex subunit 1), located at chromosome 9 position 132907361: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAG | TCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGNN | pathogenic | 152,984 |
Regarding the variant at chromosome 9 and position 132910562, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAA | GTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACAT | benign | 152,994 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132910576—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCA | CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTC | pathogenic | 152,995 |
Regarding the variant found on chromosome 9 at position 132910576 in gene TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCA | CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCAN | pathogenic | 152,996 |
Variant in gene TSC1 (TSC complex subunit 1), located at chromosome 9 position 132910596: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Tuberous_sclerosis_1'] | GCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTC | GCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCN | pathogenic | 153,002 |
Assess the variant on chromosome 9, position 132910632, impacting TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Tuberous_sclerosis_1'] | GGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAA | GGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAANN | pathogenic | 153,013 |
A genetic variant at chromosome 9, position 132910641, affecting gene TSC1 (TSC complex subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Tuberous_sclerosis_1'] | ATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACA | ATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAN | pathogenic | 153,017 |
Mutation at chromosome 9, position 132910670, within TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | TTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTA | TTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTANN | pathogenic | 153,021 |
A genetic alteration at chromosome 9, position 132911017, in gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Tuberous_sclerosis_1'] | ATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCA | ATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCC | pathogenic | 153,027 |
Variant chromosome 9, position 132911466, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s)? | pathogenic; ['Tuberous_sclerosis_1'] | GTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAA | GTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACA | pathogenic | 153,040 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132911476—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | GTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGT | GTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTG | pathogenic | 153,044 |
Chromosome 9, position 132911483, gene TSC1 (TSC complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | AATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAAC | AATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACN | pathogenic | 153,049 |
Clinical classification of chromosome 9, position 132911491, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGT | GATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTNN | pathogenic | 153,052 |
Clinical classification of chromosome 9, position 132911492, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cortical_dysplasia', 'Hereditary_cancer-predisposing_syndrome', 'Renal_cortical_cysts', 'Renal_insufficiency', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTA | ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGT | pathogenic | 153,053 |
Clinically, how would you classify the variant at chromosome 9, position 132911492, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTA | ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTANN | pathogenic | 153,054 |
Located at chromosome 9 position 132911516, the variant affecting gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTG | ATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGAGTATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTG | benign | 153,061 |
Determine if the mutation at chromosome 9, position 132912292 in gene TSC1 (TSC complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCC | TGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCNN | pathogenic | 153,079 |
Evaluate if the mutation on chromosome 9 at position 132912348 in TSC1 (TSC complex subunit 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1'] | CCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCAAAGTTCAACCAAAGGGATATATTTTATAGAATAACTATTATTACACCCCCTGAAA | CCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCAAAGTTCAACCAAAGGGATATATTTTATAGAATAACTATTATTACACCCCCTGAAAN | pathogenic | 153,093 |
A mutation at chromosome position 132912381 on chromosome 9 in gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCAAAGTTCAACCAAAGGGATATATTTTATAGAATAACTATTATTACACCCCCTGAAAAAGCATGCTTTTAGCAGATCGATGGTTGCCAGA | TAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCAAAGTTCAACCAAAGGGATATATTTTATAGAATAACTATTATTACACCCCCTGAAAAAGCATGCTTTTAGCAGATCGATGGTTGCCAGANN | pathogenic | 153,097 |
Gene mutation in TSC1 (TSC complex subunit 1) at chromosome 9, position 132921368—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Tuberous_sclerosis_1'] | AGCACAAAACAACTAAAGAAAATATCATAGAACTTGAAGAGCTTCCAGCTTGAACAATGAGAATAGATTCATACCAACATACATCACTGGAAATTTCAGAATATTATGACAACAAAGAGAACTCCCTACCAGCTCCCCTAGAGAAAAACACAGCAAATACAGATGATCAGAAATTCTAAGAGCAACATTGGAAGCAGGGTGGCAATGGAATAATGCCTTCAAATTACTGAATGCCTTCAAATTACCGACTCTCAACCTGTAAGTCTACACCAGCCAAAACACTGCATCCTTCCTCAAAAAGCTCCTAGAGGCTATGTCCTATTAAACAAGAGTAAACCAAGAAAGAAGACAAGATACAGGAAATGGGAGATCCTGCACAGGAGAGAGGCGAAGGAAAGCCCCAGGAGACTAGGATGACAGCTGGGTACTAGGCACAGACGAGAACCAGTTCGGATCAGAACAGCAGCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTC | AGCACAAAACAACTAAAGAAAATATCATAGAACTTGAAGAGCTTCCAGCTTGAACAATGAGAATAGATTCATACCAACATACATCACTGGAAATTTCAGAATATTATGACAACAAAGAGAACTCCCTACCAGCTCCCCTAGAGAAAAACACAGCAAATACAGATGATCAGAAATTCTAAGAGCAACATTGGAAGCAGGGTGGCAATGGAATAATGCCTTCAAATTACTGAATGCCTTCAAATTACCGACTCTCAACCTGTAAGTCTACACCAGCCAAAACACTGCATCCTTCCTCAAAAAGCTCCTAGAGGCTATGTCCTATTAAACAAGAGTAAACCAAGAAAGAAGACAAGATACAGGAAATGGGAGATCCTGCACAGGAGAGAGGCGAAGGAAAGCCCCAGGAGACTAGGATGACAGCTGGGTACTAGGCACAGACGAGAACCAGTTCGGATCAGAACAGCAGCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCN | pathogenic | 153,124 |
Is the genetic variant on chromosome 9, position 132921833, gene TSC1 (TSC complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAA | GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAAN | pathogenic | 153,141 |
Located at chromosome 9 position 132921833, the variant affecting gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAA | GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAANN | pathogenic | 153,142 |
A genetic variant at chromosome 9, position 132921894, affecting gene TSC1 (TSC complex subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Tuberous_sclerosis_1'] | GACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAG | GACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGN | pathogenic | 153,152 |
Considering the variant on chromosome 9, location 132921955, involving gene TSC1 (TSC complex subunit 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1'] | ACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGC | ACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAG | pathogenic | 153,169 |
Regarding the variant at chromosome 9 and position 132921966, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | TCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTC | TCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCAACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGT | pathogenic | 153,170 |
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132923472—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | GCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTA | GCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTANNN | pathogenic | 153,197 |
Clinical significance of chromosome 9, position 132925677, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome'] | CCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCA | CCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCANN | pathogenic | 153,221 |
Located at chromosome 9 position 132925688, the variant affecting gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Tuberous_sclerosis_1'] | CTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCC | CTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATTAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGC | pathogenic | 153,224 |
Chromosome 9, position 132925749, gene TSC1 (TSC complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGA | GTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGG | benign | 153,237 |
Benign or pathogenic: chromosome 9, position 132927264, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1'] | CTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAA | CTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAANNNNNNN | pathogenic | 153,262 |
Variant in gene TSC1 (TSC complex subunit 1), located at chromosome 9 position 132928798: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Tuberous_sclerosis_1'] | CTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAAGCAGACAGTCTTTTTTCAGCAAAAGAACTAAATACATACTATTTCCTTCTTGACAGTCTCATCAATGGCTAAGAGTTAGTATAGCTGGTTAGGTCACAAGTCTGTTAAGTCCAACATCTAGCATAAACTGGGGATCATTTCTCTGTTTTAGCATATACCTCTCATCTGAGACATCTAATTGCACACCCAAATACCACTGGCTACAGGGAGGTATCCATAGATGGGATCATCAGGGCAAATCTTCAAAAACTCACCCTTCAAAACCCAAGCTCTCTATGGTAGTAGAGCAGCTGCTTTATCTTGATATACAAAAAGCAGCTCATTCCCAAGTGTAACTATACACATTTACGATTTCTCCCCCACTTTGATCTCTGAGGCTATATTTGTTAAAACAAGTAACAACAGTTATCATTCATAAGCACTGTACACCTTTCACAAACATCATTGTATATACTCCTAATATGACCACCATGTAATTGGCACTTTTGTCCCCATTGTACAGGGAGCAGAATGGAGATCAAGCCATTTGTTCTGGGTCACAAAGCTAGCAAGAGGCAAAACCAGAGGAGAAAAACTGATATTGGAAGCTAGGTATGCCCGACTCCAAAGCCCCAAGCCCTTAAGTGTCACACTAAGCTAACCTGTGGTTTTGATCATCACAGCAAGTCTGTGATGTGATGTGATGTGGTGTGAGCAGGTATCATCCTTATTTTACACATGGGGATATGCATGCCCAAAAAGGATAACACTTCCTTTTCTTTCAGTAAGTGTAAGTAGCAGTTCTTAAGCTTCAATGTGCATCGAAACCACCTGGGATACTTGCTAGAAATGCAATACCTGGGCCCCTTCCAAAACTGTATTTTGGGCTCAGGAATCTATATTTTAATAAGCACTCCAGGTAATTCTTAAAGTGAGACACAAATTATTTTTGAGAAACACTATGATAAAGAAAAATCCAACTAAAGAGTTAAGCTGAGGCCGGATGTAGTGGCTGAGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCATAATGGGAGGCCGAGGCAGGCAGATCACCTAAGGTCAAGAGTTCGAGACCAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGACGGAGGTTGCAGTGAGTCAAGGTCATGCCACTGCACTCTAGCCTGGGCAACAAAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAGATAAGCTCCTTCTGCAAGAATGCCAAATTTAAATTAGCCATGACCCCAAAAACTGCCAGGTATTAACTTGCTATCATCTATATTCTTATTTAATTACAATCTTGTGACATTCACTGATTTTGGCTCTTAGTAAGTTAGAAGTTCATTTATCAGAAAAATCAATTAAAATGTCTAAATGCCTTTTTGATACCATGATATAGGAAGTTGCTGACTCATATCTATAAAT | CTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCAACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAAGCAGACAGTCTTTTTTCAGCAAAAGAACTAAATACATACTATTTCCTTCTTGACAGTCTCATCAATGGCTAAGAGTTAGTATAGCTGGTTAGGTCACAAGTCTGTTAAGTCCAACATCTAGCATAAACTGGGGATCATTTCTCTGTTTTAGCATATACCTCTCATCTGAGACATCTAATTGCACACCCAAATACCACTGGCTACAGGGAGGTATCCATAGATGGGATCATCAGGGCAAATCTTCAAAAACTCACCCTTCAAAACCCAAGCTCTCTATGGTAGTAGAGCAGCTGCTTTATCTTGATATACAAAAAGCAGCTCATTCCCAAGTGTAACTATACACATTTACGATTTCTCCCCCACTTTGATCTCTGAGGCTATATTTGTTAAAACAAGTAACAACAGTTATCATTCATAAGCACTGTACACCTTTCACAAACATCATTGTATATACTCCTAATATGACCACCATGTAATTGGCACTTTTGTCCCCATTGTACAGGGAGCAGAATGGAGATCAAGCCATTTGTTCTGGGTCACAAAGCTAGCAAGAGGCAAAACCAGAGGAGAAAAACTGATATTGGAAGCTAGGTATGCCCGACTCCAAAGCCCCAAGCCCTTAAGTGTCACACTAAGCTAACCTGTGGTTTTGATCATCACAGCAAGTCTGTGATGTGATGTGATGTGGTGTGAGCAGGTATCATCCTTATTTTACACATGGGGATATGCATGCCCAAAAAGGATAACACTTCCTTTTCTTTCAGTAAGTGTAAGTAGCAGTTCTTAAGCTTCAATGTGCATCGAAACCACCTGGGATACTTGCTAGAAATGCAATACCTGGGCCCCTTCCAAAACTGTATTTTGGGCTCAGGAATCTATATTTTAATAAGCACTCCAGGTAATTCTTAAAGTGAGACACAAATTATTTTTGAGAAACACTATGATAAAGAAAAATCCAACTAAAGAGTTAAGCTGAGGCCGGATGTAGTGGCTGAGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCATAATGGGAGGCCGAGGCAGGCAGATCACCTAAGGTCAAGAGTTCGAGACCAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGACGGAGGTTGCAGTGAGTCAAGGTCATGCCACTGCACTCTAGCCTGGGCAACAAAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAGATAAGCTCCTTCTGCAAGAATGCCAAATTTAAATTAGCCATGACCCCAAAAACTGCCAGGTATTAACTTGCTATCATCTATATTCTTATTTAATTACAATCTTGTGACATTCACTGATTTTGGCTCTTAGTAAGTTAGAAGTTCATTTATCAGAAAAATCAATTAAAATGTCTAAATGCCTTTTTGATACCATGATATAGGAAGTTGCTGACTCATATCTATAAA | pathogenic | 153,280 |
Determine if the mutation at chromosome 9, position 132928803 in gene TSC1 (TSC complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Isolated_focal_cortical_dysplasia_type_II'] | ACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAAGCAGACAGTCTTTTTTCAGCAAAAGAACTAAATACATACTATTTCCTTCTTGACAGTCTCATCAATGGCTAAGAGTTAGTATAGCTGGTTAGGTCACAAGTCTGTTAAGTCCAACATCTAGCATAAACTGGGGATCATTTCTCTGTTTTAGCATATACCTCTCATCTGAGACATCTAATTGCACACCCAAATACCACTGGCTACAGGGAGGTATCCATAGATGGGATCATCAGGGCAAATCTTCAAAAACTCACCCTTCAAAACCCAAGCTCTCTATGGTAGTAGAGCAGCTGCTTTATCTTGATATACAAAAAGCAGCTCATTCCCAAGTGTAACTATACACATTTACGATTTCTCCCCCACTTTGATCTCTGAGGCTATATTTGTTAAAACAAGTAACAACAGTTATCATTCATAAGCACTGTACACCTTTCACAAACATCATTGTATATACTCCTAATATGACCACCATGTAATTGGCACTTTTGTCCCCATTGTACAGGGAGCAGAATGGAGATCAAGCCATTTGTTCTGGGTCACAAAGCTAGCAAGAGGCAAAACCAGAGGAGAAAAACTGATATTGGAAGCTAGGTATGCCCGACTCCAAAGCCCCAAGCCCTTAAGTGTCACACTAAGCTAACCTGTGGTTTTGATCATCACAGCAAGTCTGTGATGTGATGTGATGTGGTGTGAGCAGGTATCATCCTTATTTTACACATGGGGATATGCATGCCCAAAAAGGATAACACTTCCTTTTCTTTCAGTAAGTGTAAGTAGCAGTTCTTAAGCTTCAATGTGCATCGAAACCACCTGGGATACTTGCTAGAAATGCAATACCTGGGCCCCTTCCAAAACTGTATTTTGGGCTCAGGAATCTATATTTTAATAAGCACTCCAGGTAATTCTTAAAGTGAGACACAAATTATTTTTGAGAAACACTATGATAAAGAAAAATCCAACTAAAGAGTTAAGCTGAGGCCGGATGTAGTGGCTGAGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCATAATGGGAGGCCGAGGCAGGCAGATCACCTAAGGTCAAGAGTTCGAGACCAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGACGGAGGTTGCAGTGAGTCAAGGTCATGCCACTGCACTCTAGCCTGGGCAACAAAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAGATAAGCTCCTTCTGCAAGAATGCCAAATTTAAATTAGCCATGACCCCAAAAACTGCCAGGTATTAACTTGCTATCATCTATATTCTTATTTAATTACAATCTTGTGACATTCACTGATTTTGGCTCTTAGTAAGTTAGAAGTTCATTTATCAGAAAAATCAATTAAAATGTCTAAATGCCTTTTTGATACCATGATATAGGAAGTTGCTGACTCATATCTATAAATAAAAA | ACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAAGCAGACAGTCTTTTTTCAGCAAAAGAACTAAATACATACTATTTCCTTCTTGACAGTCTCATCAATGGCTAAGAGTTAGTATAGCTGGTTAGGTCACAAGTCTGTTAAGTCCAACATCTAGCATAAACTGGGGATCATTTCTCTGTTTTAGCATATACCTCTCATCTGAGACATCTAATTGCACACCCAAATACCACTGGCTACAGGGAGGTATCCATAGATGGGATCATCAGGGCAAATCTTCAAAAACTCACCCTTCAAAACCCAAGCTCTCTATGGTAGTAGAGCAGCTGCTTTATCTTGATATACAAAAAGCAGCTCATTCCCAAGTGTAACTATACACATTTACGATTTCTCCCCCACTTTGATCTCTGAGGCTATATTTGTTAAAACAAGTAACAACAGTTATCATTCATAAGCACTGTACACCTTTCACAAACATCATTGTATATACTCCTAATATGACCACCATGTAATTGGCACTTTTGTCCCCATTGTACAGGGAGCAGAATGGAGATCAAGCCATTTGTTCTGGGTCACAAAGCTAGCAAGAGGCAAAACCAGAGGAGAAAAACTGATATTGGAAGCTAGGTATGCCCGACTCCAAAGCCCCAAGCCCTTAAGTGTCACACTAAGCTAACCTGTGGTTTTGATCATCACAGCAAGTCTGTGATGTGATGTGATGTGGTGTGAGCAGGTATCATCCTTATTTTACACATGGGGATATGCATGCCCAAAAAGGATAACACTTCCTTTTCTTTCAGTAAGTGTAAGTAGCAGTTCTTAAGCTTCAATGTGCATCGAAACCACCTGGGATACTTGCTAGAAATGCAATACCTGGGCCCCTTCCAAAACTGTATTTTGGGCTCAGGAATCTATATTTTAATAAGCACTCCAGGTAATTCTTAAAGTGAGACACAAATTATTTTTGAGAAACACTATGATAAAGAAAAATCCAACTAAAGAGTTAAGCTGAGGCCGGATGTAGTGGCTGAGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCATAATGGGAGGCCGAGGCAGGCAGATCACCTAAGGTCAAGAGTTCGAGACCAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGACGGAGGTTGCAGTGAGTCAAGGTCATGCCACTGCACTCTAGCCTGGGCAACAAAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAGATAAGCTCCTTCTGCAAGAATGCCAAATTTAAATTAGCCATGACCCCAAAAACTGCCAGGTATTAACTTGCTATCATCTATATTCTTATTTAATTACAATCTTGTGACATTCACTGATTTTGGCTCTTAGTAAGTTAGAAGTTCATTTATCAGAAAAATCAATTAAAATGTCTAAATGCCTTTTTGATACCATGATATAGGAAGTTGCTGACTCATATCTATAAATAAAAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 153,282 |
Is the variant located on chromosome 9 at position 132944529, gene TSC1 (TSC complex subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGTTTCATCTCACGAATGAAACCAGGCATGCACAGAAGGCATCATATTACACCACAACAGTAGCAGTATCAGTTTTTACTCTTAACCCAGTGAGGAAGAGGACAACTGAGTCACAGGACCTGAAGCACTCTAATTTTATGGAAACAAGAAGGCTGGTAGCCACCTGCTTTCTAACCAGGAATTTAGGAACGTACCAAGTGTTTATGACACCAGGAAATGCATGCAGCAGAGAAAGTTTACATCATCTGCCCTTCTAGGCACGTGATATAAGAGTGTTTTGGATAAGATATTAACTTTAGTAAGAGGATATTTTCCGTTTACATCTTCTATAAATACCCCTTAAGTTTACACCAGGTGGTTAGAGGAAGATTCTGCAGCTCCCTAGGGCAATAGCAAAGAATGTTTCACTGTTTCTGAGGAGCCTCATTTGCCTGATGCATGACTGTTAAAGGTGCATTTCCCTACACAACCCTAAATCAGTTTTCACATTTGCATATTCCAGATTTACTCAGGAATGTTCAATTTAAGAATCACAGGTGGTTGCTCGGTAAATCAAAGGCTCCCCAAAGATTAGGTTTTATAATGCTTCCTGAAATTTACAGCTCCACTTTGCCGGCCTGTTTGAATTCAGATGACTCCAAGTTGATCCCAAAATTATAAATCAAAGTATCTCAGAAGAGTATTATTCTATTTTAGCACTTTTATAGCTTACTCTATGCAACGTGAAGTGTTATTTGTATGCTTTCTATTTAAAAAAAAAAAAAAGCCAGCAAGGATTTTAGCAGGACTTCTTTCTTCAGTAAACTCATCAGTTTTATTAAACTATCAAATACTTTTTAGCCTAATTTAGACTAACAAGTTCACATGCACAACACTGCCATCCCAAACAAAAGCTAAGGCGGATAAGCCAAGTGCATCCCCCCACTTCAACATTAAACAGACACACGTGCATAAACCTTGGCTAAATGATAAATTTTAATCACTTACAGGCCAGCTTTGATCAAATAACAGATAAATTTAAGAGTCATATCTTTGGAGTCAGTCAGATCCCAGCAGTTCCAGTCCTGGCTCAGATACAATTGGGGTGTGAACTTAGGCAAAGTACCCTGCTCTCTCCGGGCCTCAGTTTCTTCATTTGAGAAGATTGGAGGTGTTAACAGTGGCTGCCTCTTCTCTTTGTCGTGAGGACCAAAGGAGATAATGACTGCCAAGCACTTTCACAGTGCCTGGCACACAGAGAGCACTCCATTAACGTTAGCTGTTGTTCTTAGGAGGACCGCGTCCCCTCCCAAGTCCTCACCACACATCCAAAACACACAAAGCAAAACTCTTTAACAGGAAACACAAAGAAAGAGCTTTAATTCTACAAGGTCCCTCCGATTGCAGGCTCTTCATCCTCCAGTTCCTCAAATGAATGAATGAACGCCTAGGAGGGGCTCTGCAAATAGCTGTCTCTTAGGAATCCCCTTTGCCCACTTTAAGGTAACTGTCTTTCACCACCAATTAAACACCCACAAGTACACCCAGAGCGAGTCATGCAAATTTCAGCGGAGACACCGAATCCAGGCGAGTCCTTGATCCCCACAGGCGACCTCCATTCATTCTCCACGCCCCTATACCCCGACCCCTCTCTTTAAGTTCTGGGACCAGCCCCACCCTCGCGACCCTTCCCCTCCCGCCAAGCGTCTCTACCCTGCCCTCCGCACCTAGCGTGAACCTGTCACCCCACCAAGTGAGGGACTGACGAAGGGGCCCACCTCGCCCCTGCCCGAGGGACCGAGGCCCAGGGTGCAGCCGTCCCCTCGGGGGCCAAGGAGGGGCGAAGTGCTCCGTCCGGCTCGCCTCTCCTCCCCAGGGACCCGCCAGTCCCGGCCGGGCCAGCCGGAGATAGCGTGTAATAAGAGGGAGGGGAGAGCTCTCCGAACCCCCCTTCCCCGGGATCCCTACCAAGCAAGTGAGTCTCTTGCTCCAGCCCCTCCGAGCCTCCCCGGCTGGAGTCATGGTGCCGGGGCTGCCCCAGGAAGCCCCCATAAAAAGGAGGGGGAGACACCCCCATACTCACCCACCGTCTCCTCCCCCTCAGCTGTTTACCTCACAGTCCCTCCAGCCTACAGGGCGCCGCCATCTTGGACGTACAGCACCTCCCCCGTCGTGAAAGGGCCAAGGCCGACGGCGGCCTCCGCCACGAAAAAGAGTCCCCCTCCGGACCTCCCCTCCTTCTCGAAAGGAAGGATAGACGGCCGCGCTCGGCAGCCCCGCCGGAAGGAAGAGGCTCTTCCACTCATAACTGACGATGTGGGTTGGACGAGAAAAAAAGTAAGGAGGGTTTTTATGGAGGGGGGCGGGGCCGGGCGGAAGGATCCGAAAGGAGGCTGCGAAGAGATCTTGTGACTCCGCGAAGGAGGCAAAAAGAAGGGCCGGCGCGGCGGGAGGAGCCACGCGAGAGCCCGAGGGGGCGGGGCGGGCGGTCACGTGACTGGCGGGCGGGGGGACGCGGCGGAGAGGCGTAAACAAGCTGGCGGCGCCTGGGTGTGGTTGGAGCGCCCTGCCCCTGCCCCCCGAGTCGTTTCTGCCCTTCGCTTGCGTGGCGCCCTCCGAGGGTCTCTCTGTGGGCGGCCTCAGAGCAGCGATCCTGTTTCCCAAGGAGCTGCTGGGGCCCGCGTGGGTGAAGGGCCTGCTTGGGAGCTTTGGAGTTGCAGCTCACCTGGGAAGGGGCGGAAAGCTGCGGGCCAGGGCAGCCCTCCTTCCTGGGCTAAACATTTTCAGAAGCCCGCCTCCGGGATTGCGGGGGACCCCCCTGGCTTCTGCCTTCAAGTAGCTCACACTTCACACCTACTCATGACATCTAGGGGAAACCAGCCCTAATAGGAGACAGCTTGAAAATCAGAACGCCTTATTCCGTTTCCTGCTGAAACAAGGCTTTAAGTCCTCCAAGCCTCAGTTTCTTCCTCTGTGAAATGGGCATAATGACATCTGTGACGTGAAGAATCAAGGAGATGAAGTATGGACAGCGTTTAGCCCAGAGTCCTGCGCCTAGTAAATGCTCACTCACTAGATAGGTGGCCTTTATTGCGAGGCTGAGTATGATGGGCTCCATCCAGCACGAACACAAAGCCCTGTGAGAGGAGGCAGAGTGAGATGAAGTCGAACTGTGGGATATGAAAGGCATTTTGAAGGAGTAGGCATCAGGTTGGGTTTTAAAGGAAATGTAGGTTTTGTGAAATACTAGGTCGGTGCAAAAGTCATCACGGTTTTTACCATTAAAACCGCGATGACTTTTGCATCAACCTAATAGAACCAGGCGAGGCGGCTCGGGAGAGAAGGCCATTCCAGGCAGAGGGAACCAAAGGAGCAAGAGCCTAGGGGCAAAAAAGTGTTGGGTGAGTTATGGGAATAACAGGTTTTGTCATGGGAACCAATTGGGTCACAGTGCAAGGCAGCCATGGTTAAGGGGGGCCAGGTGTGTGAGTAGCCAGCACCGTGGGTGCCTTCAGAATTCTGAAAAGGCCCTGGATGGTATCGGGTAGAGCCGCTGCTAGTCAGTATAGGGCCTTGGTGAGAATTAGAAAAATGGCACCCCTGGGCTGTATTTTGGCCCCTATCCACCAGCCCCAAACCCTCCTGGGCCCTTGAGCAGTGAACAACCTTTATAACCATACGTCTAGAGCCACGAAGGCTTAGGAGGGAGGTGAAAATTGAACTGATGATTCCTCTGTTCTAACACAGTCGCTGGGGGGAAGCTAAGAGTTCTAGATTCAAACAGACCAGAGTTTGAATGTAGGTTTCAGCCATCATGTTCTAACTGGATGAGCCTTAGTCTCCTCACCTGCAACATAGGGCTAATAATAATGCTAGTTCATGGGGATTTGGGGTGAAGTCAGTGAGTCATTAAGCTCTAAGTGGCACAGAGCCTACTCCAGTTAATGTTATTTTTGATAACTGTTAAGTGCCAGCTGTCAGCATCCATCACTTCCAGAAACGGGTCCACCAAACACTAAATTCTTCTGTGTCACCACCCAAGCATAGTCTGCATGGGGTCCAGAGATGGAAAGGTCGAGGGAAACGGGGAAGGGTCTGGGTTCTCTCAGTTCCACCA | AGTTTCATCTCACGAATGAAACCAGGCATGCACAGAAGGCATCATATTACACCACAACAGTAGCAGTATCAGTTTTTACTCTTAACCCAGTGAGGAAGAGGACAACTGAGTCACAGGACCTGAAGCACTCTAATTTTATGGAAACAAGAAGGCTGGTAGCCACCTGCTTTCTAACCAGGAATTTAGGAACGTACCAAGTGTTTATGACACCAGGAAATGCATGCAGCAGAGAAAGTTTACATCATCTGCCCTTCTAGGCACGTGATATAAGAGTGTTTTGGATAAGATATTAACTTTAGTAAGAGGATATTTTCCGTTTACATCTTCTATAAATACCCCTTAAGTTTACACCAGGTGGTTAGAGGAAGATTCTGCAGCTCCCTAGGGCAATAGCAAAGAATGTTTCACTGTTTCTGAGGAGCCTCATTTGCCTGATGCATGACTGTTAAAGGTGCATTTCCCTACACAACCCTAAATCAGTTTTCACATTTGCATATTCCAGATTTACTCAGGAATGTTCAATTTAAGAATCACAGGTGGTTGCTCGGTAAATCAAAGGCTCCCCAAAGATTAGGTTTTATAATGCTTCCTGAAATTTACAGCTCCACTTTGCCGGCCTGTTTGAATTCAGATGACTCCAAGTTGATCCCAAAATTATAAATCAAAGTATCTCAGAAGAGTATTATTCTATTTTAGCACTTTTATAGCTTACTCTATGCAACGTGAAGTGTTATTTGTATGCTTTCTATTTAAAAAAAAAAAAAAGCCAGCAAGGATTTTAGCAGGACTTCTTTCTTCAGTAAACTCATCAGTTTTATTAAACTATCAAATACTTTTTAGCCTAATTTAGACTAACAAGTTCACATGCACAACACTGCCATCCCAAACAAAAGCTAAGGCGGATAAGCCAAGTGCATCCCCCCACTTCAACATTAAACAGACACACGTGCATAAACCTTGGCTAAATGATAAATTTTAATCACTTACAGGCCAGCTTTGATCAAATAACAGATAAATTTAAGAGTCATATCTTTGGAGTCAGTCAGATCCCAGCAGTTCCAGTCCTGGCTCAGATACAATTGGGGTGTGAACTTAGGCAAAGTACCCTGCTCTCTCCGGGCCTCAGTTTCTTCATTTGAGAAGATTGGAGGTGTTAACAGTGGCTGCCTCTTCTCTTTGTCGTGAGGACCAAAGGAGATAATGACTGCCAAGCACTTTCACAGTGCCTGGCACACAGAGAGCACTCCATTAACGTTAGCTGTTGTTCTTAGGAGGACCGCGTCCCCTCCCAAGTCCTCACCACACATCCAAAACACACAAAGCAAAACTCTTTAACAGGAAACACAAAGAAAGAGCTTTAATTCTACAAGGTCCCTCCGATTGCAGGCTCTTCATCCTCCAGTTCCTCAAATGAATGAATGAACGCCTAGGAGGGGCTCTGCAAATAGCTGTCTCTTAGGAATCCCCTTTGCCCACTTTAAGGTAACTGTCTTTCACCACCAATTAAACACCCACAAGTACACCCAGAGCGAGTCATGCAAATTTCAGCGGAGACACCGAATCCAGGCGAGTCCTTGATCCCCACAGGCGACCTCCATTCATTCTCCACGCCCCTATACCCCGACCCCTCTCTTTAAGTTCTGGGACCAGCCCCACCCTCGCGACCCTTCCCCTCCCGCCAAGCGTCTCTACCCTGCCCTCCGCACCTAGCGTGAACCTGTCACCCCACCAAGTGAGGGACTGACGAAGGGGCCCACCTCGCCCCTGCCCGAGGGACCGAGGCCCAGGGTGCAGCCGTCCCCTCGGGGGCCAAGGAGGGGCGAAGTGCTCCGTCCGGCTCGCCTCTCCTCCCCAGGGACCCGCCAGTCCCGGCCGGGCCAGCCGGAGATAGCGTGTAATAAGAGGGAGGGGAGAGCTCTCCGAACCCCCCTTCCCCGGGATCCCTACCAAGCAAGTGAGTCTCTTGCTCCAGCCCCTCCGAGCCTCCCCGGCTGGAGTCATGGTGCCGGGGCTGCCCCAGGAAGCCCCCATAAAAAGGAGGGGGAGACACCCCCCATACTCACCCACCGTCTCCTCCCCCTCAGCTGTTTACCTCACAGTCCCTCCAGCCTACAGGGCGCCGCCATCTTGGACGTACAGCACCTCCCCCGTCGTGAAAGGGCCAAGGCCGACGGCGGCCTCCGCCACGAAAAAGAGTCCCCCTCCGGACCTCCCCTCCTTCTCGAAAGGAAGGATAGACGGCCGCGCTCGGCAGCCCCGCCGGAAGGAAGAGGCTCTTCCACTCATAACTGACGATGTGGGTTGGACGAGAAAAAAAGTAAGGAGGGTTTTTATGGAGGGGGGCGGGGCCGGGCGGAAGGATCCGAAAGGAGGCTGCGAAGAGATCTTGTGACTCCGCGAAGGAGGCAAAAAGAAGGGCCGGCGCGGCGGGAGGAGCCACGCGAGAGCCCGAGGGGGCGGGGCGGGCGGTCACGTGACTGGCGGGCGGGGGGACGCGGCGGAGAGGCGTAAACAAGCTGGCGGCGCCTGGGTGTGGTTGGAGCGCCCTGCCCCTGCCCCCCGAGTCGTTTCTGCCCTTCGCTTGCGTGGCGCCCTCCGAGGGTCTCTCTGTGGGCGGCCTCAGAGCAGCGATCCTGTTTCCCAAGGAGCTGCTGGGGCCCGCGTGGGTGAAGGGCCTGCTTGGGAGCTTTGGAGTTGCAGCTCACCTGGGAAGGGGCGGAAAGCTGCGGGCCAGGGCAGCCCTCCTTCCTGGGCTAAACATTTTCAGAAGCCCGCCTCCGGGATTGCGGGGGACCCCCCTGGCTTCTGCCTTCAAGTAGCTCACACTTCACACCTACTCATGACATCTAGGGGAAACCAGCCCTAATAGGAGACAGCTTGAAAATCAGAACGCCTTATTCCGTTTCCTGCTGAAACAAGGCTTTAAGTCCTCCAAGCCTCAGTTTCTTCCTCTGTGAAATGGGCATAATGACATCTGTGACGTGAAGAATCAAGGAGATGAAGTATGGACAGCGTTTAGCCCAGAGTCCTGCGCCTAGTAAATGCTCACTCACTAGATAGGTGGCCTTTATTGCGAGGCTGAGTATGATGGGCTCCATCCAGCACGAACACAAAGCCCTGTGAGAGGAGGCAGAGTGAGATGAAGTCGAACTGTGGGATATGAAAGGCATTTTGAAGGAGTAGGCATCAGGTTGGGTTTTAAAGGAAATGTAGGTTTTGTGAAATACTAGGTCGGTGCAAAAGTCATCACGGTTTTTACCATTAAAACCGCGATGACTTTTGCATCAACCTAATAGAACCAGGCGAGGCGGCTCGGGAGAGAAGGCCATTCCAGGCAGAGGGAACCAAAGGAGCAAGAGCCTAGGGGCAAAAAAGTGTTGGGTGAGTTATGGGAATAACAGGTTTTGTCATGGGAACCAATTGGGTCACAGTGCAAGGCAGCCATGGTTAAGGGGGGCCAGGTGTGTGAGTAGCCAGCACCGTGGGTGCCTTCAGAATTCTGAAAAGGCCCTGGATGGTATCGGGTAGAGCCGCTGCTAGTCAGTATAGGGCCTTGGTGAGAATTAGAAAAATGGCACCCCTGGGCTGTATTTTGGCCCCTATCCACCAGCCCCAAACCCTCCTGGGCCCTTGAGCAGTGAACAACCTTTATAACCATACGTCTAGAGCCACGAAGGCTTAGGAGGGAGGTGAAAATTGAACTGATGATTCCTCTGTTCTAACACAGTCGCTGGGGGGAAGCTAAGAGTTCTAGATTCAAACAGACCAGAGTTTGAATGTAGGTTTCAGCCATCATGTTCTAACTGGATGAGCCTTAGTCTCCTCACCTGCAACATAGGGCTAATAATAATGCTAGTTCATGGGGATTTGGGGTGAAGTCAGTGAGTCATTAAGCTCTAAGTGGCACAGAGCCTACTCCAGTTAATGTTATTTTTGATAACTGTTAAGTGCCAGCTGTCAGCATCCATCACTTCCAGAAACGGGTCCACCAAACACTAAATTCTTCTGTGTCACCACCCAAGCATAGTCTGCATGGGGTCCAGAGATGGAAAGGTCGAGGGAAACGGGGAAGGGTCTGGGTTCTCTCAGTTCCACC | benign | 153,302 |
Variant on chromosome 9, at position 133071270, affecting CEL (carboxyl ester lipase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_8'] | ACCGAGATTGCCCTAGCCCAGCACAGAGCCAATGCCAAGTGAGGATCTGGGCAGCGGGTGGCTCCTGGGGGCCTTCCTGGGGTGCTGCACCTTCCAGCCGAGGCCTCGCTGTGGGTGGCTCTCAGGTGTCTGGGTTGTCTGGGAAAGTGGTGCTTGAGTCCCCACCTGTGCCTGCCTGATCCACTTTGCTGAGGCCTGGCAAGACTTGAGGGCCTCTTTTTACCTCCCAGCCTACAGGGCTTTACAAACCCTATGATCCTCTGCCCTGCTCAGCCCTGCACCCCATGGTCCTTCCCACTGGAGAGTTCTTGAGCTACCTTCCATCCCCCATGCTGTGTGCACTGAGAGAACACTGGACAATAGTTTCTATCCACTGACTCTTATGGGCCTCAACTTTGCCCATAATTTCAGCCCACCACCACATTAAAAATCTTCATGTAATAATAGCCAATTATAATAAAAAATAAGGCCAGACACAGTAGCTCATGCCTGTAATCCCAGCACATTGGGAGGTCAAGGTGGGAGGATCACTTGAGGTCAGGAGTCTGAGACTAGTCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGCATGGTGGTGCATGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGCAGAATTGATTGACCCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCAGGGGCAACAGAGTGAGACTGTGTCTCGAATAAATAAGTAAATAAATAATAAAAATAAAAAATAAGTTAGGAATACGAAAAAGATAGGAAGATAAAAGTATACCTAGAAGTCTAGGATGAAAGCTTTGCAGCAACTAAGCAGTACATTTAGCTGTGAGCCTCCTTTCAGTCAAGGCAAAAAGGGAAACAGTTGAGGGCCTATACCTTGTCCAATCTAATTGAAGAATGCACATTCACTTGGAGAGCAAAATATTTCTTGATACTGAATTCTAGAAGGAAGGTGCCTCACAATGTTTTGTGGAGGTGAAGTATAAATTCAGCTGAAATTGTGGAACCCATGAATCCATGAATTTGGTTCTCAGCTTTCCCTTCCCTGGGTGTAAGAAGCCCCATCTCTTCATGTGAATTCCCCAGACACTTCCCTGCCCACTGCCCGGGACCTCCCTCCAAGTCCGGTCTCTGGGCTGATCGGTCCCCAGTGAGCACCCTGCCTACTTGGGTGGTCTCTCCCCTCCAGGAGTGCCAAGACCTACGCCTACCTGTTTTCCCATCCCTCTCGGATGCCCGTCTACCCCAAATGGGTGGGGGCCGACCATGCAGATGACATTCAGTACGTTTTCGGGAAGCCCTTCGCCACCCCCACGGGCTACCGGCCCCAAGACAGGACAGTCTCTAAGGCCATGATCGCCTACTGGACCAACTTTGCCAAAACAGGGTAAGACGTGGGTTGAGTGCAGGGCGGAGGGCCACAGCCGAGAAGGGCCTCCCACCACGAGGCCTTGTTCCCTCATTTGCCAGTGGAGGGACTTTGGGCAAGTCACTTAACCTCCCCCTGCATCGGAATCCATGTGTGTTTGAGGATGAGAGTTACTGGCAGAGCCCCAAGCCCATGCACGTGCACAGCCAGTGCCCAGTATGCAGTGAGGGGCATGGTGCCCAGGGCCAGCTCAGAGGGCGGGGATGGCTCAGGCGTGCAGGTGGAGAGCAGGGCTTCAGCCCCCTGGGAGTCCCCAGCCCCTGCACAGCCTCTTCTCACTCTGCAGGGACCCCAACATGGGCGACTCGGCTGTGCCCACACACTGGGAACCCTACACTACGGAAAACAGCGGCTACCTGGAGATCACCAAGAAGATGGGCAGCAGCTCCATGAAGCGGAGCCTGAGAACCAACTTCCTGCGCTACTGGACCCTCACCTATCTGGCGCTGCCCACAGTGACCGACCAGGAGGCCACCCCTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACAGATGACTCCAAGGAAGCTCAGATGCCTGCAGTCATTAGGTTTTAGCGTCCCATGAGCCTTGGTATCAAGAGGCCACAAGAGTGGGACCCCAGGGGCTCCCCTCCCATCTTGAGCTCTTCCTGAATAAAGCCTCATACCCCTGTCGGTGTCTTTCTTTGCTCCCAAGGCTAAGCTGCAGGATCTGCCTGGCAATTGCAGGCTTGCTTTTTCATGCCCAGCTCATCTTATCTTTGGCCAGAGGCGGCCTCAGGTTGACCTCTGTAGTCCTTTGACTCAACCCTTGGGTCTTGGGCACCTTCCTTACTTGCAGCCACCATGATGGTGCAGGCTCCAGCCCCTCCCTGGCATTTCCTGCCATGGACCCGGCCCAACCATCTCCGCAGGGTGCACTCCTTCGTCGGTGTGAATATGGTGTTTAGAGACCCCAATCTGGTCACCAGGGGTGGTGCTTGCTCCTGGGATTTCGTTACTGCTAGGGCTTTGGAAGAGACAGAGCCAGGAAATAAGTATTTTTTTTTAACCAGTAAAAAAAAAAAAAAGTATGAGGCCGGGCACAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAAATTAGCCAGGTGTGGTAGTGCGCACCTGAGGTCCCAGCTGAGGCAGGAGAATCACTTGAGCTCGGGAGGTAGAGGCTGCAGTGAGCCGAGATCGCACCACTGCACTTGAGCCTGGGCAACAGAGCAAGGCACCATCTCAAATAATAATAAAAGTATGAATTCATACAGGTATTTCCCAGTTGTAAGACTGTCAGGTTTTACTTCTCTCATTTTACACTTGTTTCTTTCTCCGCCTATGCTGAAAGTCTGGGTTCGACAGCACCAACATAATTGTTTATGTTCTTTTTCCTATAACATACATATGCTAGTTTTGAAATATAAGATATAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAAAATACAAAAAAAGTTAGCCAGGCACGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGGGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAATATAAGATATTGCAATAAATCATATGAGTTACATTTAAAGTACATGAATTTAAATAAATTATAAATTATATAAAGTAATATATGATAAAATATTAAGACTACTAAGGATCATTTAAGATCGTTTTGCTCATTCTCCTTAAATTATCCCACAGAATAAACAATTGTGCCTCTAGGTCCCTTAAGTAACTCTGTGGTTACTTAATTGGTAGATTAAGCCATCTACCGATACACAGTTAGAAGTTTGGGGTTTTTTTAATCATGCAGATGTAGACACTGACCAAAGACTTCTTG | ACCGAGATTGCCCTAGCCCAGCACAGAGCCAATGCCAAGTGAGGATCTGGGCAGCGGGTGGCTCCTGGGGGCCTTCCTGGGGTGCTGCACCTTCCAGCCGAGGCCTCGCTGTGGGTGGCTCTCAGGTGTCTGGGTTGTCTGGGAAAGTGGTGCTTGAGTCCCCACCTGTGCCTGCCTGATCCACTTTGCTGAGGCCTGGCAAGACTTGAGGGCCTCTTTTTACCTCCCAGCCTACAGGGCTTTACAAACCCTATGATCCTCTGCCCTGCTCAGCCCTGCACCCCATGGTCCTTCCCACTGGAGAGTTCTTGAGCTACCTTCCATCCCCCATGCTGTGTGCACTGAGAGAACACTGGACAATAGTTTCTATCCACTGACTCTTATGGGCCTCAACTTTGCCCATAATTTCAGCCCACCACCACATTAAAAATCTTCATGTAATAATAGCCAATTATAATAAAAAATAAGGCCAGACACAGTAGCTCATGCCTGTAATCCCAGCACATTGGGAGGTCAAGGTGGGAGGATCACTTGAGGTCAGGAGTCTGAGACTAGTCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGCATGGTGGTGCATGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGCAGAATTGATTGACCCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCAGGGGCAACAGAGTGAGACTGTGTCTCGAATAAATAAGTAAATAAATAATAAAAATAAAAAATAAGTTAGGAATACGAAAAAGATAGGAAGATAAAAGTATACCTAGAAGTCTAGGATGAAAGCTTTGCAGCAACTAAGCAGTACATTTAGCTGTGAGCCTCCTTTCAGTCAAGGCAAAAAGGGAAACAGTTGAGGGCCTATACCTTGTCCAATCTAATTGAAGAATGCACATTCACTTGGAGAGCAAAATATTTCTTGATACTGAATTCTAGAAGGAAGGTGCCTCACAATGTTTTGTGGAGGTGAAGTATAAATTCAGCTGAAATTGTGGAACCCATGAATCCATGAATTTGGTTCTCAGCTTTCCCTTCCCTGGGTGTAAGAAGCCCCATCTCTTCATGTGAATTCCCCAGACACTTCCCTGCCCACTGCCCGGGACCTCCCTCCAAGTCCGGTCTCTGGGCTGATCGGTCCCCAGTGAGCACCCTGCCTACTTGGGTGGTCTCTCCCCTCCAGGAGTGCCAAGACCTACGCCTACCTGTTTTCCCATCCCTCTCGGATGCCCGTCTACCCCAAATGGGTGGGGGCCGACCATGCAGATGACATTCAGTACGTTTTCGGGAAGCCCTTCGCCACCCCCACGGGCTACCGGCCCCAAGACAGGACAGTCTCTAAGGCCATGATCGCCTACTGGACCAACTTTGCCAAAACAGGGTAAGACGTGGGTTGAGTGCAGGGCGGAGGGCCACAGCCGAGAAGGGCCTCCCACCACGAGGCCTTGTTCCCTCATTTGCCAGTGGAGGGACTTTGGGCAAGTCACTTAACCTCCCCCTGCATCGGAATCCATGTGTGTTTGAGGATGAGAGTTACTGGCAGAGCCCCAAGCCCATGCACGTGCACAGCCAGTGCCCAGTATGCAGTGAGGGGCATGGTGCCCAGGGCCAGCTCAGAGGGCGGGGATGGCTCAGGCGTGCAGGTGGAGAGCAGGGCTTCAGCCCCCTGGGAGTCCCCAGCCCCTGCACAGCCTCTTCTCACTCTGCAGGGACCCCAACATGGGCGACTCGGCTGTGCCCACACACTGGGAACCCTACACTACGGAAAACAGCGGCTACCTGGAGATCACCAAGAAGATGGGCAGCAGCTCCATGAAGCGGAGCCTGAGAACCAACTTCCTGCGCTACTGGACCCTCACCTATCTGGCGCTGCCCACAGTGACCGACCAGGAGGCCACCCCTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACAGATGACTCCAAGGAAGCTCAGATGCCTGCAGTCATTAGGTTTTAGCGTCCCATGAGCCTTGGTATCAAGAGGCCACAAGAGTGGGACCCCAGGGGCTCCCCTCCCATCTTGAGCTCTTCCTGAATAAAGCCTCATACCCCTGTCGGTGTCTTTCTTTGCTCCCAAGGCTAAGCTGCAGGATCTGCCTGGCAATTGCAGGCTTGCTTTTTCATGCCCAGCTCATCTTATCTTTGGCCAGAGGCGGCCTCAGGTTGACCTCTGTAGTCCTTTGACTCAACCCTTGGGTCTTGGGCACCTTCCTTACTTGCAGCCACCATGATGGTGCAGGCTCCAGCCCCTCCCTGGCATTTCCTGCCATGGACCCGGCCCAACCATCTCCGCAGGGTGCACTCCTTCGTCGGTGTGAATATGGTGTTTAGAGACCCCAATCTGGTCACCAGGGGTGGTGCTTGCTCCTGGGATTTCGTTACTGCTAGGGCTTTGGAAGAGACAGAGCCAGGAAATAAGTATTTTTTTTTAACCAGTAAAAAAAAAAAAAAGTATGAGGCCGGGCACAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAAATTAGCCAGGTGTGGTAGTGCGCACCTGAGGTCCCAGCTGAGGCAGGAGAATCACTTGAGCTCGGGAGGTAGAGGCTGCAGTGAGCCGAGATCGCACCACTGCACTTGAGCCTGGGCAACAGAGCAAGGCACCATCTCAAATAATAATAAAAGTATGAATTCATACAGGTATTTCCCAGTTGTAAGACTGTCAGGTTTTACTTCTCTCATTTTACACTTGTTTCTTTCTCCGCCTATGCTGAAAGTCTGGGTTCGACAGCACCAACATAATTGTTTATGTTCTTTTTCCTATAACATACATATGCTAGTTTTGAAATATAAGATATAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAAAATACAAAAAAAGTTAGCCAGGCACGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGGGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAATATAAGATATTGCAATAAATCATATGAGTTACATTTAAAGTACATGAATTTAAATAAATTATAAATTATATAAAGTAATATATGATAAAATATTAAGACTACTAAGGATCATTTAAGATCGTTTTGCTCATTCTCCTTAAATTATCCCACAGAATAAACAATTGTGCCTCTAGGTCCCTTAAGTAACTCTGTGGTTACTTAATTGGTAGATTAAGCCATCTACCGATACACAGTTAGAAGTTTGGGGTTTTTTTAATCATGCAGATGTAGACACTGACCAAAGACTTCTTGN | pathogenic | 153,370 |
Variant on chromosome 9, at position 133351945, affecting SURF1 (SURF1 cytochrome c oxidase assembly factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATC | AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAAT | pathogenic | 153,397 |
Variant at chromosome 9, position 133351945, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Leigh_syndrome'] | AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATC | AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCN | pathogenic | 153,398 |
The mutation impacting SURF1 (SURF1 cytochrome c oxidase assembly factor) on chromosome 9 at position 133351969: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormal_pyramidal_sign', 'Cerebellar_ataxia', 'Charcot-Marie-Tooth_disease_type_4K', 'Dysarthria', 'Inborn_genetic_diseases', 'Leigh_syndrome', 'Leigh_syndrome_due_to_mitochondrial_complex_IV_deficiency', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1', 'Muscle_weakness', 'SURF1-related_disorder'] | TGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAG | TGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGNN | pathogenic | 153,399 |
Mutation at chromosome 9, position 133352069, within SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTC | CCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTAATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCA | pathogenic | 153,407 |
Evaluate the clinical significance of the mutation at chromosome 9, position 133352071 in gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCA | CAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTG | pathogenic | 153,408 |
Gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant at chromosome position 133352089 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTA | TCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAN | pathogenic | 153,412 |
Is chromosome 9, position 133352093, gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAA | TCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAANN | pathogenic | 153,413 |
Regarding the variant at chromosome 9 and position 133352100, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGAC | GGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACNN | pathogenic | 153,414 |
Evaluate the clinical significance of the mutation at chromosome 9, position 133352119 in gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Leigh_syndrome'] | AGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTAT | AGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATNN | pathogenic | 153,415 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 133352121, gene SURF1 (SURF1 cytochrome c oxidase assembly factor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGT | GGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGCCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTNN | pathogenic | 153,416 |
Mutation at chromosome 9, position 133352134, within SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_2', 'Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAA | GGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAANN | pathogenic | 153,418 |
A genetic variant at chromosome 9, position 133352138, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATAT | GGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATNN | pathogenic | 153,419 |
Chromosome 9, position 133352445, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTC | GTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCN | pathogenic | 153,423 |
A mutation at chromosome position 133352554 on chromosome 9 in gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCA | TGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCANNNNNNNNNNN | pathogenic | 153,429 |
Variant in SURF1 (SURF1 cytochrome c oxidase assembly factor), chromosome 9, position 133352564—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Leigh_syndrome'] | AACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCT | AACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTNN | pathogenic | 153,430 |
Clinically, how would you classify the variant at chromosome 9, position 133352586, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGC | CTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAA | pathogenic | 153,431 |
Mutation at chromosome 9, position 133352707, within SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | AAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGA | AAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGCAGGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGA | pathogenic | 153,433 |
Does the chromosome 9 mutation at position 133352725 within gene SURF1 (SURF1 cytochrome c oxidase assembly factor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Leigh_syndrome'] | TCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGAT | TCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATNN | pathogenic | 153,437 |
Variant at chromosome 9, position 133352729, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCA | GTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAN | pathogenic | 153,438 |
The mutation in gene SURF1 (SURF1 cytochrome c oxidase assembly factor) at chromosome 9, position 133352746—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome'] | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCA | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCC | pathogenic | 153,440 |
Regarding the variant at chromosome 9 and position 133352746, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCA | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCANN | pathogenic | 153,441 |
Is the variant located on chromosome 9 at position 133352746, gene SURF1 (SURF1 cytochrome c oxidase assembly factor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCA | CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCANNNN | pathogenic | 153,442 |
Benign or pathogenic: chromosome 9, position 133352748, gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant? Disease(s) if pathogenic? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGA | CCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAG | pathogenic | 153,443 |
Variant chromosome 9, position 133353747, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? Disease(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCAC | TAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACN | pathogenic | 153,448 |
Mutation found at chromosome 9 position 133353895, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | GATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTAC | GATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACNN | pathogenic | 153,450 |
Regarding the variant at chromosome 9 and position 133354660, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; [] | TAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAG | TAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGNNNNNNNNN | pathogenic | 153,452 |
Mutation found at chromosome 9 position 133354661, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1', 'SURF1-related_disorder'] | AAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGG | AAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCATGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGNNNNNNNN | pathogenic | 153,453 |
Gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant at chromosome 9, position 133354670—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | TGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTG | TGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGATGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTT | pathogenic | 153,454 |
Variant at chromosome 9, position 133354700, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Leigh_syndrome', 'SURF1-related_disorder'] | CCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAG | CCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGA | pathogenic | 153,455 |
Determine whether the variant at chromosome 9, position 133354864, in gene SURF1 (SURF1 cytochrome c oxidase assembly factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | ACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGC | ACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGG | pathogenic | 153,463 |
Clinically, how would you classify the variant at chromosome 9, position 133354877, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Leigh_syndrome'] | GTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCAT | GTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATNNNN | pathogenic | 153,464 |
Variant on chromosome 9, at position 133354911, affecting SURF1 (SURF1 cytochrome c oxidase assembly factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCG | CAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCC | pathogenic | 153,466 |
Considering the variant on chromosome 9, location 133354954, involving gene SURF1 (SURF1 cytochrome c oxidase assembly factor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | CAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGG | CAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTG | pathogenic | 153,467 |
Located at chromosome 9 position 133356309, the variant affecting gene SURF1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1'] | ACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCAT | ACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATN | pathogenic | 153,472 |
Subsets and Splits
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