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 chromosome 22, position 18079991, gene PEX26 (peroxisomal biogenesis factor 26): benign or pathogenic? Disease(s)?
|
pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B']
|
AGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGCATTTTTTCATATACCTGTTGGCCATGGTACGTCGTCTTCTGAGAAATGTCTGTTGA
|
AGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGCATTTTTTCATATACCTGTTGGCCATGGTACGTCGTCTTCTGAGAAATGTCTGTTGAN
|
pathogenic
| 321,867 |
A genetic variant at chromosome 22, position 18083677, affecting gene PEX26 (peroxisomal biogenesis factor 26)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B']
|
TGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGCATTTTTTCATATACCTGTTGGCCATGGTACGTCGTCTTCTGAGAAATGTCTGTTGAGGTCTTTTTCCCTTTTGAATCAGGTTTTTTTTTTTTTTTTCTGCTGTTAAGTTCCTGATATATTCTGGATATTAACGCTTTGTCAGATGGATAGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGTTTCTTCACTCTTAATTGCTTCCTTTGCTGTGCAGAAGTTTTTAGTTTGATGTCATTTCATTTGTCCATTTTTGCTTTTGTTACCAGTGCTTTTAAGGTCTTACTGAAAAAAACACTTGCTCAGCCCAGTGTTGTGAGGCATTTCTCCTGTGCTTTCTTCTAGTAGTTTCATGGTTTTGGATTTTACATTTAAGTCTTGAATCCATTTTGAGTTAATTTTTGTATGTGGGGAAAGGTAGGGGTCTGGTCTCCTGCATATGGATATCCGATTTTCCCAGCACCATTTATTAAAGAGACTGTCTTTTCCCCTGTGTGTGTTCTTGGCACCTTTGTTGAAAATCAGTTGGCTGTAGGTGCATGAATTTATTTCTGGGCTCTCTGTTCTGTTCTATTTTGTCTGTTTTTATGCCATAACATGCTGTTATGGTTACTGTTATAGCTTTGTGTAGTATGGTTTGAAGTCAGGTAATATGATACCTCCAGCTTTGTTCTTTTTGCTCACAACTGCTTTAGCCATTTGGGGTCTTTTGTGGTTCCATACGAATTTCAGGATTGTTTTTTCTGTTTCTGAAGAATGCCATTGGTGTTTTGATAGGGATTGCATTAAATCTGTAAATTGCTTTGGGTATTTTAATAATATTCTTCCAATTTGTGAATGAACACGGGATATCTTTCCATTTTTTGTGTGTCCCCTTCAACTTCTTTCATCAATGTTTTATAGTTTTCAGTGTAGAGATCTTTTGCCAGCTTGGTTTAATTTATTCCTAGGTATCTTATTTTTTTGGTAGCTATTGTAAATCGAATTGTTTTCTTGATCTCTTTTCCAATGGTTCACTGTCACGTATAGAAACGCTGTTTTTTGTACATTGATTTTTGTATCCCACAACTTTACTGAATCCGTTTATTAGTTCTGTCTGCAAACAGGGATAACTTGACTTCCTCCTTTCCAATTTGGATACCTTTTATTTCTTTCTGTTGCCCGATTGCTCTGGCTATGACCTCCAGTACTATGTTGAATAAAAACGGTCAAAGTAGGCATCTTTGTCTTGCTCCTGATCTTAGAGGAAAGGCTTTCAGCTTTTCCCATTGATTATGCTGTTAGTGATGGGTGTGTCGTGGGGAATTCCCATGAGCATCATCATTTCATCGGAAAGGGCTCGAGGACACAGTGAGGAGGGGCTGGATAGGAGAAGCATAGTGGTCATGGGAAATGAACCAATCATTGAGCACTGACTCTTCTTTTGTTGGGATTGGGTTTTTTGGGGACTGCAGCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCTGTGCTGGATGTGGTGGGTGCCTGGCTCCAAGACCCAGCCAATCAAAACCTTCCAGAATATGGAGCCTTGGCAGAATTTCACGTGCAGCGGGTGCTGCTGCCTCTGGGCTGCTTATCGGAGGCTGAGGAGCTAGTGGTGGGCTCTGCAGCCTTTGGTGAGGAGCGGCGACTGGATGTACTTCAGGCCATTCACACAGCGAGGCAGCAGCAGAAACAGGAACACTCAGGCTCTGAGGAGGCCCAGAAGCCAAACCTGGAAGGTAGGACATTATCCCTCTGCGACCTCTGTAAAGTGGACTTGCGGGCTTGCACTGTACCTCGGGGTCTGTCGTGAAACTCCTGCGAGCTTAGAAGCAGTTCTTTGTATGAATAACTCTTGAGTCACAGAATAGGAGGCCTGTTGATTTGCTTCACAAAGTGAAGGCCAGACCCTCTGAAGTTGGCAGTGGAAGGAGAATCTCCACATGGGAAGGTGTTGCTGGGTCTTGGGACCTTGACTTGTCTTTTGAAAGTCATTTTCCCATTGGAGTCCTCTGATGAGGTCTCTTGCTTCCACCATACTGGTCTGGGTGGGATGTCCTTCCTCCTTTAAATGCTGGCCCCAATACAGACACAGCTGAGATCTGCTGGGATAGCCAAAGGAATATCAGAAACTAATTTGCAGACCCTTTCCCTGGTCGCTGAATCTTTTCCGCCCTTTTCCTTGAGTGATGATCTAGTCTAGTTGTGAATACTTCAAGGACAGAAAGTCACCATCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCGGGAATGCAGTGATGCGATCTCCGCTCACTGCAAGCTGCACCTCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGGCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACTGCGCCTGGCCTGAAAGGTTCTGAAAGGTTTTAAAAAACTTTTACAAAGATGCATTCAATATAGTAAATAATATATAGTCAAAATAAGTAATAAACACGAGGAAAACAATTTATATTCATGAGATTTGCAAGAGTATGTGCAGTTAAGGAATGAAGGCTTTAGCCAATACCTAATACCCTTTTACTAAACTCTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAAGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGATTCAAGTGATTCTCGTGCCTCAGGCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTGCTCAGGTCTTAGAAGCAAGCACAGAGGTCGGGGTCAGGGAAGCTGATTCCCATGACATCCCTGAAGCTGTGCTCTGTCTCCCTGGCCAGGCTCTGTCTCCCACAAGTTCCTGTCACTACCGATGTTGGTTCGCCAGCTTTGGGACTCTGCGGTGAGCCACTTCTTTTCTCTGCCCTTCAAAAAGAGTCTCCTGGCTGCCTTGATCCTCTGTCTCCTGGTGGTGAGATTTGATCCAGGTAAGAGGTGGAGACTCTCCCCTGTCCTTCCTGGGAAGGGGTTGTTGCCAGGGCTGGGCCTGTGGGAGTGGGTGTTTGTCAGAGTCCTACTGGGGAGGGGAGTCTCTCCTATGACATTTCCCCTGAGTCTGTTCCACAAGGAGGAATTGCTAGACTGGGCATGAGCCAGCCCCACCCATAAGGAGAGGCCAGTCCTGGAGTCTATGAGAGCAGCCAGGAGAAAGTCCACTTGGCCCTGCTGACTCCTGAACATGGACTGAGTCATAGTCCTCCACTTTTTCTAGGGCTGAACTCTGACTAGAACCTCAGAATTTAAAAAAACTTCCTCTTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTAAAGCCCCATCTCTACTAAAGATACAAAAAAAATT
|
TGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGCATTTTTTCATATACCTGTTGGCCATGGTACGTCGTCTTCTGAGAAATGTCTGTTGAGGTCTTTTTCCCTTTTGAATCAGGTTTTTTTTTTTTTTTTCTGCTGTTAAGTTCCTGATATATTCTGGATATTAACGCTTTGTCAGATGGATAGTTTGCAAATATTTTCTCCCATTCTGTAGGTTGTTTCTTCACTCTTAATTGCTTCCTTTGCTGTGCAGAAGTTTTTAGTTTGATGTCATTTCATTTGTCCATTTTTGCTTTTGTTACCAGTGCTTTTAAGGTCTTACTGAAAAAAACACTTGCTCAGCCCAGTGTTGTGAGGCATTTCTCCTGTGCTTTCTTCTAGTAGTTTCATGGTTTTGGATTTTACATTTAAGTCTTGAATCCATTTTGAGTTAATTTTTGTATGTGGGGAAAGGTAGGGGTCTGGTCTCCTGCATATGGATATCCGATTTTCCCAGCACCATTTATTAAAGAGACTGTCTTTTCCCCTGTGTGTGTTCTTGGCACCTTTGTTGAAAATCAGTTGGCTGTAGGTGCATGAATTTATTTCTGGGCTCTCTGTTCTGTTCTATTTTGTCTGTTTTTATGCCATAACATGCTGTTATGGTTACTGTTATAGCTTTGTGTAGTATGGTTTGAAGTCAGGTAATATGATACCTCCAGCTTTGTTCTTTTTGCTCACAACTGCTTTAGCCATTTGGGGTCTTTTGTGGTTCCATACGAATTTCAGGATTGTTTTTTCTGTTTCTGAAGAATGCCATTGGTGTTTTGATAGGGATTGCATTAAATCTGTAAATTGCTTTGGGTATTTTAATAATATTCTTCCAATTTGTGAATGAACACGGGATATCTTTCCATTTTTTGTGTGTCCCCTTCAACTTCTTTCATCAATGTTTTATAGTTTTCAGTGTAGAGATCTTTTGCCAGCTTGGTTTAATTTATTCCTAGGTATCTTATTTTTTTGGTAGCTATTGTAAATCGAATTGTTTTCTTGATCTCTTTTCCAATGGTTCACTGTCACGTATAGAAACGCTGTTTTTTGTACATTGATTTTTGTATCCCACAACTTTACTGAATCCGTTTATTAGTTCTGTCTGCAAACAGGGATAACTTGACTTCCTCCTTTCCAATTTGGATACCTTTTATTTCTTTCTGTTGCCCGATTGCTCTGGCTATGACCTCCAGTACTATGTTGAATAAAAACGGTCAAAGTAGGCATCTTTGTCTTGCTCCTGATCTTAGAGGAAAGGCTTTCAGCTTTTCCCATTGATTATGCTGTTAGTGATGGGTGTGTCGTGGGGAATTCCCATGAGCATCATCATTTCATCGGAAAGGGCTCGAGGACACAGTGAGGAGGGGCTGGATAGGAGAAGCATAGTGGTCATGGGAAATGAACCAATCATTGAGCACTGACTCTTCTTTTGTTGGGATTGGGTTTTTTGGGGACTGCAGCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCTGTGCTGGATGTGGTGGGTGCCTGGCTCCAAGACCCAGCCAATCAAAACCTTCCAGAATATGGAGCCTTGGCAGAATTTCACGTGCAGCGGGTGCTGCTGCCTCTGGGCTGCTTATCGGAGGCTGAGGAGCTAGTGGTGGGCTCTGCAGCCTTTGGTGAGGAGCGGCGACTGGATGTACTTCAGGCCATTCACACAGCGAGGCAGAGCAGAAACAGGAACACTCAGGCTCTGAGGAGGCCCAGAAGCCAAACCTGGAAGGTAGGACATTATCCCTCTGCGACCTCTGTAAAGTGGACTTGCGGGCTTGCACTGTACCTCGGGGTCTGTCGTGAAACTCCTGCGAGCTTAGAAGCAGTTCTTTGTATGAATAACTCTTGAGTCACAGAATAGGAGGCCTGTTGATTTGCTTCACAAAGTGAAGGCCAGACCCTCTGAAGTTGGCAGTGGAAGGAGAATCTCCACATGGGAAGGTGTTGCTGGGTCTTGGGACCTTGACTTGTCTTTTGAAAGTCATTTTCCCATTGGAGTCCTCTGATGAGGTCTCTTGCTTCCACCATACTGGTCTGGGTGGGATGTCCTTCCTCCTTTAAATGCTGGCCCCAATACAGACACAGCTGAGATCTGCTGGGATAGCCAAAGGAATATCAGAAACTAATTTGCAGACCCTTTCCCTGGTCGCTGAATCTTTTCCGCCCTTTTCCTTGAGTGATGATCTAGTCTAGTTGTGAATACTTCAAGGACAGAAAGTCACCATCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTCGCCCAAGCGGGAATGCAGTGATGCGATCTCCGCTCACTGCAAGCTGCACCTCTCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGGCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACTGCGCCTGGCCTGAAAGGTTCTGAAAGGTTTTAAAAAACTTTTACAAAGATGCATTCAATATAGTAAATAATATATAGTCAAAATAAGTAATAAACACGAGGAAAACAATTTATATTCATGAGATTTGCAAGAGTATGTGCAGTTAAGGAATGAAGGCTTTAGCCAATACCTAATACCCTTTTACTAAACTCTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAAGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGATTCAAGTGATTCTCGTGCCTCAGGCTCCCAAGTAGCTGGGACTACAGGCGCACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTGCTCAGGTCTTAGAAGCAAGCACAGAGGTCGGGGTCAGGGAAGCTGATTCCCATGACATCCCTGAAGCTGTGCTCTGTCTCCCTGGCCAGGCTCTGTCTCCCACAAGTTCCTGTCACTACCGATGTTGGTTCGCCAGCTTTGGGACTCTGCGGTGAGCCACTTCTTTTCTCTGCCCTTCAAAAAGAGTCTCCTGGCTGCCTTGATCCTCTGTCTCCTGGTGGTGAGATTTGATCCAGGTAAGAGGTGGAGACTCTCCCCTGTCCTTCCTGGGAAGGGGTTGTTGCCAGGGCTGGGCCTGTGGGAGTGGGTGTTTGTCAGAGTCCTACTGGGGAGGGGAGTCTCTCCTATGACATTTCCCCTGAGTCTGTTCCACAAGGAGGAATTGCTAGACTGGGCATGAGCCAGCCCCACCCATAAGGAGAGGCCAGTCCTGGAGTCTATGAGAGCAGCCAGGAGAAAGTCCACTTGGCCCTGCTGACTCCTGAACATGGACTGAGTCATAGTCCTCCACTTTTTCTAGGGCTGAACTCTGACTAGAACCTCAGAATTTAAAAAAACTTCCTCTTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAAATCGAGACCAGCCTGGCCAACATGGTAAAGCCCCATCTCTACTAAAGATACAAAAAAAATTN
|
pathogenic
| 321,874 |
A mutation at chromosome position 18124323 on chromosome 22 in gene TUBA8 (tubulin alpha 8): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
ACTCTCAGTTGAATATCAGGATTTCCCCAGCTCCAAGCCTGGCTCCTCAAGCCAGAGATGGACAGTTCTGCAAAGAGGACTGGGCACGAAGTATATGCCTGGACACCAATGTCTAGGGGCAACAGAGGGCAGATGCTCCACCCCCTGGATGCTTTGCACCAATGCACAAAGTGCAGGTTACCTCCTGGGCCACTGCACAGATGATTTTTCTGCAGGGAGTAGAGGAACCCCGAAGAGAAGAGGTGACATAGTTGGGGCCTGATGTGTCTTGATCTGCTCTGTATCCGCTTTGTGTGGACCCTTGGAAGTGAGCAGAGACCCCTTAAAGGCCTCTCTAGGGCTCTTGCTCCTCTATGACTTGGAACATAGCTTTGCTTCCCATTATTCTAAAATATGTCTAATGCCTGACATATATTATTGCCACCATGAGGTGGAGTTGAGGGGTGGGACAACTCTTGGGGGTCTAGGTTCTGGGCAGATCATCCTGAATCTTTCTCCATGTCCCTAGAATATTTTAATGCAAAAGGACTTAAGTTAAATTGTTGGTACACCTTGGCCCGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAATTACAAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCCGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGTTGGTACACCTTGCAGCATGAAAGAAAAAACAAAAGGGAAACCTGGAGGAGTCAAGGTGGAAGGGAGGAGAGGCAATTGGCGTTGGTGTTCGATGAGCTTTTTTTTTGTTTTTTTGTTTGTTTGTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCGGCCACCACGCCTGCCTAATTTTTTTGTATTTTCAGTAGAGACATGGTTTCACCATGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAATCCTGGGATTACAGGCGTGAGTCACTGCACCCGGCCGGCCCAAGTTTTGTTGCTGTTGTGTTTTTTTTGGAGATGGAGCCTCGCTCTGTCTTGTTGCCCAGGCTGGAGTGCAGTGGCAAGATCTCAGCTCACCTCAGCCTCTGCCTCCCAGGTTGAAGAGATTCTCCTGCCTCAGGCCTCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACCTGGCTAACTTTTTGTATTTTAGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAGGCAATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGGGCCCGGCGATGTTCGATGAGCTTTGTAAAGCTAAGTCTTTTTAGGGTTCTAGCCAGCAGGGCAGCCTGCTTCTCACCGCCCACATGAGCCACAGGCCTTGGCTCTGTTAGTCCCTGAGCTACCCGGGAATTCTCTTAGCCTTTTGCAGATTCATTACGAGGTGGTCTGGCTTCAAACCTCCATGGAGTTTTATAGGTAGGGGAGAACGGAAGGGGTCCTGCGGTAGTGTGGTAGGGAGGGAGGCTTCTCCCCTGGGCAGTAGGACCTAATGGTCTTCCTCTCTTGGAAGATGAGGTTCGGGCAGGAACCTACCGCCAGCTCTTCCATCCAGAGCAGCTGATCACAGGAAAGGAGGATGCAGCCAACAACTATGCCCGGGGCCACTACACGGTGGGCAAGGAGAGCATTGACCTGGTGCTGGACCGCATACGGAAGCTGGTAAGATCAGGAGGGCAGGGGACGGGTGGGTCAGGCTGGAGTGGACAGGCTTGGCCCCATGCCTCTTTGATCAGGCTAGGGAGAGGCATCTGACCCCTGGCTATAGGATGGAGCTCCTAAGGTTTGGGAATTTCTGCTTAAATTCTGTAAGAAGCATGCACAGGGGTGATGCCCCTTCCTCTGTGTTGGCATCATAGACTGTGTTCCAGGCTGAGGCCCTACTCATACTCATTGATACTCTCTGTTAGTATCTGGGGAAGGTTCCGGGTATAAGGCAGGATGAGGTCTCTGCTGGTCGGAAACACAGGTTAACAAAGCATTTAACTTGGAAGAGGAGAGGAAGAGATTGTTGATACATTTGGGCACTTACAAGTGCCATTACAGATGTTAAGCACATTCCTTCATTTAATCCTTAATAATTAGACTTAGGAGGTGTCCTTCCTGTGCTTTACAGATGAAGAAATTGAGGGCCAGGGTGGTTCAATATCTTAGCCTGGGTCACACAGCTAAAAAGTGGCAGAGCTGGGGTTTGAACTCAGTTGGACTACAAAGCTCTTGAGTTGTAGGTTGTGTCACTTTATTTATTTAAGCTTCCATTTGCTTATCTGTATAATGGAAAAGCTTGGACCTGATCACATGTTCTTTCCCTGGGAGGTAAGGGTGCCAAACTTTTGCATATATTCACTTTTTCTGTTTAGAGGAGGGCTTGTCAGGGTCATTGGCCTCAAAGCTGTCTGTGGTCCCCAAAAGTTCAAATCACACCCAGTGGGAAAATCCTGTGATTCTATGAATTCTCTGGTGAGAGCTGACATCCGTGCTTACAACGTATCAGGCCCTTGCTCAGCATGTTATGCTATTTTATTTAATTGTCACAATAACCTTATGAGGATTTTCTATTGTCCCCATTTTCACTAAGAAGGAACAGAAGTGGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGTGGATCACGGGGTCAAGAGATTGAGATCATCCTGGCCAACATGTTAAAACCCCATCTTTACTAAAAATACAAAAAATTAGCTGGGCATGGTAGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGTGGCAGGAGAATTGCTTGAACCCAGAAGGCGGAGTTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAACAGAAGTTTGGAGAGGTTCAGTAACTTGCTCAAGTTCTTACAACCAAGAAATGGCAAAGTTGATATTAGAACTCAGGCTTTCTGGCTCCATGTACCTTTCTGAAATTGGTGCCCTGAGTCACCTTCCAAGGTTGGGTTGAAGTGTGTCGGCAGCAGTTCCCACAAAATCAAATGACAAGAGCAGGGAAAGTGGGCAAGGAGTTGGGGCCCTCAAAGGGCAAAGTCACCATCCACTGTGGTTCTGAAACTCTCATTCCCTGTTCAACCAAGTTACTGGGCTGAAACCTTCATGTACCTAGAGGCGTGTGCCCCTGCAGCTTGTCATCCTATTAAAAAAAATAGAGACAGAGACTTGCTCTGTCATCCAAGCCAGAGTGCAGTGGTGTGATCATAGATTTCTGCAGCCATGAGCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCATCCCAAGTAACTGGGACTACAGGTGTGCATCACCACGCCCAGTTAACTTTTAAAATTTTTTGTAGATGCGAGGTCTCACTATGTTGCCCATGCTGGTTGTGAACTCCTGGCCTCAATGGATCCTCCTGCCTCAGCTTCCCAAACTGCTGGGATTACAGGCATTGAGTCACTGTGCCTGGCCCCATCCCATATTTTAGCCACTCCTCCAAAGATCAATACAACTCCTTTTGTTTCCTTACTTCTTCAAAGCTGTTTTGATTTCATCCACAAAAAAATATGAGGCAGACAGAGTGGGCGGTCTGGCTTTTTTACTGTGGGGTGTTCTCGGAAACTTGTCTTCATGATTTCTTCTCATGTCCTGCTCTCCCTAGACAGATGCTTGCTCTGG
|
ACTCTCAGTTGAATATCAGGATTTCCCCAGCTCCAAGCCTGGCTCCTCAAGCCAGAGATGGACAGTTCTGCAAAGAGGACTGGGCACGAAGTATATGCCTGGACACCAATGTCTAGGGGCAACAGAGGGCAGATGCTCCACCCCCTGGATGCTTTGCACCAATGCACAAAGTGCAGGTTACCTCCTGGGCCACTGCACAGATGATTTTTCTGCAGGGAGTAGAGGAACCCCGAAGAGAAGAGGTGACATAGTTGGGGCCTGATGTGTCTTGATCTGCTCTGTATCCGCTTTGTGTGGACCCTTGGAAGTGAGCAGAGACCCCTTAAAGGCCTCTCTAGGGCTCTTGCTCCTCTATGACTTGGAACATAGCTTTGCTTCCCATTATTCTAAAATATGTCTAATGCCTGACATATATTATTGCCACCATGAGGTGGAGTTGAGGGGTGGGACAACTCTTGGGGGTCTAGGTTCTGGGCAGATCATCCTGAATCTTTCTCCATGTCCCTAGAATATTTTAATGCAAAAGGACTTAAGTTAAATTGTTGGTACACCTTGGCCCGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAATTACAAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCCGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGTTGGTACACCTTGCAGCATGAAAGAAAAAACAAAAGGGAAACCTGGAGGAGTCAAGGTGGAAGGGAGGAGAGGCAATTGGCGTTGGTGTTCGATGAGCTTTTTTTTTGTTTTTTTGTTTGTTTGTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGTAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCGGCCACCACGCCTGCCTAATTTTTTTGTATTTTCAGTAGAGACATGGTTTCACCATGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAAATCCTGGGATTACAGGCGTGAGTCACTGCACCCGGCCGGCCCAAGTTTTGTTGCTGTTGTGTTTTTTTTGGAGATGGAGCCTCGCTCTGTCTTGTTGCCCAGGCTGGAGTGCAGTGGCAAGATCTCAGCTCACCTCAGCCTCTGCCTCCCAGGTTGAAGAGATTCTCCTGCCTCAGGCCTCCGAGTAGCTGGGACTACAGGCGCACGCTGCCACACCTGGCTAACTTTTTGTATTTTAGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTAAGCTCAGGCAATCTGCCCGCCTCGGCCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGGGCCCGGCGATGTTCGATGAGCTTTGTAAAGCTAAGTCTTTTTAGGGTTCTAGCCAGCAGGGCAGCCTGCTTCTCACCGCCCACATGAGCCACAGGCCTTGGCTCTGTTAGTCCCTGAGCTACCCGGGAATTCTCTTAGCCTTTTGCAGATTCATTACGAGGTGGTCTGGCTTCAAACCTCCATGGAGTTTTATAGGTAGGGGAGAACGGAAGGGGTCCTGCGGTAGTGTGGTAGGGAGGGAGGCTTCTCCCCTGGGCAGTAGGACCTAATGGTCTTCCTCTCTTGGAAGATGAGGTTCGGGCAGGAACCTACCGCCAGCTCTTCCATCCAGAGCAGCTGATCACAGGAAAGGAGGATGCAGCCAACAACTATGCCCGGGGCCACTACACGGTGGGCAAGGAGAGCATTGACCTGGTGCTGGACCGCATACGGAAGCTGGTAAGATCAGGAGGGCAGGCGGGTGGGTCAGGCTGGAGTGGACAGGCTTGGCCCCATGCCTCTTTGATCAGGCTAGGGAGAGGCATCTGACCCCTGGCTATAGGATGGAGCTCCTAAGGTTTGGGAATTTCTGCTTAAATTCTGTAAGAAGCATGCACAGGGGTGATGCCCCTTCCTCTGTGTTGGCATCATAGACTGTGTTCCAGGCTGAGGCCCTACTCATACTCATTGATACTCTCTGTTAGTATCTGGGGAAGGTTCCGGGTATAAGGCAGGATGAGGTCTCTGCTGGTCGGAAACACAGGTTAACAAAGCATTTAACTTGGAAGAGGAGAGGAAGAGATTGTTGATACATTTGGGCACTTACAAGTGCCATTACAGATGTTAAGCACATTCCTTCATTTAATCCTTAATAATTAGACTTAGGAGGTGTCCTTCCTGTGCTTTACAGATGAAGAAATTGAGGGCCAGGGTGGTTCAATATCTTAGCCTGGGTCACACAGCTAAAAAGTGGCAGAGCTGGGGTTTGAACTCAGTTGGACTACAAAGCTCTTGAGTTGTAGGTTGTGTCACTTTATTTATTTAAGCTTCCATTTGCTTATCTGTATAATGGAAAAGCTTGGACCTGATCACATGTTCTTTCCCTGGGAGGTAAGGGTGCCAAACTTTTGCATATATTCACTTTTTCTGTTTAGAGGAGGGCTTGTCAGGGTCATTGGCCTCAAAGCTGTCTGTGGTCCCCAAAAGTTCAAATCACACCCAGTGGGAAAATCCTGTGATTCTATGAATTCTCTGGTGAGAGCTGACATCCGTGCTTACAACGTATCAGGCCCTTGCTCAGCATGTTATGCTATTTTATTTAATTGTCACAATAACCTTATGAGGATTTTCTATTGTCCCCATTTTCACTAAGAAGGAACAGAAGTGGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGTGGATCACGGGGTCAAGAGATTGAGATCATCCTGGCCAACATGTTAAAACCCCATCTTTACTAAAAATACAAAAAATTAGCTGGGCATGGTAGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGTGGCAGGAGAATTGCTTGAACCCAGAAGGCGGAGTTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAACAGAAGTTTGGAGAGGTTCAGTAACTTGCTCAAGTTCTTACAACCAAGAAATGGCAAAGTTGATATTAGAACTCAGGCTTTCTGGCTCCATGTACCTTTCTGAAATTGGTGCCCTGAGTCACCTTCCAAGGTTGGGTTGAAGTGTGTCGGCAGCAGTTCCCACAAAATCAAATGACAAGAGCAGGGAAAGTGGGCAAGGAGTTGGGGCCCTCAAAGGGCAAAGTCACCATCCACTGTGGTTCTGAAACTCTCATTCCCTGTTCAACCAAGTTACTGGGCTGAAACCTTCATGTACCTAGAGGCGTGTGCCCCTGCAGCTTGTCATCCTATTAAAAAAAATAGAGACAGAGACTTGCTCTGTCATCCAAGCCAGAGTGCAGTGGTGTGATCATAGATTTCTGCAGCCATGAGCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCATCCCAAGTAACTGGGACTACAGGTGTGCATCACCACGCCCAGTTAACTTTTAAAATTTTTTGTAGATGCGAGGTCTCACTATGTTGCCCATGCTGGTTGTGAACTCCTGGCCTCAATGGATCCTCCTGCCTCAGCTTCCCAAACTGCTGGGATTACAGGCATTGAGTCACTGTGCCTGGCCCCATCCCATATTTTAGCCACTCCTCCAAAGATCAATACAACTCCTTTTGTTTCCTTACTTCTTCAAAGCTGTTTTGATTTCATCCACAAAAAAATATGAGGCAGACAGAGTGGGCGGTCTGGCTTTTTTACTGTGGGGTGTTCTCGGAAACTTGTCTTCATGATTTCTTCTCATGTCCTGCTCTCCCTAGACAGATGCTTGCTCTGGNNN
|
benign
| 321,903 |
Variant in gene PRODH (proline dehydrogenase 1), located at chromosome 22 position 18922771: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
TTCTAACAAACAGAACTTGCCAGAAAAGACACCGTGTGACTTCTGAGGCGAGGCAGGAAAAGGTCACCCAGCTTCTGCCTGGCTCTCACGTCTCAGGTGACACTGGCCCTTAGAGCCCAGCTGCCATGTTGGGAAAAAGCCCAAGCCACAGCCAGCACCAACTCCCAGACATGTGAATGGGTGCCTCCCCCAGGTCCCAGCGCCACCACTCTGTGAGTACAGCTACCCAGGAGACCCCAGGGGAGGACTGCCCAGCTGAGCCCTGTCAACCCCAGAACCATGAGGCAGAAGCAGAGTGGCTGCTGCCGTTTCAGGCCTCTGAAGTTTGGGGTGACCTGATGCACAAGACAGATGACTTGGGGAAGGCCCCCAGACCCCCTCTCCTTGTGGTGTCTTAAGGCTCCGCGTGGGTCTCTGTCCCGCCAAGCACTCTGTGGACACTAGTGGGCTTGTCTTCTTCCCCCTGGACCACAGGGGGTCTGTGGGGCCATAGTGTGCAGTGATTTTGGTCATGTTAAGTTCCCAGGGTAGGCAACAAGAGACACACGTGGCAGGCTGAATTCCCTTCTTAGCGCAGCGCCCTGCTGAGCTGGGCCTCACTGAGGAGCGGAGGTGTTACCTGTGCGTTGGGGACTACCAAGTGCTTGGACAGCTTGGTCCTGCTGTCGATGAGGCTGCTCCAGTCCAGCAGGTCCATGGTGCTGAGGGAGGAGGCGCATCAGCAGAGGGGGCACCCCCACCTGTGGGTGCTAGGGTCGGGTGGGGGATCGAGGCCCAAACCTGTCCGTTCACCACCCACCACAAAACCCACCTCGGTGTTCAGTTTTAAAAGACAGAGGAAATATAAATATTGTTTTCTGTTTAAAAATTTAAAACCAGTGGCATGCGGGGGCTCAAACTTATAATCCCAGCACTTTGGGGGCTGCGGCGGGCAGGTCACTTGAGCCCAGGGGTTTGAAACCAGCCTGGGCAACATGGTGAGACCTGGTCTCTATAAAAAATAAATTAATTAAATAAATTTAAAACCAAAACACAAACAGTCCTGCATCTAGGCGGCTCTGAAAACACTGAGTACCCTAGGCTGTTTTGGGCTTGTGGAGGGGCCGAGCACAGGCAGCCAGGCAGGAGGCGGACACAGCTCCGGGCGGCCAGGGAGGACACAGTGGGCAAGGCTGGCAGTGTGTGAGGGGATGGCTCACTACTGCACCACCCCAGTCACCTCCCCACTTCAACTGGAGGCTCCTGGTGATCTGGGTCCCAGCCCCTGGCTCCAAGGATGGGGCATGGGGCTCTGATCCTTCACCTGCCGGCGTGGACTCCAGGGAGGGCTGAGAGTGCCACCTTTGCTCTGGACCCAGATAATTCTATAAAGAGCCCTCTATGGGGTCTGTGCTGGCCCTGTGTCTCCCCTGCCCAGCCCAGCCCCAGCCTCAGGGACTCCTGAAGCCATCAAGTCCTGCTGTGTGAAAAGCAGTTCCTTCAGCACTGTCATCCCAGGGCCCACCCTCTCAGGCAGGGCAGCCAGGACTGGGAGACGTCACTGGGGCTTGGCTGGAACCATGGCTGATGCTCGTGTCCTCTCAGCCTGGGGGCTGCTCTCACCCAGACACTCCCAGGGTCTCTGCCGTGAACCAGTCCTCAATCTCAGCCCTGGATGCGATGCCCAACTTTGCGACACTTTCCTTGAGAAGTGAGAAGGCCTGGATCAGCCCCATTCACTCATATTTTATCCTTCCCCCCACCCATTGGCCTCTGGTGCTGTTTCTGGCTTTATTACATCGTTAGTAAGAACAGGATCCATGTCTGGTTTGTTTCTACTGCATAGACAGGTCTATTCCCACCCCGCTGCTGATGCACGCCCACGCCCTGCAGGGCTGGGTCTCCAGCCCTCCTGCCAGCATCTCCCCTCTCTGTTCAGAGTCCCTCTGACCTCCTCCTCCCCACCAGGCCAACCCCAGCAGCTGCAGAGTGAGCCACATGCCCTGGGTGAGTTCCCAAAACCACCTCCGACCACTGCCCACCATGCCCCGTGTGACCCCACGGTGCCCACCCCCTCACAAGCCACAGGAGTGGGGAAGGGGAAGGCTGCCCCACCTGCAGCACCGCCACCTCCAGCTTGGTGTCCATGGCAGCCAGGCCCGCCTGCCCTTGCTCCACAGCCATTTGGTGAAAGAAGCACCTCCACTTGGCCAGCACCTCTGAGAACTGCAGCTGCAAACGCAGGCCTGAATGCCATCTGCACACGCCCCTGCCCACCCCAGTCCCCCACACAGCCCCTGTGGCCAGCTCAGGCCTCTAAGGCATGGGCACCTGTGTTTTTGGTGGATGCCCACAGCTGCCCTGAGATCTCGCACAGCACCAGACTCTGCAGGTGGAAGGTTCTAGCACTTACCAGAAACTGGGGTCTCCCCAGTGCTGTGAGCTTAATGGCTATGAAGCCGTCATCGCTGACTCTACCTGTCAGAAGCCACAGGAAAAGCCATGACAGCCCTGAGAGGTGCATGGAGGCAGCGCAGGGTGCGACAGGGAGGGCCAGGGCCTGGCCAGCCCACAGCAGGCTCCTGACCCCACCCCACCCCGCCCATGAAGTCCTTGCACATGGCGCTCTAGAGGCCCTGTGGAGATGGGAGGGGGCTCCGTGGCGGGGTTTCTGTTTCCATGCAGGTGTGGGACAGCAGTGGGCACAGGAGCTGCCTGTCCCCTGCCAAGCAGCCCCCACAGGCTCCCTGCCTCGGTTTCCTTCCCTGTGCCACCAGCACCACAGGCTGCTCACACGTGGGTCACAGGACCCAGAAACACCGAGCGTGGCTAAGACAGAGACACCCCAGCGAGGTCCCCTTGCTCAGGCCTCTGCCCCAGAGACCGAGTCTCTCAGGAACCTCTGACGCAAGCGCAGGCTCCTGCCCCCGTGCAGCCAGCCCGCAGTCCCACCCTGTCCTCCAGGCCAGCCCTCCTGCAGCATTCTTGCCCCTGACACTTCTTTCCAAGCAACAACCAGAAATGTTCCTTTAAAGTGAAAGCAGATCTTACCATCTCATCTTGTTTCACGCCACCCCAATGCAGGGCCTTCCCCTTCCACCTGCCCTGGGAGAACAGGCAATGGACGAGGAGAAGACGCCCCTCACCCTGATGGCCCAGCATTCAGCTGGCCACTCTGACCCTCAGCCCCCATCAGGAGGCGGCTTCCAAGCACTGCTCAGAAGTGCCAGGTGCAGCGGCATGCACCTATAATCCCAGCACTTTGGGAGGCCAAAGTGTAAGGTTCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACACCATCTCTACAAAAAATATGAAAATTAGCTGGGTGTGGTAGTGTGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGAGGGATCACTTGAGCCCAGGAGTTCCAGGCCAACCAGGGCAACATAGTGAGACCTCATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGCGCCTGCTGCCACGCCCGGCTAATTTTTTGTATTTTAGTGGAGACGGAGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTGAGCTCAGGCAATCCACCCGCCTTGGCCTCCCAAATTGCTGGGATTAGAGGCGTGAGCACTCCAGCCTGGGTGACAGAGCAAGATCCAGTCTCATTTGAAGCAAACAAACAAAAACATAAACAGGCCTGGGACCCGCTGCCCCTGACGGAGGGCTGCTGGGGCCAGCATGGGGCTGTGCAGGTCGGATGTTTCTAACACTGAAGGACATTGGGCCTTGCTGACCTCTGGCTTCTCTATCCCTGGAAACACCTGCTGCCCCCACCGCTGGCCCCCAGAGGCTGTGTCAGGGAAGGACAGAAGATGCGGCACCAGCTCCCTGAATGGAACCTCCACCCTGGGCTAAGTGTGGCTCGGCAGCTGACATGGACCAACTTCCTGCAGCTCCCGATCCTGGCCCTGAGCCAGGGAGAAGGGTGGGGG
|
TTCTAACAAACAGAACTTGCCAGAAAAGACACCGTGTGACTTCTGAGGCGAGGCAGGAAAAGGTCACCCAGCTTCTGCCTGGCTCTCACGTCTCAGGTGACACTGGCCCTTAGAGCCCAGCTGCCATGTTGGGAAAAAGCCCAAGCCACAGCCAGCACCAACTCCCAGACATGTGAATGGGTGCCTCCCCCAGGTCCCAGCGCCACCACTCTGTGAGTACAGCTACCCAGGAGACCCCAGGGGAGGACTGCCCAGCTGAGCCCTGTCAACCCCAGAACCATGAGGCAGAAGCAGAGTGGCTGCTGCCGTTTCAGGCCTCTGAAGTTTGGGGTGACCTGATGCACAAGACAGATGACTTGGGGAAGGCCCCCAGACCCCCTCTCCTTGTGGTGTCTTAAGGCTCCGCGTGGGTCTCTGTCCCGCCAAGCACTCTGTGGACACTAGTGGGCTTGTCTTCTTCCCCCTGGACCACAGGGGGTCTGTGGGGCCATAGTGTGCAGTGATTTTGGTCATGTTAAGTTCCCAGGGTAGGCAACAAGAGACACACGTGGCAGGCTGAATTCCCTTCTTAGCGCAGCGCCCTGCTGAGCTGGGCCTCACTGAGGAGCGGAGGTGTTACCTGTGCGTTGGGGACTACCAAGTGCTTGGACAGCTTGGTCCTGCTGTCGATGAGGCTGCTCCAGTCCAGCAGGTCCATGGTGCTGAGGGAGGAGGCGCATCAGCAGAGGGGGCACCCCCACCTGTGGGTGCTAGGGTCGGGTGGGGGATCGAGGCCCAAACCTGTCCGTTCACCACCCACCACAAAACCCACCTCGGTGTTCAGTTTTAAAAGACAGAGGAAATATAAATATTGTTTTCTGTTTAAAAATTTAAAACCAGTGGCATGCGGGGGCTCAAACTTATAATCCCAGCACTTTGGGGGCTGCGGCGGGCAGGTCACTTGAGCCCAGGGGTTTGAAACCAGCCTGGGCAACATGGTGAGACCTGGTCTCTATAAAAAATAAATTAATTAAATAAATTTAAAACCAAAACACAAACAGTCCTGCATCTAGGCGGCTCTGAAAACACTGAGTACCCTAGGCTGTTTTGGGCTTGTGGAGGGGCCGAGCACAGGCAGCCAGGCAGGAGGCGGACACAGCTCCGGGCGGCCAGGGAGGACACAGTGGGCAAGGCTGGCAGTGTGTGAGGGGATGGCTCACTACTGCACCACCCCAGTCACCTCCCCACTTCAACTGGAGGCTCCTGGTGATCTGGGTCCCAGCCCCTGGCTCCAAGGATGGGGCATGGGGCTCTGATCCTTCACCTGCCGGCGTGGACTCCAGGGAGGGCTGAGAGTGCCACCTTTGCTCTGGACCCAGATAATTCTATAAAGAGCCCTCTATGGGGTCTGTGCTGGCCCTGTGTCTCCCCTGCCCAGCCCAGCCCCAGCCTCAGGGACTCCTGAAGCCATCAAGTCCTGCTGTGTGAAAAGCAGTTCCTTCAGCACTGTCATCCCAGGGCCCACCCTCTCAGGCAGGGCAGCCAGGACTGGGAGACGTCACTGGGGCTTGGCTGGAACCATGGCTGATGCTCGTGTCCTCTCAGCCTGGGGGCTGCTCTCACCCAGACACTCCCAGGGTCTCTGCCGTGAACCAGTCCTCAATCTCAGCCCTGGATGCGATGCCCAACTTTGCGACACTTTCCTTGAGAAGTGAGAAGGCCTGGATCAGCCCCATTCACTCATATTTTATCCTTCCCCCCACCCATTGGCCTCTGGTGCTGTTTCTGGCTTTATTACATCGTTAGTAAGAACAGGATCCATGTCTGGTTTGTTTCTACTGCATAGACAGGTCTATTCCCACCCCGCTGCTGATGCACGCCCACGCCCTGCAGGGCTGGGTCTCCAGCCCTCCTGCCAGCATCTCCCCTCTCTGTTCAGAGTCCCTCTGACCTCCTCCTCCCCACCAGGCCAACCCCAGCAGCTGCAGAGTGAGCCACATGCCCTGGGTGAGTTCCCAAAACCACCTCCGACCACTGCCCACCATGCCCCGTGTGACCCCACGGTGCCCACCCCTCACAAGCCACAGGAGTGGGGAAGGGGAAGGCTGCCCCACCTGCAGCACCGCCACCTCCAGCTTGGTGTCCATGGCAGCCAGGCCCGCCTGCCCTTGCTCCACAGCCATTTGGTGAAAGAAGCACCTCCACTTGGCCAGCACCTCTGAGAACTGCAGCTGCAAACGCAGGCCTGAATGCCATCTGCACACGCCCCTGCCCACCCCAGTCCCCCACACAGCCCCTGTGGCCAGCTCAGGCCTCTAAGGCATGGGCACCTGTGTTTTTGGTGGATGCCCACAGCTGCCCTGAGATCTCGCACAGCACCAGACTCTGCAGGTGGAAGGTTCTAGCACTTACCAGAAACTGGGGTCTCCCCAGTGCTGTGAGCTTAATGGCTATGAAGCCGTCATCGCTGACTCTACCTGTCAGAAGCCACAGGAAAAGCCATGACAGCCCTGAGAGGTGCATGGAGGCAGCGCAGGGTGCGACAGGGAGGGCCAGGGCCTGGCCAGCCCACAGCAGGCTCCTGACCCCACCCCACCCCGCCCATGAAGTCCTTGCACATGGCGCTCTAGAGGCCCTGTGGAGATGGGAGGGGGCTCCGTGGCGGGGTTTCTGTTTCCATGCAGGTGTGGGACAGCAGTGGGCACAGGAGCTGCCTGTCCCCTGCCAAGCAGCCCCCACAGGCTCCCTGCCTCGGTTTCCTTCCCTGTGCCACCAGCACCACAGGCTGCTCACACGTGGGTCACAGGACCCAGAAACACCGAGCGTGGCTAAGACAGAGACACCCCAGCGAGGTCCCCTTGCTCAGGCCTCTGCCCCAGAGACCGAGTCTCTCAGGAACCTCTGACGCAAGCGCAGGCTCCTGCCCCCGTGCAGCCAGCCCGCAGTCCCACCCTGTCCTCCAGGCCAGCCCTCCTGCAGCATTCTTGCCCCTGACACTTCTTTCCAAGCAACAACCAGAAATGTTCCTTTAAAGTGAAAGCAGATCTTACCATCTCATCTTGTTTCACGCCACCCCAATGCAGGGCCTTCCCCTTCCACCTGCCCTGGGAGAACAGGCAATGGACGAGGAGAAGACGCCCCTCACCCTGATGGCCCAGCATTCAGCTGGCCACTCTGACCCTCAGCCCCCATCAGGAGGCGGCTTCCAAGCACTGCTCAGAAGTGCCAGGTGCAGCGGCATGCACCTATAATCCCAGCACTTTGGGAGGCCAAAGTGTAAGGTTCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACACCATCTCTACAAAAAATATGAAAATTAGCTGGGTGTGGTAGTGTGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGAGGGATCACTTGAGCCCAGGAGTTCCAGGCCAACCAGGGCAACATAGTGAGACCTCATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGCGCCTGCTGCCACGCCCGGCTAATTTTTTGTATTTTAGTGGAGACGGAGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTGAGCTCAGGCAATCCACCCGCCTTGGCCTCCCAAATTGCTGGGATTAGAGGCGTGAGCACTCCAGCCTGGGTGACAGAGCAAGATCCAGTCTCATTTGAAGCAAACAAACAAAAACATAAACAGGCCTGGGACCCGCTGCCCCTGACGGAGGGCTGCTGGGGCCAGCATGGGGCTGTGCAGGTCGGATGTTTCTAACACTGAAGGACATTGGGCCTTGCTGACCTCTGGCTTCTCTATCCCTGGAAACACCTGCTGCCCCCACCGCTGGCCCCCAGAGGCTGTGTCAGGGAAGGACAGAAGATGCGGCACCAGCTCCCTGAATGGAACCTCCACCCTGGGCTAAGTGTGGCTCGGCAGCTGACATGGACCAACTTCCTGCAGCTCCCGATCCTGGCCCTGAGCCAGGGAGAAGGGTGGGGGN
|
benign
| 321,968 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 18922937, gene PRODH (proline dehydrogenase 1). What disease(s) is it linked to if pathogenic?
|
benign
|
AGACATGTGAATGGGTGCCTCCCCCAGGTCCCAGCGCCACCACTCTGTGAGTACAGCTACCCAGGAGACCCCAGGGGAGGACTGCCCAGCTGAGCCCTGTCAACCCCAGAACCATGAGGCAGAAGCAGAGTGGCTGCTGCCGTTTCAGGCCTCTGAAGTTTGGGGTGACCTGATGCACAAGACAGATGACTTGGGGAAGGCCCCCAGACCCCCTCTCCTTGTGGTGTCTTAAGGCTCCGCGTGGGTCTCTGTCCCGCCAAGCACTCTGTGGACACTAGTGGGCTTGTCTTCTTCCCCCTGGACCACAGGGGGTCTGTGGGGCCATAGTGTGCAGTGATTTTGGTCATGTTAAGTTCCCAGGGTAGGCAACAAGAGACACACGTGGCAGGCTGAATTCCCTTCTTAGCGCAGCGCCCTGCTGAGCTGGGCCTCACTGAGGAGCGGAGGTGTTACCTGTGCGTTGGGGACTACCAAGTGCTTGGACAGCTTGGTCCTGCTGTCGATGAGGCTGCTCCAGTCCAGCAGGTCCATGGTGCTGAGGGAGGAGGCGCATCAGCAGAGGGGGCACCCCCACCTGTGGGTGCTAGGGTCGGGTGGGGGATCGAGGCCCAAACCTGTCCGTTCACCACCCACCACAAAACCCACCTCGGTGTTCAGTTTTAAAAGACAGAGGAAATATAAATATTGTTTTCTGTTTAAAAATTTAAAACCAGTGGCATGCGGGGGCTCAAACTTATAATCCCAGCACTTTGGGGGCTGCGGCGGGCAGGTCACTTGAGCCCAGGGGTTTGAAACCAGCCTGGGCAACATGGTGAGACCTGGTCTCTATAAAAAATAAATTAATTAAATAAATTTAAAACCAAAACACAAACAGTCCTGCATCTAGGCGGCTCTGAAAACACTGAGTACCCTAGGCTGTTTTGGGCTTGTGGAGGGGCCGAGCACAGGCAGCCAGGCAGGAGGCGGACACAGCTCCGGGCGGCCAGGGAGGACACAGTGGGCAAGGCTGGCAGTGTGTGAGGGGATGGCTCACTACTGCACCACCCCAGTCACCTCCCCACTTCAACTGGAGGCTCCTGGTGATCTGGGTCCCAGCCCCTGGCTCCAAGGATGGGGCATGGGGCTCTGATCCTTCACCTGCCGGCGTGGACTCCAGGGAGGGCTGAGAGTGCCACCTTTGCTCTGGACCCAGATAATTCTATAAAGAGCCCTCTATGGGGTCTGTGCTGGCCCTGTGTCTCCCCTGCCCAGCCCAGCCCCAGCCTCAGGGACTCCTGAAGCCATCAAGTCCTGCTGTGTGAAAAGCAGTTCCTTCAGCACTGTCATCCCAGGGCCCACCCTCTCAGGCAGGGCAGCCAGGACTGGGAGACGTCACTGGGGCTTGGCTGGAACCATGGCTGATGCTCGTGTCCTCTCAGCCTGGGGGCTGCTCTCACCCAGACACTCCCAGGGTCTCTGCCGTGAACCAGTCCTCAATCTCAGCCCTGGATGCGATGCCCAACTTTGCGACACTTTCCTTGAGAAGTGAGAAGGCCTGGATCAGCCCCATTCACTCATATTTTATCCTTCCCCCCACCCATTGGCCTCTGGTGCTGTTTCTGGCTTTATTACATCGTTAGTAAGAACAGGATCCATGTCTGGTTTGTTTCTACTGCATAGACAGGTCTATTCCCACCCCGCTGCTGATGCACGCCCACGCCCTGCAGGGCTGGGTCTCCAGCCCTCCTGCCAGCATCTCCCCTCTCTGTTCAGAGTCCCTCTGACCTCCTCCTCCCCACCAGGCCAACCCCAGCAGCTGCAGAGTGAGCCACATGCCCTGGGTGAGTTCCCAAAACCACCTCCGACCACTGCCCACCATGCCCCGTGTGACCCCACGGTGCCCACCCCCTCACAAGCCACAGGAGTGGGGAAGGGGAAGGCTGCCCCACCTGCAGCACCGCCACCTCCAGCTTGGTGTCCATGGCAGCCAGGCCCGCCTGCCCTTGCTCCACAGCCATTTGGTGAAAGAAGCACCTCCACTTGGCCAGCACCTCTGAGAACTGCAGCTGCAAACGCAGGCCTGAATGCCATCTGCACACGCCCCTGCCCACCCCAGTCCCCCACACAGCCCCTGTGGCCAGCTCAGGCCTCTAAGGCATGGGCACCTGTGTTTTTGGTGGATGCCCACAGCTGCCCTGAGATCTCGCACAGCACCAGACTCTGCAGGTGGAAGGTTCTAGCACTTACCAGAAACTGGGGTCTCCCCAGTGCTGTGAGCTTAATGGCTATGAAGCCGTCATCGCTGACTCTACCTGTCAGAAGCCACAGGAAAAGCCATGACAGCCCTGAGAGGTGCATGGAGGCAGCGCAGGGTGCGACAGGGAGGGCCAGGGCCTGGCCAGCCCACAGCAGGCTCCTGACCCCACCCCACCCCGCCCATGAAGTCCTTGCACATGGCGCTCTAGAGGCCCTGTGGAGATGGGAGGGGGCTCCGTGGCGGGGTTTCTGTTTCCATGCAGGTGTGGGACAGCAGTGGGCACAGGAGCTGCCTGTCCCCTGCCAAGCAGCCCCCACAGGCTCCCTGCCTCGGTTTCCTTCCCTGTGCCACCAGCACCACAGGCTGCTCACACGTGGGTCACAGGACCCAGAAACACCGAGCGTGGCTAAGACAGAGACACCCCAGCGAGGTCCCCTTGCTCAGGCCTCTGCCCCAGAGACCGAGTCTCTCAGGAACCTCTGACGCAAGCGCAGGCTCCTGCCCCCGTGCAGCCAGCCCGCAGTCCCACCCTGTCCTCCAGGCCAGCCCTCCTGCAGCATTCTTGCCCCTGACACTTCTTTCCAAGCAACAACCAGAAATGTTCCTTTAAAGTGAAAGCAGATCTTACCATCTCATCTTGTTTCACGCCACCCCAATGCAGGGCCTTCCCCTTCCACCTGCCCTGGGAGAACAGGCAATGGACGAGGAGAAGACGCCCCTCACCCTGATGGCCCAGCATTCAGCTGGCCACTCTGACCCTCAGCCCCCATCAGGAGGCGGCTTCCAAGCACTGCTCAGAAGTGCCAGGTGCAGCGGCATGCACCTATAATCCCAGCACTTTGGGAGGCCAAAGTGTAAGGTTCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACACCATCTCTACAAAAAATATGAAAATTAGCTGGGTGTGGTAGTGTGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGAGGGATCACTTGAGCCCAGGAGTTCCAGGCCAACCAGGGCAACATAGTGAGACCTCATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGCGCCTGCTGCCACGCCCGGCTAATTTTTTGTATTTTAGTGGAGACGGAGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTGAGCTCAGGCAATCCACCCGCCTTGGCCTCCCAAATTGCTGGGATTAGAGGCGTGAGCACTCCAGCCTGGGTGACAGAGCAAGATCCAGTCTCATTTGAAGCAAACAAACAAAAACATAAACAGGCCTGGGACCCGCTGCCCCTGACGGAGGGCTGCTGGGGCCAGCATGGGGCTGTGCAGGTCGGATGTTTCTAACACTGAAGGACATTGGGCCTTGCTGACCTCTGGCTTCTCTATCCCTGGAAACACCTGCTGCCCCCACCGCTGGCCCCCAGAGGCTGTGTCAGGGAAGGACAGAAGATGCGGCACCAGCTCCCTGAATGGAACCTCCACCCTGGGCTAAGTGTGGCTCGGCAGCTGACATGGACCAACTTCCTGCAGCTCCCGATCCTGGCCCTGAGCCAGGGAGAAGGGTGGGGGGCATGAGGCGGGATCAGGGAACAGGGAGCTGGGGCAGGAGAGGAGATGCCTTCTGGGAGGCAGTGGGGCCCCTCAGGAAGGGGCTGAACAGTGAGGGACCCAAGTGTGGTCAGAACCCAGCCCTCTGGCTCCTGCCCCAGCTTAGTGTTCACCCACCGGCACCTCC
|
AGACATGTGAATGGGTGCCTCCCCCAGGTCCCAGCGCCACCACTCTGTGAGTACAGCTACCCAGGAGACCCCAGGGGAGGACTGCCCAGCTGAGCCCTGTCAACCCCAGAACCATGAGGCAGAAGCAGAGTGGCTGCTGCCGTTTCAGGCCTCTGAAGTTTGGGGTGACCTGATGCACAAGACAGATGACTTGGGGAAGGCCCCCAGACCCCCTCTCCTTGTGGTGTCTTAAGGCTCCGCGTGGGTCTCTGTCCCGCCAAGCACTCTGTGGACACTAGTGGGCTTGTCTTCTTCCCCCTGGACCACAGGGGGTCTGTGGGGCCATAGTGTGCAGTGATTTTGGTCATGTTAAGTTCCCAGGGTAGGCAACAAGAGACACACGTGGCAGGCTGAATTCCCTTCTTAGCGCAGCGCCCTGCTGAGCTGGGCCTCACTGAGGAGCGGAGGTGTTACCTGTGCGTTGGGGACTACCAAGTGCTTGGACAGCTTGGTCCTGCTGTCGATGAGGCTGCTCCAGTCCAGCAGGTCCATGGTGCTGAGGGAGGAGGCGCATCAGCAGAGGGGGCACCCCCACCTGTGGGTGCTAGGGTCGGGTGGGGGATCGAGGCCCAAACCTGTCCGTTCACCACCCACCACAAAACCCACCTCGGTGTTCAGTTTTAAAAGACAGAGGAAATATAAATATTGTTTTCTGTTTAAAAATTTAAAACCAGTGGCATGCGGGGGCTCAAACTTATAATCCCAGCACTTTGGGGGCTGCGGCGGGCAGGTCACTTGAGCCCAGGGGTTTGAAACCAGCCTGGGCAACATGGTGAGACCTGGTCTCTATAAAAAATAAATTAATTAAATAAATTTAAAACCAAAACACAAACAGTCCTGCATCTAGGCGGCTCTGAAAACACTGAGTACCCTAGGCTGTTTTGGGCTTGTGGAGGGGCCGAGCACAGGCAGCCAGGCAGGAGGCGGACACAGCTCCGGGCGGCCAGGGAGGACACAGTGGGCAAGGCTGGCAGTGTGTGAGGGGATGGCTCACTACTGCACCACCCCAGTCACCTCCCCACTTCAACTGGAGGCTCCTGGTGATCTGGGTCCCAGCCCCTGGCTCCAAGGATGGGGCATGGGGCTCTGATCCTTCACCTGCCGGCGTGGACTCCAGGGAGGGCTGAGAGTGCCACCTTTGCTCTGGACCCAGATAATTCTATAAAGAGCCCTCTATGGGGTCTGTGCTGGCCCTGTGTCTCCCCTGCCCAGCCCAGCCCCAGCCTCAGGGACTCCTGAAGCCATCAAGTCCTGCTGTGTGAAAAGCAGTTCCTTCAGCACTGTCATCCCAGGGCCCACCCTCTCAGGCAGGGCAGCCAGGACTGGGAGACGTCACTGGGGCTTGGCTGGAACCATGGCTGATGCTCGTGTCCTCTCAGCCTGGGGGCTGCTCTCACCCAGACACTCCCAGGGTCTCTGCCGTGAACCAGTCCTCAATCTCAGCCCTGGATGCGATGCCCAACTTTGCGACACTTTCCTTGAGAAGTGAGAAGGCCTGGATCAGCCCCATTCACTCATATTTTATCCTTCCCCCCACCCATTGGCCTCTGGTGCTGTTTCTGGCTTTATTACATCGTTAGTAAGAACAGGATCCATGTCTGGTTTGTTTCTACTGCATAGACAGGTCTATTCCCACCCCGCTGCTGATGCACGCCCACGCCCTGCAGGGCTGGGTCTCCAGCCCTCCTGCCAGCATCTCCCCTCTCTGTTCAGAGTCCCTCTGACCTCCTCCTCCCCACCAGGCCAACCCCAGCAGCTGCAGAGTGAGCCACATGCCCTGGGTGAGTTCCCAAAACCACCTCCGACCACTGCCCACCATGCCCCGTGTGACCCCACGGTGCCCACCCCCTCACAAGCCACAGGAGTGGGGAAGGGGAAGGCTGCCCCACCTGCAGCACCGCCACCTCCAGCTTGGTGTCCATGGCAGCCAGGCCCGCCTGCCCTTGCTCCACAGCCATTTGGTGAAAGAAGCACCTCCACTTGGCCAGCACCTCTGAGAACTGCAGCTGCAACGCAGGCCTGAATGCCATCTGCACACGCCCCTGCCCACCCCAGTCCCCCACACAGCCCCTGTGGCCAGCTCAGGCCTCTAAGGCATGGGCACCTGTGTTTTTGGTGGATGCCCACAGCTGCCCTGAGATCTCGCACAGCACCAGACTCTGCAGGTGGAAGGTTCTAGCACTTACCAGAAACTGGGGTCTCCCCAGTGCTGTGAGCTTAATGGCTATGAAGCCGTCATCGCTGACTCTACCTGTCAGAAGCCACAGGAAAAGCCATGACAGCCCTGAGAGGTGCATGGAGGCAGCGCAGGGTGCGACAGGGAGGGCCAGGGCCTGGCCAGCCCACAGCAGGCTCCTGACCCCACCCCACCCCGCCCATGAAGTCCTTGCACATGGCGCTCTAGAGGCCCTGTGGAGATGGGAGGGGGCTCCGTGGCGGGGTTTCTGTTTCCATGCAGGTGTGGGACAGCAGTGGGCACAGGAGCTGCCTGTCCCCTGCCAAGCAGCCCCCACAGGCTCCCTGCCTCGGTTTCCTTCCCTGTGCCACCAGCACCACAGGCTGCTCACACGTGGGTCACAGGACCCAGAAACACCGAGCGTGGCTAAGACAGAGACACCCCAGCGAGGTCCCCTTGCTCAGGCCTCTGCCCCAGAGACCGAGTCTCTCAGGAACCTCTGACGCAAGCGCAGGCTCCTGCCCCCGTGCAGCCAGCCCGCAGTCCCACCCTGTCCTCCAGGCCAGCCCTCCTGCAGCATTCTTGCCCCTGACACTTCTTTCCAAGCAACAACCAGAAATGTTCCTTTAAAGTGAAAGCAGATCTTACCATCTCATCTTGTTTCACGCCACCCCAATGCAGGGCCTTCCCCTTCCACCTGCCCTGGGAGAACAGGCAATGGACGAGGAGAAGACGCCCCTCACCCTGATGGCCCAGCATTCAGCTGGCCACTCTGACCCTCAGCCCCCATCAGGAGGCGGCTTCCAAGCACTGCTCAGAAGTGCCAGGTGCAGCGGCATGCACCTATAATCCCAGCACTTTGGGAGGCCAAAGTGTAAGGTTCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACACCATCTCTACAAAAAATATGAAAATTAGCTGGGTGTGGTAGTGTGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGAGGGATCACTTGAGCCCAGGAGTTCCAGGCCAACCAGGGCAACATAGTGAGACCTCATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGCGCCTGCTGCCACGCCCGGCTAATTTTTTGTATTTTAGTGGAGACGGAGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTGAGCTCAGGCAATCCACCCGCCTTGGCCTCCCAAATTGCTGGGATTAGAGGCGTGAGCACTCCAGCCTGGGTGACAGAGCAAGATCCAGTCTCATTTGAAGCAAACAAACAAAAACATAAACAGGCCTGGGACCCGCTGCCCCTGACGGAGGGCTGCTGGGGCCAGCATGGGGCTGTGCAGGTCGGATGTTTCTAACACTGAAGGACATTGGGCCTTGCTGACCTCTGGCTTCTCTATCCCTGGAAACACCTGCTGCCCCCACCGCTGGCCCCCAGAGGCTGTGTCAGGGAAGGACAGAAGATGCGGCACCAGCTCCCTGAATGGAACCTCCACCCTGGGCTAAGTGTGGCTCGGCAGCTGACATGGACCAACTTCCTGCAGCTCCCGATCCTGGCCCTGAGCCAGGGAGAAGGGTGGGGGGCATGAGGCGGGATCAGGGAACAGGGAGCTGGGGCAGGAGAGGAGATGCCTTCTGGGAGGCAGTGGGGCCCCTCAGGAAGGGGCTGAACAGTGAGGGACCCAAGTGTGGTCAGAACCCAGCCCTCTGGCTCCTGCCCCAGCTTAGTGTTCACCCACCGGCACCTCCN
|
benign
| 321,974 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 19178649, gene SLC25A1 (solute carrier family 25 member 1): what disease(s) if pathogenic?
|
pathogenic
|
CCAGAGGAGTGTTTCCAAAGACACTGGCTGCGCCTGCAATAGCTCCGAAGACCCCAGTGATCAGAGGGTTCATGGGCTTGTTGGGGTTGTCCCCTGGATATAGGAGGGGTGAGGTGGGTCAGAGGGTGCCGGGAGGGGCCTGGATCAGCACTTCAAAAGGTGGGTGCCCGCCACCCAGGGGTGGCCCCAAGGAGAGGAGAGGAGCTGGCCATGTGCAGAGATGGGGCCCTGTGATGCAGACACACCTCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGCGGATGGCCTGGTTCGAGCCCTGCTTCAGGACAGTGGCTGTGAGGCCCTGGTACGTCCCCTTCAGCCCTGCGGGAAGGCAGGCACGGGGTTACCCTGCAGCCTCTCAGGCCCCGGTTGGGAATTGGTGTGTGTGGGGGGTGGGTGTTGCACAAAGCCCAAGGCAGGATGGGAGGTGCAGGCCCTTCCCACCCTGGCCCAGGTCCCTGAGCCCTATCAGGAAGGTCGAGTGGCTCACCTTGTTCCCGCACAATCTCCCTAACCCCGTGGAAGAATCCTCTGTACTTGGGGTTTGGGGAGGTCTGGTCGTGGATGAACTTCACCTGAGAGAGAGAAGCAAAGGCGCAGGTTCTCGGCTGCCACCTGGGTGGGTCCTGGCTAGCTGGCAGGCCCAGGGCCCATCCAGGGTGGAGGGAACTGGGAACTCTTCCCCAGGAAGCAGTGCAGCCAAGGCCGCCCTGGGCTGCCCACACGGACCATGCCCCGGGACACAGGGCAGCCCACACGGACCATGCTCTGGGACACAGGGCAGCCCTGTGAGCAGCCTCTCCCTTTATGTTTGCTGCTCTTTTCCAGTTTTGGCAGTGAAGGTGTCATTTTGTTTTCTGCTTTATAAAAGTATTTTTTAAAGACTTTAAGGCTGCCTTTAGCATAGACTCAGCCTCCACGGGTGGCCCTTCGTGGCAGGCGTCCTGCCCCAGGGCCCCGCGGTCACCCCGCCGGCCTTCCCTGGCGTCCAGGAGACCCTCCCCAGCTTGCCGGTTGCCCCGGGAGCACCGGGCCAGCGGGGCCGCCCGTCTCCGTACTCCCTGCGTGTCCGGGGTCCTCGCCAGGACCTTCCCCACCTTGATGGTCTCCATGGGGCACACGACCACCACGGCCTCGGCCACGCCAGCGCCCAGGCCGCACAGCAGCCCACGCGTGCTGTCCAGCCGTCCCTGGGCATCCCGCATGTGGTTGCTGAGGAACTCGAACATTCCAAACCTGGAGGCGGGAGGCGGGTGAGAGGGGCTGCCGCGGCCGAGCCCCCCTCCCGCAGCAGCCACCGGCCGGGCCTCACCTGACGGCCGCCTTGGGGATGGAACCGTAGAGCAGGGAGCTAAGGCCGCGGTACAGGCCCAGGACGCCATGGCTGCGAACCGTCTGCCGCACGCAGTCCCCTGGGGGAGGGGGCGGTCAGGACCCCACGGCCCTCGGTGCCGCCGCCCTGGGTACCCGCCCCCCGCGGCGCCGCGGCCTCCCCCTCCTCACCGATGCCCCGGTACCGCGGCGGGTGCGAGCGCTCGTCCAGCTGCAGCTGCGTCTTCACGTACTCGGTGGGGAAGGTGATGCAGATCTCGATGCCACCCGCCAGGCCGCCTGCAGGGACCGGGAACCCGCTCCTGAGACTCCCGCCCGGCCGCTGGCGCTCGGGCCCCTCCCCCGTCCCGGACTTCGGTCGGCGCGGCCGCCGCGCCAGTGCCGCGGGGAACATAGGCTGGGGCCCCACGCCCCCATGCCCTCACCCCGTTGTCCCGGCGAGGCGCAGGGGGTGACAGACGGGAGGCGGGCGAGTCCCAGCGCGCCGGGTGGGGACCAGGACCGCGCCTCCACGACTCCCCAGCCCACGGCCCAACCCGGAAGTGGGGCGGGGCCTCAGCGTCCCGGGCCCACCCAGAAGCGCGGCGGGAGAGGGGTCCGCGTCCCGGAGGGGCCCACCTGCCAGGATCGCCTTCCCCGGGTGCGTCAGCTTGGCCTTCCCGGACGCGGGCGCGGCGGCCGCCAGAGCGCGCGGGGCGCGGGGCGCGGGCATGGCGGGCGGGAGGCGGGGCGCCCTGTGGCGGCTTCGGGTCCGAGACTCCAGAACTCCGCGCTCGGTCCGCGGTGGCGGCGGCGGCCGGTTATGGTCCCAGGGGCGGGGCGGCCGCGTCAGCTCCAGGTCCCGCCCCGCGTGGTCCGAGCCAGGCCCCGCCCCCAGCCCGCCCCGTGCGGGCCGGGAAACTGAGGCCTGGGCGGGGCGCGCCGAGGCAGGCGTAGGGGCGGGGCCAAAGCGCAGCCAATGGCCGAGGCCGAGTCCCTGGGCGACCGCGAGCGGCGGGACGGGGGCGGGGCTGCGGGAGGCGGAGCCGTGGCCCAGCTCCGAGCAGTGGGTCAAGGTGCACTGTGTGCCGCGCCGCGGGATAGCGGGCCTCGGGTCTGCGCGACTGTCGAGAGCGGCGGGATCCCCAGGGATCCCGGAGGCCAGGGGCACACCCTCCCCGAAAACACGTGGGGCTAGCCCAGTCCCAGAGGAACTCTAACGTTTCAAACCTGGAGGCGGGAGGCGGGAGGCCGGTGAGAAGGGGCTACGCCGCCGGGCCCCCCTCCCGCAGCAGCCACGGGCCGGGCCTCACCTGCCGGTTCCCACCCACACCTTTCCCGGTTGTAGTTTCTGCGCTCAGCGAACAAGGTCAGGAAAGACCACAAATGCAAGCGGCTGTATTCTCCTAGGCAGCTTGTCTGGGCAACGGAGGTCCCACACCCCAAAGAGGACCCAGCAAATCTTTAATGGACTGCGGGGCCTAGGAAACTGGCCCGTCCCTCCTACCCATACCAGCACCAAGCAGAGCACCTTTGCCTGGATAAACCGACTTTAATATTTATGATTGCCAAGAGGCTGAGAGTCCTTTTATGAGGTCCGGTACCTCCAAACAAGACGTGTTCATGTAGTCTTCAAACTGGCCTGGAGGGGGCAGCTCCAGCCAGTCGGAGGCGCCCAGGAGGAAGGCCTGGCTCCAGCAGGAGGGCCCACAGTCCAGTCTCTGTTGTCGGCTAAAGCTGGTCTTGCGCCGTCAGCCTCTACCCTGGCCTCCCCAGGCTCTGGGATGGCTCAGAGGTTGCCGTCATTGGGTTTCAGCAAAAATAAATATTGTCCAGGTGTCCCTGCCTCCCATTGCGTCCCCTGTGCTGCTGGAGTGACATGCTCCTTGGAGAAGTTAGTAACTCTGCAGGTAGGGTGGGTGGTGACAACGCCCACTACACGCGGAAGTTGTACATTGGAGGCTGGCGAAGTTGGGAGCAGAGGCATATCCATAGGGGAAGCTGGCAGGGGCTGGGCCCACGGCAGGGCCTGCAGAGGGGGAAGCCCACAATGAGCAGAGCTCTTCCTGCCCATGGGGGTCCTCTCCTGGCTGCCCCTGAGTAGCCCGGGGCCCAGGGAGCAGGGTCTATAGGACCAGCCCTTACCACCCAGACGCTGAGGCCCCAAGAGAGCAGGCATCCAGAGGCAAGGAGCGTGGGGTCAGCCAGAGAACCTGGCCTGGCTAGAGGATAAGCTAGTCTCCAAATGGGACACTTACTTAGTGCAATCAGCTGGGTCTCATTCATGCCCATCAAAATCTAAAAAAACCAGAATGACATTAATGGTGGAAGGACACACTCAGCCGGACGCTGGAGACCCGCCGGCGTGCTGCACACTCACACCACACCCTCAGGCCTGTGTTTGCCCCACAGTGTCCAAGCACCCCACAGCCTCTCCAGTCTGCTCGACAGCCAGGCTGCCCTGGGCAGGTTCTCAGGTGCAAAGCCCCTCCCAGCACACACCAGCAGCAGCCTTGCTGTCCAGGGGCCAGGCCCAGCAGGACACAGCAGTAGTTCACAGCTAGGCAGGCACCCCTATCAGAAGGCAGGCATCCTTACAGCAGGGAGGACAGCGGCCGTGCCAACATTCCTGGGCGTACACTTCTCCACACCCAGTAGCCACTGGGATCCTTCCAGCCCCCACCCATCTATTCCCATCCCCATCCAAAGCCCAGCCAGGTAAGGGCAGTGGGACTTTGACTCCCTCCCTGCTCCCT
|
CCAGAGGAGTGTTTCCAAAGACACTGGCTGCGCCTGCAATAGCTCCGAAGACCCCAGTGATCAGAGGGTTCATGGGCTTGTTGGGGTTGTCCCCTGGATATAGGAGGGGTGAGGTGGGTCAGAGGGTGCCGGGAGGGGCCTGGATCAGCACTTCAAAAGGTGGGTGCCCGCCACCCAGGGGTGGCCCCAAGGAGAGGAGAGGAGCTGGCCATGTGCAGAGATGGGGCCCTGTGATGCAGACACACCTCGGTACCAGTTGCGCAGGGAGGTCATGACGAAGAAGCGGATGGCCTGGTTCGAGCCCTGCTTCAGGACAGTGGCTGTGAGGCCCTGGTACGTCCCCTTCAGCCCTGCGGGAAGGCAGGCACGGGGTTACCCTGCAGCCTCTCAGGCCCCGGTTGGGAATTGGTGTGTGTGGGGGGTGGGTGTTGCACAAAGCCCAAGGCAGGATGGGAGGTGCAGGCCCTTCCCACCCTGGCCCAGGTCCCTGAGCCCTATCAGGAAGGTCGAGTGGCTCACCTTGTTCCCGCACAATCTCCCTAACCCCGTGGAAGAATCCTCTGTACTTGGGGTTTGGGGAGGTCTGGTCGTGGATGAACTTCACCTGAGAGAGAGAAGCAAAGGCGCAGGTTCTCGGCTGCCACCTGGGTGGGTCCTGGCTAGCTGGCAGGCCCAGGGCCCATCCAGGGTGGAGGGAACTGGGAACTCTTCCCCAGGAAGCAGTGCAGCCAAGGCCGCCCTGGGCTGCCCACACGGACCATGCCCCGGGACACAGGGCAGCCCACACGGACCATGCTCTGGGACACAGGGCAGCCCTGTGAGCAGCCTCTCCCTTTATGTTTGCTGCTCTTTTCCAGTTTTGGCAGTGAAGGTGTCATTTTGTTTTCTGCTTTATAAAAGTATTTTTTAAAGACTTTAAGGCTGCCTTTAGCATAGACTCAGCCTCCACGGGTGGCCCTTCGTGGCAGGCGTCCTGCCCCAGGGCCCCGCGGTCACCCCGCCGGCCTTCCCTGGCGTCCAGGAGACCCTCCCCAGCTTGCCGGTTGCCCCGGGAGCACCGGGCCAGCGGGGCCGCCCGTCTCCGTACTCCCTGCGTGTCCGGGGTCCTCGCCAGGACCTTCCCCACCTTGATGGTCTCCATGGGGCACACGACCACCACGGCCTCGGCCACGCCAGCGCCCAGGCCGCACAGCAGCCCACGCGTGCTGTCCAGCCGTCCCTGGGCATCCCGCATGTGGTTGCTGAGGAACTCGAACATTCCAAACCTGGAGGCGGGAGGCGGGTGAGAGGGGCTGCCGCGGCCGAGCCCCCCTCCCGCAGCAGCCACCGGCCGGGCCTCACCTGACGGCCGCCTTGGGGATGGAACCGTAGAGCAGGGAGCTAAGGCCGCGGTACAGGCCCAGGACGCCATGGCTGCGAACCGTCTGCCGCACGCAGTCCCCTGGGGGAGGGGGCGGTCAGGACCCCACGGCCCTCGGTGCCGCCGCCCTGGGTACCCGCCCCCCGCGGCGCCGCGGCCTCCCCCTCCTCACCGATGCCCCGGTACCGCGGCGGGTGCGAGCGCTCGTCCAGCTGCAGCTGCGTCTTCACGTACTCGGTGGGGAAGGTGATGCAGATCTCGATGCCACCCGCCAGGCCGCCTGCAGGGACCGGGAACCCGCTCCTGAGACTCCCGCCCGGCCGCTGGCGCTCGGGCCCCTCCCCCGTCCCGGACTTCGGTCGGCGCGGCCGCCGCGCCAGTGCCGCGGGGAACATAGGCTGGGGCCCCACGCCCCCATGCCCTCACCCCGTTGTCCCGGCGAGGCGCAGGGGGTGACAGACGGGAGGCGGGCGAGTCCCAGCGCGCCGGGTGGGGACCAGGACCGCGCCTCCACGACTCCCCAGCCCACGGCCCAACCCGGAAGTGGGGCGGGGCCTCAGCGTCCCGGGCCCACCCAGAAGCGCGGCGGGAGAGGGGTCCGCGTCCCGGAGGGGCCCACCTGCCAGGATCGCCTTCCCCGGGTGCGTCAGCTTGGCCTTCCCGGACGCGGGCGCGGCGGCCGCCAGAGCGCGCGGGGCGCGGGGCGCGGGGCGCGGGCATGGCGGGCGGGAGGCGGGGCGCCCTGTGGCGGCTTCGGGTCCGAGACTCCAGAACTCCGCGCTCGGTCCGCGGTGGCGGCGGCGGCCGGTTATGGTCCCAGGGGCGGGGCGGCCGCGTCAGCTCCAGGTCCCGCCCCGCGTGGTCCGAGCCAGGCCCCGCCCCCAGCCCGCCCCGTGCGGGCCGGGAAACTGAGGCCTGGGCGGGGCGCGCCGAGGCAGGCGTAGGGGCGGGGCCAAAGCGCAGCCAATGGCCGAGGCCGAGTCCCTGGGCGACCGCGAGCGGCGGGACGGGGGCGGGGCTGCGGGAGGCGGAGCCGTGGCCCAGCTCCGAGCAGTGGGTCAAGGTGCACTGTGTGCCGCGCCGCGGGATAGCGGGCCTCGGGTCTGCGCGACTGTCGAGAGCGGCGGGATCCCCAGGGATCCCGGAGGCCAGGGGCACACCCTCCCCGAAAACACGTGGGGCTAGCCCAGTCCCAGAGGAACTCTAACGTTTCAAACCTGGAGGCGGGAGGCGGGAGGCCGGTGAGAAGGGGCTACGCCGCCGGGCCCCCCTCCCGCAGCAGCCACGGGCCGGGCCTCACCTGCCGGTTCCCACCCACACCTTTCCCGGTTGTAGTTTCTGCGCTCAGCGAACAAGGTCAGGAAAGACCACAAATGCAAGCGGCTGTATTCTCCTAGGCAGCTTGTCTGGGCAACGGAGGTCCCACACCCCAAAGAGGACCCAGCAAATCTTTAATGGACTGCGGGGCCTAGGAAACTGGCCCGTCCCTCCTACCCATACCAGCACCAAGCAGAGCACCTTTGCCTGGATAAACCGACTTTAATATTTATGATTGCCAAGAGGCTGAGAGTCCTTTTATGAGGTCCGGTACCTCCAAACAAGACGTGTTCATGTAGTCTTCAAACTGGCCTGGAGGGGGCAGCTCCAGCCAGTCGGAGGCGCCCAGGAGGAAGGCCTGGCTCCAGCAGGAGGGCCCACAGTCCAGTCTCTGTTGTCGGCTAAAGCTGGTCTTGCGCCGTCAGCCTCTACCCTGGCCTCCCCAGGCTCTGGGATGGCTCAGAGGTTGCCGTCATTGGGTTTCAGCAAAAATAAATATTGTCCAGGTGTCCCTGCCTCCCATTGCGTCCCCTGTGCTGCTGGAGTGACATGCTCCTTGGAGAAGTTAGTAACTCTGCAGGTAGGGTGGGTGGTGACAACGCCCACTACACGCGGAAGTTGTACATTGGAGGCTGGCGAAGTTGGGAGCAGAGGCATATCCATAGGGGAAGCTGGCAGGGGCTGGGCCCACGGCAGGGCCTGCAGAGGGGGAAGCCCACAATGAGCAGAGCTCTTCCTGCCCATGGGGGTCCTCTCCTGGCTGCCCCTGAGTAGCCCGGGGCCCAGGGAGCAGGGTCTATAGGACCAGCCCTTACCACCCAGACGCTGAGGCCCCAAGAGAGCAGGCATCCAGAGGCAAGGAGCGTGGGGTCAGCCAGAGAACCTGGCCTGGCTAGAGGATAAGCTAGTCTCCAAATGGGACACTTACTTAGTGCAATCAGCTGGGTCTCATTCATGCCCATCAAAATCTAAAAAAACCAGAATGACATTAATGGTGGAAGGACACACTCAGCCGGACGCTGGAGACCCGCCGGCGTGCTGCACACTCACACCACACCCTCAGGCCTGTGTTTGCCCCACAGTGTCCAAGCACCCCACAGCCTCTCCAGTCTGCTCGACAGCCAGGCTGCCCTGGGCAGGTTCTCAGGTGCAAAGCCCCTCCCAGCACACACCAGCAGCAGCCTTGCTGTCCAGGGGCCAGGCCCAGCAGGACACAGCAGTAGTTCACAGCTAGGCAGGCACCCCTATCAGAAGGCAGGCATCCTTACAGCAGGGAGGACAGCGGCCGTGCCAACATTCCTGGGCGTACACTTCTCCACACCCAGTAGCCACTGGGATCCTTCCAGCCCCCACCCATCTATTCCCATCCCCATCCAAAGCCCAGCCAGGTAAGGGCAGTGGGACTTTGACTCCCTCCCT
|
pathogenic
| 322,043 |
Evaluate the clinical significance of the mutation at chromosome 22, position 19724156 in gene GP1BB: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Bernard_Soulier_syndrome']
|
CAAGTCCAGGGCTGTGAGGGCTCCGGAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGG
|
CAAGTCCAGGGCTGTGAGGGCTCCGGAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGN
|
pathogenic
| 322,164 |
Mutation at chromosome 22, position 19724285, within GP1BB: benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Bernard_Soulier_syndrome', 'Macrothrombocytopenia', 'Thrombocytopenia', 'likely other unspecified diseases']
|
CAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCTGTGGACGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGG
|
CAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCCCCTCCCAGGTCATTGTGTCTGTTTCCGAGGGGCCTGGACCGTAGCCCCCGCCCAGCTGGCCCTCTCTGACCTTGGGGGATCAGGAGCGAAGTTGGGCGGGACTTCAGAGATCCGCCTCCCTTGCCCTTCCCCCGCCCCCGGACGGTCACAGCACCCAAACCGCAGGCCCTGCTCTGGCAGGCAGGCAAAGCTAGGCAGAAGAGGATTCCCAGGATCCTGGGTCTGTTCCCTGCCCCAGTGCTGCAGAACGGACTTGGGAGCCCTCCTTTGCCTGCTCCCGCGGGTCACCCAGCGAGTGCTGAGACCCCATTTTCTGTCGAGGCGGGCCGAGTCTTCCCTTATCCCCAGACGCCTAGCGGGCAGGGTTGGGCTGAATCAAATGGGAGCCCTCCAGACATAAGGAGGCCAGAGGCTGCAAGGAGCGGGGTCGTGACCGCTTACACCCCTTCTCCACAGCCCGGCCCGACCTGGAGGGCCCCCGGGGCACTGGGCGGTGAGCCACCTCCTGGCAACTCTCGGTGCCGTCCCCTGCCCTCGCTCGAGGCCTCTTCTCCCCAGCACCGCTGTGGTGTGCCGGGATCCTGAGCCTAGGCCTCCCGATGTTCCCACCCGCATGATCCCTTCCCGCCACACGATGCTCCGTTTTCTTCCGTTGTGAATGCCGCGTCCTGTCCTGGTGACAGGAGAACAATGTTGGTGAACGTCGCAGCGGGTGTCCGAGTGCTCCGTGTGCCCCTGAGAGCGGGTGGGAGCGGAAGCCTGAGCGGCCTGCGGCCTCCGGCGATAGTGTGCTATCTGCCGCTGCAGCGCGCGTCCGCGCGGCCTCTGGGCTATTTCTGGCCAGGCCGCAGCACTGTGGTCGGTGCGGGCGTGGCAGGGGCGGGGCGGCCTTATCGCTCGGCTCTCCCGCCTACGCCTCCCGCTGCAGAGTAAGCCGGGCTGCCGTCTTCTCGCCATGGGCTCCGGTGAGTCTGGAGTCCGGTCGGGCCCCCGGCTGCTCCCTAGGCCGACCCGGGTTGAGAGGAGCTCTGGTCGTTTGGCTGCAGCTGGGAGAGACTTGGGTCAGACTTAGAGGGGACTTCCAGCCGGCGTGCGGGGTGGTCAGGGTGGAGAGGCTGGCGGGCTACCGGGACGCCGGGCATCAGGGGCTGGATGGAGCCGGGCCGGCAGTCTGGGTACTCAGAGATGTCGCCCAGGTGCCCGCCGACCGCTCGGCTTACTGCGGCGCTTCCCTTGCAGGGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGCCGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGGCGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTGGTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCGCTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTGCGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCGCCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTTGCGCTCCCGGCCCGCTCTGCTGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTTGGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCCCGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGAGCCGGAACCGACGAGTCCTGAGGAGAGAACCGGTGCGTCCTGAGGAGAGAACCGGCGCTGGGCAACACGGGCCTGCAAACTCGACAGGACCCTGCCCGAGGGGCCCTCGCGCCAACCTGGACCGGTCCCCGCCTCCTCCGCTGCCCAATCTCTCAGACCCACCCCACCTGCAGGCCCAGACCACGTGGGACAGAACTCCTGCCCACCCTACCCCGAGGGAGGCGAACCCGCACTTCCAGGCTTGGGAGGACCATGGGGCACAATGCGGTCCAGACCCTGCTGCGTCTCCCTTCCAAACTCTGGTGCTGAATAAACCCTTCTGATCTGGTCTTCTCTGCACGACTGACCTGGAAATTCCCCTCGCCAAACTCAGGAAAAGGCCCCAGGAGGCGGTTCAAGGGGACACAAACACATCCTCACATGCCCACCCTAACCTCAGGGGCAGACAGGAGTCAGTGGGTGACCTCTCCCCTTCCAGACACACTCCCAAAAGGCCACATGGGAAGGCATGAGAGAGATGCTAAGTGATAACGTGGGGGCCAGTGAGGACGTTGTGGGGACACTGAGGACCCTGTGGGGGCAGTGAGGATGCTGTGGGGATGCTGTGGGGACAGTAAGGACACTGGGGGCAGTGAGGACGCTGTGGACACTGCGGACGCTGTGGGGACAATGACGCTGTGGACAGTGAGGACGCTGTGGGGGCGGTGAGGACACTGTGGAGTGAGGACACTGGGGGCAGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGGTGAGGACGCTATCCGGGGCGGTGAGGACGCTGTGGACGGTGAGAACGCTGTGGGGACACTGAGGATGCTGTGAGGACGCTGTGGGGGCAGTGAGGACGCTGTGGACCGTGAGGACGCTGTGGGGATGGCGAAGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGGTGAGGACGCTGTTGGGGCAGTGAGGACGCTGTGGACCGTGAGGACTCTGTGGGGGCGGTGAGGACTCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGACAGTGAGGAGGCTGTGGAGACAATGGGGACGCTGTAGACAGGACGCTGTGGAGGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGACACTGACGACGCTGGAGGTAACAATGAGGACATTGGGGACAATGAGTACACTGTGGGGGCGGTGAGAACGCTGTGGACACTGAGGACGCTGTGGGGGCGGTGAGGGCGCTGTGGACGCGGTGAGGACGCTGTGGGGGCGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGGCGCTGTGGGGACGGTGAGGACGCTGTGGACGCTGTCGGGGCAGTGAGGACGCTGCGGACGTTGAGGACGCTGTGGGGGCGATGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGGGACGGTGAGGACGCTGTGGGGACCGTGAGGACGCTGTCGGGGCCGTGAGGACGCTGTCGGGGCGGTGAGGACGCTGTCGGGACGGTGAGGGCGCTGTGGACGCGGTGAGGGCGCTGTGGGGGCGGTGAGGACGCTGTGGN
|
pathogenic
| 322,169 |
Variant at chromosome position 19761056, chromosome 22, gene TBX1 (T-box transcription factor 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
GGAGGTGGAGGCGGGAGGGGCCAAGGGCAGGGGCAGGGCTGGGCTCCGGCAGCCACTCGCTGCTTCATGGGTGCCCTGCCACCTCGGGCTAGGGCTGGGTGCTGCTGGCATAGACACCTCTCCTCGGGGGGCTGTAGAAGCTGACGGTGGCTTCGCTGCACAGAGAAAGGCCGTGCCTTGGCAGGAGCAACGGGATGTTCAAGGGGCGTTGGTCATGGAGGTCCCTGGGAATGGAGGAAGGGGGCAGGGAGCTTGGAAAGCAAGAGGGCCCTGCACTTCCAGGGTGCTCCACCCGTCTGGGCCCCTCGGCTGCTACCAGCCCCAAGTGGGGGGCCCATGACGCCATAATCCTCTGGGCCAGGGGCCCCTGGCAGTGAGTGGCACCACAGGCCCCCGCCCCCGGACTCCGTGGGCTGGGCTGGGCTGGGCGCGGTGCGGCTGGGCACACGCAGTCGGAGGCGGCGCCGGCCAGGCCGCCGGGCGCCTATGGACGCGCGGAGCCCGCTGTCTCCCCGAGCCAGTGCGTTCAGCATCGCCTCTCTGGTTGCAGCGGAGGCGGCGGAGCGCACCGCCCACCAGGGCTCAGGGTCCTCCGACCGGGTGAAGCTTCGCTGGCTGCCAGGATCCCCGGCAGGGATGCACTTCAGCACCGTCACCAGGGACATGGAAGGTGAGCCTCCAGGCCGTGTCTACACTGGCCCGCCCGCCAGACCCCCTGCCTCAGCTGCTGTGGGGCCCGGGTGCAAAGTAGGTGGAGGCAGCTCTTGGTAGCGTGGGCTCCAGGCTTCTGGCTGCGATTCTGGGGCAGAGAGGAAGAGCCGGCATCCCGCCCACAGCCTGTCCCCTCACCAGCCTGGGGGCCCAGCTTGGAGATGGGCACTCAGGTATACACAGGCCCGGAAGAGGGCGAGTGAGGCTGGGAAGGAGAGCAGAGGTGGCCGTGAGCCTGGAGAGGGGGGAGGAAAGTTAATAAGAGAGGAGAGAGCGGGAGAGTTTCACAGAAGGAGAGAAAGCCTCGAGGAAGCCGTGGAGACGAAATTGAGCAAAGGGGAGAAAACACAAAAAACCCAAAGAAGAAGGTAGGGGAGAAACAGAAGGACACGAAAAGGCAATAAAAAGCAAGAGCGAAAGAGAAGAGAGAAAACGAAGGGAAAATTTAAGACAGAAAGCGAAGTCATAAAAAAGAAAAAAAGGAAAGACTTTAGTTTTTTTTTTTTTAAAAAGAAAAACATAAAAAACAAAGGACATACAAAAATAAGAGGAAAGGCACCGACTAAAAGAAAGACAAAGAATGATTAAAAATAAAGTGAAAAGGAAGGCGAGGATGGAGGAAAAGGGGAAGAGGCGGAAAGTAAAACAGAAATAAAGAGAAACTACAGAGATAGGGGAAGAAAAAAGATGATCGGGAGGGAAAATTTAAATGAGGACGACAAAGGTAAAATAACAAATTAGGAAAAGAACGTCTGGGAGAGAGAGAGGAGAAACGCACGCGGGCGGGCGGCAGAGCGAGGGCCGGCCGACGGGCCCGGCGCACCGGTGAGCCGGTCCGGGCGGTCGGGGGGCCCCGGGCCGAGCGAGCCGCGGCGGGCGGGCTGGGGGCCGGGGAGGGGGAAGGGGCGGGGGAGGGGCGAGGGCCGGGGGAGGGATCTAGTCCATTGTCTCCGCGCGGGGGTGGGGGGGCCCCGGGCGGGGCGGGGCGGGGCGCCTCCTCGGGGCCGGCCTGCGGTGTGGGGCTGCACGGCCCGGGGCGCACGCAGCGCGGCGCCCGCCACTCGGCCCGCGGCGCGGGGCAGCGCTCAGCTTGGTGGCGGGGGCGGCGGCGGCGGCCCGCGGGTCATGATCTCCGCCGTGTCCAGCCCGTGGCTCACGCAGCTCTCGCATTTCTGCGACGTTGCAGCCTTCACGGCCAGCAGCCTGAGCAGCCTGGGGGCCGCGGGGGGCTTCCCGGGCGCCGCGTCGCCCGGCGCCGACCCGTACGGCCCGCGCGAGCCCCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCGCCGCCCCCGGCGCCCCGGGCCCGCCGCCGCCGCCGCACGCCTACCCGTTTGCGCCGGCCGCCGGGGCCGCCACCAGCGCCGCCGCCGAGCCCGAGGGCCCCGGGGCCAGCTGCGCGGCCGCAGCCAAGGCGCCGGTGAAGAAGAACGCGAAGGTGGCCGGTGTGAGCGTGCAGCTAGAGATGAAGGCGCTGTGGGACGAGTTCAACCAGCTGGGCACCGAGATGATCGTCACCAAGGCCGGCAGGTCAGGGCGCCCCTCCCCACGCCGCGACCCTCCCCACGTGCTGCCGCCAGGGCTGCGGGCCTCCGCCTGATCCGCGCGAGCGGGGCCGAAAGCCGGGTCGGGGGCGCGGCCTGGCCACCTGCGGGCCCCTCTGGGCCCCGCTGCCTCCTTCGCTGTTCGCCGTCCCGGCTCCGGCGACAGCCGCCCGGCGCTCCCCTCCTAACACCTATCCTCCGCCGGGGCGGGAGGAGACGGCGCGGGCCGCACGGGAACGGCGAGGAGCCCCGCGGGACTCGCCCGCCCGCCCCGCAGCCCCAGGACGCCGCGCGGCCCAGAAACCGGCCCGGCTTGGGGCGCACCCGGCTGGGGGCAGGCAGCGGCGTCCAGGGGGCCTCACCGCCCGGCCGACTCCTAGTAAATCCCACCTCAAGAAAACTCTGGTTCAGTTCTGGAGTTCAGTCTATGCGGGCAAGATAAAGAGCGGCAGCCGGGCAACTCTCTGGACACTTTCAGGAGAGGATTACCCTTAAAAACAGCGTGCACTGTTGCGTGGAAGTTGCTACCCAGTTTCCTTCAACCTAGATCCCTATAGTTGTGGGGCCTGGCTCTGTATCCAGCGGCCCGTCACCTCCCAACCGGCCTGTATTTGTTTTAAAGACCAAGAGACAAGGGGAACAAGTTTTGCAGATGCACCCGATTTGACCGGTAGACAAAGGCGGGTGCCGCGCTGTGTCTAATGTACACACCAGCTCGGAGTCCGAACAGCCAAGGGGAGCTCAGGGCCTGTTTGCAAAGCCTTCTCGTGGTTTCTGTTTCCCTGCTGCCGGCGTCCTTTCTGAGGAACCTGGGCCTGTGCTCTGCTCCAGCTCTGTGGTTTTTTTCCAGGCCCTCCTTGCTGTCCCCAGGCACACAGGCCCTCCTGAGGACAGCGGCAGCCCAGCCGCTGGCTCAGGCCAGCCCGGCAAGGGCCTTGTCGGCGCTGGGCTTCACCCGGGAGCCCACGTCCCGCAGCACCCTCCAGCCTGCAGAGGCTTCGGGTGGGGGAGGGAGCGGGCCTGTCCTAGAGGCTGGCTCCTGGCATCTGTCTTCTGCCCACCGCCTGCAGGGAGTTGCTTGTGAGGGGAGGCAGAGGGGACGGCAAGTGAGGGCCAATCCTTGTGTTGTCCTGAAGGGCCCCACGGCCACTACTGCTGTGCCATCATGTGGGGGTAGCCCATGGCCTACACCCGTCCAGGCACTGCAGAATGTCCTTTCAAGAGCCCTGACTGGTCACTGAGCCAGGGTCCAAAGCGGGGGAGATTTGAGGAACAGGAAAGACACAAACTGAGTACACTCTGGGTAGCTGCGTCTTGGGGTTATGTGTCTTAAGGGGAGTGGAAGCTTGCCCTGTGCCCTGAGGAAGGTGGGGAGACTCTTATCATGGGGCCATGATAGAGAGGGGCCCTGAGAGTCAGGGGAGGGAGGGCTCTGAGCCTTGGCCTCACTGAGGGGATTGGGTAACAGCCGAAGACCCAGCTAAAAGGGCAGCGGGGACGCCTTGAACTCACACAGGACTACCCGGTTTCACTTTGTTGGAGCCGGGAGCTGCTTCGATCAAGCTGGGGAGGCTCTGCTAAGGGCGCACGTTAGGCACCCTGCTGCCGGCCGAAGCTGGGACCAAGAGGCCAAAAAGTCAGCAAGGGCGAGGCCGAGTTTATGTAGGCCAAGGTTGCCGAAGGTGGGGGCTCCAGCGCTGGGCTGGCCATTTCTGTGTCCAGGAACGGCCCAGGAGGCTCCCCTGCTGCGCCAAGCTCCCAGTTGAGTAGGGGCCTGCCCAGATTAGAGCAGCTAAGCCAGGAAAGATG
|
GGAGGTGGAGGCGGGAGGGGCCAAGGGCAGGGGCAGGGCTGGGCTCCGGCAGCCACTCGCTGCTTCATGGGTGCCCTGCCACCTCGGGCTAGGGCTGGGTGCTGCTGGCATAGACACCTCTCCTCGGGGGGCTGTAGAAGCTGACGGTGGCTTCGCTGCACAGAGAAAGGCCGTGCCTTGGCAGGAGCAACGGGATGTTCAAGGGGCGTTGGTCATGGAGGTCCCTGGGAATGGAGGAAGGGGGCAGGGAGCTTGGAAAGCAAGAGGGCCCTGCACTTCCAGGGTGCTCCACCCGTCTGGGCCCCTCGGCTGCTACCAGCCCCAAGTGGGGGGCCCATGACGCCATAATCCTCTGGGCCAGGGGCCCCTGGCAGTGAGTGGCACCACAGGCCCCCGCCCCCGGACTCCGTGGGCTGGGCTGGGCTGGGCGCGGTGCGGCTGGGCACACGCAGTCGGAGGCGGCGCCGGCCAGGCCGCCGGGCGCCTATGGACGCGCGGAGCCCGCTGTCTCCCCGAGCCAGTGCGTTCAGCATCGCCTCTCTGGTTGCAGCGGAGGCGGCGGAGCGCACCGCCCACCAGGGCTCAGGGTCCTCCGACCGGGTGAAGCTTCGCTGGCTGCCAGGATCCCCGGCAGGGATGCACTTCAGCACCGTCACCAGGGACATGGAAGGTGAGCCTCCAGGCCGTGTCTACACTGGCCCGCCCGCCAGACCCCCTGCCTCAGCTGCTGTGGGGCCCGGGTGCAAAGTAGGTGGAGGCAGCTCTTGGTAGCGTGGGCTCCAGGCTTCTGGCTGCGATTCTGGGGCAGAGAGGAAGAGCCGGCATCCCGCCCACAGCCTGTCCCCTCACCAGCCTGGGGGCCCAGCTTGGAGATGGGCACTCAGGTATACACAGGCCCGGAAGAGGGCGAGTGAGGCTGGGAAGGAGAGCAGAGGTGGCCGTGAGCCTGGAGAGGGGGGAGGAAAGTTAATAAGAGAGGAGAGAGCGGGAGAGTTTCACAGAAGGAGAGAAAGCCTCGAGGAAGCCGTGGAGACGAAATTGAGCAAAGGGGAGAAAACACAAAAAACCCAAAGAAGAAGGTAGGGGAGAAACAGAAGGACACGAAAAGGCAATAAAAAGCAAGAGCGAAAGAGAAGAGAGAAAACGAAGGGAAAATTTAAGACAGAAAGCGAAGTCATAAAAAAGAAAAAAAGGAAAGACTTTAGTTTTTTTTTTTTTAAAAAGAAAAACATAAAAAACAAAGGACATACAAAAATAAGAGGAAAGGCACCGACTAAAAGAAAGACAAAGAATGATTAAAAATAAAGTGAAAAGGAAGGCGAGGATGGAGGAAAAGGGGAAGAGGCGGAAAGTAAAACAGAAATAAAGAGAAACTACAGAGATAGGGGAAGAAAAAAGATGATCGGGAGGGAAAATTTAAATGAGGACGACAAAGGTAAAATAACAAATTAGGAAAAGAACGTCTGGGAGAGAGAGAGGAGAAACGCACGCGGGCGGGCGGCAGAGCGAGGGCCGGCCGACGGGCCCGGCGCACCGGTGAGCCGGTCCGGGCGGTCGGGGGGCCCCGGGCCGAGCGAGCCGCGGCGGGCGGGCTGGGGGCCGGGGAGGGGGAAGGGGCGGGGGAGGGGCGAGGGCCGGGGGAGGGATCTAGTCCATTGTCTCCGCGCGGGGGTGGGGGGGCCCCGGGCGGGGCGGGGCGGGGCGCCTCCTCGGGGCCGGCCTGCGGTGTGGGGCTGCACGGCCCGGGGCGCACGCAGCGCGGCGCCCGCCACTCGGCCCGCGGCGCGGGGCAGCGCTCAGCTTGGTGGCGGGGGCGGCGGCGGCGGCCCGCGGGTCATGATCTCCGCCGTGTCCAGCCCGTGGCTCACGCAGCTCTCGCATTTCTGCGACGTTGCAGCCTTCACGGCCAGCAGCCTGAGCAGCCTGGGGGCCGCGGGGGGCTTCCCGGGCGCCGCGTCGCCCGGCGCCGACCCGTACGGCCCGCGCGAGCCCCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCGCCGCCCCCGGCGCCCCGGGCCCGCCGCCGCCGCCGCCGCACGCCTACCCGTTTGCGCCGGCCGCCGGGGCCGCCACCAGCGCCGCCGCCGAGCCCGAGGGCCCCGGGGCCAGCTGCGCGGCCGCAGCCAAGGCGCCGGTGAAGAAGAACGCGAAGGTGGCCGGTGTGAGCGTGCAGCTAGAGATGAAGGCGCTGTGGGACGAGTTCAACCAGCTGGGCACCGAGATGATCGTCACCAAGGCCGGCAGGTCAGGGCGCCCCTCCCCACGCCGCGACCCTCCCCACGTGCTGCCGCCAGGGCTGCGGGCCTCCGCCTGATCCGCGCGAGCGGGGCCGAAAGCCGGGTCGGGGGCGCGGCCTGGCCACCTGCGGGCCCCTCTGGGCCCCGCTGCCTCCTTCGCTGTTCGCCGTCCCGGCTCCGGCGACAGCCGCCCGGCGCTCCCCTCCTAACACCTATCCTCCGCCGGGGCGGGAGGAGACGGCGCGGGCCGCACGGGAACGGCGAGGAGCCCCGCGGGACTCGCCCGCCCGCCCCGCAGCCCCAGGACGCCGCGCGGCCCAGAAACCGGCCCGGCTTGGGGCGCACCCGGCTGGGGGCAGGCAGCGGCGTCCAGGGGGCCTCACCGCCCGGCCGACTCCTAGTAAATCCCACCTCAAGAAAACTCTGGTTCAGTTCTGGAGTTCAGTCTATGCGGGCAAGATAAAGAGCGGCAGCCGGGCAACTCTCTGGACACTTTCAGGAGAGGATTACCCTTAAAAACAGCGTGCACTGTTGCGTGGAAGTTGCTACCCAGTTTCCTTCAACCTAGATCCCTATAGTTGTGGGGCCTGGCTCTGTATCCAGCGGCCCGTCACCTCCCAACCGGCCTGTATTTGTTTTAAAGACCAAGAGACAAGGGGAACAAGTTTTGCAGATGCACCCGATTTGACCGGTAGACAAAGGCGGGTGCCGCGCTGTGTCTAATGTACACACCAGCTCGGAGTCCGAACAGCCAAGGGGAGCTCAGGGCCTGTTTGCAAAGCCTTCTCGTGGTTTCTGTTTCCCTGCTGCCGGCGTCCTTTCTGAGGAACCTGGGCCTGTGCTCTGCTCCAGCTCTGTGGTTTTTTTCCAGGCCCTCCTTGCTGTCCCCAGGCACACAGGCCCTCCTGAGGACAGCGGCAGCCCAGCCGCTGGCTCAGGCCAGCCCGGCAAGGGCCTTGTCGGCGCTGGGCTTCACCCGGGAGCCCACGTCCCGCAGCACCCTCCAGCCTGCAGAGGCTTCGGGTGGGGGAGGGAGCGGGCCTGTCCTAGAGGCTGGCTCCTGGCATCTGTCTTCTGCCCACCGCCTGCAGGGAGTTGCTTGTGAGGGGAGGCAGAGGGGACGGCAAGTGAGGGCCAATCCTTGTGTTGTCCTGAAGGGCCCCACGGCCACTACTGCTGTGCCATCATGTGGGGGTAGCCCATGGCCTACACCCGTCCAGGCACTGCAGAATGTCCTTTCAAGAGCCCTGACTGGTCACTGAGCCAGGGTCCAAAGCGGGGGAGATTTGAGGAACAGGAAAGACACAAACTGAGTACACTCTGGGTAGCTGCGTCTTGGGGTTATGTGTCTTAAGGGGAGTGGAAGCTTGCCCTGTGCCCTGAGGAAGGTGGGGAGACTCTTATCATGGGGCCATGATAGAGAGGGGCCCTGAGAGTCAGGGGAGGGAGGGCTCTGAGCCTTGGCCTCACTGAGGGGATTGGGTAACAGCCGAAGACCCAGCTAAAAGGGCAGCGGGGACGCCTTGAACTCACACAGGACTACCCGGTTTCACTTTGTTGGAGCCGGGAGCTGCTTCGATCAAGCTGGGGAGGCTCTGCTAAGGGCGCACGTTAGGCACCCTGCTGCCGGCCGAAGCTGGGACCAAGAGGCCAAAAAGTCAGCAAGGGCGAGGCCGAGTTTATGTAGGCCAAGGTTGCCGAAGGTGGGGGCTCCAGCGCTGGGCTGGCCATTTCTGTGTCCAGGAACGGCCCAGGAGGCTCCCCTGCTGCGCCAAGCTCCCAGTTGAGTAGGGGCCTGCCCAGATTAGAGCAGCTAAGCCAGGAAAG
|
benign
| 322,188 |
Does the variant on chromosome 22 at location 19766504 affecting gene TBX1 (T-box transcription factor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
AGGAGGCCCTTTAGAGTCCCTGCGAGGCTAGAGGCTGAGGCGGAGCTTGGGCAGTGCTGGTGTGCCGATGAGGAGAGCGGCCTCTGGTCAGGGGTCGCACAGCCTAGTGGGCCTGGGCCCTGGGAGAGGGGTCGCCCTCCTTCTCTCACCCCACTCCTGATTTTATGCAGGAAGCTTTTTTAATGGAAAAGATGGGGCCCTGCAAGGGGGCTGGAGAAAGAGGCTTTATGGAGTCCAGGCCAGTGAGGTCGCTGGGCAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTGACCTCTCCAGCGGCAACTGTCACTTCGTCCTGAAAGTTTGTTTTCCGAACCATTCCGGAAACTCCCCATCAGGGGCCTGATCTGAGGTTTACCCAGATTACTAGGGAACCCGCTCTGTTCCCCACCCCCCACCCCACTGCACGTGGGGGGTGGTGACCACATTCCTGTCCCAGCGAGGAGCACAGGGCCTCCATCCCCACCCACCTGGGGGACACCAGAGAGGGGTTCCCTAGTGAGAGAGGAGGTTCCTCAGACCCCCGCCCCCCTGCAGGAGGGAGCACCAGCTCCGTAGAGGAGGGGCAGACGTGGACTGGTTCTTGTCAGGGCAGCAGAAAGGCCCTTGGTGCGCTTCTCCTAACACTCCCCTATCCTCCGCCGAGGTCGGGTGGCCCAGGCTGCAGGGCTCCAGCGGCTTGCTCACACCCACCTCCCTGCAGATCACGCAGCTCAAGATTGCCAGCAATCCCTTCGCGAAAGGCTTCCGGGACTGTGACCCTGAGGACTGGTGAGTGTCCTCCCCCGAGAGAGTGAGCGCCGGGCGCCTGGCGCAGGCGCCGCCCTGATCCGCCTCCCGCCCGCAGGCCCCGGAACCACCGGCCCGGCGCACTGCCGCTCATGAGCGCCTTCGCGCGCTCGCGGAACCCCGTGGCTTCCCCGACGCAGCCCAGCGGCACGGAGAAAGGTAGGGCCGGGGTCGTGGGATCCGGGTTCCGGCCCTGTGCGCGCTCTACCCCGGGCCGGCGGCCTCGCCCGACCTCGCCTGCGCCCCCGGGGCGCTCCAGGCTTTCGCGCCGGTTGCACAACGGCCGCGGCGGCGGGCAAGCGCGCACTCGCCCGCCCGGCCCGACGGCTGCGCCCCGCCCGCCGCCGCCGCCGCCCGCAGAGGGGCGCGGGCCCCGGGGAGGGCTCGGGGCGCCGGCGACTTGGGGTCTCGGGCACGCTGGCACCGACTGGTCGGGGAACACCGAGGGCGGCCAAGAGCCTTCTCTCCGCCAGGGCCTCGCATGGGGCGTCGGAGCTCCTCGGCGGCCCCGGCCGGCCGCGCTCACTCCTCGGCCCTCTCCGCAGACGCGGCTGAGGCCCGGCGAGAATTCCAGCGCGACGCGGGCGGGCCAGCAGTGCTCGGGGACCCGGCGCATCCTCCGCAGCTGCTGGCCCGGGTGCTAAGCCCCTCGCTGCCCGGGGCCGGCGGCGCCGGCGGCTTAGTCCCGCTGCCCGGCGCGCCCGGAGGCCGGCCCAGTCCCCCGAACCCCGAGCTGCGCCTGGAGGCGCCCGGCGCATCGGAGCCGCTGCACCACCACCCCTACAAATATCCGGCCGCCGCCTACGACCACTATCTCGGGGCCAAGAGCCGGCCGGCGCCCTACCCGCTGCCCGGCCTGCGTGGCCACGGCTACCACCCGCACGCGCATCCGCACCACCACCACCACCCCGTGAGTCCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCCGCGGCCGCCAACATGTACTCGTCGGCCGGAGCCGCGCCGCCCGGCTCCTACGACTATTGCCCCAGATAACACGGGCCCTGTCGCGCTCCCGCCCCGGTCCTGCACAGCCCCGAAGTTCGCCGGGCCCGGCCACCCTGCCCCAAGGGCAAGCAAGGAATACGTTCCCCCAGCCCCAGGGGCCACCGCGGCTCTCCCCTTCCCCAGCCTCGAAGCCATGGGGGCCCCCTCGCCACCCCCAGCCCCTTGGGCTATCGAAGTATCCGGTTCCCCAGTCCCTGGAGCCACCGCGGGTCCTTCCCCGGCCCCGAGGGCCAAGGGGGTCCCCGCCCGCCAGTGCCAAAGCGCCCGGTCGGAGGCGGAAGGAAGTGATATTTATTGTTCTCCCCGAGACCGCGTCGCCCGCGGCCCGGCCGGCAGTTGCAGTGTAGACAGCCCGAGAGCCCCGCCTGCAGGCGGTGTAGATACATGTAGATACTGTAGATACTGTAGATACCGCCCCGGCGCCGACTTGATAAACGGTTTCGCCTCTTTTGGAAGCCGCCTGCGTGTCCATTTATTTGTGCCCAGTTAGATCGCGTTGGGAATCTTCGGGACAGCGAGCCCGGGGTAGCTCAGGGCCCTCAGGGCCTCCCCAGCCCCAATCCCTGCCGACTGTAGGTCGGTCCCGGTCCCACAGCGCCCTGTCCGCCACGCCTCCTGCCCTCTGCCCGCCCCATAGGGGCTCCCACTGCCCCTCCCCTCTCCGAGGCCCCTCCTGCCAGGCCTGTGCACTCCCCCCACCTTCCCACCGTCCCGTCTCATCCCAACCTCCCCAGGGCTGGTGGTACCGCCCAGGTGTGCATCCTGCCTTTTTACTTAAATTCCTCCCACCTGCAGTTGTCCCTATTCTGGGACTTGGGCCTGCGCCCTGGCCTGTTTTCGGGACAGATGCTTGTGCTTTTCCATGGAAGCTGGGAAGAAGGGTCATGACAGACACTGCCGGTCGGTGCTGGGAGGGGGAGAAGCCCCTGACCGGGATGGGGTCATGGAAAGACAAAAACAGGCAGCACTGTTCTGCTAGCATTTCCCCTGCCGGCCTAGCCCAGGCCCGCATGTTCCCTCCTTAGTGACTTTATTTGCTGTGAGTGTCCCTACGGAGTGACCTGGCCAGGGGGCACAATGACAGTAGCCATGAGTCATCTTGAGACCTGTGTATGAAGCATTTTTCCCAGGCCAGGTGGCTAAGGGACCTCTCCCCGTTAACTCAACACCAGGGATGGGGCGAGAGGAACTCTTTGATCCCTCCCTTCCTGAGCGCAAGCAGGAAGGGCTGACAGCCGGTCAGCGCCAAGGCTGCTGACTTGGACACAAGATGAACGGGAAGTGCACGTGGCCGAGGCTCTGTCCCCCACCTCCCGTGCCTGTCCCAGTGTGTTTGTGGCAACTGCTGCCTTCTAGGCCACTCGGCTCATCACCCCACGTGGTAGCGGCAGCCTGAGTGCCACCTCTCCGAGGGCACAGCCAGGAGTTTCCAGATGTCCACCCTCGCGGACCTGTTTTTCGTATACATGTTTGCTCTGGCGGCGTGAAGTGAGTGGGGTCTTAGTAATTGAATGGCAGGAACCATTCCCAGAGGCCAGTCTAGGGTGGGAGGGGGTCTCCAGGGGCCATCCAAAGCCTCAAAGGGCATCTAGCACCAGAGAGTGAGGACCTCTGCAGCATCTGCCCAGGCTCCGTGAGCACGGCTTTGGAGATGCATTTGGGGGGACGGCTG
|
AGGAGGCCCTTTAGAGTCCCTGCGAGGCTAGAGGCTGAGGCGGAGCTTGGGCAGTGCTGGTGTGCCGATGAGGAGAGCGGCCTCTGGTCAGGGGTCGCACAGCCTAGTGGGCCTGGGCCCTGGGAGAGGGGTCGCCCTCCTTCTCTCACCCCACTCCTGATTTTATGCAGGAAGCTTTTTTAATGGAAAAGATGGGGCCCTGCAAGGGGGCTGGAGAAAGAGGCTTTATGGAGTCCAGGCCAGTGAGGTCGCTGGGCAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTGACCTCTCCAGCGGCAACTGTCACTTCGTCCTGAAAGTTTGTTTTCCGAACCATTCCGGAAACTCCCCATCAGGGGCCTGATCTGAGGTTTACCCAGATTACTAGGGAACCCGCTCTGTTCCCCACCCCCCACCCCACTGCACGTGGGGGGTGGTGACCACATTCCTGTCCCAGCGAGGAGCACAGGGCCTCCATCCCCACCCACCTGGGGGACACCAGAGAGGGGTTCCCTAGTGAGAGAGGAGGTTCCTCAGACCCCCGCCCCCCTGCAGGAGGGAGCACCAGCTCCGTAGAGGAGGGGCAGACGTGGACTGGTTCTTGTCAGGGCAGCAGAAAGGCCCTTGGTGCGCTTCTCCTAACACTCCCCTATCCTCCGCCGAGGTCGGGTGGCCCAGGCTGCAGGGCTCCAGCGGCTTGCTCACACCCACCTCCCTGCAGATCACGCAGCTCAAGATTGCCAGCAATCCCTTCGCGAAAGGCTTCCGGGACTGTGACCCTGAGGACTGGTGAGTGTCCTCCCCCGAGAGAGTGAGCGCCGGGCGCCTGGCGCAGGCGCCGCCCTGATCCGCCTCCCGCCCGCAGGCCCCGGAACCACCGGCCCGGCGCACTGCCGCTCATGAGCGCCTTCGCGCGCTCGCGGAACCCCGTGGCTTCCCCGACGCAGCCCAGCGGCACGGAGAAAGGTAGGGCCGGGGTCGTGGGATCCGGGTTCCGGCCCTGTGCGCGCTCTACCCCGGGCCGGCGGCCTCGCCCGACCTCGCCTGCGCCCCCGGGGCGCTCCAGGCTTTCGCGCCGGTTGCACAACGGCCGCGGCGGCGGGCAAGCGCGCACTCGCCCGCCCGGCCCGACGGCTGCGCCCCGCCCGCCGCCGCCGCCGCCCGCAGAGGGGCGCGGGCCCCGGGGAGGGCTCGGGGCGCCGGCGACTTGGGGTCTCGGGCACGCTGGCACCGACTGGTCGGGGAACACCGAGGGCGGCCAAGAGCCTTCTCTCCGCCAGGGCCTCGCATGGGGCGTCGGAGCTCCTCGGCGGCCCCGGCCGGCCGCGCTCACTCCTCGGCCCTCTCCGCAGACGCGGCTGAGGCCCGGCGAGAATTCCAGCGCGACGCGGGCGGGCCAGCAGTGCTCGGGGACCCGGCGCATCCTCCGCAGCTGCTGGCCCGGGTGCTAAGCCCCTCGCTGCCCGGGGCCGGCGGCGCCGGCGGCGCCGGCGGCTTAGTCCCGCTGCCCGGCGCGCCCGGAGGCCGGCCCAGTCCCCCGAACCCCGAGCTGCGCCTGGAGGCGCCCGGCGCATCGGAGCCGCTGCACCACCACCCCTACAAATATCCGGCCGCCGCCTACGACCACTATCTCGGGGCCAAGAGCCGGCCGGCGCCCTACCCGCTGCCCGGCCTGCGTGGCCACGGCTACCACCCGCACGCGCATCCGCACCACCACCACCACCCCGTGAGTCCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCCGCGGCCGCCAACATGTACTCGTCGGCCGGAGCCGCGCCGCCCGGCTCCTACGACTATTGCCCCAGATAACACGGGCCCTGTCGCGCTCCCGCCCCGGTCCTGCACAGCCCCGAAGTTCGCCGGGCCCGGCCACCCTGCCCCAAGGGCAAGCAAGGAATACGTTCCCCCAGCCCCAGGGGCCACCGCGGCTCTCCCCTTCCCCAGCCTCGAAGCCATGGGGGCCCCCTCGCCACCCCCAGCCCCTTGGGCTATCGAAGTATCCGGTTCCCCAGTCCCTGGAGCCACCGCGGGTCCTTCCCCGGCCCCGAGGGCCAAGGGGGTCCCCGCCCGCCAGTGCCAAAGCGCCCGGTCGGAGGCGGAAGGAAGTGATATTTATTGTTCTCCCCGAGACCGCGTCGCCCGCGGCCCGGCCGGCAGTTGCAGTGTAGACAGCCCGAGAGCCCCGCCTGCAGGCGGTGTAGATACATGTAGATACTGTAGATACTGTAGATACCGCCCCGGCGCCGACTTGATAAACGGTTTCGCCTCTTTTGGAAGCCGCCTGCGTGTCCATTTATTTGTGCCCAGTTAGATCGCGTTGGGAATCTTCGGGACAGCGAGCCCGGGGTAGCTCAGGGCCCTCAGGGCCTCCCCAGCCCCAATCCCTGCCGACTGTAGGTCGGTCCCGGTCCCACAGCGCCCTGTCCGCCACGCCTCCTGCCCTCTGCCCGCCCCATAGGGGCTCCCACTGCCCCTCCCCTCTCCGAGGCCCCTCCTGCCAGGCCTGTGCACTCCCCCCACCTTCCCACCGTCCCGTCTCATCCCAACCTCCCCAGGGCTGGTGGTACCGCCCAGGTGTGCATCCTGCCTTTTTACTTAAATTCCTCCCACCTGCAGTTGTCCCTATTCTGGGACTTGGGCCTGCGCCCTGGCCTGTTTTCGGGACAGATGCTTGTGCTTTTCCATGGAAGCTGGGAAGAAGGGTCATGACAGACACTGCCGGTCGGTGCTGGGAGGGGGAGAAGCCCCTGACCGGGATGGGGTCATGGAAAGACAAAAACAGGCAGCACTGTTCTGCTAGCATTTCCCCTGCCGGCCTAGCCCAGGCCCGCATGTTCCCTCCTTAGTGACTTTATTTGCTGTGAGTGTCCCTACGGAGTGACCTGGCCAGGGGGCACAATGACAGTAGCCATGAGTCATCTTGAGACCTGTGTATGAAGCATTTTTCCCAGGCCAGGTGGCTAAGGGACCTCTCCCCGTTAACTCAACACCAGGGATGGGGCGAGAGGAACTCTTTGATCCCTCCCTTCCTGAGCGCAAGCAGGAAGGGCTGACAGCCGGTCAGCGCCAAGGCTGCTGACTTGGACACAAGATGAACGGGAAGTGCACGTGGCCGAGGCTCTGTCCCCCACCTCCCGTGCCTGTCCCAGTGTGTTTGTGGCAACTGCTGCCTTCTAGGCCACTCGGCTCATCACCCCACGTGGTAGCGGCAGCCTGAGTGCCACCTCTCCGAGGGCACAGCCAGGAGTTTCCAGATGTCCACCCTCGCGGACCTGTTTTTCGTATACATGTTTGCTCTGGCGGCGTGAAGTGAGTGGGGTCTTAGTAATTGAATGGCAGGAACCATTCCCAGAGGCCAGTCTAGGGTGGGAGGGGGTCTCCAGGGGCCATCCAAAGCCTCAAAGGGCATCTAGCACCAGAGAGTGAGGACCTCTGCAGCATCTGCCCAGGCTCCGTGAGCACGGCTTTGGAGATGCATTTGGGG
|
benign
| 322,260 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 19766760, gene TBX1 (T-box transcription factor 1). What disease(s) is it linked to if pathogenic?
|
benign
|
CAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTGACCTCTCCAGCGGCAACTGTCACTTCGTCCTGAAAGTTTGTTTTCCGAACCATTCCGGAAACTCCCCATCAGGGGCCTGATCTGAGGTTTACCCAGATTACTAGGGAACCCGCTCTGTTCCCCACCCCCCACCCCACTGCACGTGGGGGGTGGTGACCACATTCCTGTCCCAGCGAGGAGCACAGGGCCTCCATCCCCACCCACCTGGGGGACACCAGAGAGGGGTTCCCTAGTGAGAGAGGAGGTTCCTCAGACCCCCGCCCCCCTGCAGGAGGGAGCACCAGCTCCGTAGAGGAGGGGCAGACGTGGACTGGTTCTTGTCAGGGCAGCAGAAAGGCCCTTGGTGCGCTTCTCCTAACACTCCCCTATCCTCCGCCGAGGTCGGGTGGCCCAGGCTGCAGGGCTCCAGCGGCTTGCTCACACCCACCTCCCTGCAGATCACGCAGCTCAAGATTGCCAGCAATCCCTTCGCGAAAGGCTTCCGGGACTGTGACCCTGAGGACTGGTGAGTGTCCTCCCCCGAGAGAGTGAGCGCCGGGCGCCTGGCGCAGGCGCCGCCCTGATCCGCCTCCCGCCCGCAGGCCCCGGAACCACCGGCCCGGCGCACTGCCGCTCATGAGCGCCTTCGCGCGCTCGCGGAACCCCGTGGCTTCCCCGACGCAGCCCAGCGGCACGGAGAAAGGTAGGGCCGGGGTCGTGGGATCCGGGTTCCGGCCCTGTGCGCGCTCTACCCCGGGCCGGCGGCCTCGCCCGACCTCGCCTGCGCCCCCGGGGCGCTCCAGGCTTTCGCGCCGGTTGCACAACGGCCGCGGCGGCGGGCAAGCGCGCACTCGCCCGCCCGGCCCGACGGCTGCGCCCCGCCCGCCGCCGCCGCCGCCCGCAGAGGGGCGCGGGCCCCGGGGAGGGCTCGGGGCGCCGGCGACTTGGGGTCTCGGGCACGCTGGCACCGACTGGTCGGGGAACACCGAGGGCGGCCAAGAGCCTTCTCTCCGCCAGGGCCTCGCATGGGGCGTCGGAGCTCCTCGGCGGCCCCGGCCGGCCGCGCTCACTCCTCGGCCCTCTCCGCAGACGCGGCTGAGGCCCGGCGAGAATTCCAGCGCGACGCGGGCGGGCCAGCAGTGCTCGGGGACCCGGCGCATCCTCCGCAGCTGCTGGCCCGGGTGCTAAGCCCCTCGCTGCCCGGGGCCGGCGGCGCCGGCGGCTTAGTCCCGCTGCCCGGCGCGCCCGGAGGCCGGCCCAGTCCCCCGAACCCCGAGCTGCGCCTGGAGGCGCCCGGCGCATCGGAGCCGCTGCACCACCACCCCTACAAATATCCGGCCGCCGCCTACGACCACTATCTCGGGGCCAAGAGCCGGCCGGCGCCCTACCCGCTGCCCGGCCTGCGTGGCCACGGCTACCACCCGCACGCGCATCCGCACCACCACCACCACCCCGTGAGTCCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCCGCGGCCGCCAACATGTACTCGTCGGCCGGAGCCGCGCCGCCCGGCTCCTACGACTATTGCCCCAGATAACACGGGCCCTGTCGCGCTCCCGCCCCGGTCCTGCACAGCCCCGAAGTTCGCCGGGCCCGGCCACCCTGCCCCAAGGGCAAGCAAGGAATACGTTCCCCCAGCCCCAGGGGCCACCGCGGCTCTCCCCTTCCCCAGCCTCGAAGCCATGGGGGCCCCCTCGCCACCCCCAGCCCCTTGGGCTATCGAAGTATCCGGTTCCCCAGTCCCTGGAGCCACCGCGGGTCCTTCCCCGGCCCCGAGGGCCAAGGGGGTCCCCGCCCGCCAGTGCCAAAGCGCCCGGTCGGAGGCGGAAGGAAGTGATATTTATTGTTCTCCCCGAGACCGCGTCGCCCGCGGCCCGGCCGGCAGTTGCAGTGTAGACAGCCCGAGAGCCCCGCCTGCAGGCGGTGTAGATACATGTAGATACTGTAGATACTGTAGATACCGCCCCGGCGCCGACTTGATAAACGGTTTCGCCTCTTTTGGAAGCCGCCTGCGTGTCCATTTATTTGTGCCCAGTTAGATCGCGTTGGGAATCTTCGGGACAGCGAGCCCGGGGTAGCTCAGGGCCCTCAGGGCCTCCCCAGCCCCAATCCCTGCCGACTGTAGGTCGGTCCCGGTCCCACAGCGCCCTGTCCGCCACGCCTCCTGCCCTCTGCCCGCCCCATAGGGGCTCCCACTGCCCCTCCCCTCTCCGAGGCCCCTCCTGCCAGGCCTGTGCACTCCCCCCACCTTCCCACCGTCCCGTCTCATCCCAACCTCCCCAGGGCTGGTGGTACCGCCCAGGTGTGCATCCTGCCTTTTTACTTAAATTCCTCCCACCTGCAGTTGTCCCTATTCTGGGACTTGGGCCTGCGCCCTGGCCTGTTTTCGGGACAGATGCTTGTGCTTTTCCATGGAAGCTGGGAAGAAGGGTCATGACAGACACTGCCGGTCGGTGCTGGGAGGGGGAGAAGCCCCTGACCGGGATGGGGTCATGGAAAGACAAAAACAGGCAGCACTGTTCTGCTAGCATTTCCCCTGCCGGCCTAGCCCAGGCCCGCATGTTCCCTCCTTAGTGACTTTATTTGCTGTGAGTGTCCCTACGGAGTGACCTGGCCAGGGGGCACAATGACAGTAGCCATGAGTCATCTTGAGACCTGTGTATGAAGCATTTTTCCCAGGCCAGGTGGCTAAGGGACCTCTCCCCGTTAACTCAACACCAGGGATGGGGCGAGAGGAACTCTTTGATCCCTCCCTTCCTGAGCGCAAGCAGGAAGGGCTGACAGCCGGTCAGCGCCAAGGCTGCTGACTTGGACACAAGATGAACGGGAAGTGCACGTGGCCGAGGCTCTGTCCCCCACCTCCCGTGCCTGTCCCAGTGTGTTTGTGGCAACTGCTGCCTTCTAGGCCACTCGGCTCATCACCCCACGTGGTAGCGGCAGCCTGAGTGCCACCTCTCCGAGGGCACAGCCAGGAGTTTCCAGATGTCCACCCTCGCGGACCTGTTTTTCGTATACATGTTTGCTCTGGCGGCGTGAAGTGAGTGGGGTCTTAGTAATTGAATGGCAGGAACCATTCCCAGAGGCCAGTCTAGGGTGGGAGGGGGTCTCCAGGGGCCATCCAAAGCCTCAAAGGGCATCTAGCACCAGAGAGTGAGGACCTCTGCAGCATCTGCCCAGGCTCCGTGAGCACGGCTTTGGAGATGCATTTGGGGGGACGGCTGTGGATGCCCATTCCCAAGTCCTGATCCCCACCTGCGTGAACTTGGGGCAGCCATTACCCATGTGCCCCACGGTGGGTGGGGCTTTGCACTGCAGAGGGCCTCCCTCTCTTGCTGTCAGAAGGCAGCCATTCCGTACTCCACATCCAGGATGTGCGGAGGGGCTGCCATTCGAGACCTCCGCCTTGGTTTTGTTCAGAGCTAAAGGGAGGAAAAGCCCTCCCCTGAACAAAGAGCAAACACAGTGTTTGTAAATGAG
|
CAGGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTGACCTCTCCAGCGGCAACTGTCACTTCGTCCTGAAAGTTTGTTTTCCGAACCATTCCGGAAACTCCCCATCAGGGGCCTGATCTGAGGTTTACCCAGATTACTAGGGAACCCGCTCTGTTCCCCACCCCCCACCCCACTGCACGTGGGGGGTGGTGACCACATTCCTGTCCCAGCGAGGAGCACAGGGCCTCCATCCCCACCCACCTGGGGGACACCAGAGAGGGGTTCCCTAGTGAGAGAGGAGGTTCCTCAGACCCCCGCCCCCCTGCAGGAGGGAGCACCAGCTCCGTAGAGGAGGGGCAGACGTGGACTGGTTCTTGTCAGGGCAGCAGAAAGGCCCTTGGTGCGCTTCTCCTAACACTCCCCTATCCTCCGCCGAGGTCGGGTGGCCCAGGCTGCAGGGCTCCAGCGGCTTGCTCACACCCACCTCCCTGCAGATCACGCAGCTCAAGATTGCCAGCAATCCCTTCGCGAAAGGCTTCCGGGACTGTGACCCTGAGGACTGGTGAGTGTCCTCCCCCGAGAGAGTGAGCGCCGGGCGCCTGGCGCAGGCGCCGCCCTGATCCGCCTCCCGCCCGCAGGCCCCGGAACCACCGGCCCGGCGCACTGCCGCTCATGAGCGCCTTCGCGCGCTCGCGGAACCCCGTGGCTTCCCCGACGCAGCCCAGCGGCACGGAGAAAGGTAGGGCCGGGGTCGTGGGATCCGGGTTCCGGCCCTGTGCGCGCTCTACCCCGGGCCGGCGGCCTCGCCCGACCTCGCCTGCGCCCCCGGGGCGCTCCAGGCTTTCGCGCCGGTTGCACAACGGCCGCGGCGGCGGGCAAGCGCGCACTCGCCCGCCCGGCCCGACGGCTGCGCCCCGCCCGCCGCCGCCGCCGCCCGCAGAGGGGCGCGGGCCCCGGGGAGGGCTCGGGGCGCCGGCGACTTGGGGTCTCGGGCACGCTGGCACCGACTGGTCGGGGAACACCGAGGGCGGCCAAGAGCCTTCTCTCCGCCAGGGCCTCGCATGGGGCGTCGGAGCTCCTCGGCGGCCCCGGCCGGCCGCGCTCACTCCTCGGCCCTCTCCGCAGACGCGGCTGAGGCCCGGCGAGAATTCCAGCGCGACGCGGGCGGGCCAGCAGTGCTCGGGGACCCGGCGCATCCTCCGCAGCTGCTGGCCCGGGTGCTAAGCCCCTCGCTGCCCGGGGCCGGCGGCGCCGGCGGCTTAGTCCCGCTGCCCGGCGCGCCCGGAGGCCGGCCCAGTCCCCCGAACCCCGAGCTGCGCCTGGAGGCGCCCGGCGCATCGGAGCCGCTGCACCACCACCCCTACAAATATCCGGCCGCCGCCTACGACCACTATCTCGGGGCCAAGAGCCGGCCGGCGCCCTACCCGCTGCCCGGCCTGCGTGGCCACGGCTACCACCCGCACGCGCATCCGCACCACCACCACCACCCCGTGAGTCCAGCTGCCGCGGCCGCCAACATGTACTCGTCGGCCGGAGCCGCGCCGCCCGGCTCCTACGACTATTGCCCCAGATAACACGGGCCCTGTCGCGCTCCCGCCCCGGTCCTGCACAGCCCCGAAGTTCGCCGGGCCCGGCCACCCTGCCCCAAGGGCAAGCAAGGAATACGTTCCCCCAGCCCCAGGGGCCACCGCGGCTCTCCCCTTCCCCAGCCTCGAAGCCATGGGGGCCCCCTCGCCACCCCCAGCCCCTTGGGCTATCGAAGTATCCGGTTCCCCAGTCCCTGGAGCCACCGCGGGTCCTTCCCCGGCCCCGAGGGCCAAGGGGGTCCCCGCCCGCCAGTGCCAAAGCGCCCGGTCGGAGGCGGAAGGAAGTGATATTTATTGTTCTCCCCGAGACCGCGTCGCCCGCGGCCCGGCCGGCAGTTGCAGTGTAGACAGCCCGAGAGCCCCGCCTGCAGGCGGTGTAGATACATGTAGATACTGTAGATACTGTAGATACCGCCCCGGCGCCGACTTGATAAACGGTTTCGCCTCTTTTGGAAGCCGCCTGCGTGTCCATTTATTTGTGCCCAGTTAGATCGCGTTGGGAATCTTCGGGACAGCGAGCCCGGGGTAGCTCAGGGCCCTCAGGGCCTCCCCAGCCCCAATCCCTGCCGACTGTAGGTCGGTCCCGGTCCCACAGCGCCCTGTCCGCCACGCCTCCTGCCCTCTGCCCGCCCCATAGGGGCTCCCACTGCCCCTCCCCTCTCCGAGGCCCCTCCTGCCAGGCCTGTGCACTCCCCCCACCTTCCCACCGTCCCGTCTCATCCCAACCTCCCCAGGGCTGGTGGTACCGCCCAGGTGTGCATCCTGCCTTTTTACTTAAATTCCTCCCACCTGCAGTTGTCCCTATTCTGGGACTTGGGCCTGCGCCCTGGCCTGTTTTCGGGACAGATGCTTGTGCTTTTCCATGGAAGCTGGGAAGAAGGGTCATGACAGACACTGCCGGTCGGTGCTGGGAGGGGGAGAAGCCCCTGACCGGGATGGGGTCATGGAAAGACAAAAACAGGCAGCACTGTTCTGCTAGCATTTCCCCTGCCGGCCTAGCCCAGGCCCGCATGTTCCCTCCTTAGTGACTTTATTTGCTGTGAGTGTCCCTACGGAGTGACCTGGCCAGGGGGCACAATGACAGTAGCCATGAGTCATCTTGAGACCTGTGTATGAAGCATTTTTCCCAGGCCAGGTGGCTAAGGGACCTCTCCCCGTTAACTCAACACCAGGGATGGGGCGAGAGGAACTCTTTGATCCCTCCCTTCCTGAGCGCAAGCAGGAAGGGCTGACAGCCGGTCAGCGCCAAGGCTGCTGACTTGGACACAAGATGAACGGGAAGTGCACGTGGCCGAGGCTCTGTCCCCCACCTCCCGTGCCTGTCCCAGTGTGTTTGTGGCAACTGCTGCCTTCTAGGCCACTCGGCTCATCACCCCACGTGGTAGCGGCAGCCTGAGTGCCACCTCTCCGAGGGCACAGCCAGGAGTTTCCAGATGTCCACCCTCGCGGACCTGTTTTTCGTATACATGTTTGCTCTGGCGGCGTGAAGTGAGTGGGGTCTTAGTAATTGAATGGCAGGAACCATTCCCAGAGGCCAGTCTAGGGTGGGAGGGGGTCTCCAGGGGCCATCCAAAGCCTCAAAGGGCATCTAGCACCAGAGAGTGAGGACCTCTGCAGCATCTGCCCAGGCTCCGTGAGCACGGCTTTGGAGATGCATTTGGGGGGACGGCTGTGGATGCCCATTCCCAAGTCCTGATCCCCACCTGCGTGAACTTGGGGCAGCCATTACCCATGTGCCCCACGGTGGGTGGGGCTTTGCACTGCAGAGGGCCTCCCTCTCTTGCTGTCAGAAGGCAGCCATTCCGTACTCCACATCCAGGATGTGCGGAGGGGCTGCCATTCGAGACCTCCGCCTTGGTTTTGTTCAGAGCTAAAGGGAGGAAAAGCCCTCCCCTGAACAAAGAGCAAACACAGTGTTTGTAAATGAGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 322,286 |
The chromosome 22, position 19766762 genetic variant in gene TBX1 (T-box transcription factor 1): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
GGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTGACCTCTCCAGCGGCAACTGTCACTTCGTCCTGAAAGTTTGTTTTCCGAACCATTCCGGAAACTCCCCATCAGGGGCCTGATCTGAGGTTTACCCAGATTACTAGGGAACCCGCTCTGTTCCCCACCCCCCACCCCACTGCACGTGGGGGGTGGTGACCACATTCCTGTCCCAGCGAGGAGCACAGGGCCTCCATCCCCACCCACCTGGGGGACACCAGAGAGGGGTTCCCTAGTGAGAGAGGAGGTTCCTCAGACCCCCGCCCCCCTGCAGGAGGGAGCACCAGCTCCGTAGAGGAGGGGCAGACGTGGACTGGTTCTTGTCAGGGCAGCAGAAAGGCCCTTGGTGCGCTTCTCCTAACACTCCCCTATCCTCCGCCGAGGTCGGGTGGCCCAGGCTGCAGGGCTCCAGCGGCTTGCTCACACCCACCTCCCTGCAGATCACGCAGCTCAAGATTGCCAGCAATCCCTTCGCGAAAGGCTTCCGGGACTGTGACCCTGAGGACTGGTGAGTGTCCTCCCCCGAGAGAGTGAGCGCCGGGCGCCTGGCGCAGGCGCCGCCCTGATCCGCCTCCCGCCCGCAGGCCCCGGAACCACCGGCCCGGCGCACTGCCGCTCATGAGCGCCTTCGCGCGCTCGCGGAACCCCGTGGCTTCCCCGACGCAGCCCAGCGGCACGGAGAAAGGTAGGGCCGGGGTCGTGGGATCCGGGTTCCGGCCCTGTGCGCGCTCTACCCCGGGCCGGCGGCCTCGCCCGACCTCGCCTGCGCCCCCGGGGCGCTCCAGGCTTTCGCGCCGGTTGCACAACGGCCGCGGCGGCGGGCAAGCGCGCACTCGCCCGCCCGGCCCGACGGCTGCGCCCCGCCCGCCGCCGCCGCCGCCCGCAGAGGGGCGCGGGCCCCGGGGAGGGCTCGGGGCGCCGGCGACTTGGGGTCTCGGGCACGCTGGCACCGACTGGTCGGGGAACACCGAGGGCGGCCAAGAGCCTTCTCTCCGCCAGGGCCTCGCATGGGGCGTCGGAGCTCCTCGGCGGCCCCGGCCGGCCGCGCTCACTCCTCGGCCCTCTCCGCAGACGCGGCTGAGGCCCGGCGAGAATTCCAGCGCGACGCGGGCGGGCCAGCAGTGCTCGGGGACCCGGCGCATCCTCCGCAGCTGCTGGCCCGGGTGCTAAGCCCCTCGCTGCCCGGGGCCGGCGGCGCCGGCGGCTTAGTCCCGCTGCCCGGCGCGCCCGGAGGCCGGCCCAGTCCCCCGAACCCCGAGCTGCGCCTGGAGGCGCCCGGCGCATCGGAGCCGCTGCACCACCACCCCTACAAATATCCGGCCGCCGCCTACGACCACTATCTCGGGGCCAAGAGCCGGCCGGCGCCCTACCCGCTGCCCGGCCTGCGTGGCCACGGCTACCACCCGCACGCGCATCCGCACCACCACCACCACCCCGTGAGTCCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCCGCGGCCGCCAACATGTACTCGTCGGCCGGAGCCGCGCCGCCCGGCTCCTACGACTATTGCCCCAGATAACACGGGCCCTGTCGCGCTCCCGCCCCGGTCCTGCACAGCCCCGAAGTTCGCCGGGCCCGGCCACCCTGCCCCAAGGGCAAGCAAGGAATACGTTCCCCCAGCCCCAGGGGCCACCGCGGCTCTCCCCTTCCCCAGCCTCGAAGCCATGGGGGCCCCCTCGCCACCCCCAGCCCCTTGGGCTATCGAAGTATCCGGTTCCCCAGTCCCTGGAGCCACCGCGGGTCCTTCCCCGGCCCCGAGGGCCAAGGGGGTCCCCGCCCGCCAGTGCCAAAGCGCCCGGTCGGAGGCGGAAGGAAGTGATATTTATTGTTCTCCCCGAGACCGCGTCGCCCGCGGCCCGGCCGGCAGTTGCAGTGTAGACAGCCCGAGAGCCCCGCCTGCAGGCGGTGTAGATACATGTAGATACTGTAGATACTGTAGATACCGCCCCGGCGCCGACTTGATAAACGGTTTCGCCTCTTTTGGAAGCCGCCTGCGTGTCCATTTATTTGTGCCCAGTTAGATCGCGTTGGGAATCTTCGGGACAGCGAGCCCGGGGTAGCTCAGGGCCCTCAGGGCCTCCCCAGCCCCAATCCCTGCCGACTGTAGGTCGGTCCCGGTCCCACAGCGCCCTGTCCGCCACGCCTCCTGCCCTCTGCCCGCCCCATAGGGGCTCCCACTGCCCCTCCCCTCTCCGAGGCCCCTCCTGCCAGGCCTGTGCACTCCCCCCACCTTCCCACCGTCCCGTCTCATCCCAACCTCCCCAGGGCTGGTGGTACCGCCCAGGTGTGCATCCTGCCTTTTTACTTAAATTCCTCCCACCTGCAGTTGTCCCTATTCTGGGACTTGGGCCTGCGCCCTGGCCTGTTTTCGGGACAGATGCTTGTGCTTTTCCATGGAAGCTGGGAAGAAGGGTCATGACAGACACTGCCGGTCGGTGCTGGGAGGGGGAGAAGCCCCTGACCGGGATGGGGTCATGGAAAGACAAAAACAGGCAGCACTGTTCTGCTAGCATTTCCCCTGCCGGCCTAGCCCAGGCCCGCATGTTCCCTCCTTAGTGACTTTATTTGCTGTGAGTGTCCCTACGGAGTGACCTGGCCAGGGGGCACAATGACAGTAGCCATGAGTCATCTTGAGACCTGTGTATGAAGCATTTTTCCCAGGCCAGGTGGCTAAGGGACCTCTCCCCGTTAACTCAACACCAGGGATGGGGCGAGAGGAACTCTTTGATCCCTCCCTTCCTGAGCGCAAGCAGGAAGGGCTGACAGCCGGTCAGCGCCAAGGCTGCTGACTTGGACACAAGATGAACGGGAAGTGCACGTGGCCGAGGCTCTGTCCCCCACCTCCCGTGCCTGTCCCAGTGTGTTTGTGGCAACTGCTGCCTTCTAGGCCACTCGGCTCATCACCCCACGTGGTAGCGGCAGCCTGAGTGCCACCTCTCCGAGGGCACAGCCAGGAGTTTCCAGATGTCCACCCTCGCGGACCTGTTTTTCGTATACATGTTTGCTCTGGCGGCGTGAAGTGAGTGGGGTCTTAGTAATTGAATGGCAGGAACCATTCCCAGAGGCCAGTCTAGGGTGGGAGGGGGTCTCCAGGGGCCATCCAAAGCCTCAAAGGGCATCTAGCACCAGAGAGTGAGGACCTCTGCAGCATCTGCCCAGGCTCCGTGAGCACGGCTTTGGAGATGCATTTGGGGGGACGGCTGTGGATGCCCATTCCCAAGTCCTGATCCCCACCTGCGTGAACTTGGGGCAGCCATTACCCATGTGCCCCACGGTGGGTGGGGCTTTGCACTGCAGAGGGCCTCCCTCTCTTGCTGTCAGAAGGCAGCCATTCCGTACTCCACATCCAGGATGTGCGGAGGGGCTGCCATTCGAGACCTCCGCCTTGGTTTTGTTCAGAGCTAAAGGGAGGAAAAGCCCTCCCCTGAACAAAGAGCAAACACAGTGTTTGTAAATGAGGG
|
GGCACCTAAGGAAAGAGAACCTAAACCCAGATCTTTTGCCACTTGGAGCTCATTCCTGGCAGTTGCCAATGGGTCACAGCCTCCTCTTGGCCCAGTGACCCAGCCTCATCTTGGAATTAAGGGTTTTGCCCAACTCATCCAGGAAACTCATTGCCAACTCAGACCTCAGCCCATTTCCTGGCTCCCACCCCAGATCCTCAGCCCAGCCCCACCGCTGGAGCTGATTCCCCACCTTGTCTTCCAGATTATTCTGAATTCCATGCACAGATACCAGCCCCGCTTCCACGTGGTCTATGTGGACCCACGCAAAGATAGCGAGAAATATGCCGAGGAGAACTTCAAAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACTGCCTACCAGAACCATCGGGTGAGGGCCTGTGGGGAGGACCTGAGCGGATTCAACGCCTCTGGAAAAGCGGGTGTAATTTTCAGTTGCCGTTTGGGGACAGTGGGTCCGCTTAGACCTGCAGGCTGTGGTCCCAGTGGAGCCCAACCCAACTGGAGCCCCACTCCCAAGGGCCTCAGGCAGCCCCCTCCCTCTCGAGGCTGGCCGGCCCAGCCTCCTATCAGCTTGACCTCTCCAGCGGCAACTGTCACTTCGTCCTGAAAGTTTGTTTTCCGAACCATTCCGGAAACTCCCCATCAGGGGCCTGATCTGAGGTTTACCCAGATTACTAGGGAACCCGCTCTGTTCCCCACCCCCCACCCCACTGCACGTGGGGGGTGGTGACCACATTCCTGTCCCAGCGAGGAGCACAGGGCCTCCATCCCCACCCACCTGGGGGACACCAGAGAGGGGTTCCCTAGTGAGAGAGGAGGTTCCTCAGACCCCCGCCCCCCTGCAGGAGGGAGCACCAGCTCCGTAGAGGAGGGGCAGACGTGGACTGGTTCTTGTCAGGGCAGCAGAAAGGCCCTTGGTGCGCTTCTCCTAACACTCCCCTATCCTCCGCCGAGGTCGGGTGGCCCAGGCTGCAGGGCTCCAGCGGCTTGCTCACACCCACCTCCCTGCAGATCACGCAGCTCAAGATTGCCAGCAATCCCTTCGCGAAAGGCTTCCGGGACTGTGACCCTGAGGACTGGTGAGTGTCCTCCCCCGAGAGAGTGAGCGCCGGGCGCCTGGCGCAGGCGCCGCCCTGATCCGCCTCCCGCCCGCAGGCCCCGGAACCACCGGCCCGGCGCACTGCCGCTCATGAGCGCCTTCGCGCGCTCGCGGAACCCCGTGGCTTCCCCGACGCAGCCCAGCGGCACGGAGAAAGGTAGGGCCGGGGTCGTGGGATCCGGGTTCCGGCCCTGTGCGCGCTCTACCCCGGGCCGGCGGCCTCGCCCGACCTCGCCTGCGCCCCCGGGGCGCTCCAGGCTTTCGCGCCGGTTGCACAACGGCCGCGGCGGCGGGCAAGCGCGCACTCGCCCGCCCGGCCCGACGGCTGCGCCCCGCCCGCCGCCGCCGCCGCCCGCAGAGGGGCGCGGGCCCCGGGGAGGGCTCGGGGCGCCGGCGACTTGGGGTCTCGGGCACGCTGGCACCGACTGGTCGGGGAACACCGAGGGCGGCCAAGAGCCTTCTCTCCGCCAGGGCCTCGCATGGGGCGTCGGAGCTCCTCGGCGGCCCCGGCCGGCCGCGCTCACTCCTCGGCCCTCTCCGCAGACGCGGCTGAGGCCCGGCGAGAATTCCAGCGCGACGCGGGCGGGCCAGCAGTGCTCGGGGACCCGGCGCATCCTCCGCAGCTGCTGGCCCGGGTGCTAAGCCCCTCGCTGCCCGGGGCCGGCGGCGCCGGCGGCTTAGTCCCGCTGCCCGGCGCGCCCGGAGGCCGGCCCAGTCCCCCGAACCCCGAGCTGCGCCTGGAGGCGCCCGGCGCATCGGAGCCGCTGCACCACCACCCCTACAAATATCCGGCCGCCGCCTACGACCACTATCTCGGGGCCAAGAGCCGGCCGGCGCCCTACCCGCTGCCCGGCCTGCGTGGCCACGGCTACCACCCGCACGCGCATCCGCACCACCACCACCACCCCGTGAGTCCAGCCGCCGCCGCCGCTGCCGCAGCTGCCGCGGCCGCCAACATGTACTCGTCGGCCGGAGCCGCGCCGCCCGGCTCCTACGACTATTGCCCCAGATAACACGGGCCCTGTCGCGCTCCCGCCCCGGTCCTGCACAGCCCCGAAGTTCGCCGGGCCCGGCCACCCTGCCCCAAGGGCAAGCAAGGAATACGTTCCCCCAGCCCCAGGGGCCACCGCGGCTCTCCCCTTCCCCAGCCTCGAAGCCATGGGGGCCCCCTCGCCACCCCCAGCCCCTTGGGCTATCGAAGTATCCGGTTCCCCAGTCCCTGGAGCCACCGCGGGTCCTTCCCCGGCCCCGAGGGCCAAGGGGGTCCCCGCCCGCCAGTGCCAAAGCGCCCGGTCGGAGGCGGAAGGAAGTGATATTTATTGTTCTCCCCGAGACCGCGTCGCCCGCGGCCCGGCCGGCAGTTGCAGTGTAGACAGCCCGAGAGCCCCGCCTGCAGGCGGTGTAGATACATGTAGATACTGTAGATACTGTAGATACCGCCCCGGCGCCGACTTGATAAACGGTTTCGCCTCTTTTGGAAGCCGCCTGCGTGTCCATTTATTTGTGCCCAGTTAGATCGCGTTGGGAATCTTCGGGACAGCGAGCCCGGGGTAGCTCAGGGCCCTCAGGGCCTCCCCAGCCCCAATCCCTGCCGACTGTAGGTCGGTCCCGGTCCCACAGCGCCCTGTCCGCCACGCCTCCTGCCCTCTGCCCGCCCCATAGGGGCTCCCACTGCCCCTCCCCTCTCCGAGGCCCCTCCTGCCAGGCCTGTGCACTCCCCCCACCTTCCCACCGTCCCGTCTCATCCCAACCTCCCCAGGGCTGGTGGTACCGCCCAGGTGTGCATCCTGCCTTTTTACTTAAATTCCTCCCACCTGCAGTTGTCCCTATTCTGGGACTTGGGCCTGCGCCCTGGCCTGTTTTCGGGACAGATGCTTGTGCTTTTCCATGGAAGCTGGGAAGAAGGGTCATGACAGACACTGCCGGTCGGTGCTGGGAGGGGGAGAAGCCCCTGACCGGGATGGGGTCATGGAAAGACAAAAACAGGCAGCACTGTTCTGCTAGCATTTCCCCTGCCGGCCTAGCCCAGGCCCGCATGTTCCCTCCTTAGTGACTTTATTTGCTGTGAGTGTCCCTACGGAGTGACCTGGCCAGGGGGCACAATGACAGTAGCCATGAGTCATCTTGAGACCTGTGTATGAAGCATTTTTCCCAGGCCAGGTGGCTAAGGGACCTCTCCCCGTTAACTCAACACCAGGGATGGGGCGAGAGGAACTCTTTGATCCCTCCCTTCCTGAGCGCAAGCAGGAAGGGCTGACAGCCGGTCAGCGCCAAGGCTGCTGACTTGGACACAAGATGAACGGGAAGTGCACGTGGCCGAGGCTCTGTCCCCCACCTCCCGTGCCTGTCCCAGTGTGTTTGTGGCAACTGCTGCCTTCTAGGCCACTCGGCTCATCACCCCACGTGGTAGCGGCAGCCTGAGTGCCACCTCTCCGAGGGCACAGCCAGGAGTTTCCAGATGTCCACCCTCGCGGACCTGTTTTTCGTATACATGTTTGCTCTGGCGGCGTGAAGTGAGTGGGGTCTTAGTAATTGAATGGCAGGAACCATTCCCAGAGGCCAGTCTAGGGTGGGAGGGGGTCTCCAGGGGCCATCCAAAGCCTCAAAGGGCATCTAGCACCAGAGAGTGAGGACCTCTGCAGCATCTGCCCAGGCTCCGTGAGCACGGCTTTGGAGATGCATTTGGGGGGACGGCTGTGGATGCCCATTCCCAAGTCCTGATCCCCACCTGCGTGAACTTGGGGCAGCCATTACCCATGTGCCCCACGGTGGGTGGGGCTTTGCACTGCAGAGGGCCTCCCTCTCTTGCTGTCAGAAGGCAGCCATTCCGTACTCCACATCCAGGATGTGCGGAGGGGCTGCCATTCGAGACCTCCGCCTTGGTTTTGTTCAGAGCTAAAGGGAGGAAAAGCCCTCCCCTGAACAAAGAGCAAACACAGTGTTTGTAAATGAGGGNNNNNNNNN
|
benign
| 322,288 |
Variant chromosome 22, position 19880732, gene TXNRD2 (thioredoxin reductase 2): benign or pathogenic? Disease(s)?
|
benign
|
CTGGGACCCCCGTAAACCACAGCAGCAGAGCAGGCATCAGGCAATCCAAGCAGCCAGGCCAGGCACAGCAAACCTGGGTGGACGTAGCTCACCCACAACAAATGGTGGAGGCAAGAATGGGTGAGCAGGAGGCCACCTGGGCTCCCTCAGGCACCCTGGTGTTTGCTTGGCCCTCACTGGAGCAAGGCCGCTGTGGCCACACCGGAGCCGGAGCTGTTGGACAAAGGCTTTCAGCACCCCTGAAGGGCTCGACAGCGTGTCCGGGGCTGCGGCCAAGTAAAAAATGAGTGGGGCCCTCACATGTGCTGTACAGCCATTATTAATTAATGGAACTTCAGAGAATATTGTTCTAACTAAGACAGAATTGAAAAGAAAACAAACAGAGTATTTGGCCATTCAACATTGTGAAACATAAAACAACATTATAAAATGCCAGGAACATATGTCCCAGCACACTTGTGATGAATCAAACAAAAATAGCAAATAAAGTGCCTCGGGGAAGGCTGGCCTGTCAGGCCCGTCCTGTTGATGGAGAGTTCTGGGGTGCAGGGGGAAGGGGCCAGCCCTGGAGCCCAGTGTCTCATCCCCAAAGGCCGCAGGCCCCACCGCCCAGGCTGCAGGCTCCGGTTTCTCTGGGTGCCTGCAAGCTGCAGCGGCAGCAAGATGAAACCGCACCGAAGGCTTCCAGCTACCACGGCCCGGCAGGCTTCAGAGCCCCCGCATCCCTCCAGGCCACCCCGGAGCCACAGCCACCTGCCAGAGCAGACCCCCAAAGCAGGCTTGCTCGATGAAAACCCCTTTCCTCAAGGGTGAGTGCCTGAGCCTGGAAGAAGCTGGAAGAGGATGGGTATCAGGATGTGGTGGGGGGCGGGGGGCGGGGGGCTCTCGCCTGGGAGAAACCCTGGGCAGTCCAGGAAGACGAGGTGCAGGGTGGTGGGGGGGGTGGGGGTGGAAGCAGAGGTCGGAGGCCCCTGGGAGAAACTTTTCTGGGTAGAGTGAGATTCATGGCCCTGCAAGGTGGGGACAGCACAGAGGCATCTTCGGGGCCCTGGTGCTTTCAGGGACAAGCTGCTGTGTGCTGGAGTGGGGCCAGTGCTCAGCTGACCTCAGCAGGGGAGCGGGTGGCACCGTGGTGGTGACCCTGCTGGTGCTGGGCACCCCTGCAGCATGGCTGGGGTGGGGCTGGGGGCTTCTGGGCCACAGGGCTTCTCCTTGCCCTCAGAACAAGGCAGCCAAGGGCCTTCCCCTCACTGCTGTGACACATGGTGGCAGAGACCAGAGGCACCTAAGCCCAGTCACCCCAAGGCTGCCAAAGCCCAGGCACCCCCACTTCTGAGGCTGCCCCCAACGTGTCCCTTCCCGCTACACACAGCCACTGCTCAGGGCCCCTGGAAAGGAGAGACCTTGGCACCCTGCTCACAAGGCCTCCGCCCAGAGCATGGGGTGAGGTCGTGGAGTCGCCACTGTCCTCAGCTGTGCTGCTCCCAGGCCTCACCTCAACATGCTCCTGCCCGTGGCGAGCCACTGCCTCCTCCTCGGACAGCCCCACACAGCCATACTCCAGCGGGGTGAAGACGGTCGTGGGAACCTGAAAGCAGGTCTGGAGTCAGGGAGGGCCCTTGGGCCCCGAAAACCGAAGTTCCCCACTGCATGTGACACAAAGAGCAGCGATCACAGACCAGGACCAGATGCGCCCAGAGCAGGCTGCAAGCACAGTAGGCGACCCACCTGCCCACGCCTGCGCCACACTCTCAGAACTGAGCCACACACCCATGCATGCACACACACGTGTGTACAACACACCCACATAAGCGCACACACACGCATGCCCACATCTACATGCAGACACACAGCGCACAAAGGCCCCTCACCCCAGAAGAGCTAGCCTCGAACTCAGCCTGTCCTAGGCTGCACGTGGCGTCCTGCTAGAGAACTCACATTGTCGTAGTCCATCAGATCTGAGGACCCGCCGAAGAGCCGCTGCACCAGGAGCCTCCCGGCCATGATCGCTATGGGTGTCAGCTCAGGCCGCCCCTTGGGGAAGGCACAGGGGGGCCACGTCAGCACCATGTCCGGGGTTATATGCAGCCCCTATGCCATCACCCTTTGCCCTCCGAGTGGGCATCTCCCTTTAGAAAATCCCCAACACTGGCACCGAGCATGGTGACGTACAGCATTCCCCCTAGAGCTCGTCCTCCTGAGGGGCATCCCAAGGACCTAGGTAGGTTGCTCATTCTCCTGTTTGCTGCCCTCCACTCTGCCCTGGGAAAGGAGTCCGCTGCTGATGAGGCTGGCCGTGCCACCCTCACATGCTCAAGCCTTCTCTCCAAACCCCTTCTGCACATTGCTGACCTCGGAGGGCTGCCCCATGACCAAGCTCAAAAGAGCCCCTGCTACCGTTTTCATTCACTGGAATCCCCGGCTAAAAAGGGACCCCAAAGCGTTCCATGTGCTCCTGACGTGCAGCTTGATCTGCACGTCACAGTCCATAACAAATTCCAAATCAGAATGTCGCTGTGCTGGAGATCCCTCCGTCCCAGGGTGTGCCCAGCCTTGGGGGTTCCAGCACCGTCCTCTGGGATGGGCTGCCAATCACCATGGCAGCAGGAAATGCAGATGTTGTTTGGCATTCCAGAAATGCATAGAGATCCGTGGAGATAAACTCAGAGCGCAGCCTGCGCATTCCAGCAGGCCTGACTAACTACGGAAACATCCCGGCGGGCGGCGCACAGCACACAACATCTCATTAAACAATAGCCCCCGCCCCGCCCACAGGCTCTTCCCAGCCGCTCAAGGGACCACTGGTTGGGTGTTAACTCTTTGGACTATTCAGAACGACCTTTCTGACAGAGTGGATTTAATGTTTAAATAAAGAATGCCTTTGTGTGCGCCATGCATTTCTGGCAAAACGGTTTGAAATGTTCCAGTTTCCAACACAGGAGCCTGGGAGCTACACACTTGCAGAGGGAAAACTCAGATTCCCAGACAGAAGGGAGGCTTCCCGCTGTGCACAGAGATGCACATGGCACTGTCTCAGGGTGCAGCGCCCACAGGATTCAACAGACCCTGCAACCAGAGACCACTGCACCTACATGGTCCACAGGCAGAGGCTGCGCTTGCAGAAATCACTGAGCAGCTGAACCATCCAGCTAAGCAAGCTGGGGCTGCAGGGTGGCTGAGGCACATGGAGCCACATGCTCTGTCCACACAATCGGGTCGGCTAGATGGGCCCTACAGGACCCTGCAGGGTCTGCCTGGAGCCTCAGAGTGTGACCTTATTTGGAAATAAGATCTTTGCAGATACAATTAAGGTAAGGATGGAAATGAAGTCATCCTGGATTAGGGTGGACCCTAAGTCCAATTGCAGAGAAACTGTAAGAGGCAAATCAGGGCCCAGAGACACACCCAGGAGACTGTCACATGACGATGAGGCAGAGAGAGGAGTGATATAGCCACAACCCGAGGGACGCCTGGGGCATCCTACCCCAGAGGCTTCCGAGGGAGCCTGGCCCAGCTGACACTTTCTGACATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACGGTAACCTCCGCCTTCCTCCTCCCGAGTTCAAATGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAGATACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTTTAGTAGAGACGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTAATCTGCCTGCCTCGGAGTCCCAAAGTGCTGGGATTACAAGCATGAGACACTGCACCCAGCCCCAGCTGACACTTTCATTTCAGACTACTGCCCCCCAAACGTGAGATAATCCATGTCTGTTGTTCTGGGCCACCCGTGTGTGGTGATTTGGTACCACAGCCCCAGGACGCAGACACTGACAGGTCTCGCTACAAAGAAGCTCTCAGCGACCCTCCAGAGCCACTTTCAGCAGCAGGTGCTGGACACATGCAGGACAGGCCGAGCACTCCTGAGGCTGCCAGGGTGCAGTATCCCAAGACTGACCACCACAGTCCCTTACTGGGGCCATGTGTAAGGAGGGCT
|
CTGGGACCCCCGTAAACCACAGCAGCAGAGCAGGCATCAGGCAATCCAAGCAGCCAGGCCAGGCACAGCAAACCTGGGTGGACGTAGCTCACCCACAACAAATGGTGGAGGCAAGAATGGGTGAGCAGGAGGCCACCTGGGCTCCCTCAGGCACCCTGGTGTTTGCTTGGCCCTCACTGGAGCAAGGCCGCTGTGGCCACACCGGAGCCGGAGCTGTTGGACAAAGGCTTTCAGCACCCCTGAAGGGCTCGACAGCGTGTCCGGGGCTGCGGCCAAGTAAAAAATGAGTGGGGCCCTCACATGTGCTGTACAGCCATTATTAATTAATGGAACTTCAGAGAATATTGTTCTAACTAAGACAGAATTGAAAAGAAAACAAACAGAGTATTTGGCCATTCAACATTGTGAAACATAAAACAACATTATAAAATGCCAGGAACATATGTCCCAGCACACTTGTGATGAATCAAACAAAAATAGCAAATAAAGTGCCTCGGGGAAGGCTGGCCTGTCAGGCCCGTCCTGTTGATGGAGAGTTCTGGGGTGCAGGGGGAAGGGGCCAGCCCTGGAGCCCAGTGTCTCATCCCCAAAGGCCGCAGGCCCCACCGCCCAGGCTGCAGGCTCCGGTTTCTCTGGGTGCCTGCAAGCTGCAGCGGCAGCAAGATGAAACCGCACCGAAGGCTTCCAGCTACCACGGCCCGGCAGGCTTCAGAGCCCCCGCATCCCTCCAGGCCACCCCGGAGCCACAGCCACCTGCCAGAGCAGACCCCCAAAGCAGGCTTGCTCGATGAAAACCCCTTTCCTCAAGGGTGAGTGCCTGAGCCTGGAAGAAGCTGGAAGAGGATGGGTATCAGGATGTGGTGGGGGGCGGGGGGCGGGGGGCTCTCGCCTGGGAGAAACCCTGGGCAGTCCAGGAAGACGAGGTGCAGGGTGGTGGGGGGGGTGGGGGTGGAAGCAGAGGTCGGAGGCCCCTGGGAGAAACTTTTCTGGGTAGAGTGAGATTCATGGCCCTGCAAGGTGGGGACAGCACAGAGGCATCTTCGGGGCCCTGGTGCTTTCAGGGACAAGCTGCTGTGTGCTGGAGTGGGGCCAGTGCTCAGCTGACCTCAGCAGGGGAGCGGGTGGCACCGTGGTGGTGACCCTGCTGGTGCTGGGCACCCCTGCAGCATGGCTGGGGTGGGGCTGGGGGCTTCTGGGCCACAGGGCTTCTCCTTGCCCTCAGAACAAGGCAGCCAAGGGCCTTCCCCTCACTGCTGTGACACATGGTGGCAGAGACCAGAGGCACCTAAGCCCAGTCACCCCAAGGCTGCCAAAGCCCAGGCACCCCCACTTCTGAGGCTGCCCCCAACGTGTCCCTTCCCGCTACACACAGCCACTGCTCAGGGCCCCTGGAAAGGAGAGACCTTGGCACCCTGCTCACAAGGCCTCCGCCCAGAGCATGGGGTGAGGTCGTGGAGTCGCCACTGTCCTCAGCTGTGCTGCTCCCAGGCCTCACCTCAACATGCTCCTGCCCGTGGCGAGCCACTGCCTCCTCCTCGGACAGCCCCACACAGCCATACTCCAGCGGGGTGAAGACGGTCGTGGGAACCTGAAAGCAGGTCTGGAGTCAGGGAGGGCCCTTGGGCCCCGAAAACCGAAGTTCCCCACTGCATGTGACACAAAGAGCAGCGATCACAGACCAGGACCAGATGCGCCCAGAGCAGGCTGCAAGCACAGTAGGCGACCCACCTGCCCACGCCTGCGCCACACTCTCAGAACTGAGCCACACACCCATGCATGCACACACACGTGTGTACAACACACCCACATAAGCGCACACACACGCATGCCCACATCTACATGCAGACACACAGCGCACAAAGGCCCCTCACCCCAGAAGAGCTAGCCTCGAACTCAGCCTGTCCTAGGCTGCACGTGGCGTCCTGCTAGAGAACTCACATTGTCGTAGTCCATCAGATCTGAGGACCCGCCGAAGAGCCGCTGCACCAGGAGCCTCCCGGCCATGATCGCTATGGGTGTCAGCTCAGGCCGCCCCTTGGGGAAGGCACAGGGGGCCACGTCAGCACCATGTCCGGGGTTATATGCAGCCCCTATGCCATCACCCTTTGCCCTCCGAGTGGGCATCTCCCTTTAGAAAATCCCCAACACTGGCACCGAGCATGGTGACGTACAGCATTCCCCCTAGAGCTCGTCCTCCTGAGGGGCATCCCAAGGACCTAGGTAGGTTGCTCATTCTCCTGTTTGCTGCCCTCCACTCTGCCCTGGGAAAGGAGTCCGCTGCTGATGAGGCTGGCCGTGCCACCCTCACATGCTCAAGCCTTCTCTCCAAACCCCTTCTGCACATTGCTGACCTCGGAGGGCTGCCCCATGACCAAGCTCAAAAGAGCCCCTGCTACCGTTTTCATTCACTGGAATCCCCGGCTAAAAAGGGACCCCAAAGCGTTCCATGTGCTCCTGACGTGCAGCTTGATCTGCACGTCACAGTCCATAACAAATTCCAAATCAGAATGTCGCTGTGCTGGAGATCCCTCCGTCCCAGGGTGTGCCCAGCCTTGGGGGTTCCAGCACCGTCCTCTGGGATGGGCTGCCAATCACCATGGCAGCAGGAAATGCAGATGTTGTTTGGCATTCCAGAAATGCATAGAGATCCGTGGAGATAAACTCAGAGCGCAGCCTGCGCATTCCAGCAGGCCTGACTAACTACGGAAACATCCCGGCGGGCGGCGCACAGCACACAACATCTCATTAAACAATAGCCCCCGCCCCGCCCACAGGCTCTTCCCAGCCGCTCAAGGGACCACTGGTTGGGTGTTAACTCTTTGGACTATTCAGAACGACCTTTCTGACAGAGTGGATTTAATGTTTAAATAAAGAATGCCTTTGTGTGCGCCATGCATTTCTGGCAAAACGGTTTGAAATGTTCCAGTTTCCAACACAGGAGCCTGGGAGCTACACACTTGCAGAGGGAAAACTCAGATTCCCAGACAGAAGGGAGGCTTCCCGCTGTGCACAGAGATGCACATGGCACTGTCTCAGGGTGCAGCGCCCACAGGATTCAACAGACCCTGCAACCAGAGACCACTGCACCTACATGGTCCACAGGCAGAGGCTGCGCTTGCAGAAATCACTGAGCAGCTGAACCATCCAGCTAAGCAAGCTGGGGCTGCAGGGTGGCTGAGGCACATGGAGCCACATGCTCTGTCCACACAATCGGGTCGGCTAGATGGGCCCTACAGGACCCTGCAGGGTCTGCCTGGAGCCTCAGAGTGTGACCTTATTTGGAAATAAGATCTTTGCAGATACAATTAAGGTAAGGATGGAAATGAAGTCATCCTGGATTAGGGTGGACCCTAAGTCCAATTGCAGAGAAACTGTAAGAGGCAAATCAGGGCCCAGAGACACACCCAGGAGACTGTCACATGACGATGAGGCAGAGAGAGGAGTGATATAGCCACAACCCGAGGGACGCCTGGGGCATCCTACCCCAGAGGCTTCCGAGGGAGCCTGGCCCAGCTGACACTTTCTGACATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACGGTAACCTCCGCCTTCCTCCTCCCGAGTTCAAATGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAGATACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTTTAGTAGAGACGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTAATCTGCCTGCCTCGGAGTCCCAAAGTGCTGGGATTACAAGCATGAGACACTGCACCCAGCCCCAGCTGACACTTTCATTTCAGACTACTGCCCCCCAAACGTGAGATAATCCATGTCTGTTGTTCTGGGCCACCCGTGTGTGGTGATTTGGTACCACAGCCCCAGGACGCAGACACTGACAGGTCTCGCTACAAAGAAGCTCTCAGCGACCCTCCAGAGCCACTTTCAGCAGCAGGTGCTGGACACATGCAGGACAGGCCGAGCACTCCTGAGGCTGCCAGGGTGCAGTATCCCAAGACTGACCACCACAGTCCCTTACTGGGGCCATGTGTAAGGAGGGCTN
|
benign
| 322,363 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 19894969, gene TXNRD2 (thioredoxin reductase 2). What disease(s) is it linked to if pathogenic?
|
benign
|
TACTTTTACAACGTGGCTGAGAACATTGCTCTTGCTGACTGATCACCTCCGGGCCAAGAGCCCTGCGTGCGCTCAGGCATCTCAGGTCCTCCCCGGTCATCACCTCTGCGCTTGTGTCCACTGCACAAAAGTGAAGCCTCAGCCGCTCCAGGCTGGTTTCCTTTCTGATTTCCCATTCCGAGTGACTGCTTCAGAAGTGCATCACCCTATGACACAGCTTGTGCCTCTGGGAGCCCTCCCCCAGGAGACACTGACCCCTGGCCAGCCCCACGCAAGCCCGGTTAGCTGATGGAGGTGGAGGCAGGTGATCTGAGAGGGACCCTGGCTCTGATCTTGGGCTCTCGCAGGGGACAACGGACCAGGCTCAGCACAGAAAGGCCTCGGAGAACTAACAACACTGACTAGGTTGCTCCCGCCTTCAACATGCAAGTTGACAGGGTGATTGGGAAAACTAGGAGCCTAAACTAGACGGCCAGGCACCGAGGTGGGTAGGACATCTGAGCAGGCATGCTGTGTGTGCCGCCACCCACCCTGACGAGGACCCGCAGCCCTCCTTGCGGCGGCCCATCTGCAATGGCCTCCTCTGCAGCAGGCCTGGGACAGAGCAGTGTCTGGGCGATCCCTGTTGGCTCCAGCTGCCCCTTGCCAGTCCCGTCAGACAGCCCCGGCCCAGGCCTGGGCACAGGTATCCCCTGGCTGTGTCCACACTCCCCACACCTGCTCGGCCACTGCCCCATGCAAAACCGGACCTACACCTGACAGAGAGCAAGAAGGTGAGACCAGACTGTGCCCAGCAAGTTGTAGCCAGCCCACGCCTGGCCGGGAAACGCCCAGGCCTCTGCCCAGCACTGGAAGGGTGATGTCTTTGGAAGCCTTCGAAATGTGACTTCTGGAAAGGCCTGCAAAATGCCACTCCTGGCATGTGATGACCTGCCAGGCCCAAAGGGACCCACTGGGAAACACTGAAAGCCACGAGAAGGCTGGACAGAACTTTAAAAACTCTGTGTCATTTTTATGTGCTGAAAACAGGCGGCTTGTGCACACCCATGTTCACAGCAGCATGATCCACAACAGCCAAAAGACGGAAGCAACCTAAGTGTCCACTGACAGATAATGGACACACATACAACTCAGCCTTCAACAGGAAGGAAATGCTGGCACATGCTACACAAATGCTAACTCTAACAAATGCTGCAACATGGATGCACCCTGAAAACATTGTGCTAAGAGAAATGAGCCAGTCACAAAAGGACAAACACTGCATGATTCTACTTACATGAAGTCCCTCGAGGAGTCAGATCCATAGAGACACACAGTGAAGGGTGAGTGCCCGGGCAGCAGGGAGTGAGTGTTTAATGGGGACAGAGCTCAGTTTGGAGATAATGGAAAAGTTCTAGAGATGGATGGTCATGCTGCTTGTACAATATGAACGTACTTAACACCACTGAACTATATACTTTAAAATGCTTAAGATGATGAATTTGATGTTATGTGTATGTCACCATAATTTTTAAAACTTTCAAATCCATATCATTTTTATGTTAAAAACAACAAACTAGCTTGGCTGGGCACAGTAGCTCAAACCTGTAATCCCAGCACTTAGAAGGCTGAGATGGGAAGATTGATTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTATGATCACACCACCACACTCCTCCTAGGCAACAGAGAGAGACCCTGTTTCACACGCAAAAAAAGAAAAAAACCTAGCTGGAAAGCCTGAAGCAGCAAAACATTTAATATGCTAAAGAAAAAATACATACTGGCCAGGTGCGGTGGCTCACACCTGTAATCTCAGTACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCCTACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTCAGGTGTAGTGGTGGGCGCCTGTAGCCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAACATACCAAGACTTAAACCTGGAAGGTGACAAGTAGGATTTATGTGCTGAAACCTTAATAAGCAATTGCTCAAGGGCCAGGGAAGGCGAGGATGATTGCCTAGTTGATCCTCGATGAGGACACCTGGCTGATGCCGTCTCAGTCTCTTCTCTGGTTTTTTCCAGCATGTCCCACGGTGGTGGGGAGACACGCAGAGATGCAAGGTGCTGGGGATGGCAAGATGGGCACAGCCTAGTGTGAGTGCCGCCCCACAGGCCTTCACGGTTGCTCTCGAGGTGCACTGGGGAGCGGCCAACCCGCCTGGCAGCCAGCAGGATGGGGGAGCCCTGGGAGGTGACAGGAAGTGGGGCAAAGATTCTCCATGCACCTCGGGGAGACCAGAGACAGAGCGTGTGGCTCGACGTGCCCTTACCTATGGCCCACAGGACGGTGTCAAAGGTGCCCGTGTCCTCCTTGCCGGTGGTGCTGTCCTCCCAGGTGACCTGCAGCTGGCCATCAGGGAGCCTCCTGACCCGCGAGGGGGCACAGCCCCTCAGGAACCGGGTGCCATGAGATGCCATGTGCTCTATGACCATGGAGGACATTTGCTGCAAAGCACAAGAAGACAGGCCATGAAGACCAGGTGGCCGTGGGAGAGAGGCTCTGGCCCTGCCCTGCTCTCGAAGGCCTCAATGAAGGGCGGAGAGGGGTCTGTGCGGAAGACGGGGTGAGACACCCTGCCCCCTGCTCTACGTCCTCTTGCTCTCTGTGGAGTGTCTAGCCCCTGTCCTGGCTCCAAGTCCTCAACCCTGGGCCCTATGGTCAGGATTCACTCAGCCTGTGGGCTCCTCTCTAGATGCTAATTAACTAAGTCTTCATCAGCCAGATACGGTCACACCTGTAATCCCAACCTTTTGGGAGGCTGAAGTGGGAGAATCCCTCAAGCCCAGGAGTTTGAGGCTGCAATGAACTGTGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCTAAAAGAAAAAATAAGCAAGGCCGGGTGCGATGGCTCACACCTGTGATCCCAGCACTTTGAGAAGCTGAGGCGGGCGGATCACGAGGTCAGGAGATAGAGATCATCCTGGCTAACACGGTGAAACACTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAGGTACCTGTAGTTCCAGCTAACTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAACCAAAAAAAAAGAAAGAAAAAAAAGAAAAACAACCAAATCCTGGTACATCTACACATTTCTTTAAAAAACAAAAACAAAAAACTTAGTCTTCACTAAAACCAATGGCAGAGAAGCGTGCCTTCCCCCAGGAGCTGTGCCCTGGTCCAACAAGATGGCCCCTGCTCCTGGCCCACCCCTCCACATGTGGCCAACATGCCCCTCTGCCATCCAGGAGCCAGGAGGGTAGGTAGGAGACTCTGCTCCCGCCTAGAAATGTAGGCACAGCAGGCTCAGGTCCAGATCAGGGACAGAGAGAGTCCTGCTTCTCCCTCCCGGCCCAGGAGGCCTGTGCGCCCCAAGTCCAGCTACAGATGGGGGCCCTGTTCCCAGGACAATGGGGACTTGCACGGACCAGCAGTGAAGCTGGCCACAGCTTCTGGTTTCAAGAGGAGAAAAACAGTCACTGCTAACATCCTCTGACACCTGTGCGGGTGTGCCAGCTGGCTCTAGATGGCGTGTGTGGGAGTCTGGCCCGCCGGGCAGGGCTGGCTGTGCTGCAGAGGGGCTGCCGCACAGGCTGTTCATCACTCCTGCACCCCTCCAGAGGCCTGGAGGGCATGGCCATCCCAGGCTCTGAGGGAGAACCATGGAGCCTGTCCAGGACACAGGGTCCCTCGCCCCTCAGCCTGGCTGCCTAGACTGTGCATCCTCCTTGCCTGGGCACGGCCCCCATTCT
|
TACTTTTACAACGTGGCTGAGAACATTGCTCTTGCTGACTGATCACCTCCGGGCCAAGAGCCCTGCGTGCGCTCAGGCATCTCAGGTCCTCCCCGGTCATCACCTCTGCGCTTGTGTCCACTGCACAAAAGTGAAGCCTCAGCCGCTCCAGGCTGGTTTCCTTTCTGATTTCCCATTCCGAGTGACTGCTTCAGAAGTGCATCACCCTATGACACAGCTTGTGCCTCTGGGAGCCCTCCCCCAGGAGACACTGACCCCTGGCCAGCCCCACGCAAGCCCGGTTAGCTGATGGAGGTGGAGGCAGGTGATCTGAGAGGGACCCTGGCTCTGATCTTGGGCTCTCGCAGGGGACAACGGACCAGGCTCAGCACAGAAAGGCCTCGGAGAACTAACAACACTGACTAGGTTGCTCCCGCCTTCAACATGCAAGTTGACAGGGTGATTGGGAAAACTAGGAGCCTAAACTAGACGGCCAGGCACCGAGGTGGGTAGGACATCTGAGCAGGCATGCTGTGTGTGCCGCCACCCACCCTGACGAGGACCCGCAGCCCTCCTTGCGGCGGCCCATCTGCAATGGCCTCCTCTGCAGCAGGCCTGGGACAGAGCAGTGTCTGGGCGATCCCTGTTGGCTCCAGCTGCCCCTTGCCAGTCCCGTCAGACAGCCCCGGCCCAGGCCTGGGCACAGGTATCCCCTGGCTGTGTCCACACTCCCCACACCTGCTCGGCCACTGCCCCATGCAAAACCGGACCTACACCTGACAGAGAGCAAGAAGGTGAGACCAGACTGTGCCCAGCAAGTTGTAGCCAGCCCACGCCTGGCCGGGAAACGCCCAGGCCTCTGCCCAGCACTGGAAGGGTGATGTCTTTGGAAGCCTTCGAAATGTGACTTCTGGAAAGGCCTGCAAAATGCCACTCCTGGCATGTGATGACCTGCCAGGCCCAAAGGGACCCACTGGGAAACACTGAAAGCCACGAGAAGGCTGGACAGAACTTTAAAAACTCTGTGTCATTTTTATGTGCTGAAAACAGGCGGCTTGTGCACACCCATGTTCACAGCAGCATGATCCACAACAGCCAAAAGACGGAAGCAACCTAAGTGTCCACTGACAGATAATGGACACACATACAACTCAGCCTTCAACAGGAAGGAAATGCTGGCACATGCTACACAAATGCTAACTCTAACAAATGCTGCAACATGGATGCACCCTGAAAACATTGTGCTAAGAGAAATGAGCCAGTCACAAAAGGACAAACACTGCATGATTCTACTTACATGAAGTCCCTCGAGGAGTCAGATCCATAGAGACACACAGTGAAGGGTGAGTGCCCGGGCAGCAGGGAGTGAGTGTTTAATGGGGACAGAGCTCAGTTTGGAGATAATGGAAAAGTTCTAGAGATGGATGGTCATGCTGCTTGTACAATATGAACGTACTTAACACCACTGAACTATATACTTTAAAATGCTTAAGATGATGAATTTGATGTTATGTGTATGTCACCATAATTTTTAAAACTTTCAAATCCATATCATTTTTATGTTAAAAACAACAAACTAGCTTGGCTGGGCACAGTAGCTCAAACCTGTAATCCCAGCACTTAGAAGGCTGAGATGGGAAGATTGATTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTATGATCACACCACCACACTCCTCCTAGGCAACAGAGAGAGACCCTGTTTCACACGCAAAAAAAGAAAAAAACCTAGCTGGAAAGCCTGAAGCAGCAAAACATTTAATATGCTAAAGAAAAAATACATACTGGCCAGGTGCGGTGGCTCACACCTGTAATCTCAGTACTTTGGGAGGCCAAGGCAGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCCTACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTCAGGTGTAGTGGTGGGCGCCTGTAGCCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAACATACCAAGACTTAAACCTGGAAGGTGACAAGTAGGATTTATGTGCTGAAACCTTAATAAGCAATTGCTCAAGGGCCAGGGAAGGCGAGGATGATTGCCTAGTTGATCCTCGATGAGGACACCTGGCTGATGCCGTCTCAGTCTCTTCTCTGGTTTTTTCCAGCATGTCCCACGGTGGTGGGGAGACACGCAGAGATGCAAGGTGCTGGGGATGGCAAGATGGGCACAGCCTAGTGTGAGTGCCGCCCCACAGGCCTTCACGGTTGCTCTCGAGGTGCACTGGGGAGCGGCCAACCCGCCTGGCAGCCAGCAGGATGGGGGAGCCCTGGGAGGTGACAGGAAGTGGGGCAAAGATTCTCCATGCACCTCGGGGAGACCAGAGACAGAGCGTGTGGCTCGACGTGCCCTTACCTATGGCCCACAGGACGGTGTCAAAGGTGCCCGTGTCCTCCTTGCCGGTGGTGCTGTCCTCCCAGGTGACCTGCAGCTGGCCATCAGGGAGCCTCCTGACCCGCGAGGGGGCACAGCCCCTCAGGAACCGGGTGCCATGAGATGCCATGTGCTCTATGACCATGGAGGACATTTGCTGCAAAGCACAAGAAGACAGGCCATGAAGACCAGGTGGCCGTGGGAGAGAGGCTCTGGCCCTGCCCTGCTCTCGAAGGCCTCAATGAAGGGCGGAGAGGGGTCTGTGCGGAAGACGGGGTGAGACACCCTGCCCCCTGCTCTACGTCCTCTTGCTCTCTGTGGAGTGTCTAGCCCCTGTCCTGGCTCCAAGTCCTCAACCCTGGGCCCTATGGTCAGGATTCACTCAGCCTGTGGGCTCCTCTCTAGATGCTAATTAACTAAGTCTTCATCAGCCAGATACGGTCACACCTGTAATCCCAACCTTTTGGGAGGCTGAAGTGGGAGAATCCCTCAAGCCCAGGAGTTTGAGGCTGCAATGAACTGTGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCTAAAAGAAAAAATAAGCAAGGCCGGGTGCGATGGCTCACACCTGTGATCCCAGCACTTTGAGAAGCTGAGGCGGGCGGATCACGAGGTCAGGAGATAGAGATCATCCTGGCTAACACGGTGAAACACTGTCTCTACTAAAAAACACAAAAAATTAGCCAGGCGTGGTGGCAGGTACCTGTAGTTCCAGCTAACTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAACCAAAAAAAAAGAAAGAAAAAAAAGAAAAACAACCAAATCCTGGTACATCTACACATTTCTTTAAAAAACAAAAACAAAAAACTTAGTCTTCACTAAAACCAATGGCAGAGAAGCGTGCCTTCCCCCAGGAGCTGTGCCCTGGTCCAACAAGATGGCCCCTGCTCCTGGCCCACCCCTCCACATGTGGCCAACATGCCCCTCTGCCATCCAGGAGCCAGGAGGGTAGGTAGGAGACTCTGCTCCCGCCTAGAAATGTAGGCACAGCAGGCTCAGGTCCAGATCAGGGACAGAGAGAGTCCTGCTTCTCCCTCCCGGCCCAGGAGGCCTGTGCGCCCCAAGTCCAGCTACAGATGGGGGCCCTGTTCCCAGGACAATGGGGACTTGCACGGACCAGCAGTGAAGCTGGCCACAGCTTCTGGTTTCAAGAGGAGAAAAACAGTCACTGCTAACATCCTCTGACACCTGTGCGGGTGTGCCAGCTGGCTCTAGATGGCGTGTGTGGGAGTCTGGCCCGCCGGGCAGGGCTGGCTGTGCTGCAGAGGGGCTGCCGCACAGGCTGTTCATCACTCCTGCACCCCTCCAGAGGCCTGGAGGGCATGGCCATCCCAGGCTCTGAGGGAGAACCATGGAGCCTGTCCAGGACACAGGGTCCCTCGCCCCTCAGCCTGGCTGCCTAGACTGTGCATCCTCCTTGCCTGGGCACGGCCCCCATTCTN
|
benign
| 322,377 |
Is the variant located on chromosome 22 at position 19915195, gene TXNRD2 (thioredoxin reductase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
ACTCTGCCCCCACAACCCACAAGACTGGGCCAGGAGTTATTCACCTCTCTGTTAAAAACAGCGATAAAACTGGCAAGAACTGGGAGATTCAGAATTATGGAAATTAACCACAGGCTTGCAGCAACACAGGGAACATTTAAAGTCAGGAAAAACAGCTGAAGCTGAGTGAGAATGGGAACTCCAGGGTGTTTTAACTCACTCTGGTCCCACTCCCACCTCAGCGGCAGCCCTGAACAGTGATGTGTCAGAGAGAGCAGAACTCAGCTGGGGTCTTTCAAAGCCCCCCCACAAAGAAGAGTCAGAGTCAGCAACTATAGGGTCATCTTCATCCAACTTCACCGGAGCTCAGCCAGGGCTAAAAGCCTTTCTCTGGGGGCATTTGTCTGAGGTTTTCTTCTCACAGCTGCCTGAGGGGATAGGTAACAGTTAGAGCCAACAACAGACTGCCCAAAAAGCTTCAAAGGAAAAGCCAAAGTATGAGATGTCTGCTGGAGCTTTGAAAGGTTCCAGCATATTCCTGGGAACCTAGGCCAGGCGCATGCACAGCACTGTGCACACATCAGGAAGGACCAACGAGGCCCTGAACCCTCACCTCCAGCTGACCTTGATCTCTGCAGAAGCAGGAAGTGAAGGCTAGGGCAGAGCTGTCTGCTGCCTGTTGAGTGTGGAAGGCATCCCCTCCAAACGCACACAGAGCCCTCAGCAAAGACCGGGAGAGTTCTTAGTTTAGGGAAATCTCCATGCAGTTCTTAGCTGACCACTAAGCTAACCAAGTAAAGACTTCAGTGGCCACATACATCAAAGAATAAGAGTCTACAAAGTCAGTTCCGAAAAGTCACCAAATAAGCAGCTGTAACAACAGAATCCTGGGGCAGAGGGAGAATCTGGTTTCCAAAGTTATCGCATTAAATTATTTGAAATGTTCAGCTTTCAATAAAAAAATTACAAGATACGTGAAGAAACAAGAAACCATGACCCTTACACCCCACTGGAAGGAATGTAAAACACAGTCATTGTGGAAAACAGTCTGAGGTTCCTTGAAACGTTCCTTGAAAGATTCAACATAAAGTTACCACATGACCCAGCAGTTCTGCTCCTAAGTGTAACCCAAGAGAAGTGAAAACTGAAGTCCACCAAAAAACTTCTTTGCAGATGTTCACAGCGGCACTATTCATAATAGCTAAAAAGTGGAAATAACACATGTGTTTATCCAAGCAAGTAGATAAACAAAGTGTGGTCTATCCATACAATGGAATAGTATCTAGCCATAAAAAGGAATGATACTGACACACACTACAATGTAGGTGAACCTGGAGGATGTTATGCTCAGTGAAGTAAGCCAGTCACTAAGGGACACACACATACGAGTCACTAAGGGACACACACGTACCAGTTACATGAGAAGGACTTACATGTACGATTTCACTTACACGAGGTGCCTAGTGTTGTCACATTCATAGAGACAGAAAGTAGGTGGTGGTTTCTAGGGGCTGGGGGAGGAGGCGCTGGGGAGTAGGGTTTAATGGGAATAGTTTCAGTTCAGGGATGATGGAAGGAGTTCTGGCAATGGATGGTGGTGACTGATGGCCGCACAGCTCTGTGAATGTACTAAAAACCACTGAATTGTACCCTAAAAAAGGCTAAATTTTATAGCGTGTGAATTTTATTTCAAACTTTTTTTAAACTGGGGGACGTGAAGGAGGAAGATGAAGAATGAGGCTTATATCCTGAATGTTCCAACATTCTGAGGCTGAAGGGAAAAGGGGGAATCAGCAATGGAGACTTAGGAAGCAGGATCCTGGTGTGGAAGGGGACAGATCCAGCGGGGCAGGGGGAGAGCAGAACGAGAGCTGTCCTGAGGATCTGGCAGCGTGGAGGCCACTGGGGACCCCACATTTCAGCAGTGTGGATTCAAGAGAATTGGAAAGCAGAAAGTGATGATAGTGAGTATAGGGGGAAAGGGTGTGCAAGCTGCTGCTGTGGGAAGCACGTGTGTAAAAACGTATCCCTCAAAGAGGCCGGGAATGGGCCACGGCAGCAGGGACGCTATGCTCTGGGGACACTCACGTGCGTGGGGTATCTCGGCCGCCCTCCAGTAGCAATGATGATGTGATCGGCTGACAGCAGAATCTGAGGAGAAAAAGAGAAAGCCGTGGGTCAGACAGGTGCATGGTGATCACCCCACCGGAGGGCCTGAGCACCACAGACCTTGGCCAGCAGTTCCCACGGCCCCTGCCCTGTAGCGTGGACCCTTGGCCAGCAGTTCAGAGGCCCTATGGAGCTGGAATCCCATCAACCATCAGCCTGGCAGGAGGGGGACAGGCAGAAAGCACAGGGAGATGTTCTAACTCCAAGCACTTCAAGGCACCCTCAAATCCCCAAAAAATCCTGCAAAAAGGGTGTGGTCACCAACCCTGTTGCCATGCCACTCCGAGCAGCAGGGCAGCAAATTATTTGATCACGTTAAAGACAAGTGCCCAGCCTCAAAAGAAGCCACCTTTTTGATTCCAGCAGCACGTGTTACTAAGAACAGCACCCAGGCCAAACACAGCTGCAGTTGGTGCCCAAGGTCTGCAGAAGGGTCCACAAGGAGCCACGCGAGTAAGTCAGATGCTCACCTCTTTCCCACCTTTGGCAACGCCGCAAACCGTGTGCTCGTCAACAAAGCTGGCTTTGATGTTAAAGTACTTGACTTTTCTGAAAGATAAAGATAAGATTTTCAAACACTTCCTCTGCAAATTAAACCTCACCAACTGGATCAATAGGGAACACTGGTAAAAGGGAGCTCCAGCCCCCAGCAGGGCCTGGTGCTGTGGCTCAGATGGACCAAGAGGTAAGCGGCAACCATGCTGAGAAGCATGGAGGGGATGTGGGGGCACCTCGCCTGTCCCCCAGGGATCCCAGGGACATGTTAACCACAGGTGTCAAAGCAGGGACGGAAGCCAGCTCAGCACGGTCCTAAGAGGCCACGTACAGCCCTGGTGTGCAGCAAGAGGTGGCTGGACCTCTCTTGGGGACAGTCCTCATCACCCGGACATGTTCCAGCAGGGAGCTGTGGTGCCCACCAGATGGTGTCACCTTCTGATTTCAGGGGTGTGGTAACACCAAGAGAACGGGCATGACAAGGCTGGCAAAACAGTGGCTGGGAGCATAGTGCACAGAAACAAATGACCCACGCTTTCTTTTCTTTTTTTTTTTTCTGAGTCAAAGTCTCACTCTGTCGCCCAGGCTGGAGTTCAGTGGCACGATCTTGGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCCATTCTCTTGCCTCAGCTCTTGCCTCAGCCTCCTGAGAAGCTGGGATTACAGGCTTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCCACCCTTTTTTTTTTTTTTAAAGACATCTTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACGGAAGCCTTGTTTCAAGTAACTGGAACTATAGGCATGGGCAACCATACCTGGCTAGTTCATTTTATTTTTTGTAGGGATGTAGCAATAAAACTATGTTGCTCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCGACCAACACTTTCTAATGACAAAAGGACCGTGCTGCAGCAAGGGTTCTGGGAAGGCTCTGCCTCCTGCTTGAGCCTGCCTTCTCCCCACTGGCAAGCCTGTGCCTCTATGGGCTGTCTGAGCTGCGTGAAGTTCCTACAGCAAGAGCCCTTCAATCACCTCGACAGCCAGGAAGCTGCCACGGGACACAGCCGGGCAATGCTCATGGCAGCACTTTTCAGAAGAGTGAAAAAGCAGAAACAGCCCAGGTGCGCCCCAGCCTCCTTCTGCAGGTGGCTCCGGAGCAGGCAGTGGGCTGGGCCTGTTTGGTGCCCGTCCAGGAGCTGCCCAGGGCAGGGA
|
ACTCTGCCCCCACAACCCACAAGACTGGGCCAGGAGTTATTCACCTCTCTGTTAAAAACAGCGATAAAACTGGCAAGAACTGGGAGATTCAGAATTATGGAAATTAACCACAGGCTTGCAGCAACACAGGGAACATTTAAAGTCAGGAAAAACAGCTGAAGCTGAGTGAGAATGGGAACTCCAGGGTGTTTTAACTCACTCTGGTCCCACTCCCACCTCAGCGGCAGCCCTGAACAGTGATGTGTCAGAGAGAGCAGAACTCAGCTGGGGTCTTTCAAAGCCCCCCCACAAAGAAGAGTCAGAGTCAGCAACTATAGGGTCATCTTCATCCAACTTCACCGGAGCTCAGCCAGGGCTAAAAGCCTTTCTCTGGGGGCATTTGTCTGAGGTTTTCTTCTCACAGCTGCCTGAGGGGATAGGTAACAGTTAGAGCCAACAACAGACTGCCCAAAAAGCTTCAAAGGAAAAGCCAAAGTATGAGATGTCTGCTGGAGCTTTGAAAGGTTCCAGCATATTCCTGGGAACCTAGGCCAGGCGCATGCACAGCACTGTGCACACATCAGGAAGGACCAACGAGGCCCTGAACCCTCACCTCCAGCTGACCTTGATCTCTGCAGAAGCAGGAAGTGAAGGCTAGGGCAGAGCTGTCTGCTGCCTGTTGAGTGTGGAAGGCATCCCCTCCAAACGCACACAGAGCCCTCAGCAAAGACCGGGAGAGTTCTTAGTTTAGGGAAATCTCCATGCAGTTCTTAGCTGACCACTAAGCTAACCAAGTAAAGACTTCAGTGGCCACATACATCAAAGAATAAGAGTCTACAAAGTCAGTTCCGAAAAGTCACCAAATAAGCAGCTGTAACAACAGAATCCTGGGGCAGAGGGAGAATCTGGTTTCCAAAGTTATCGCATTAAATTATTTGAAATGTTCAGCTTTCAATAAAAAAATTACAAGATACGTGAAGAAACAAGAAACCATGACCCTTACACCCCACTGGAAGGAATGTAAAACACAGTCATTGTGGAAAACAGTCTGAGGTTCCTTGAAACGTTCCTTGAAAGATTCAACATAAAGTTACCACATGACCCAGCAGTTCTGCTCCTAAGTGTAACCCAAGAGAAGTGAAAACTGAAGTCCACCAAAAAACTTCTTTGCAGATGTTCACAGCGGCACTATTCATAATAGCTAAAAAGTGGAAATAACACATGTGTTTATCCAAGCAAGTAGATAAACAAAGTGTGGTCTATCCATACAATGGAATAGTATCTAGCCATAAAAAGGAATGATACTGACACACACTACAATGTAGGTGAACCTGGAGGATGTTATGCTCAGTGAAGTAAGCCAGTCACTAAGGGACACACACATACGAGTCACTAAGGGACACACACGTACCAGTTACATGAGAAGGACTTACATGTACGATTTCACTTACACGAGGTGCCTAGTGTTGTCACATTCATAGAGACAGAAAGTAGGTGGTGGTTTCTAGGGGCTGGGGGAGGAGGCGCTGGGGAGTAGGGTTTAATGGGAATAGTTTCAGTTCAGGGATGATGGAAGGAGTTCTGGCAATGGATGGTGGTGACTGATGGCCGCACAGCTCTGTGAATGTACTAAAAACCACTGAATTGTACCCTAAAAAAGGCTAAATTTTATAGCGTGTGAATTTTATTTCAAACTTTTTTTAAACTGGGGGACGTGAAGGAGGAAGATGAAGAATGAGGCTTATATCCTGAATGTTCCAACATTCTGAGGCTGAAGGGAAAAGGGGGAATCAGCAATGGAGACTTAGGAAGCAGGATCCTGGTGTGGAAGGGGACAGATCCAGCGGGGCAGGGGGAGAGCAGAACGAGAGCTGTCCTGAGGATCTGGCAGCGTGGAGGCCACTGGGGACCCCACATTTCAGCAGTGTGGATTCAAGAGAATTGGAAAGCAGAAAGTGATGATAGTGAGTATAGGGGGAAAGGGTGTGCAAGCTGCTGCTGTGGGAAGCACGTGTGTAAAAACGTATCCCTCAAAGAGGCCGGGAATGGGCCACGGCAGCAGGGACGCTAGCTCTGGGGACACTCACGTGCGTGGGGTATCTCGGCCGCCCTCCAGTAGCAATGATGATGTGATCGGCTGACAGCAGAATCTGAGGAGAAAAAGAGAAAGCCGTGGGTCAGACAGGTGCATGGTGATCACCCCACCGGAGGGCCTGAGCACCACAGACCTTGGCCAGCAGTTCCCACGGCCCCTGCCCTGTAGCGTGGACCCTTGGCCAGCAGTTCAGAGGCCCTATGGAGCTGGAATCCCATCAACCATCAGCCTGGCAGGAGGGGGACAGGCAGAAAGCACAGGGAGATGTTCTAACTCCAAGCACTTCAAGGCACCCTCAAATCCCCAAAAAATCCTGCAAAAAGGGTGTGGTCACCAACCCTGTTGCCATGCCACTCCGAGCAGCAGGGCAGCAAATTATTTGATCACGTTAAAGACAAGTGCCCAGCCTCAAAAGAAGCCACCTTTTTGATTCCAGCAGCACGTGTTACTAAGAACAGCACCCAGGCCAAACACAGCTGCAGTTGGTGCCCAAGGTCTGCAGAAGGGTCCACAAGGAGCCACGCGAGTAAGTCAGATGCTCACCTCTTTCCCACCTTTGGCAACGCCGCAAACCGTGTGCTCGTCAACAAAGCTGGCTTTGATGTTAAAGTACTTGACTTTTCTGAAAGATAAAGATAAGATTTTCAAACACTTCCTCTGCAAATTAAACCTCACCAACTGGATCAATAGGGAACACTGGTAAAAGGGAGCTCCAGCCCCCAGCAGGGCCTGGTGCTGTGGCTCAGATGGACCAAGAGGTAAGCGGCAACCATGCTGAGAAGCATGGAGGGGATGTGGGGGCACCTCGCCTGTCCCCCAGGGATCCCAGGGACATGTTAACCACAGGTGTCAAAGCAGGGACGGAAGCCAGCTCAGCACGGTCCTAAGAGGCCACGTACAGCCCTGGTGTGCAGCAAGAGGTGGCTGGACCTCTCTTGGGGACAGTCCTCATCACCCGGACATGTTCCAGCAGGGAGCTGTGGTGCCCACCAGATGGTGTCACCTTCTGATTTCAGGGGTGTGGTAACACCAAGAGAACGGGCATGACAAGGCTGGCAAAACAGTGGCTGGGAGCATAGTGCACAGAAACAAATGACCCACGCTTTCTTTTCTTTTTTTTTTTTCTGAGTCAAAGTCTCACTCTGTCGCCCAGGCTGGAGTTCAGTGGCACGATCTTGGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCCATTCTCTTGCCTCAGCTCTTGCCTCAGCCTCCTGAGAAGCTGGGATTACAGGCTTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCCACCCTTTTTTTTTTTTTTAAAGACATCTTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACGGAAGCCTTGTTTCAAGTAACTGGAACTATAGGCATGGGCAACCATACCTGGCTAGTTCATTTTATTTTTTGTAGGGATGTAGCAATAAAACTATGTTGCTCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCGACCAACACTTTCTAATGACAAAAGGACCGTGCTGCAGCAAGGGTTCTGGGAAGGCTCTGCCTCCTGCTTGAGCCTGCCTTCTCCCCACTGGCAAGCCTGTGCCTCTATGGGCTGTCTGAGCTGCGTGAAGTTCCTACAGCAAGAGCCCTTCAATCACCTCGACAGCCAGGAAGCTGCCACGGGACACAGCCGGGCAATGCTCATGGCAGCACTTTTCAGAAGAGTGAAAAAGCAGAAACAGCCCAGGTGCGCCCCAGCCTCCTTCTGCAGGTGGCTCCGGAGCAGGCAGTGGGCTGGGCCTGTTTGGTGCCCGTCCAGGAGCTGCCCAGGGCAGGGAN
|
benign
| 322,420 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 19915856, gene TXNRD2 (thioredoxin reductase 2). What disease(s) is it linked to if pathogenic?
|
benign
|
AGTGTGGAAGGCATCCCCTCCAAACGCACACAGAGCCCTCAGCAAAGACCGGGAGAGTTCTTAGTTTAGGGAAATCTCCATGCAGTTCTTAGCTGACCACTAAGCTAACCAAGTAAAGACTTCAGTGGCCACATACATCAAAGAATAAGAGTCTACAAAGTCAGTTCCGAAAAGTCACCAAATAAGCAGCTGTAACAACAGAATCCTGGGGCAGAGGGAGAATCTGGTTTCCAAAGTTATCGCATTAAATTATTTGAAATGTTCAGCTTTCAATAAAAAAATTACAAGATACGTGAAGAAACAAGAAACCATGACCCTTACACCCCACTGGAAGGAATGTAAAACACAGTCATTGTGGAAAACAGTCTGAGGTTCCTTGAAACGTTCCTTGAAAGATTCAACATAAAGTTACCACATGACCCAGCAGTTCTGCTCCTAAGTGTAACCCAAGAGAAGTGAAAACTGAAGTCCACCAAAAAACTTCTTTGCAGATGTTCACAGCGGCACTATTCATAATAGCTAAAAAGTGGAAATAACACATGTGTTTATCCAAGCAAGTAGATAAACAAAGTGTGGTCTATCCATACAATGGAATAGTATCTAGCCATAAAAAGGAATGATACTGACACACACTACAATGTAGGTGAACCTGGAGGATGTTATGCTCAGTGAAGTAAGCCAGTCACTAAGGGACACACACATACGAGTCACTAAGGGACACACACGTACCAGTTACATGAGAAGGACTTACATGTACGATTTCACTTACACGAGGTGCCTAGTGTTGTCACATTCATAGAGACAGAAAGTAGGTGGTGGTTTCTAGGGGCTGGGGGAGGAGGCGCTGGGGAGTAGGGTTTAATGGGAATAGTTTCAGTTCAGGGATGATGGAAGGAGTTCTGGCAATGGATGGTGGTGACTGATGGCCGCACAGCTCTGTGAATGTACTAAAAACCACTGAATTGTACCCTAAAAAAGGCTAAATTTTATAGCGTGTGAATTTTATTTCAAACTTTTTTTAAACTGGGGGACGTGAAGGAGGAAGATGAAGAATGAGGCTTATATCCTGAATGTTCCAACATTCTGAGGCTGAAGGGAAAAGGGGGAATCAGCAATGGAGACTTAGGAAGCAGGATCCTGGTGTGGAAGGGGACAGATCCAGCGGGGCAGGGGGAGAGCAGAACGAGAGCTGTCCTGAGGATCTGGCAGCGTGGAGGCCACTGGGGACCCCACATTTCAGCAGTGTGGATTCAAGAGAATTGGAAAGCAGAAAGTGATGATAGTGAGTATAGGGGGAAAGGGTGTGCAAGCTGCTGCTGTGGGAAGCACGTGTGTAAAAACGTATCCCTCAAAGAGGCCGGGAATGGGCCACGGCAGCAGGGACGCTATGCTCTGGGGACACTCACGTGCGTGGGGTATCTCGGCCGCCCTCCAGTAGCAATGATGATGTGATCGGCTGACAGCAGAATCTGAGGAGAAAAAGAGAAAGCCGTGGGTCAGACAGGTGCATGGTGATCACCCCACCGGAGGGCCTGAGCACCACAGACCTTGGCCAGCAGTTCCCACGGCCCCTGCCCTGTAGCGTGGACCCTTGGCCAGCAGTTCAGAGGCCCTATGGAGCTGGAATCCCATCAACCATCAGCCTGGCAGGAGGGGGACAGGCAGAAAGCACAGGGAGATGTTCTAACTCCAAGCACTTCAAGGCACCCTCAAATCCCCAAAAAATCCTGCAAAAAGGGTGTGGTCACCAACCCTGTTGCCATGCCACTCCGAGCAGCAGGGCAGCAAATTATTTGATCACGTTAAAGACAAGTGCCCAGCCTCAAAAGAAGCCACCTTTTTGATTCCAGCAGCACGTGTTACTAAGAACAGCACCCAGGCCAAACACAGCTGCAGTTGGTGCCCAAGGTCTGCAGAAGGGTCCACAAGGAGCCACGCGAGTAAGTCAGATGCTCACCTCTTTCCCACCTTTGGCAACGCCGCAAACCGTGTGCTCGTCAACAAAGCTGGCTTTGATGTTAAAGTACTTGACTTTTCTGAAAGATAAAGATAAGATTTTCAAACACTTCCTCTGCAAATTAAACCTCACCAACTGGATCAATAGGGAACACTGGTAAAAGGGAGCTCCAGCCCCCAGCAGGGCCTGGTGCTGTGGCTCAGATGGACCAAGAGGTAAGCGGCAACCATGCTGAGAAGCATGGAGGGGATGTGGGGGCACCTCGCCTGTCCCCCAGGGATCCCAGGGACATGTTAACCACAGGTGTCAAAGCAGGGACGGAAGCCAGCTCAGCACGGTCCTAAGAGGCCACGTACAGCCCTGGTGTGCAGCAAGAGGTGGCTGGACCTCTCTTGGGGACAGTCCTCATCACCCGGACATGTTCCAGCAGGGAGCTGTGGTGCCCACCAGATGGTGTCACCTTCTGATTTCAGGGGTGTGGTAACACCAAGAGAACGGGCATGACAAGGCTGGCAAAACAGTGGCTGGGAGCATAGTGCACAGAAACAAATGACCCACGCTTTCTTTTCTTTTTTTTTTTTCTGAGTCAAAGTCTCACTCTGTCGCCCAGGCTGGAGTTCAGTGGCACGATCTTGGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCCATTCTCTTGCCTCAGCTCTTGCCTCAGCCTCCTGAGAAGCTGGGATTACAGGCTTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCCACCCTTTTTTTTTTTTTTAAAGACATCTTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACGGAAGCCTTGTTTCAAGTAACTGGAACTATAGGCATGGGCAACCATACCTGGCTAGTTCATTTTATTTTTTGTAGGGATGTAGCAATAAAACTATGTTGCTCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCGACCAACACTTTCTAATGACAAAAGGACCGTGCTGCAGCAAGGGTTCTGGGAAGGCTCTGCCTCCTGCTTGAGCCTGCCTTCTCCCCACTGGCAAGCCTGTGCCTCTATGGGCTGTCTGAGCTGCGTGAAGTTCCTACAGCAAGAGCCCTTCAATCACCTCGACAGCCAGGAAGCTGCCACGGGACACAGCCGGGCAATGCTCATGGCAGCACTTTTCAGAAGAGTGAAAAAGCAGAAACAGCCCAGGTGCGCCCCAGCCTCCTTCTGCAGGTGGCTCCGGAGCAGGCAGTGGGCTGGGCCTGTTTGGTGCCCGTCCAGGAGCTGCCCAGGGCAGGGAGGAGGGAGGGCAGAGCCTGCTGTCCCCAGGAAACTGTACCAGGGGATACAGAGCCCCACAGAGAAACACAGAAATGCCACAGCACAATGTGGCTTAGCTCCCTGGATAGGGGAGAGCTTGTGAGGTCCAGGTGGAGGGCAAGCAGTTGGCTTCCTGGCTCCACTTTCCTGGATTTAGTGAGCACAAAACTGCTGCCTGCTGTGAAGCCCCAGGAAGACCCGCCCTGGGGCCAAGCAAATGGTGCATGAGGAGAGCCACCAGACCTCTGCGGGACCACTGTCCCCTCCACAGCCCCGGGAGAAAGGCTGGGCCAGAGGCGGTACCAGTTTCAGGCATCTGCTGTGCTGGCAGCTGAGCCCCAGGAGAAGGTTGTAGGCCAGGGGAGCATAGGCCTCTGTGCTGGAGATCCCCAGGGGCTGACAGGAACGGTGACCAAGTAGGGACATTTGCTCCAGCGGAAAGCACCAAGCTCCTGCACCCACACCCAAGGAGCTGGAGGTGTGCAGTAAGAAGGGGGTTCACGGGGTGGGGGCTTGCCACTGGGATGACCCTCACCACATATTAGCCCCAGGCCTAGCTATGTCCACGCTCTCTGGCCTGAGGCCTTCCAGCCCCAAGCGCCTCCTCCCTGTGCAGCCCTGGGCTCTGGCCATTCTGCCAA
|
AGTGTGGAAGGCATCCCCTCCAAACGCACACAGAGCCCTCAGCAAAGACCGGGAGAGTTCTTAGTTTAGGGAAATCTCCATGCAGTTCTTAGCTGACCACTAAGCTAACCAAGTAAAGACTTCAGTGGCCACATACATCAAAGAATAAGAGTCTACAAAGTCAGTTCCGAAAAGTCACCAAATAAGCAGCTGTAACAACAGAATCCTGGGGCAGAGGGAGAATCTGGTTTCCAAAGTTATCGCATTAAATTATTTGAAATGTTCAGCTTTCAATAAAAAAATTACAAGATACGTGAAGAAACAAGAAACCATGACCCTTACACCCCACTGGAAGGAATGTAAAACACAGTCATTGTGGAAAACAGTCTGAGGTTCCTTGAAACGTTCCTTGAAAGATTCAACATAAAGTTACCACATGACCCAGCAGTTCTGCTCCTAAGTGTAACCCAAGAGAAGTGAAAACTGAAGTCCACCAAAAAACTTCTTTGCAGATGTTCACAGCGGCACTATTCATAATAGCTAAAAAGTGGAAATAACACATGTGTTTATCCAAGCAAGTAGATAAACAAAGTGTGGTCTATCCATACAATGGAATAGTATCTAGCCATAAAAAGGAATGATACTGACACACACTACAATGTAGGTGAACCTGGAGGATGTTATGCTCAGTGAAGTAAGCCAGTCACTAAGGGACACACACATACGAGTCACTAAGGGACACACACGTACCAGTTACATGAGAAGGACTTACATGTACGATTTCACTTACACGAGGTGCCTAGTGTTGTCACATTCATAGAGACAGAAAGTAGGTGGTGGTTTCTAGGGGCTGGGGGAGGAGGCGCTGGGGAGTAGGGTTTAATGGGAATAGTTTCAGTTCAGGGATGATGGAAGGAGTTCTGGCAATGGATGGTGGTGACTGATGGCCGCACAGCTCTGTGAATGTACTAAAAACCACTGAATTGTACCCTAAAAAAGGCTAAATTTTATAGCGTGTGAATTTTATTTCAAACTTTTTTTAAACTGGGGGACGTGAAGGAGGAAGATGAAGAATGAGGCTTATATCCTGAATGTTCCAACATTCTGAGGCTGAAGGGAAAAGGGGGAATCAGCAATGGAGACTTAGGAAGCAGGATCCTGGTGTGGAAGGGGACAGATCCAGCGGGGCAGGGGGAGAGCAGAACGAGAGCTGTCCTGAGGATCTGGCAGCGTGGAGGCCACTGGGGACCCCACATTTCAGCAGTGTGGATTCAAGAGAATTGGAAAGCAGAAAGTGATGATAGTGAGTATAGGGGGAAAGGGTGTGCAAGCTGCTGCTGTGGGAAGCACGTGTGTAAAAACGTATCCCTCAAAGAGGCCGGGAATGGGCCACGGCAGCAGGGACGCTATGCTCTGGGGACACTCACGTGCGTGGGGTATCTCGGCCGCCCTCCAGTAGCAATGATGATGTGATCGGCTGACAGCAGAATCTGAGGAGAAAAAGAGAAAGCCGTGGGTCAGACAGGTGCATGGTGATCACCCCACCGGAGGGCCTGAGCACCACAGACCTTGGCCAGCAGTTCCCACGGCCCCTGCCCTGTAGCGTGGACCCTTGGCCAGCAGTTCAGAGGCCCTATGGAGCTGGAATCCCATCAACCATCAGCCTGGCAGGAGGGGGACAGGCAGAAAGCACAGGGAGATGTTCTAACTCCAAGCACTTCAAGGCACCCTCAAATCCCCAAAAAATCCTGCAAAAAGGGTGTGGTCACCAACCCTGTTGCCATGCCACTCCGAGCAGCAGGGCAGCAAATTATTTGATCACGTTAAAGACAAGTGCCCAGCCTCAAAAGAAGCCACCTTTTTGATTCCAGCAGCACGTGTTACTAAGAACAGCACCCAGGCCAAACACAGCTGCAGTTGGTGCCCAAGGTCTGCAGAAGGGTCCACAAGGAGCCACGCGAGTAAGTCAGATGCTCACCTCTTTCCCACCTTTGGCAACGCCGCAAACCGTGTGCTCGTCAACAAAGCTGGCTTTGATGTTAAAGTACTTGACTTTTCTGAAAGATAAAGAAGATTTTCAAACACTTCCTCTGCAAATTAAACCTCACCAACTGGATCAATAGGGAACACTGGTAAAAGGGAGCTCCAGCCCCCAGCAGGGCCTGGTGCTGTGGCTCAGATGGACCAAGAGGTAAGCGGCAACCATGCTGAGAAGCATGGAGGGGATGTGGGGGCACCTCGCCTGTCCCCCAGGGATCCCAGGGACATGTTAACCACAGGTGTCAAAGCAGGGACGGAAGCCAGCTCAGCACGGTCCTAAGAGGCCACGTACAGCCCTGGTGTGCAGCAAGAGGTGGCTGGACCTCTCTTGGGGACAGTCCTCATCACCCGGACATGTTCCAGCAGGGAGCTGTGGTGCCCACCAGATGGTGTCACCTTCTGATTTCAGGGGTGTGGTAACACCAAGAGAACGGGCATGACAAGGCTGGCAAAACAGTGGCTGGGAGCATAGTGCACAGAAACAAATGACCCACGCTTTCTTTTCTTTTTTTTTTTTCTGAGTCAAAGTCTCACTCTGTCGCCCAGGCTGGAGTTCAGTGGCACGATCTTGGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCCATTCTCTTGCCTCAGCTCTTGCCTCAGCCTCCTGAGAAGCTGGGATTACAGGCTTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGCGCCCCACCCTTTTTTTTTTTTTTAAAGACATCTTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACGGAAGCCTTGTTTCAAGTAACTGGAACTATAGGCATGGGCAACCATACCTGGCTAGTTCATTTTATTTTTTGTAGGGATGTAGCAATAAAACTATGTTGCTCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCACCCGACCAACACTTTCTAATGACAAAAGGACCGTGCTGCAGCAAGGGTTCTGGGAAGGCTCTGCCTCCTGCTTGAGCCTGCCTTCTCCCCACTGGCAAGCCTGTGCCTCTATGGGCTGTCTGAGCTGCGTGAAGTTCCTACAGCAAGAGCCCTTCAATCACCTCGACAGCCAGGAAGCTGCCACGGGACACAGCCGGGCAATGCTCATGGCAGCACTTTTCAGAAGAGTGAAAAAGCAGAAACAGCCCAGGTGCGCCCCAGCCTCCTTCTGCAGGTGGCTCCGGAGCAGGCAGTGGGCTGGGCCTGTTTGGTGCCCGTCCAGGAGCTGCCCAGGGCAGGGAGGAGGGAGGGCAGAGCCTGCTGTCCCCAGGAAACTGTACCAGGGGATACAGAGCCCCACAGAGAAACACAGAAATGCCACAGCACAATGTGGCTTAGCTCCCTGGATAGGGGAGAGCTTGTGAGGTCCAGGTGGAGGGCAAGCAGTTGGCTTCCTGGCTCCACTTTCCTGGATTTAGTGAGCACAAAACTGCTGCCTGCTGTGAAGCCCCAGGAAGACCCGCCCTGGGGCCAAGCAAATGGTGCATGAGGAGAGCCACCAGACCTCTGCGGGACCACTGTCCCCTCCACAGCCCCGGGAGAAAGGCTGGGCCAGAGGCGGTACCAGTTTCAGGCATCTGCTGTGCTGGCAGCTGAGCCCCAGGAGAAGGTTGTAGGCCAGGGGAGCATAGGCCTCTGTGCTGGAGATCCCCAGGGGCTGACAGGAACGGTGACCAAGTAGGGACATTTGCTCCAGCGGAAAGCACCAAGCTCCTGCACCCACACCCAAGGAGCTGGAGGTGTGCAGTAAGAAGGGGGTTCACGGGGTGGGGGCTTGCCACTGGGATGACCCTCACCACATATTAGCCCCAGGCCTAGCTATGTCCACGCTCTCTGGCCTGAGGCCTTCCAGCCCCAAGCGCCTCCTCCCTGTGCAGCCCTGGGCTCTGGCCATTCTGCCAANN
|
benign
| 322,436 |
Clinical classification of chromosome 22, position 19919617, gene TXNRD2 (thioredoxin reductase 2): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
TTTCAGGCATCTGCTGTGCTGGCAGCTGAGCCCCAGGAGAAGGTTGTAGGCCAGGGGAGCATAGGCCTCTGTGCTGGAGATCCCCAGGGGCTGACAGGAACGGTGACCAAGTAGGGACATTTGCTCCAGCGGAAAGCACCAAGCTCCTGCACCCACACCCAAGGAGCTGGAGGTGTGCAGTAAGAAGGGGGTTCACGGGGTGGGGGCTTGCCACTGGGATGACCCTCACCACATATTAGCCCCAGGCCTAGCTATGTCCACGCTCTCTGGCCTGAGGCCTTCCAGCCCCAAGCGCCTCCTCCCTGTGCAGCCCTGGGCTCTGGCCATTCTGCCAATGTGGCCTCACTCATTCCTTGGCAGCACCTCCAGGCTCTGCTCAGCAGCAAAGGGCAGTCTCCCCTTCCCCTACAGTCACTCCCATCTGCTCCTTGTCCTCATCCCCACCCATGAGCAGGACATGAACCCCCAGAGCCTGCCAGAGCATGCTCTGCACAGTAAGTAAGTGTGTGTCCAGGCACAGAACGCCCAAGAGAAGGCCCAGAGGGCGGCCCATTCCCGGAGAGAGCTTCAGTACCTGTCCTGAAGCTGGACACGGTGGCCCCAGTTCAAGGATTTCACGTGATTTTGAACAGCTTCTGCCATCTTCCTCCTGTGAAGATACGAAACAAAATGTAAAATCCACAACACAGGTGTTAGCTGCAGGGCCTCACGATGGACTATTAGATTCAAATGGTACATTCATAGAAATATCAAAAAACAAGAGTGCTTTTAAAGGTGGCAAAACGTGACATCCATCCCTACGTGCAACCGCCTGTCCCAGGCTCAGGGCTGCAGACCTTTGGACTCACAGAAAACAGGGGCTCTGACCCACGGCTCTCCAGATGCAGCTGCTCTGTGCCCCAAAGGCTACCCACTGCAGGCAGAGGCCTATCTGAGCCAATGTGGGTGTGGCTGGGCCACGTGGTCCCCTTCCCAGAAGAGCTCAGCTGAAGCGGCCTCCCACCCGCACTCCTGGCCTTGGAGATGCACTGTTCTTGGTGGGGCTGTGCTGTGCATGGCTGTAGCATCCCTGGGCTCCCCGCAAAGGGGAGCAAACCCTTCCCCAGTGACAACCAAAACTGTCTCCAGACATTCCCAAATGTCTGAGGCAGACAGCGCAGAGTCGCCCCTGGCTGAGAAACCCATCCTACGGCCCACTCCCCATGAGGGCTCATCGAGGATAAGCCTCCTCTTCCTCTTCCACCCAAGAGTAGAAGAAAAGCACTGGAATGCCACGGCGCCAGATCCTTACCAGTCATGCGGCACGGGCTGGGCCACCTCCCAGCCATAGTTGGGGGCATCTTGGATCAGGCCTCCCAGCAGTGCCGCCTGGTGCATCAGCTTCTTGGGGATGCAGCCCACGTTGACGCAGGTGCCGCCGAGGCCCCACCGGGTGCCTGGGACGTGGGAAGAGCACATTTGAATTTATGTTCAGGTGACTGCTGGAGGCTTCCCTGTTCTTCTAGAGTGTTTGGAATTCCTTAAAGTTGCTTTGTAACTCTAACACAGACCAGCTGACATGCCACACGAATCTGCTCTCTATAACTGTACTCGAAAATAAAAACAGTTGTTTTTACTTTTTAATATTTATTAATTTATTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAGTAGTGCAATCATAGCTCACTATAGCCTCGAACTCCTGGGCTCAAGTGATCAAGGCCTGCCTTGGCTTCCCAAAGTGCTGTGAGTACAGGCGTGAGCAACTGCACCTGGCCAGAGTTGTTTTCGATAATGGTCAAGAACTTTAAAGTAATGATGAGTGAAACAGGACACTGTCCAGAAACCATGGACAGCAGGGCTGAAGGACTTTGGTGTCAGCTGCCCTCTGTACAGGAACTGGGCCCACCTCCCACCTCCTTCCCCAGGACACCCGGCTCCCATAGGGTGCTGCCTACCTTGGGGAGAAGGTTCCACGTAGTCCACCACGGCCACCTTCCTTCCCAGCTGGGCGGCTGGAAGGATAAGGAGAGCAGCAGGTGAGCATGGGGAGCTGGCTCAGGACTCAAGAACAGGCACTCCTCAGGGCTTGTGAGGTCCAGAAGAGTGTGGGCAGGGCCTGGGCCTGCGGCTGCCCACACAGTGGCTGAGCTGCGCAATGCTAGGGACCCCTGATCTGCCTCTGCGCTCTGGCCTGCTGAGCTGCGCTGCCTGCTGGCTCTGCATTGAGTCTTCCAGTCTCTTTCTGGCACTGCCCACCCAGCTGCGCTGCCCACAGGCAGGAGCCCTCAGACCTCTCAGGGCCCGCAGCCTTTGTACCATCCACCCCTCACAGTGCTGGCATCAGCCCCACCTGCCCCTGCATGTTCACGTTCACCATAAGCCCAGTGCCCACCCAAGCATCCCTGGGTGGCATCCCCCAGGTAGCCACTCACCGGGAATGGCTCCTGACTCAGAGGCTCTCCCTTGCCCCTTCCCATCCCAGCCAGAGCCCCCTAGGTGGGCATTCGCTGCCTCACTCTCAGGACCAGGACACCAAAGCTCAGGAGAAGTGACGCAGCAGCCCCAGGGTGGACCAGCCCCAGAGCAGGAGCCGAGACCTGACTCCAAACCACACTTCCCGCTGCAGAGCCACCCAGTTGCCCTCCCAGCCAGCAGTGTGGCCACCCAGGGCCACAGGTTCTGGGGCCAACTCAGAAACCATTAGCCAGGACCGGGCATGGTGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCTGAGGAAGGTGTATCACTTGTGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACGTGTCTCCACTAAAAATAAAAATTAAAAAATTGGCCAGGTGTGGTGGTGCAAGCCTGTAGCCCCAGCTACCCGGGAGGCTGAGGCAAGAGAATCGTTTGAGCCCAAGAGGCAGAGGCTGCAGTGAGCAGAGATCACACCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAGAAAGAAAGAAAAAAAAAAAAAAACATTAGCTAGGGCTAATTTCAAGCTTCCATTTGCCCGGGCTTGGGCACTGCATCAGCAAACTTCAGGCCTTGGACTTGACTGCCTCCCAAGGCACACACAAATCTCATGAACCCTAAAATGCCAAGGAAAGTGTTTGATTCGTGGCTATTAGAAAGCAAGATTAGAACAAAGTTTTGTAAGAGTTCATTTTTAAAATCCATTTTGCTTGGCTGGGTGCAGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGGCAGGAGATCGAGAACATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAAATACAAAAACAAAATTAGTTGGGCGTGGTGGCAGGTGCCTATAGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGAACGGTGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGACTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGCTAATGTCCACAAGGCACAGTGGCTCACGCCTATAATCTCAACACTTTGGGAGGCCGCAGCAGGCAGATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAATATAGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGCGCCTGTGGTCCCAGCTGCTCGGGAGGCTAAGGTGGGGGGATGGCTTGAGCTTAGCAGGTGGAGGATGCAGTGAGTCAAGATTGTGCCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGCCAGTGTGCCAGTGTGTAACTCCCACATCTGACCACGATGGAGCAGCAGGGCCCAGATTTACCCTCCCCCTGAAGCAACCCAAAACCCAGGTAAAATGCATGAAACAACGGGCTTTCAGGTACTCCATGTCAGGTAACAAAGGACCTGAGAGAGAGGAAACAAACATGGTGAGCCCTGGGGAGTCTCCAGGACCCAGCACTGCAGGCTGGGGAAGATGGGGAGAATCCAG
|
TTTCAGGCATCTGCTGTGCTGGCAGCTGAGCCCCAGGAGAAGGTTGTAGGCCAGGGGAGCATAGGCCTCTGTGCTGGAGATCCCCAGGGGCTGACAGGAACGGTGACCAAGTAGGGACATTTGCTCCAGCGGAAAGCACCAAGCTCCTGCACCCACACCCAAGGAGCTGGAGGTGTGCAGTAAGAAGGGGGTTCACGGGGTGGGGGCTTGCCACTGGGATGACCCTCACCACATATTAGCCCCAGGCCTAGCTATGTCCACGCTCTCTGGCCTGAGGCCTTCCAGCCCCAAGCGCCTCCTCCCTGTGCAGCCCTGGGCTCTGGCCATTCTGCCAATGTGGCCTCACTCATTCCTTGGCAGCACCTCCAGGCTCTGCTCAGCAGCAAAGGGCAGTCTCCCCTTCCCCTACAGTCACTCCCATCTGCTCCTTGTCCTCATCCCCACCCATGAGCAGGACATGAACCCCCAGAGCCTGCCAGAGCATGCTCTGCACAGTAAGTAAGTGTGTGTCCAGGCACAGAACGCCCAAGAGAAGGCCCAGAGGGCGGCCCATTCCCGGAGAGAGCTTCAGTACCTGTCCTGAAGCTGGACACGGTGGCCCCAGTTCAAGGATTTCACGTGATTTTGAACAGCTTCTGCCATCTTCCTCCTGTGAAGATACGAAACAAAATGTAAAATCCACAACACAGGTGTTAGCTGCAGGGCCTCACGATGGACTATTAGATTCAAATGGTACATTCATAGAAATATCAAAAAACAAGAGTGCTTTTAAAGGTGGCAAAACGTGACATCCATCCCTACGTGCAACCGCCTGTCCCAGGCTCAGGGCTGCAGACCTTTGGACTCACAGAAAACAGGGGCTCTGACCCACGGCTCTCCAGATGCAGCTGCTCTGTGCCCCAAAGGCTACCCACTGCAGGCAGAGGCCTATCTGAGCCAATGTGGGTGTGGCTGGGCCACGTGGTCCCCTTCCCAGAAGAGCTCAGCTGAAGCGGCCTCCCACCCGCACTCCTGGCCTTGGAGATGCACTGTTCTTGGTGGGGCTGTGCTGTGCATGGCTGTAGCATCCCTGGGCTCCCCGCAAAGGGGAGCAAACCCTTCCCCAGTGACAACCAAAACTGTCTCCAGACATTCCCAAATGTCTGAGGCAGACAGCGCAGAGTCGCCCCTGGCTGAGAAACCCATCCTACGGCCCACTCCCCATGAGGGCTCATCGAGGATAAGCCTCCTCTTCCTCTTCCACCCAAGAGTAGAAGAAAAGCACTGGAATGCCACGGCGCCAGATCCTTACCAGTCATGCGGCACGGGCTGGGCCACCTCCCAGCCATAGTTGGGGGCATCTTGGATCAGGCCTCCCAGCAGTGCCGCCTGGTGCATCAGCTTCTTGGGGATGCAGCCCACGTTGACGCAGGTGCCGCCGAGGCCCCACCGGGTGCCTGGGACGTGGGAAGAGCACATTTGAATTTATGTTCAGGTGACTGCTGGAGGCTTCCCTGTTCTTCTAGAGTGTTTGGAATTCCTTAAAGTTGCTTTGTAACTCTAACACAGACCAGCTGACATGCCACACGAATCTGCTCTCTATAACTGTACTCGAAAATAAAAACAGTTGTTTTTACTTTTTAATATTTATTAATTTATTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAGTAGTGCAATCATAGCTCACTATAGCCTCGAACTCCTGGGCTCAAGTGATCAAGGCCTGCCTTGGCTTCCCAAAGTGCTGTGAGTACAGGCGTGAGCAACTGCACCTGGCCAGAGTTGTTTTCGATAATGGTCAAGAACTTTAAAGTAATGATGAGTGAAACAGGACACTGTCCAGAAACCATGGACAGCAGGGCTGAAGGACTTTGGTGTCAGCTGCCCTCTGTACAGGAACTGGGCCCACCTCCCACCTCCTTCCCCAGGACACCCGGCTCCCATAGGGTGCTGCCTACCTTGGGGAGAAGGTTCCACGTAGTCCACCACGGCCACCTTCCTTCCCAGCTGGGCGGCTGGAAGGATAAGGAGAGAGCAGGTGAGCATGGGGAGCTGGCTCAGGACTCAAGAACAGGCACTCCTCAGGGCTTGTGAGGTCCAGAAGAGTGTGGGCAGGGCCTGGGCCTGCGGCTGCCCACACAGTGGCTGAGCTGCGCAATGCTAGGGACCCCTGATCTGCCTCTGCGCTCTGGCCTGCTGAGCTGCGCTGCCTGCTGGCTCTGCATTGAGTCTTCCAGTCTCTTTCTGGCACTGCCCACCCAGCTGCGCTGCCCACAGGCAGGAGCCCTCAGACCTCTCAGGGCCCGCAGCCTTTGTACCATCCACCCCTCACAGTGCTGGCATCAGCCCCACCTGCCCCTGCATGTTCACGTTCACCATAAGCCCAGTGCCCACCCAAGCATCCCTGGGTGGCATCCCCCAGGTAGCCACTCACCGGGAATGGCTCCTGACTCAGAGGCTCTCCCTTGCCCCTTCCCATCCCAGCCAGAGCCCCCTAGGTGGGCATTCGCTGCCTCACTCTCAGGACCAGGACACCAAAGCTCAGGAGAAGTGACGCAGCAGCCCCAGGGTGGACCAGCCCCAGAGCAGGAGCCGAGACCTGACTCCAAACCACACTTCCCGCTGCAGAGCCACCCAGTTGCCCTCCCAGCCAGCAGTGTGGCCACCCAGGGCCACAGGTTCTGGGGCCAACTCAGAAACCATTAGCCAGGACCGGGCATGGTGGCTCACACCTGTTATCCCAGCACTTTGGGAGGCTGAGGAAGGTGTATCACTTGTGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACGTGTCTCCACTAAAAATAAAAATTAAAAAATTGGCCAGGTGTGGTGGTGCAAGCCTGTAGCCCCAGCTACCCGGGAGGCTGAGGCAAGAGAATCGTTTGAGCCCAAGAGGCAGAGGCTGCAGTGAGCAGAGATCACACCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAGAAAGAAAGAAAAAAAAAAAAAAACATTAGCTAGGGCTAATTTCAAGCTTCCATTTGCCCGGGCTTGGGCACTGCATCAGCAAACTTCAGGCCTTGGACTTGACTGCCTCCCAAGGCACACACAAATCTCATGAACCCTAAAATGCCAAGGAAAGTGTTTGATTCGTGGCTATTAGAAAGCAAGATTAGAACAAAGTTTTGTAAGAGTTCATTTTTAAAATCCATTTTGCTTGGCTGGGTGCAGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGGCAGGAGATCGAGAACATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAAATACAAAAACAAAATTAGTTGGGCGTGGTGGCAGGTGCCTATAGTCCCAGTTACTCGGGAGGCTGAGGCGGGAGAACGGTGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGACTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGCTAATGTCCACAAGGCACAGTGGCTCACGCCTATAATCTCAACACTTTGGGAGGCCGCAGCAGGCAGATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAATATAGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGCGCCTGTGGTCCCAGCTGCTCGGGAGGCTAAGGTGGGGGGATGGCTTGAGCTTAGCAGGTGGAGGATGCAGTGAGTCAAGATTGTGCCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGCCAGTGTGCCAGTGTGTAACTCCCACATCTGACCACGATGGAGCAGCAGGGCCCAGATTTACCCTCCCCCTGAAGCAACCCAAAACCCAGGTAAAATGCATGAAACAACGGGCTTTCAGGTACTCCATGTCAGGTAACAAAGGACCTGAGAGAGAGGAAACAAACATGGTGAGCCCTGGGGAGTCTCCAGGACCCAGCACTGCAGGCTGGGGAAGATGGGGAGAATCCAGN
|
benign
| 322,466 |
Chromosome 22, position 19941683, gene TXNRD2: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
GGAGAAGGCACTGCATTTAATGTTACTATGGGTTATAAATACCCTCCTCTGTGCCTTGGACATGCACCTGGTTGTATCCATCTAGAAGCTCAAGTCTGGGCTGCTTGTCTTCCAGAGAGATTAGCTATAGGGAAATGGGGACATTTGGTCTCTGGCCTCTCCCTTTCTCCTTTAAGACAAATAAAAAGAGGAGTAATAGGAGATACCCCATACTTTCAATATAAACCTGTAGGAAAACCATATCCTAAAAATTTTGAGGGCCCATCTAAAACTTCAATTTGGGAATGATTGTGTTAACTCACATGCAGTAGTATTAAAAAATGACTCGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAATACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCAGATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACTGTACTCCAGCTTGGGCGACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAACCCCAAAAAAACAACTCATATGGTTTAGTAACAGACTGGGCACGAAAGGGCTATTTAAAAAACAGTTGCTCCTCTGGCGGAAAGGAATGCCTGGAGACTACTTATTTTATTTCTTACTGGGAGGACCAGGATCATCATCCTATTTTGCATAGAAGGTTCAGTTTGTTCTTTCCCTTAAAATAGGAAGATAAGGGCATTATCCCCCTAAGTCTCGTATGATATTCCCCATTCTGAGTCCAGAATACCTAGAAATTTGGAATTTGGCTATTGCCGTGTCTGGACTGTGAGTATGGGAAGGGGAAGCTTTTCTGTCTGTTGTCCCCACTACCGCCCCTCACATCCGTGATTCTGAACCCCATGATAAATGCCCTTTGAACCTTTTTCCTCCTTTTGATGCCGAATCCCCTTTTATGGGACTCCGCCAGCACGGGTGCATTTAACCTTCCTGAGCTTGCCCACCTGACGCATGCAGCCAAGAAGCTTTGAAAGATGGAGTGCCCTGGCTGAGGGTTCCAGGTCTCAGCAAGGCCACGAGGTGGTGACTGCCTCCCAGAACTCTGTTGGGCCACCCTCCGTCCTGGAGACCCCCAAAACCTCCATAGCACCAACTCTGCCCATTCACACACACAGTCAGCCCTCCCTCCCGAGTCCACCGCGGGCAGAGGGCCAGCCACCATGCCTCCCATAGCCGCCATCCCTGGGAAGGAGCCCTGACCCCGTCCTTACACCCCTCTACACTCACTGCCTGTGGGGAGAGCTGCTCGCTGTCACAAGCATCCAGGGGGCTGGGTCGAGGGGCCCCCTGCATGGTGGGGGACCATGTTGTCGTGCATGGAATGAAACTGGCCACACATAACAGATATGGTGGCGCTCTGGTCGGATCTAGGGGAGTCTGTCCTACAGGATGAGGCTTGAACTGTCCTGAGTGACCAGACACCCAGCCTCTGCTTCGAGTGCTCAGTTATGATTATTGTCCTGATTTAGTTAACTGTTCTTCAGGGGCTCCAGGAGGACGAGTGTGTATCCTCCCATTGCTCTGTGCAGCCTCTAACCTCTAGAGTCTAGGGGTCTGGGGAGAAGTTGGGAAGTCTGGCCAGTGGGGCCGGTGCCTGGTGACCTCGGGAGGTGGGATATCATCATCTTCAGAACTGTAGTTGTTACTGGGATACCAGCTCTGGGAGACCACAGGTGCAGTCAGCACAGCAGGACCTTAGACAAGGCACCCAGCCCCAGTTTCCCCACCTGGGAAGGGGGCTACTTGTGGCTAGAAGCAGCCCGGACTCCTGAGCAAGACTAGACCAAGAGGCCGGTATGTGGACACCCCCGCGTGGGCACCCCCACGGGGACACCCTGGCCACCGCCGCGCGGACACCCTCACGAGGACACCCCGGCCGCGCGGACACCTACCGCGGGGACGCCCCGACCCCATCCTACCTGCTGCGCCCCGCGCCGCGCCCCGCACCCCGCCCGCCACGGCCTGCGTCCGCCACCGGAAGCGCCCTCCTAATCCCCGCAGCGCCACCGCCATTGCCGCCATCGTCGTGGGGCTTCTGGGGCAGCTAGGGCTGCCCGCCGCGCTGCCTGCGCCGGACCGGGGCGGGTCCAGTCCCGGGCGGGCCGTCGCGGGAGAGGTGAGAGCGCTGGCTAGACCGGGGCCGAATGCGGCCGGATTCGGGGCGGGGGCCTTCAGACCTAGGGTGGAACACTGGGATAGGGTGTGGGGAATTCGGACCGCTGTGAAGTGATCTGACGTTGGGTGGGAGTCTCCGGACTTGGGGTGGGGAATCTGGATGGGAACTGGGGAATTCGGACCTTGGGTGGGGATCTTTGGACCGGGGTGGGGTCCCCAGACTCCTTGTGGAAAGCTGAGGTTGAAGATCTGTGCTGTGATGAGGGGCTCCAGATAGCGGTGAGAGATCCCGCTTCAAGACTGGGTTGGGGGTCCAGACCAGGAGGATAAGCCTCTCCCTGGAGTAGGGCTTGACCTGGTGAGGGTGTGGTAGAGTCACAGGGGAGGGTCCCACTTGGTCCTTGGGCTGGGATCAGACTCTCAGAGCTGGAGAGTTGCAGGAGGCCTGGGGGAGGGTCTGTGGAGCCCCAGACTCAGAGGGCCTTGGTGACTTCTCCAACAGGCTCCCTGTTGGAGGCCTTGGGGTACCCCAGGGCCTTTCCCTGCAAGAGAGAGGCTGCTCCACCAGGAAGGGGCCCAGGACTCCCCAGGGTCGGGGGGATGTGTGGTGTGCAGGACCACGTGGGAATGTTAGAGAAAGGGGAAGTCACTCCGGGCCTGCCCTGCTAACAGACCTGCTTTTTGGATTTTTCCAGCCAGGGATTTTTGTGTCCTGTTGCTTTTTATTGTTTAAAGTGACCCTCCAAGCCTGAGGGACCGTAGGAGCTGCCCTGCAGAGCCCAGTGAGACACTAGTTAATGCAGAAAAAACAGATTTTACTTGGTAACTACTGACAACATGAGAAAAAGCTGGCTCCATGCTGATTTGTCTAGATGTGCCTGGAGTTTAAAGGGAGAGTGAGGGAGTGGGAAGGGGTGGGGACTCAGTAGAGTTAGGGAAACAGAAAATCACCAAAACTGGGAAGGGAGGGTTGGCCCCTGTGAAACCAACTGATCTGGGTTTGCCACTGGGGCTTACCGAAGTCAGGCCCCCAACCTCCCACAGAGACTGGGAGACAGGGGCCCCATCCTCAGGTGTTGGCTGGAACACACAGGAAATTCTTGTGGCAGCCTTGAACTTCTCAGGCAGGCACTTTAGAGGGGGCTAGGATCGTTCTGGGAATGTGGCCTTGAGCTGTTAGGAGCTATGTTAGTGTTCGTTCCAGCCTAGATAGGCCAGGGTGAGGCCCAGTGGAGAAGGGGACTCTAAGGAGCCTGGCTGGAGTGTGGGGAGGGAGGGTCTTTGTCAGCACTCCCCCTGTGCAAGAAGAGCAGAGACCTGCTTCTTTCCTCTCAACAGTCCCCGTCCATTTTCTGTTCTGTGTTGTGTTCATAAACTACCAGCGGGACCATCTGTTGAGACTTGGTAGCAAAGGATTTTTGCTGGATGATGCAAGCAGTCAAGCATTTAATGAGGAAACAAAAATAACAGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGATCACTTGAGGCCAGGAGTTTGAAACAAGCCTGGGCAACATAAAGACCCCATCTCTACAAAAAATTTAAAAATTAGCCCGGCGTGGTGGCATGGGCCTATAGTTCCAGCTACTTGGGAGGCTGAGGTGAAAAGATCGTTTGAGCCTGGGAGGCGGAGGCTGCCATGAGCCATGATCTTGCCTCTATACTCCAGCCTGAGCAACAGAGAGCCCCTATCTTTAAAAAAAAAAAATAATAATAAAATAAAAAAATAAAAAGAAAGAAAGAAATAAAAACAAAGATGAATGGAGCTGTTGATAAACCCAGTTTT
|
GGAGAAGGCACTGCATTTAATGTTACTATGGGTTATAAATACCCTCCTCTGTGCCTTGGACATGCACCTGGTTGTATCCATCTAGAAGCTCAAGTCTGGGCTGCTTGTCTTCCAGAGAGATTAGCTATAGGGAAATGGGGACATTTGGTCTCTGGCCTCTCCCTTTCTCCTTTAAGACAAATAAAAAGAGGAGTAATAGGAGATACCCCATACTTTCAATATAAACCTGTAGGAAAACCATATCCTAAAAATTTTGAGGGCCCATCTAAAACTTCAATTTGGGAATGATTGTGTTAACTCACATGCAGTAGTATTAAAAAATGACTCGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAATACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCAGATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCACCACTGTACTCCAGCTTGGGCGACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAACCCCAAAAAAACAACTCATATGGTTTAGTAACAGACTGGGCACGAAAGGGCTATTTAAAAAACAGTTGCTCCTCTGGCGGAAAGGAATGCCTGGAGACTACTTATTTTATTTCTTACTGGGAGGACCAGGATCATCATCCTATTTTGCATAGAAGGTTCAGTTTGTTCTTTCCCTTAAAATAGGAAGATAAGGGCATTATCCCCCTAAGTCTCGTATGATATTCCCCATTCTGAGTCCAGAATACCTAGAAATTTGGAATTTGGCTATTGCCGTGTCTGGACTGTGAGTATGGGAAGGGGAAGCTTTTCTGTCTGTTGTCCCCACTACCGCCCCTCACATCCGTGATTCTGAACCCCATGATAAATGCCCTTTGAACCTTTTTCCTCCTTTTGATGCCGAATCCCCTTTTATGGGACTCCGCCAGCACGGGTGCATTTAACCTTCCTGAGCTTGCCCACCTGACGCATGCAGCCAAGAAGCTTTGAAAGATGGAGTGCCCTGGCTGAGGGTTCCAGGTCTCAGCAAGGCCACGAGGTGGTGACTGCCTCCCAGAACTCTGTTGGGCCACCCTCCGTCCTGGAGACCCCCAAAACCTCCATAGCACCAACTCTGCCCATTCACACACACAGTCAGCCCTCCCTCCCGAGTCCACCGCGGGCAGAGGGCCAGCCACCATGCCTCCCATAGCCGCCATCCCTGGGAAGGAGCCCTGACCCCGTCCTTACACCCCTCTACACTCACTGCCTGTGGGGAGAGCTGCTCGCTGTCACAAGCATCCAGGGGGCTGGGTCGAGGGGCCCCCTGCATGGTGGGGGACCATGTTGTCGTGCATGGAATGAAACTGGCCACACATAACAGATATGGTGGCGCTCTGGTCGGATCTAGGGGAGTCTGTCCTACAGGATGAGGCTTGAACTGTCCTGAGTGACCAGACACCCAGCCTCTGCTTCGAGTGCTCAGTTATGATTATTGTCCTGATTTAGTTAACTGTTCTTCAGGGGCTCCAGGAGGACGAGTGTGTATCCTCCCATTGCTCTGTGCAGCCTCTAACCTCTAGAGTCTAGGGGTCTGGGGAGAAGTTGGGAAGTCTGGCCAGTGGGGCCGGTGCCTGGTGACCTCGGGAGGTGGGATATCATCATCTTCAGAACTGTAGTTGTTACTGGGATACCAGCTCTGGGAGACCACAGGTGCAGTCAGCACAGCAGGACCTTAGACAAGGCACCCAGCCCCAGTTTCCCCACCTGGGAAGGGGGCTACTTGTGGCTAGAAGCAGCCCGGACTCCTGAGCAAGACTAGACCAAGAGGCCGGTATGTGGACACCCCCGCGTGGGCACCCCCACGGGGACACCCTGGCCACCGCCGCGCGGACACCCTCACGAGGACACCCCGGCCGCGCGGACACCTACCGCGGGGACGCCCCCGACCCCATCCTACCTGCTGCGCCCCGCGCCGCGCCCCGCACCCCGCCCGCCACGGCCTGCGTCCGCCACCGGAAGCGCCCTCCTAATCCCCGCAGCGCCACCGCCATTGCCGCCATCGTCGTGGGGCTTCTGGGGCAGCTAGGGCTGCCCGCCGCGCTGCCTGCGCCGGACCGGGGCGGGTCCAGTCCCGGGCGGGCCGTCGCGGGAGAGGTGAGAGCGCTGGCTAGACCGGGGCCGAATGCGGCCGGATTCGGGGCGGGGGCCTTCAGACCTAGGGTGGAACACTGGGATAGGGTGTGGGGAATTCGGACCGCTGTGAAGTGATCTGACGTTGGGTGGGAGTCTCCGGACTTGGGGTGGGGAATCTGGATGGGAACTGGGGAATTCGGACCTTGGGTGGGGATCTTTGGACCGGGGTGGGGTCCCCAGACTCCTTGTGGAAAGCTGAGGTTGAAGATCTGTGCTGTGATGAGGGGCTCCAGATAGCGGTGAGAGATCCCGCTTCAAGACTGGGTTGGGGGTCCAGACCAGGAGGATAAGCCTCTCCCTGGAGTAGGGCTTGACCTGGTGAGGGTGTGGTAGAGTCACAGGGGAGGGTCCCACTTGGTCCTTGGGCTGGGATCAGACTCTCAGAGCTGGAGAGTTGCAGGAGGCCTGGGGGAGGGTCTGTGGAGCCCCAGACTCAGAGGGCCTTGGTGACTTCTCCAACAGGCTCCCTGTTGGAGGCCTTGGGGTACCCCAGGGCCTTTCCCTGCAAGAGAGAGGCTGCTCCACCAGGAAGGGGCCCAGGACTCCCCAGGGTCGGGGGGATGTGTGGTGTGCAGGACCACGTGGGAATGTTAGAGAAAGGGGAAGTCACTCCGGGCCTGCCCTGCTAACAGACCTGCTTTTTGGATTTTTCCAGCCAGGGATTTTTGTGTCCTGTTGCTTTTTATTGTTTAAAGTGACCCTCCAAGCCTGAGGGACCGTAGGAGCTGCCCTGCAGAGCCCAGTGAGACACTAGTTAATGCAGAAAAAACAGATTTTACTTGGTAACTACTGACAACATGAGAAAAAGCTGGCTCCATGCTGATTTGTCTAGATGTGCCTGGAGTTTAAAGGGAGAGTGAGGGAGTGGGAAGGGGTGGGGACTCAGTAGAGTTAGGGAAACAGAAAATCACCAAAACTGGGAAGGGAGGGTTGGCCCCTGTGAAACCAACTGATCTGGGTTTGCCACTGGGGCTTACCGAAGTCAGGCCCCCAACCTCCCACAGAGACTGGGAGACAGGGGCCCCATCCTCAGGTGTTGGCTGGAACACACAGGAAATTCTTGTGGCAGCCTTGAACTTCTCAGGCAGGCACTTTAGAGGGGGCTAGGATCGTTCTGGGAATGTGGCCTTGAGCTGTTAGGAGCTATGTTAGTGTTCGTTCCAGCCTAGATAGGCCAGGGTGAGGCCCAGTGGAGAAGGGGACTCTAAGGAGCCTGGCTGGAGTGTGGGGAGGGAGGGTCTTTGTCAGCACTCCCCCTGTGCAAGAAGAGCAGAGACCTGCTTCTTTCCTCTCAACAGTCCCCGTCCATTTTCTGTTCTGTGTTGTGTTCATAAACTACCAGCGGGACCATCTGTTGAGACTTGGTAGCAAAGGATTTTTGCTGGATGATGCAAGCAGTCAAGCATTTAATGAGGAAACAAAAATAACAGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTTGGAGGCCGAGGAGGATCACTTGAGGCCAGGAGTTTGAAACAAGCCTGGGCAACATAAAGACCCCATCTCTACAAAAAATTTAAAAATTAGCCCGGCGTGGTGGCATGGGCCTATAGTTCCAGCTACTTGGGAGGCTGAGGTGAAAAGATCGTTTGAGCCTGGGAGGCGGAGGCTGCCATGAGCCATGATCTTGCCTCTATACTCCAGCCTGAGCAACAGAGAGCCCCTATCTTTAAAAAAAAAAAATAATAATAAAATAAAAAAATAAAAAGAAAGAAAGAAATAAAAACAAAGATGAATGGAGCTGTTGATAAACCCAGTTT
|
benign
| 322,474 |
A genetic variant at chromosome 22, position 19968739, affecting gene ARVCF—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
TCAACCTCCCAAAGTGCTGGGAGTACAGGTGTGTGCTTGGTCTGAGGCTCCAACTTTTTGTTGTTGTTTCTCGAGACAGTCTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCCCTGCAACCTCTGTGAGGCTCCAACTCTTGAAGGGAGGAGAGTCTAAGGAGGGTGGGCCAGATGAAAACCACCTCAGCATAGTGTCACCTGCTCCTCTGACACTGTCGCTTCTCCACGGCATTAGATTTTCAGTCCTGCTCAGACGCTGATGCATGTTTAGCCAGTTCTCCAGGTGGTCTGAGTAGCTGGTAGGAGGCTTGCAGTGTCGGGCGACAGGCAGGACAGGTGCTGCCTTCTTTCCCCTCTTGACCAGTTTCGTAAAGGAGTGGGCCCCTGGCAGCCTCCAAAGGTGACCCATGCTCCTTTCTGCCCTTCCCTCCTTCTTTCCTGTTTAACTCGTGCAGGTGCAGTGGTCTGGTGTCTTTCAGTCCGCTGACGTCTTCTGTATCCCTGATGACCAGATTGGGCTCCTGAGTCCCCTGGCGCAACCCGAGAAGTCCAGGAGCCCAGGCCCCTCACTCATGCATTCCCTGGCCCAGACTGGAAGGCAGCCGCCCTGCTCAAGGCCTAGGCCATTGTCCTCCTCCCGGGTGGCGCTTTGTTCTACGTCTTTTCAGCTGACATTGCTAGGACATTTTTTTTTTTTTCTAAATGAAAACACATCATGATTCATGGTGGTACTTCCTGCTCAACTCCGGACCTTGGGGCTGTCCCCTGACCTCACTGACCTTGCAGCCGTGTGGTGTCCATACTGTCACATGAAAGCCCCCTGCTTTCTCTGCAGCATACAGGCTGGAAACGACCGCCACCCACCACCAGGACAGCTGCAAGCCCTGTGGGACTCTCCAGGCCCATCCCAGAGGCATGTGGGGTCGGATACCAGTGTTTCAAGGCACCTGCCTGCAAATTGATTTTATTATACTTTAGATGTTTGAGATTGCTTGTTAACTTTTGTTTGGTGACTAAGTCAAATTTCCAAGACAAGGTGACTGGGGTGTCCCTTGCCCTGGTAGGTCCTTCCTCCCCATAGGCAAACACTTCCTCTCAAGGTTTCTTGTTTATGTGATGTAAGCAAACCCTTTTCTGATAGCATAGATAGGCAAGCATCCTATGAGGTTTCTCCCGATAGTGGACCCCACGGGCCATGCCCTATGGCTGCGTGTCCAGTAACAACTCCTTCCTTCTGCACAGAACCCAGGCAGAGGAACTCTGTGTCCTCCCAGGGCCCAGGCACTGGTGAAGATGGGGGGTCTGCAAATGCAGGAGCTTGGGGATGTCCAGAACTGACCCCAAGGGGCAGGCTTGTTGATGGGAGGTCTGCCCCACCTCAGCCCTGCAGGGTCACCCTGGTCAGGCCAATATTGTCTCCAGGGACCATACCAGCAACCCCTCTCCTTGGGTGCCTCTCCCTCATAGGCCTGAGTTCCTGGCACTGGGTGTTGAGGGCCCCATTGTTTCCACTCACCCAGCTAGCATTTATTGAGCACCTACTGTGTGCCACATGCTGTTCTAAGGGATGGATACTCCTGAGATGGATACAGGAGTTGATGAGAGAAAGGTCCCTGTCCTCACGGGGCCCATGTTCTGAAGGTGGCACCCAAGTCTTGTACAGTCCTTTCCTGCAGGAGTCACGCTGGGCAGAAAGTGGAAACCTGGCCCCAGGGGCTAGGCACAGGCGTGGTGCCGTGGCCTAGTGAGGAGCACCCATCCTGGTTTGGGGCAGGTTCTCTGGGCACCTCTGACCCTCACCTCCCCCACCCCCCGGTCTGTTTGCAGGAATGTGGCCTGCTGCGGAAGGGGACAGTGCTACTGGCTGACAACGTGATCTGCCCAGGTGCGCCAGACTTCCTAGCACACGTGCGCGGGAGCAGCTGCTTTGAGTGCACACACTACCAATCGTTCCTGGAATACAGGGAGGTGGTGGACGGCCTGGAGAAGGCCATCTACAAGGGCCCAGGCAGCGAAGCAGGGCCCTGACTGCCCCCCCGGCCCCCCTCTCGGGCTCTCTCACCCAGCCTGGTACTGAAGGTGCCAGACGTGCTCCTGCTGACCTTCTGCGGCTCCGGGCTGTGTCCTAAATGCAAAGCACACCTCGGCCGAGGCCTGCGCCCTGACATGCTAACCTCTCTGAACTGCAACACTGGATTGTTCTTTTTTAAGACTCAATCATGACTTCTTTACTAACACTGGCTAGCTATATTATCTTATATACTAATATCATGTTTTAAAAATATAAAATAGAAATTAAGAATCTAAATATTTAGATATAACTCGACTTAGTACATCCTTCTCAACTGCCATTCCCCTGCTGCCCTTGACTTGGGCACCAAACATTCAAAGCTCCCCTTGACGGACGCTAACGCTAAGGGCGGGGCCCCTAGCTGGCTGGGTTCTGGGTGGCACGCCTGGCCCACTGGCCTCCCAGCCACAGTGGTGCAGAGGTCAGCCCTCCTGCAGCTAGGCCAGGGGCACCTGTTAGCCCCATGGGGACGACTGCCGGCCTGGGAAACGAAGAGGAGTCAGCCAGCATTCACACCTTTCTGACCAAGCAGGCGCTGGGGACAGGTGGACCCCGCAGCAGCACCAGCCCCTCTGGGCCCCATGTGGCACAGAGTGGAAGCATCTCCTTCCCTACTCCCCACTGGGCCTTGCTTACAGAAGAGGCAATGGCTCAGACCAGCTCCCGCATCCCTGTAGTTGCCTCCCTGGCCCATGAGTGAGGATGCAGTGCTGGTTTCTGCCCACCTACACCTAGAGCTGTCCCCATCTCCTCCAAGGGGTCAGACTGCTAGCCACCTCAGAGGCTCCAAGGGCCCAGTTCCCAGGCCCAGGACAGGAATCAACCCTGTGCTAGCTGAGTTCACCTGCACCGAGACCAGCCCCTAGCCAAGATTCTACTCCTGGGCTCAAGGCCTGGCTAGCCCCCAGCCAGCCCACTCCTATGGATAGACAGACCAGTGAGCCCAAGTGGACAAGTTTGGGGCCACCCAGGGACCAGAAACAGAGCCTCTGCAGGACACAGCAGATGGGCACCTGGGACCACCTCCACCCAGGGCCCTGCCCCAGACGCGCAGAGGCCCGACACAAGGGAGAAGCCAGCCACTTGTGCCAGACCTGAGTGGCAGAAAGCAAAAAGTTCCTTTGCTGCTTTAATTTTTAAATTTTCTTACAAAAATTTAGGTGTTTACCAATAGTCTTATTTTGGCTTATTTTTAATGCTTTTTCTCAGTGTTTTTCTTCTGTTTCTGAGTCACGAACAGCAGGCACTGAAAGCAGTCCCCCAGCCACTGCCGAAGGTCAGTCCCGGAGGTGCTGCCCAGGCTCCAGGCAGATGCGGCAGCCCCGGCCCCAGCCAGCATGGGCTGGAGAAAGGCTCTCTACTGCACAGGGGCCTCACGTGACTGCAGGGCTCTGGGGAGGTGGGGCACCTGTAGCCTGACCCCCACCTTGCTGCTTCCAAAGCTTCCTTGCCCAGGGCTGGGCCTTGTGGGGCACCCCCCACACCGTGGTCTGCCTGCCTGCAGGGTGCCCAGGGAGACCCTCCGCCTTTAGAAGTCCAAGTTCTTTCCCAGCCCCCTCCCTGCCTAGCTGCCTGCCCCTGGCGCCAGACCTGGCCCGCACCACTGGGGCACTGTGTTCCCAGGGGCACCCTCCTATCCCACCAGCCCCAAAGCCCAGCCAGGCACCCTTCCCTGCCACCTCCCTGGGCCCTGCCCCAGCAGCCCAGTCGGCCTCCTCGGGCCTTCTGTCACTCGCTCACACACAGCACCATGTCAGTAAACAGCTAACTCAGGCCTAGGGAGTTAGGTAGGATGGGGGGAGTGGGGTGGGGGGGCAGGAGGGTGTCCCCAAAGTCAGGCTTGGCTGGGGCGAGGCGCTGCCAACCCCTGCCGCCAGGGGGCTCCAAGCTCCACGGCACGATCTGCTCAGGGTGGCCCTTCTTCCACGATCCAAGCCCTAAGAACAAGAGGCTGGGCCTGGGCCCTGCAGAGGGAAAGGGGATGGTGGACGCTGCAGCCACTGAGTG
|
TCAACCTCCCAAAGTGCTGGGAGTACAGGTGTGTGCTTGGTCTGAGGCTCCAACTTTTTGTTGTTGTTTCTCGAGACAGTCTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCCCTGCAACCTCTGTGAGGCTCCAACTCTTGAAGGGAGGAGAGTCTAAGGAGGGTGGGCCAGATGAAAACCACCTCAGCATAGTGTCACCTGCTCCTCTGACACTGTCGCTTCTCCACGGCATTAGATTTTCAGTCCTGCTCAGACGCTGATGCATGTTTAGCCAGTTCTCCAGGTGGTCTGAGTAGCTGGTAGGAGGCTTGCAGTGTCGGGCGACAGGCAGGACAGGTGCTGCCTTCTTTCCCCTCTTGACCAGTTTCGTAAAGGAGTGGGCCCCTGGCAGCCTCCAAAGGTGACCCATGCTCCTTTCTGCCCTTCCCTCCTTCTTTCCTGTTTAACTCGTGCAGGTGCAGTGGTCTGGTGTCTTTCAGTCCGCTGACGTCTTCTGTATCCCTGATGACCAGATTGGGCTCCTGAGTCCCCTGGCGCAACCCGAGAAGTCCAGGAGCCCAGGCCCCTCACTCATGCATTCCCTGGCCCAGACTGGAAGGCAGCCGCCCTGCTCAAGGCCTAGGCCATTGTCCTCCTCCCGGGTGGCGCTTTGTTCTACGTCTTTTCAGCTGACATTGCTAGGACATTTTTTTTTTTTTCTAAATGAAAACACATCATGATTCATGGTGGTACTTCCTGCTCAACTCCGGACCTTGGGGCTGTCCCCTGACCTCACTGACCTTGCAGCCGTGTGGTGTCCATACTGTCACATGAAAGCCCCCTGCTTTCTCTGCAGCATACAGGCTGGAAACGACCGCCACCCACCACCAGGACAGCTGCAAGCCCTGTGGGACTCTCCAGGCCCATCCCAGAGGCATGTGGGGTCGGATACCAGTGTTTCAAGGCACCTGCCTGCAAATTGATTTTATTATACTTTAGATGTTTGAGATTGCTTGTTAACTTTTGTTTGGTGACTAAGTCAAATTTCCAAGACAAGGTGACTGGGGTGTCCCTTGCCCTGGTAGGTCCTTCCTCCCCATAGGCAAACACTTCCTCTCAAGGTTTCTTGTTTATGTGATGTAAGCAAACCCTTTTCTGATAGCATAGATAGGCAAGCATCCTATGAGGTTTCTCCCGATAGTGGACCCCACGGGCCATGCCCTATGGCTGCGTGTCCAGTAACAACTCCTTCCTTCTGCACAGAACCCAGGCAGAGGAACTCTGTGTCCTCCCAGGGCCCAGGCACTGGTGAAGATGGGGGGTCTGCAAATGCAGGAGCTTGGGGATGTCCAGAACTGACCCCAAGGGGCAGGCTTGTTGATGGGAGGTCTGCCCCACCTCAGCCCTGCAGGGTCACCCTGGTCAGGCCAATATTGTCTCCAGGGACCATACCAGCAACCCCTCTCCTTGGGTGCCTCTCCCTCATAGGCCTGAGTTCCTGGCACTGGGTGTTGAGGGCCCCATTGTTTCCACTCACCCAGCTAGCATTTATTGAGCACCTACTGTGTGCCACATGCTGTTCTAAGGGATGGATACTCCTGAGATGGATACAGGAGTTGATGAGAGAAAGGTCCCTGTCCTCACGGGGCCCATGTTCTGAAGGTGGCACCCAAGTCTTGTACAGTCCTTTCCTGCAGGAGTCACGCTGGGCAGAAAGTGGAAACCTGGCCCCAGGGGCTAGGCACAGGCGTGGTGCCGTGGCCTAGTGAGGAGCACCCATCCTGGTTTGGGGCAGGTTCTCTGGGCACCTCTGACCCTCACCTCCCCCACCCCCCGGTCTGTTTGCAGGAATGTGGCCTGCTGCGGAAGGGGACAGTGCTACTGGCTGACAACGTGATCTGCCCAGGTGCGCCAGACTTCCTAGCACACGTGCGCGGGAGCAGCTGCTTTGAGTGCACACACTACCAATCGTTCCTGGAATACAGGGAGGTGGTGGACGGCCTGGAGAAGGCCATCTACAAGGGCCCAGGCAGCGAAGCAGGGCCCTGACTGCCCCCCCCGGCCCCCCTCTCGGGCTCTCTCACCCAGCCTGGTACTGAAGGTGCCAGACGTGCTCCTGCTGACCTTCTGCGGCTCCGGGCTGTGTCCTAAATGCAAAGCACACCTCGGCCGAGGCCTGCGCCCTGACATGCTAACCTCTCTGAACTGCAACACTGGATTGTTCTTTTTTAAGACTCAATCATGACTTCTTTACTAACACTGGCTAGCTATATTATCTTATATACTAATATCATGTTTTAAAAATATAAAATAGAAATTAAGAATCTAAATATTTAGATATAACTCGACTTAGTACATCCTTCTCAACTGCCATTCCCCTGCTGCCCTTGACTTGGGCACCAAACATTCAAAGCTCCCCTTGACGGACGCTAACGCTAAGGGCGGGGCCCCTAGCTGGCTGGGTTCTGGGTGGCACGCCTGGCCCACTGGCCTCCCAGCCACAGTGGTGCAGAGGTCAGCCCTCCTGCAGCTAGGCCAGGGGCACCTGTTAGCCCCATGGGGACGACTGCCGGCCTGGGAAACGAAGAGGAGTCAGCCAGCATTCACACCTTTCTGACCAAGCAGGCGCTGGGGACAGGTGGACCCCGCAGCAGCACCAGCCCCTCTGGGCCCCATGTGGCACAGAGTGGAAGCATCTCCTTCCCTACTCCCCACTGGGCCTTGCTTACAGAAGAGGCAATGGCTCAGACCAGCTCCCGCATCCCTGTAGTTGCCTCCCTGGCCCATGAGTGAGGATGCAGTGCTGGTTTCTGCCCACCTACACCTAGAGCTGTCCCCATCTCCTCCAAGGGGTCAGACTGCTAGCCACCTCAGAGGCTCCAAGGGCCCAGTTCCCAGGCCCAGGACAGGAATCAACCCTGTGCTAGCTGAGTTCACCTGCACCGAGACCAGCCCCTAGCCAAGATTCTACTCCTGGGCTCAAGGCCTGGCTAGCCCCCAGCCAGCCCACTCCTATGGATAGACAGACCAGTGAGCCCAAGTGGACAAGTTTGGGGCCACCCAGGGACCAGAAACAGAGCCTCTGCAGGACACAGCAGATGGGCACCTGGGACCACCTCCACCCAGGGCCCTGCCCCAGACGCGCAGAGGCCCGACACAAGGGAGAAGCCAGCCACTTGTGCCAGACCTGAGTGGCAGAAAGCAAAAAGTTCCTTTGCTGCTTTAATTTTTAAATTTTCTTACAAAAATTTAGGTGTTTACCAATAGTCTTATTTTGGCTTATTTTTAATGCTTTTTCTCAGTGTTTTTCTTCTGTTTCTGAGTCACGAACAGCAGGCACTGAAAGCAGTCCCCCAGCCACTGCCGAAGGTCAGTCCCGGAGGTGCTGCCCAGGCTCCAGGCAGATGCGGCAGCCCCGGCCCCAGCCAGCATGGGCTGGAGAAAGGCTCTCTACTGCACAGGGGCCTCACGTGACTGCAGGGCTCTGGGGAGGTGGGGCACCTGTAGCCTGACCCCCACCTTGCTGCTTCCAAAGCTTCCTTGCCCAGGGCTGGGCCTTGTGGGGCACCCCCCACACCGTGGTCTGCCTGCCTGCAGGGTGCCCAGGGAGACCCTCCGCCTTTAGAAGTCCAAGTTCTTTCCCAGCCCCCTCCCTGCCTAGCTGCCTGCCCCTGGCGCCAGACCTGGCCCGCACCACTGGGGCACTGTGTTCCCAGGGGCACCCTCCTATCCCACCAGCCCCAAAGCCCAGCCAGGCACCCTTCCCTGCCACCTCCCTGGGCCCTGCCCCAGCAGCCCAGTCGGCCTCCTCGGGCCTTCTGTCACTCGCTCACACACAGCACCATGTCAGTAAACAGCTAACTCAGGCCTAGGGAGTTAGGTAGGATGGGGGGAGTGGGGTGGGGGGGCAGGAGGGTGTCCCCAAAGTCAGGCTTGGCTGGGGCGAGGCGCTGCCAACCCCTGCCGCCAGGGGGCTCCAAGCTCCACGGCACGATCTGCTCAGGGTGGCCCTTCTTCCACGATCCAAGCCCTAAGAACAAGAGGCTGGGCCTGGGCCCTGCAGAGGGAAAGGGGATGGTGGACGCTGCAGCCACTGAGT
|
benign
| 322,496 |
Does the variant impacting TANGO2 (transport and golgi organization 2 homolog) on chromosome 22, position 20036801, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome']
|
CTTCTGTCTCCTTCGCCCCCGAGGCCACCAGAGTATGAGCCCCAGTGTGTTCAGTGGGCAAACGCTCTCAGGCAGGATTGGCCACTGTGTTCTGCTGTCCTCTGTGGGCCACGCTCTCCGAACTGTTGGCCAAATGCTGCATGAGCTCATCAGCTCCTGGCAATTTTTAAGATGTTTTCATATTTCATCCAGCATCTTGAGTTGTTTTTACCAAAAGGATTGCCCCTAGTAGCCTGCCCACCCTCGGATGATGGCCCCCTGTGGGCGCTTCCAGGGCACCCGGCAAGGGGACCCAACCCACTTCCAGCCCCACAGTCTGCTTCCCACAGGGCCCCCTTGCAACAACACACCCTTTAGCTTCCCATCCTATGCAGAGTGGTGGCCAGCAGACCATCTCAAATGGCTGCCCATCCCCCTGACCCAGTGCGTCTGCACGTGGCGCTTATTGCTATCCCAATACTTCAACTGCACAGCCACCAGCTCCTCACTGGAGCAGATGGTCCCCAATGGCCATCCCTAATGCCCGTGCCTATGGAGGCACATACACTGAGCCCTCTTCACCTCCGTCCCCACTCATTAGACTTTTCTCAGAGGAATCTTTTTGGGTCTCTTCAGTATTTGAACAGCTTCTTGGCTGTCCCATGTCCCAGCTGTGAGCACTGGCTCTGCCCTGGAGCCGTGTCACTAAATCATTGCACATGTGCACATTTCAGGGAACTTGGGTGTCACCCTTGGGTGGCCTCGGAATCTAATCTCCGTTCTGCACTCGTTTGCATTGTGGAAAACTGCCTGCTCTGGGCCCCAGAGGTCCCTGGGTGGGGACGAGGTGTATGCTAAGTGTGCAGTCACCCAGCGTGTCCCCGGCACGTGTCCATGCCAGCTGCTGTGGGTGTGTGGGGCCTTCGGGTCCTGTGGGATGGCGAGTGTGTGTGCTGAGCAGGACCTGTAGGGCCTGCATCCCAGGTGAGTGGGCCATGCTGTTGGAGGCGGAGGCAGGGCTGCCCCCACTGGTGGCGTGTGGGGTGGGTTTGGTGCTGTTGCAGGGGAGGAGATGTGCATGTGGGGGACAGTCTTGAAGGAAGAATGTATACAGTGGTCTATTTCCAAGACAAAGTGTCTTAAATTGGCTTAGCTCAGCAAACTACAGAAGAAACAGGATATACTAGGCCACCCTGCTTGGATAGCTGATGTGTGCTTGTCGGCCTCCACTTTCCCCGCACTTAGTTGCCTTCACCCGAACCAAAGAAGTTCAGTCTAAGCTGAAAGTTTACTAGCCTGCAAAATAGCTCATTTTGTCTGTTCTTATCAGCCTGCCTGCTACTTAGGTCGTAAGTTAAATACTTAAAAAGTCCCTGAGCTAACTAGGACTGCAATGCATTGTGGGCTGCAACAAAATACAGCAAGACAAGCCCCCAAAAAAACACCTGAAGCCCCTACCCAACAATTAATAGGCGACGTCCGGGAAAATTGTGACCCCACAGTACTCGGCCTATGAGGAACTGGGGGAGGGACCTGCGTACTAGGGGATAAATTGCTTGTCGAAACTGTGCTGGGTGTGCCTGTCTGACACCTGATCTTGCAAGACTGTCATTAAAAGTCTCACTTTCGCTGTTCTCTGGGTCTGAGTTCATTCTTTAGATTTGGATGGGTAAGTTTGTTTCTCACAGTGTGGCTCCTGCCCTCACTTCTGCTGCCCCCCGGGGACCCCCTCGGCACCCCAGCTCGGTGTGTCCAGGCCTTAAGACTACCATGGTGCTGATGGGATGCTTCTGTTCAGGGCTGGTGTTGCAGGTGGTGGAGAGACAGTCTGGCCAGTGCCAATGAGTGCATGGGTTTGGGAGTTGTTTGTGTGGCACCGGCCAAGAGTGTGGTGTCCAGTTCCCCCACACCCAGCAAGTAGTACAGACACCACAGAGGTGGTTCTCTCTGTTCTGGCCTGTTGCAGGTTCGGAGGGCAGCCCTGAGTGTCTGCCATCCGCTCAACTCAGTGTTTTCCTTTTCCCGCAGACCTCGCGACCTGTGTCAGCAGAGCCGCCCTGCACCACCATGTGCATCATCTTCTTTAAGTTTGATCCTCGCCCTGTTTCCAAAAACGCGTACAGGTAACCCCCTCGCTCTGCATCTGCTGCGCCCTGCAGGGTCCTGGGTGCCCAGCCAGTTCTCATGCCACCCAAGCTGCTGTGTGCAGGAAGGTGTGTGGGCCAGGACGGGGCTGCACAGGCCTGGCACTGCCCTCCAGGACAGGGTCACTCAGTGTGGGATGCTGTCAGAATGCCTCTCGGGGCGGGGACTCCAGTCAATGTACAAAGACGTGAAGACTCAGCCACAGAAGGCAGCCACAGGTAGGACAGAGGAGTGACATGGGTCCAGGTGGGCTGCAGTTCTATGGGCTTTGAGGAGGGTCGGGCGGCAGAACTGGGACAACGGCGTCAGTGAGTGAGAGCCAGCTTGGGCTGGCGGGTCACAGCTGCTGGTGAGAAGTCAAAGTGGCGGCCAGGCTAGGGGTCTGTGGGTGGGTCCTGAGCTGAGGAAAAAGAACCTGGGGAAGAGGGGACGCTGAGGACCAGCCAGAGGAGTCAGGAAATCGAGGCCAGAAGCCACCCCTGACCCTGGACTCAGGACGGCCACACCTCCATTCCCCAGGACACCCCAGCATTTATCCACACAGAGAACGAGGCAGAGATATAACCCACATCTAAAATGAAACGTGTAACCACTCTCTAATGCAACTGCTCGGGAAGTTTTCATCATTTTAAAATCTGTACCAGAAATGATTTGAACCATTTCAAGAGGGTCTCAGATTTGAGTCACTGCAAAGTTGCATAGACACCATGCTGCTTGACTTCAAGGCTGAGTGAAGTCATTTCAGGCCAAGGAATCAGGAAGGAAGGGTGTCTGGTGTTTTCCCTTTTTGCAGTTGGGTGAGTGGCAGGTCCCAGCAGCAGACAGCATGCTGCAGGGAAGGTGGAAGAAATGTTAGGAAAGAACTATTGACTGCTACAGGGACTGGAGTAGTGTTGGGCTGGCTAGTGAGTGAACAGAACTCTAAAGAATGTAGGGGCTGGCCGAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGATCCAGACCATCCTGGATAACACATCTCTACTAAAAACACACAAAAAAATTAGCTGGGCATGGGGGTGGGCGCCTGTAGTCCCAGCCACTTGGGAGGCTGAGACAAGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCATGGGCAACAGAGCGAGACTGCATCTCAAAAAAAAGATGAAGGTAAAATAAGGTCATGTGGGTAGGCCCTAATCAATGTGATGGGTGACTCAGATACGCACAGGGGAAGCTGGTGTGTATACAGAGATAGAAGCAGTCGTCTGCATACCGAGAAGACCCTCAAAAGGAGCCAGCCCTGCTGACGCCTTGATCTTGGATCTCCAGCATCCAATGCTGCGAGACAATAGTGTCTGTTGTTGCAGCCGCCTGGTCTGTGGTGCTTAGTTACGGCAGCCCCAGGAAACTAGCACGCTGAGGAGAGCCAGCCAGCTCTGTATGCGTTTCAGGGCTGCCTCCTGCAGGCTGCTGAAGAGACTCAACCCACCCCGAGTGCTCCCATCTCTGGAAAGGAAGCTTGATGGCTGGCCTGCGGGTGCTGGTCAGTGCCACCCAGCCCCTTGGGTGGAGAGGAGGAGGGTTGACATGGGCCCCTCTTGCTTTCACTCAGAACCCGTGTGTTGCTGCCAGGACCTGTCCTGCGGGTCCTGCCATTCCAGTTGGCCTCGGGATTTCTCTGGACTATTTTCCGAAGCCCTAAGCCAAAGACGAAATGTGCCACCTCTGGGTGACTGAGCAAATGTGCGCTGTGTTTTCCTGACTTCATGGGAGGGTGTGAGACACTTCTGGTGGCTGCTTCTGCTCTGCCTGTGGGGTGTCCAGCCAGGGGAAGGGCACGCTGCAGGCTGGGAGCACAGACACTTCTATGGAGCCCCTGACAGCACCTCTGCAGCACTTTGGGAGGCCTCGT
|
CTTCTGTCTCCTTCGCCCCCGAGGCCACCAGAGTATGAGCCCCAGTGTGTTCAGTGGGCAAACGCTCTCAGGCAGGATTGGCCACTGTGTTCTGCTGTCCTCTGTGGGCCACGCTCTCCGAACTGTTGGCCAAATGCTGCATGAGCTCATCAGCTCCTGGCAATTTTTAAGATGTTTTCATATTTCATCCAGCATCTTGAGTTGTTTTTACCAAAAGGATTGCCCCTAGTAGCCTGCCCACCCTCGGATGATGGCCCCCTGTGGGCGCTTCCAGGGCACCCGGCAAGGGGACCCAACCCACTTCCAGCCCCACAGTCTGCTTCCCACAGGGCCCCCTTGCAACAACACACCCTTTAGCTTCCCATCCTATGCAGAGTGGTGGCCAGCAGACCATCTCAAATGGCTGCCCATCCCCCTGACCCAGTGCGTCTGCACGTGGCGCTTATTGCTATCCCAATACTTCAACTGCACAGCCACCAGCTCCTCACTGGAGCAGATGGTCCCCAATGGCCATCCCTAATGCCCGTGCCTATGGAGGCACATACACTGAGCCCTCTTCACCTCCGTCCCCACTCATTAGACTTTTCTCAGAGGAATCTTTTTGGGTCTCTTCAGTATTTGAACAGCTTCTTGGCTGTCCCATGTCCCAGCTGTGAGCACTGGCTCTGCCCTGGAGCCGTGTCACTAAATCATTGCACATGTGCACATTTCAGGGAACTTGGGTGTCACCCTTGGGTGGCCTCGGAATCTAATCTCCGTTCTGCACTCGTTTGCATTGTGGAAAACTGCCTGCTCTGGGCCCCAGAGGTCCCTGGGTGGGGACGAGGTGTATGCTAAGTGTGCAGTCACCCAGCGTGTCCCCGGCACGTGTCCATGCCAGCTGCTGTGGGTGTGTGGGGCCTTCGGGTCCTGTGGGATGGCGAGTGTGTGTGCTGAGCAGGACCTGTAGGGCCTGCATCCCAGGTGAGTGGGCCATGCTGTTGGAGGCGGAGGCAGGGCTGCCCCCACTGGTGGCGTGTGGGGTGGGTTTGGTGCTGTTGCAGGGGAGGAGATGTGCATGTGGGGGACAGTCTTGAAGGAAGAATGTATACAGTGGTCTATTTCCAAGACAAAGTGTCTTAAATTGGCTTAGCTCAGCAAACTACAGAAGAAACAGGATATACTAGGCCACCCTGCTTGGATAGCTGATGTGTGCTTGTCGGCCTCCACTTTCCCCGCACTTAGTTGCCTTCACCCGAACCAAAGAAGTTCAGTCTAAGCTGAAAGTTTACTAGCCTGCAAAATAGCTCATTTTGTCTGTTCTTATCAGCCTGCCTGCTACTTAGGTCGTAAGTTAAATACTTAAAAAGTCCCTGAGCTAACTAGGACTGCAATGCATTGTGGGCTGCAACAAAATACAGCAAGACAAGCCCCCAAAAAAACACCTGAAGCCCCTACCCAACAATTAATAGGCGACGTCCGGGAAAATTGTGACCCCACAGTACTCGGCCTATGAGGAACTGGGGGAGGGACCTGCGTACTAGGGGATAAATTGCTTGTCGAAACTGTGCTGGGTGTGCCTGTCTGACACCTGATCTTGCAAGACTGTCATTAAAAGTCTCACTTTCGCTGTTCTCTGGGTCTGAGTTCATTCTTTAGATTTGGATGGGTAAGTTTGTTTCTCACAGTGTGGCTCCTGCCCTCACTTCTGCTGCCCCCCGGGGACCCCCTCGGCACCCCAGCTCGGTGTGTCCAGGCCTTAAGACTACCATGGTGCTGATGGGATGCTTCTGTTCAGGGCTGGTGTTGCAGGTGGTGGAGAGACAGTCTGGCCAGTGCCAATGAGTGCATGGGTTTGGGAGTTGTTTGTGTGGCACCGGCCAAGAGTGTGGTGTCCAGTTCCCCCACACCCAGCAAGTAGTACAGACACCACAGAGGTGGTTCTCTCTGTTCTGGCCTGTTGCAGGTTCGGAGGGCAGCCCTGAGTGTCTGCCATCCGCTCAACTCAGTGTTTTCCTTTTCCCGCAGACCTCGCGACCTGTGTCAGCAGAGCCGCCCTGCACCACCATGGCATCATCTTCTTTAAGTTTGATCCTCGCCCTGTTTCCAAAAACGCGTACAGGTAACCCCCTCGCTCTGCATCTGCTGCGCCCTGCAGGGTCCTGGGTGCCCAGCCAGTTCTCATGCCACCCAAGCTGCTGTGTGCAGGAAGGTGTGTGGGCCAGGACGGGGCTGCACAGGCCTGGCACTGCCCTCCAGGACAGGGTCACTCAGTGTGGGATGCTGTCAGAATGCCTCTCGGGGCGGGGACTCCAGTCAATGTACAAAGACGTGAAGACTCAGCCACAGAAGGCAGCCACAGGTAGGACAGAGGAGTGACATGGGTCCAGGTGGGCTGCAGTTCTATGGGCTTTGAGGAGGGTCGGGCGGCAGAACTGGGACAACGGCGTCAGTGAGTGAGAGCCAGCTTGGGCTGGCGGGTCACAGCTGCTGGTGAGAAGTCAAAGTGGCGGCCAGGCTAGGGGTCTGTGGGTGGGTCCTGAGCTGAGGAAAAAGAACCTGGGGAAGAGGGGACGCTGAGGACCAGCCAGAGGAGTCAGGAAATCGAGGCCAGAAGCCACCCCTGACCCTGGACTCAGGACGGCCACACCTCCATTCCCCAGGACACCCCAGCATTTATCCACACAGAGAACGAGGCAGAGATATAACCCACATCTAAAATGAAACGTGTAACCACTCTCTAATGCAACTGCTCGGGAAGTTTTCATCATTTTAAAATCTGTACCAGAAATGATTTGAACCATTTCAAGAGGGTCTCAGATTTGAGTCACTGCAAAGTTGCATAGACACCATGCTGCTTGACTTCAAGGCTGAGTGAAGTCATTTCAGGCCAAGGAATCAGGAAGGAAGGGTGTCTGGTGTTTTCCCTTTTTGCAGTTGGGTGAGTGGCAGGTCCCAGCAGCAGACAGCATGCTGCAGGGAAGGTGGAAGAAATGTTAGGAAAGAACTATTGACTGCTACAGGGACTGGAGTAGTGTTGGGCTGGCTAGTGAGTGAACAGAACTCTAAAGAATGTAGGGGCTGGCCGAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGATCCAGACCATCCTGGATAACACATCTCTACTAAAAACACACAAAAAAATTAGCTGGGCATGGGGGTGGGCGCCTGTAGTCCCAGCCACTTGGGAGGCTGAGACAAGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCATGGGCAACAGAGCGAGACTGCATCTCAAAAAAAAGATGAAGGTAAAATAAGGTCATGTGGGTAGGCCCTAATCAATGTGATGGGTGACTCAGATACGCACAGGGGAAGCTGGTGTGTATACAGAGATAGAAGCAGTCGTCTGCATACCGAGAAGACCCTCAAAAGGAGCCAGCCCTGCTGACGCCTTGATCTTGGATCTCCAGCATCCAATGCTGCGAGACAATAGTGTCTGTTGTTGCAGCCGCCTGGTCTGTGGTGCTTAGTTACGGCAGCCCCAGGAAACTAGCACGCTGAGGAGAGCCAGCCAGCTCTGTATGCGTTTCAGGGCTGCCTCCTGCAGGCTGCTGAAGAGACTCAACCCACCCCGAGTGCTCCCATCTCTGGAAAGGAAGCTTGATGGCTGGCCTGCGGGTGCTGGTCAGTGCCACCCAGCCCCTTGGGTGGAGAGGAGGAGGGTTGACATGGGCCCCTCTTGCTTTCACTCAGAACCCGTGTGTTGCTGCCAGGACCTGTCCTGCGGGTCCTGCCATTCCAGTTGGCCTCGGGATTTCTCTGGACTATTTTCCGAAGCCCTAAGCCAAAGACGAAATGTGCCACCTCTGGGTGACTGAGCAAATGTGCGCTGTGTTTTCCTGACTTCATGGGAGGGTGTGAGACACTTCTGGTGGCTGCTTCTGCTCTGCCTGTGGGGTGTCCAGCCAGGGGAAGGGCACGCTGCAGGCTGGGAGCACAGACACTTCTATGGAGCCCCTGACAGCACCTCTGCAGCACTTTGGGAGGCCTCGTN
|
pathogenic
| 322,549 |
Chromosome 22, position 20036832, gene TANGO2 (transport and golgi organization 2 homolog): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic
|
AGTATGAGCCCCAGTGTGTTCAGTGGGCAAACGCTCTCAGGCAGGATTGGCCACTGTGTTCTGCTGTCCTCTGTGGGCCACGCTCTCCGAACTGTTGGCCAAATGCTGCATGAGCTCATCAGCTCCTGGCAATTTTTAAGATGTTTTCATATTTCATCCAGCATCTTGAGTTGTTTTTACCAAAAGGATTGCCCCTAGTAGCCTGCCCACCCTCGGATGATGGCCCCCTGTGGGCGCTTCCAGGGCACCCGGCAAGGGGACCCAACCCACTTCCAGCCCCACAGTCTGCTTCCCACAGGGCCCCCTTGCAACAACACACCCTTTAGCTTCCCATCCTATGCAGAGTGGTGGCCAGCAGACCATCTCAAATGGCTGCCCATCCCCCTGACCCAGTGCGTCTGCACGTGGCGCTTATTGCTATCCCAATACTTCAACTGCACAGCCACCAGCTCCTCACTGGAGCAGATGGTCCCCAATGGCCATCCCTAATGCCCGTGCCTATGGAGGCACATACACTGAGCCCTCTTCACCTCCGTCCCCACTCATTAGACTTTTCTCAGAGGAATCTTTTTGGGTCTCTTCAGTATTTGAACAGCTTCTTGGCTGTCCCATGTCCCAGCTGTGAGCACTGGCTCTGCCCTGGAGCCGTGTCACTAAATCATTGCACATGTGCACATTTCAGGGAACTTGGGTGTCACCCTTGGGTGGCCTCGGAATCTAATCTCCGTTCTGCACTCGTTTGCATTGTGGAAAACTGCCTGCTCTGGGCCCCAGAGGTCCCTGGGTGGGGACGAGGTGTATGCTAAGTGTGCAGTCACCCAGCGTGTCCCCGGCACGTGTCCATGCCAGCTGCTGTGGGTGTGTGGGGCCTTCGGGTCCTGTGGGATGGCGAGTGTGTGTGCTGAGCAGGACCTGTAGGGCCTGCATCCCAGGTGAGTGGGCCATGCTGTTGGAGGCGGAGGCAGGGCTGCCCCCACTGGTGGCGTGTGGGGTGGGTTTGGTGCTGTTGCAGGGGAGGAGATGTGCATGTGGGGGACAGTCTTGAAGGAAGAATGTATACAGTGGTCTATTTCCAAGACAAAGTGTCTTAAATTGGCTTAGCTCAGCAAACTACAGAAGAAACAGGATATACTAGGCCACCCTGCTTGGATAGCTGATGTGTGCTTGTCGGCCTCCACTTTCCCCGCACTTAGTTGCCTTCACCCGAACCAAAGAAGTTCAGTCTAAGCTGAAAGTTTACTAGCCTGCAAAATAGCTCATTTTGTCTGTTCTTATCAGCCTGCCTGCTACTTAGGTCGTAAGTTAAATACTTAAAAAGTCCCTGAGCTAACTAGGACTGCAATGCATTGTGGGCTGCAACAAAATACAGCAAGACAAGCCCCCAAAAAAACACCTGAAGCCCCTACCCAACAATTAATAGGCGACGTCCGGGAAAATTGTGACCCCACAGTACTCGGCCTATGAGGAACTGGGGGAGGGACCTGCGTACTAGGGGATAAATTGCTTGTCGAAACTGTGCTGGGTGTGCCTGTCTGACACCTGATCTTGCAAGACTGTCATTAAAAGTCTCACTTTCGCTGTTCTCTGGGTCTGAGTTCATTCTTTAGATTTGGATGGGTAAGTTTGTTTCTCACAGTGTGGCTCCTGCCCTCACTTCTGCTGCCCCCCGGGGACCCCCTCGGCACCCCAGCTCGGTGTGTCCAGGCCTTAAGACTACCATGGTGCTGATGGGATGCTTCTGTTCAGGGCTGGTGTTGCAGGTGGTGGAGAGACAGTCTGGCCAGTGCCAATGAGTGCATGGGTTTGGGAGTTGTTTGTGTGGCACCGGCCAAGAGTGTGGTGTCCAGTTCCCCCACACCCAGCAAGTAGTACAGACACCACAGAGGTGGTTCTCTCTGTTCTGGCCTGTTGCAGGTTCGGAGGGCAGCCCTGAGTGTCTGCCATCCGCTCAACTCAGTGTTTTCCTTTTCCCGCAGACCTCGCGACCTGTGTCAGCAGAGCCGCCCTGCACCACCATGTGCATCATCTTCTTTAAGTTTGATCCTCGCCCTGTTTCCAAAAACGCGTACAGGTAACCCCCTCGCTCTGCATCTGCTGCGCCCTGCAGGGTCCTGGGTGCCCAGCCAGTTCTCATGCCACCCAAGCTGCTGTGTGCAGGAAGGTGTGTGGGCCAGGACGGGGCTGCACAGGCCTGGCACTGCCCTCCAGGACAGGGTCACTCAGTGTGGGATGCTGTCAGAATGCCTCTCGGGGCGGGGACTCCAGTCAATGTACAAAGACGTGAAGACTCAGCCACAGAAGGCAGCCACAGGTAGGACAGAGGAGTGACATGGGTCCAGGTGGGCTGCAGTTCTATGGGCTTTGAGGAGGGTCGGGCGGCAGAACTGGGACAACGGCGTCAGTGAGTGAGAGCCAGCTTGGGCTGGCGGGTCACAGCTGCTGGTGAGAAGTCAAAGTGGCGGCCAGGCTAGGGGTCTGTGGGTGGGTCCTGAGCTGAGGAAAAAGAACCTGGGGAAGAGGGGACGCTGAGGACCAGCCAGAGGAGTCAGGAAATCGAGGCCAGAAGCCACCCCTGACCCTGGACTCAGGACGGCCACACCTCCATTCCCCAGGACACCCCAGCATTTATCCACACAGAGAACGAGGCAGAGATATAACCCACATCTAAAATGAAACGTGTAACCACTCTCTAATGCAACTGCTCGGGAAGTTTTCATCATTTTAAAATCTGTACCAGAAATGATTTGAACCATTTCAAGAGGGTCTCAGATTTGAGTCACTGCAAAGTTGCATAGACACCATGCTGCTTGACTTCAAGGCTGAGTGAAGTCATTTCAGGCCAAGGAATCAGGAAGGAAGGGTGTCTGGTGTTTTCCCTTTTTGCAGTTGGGTGAGTGGCAGGTCCCAGCAGCAGACAGCATGCTGCAGGGAAGGTGGAAGAAATGTTAGGAAAGAACTATTGACTGCTACAGGGACTGGAGTAGTGTTGGGCTGGCTAGTGAGTGAACAGAACTCTAAAGAATGTAGGGGCTGGCCGAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGATCCAGACCATCCTGGATAACACATCTCTACTAAAAACACACAAAAAAATTAGCTGGGCATGGGGGTGGGCGCCTGTAGTCCCAGCCACTTGGGAGGCTGAGACAAGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCATGGGCAACAGAGCGAGACTGCATCTCAAAAAAAAGATGAAGGTAAAATAAGGTCATGTGGGTAGGCCCTAATCAATGTGATGGGTGACTCAGATACGCACAGGGGAAGCTGGTGTGTATACAGAGATAGAAGCAGTCGTCTGCATACCGAGAAGACCCTCAAAAGGAGCCAGCCCTGCTGACGCCTTGATCTTGGATCTCCAGCATCCAATGCTGCGAGACAATAGTGTCTGTTGTTGCAGCCGCCTGGTCTGTGGTGCTTAGTTACGGCAGCCCCAGGAAACTAGCACGCTGAGGAGAGCCAGCCAGCTCTGTATGCGTTTCAGGGCTGCCTCCTGCAGGCTGCTGAAGAGACTCAACCCACCCCGAGTGCTCCCATCTCTGGAAAGGAAGCTTGATGGCTGGCCTGCGGGTGCTGGTCAGTGCCACCCAGCCCCTTGGGTGGAGAGGAGGAGGGTTGACATGGGCCCCTCTTGCTTTCACTCAGAACCCGTGTGTTGCTGCCAGGACCTGTCCTGCGGGTCCTGCCATTCCAGTTGGCCTCGGGATTTCTCTGGACTATTTTCCGAAGCCCTAAGCCAAAGACGAAATGTGCCACCTCTGGGTGACTGAGCAAATGTGCGCTGTGTTTTCCTGACTTCATGGGAGGGTGTGAGACACTTCTGGTGGCTGCTTCTGCTCTGCCTGTGGGGTGTCCAGCCAGGGGAAGGGCACGCTGCAGGCTGGGAGCACAGACACTTCTATGGAGCCCCTGACAGCACCTCTGCAGCACTTTGGGAGGCCTCGTACAGGTACCCAGCTAGGCTGGGCTGGACTCC
|
AGTATGAGCCCCAGTGTGTTCAGTGGGCAAACGCTCTCAGGCAGGATTGGCCACTGTGTTCTGCTGTCCTCTGTGGGCCACGCTCTCCGAACTGTTGGCCAAATGCTGCATGAGCTCATCAGCTCCTGGCAATTTTTAAGATGTTTTCATATTTCATCCAGCATCTTGAGTTGTTTTTACCAAAAGGATTGCCCCTAGTAGCCTGCCCACCCTCGGATGATGGCCCCCTGTGGGCGCTTCCAGGGCACCCGGCAAGGGGACCCAACCCACTTCCAGCCCCACAGTCTGCTTCCCACAGGGCCCCCTTGCAACAACACACCCTTTAGCTTCCCATCCTATGCAGAGTGGTGGCCAGCAGACCATCTCAAATGGCTGCCCATCCCCCTGACCCAGTGCGTCTGCACGTGGCGCTTATTGCTATCCCAATACTTCAACTGCACAGCCACCAGCTCCTCACTGGAGCAGATGGTCCCCAATGGCCATCCCTAATGCCCGTGCCTATGGAGGCACATACACTGAGCCCTCTTCACCTCCGTCCCCACTCATTAGACTTTTCTCAGAGGAATCTTTTTGGGTCTCTTCAGTATTTGAACAGCTTCTTGGCTGTCCCATGTCCCAGCTGTGAGCACTGGCTCTGCCCTGGAGCCGTGTCACTAAATCATTGCACATGTGCACATTTCAGGGAACTTGGGTGTCACCCTTGGGTGGCCTCGGAATCTAATCTCCGTTCTGCACTCGTTTGCATTGTGGAAAACTGCCTGCTCTGGGCCCCAGAGGTCCCTGGGTGGGGACGAGGTGTATGCTAAGTGTGCAGTCACCCAGCGTGTCCCCGGCACGTGTCCATGCCAGCTGCTGTGGGTGTGTGGGGCCTTCGGGTCCTGTGGGATGGCGAGTGTGTGTGCTGAGCAGGACCTGTAGGGCCTGCATCCCAGGTGAGTGGGCCATGCTGTTGGAGGCGGAGGCAGGGCTGCCCCCACTGGTGGCGTGTGGGGTGGGTTTGGTGCTGTTGCAGGGGAGGAGATGTGCATGTGGGGGACAGTCTTGAAGGAAGAATGTATACAGTGGTCTATTTCCAAGACAAAGTGTCTTAAATTGGCTTAGCTCAGCAAACTACAGAAGAAACAGGATATACTAGGCCACCCTGCTTGGATAGCTGATGTGTGCTTGTCGGCCTCCACTTTCCCCGCACTTAGTTGCCTTCACCCGAACCAAAGAAGTTCAGTCTAAGCTGAAAGTTTACTAGCCTGCAAAATAGCTCATTTTGTCTGTTCTTATCAGCCTGCCTGCTACTTAGGTCGTAAGTTAAATACTTAAAAAGTCCCTGAGCTAACTAGGACTGCAATGCATTGTGGGCTGCAACAAAATACAGCAAGACAAGCCCCCAAAAAAACACCTGAAGCCCCTACCCAACAATTAATAGGCGACGTCCGGGAAAATTGTGACCCCACAGTACTCGGCCTATGAGGAACTGGGGGAGGGACCTGCGTACTAGGGGATAAATTGCTTGTCGAAACTGTGCTGGGTGTGCCTGTCTGACACCTGATCTTGCAAGACTGTCATTAAAAGTCTCACTTTCGCTGTTCTCTGGGTCTGAGTTCATTCTTTAGATTTGGATGGGTAAGTTTGTTTCTCACAGTGTGGCTCCTGCCCTCACTTCTGCTGCCCCCCGGGGACCCCCTCGGCACCCCAGCTCGGTGTGTCCAGGCCTTAAGACTACCATGGTGCTGATGGGATGCTTCTGTTCAGGGCTGGTGTTGCAGGTGGTGGAGAGACAGTCTGGCCAGTGCCAATGAGTGCATGGGTTTGGGAGTTGTTTGTGTGGCACCGGCCAAGAGTGTGGTGTCCAGTTCCCCCACACCCAGCAAGTAGTACAGACACCACAGAGGTGGTTCTCTCTGTTCTGGCCTGTTGCAGGTTCGGAGGGCAGCCCTGAGTGTCTGCCATCCGCTCAACTCAGTGTTTTCCTTTTCCCGCAGACCTCGCGACCTGTGTCAGCAGAGCCGCCCTGCACCACCATGTGCATCATCTTCTTTAAGTTTGATCCTCGCCGTTTCCAAAAACGCGTACAGGTAACCCCCTCGCTCTGCATCTGCTGCGCCCTGCAGGGTCCTGGGTGCCCAGCCAGTTCTCATGCCACCCAAGCTGCTGTGTGCAGGAAGGTGTGTGGGCCAGGACGGGGCTGCACAGGCCTGGCACTGCCCTCCAGGACAGGGTCACTCAGTGTGGGATGCTGTCAGAATGCCTCTCGGGGCGGGGACTCCAGTCAATGTACAAAGACGTGAAGACTCAGCCACAGAAGGCAGCCACAGGTAGGACAGAGGAGTGACATGGGTCCAGGTGGGCTGCAGTTCTATGGGCTTTGAGGAGGGTCGGGCGGCAGAACTGGGACAACGGCGTCAGTGAGTGAGAGCCAGCTTGGGCTGGCGGGTCACAGCTGCTGGTGAGAAGTCAAAGTGGCGGCCAGGCTAGGGGTCTGTGGGTGGGTCCTGAGCTGAGGAAAAAGAACCTGGGGAAGAGGGGACGCTGAGGACCAGCCAGAGGAGTCAGGAAATCGAGGCCAGAAGCCACCCCTGACCCTGGACTCAGGACGGCCACACCTCCATTCCCCAGGACACCCCAGCATTTATCCACACAGAGAACGAGGCAGAGATATAACCCACATCTAAAATGAAACGTGTAACCACTCTCTAATGCAACTGCTCGGGAAGTTTTCATCATTTTAAAATCTGTACCAGAAATGATTTGAACCATTTCAAGAGGGTCTCAGATTTGAGTCACTGCAAAGTTGCATAGACACCATGCTGCTTGACTTCAAGGCTGAGTGAAGTCATTTCAGGCCAAGGAATCAGGAAGGAAGGGTGTCTGGTGTTTTCCCTTTTTGCAGTTGGGTGAGTGGCAGGTCCCAGCAGCAGACAGCATGCTGCAGGGAAGGTGGAAGAAATGTTAGGAAAGAACTATTGACTGCTACAGGGACTGGAGTAGTGTTGGGCTGGCTAGTGAGTGAACAGAACTCTAAAGAATGTAGGGGCTGGCCGAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGATCCAGACCATCCTGGATAACACATCTCTACTAAAAACACACAAAAAAATTAGCTGGGCATGGGGGTGGGCGCCTGTAGTCCCAGCCACTTGGGAGGCTGAGACAAGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCATGGGCAACAGAGCGAGACTGCATCTCAAAAAAAAGATGAAGGTAAAATAAGGTCATGTGGGTAGGCCCTAATCAATGTGATGGGTGACTCAGATACGCACAGGGGAAGCTGGTGTGTATACAGAGATAGAAGCAGTCGTCTGCATACCGAGAAGACCCTCAAAAGGAGCCAGCCCTGCTGACGCCTTGATCTTGGATCTCCAGCATCCAATGCTGCGAGACAATAGTGTCTGTTGTTGCAGCCGCCTGGTCTGTGGTGCTTAGTTACGGCAGCCCCAGGAAACTAGCACGCTGAGGAGAGCCAGCCAGCTCTGTATGCGTTTCAGGGCTGCCTCCTGCAGGCTGCTGAAGAGACTCAACCCACCCCGAGTGCTCCCATCTCTGGAAAGGAAGCTTGATGGCTGGCCTGCGGGTGCTGGTCAGTGCCACCCAGCCCCTTGGGTGGAGAGGAGGAGGGTTGACATGGGCCCCTCTTGCTTTCACTCAGAACCCGTGTGTTGCTGCCAGGACCTGTCCTGCGGGTCCTGCCATTCCAGTTGGCCTCGGGATTTCTCTGGACTATTTTCCGAAGCCCTAAGCCAAAGACGAAATGTGCCACCTCTGGGTGACTGAGCAAATGTGCGCTGTGTTTTCCTGACTTCATGGGAGGGTGTGAGACACTTCTGGTGGCTGCTTCTGCTCTGCCTGTGGGGTGTCCAGCCAGGGGAAGGGCACGCTGCAGGCTGGGAGCACAGACACTTCTATGGAGCCCCTGACAGCACCTCTGCAGCACTTTGGGAGGCCTCGTACAGGTACCCAGCTAGGCTGGGCTGGACTCCNN
|
pathogenic
| 322,550 |
Mutation at chromosome 22, position 20053448, within TANGO2 (transport and golgi organization 2 homolog): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Recurrent_metabolic_encephalomyopathic_crises-rhabdomyolysis-cardiac_arrhythmia-intellectual_disability_syndrome']
|
ACATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGAGAGGTTGCAGTGAGCCGAGAGCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAGTAATAATAACAATAATAAATAAAATAACATCCTAGCCAGTGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGTCGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACAAGCCTGGGCAACACAGCAAAACTTTGTCTGTACAAAAAAATGCAAAAATCAGCCGAGTGTGATGGTACCTGCCTGTGGTCCCAGCTACTTGGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTGGAGGTTGCAGTGAACTGTGTGATTGCCACTGAACTCCAGCTTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATAAAAAATGAAATAAAATAATAAAAATAACATCTTAATGACAGCCTTTTTTGCCCCAATCTTTGGGTAAAATGACCCCCTGGTCTAAGAAGGAGCCCTCCTGTGGCTTTCAGAGCCCTCCAACCTTGTGGCATTAGCAGTGGCCCATGCCCTGCAGATTTGGCGGGGGTGAAGGTCCTGGTTGTGTGCTGGGCTCCTAGTGAAGGGCCTGCCCTTTGGGCCTGGTGCATCCTGCTGGGTGAGGACAGCCAGCGTCCCTGCACCCCATTCATGCGATTGGAGCCTAGTGCTGCCCCTCAGCCTTGACGCTGGCCCAAGTGGAAGGATGTGTTCTGCAGGGCATCTGTTGGGATAGGTGTGGTTGGTGTCATAGTTGTCCTGCAGGACAGGGATCTCACTTGCACGACCCATGAACCCCAGGGGCTGCCTGGCCTTGAAGAGTTCCAGCCACGATTCCATAGCTGGGGCTGCTGGGCCAAGCCGCATGTCGAACGTCCTCGAGGAGCTTGAGGCAGGAGCTGGGCCGAGTATGCGTCTCCCAGGGCTGGGAACCAGGTGGGGGACTGGAATGGGTGGCATCAATGGTGGTAACACTGTCATCTGCCACAGGGCTGGACATGGAGGAAGGCAAGGAAGGAGGCACATGGCTGGGCATCAGCACACGTGGCAAGCTGGCAGCACTCACCAACTACCTGCAGCCGCAGCTGGACTGGCAGGCCCGAGGGCGAGGTAAGGCGAGTGGGGTGGGGCCAAGGTGAGACAGGGTGGGGTGGGGCAGGCCTAGGTGAGACAAGGTGGGGCCAAGGGACTACAGGACTGGCCAATGTATGGTGGAGTGGGGCGGGCCAAGGTAGGAAGTGCCAAGGTGCTTGTGCTTGGGAGTGGGATGGGGCAGGGCTGAGGTACCGTGGGGCAGGGCCAGGTTACAGAGTGGGCGGTGACAAAGCGTGGCAGGGCAGGGCCCAGGTAAGGGTGGGGACAAGAAGGGGGAAGCTGGGCCCCGTGGCAGGTGGGTGGCTTCCGTGGGCATATCACTGCCGCCACTGAGGTGTGCTGCAGGGGTATGCGGCAGAGACAGGAAGAGTGAGGAGGGGAGCATCCCATTTCCCACACCCTGGCCCTCTGGCGTCGCAGCCAGGAGCCCACTCCCACCTGACCCACGCAGCACTGTTTACTCCTCTCAGGGCGCACTCTCCCCTTGTCCTCATGCATGGCACTCCTGACTGCTGTGTCACTGTCCCCTGCCTGGAATGTTTGTAGAGTAGATGCCTTCCCCGAGACGACAGCTCTGTGGACACACATTGTCCCCACTGAAAGGTGTTGTTTACTTCATGCTGGATTTCCATAGGAAGACATAGTGGGGAAATTTTTTTTTTAATAAAATGAGCAGTTTTCAGTGCCGACCTGAGTGGCAGCCAGGCTAATGAGGTGTGGCTGACTCTTGCGGCAGTCATGACAGGCCAGGGCTCCAGTGGGACCCCTCATCTTCCTGCATCCTCCCCAGGGGGCCCCATATCAGTGTTCCTGGGAGAAGAGCACATGCCTGCAGCTGTGGACACAGCATCTGTCCCCTGCCTACAGGTGAACTTGTCACCCACTTTCTGACCACTGACGTGGACAGCTTGTCCTACCTGAAGAAGGTCTCTATGGAGGGCCATCTGTACAATGGCTTCAACCTCATAGCAGCCGACCTGAGGTGGGTCTGCCAGAGGGGGATGGCGGCTCTGCCCAGCACTGCCTCGGGGGCAGGCCTCAGGCTCATCAGGAAGTGGGGTTCCACTGGGGGCTGTGGCAGCCTCTCCAGGGACGTTGCTCCTCGTGACTTGGCAAACATTCTGAGGACTGAGCCTGTCACAGATGTACCAACTCGGGTATTTGGGGGTGAAGCCCAAGGCTTCCTGTGATGGCATGAGGGCTGCCGGATCCCTGGAGAAAGCTGAGGCTGTGAAGAACAGTCACATAGAGTGGCTCTGGCCGGGTGTCCTCCCTCCCACGGGCAGGCTGTGCAGAGCAGCCCTCCGCAGCCCTGGCTTGGAGTGACTGGGATGCTGTGCTCCCAGGGAAGCTCCTGTTGGAGATGAGGCCGCAGGAACTGCGGAGGTTTTGGTGTTTTGCCCTTCCGTGAAGTGAGCATTCCTCCCTCCTGCCCTCCTCCCCCTCCAAAGCCCCAGAACTTGGCCAATGCTGTTAGTCCGGGGCCTTCTGCCAGGACAGGCAAACGGGAAGTGGTCGGCACATTGTGGCGGGCCCTGAAGCTGCCTCCTTCCACAAGGGCAGGTCCATGGGCCTCTCTCCTGGCTCCCGAGCTCCAGGCCTGCTGTTCGTTGAGCATCCCTTGTGTGTGGCATGCCCAGCCCTGCCCCACATGGGTCTGCACACTTGCTATGGAGGCTGGGAGAGTTGCAGTGTCCCCTAGGTGGAAGGCCGAGGGCTGGTGCGGGGCACTTGCTGTCCGGAGCCGTTCTTCCTGCCCATGCCTTCGTGACTCCAGGTGGCAGAGCCCCTGTGCTCTCTGCATGCCCCCATGCTCAGGAACCACTTTTCCCGGTCAGTAGTTCCATGTGGGTCTGATTAGTCTCAGGAGAGTTCCTCTGCGGCCGTGGCACCAGCAGGACTTGGCACTCAGCAGCTGTGTGGAGGTGGGGTGCCAAGGGTGCCATGCCTTGAGCAGATACACGGGCTCCTGTGGTTGGGGGTTGGGGGTTTGGGCTCCTCAGAGCCTGTGCAACTCTCCCGGCTCCAAAGGCTGCAGAGTGAGGGTCAGCCTCCTGGACCTAGCCTGAGGATACAGGCAGTGGCCAGGAGAGCATACCACAGGTCAGGCAAAAGCTGGTGCCAGGGCCGAGGCTGGAGGGCGGGGGCATCGGAGGTCAGTGAGCAGCCCTGCTGGTAGGTGCAGATGAGGAAGCCAAGGCCTGGAAGGGAGAGAGGCTTGTCATGGCCACAGCTATCCCTGGGTGAGGCCTGCCCTCCGCCTGGCCTGTGGTATAGTGCTGGCAGCATGGGTGTCCAGTTCTGTAGGTCCTTACACAGAAAGCCCAGAGGAGATTTTTGCCTGCAAACAGTCTCTGAAATTATGAACCAAGTATCTTAGGAAAGTTGCCAAAGACCATGGTGAGGAAGAACGGGAGTGGAATGTGAACATAGACGGGGGGGCCCTTGAAGCCTACCAGGGGTGGGGAAGGTGGGTCCCACCTGGGGGCAGCACTTCGGGGAGGAAGGCACCATGCCTGGCTCTTTCTCTGCATCTGTTCCATCTTGAAGGCCCAGGGCTCCATGCCCAGCATCTGGCCTGGGAGGGCATCTCACAGGCCACAAAGAGATCCTCTTCACTTTGCAAAAAAGGCACTCCAAGTTCTAGAAGACTTACTGTGGTATTGAGGATTGGAATATTTTCAGCTGGGGAGCATTTTGAACTATTTTCTTTTTAAAAAATGATTTATTTATTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAGTCTGGTTTCAAACTCCTGGCCTCAAGCAGTCCTCCCTCCTTAGTCTCCAGATTAGCTGGGACTATAGGCATGAGTCACTATGCCCAGCTCTACTGTCCCTTAACTATTTTAAAGTGTACACTTAACACTTGAGAGTAGGAAAATGTGGTCTTTGGCGCTT
|
ACATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGAGAGGTTGCAGTGAGCCGAGAGCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAGTAATAATAACAATAATAAATAAAATAACATCCTAGCCAGTGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCTGAGTCGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACAAGCCTGGGCAACACAGCAAAACTTTGTCTGTACAAAAAAATGCAAAAATCAGCCGAGTGTGATGGTACCTGCCTGTGGTCCCAGCTACTTGGGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTGGAGGTTGCAGTGAACTGTGTGATTGCCACTGAACTCCAGCTTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATAAAAAATGAAATAAAATAATAAAAATAACATCTTAATGACAGCCTTTTTTGCCCCAATCTTTGGGTAAAATGACCCCCTGGTCTAAGAAGGAGCCCTCCTGTGGCTTTCAGAGCCCTCCAACCTTGTGGCATTAGCAGTGGCCCATGCCCTGCAGATTTGGCGGGGGTGAAGGTCCTGGTTGTGTGCTGGGCTCCTAGTGAAGGGCCTGCCCTTTGGGCCTGGTGCATCCTGCTGGGTGAGGACAGCCAGCGTCCCTGCACCCCATTCATGCGATTGGAGCCTAGTGCTGCCCCTCAGCCTTGACGCTGGCCCAAGTGGAAGGATGTGTTCTGCAGGGCATCTGTTGGGATAGGTGTGGTTGGTGTCATAGTTGTCCTGCAGGACAGGGATCTCACTTGCACGACCCATGAACCCCAGGGGCTGCCTGGCCTTGAAGAGTTCCAGCCACGATTCCATAGCTGGGGCTGCTGGGCCAAGCCGCATGTCGAACGTCCTCGAGGAGCTTGAGGCAGGAGCTGGGCCGAGTATGCGTCTCCCAGGGCTGGGAACCAGGTGGGGGACTGGAATGGGTGGCATCAATGGTGGTAACACTGTCATCTGCCACAGGGCTGGACATGGAGGAAGGCAAGGAAGGAGGCACATGGCTGGGCATCAGCACACGTGGCAAGCTGGCAGCACTCACCAACTACCTGCAGCCGCAGCTGGACTGGCAGGCCCGAGGGCGAGGTAAGGCGAGTGGGGTGGGGCCAAGGTGAGACAGGGTGGGGTGGGGCAGGCCTAGGTGAGACAAGGTGGGGCCAAGGGACTACAGGACTGGCCAATGTATGGTGGAGTGGGGCGGGCCAAGGTAGGAAGTGCCAAGGTGCTTGTGCTTGGGAGTGGGATGGGGCAGGGCTGAGGTACCGTGGGGCAGGGCCAGGTTACAGAGTGGGCGGTGACAAAGCGTGGCAGGGCAGGGCCCAGGTAAGGGTGGGGACAAGAAGGGGGAAGCTGGGCCCCGTGGCAGGTGGGTGGCTTCCGTGGGCATATCACTGCCGCCACTGAGGTGTGCTGCAGGGGTATGCGGCAGAGACAGGAAGAGTGAGGAGGGGAGCATCCCATTTCCCACACCCTGGCCCTCTGGCGTCGCAGCCAGGAGCCCACTCCCACCTGACCCACGCAGCACTGTTTACTCCTCTCAGGGCGCACTCTCCCCTTGTCCTCATGCATGGCACTCCTGACTGCTGTGTCACTGTCCCCTGCCTGGAATGTTTGTAGAGTAGATGCCTTCCCCGAGACGACAGCTCTGTGGACACACATTGTCCCCACTGAAAGGTGTTGTTTACTTCATGCTGGATTTCCATAGGAAGACATAGTGGGGAAATTTTTTTTTTAATAAAATGAGCAGTTTTCAGTGCCGACCTGAGTGGCAGCCAGGCTAATGAGGTGTGGCTGACTCTTGCGGCAGTCATGACAGGCCAGGGCTCCAGTGGGACCCCTCATCTTCCTGCATCCTCCCCAGGGGGCCCCATATCAGTGTTCCTGGGAGAAGAGCACATGCCTGCAGCTGTGGACACAGCATCTGTCCCCTGCCTACAGGTGAACTTGTCACCACTTTCTGACCACTGACGTGGACAGCTTGTCCTACCTGAAGAAGGTCTCTATGGAGGGCCATCTGTACAATGGCTTCAACCTCATAGCAGCCGACCTGAGGTGGGTCTGCCAGAGGGGGATGGCGGCTCTGCCCAGCACTGCCTCGGGGGCAGGCCTCAGGCTCATCAGGAAGTGGGGTTCCACTGGGGGCTGTGGCAGCCTCTCCAGGGACGTTGCTCCTCGTGACTTGGCAAACATTCTGAGGACTGAGCCTGTCACAGATGTACCAACTCGGGTATTTGGGGGTGAAGCCCAAGGCTTCCTGTGATGGCATGAGGGCTGCCGGATCCCTGGAGAAAGCTGAGGCTGTGAAGAACAGTCACATAGAGTGGCTCTGGCCGGGTGTCCTCCCTCCCACGGGCAGGCTGTGCAGAGCAGCCCTCCGCAGCCCTGGCTTGGAGTGACTGGGATGCTGTGCTCCCAGGGAAGCTCCTGTTGGAGATGAGGCCGCAGGAACTGCGGAGGTTTTGGTGTTTTGCCCTTCCGTGAAGTGAGCATTCCTCCCTCCTGCCCTCCTCCCCCTCCAAAGCCCCAGAACTTGGCCAATGCTGTTAGTCCGGGGCCTTCTGCCAGGACAGGCAAACGGGAAGTGGTCGGCACATTGTGGCGGGCCCTGAAGCTGCCTCCTTCCACAAGGGCAGGTCCATGGGCCTCTCTCCTGGCTCCCGAGCTCCAGGCCTGCTGTTCGTTGAGCATCCCTTGTGTGTGGCATGCCCAGCCCTGCCCCACATGGGTCTGCACACTTGCTATGGAGGCTGGGAGAGTTGCAGTGTCCCCTAGGTGGAAGGCCGAGGGCTGGTGCGGGGCACTTGCTGTCCGGAGCCGTTCTTCCTGCCCATGCCTTCGTGACTCCAGGTGGCAGAGCCCCTGTGCTCTCTGCATGCCCCCATGCTCAGGAACCACTTTTCCCGGTCAGTAGTTCCATGTGGGTCTGATTAGTCTCAGGAGAGTTCCTCTGCGGCCGTGGCACCAGCAGGACTTGGCACTCAGCAGCTGTGTGGAGGTGGGGTGCCAAGGGTGCCATGCCTTGAGCAGATACACGGGCTCCTGTGGTTGGGGGTTGGGGGTTTGGGCTCCTCAGAGCCTGTGCAACTCTCCCGGCTCCAAAGGCTGCAGAGTGAGGGTCAGCCTCCTGGACCTAGCCTGAGGATACAGGCAGTGGCCAGGAGAGCATACCACAGGTCAGGCAAAAGCTGGTGCCAGGGCCGAGGCTGGAGGGCGGGGGCATCGGAGGTCAGTGAGCAGCCCTGCTGGTAGGTGCAGATGAGGAAGCCAAGGCCTGGAAGGGAGAGAGGCTTGTCATGGCCACAGCTATCCCTGGGTGAGGCCTGCCCTCCGCCTGGCCTGTGGTATAGTGCTGGCAGCATGGGTGTCCAGTTCTGTAGGTCCTTACACAGAAAGCCCAGAGGAGATTTTTGCCTGCAAACAGTCTCTGAAATTATGAACCAAGTATCTTAGGAAAGTTGCCAAAGACCATGGTGAGGAAGAACGGGAGTGGAATGTGAACATAGACGGGGGGGCCCTTGAAGCCTACCAGGGGTGGGGAAGGTGGGTCCCACCTGGGGGCAGCACTTCGGGGAGGAAGGCACCATGCCTGGCTCTTTCTCTGCATCTGTTCCATCTTGAAGGCCCAGGGCTCCATGCCCAGCATCTGGCCTGGGAGGGCATCTCACAGGCCACAAAGAGATCCTCTTCACTTTGCAAAAAAGGCACTCCAAGTTCTAGAAGACTTACTGTGGTATTGAGGATTGGAATATTTTCAGCTGGGGAGCATTTTGAACTATTTTCTTTTTAAAAAATGATTTATTTATTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAGTCTGGTTTCAAACTCCTGGCCTCAAGCAGTCCTCCCTCCTTAGTCTCCAGATTAGCTGGGACTATAGGCATGAGTCACTATGCCCAGCTCTACTGTCCCTTAACTATTTTAAAGTGTACACTTAACACTTGAGAGTAGGAAAATGTGGTCTTTGGCGCTTN
|
pathogenic
| 322,561 |
Chromosome 22, position 20425683, gene SCARF2 (scavenger receptor class F member 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GAGAGTGTGCCCAGGACGAGAGCCCCAAGTTGCCAGCGTGAGACCAATGAGTGCTGTGTGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCTGCCCCGGGCGCTCCCTCCGTCTCCCTCAACCTTCCGCAGTAGCAGGCGGGGCTGGCAGGCAGGAGAGTTTCCGGCTGAGGACAAGGAACCCGTTGAGGCAGACAGCAGGGCTCTGTGCAGCAGGAGACCGGCTTGTTTGTGCTGGAGGAGGCCCGGCTGGAGTAAGCGCCCGCGGCCCCCTGGCCGCAGCCTCTGCACCCCCCGCAAGCTGCCACCAACAGCTCTGAGGCCCAAGTTTAACAGCAGCGGCCAGGGGAAAAGGCCGGGATCCGAGGCAGGCCCATCGCCTGTCCCTTTCAGTCAGGGACTCTGCCTGATCTGCCCCCACCCAACCTTCCTCCCCGTGACCAGTCCAGAATGGGGCAGGCCAGATCGGGGCCGCATAAACTTGATAAACAAACGAAGCCTGTGGGTTGACACAGCCCACTTCCACCATGGTCCCGGGAGACCCACGCCTGGGCTCCAGGGCTCCCCGCTGAGATAAGGGGTGGGGGAGAGTGCAGGACAGGTCGTCACATAAAGTTACTTCTGGGGGGCATCTTTGGCCGAAGCCTGCAAACAGGAAGTGATCAGAGCATGAGGGGAAAGGCATTTTATTAAGAAAGCTTTGGCCAAGCCCCCGCCGGGAGGAGCCCATCCTGGGGCACCGGCCGAGGGGGGAGCAGCCCTGCTGGGGGCCTATAAATACATCTCCTCAGGCCACTAGAGTCGCCCCTGGAGGTCCCGCGGCGTGTGGGGCAGTGGGAGGCCATCAAAACCAGCTGACAGCTGAGGGGCCTGGGCCCGGGGCGCCAGGGAAGGGAAGGGGTGGGACGGACTAAGCCCCTGAGGAGCGGAGACCAGCCCTCCTCCCCAGGCTGGGGTCAACCAGATGCCCGGGAGCCTGGCCAGTGGAAGTAGCCCCGGGCTCTATTGGGACGGCCAAGGGAGGGAGCCTCCAGCCAGAGGCACCAGGCCCTAGCGGGGGAGAGGCAGCCCGGGCAGAAGTGCCTCTGGCTGCAACCAATGAGAAGGTAGCCCTAACCAAGTCCACTCCTGGCCAGTAAGAGGCGGTCTTTAAGCGGAACCCTCCCATCTTTGGCCAATGAGACGCTGTCTGGTCGGAGCGCTCCATAACTCGGCCAATGGGGAGGGAGTCGCCCGCTAAGCGCCTGTCAGGCCTCGACCAACGGGATGGGCCCTTCCCGCCAGAGCACACTGCTCCAATCCAGGAGCGGCTGCAGGACCTGAGCCAATGAGACGCAACCTCCGCTAGCCGCGCGGTGCCCGGCCAATAGGAGGCCGCCCGTGCCCGGTAGCGTGGGAGGTGTGGGGTGGCGGGCGGCGCTGCGAAGCTGAGGGAGCTGCGCGCGGACGAGCCACAGCCTGCTACAGGGTGGGTGCGCCCGCCCTGCCCAGCTCGCCCGCCGCCTCCCGGCTCTTCTTGCGCGGCGGCTTCTGGATGGGGGTCTTCTTCCGGGGGGTCTCAGGCGCGGGCAAGTCGGTCGCCGCCTTCTCAGGCCCCGGGGTTTCGGTCGCTGGGGGCGCGCGGGCGGGCGAGGCTGGCGGCACGGAGCGCTTGGCTTTCTGTGGGGGCGCCGGCTTTTCCCTGGGGCCCTGCGCGCCCAGGGCCACCTCGGCGCGGCCCAGGCTGCGAGTCTTGCCGCGCAGCTCAGCGGCCAACATGGAGGCAGCCTCGGGCGCGCTTCGCGGGGGACCGCCGGCGTCCGTGGGCTCCAAGAGGCCGGGGCCGCGGCCCCGCGCTCGGGCCCTGGGCGGCGAGGGCGCAGCGAGGGCTGTCGCCTCCTCGGGCAGCCCGGGGGGCCGCGGCGTTGGGTCGCGGGTCCGGGGGCTGCCGTGTTCGACCGTATGCGCCGATTTGTCGCTGGGCGTCCGTTTCCTCTTGCTGGGGCTGGGCGCGGCCTCGGAGCCTGGCGGCGGTGGTGAGGGCGCACGGCCAGCTGCAGCGGCGCTGTGCTTGCCGTGGATCCAGGACACCTTAGGCTTGGTGGCGGGGTCAGGTGGCGGCGGTTTCCTGCGCTCGGGCGATGGCGACAGCGACAGGCCCCCAATCTCGCCCCGGGCCCGGGCCGGCCGGGCCTCGCGTCGGGCCACGCGCGCGTACAGAGCCCCTCCGGGCCCCTCCACGCTGGACGCCGACCGCTCGCTGTCGGAGGACGCGGGGAGGGGTATCGCCTCCTCGGCGGAGGCTGGCGTGGTCAAGGGCACAGGGGACGGCGCCGGCGCCTCGGCAGGGACAGTGGGGACTTCGGGGTCCCGGCTCTCCGCTGGTGCCTCTGGCAAGGGAAGAGCAGGGCGGTCACAGCCTTCAGGAATACCTTTAGGGGCTCCAACCTCCAGGCGCAAACCTTCACCTTTCCTCCTCTACCCACGCCCTTGGCACTGTGTCACCCTGGCATCTAGACGTGCCTGGCACAGAGCACCAACCACACATGTGTACTTCAGAGCCTCAGGCTATGCGGCTGACTCTGAACTCAGGCTGTGCAAGGAGTGATGGGCGCATTCCCGCGACTGAAGCCCAACCTTGGCCTGGCCTGGCAGCCCTGCCCCAACACCCCTCCAGCCTTGGGCGCCTGCATCATCGAATTTGAGGCTGGAACATCCCCACAGGGGTTCCATTATCCTTCTTTAAGAGAGAAGGCTTCTAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGCGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTCGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGACTGGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCCGTCTCAAAAAAAAAAAAAGAGCGATAAGGCTTCTGAGGCTCTGAGTTGGTCACCTGCCCGTGGCATCTGGGGGCACAGTCAAGGGAGGAGACAGGGCAGAATCCCAGACCATCAGGCTCCTTTCTGCTATCTGTGGATCAAAGGCTGTGTGTGGATCCAACTCCCATACTCTGTGGATCCCTTCCTCCTGTCTCCTCTGCCACCCCCTACCTAAGCCCAGAAACTTCTCTCTGCCTACTTTCCCCCAGGAGCAACCCTGGGCTGTGGCCTACCCATCTCCCCACACCTGTCTCCGGTACTGAGCAGCAGAGTCCAGCTCTATGGCCTCAGCTCTGTGGGCAACCCTCAGGTACCAGCATGGCCAAGGCCTTCCTCTCCATGCTGCCTGCCCTTCTCCTGTGTCCCACCCAGAACACAGCTTTTCCATGGGAACATTTCACTGGGCTGGAGTGATGCCCAGGTAGGGCCTTACTTACCCTCATGGGGTACACAGTACACAGGGCCTTCATCAGTGGTGTCAAACGAGGAGAAGGAGGCCCGAGAGGACCAGGATGGTGAGGGCTGCTCCAGCCCTGAGGGTGGCTCCAGGAAGCTGCAGTTGAGTGTGTTATCCAGGTCGTGGTGGGCCACTGGGGAAGGATGAGGCAGAGCTGCCAGGGGTCCACTCTGCCCCAGCCGGTGCCCTCATTAGCCCCTGCTGTGACAAATGTTGATGGGGTGACCAAGACCAGCCCTATTCTTGGACTGCAGGGGGCACAGGCAACTCAACAGGTACAGTGACACTGGGCCAGGACTGGAGAATGGGTAGA
|
GAGAGTGTGCCCAGGACGAGAGCCCCAAGTTGCCAGCGTGAGACCAATGAGTGCTGTGTGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCTGCCCCGGGCGCTCCCTCCGTCTCCCTCAACCTTCCGCAGTAGCAGGCGGGGCTGGCAGGCAGGAGAGTTTCCGGCTGAGGACAAGGAACCCGTTGAGGCAGACAGCAGGGCTCTGTGCAGCAGGAGACCGGCTTGTTTGTGCTGGAGGAGGCCCGGCTGGAGTAAGCGCCCGCGGCCCCCTGGCCGCAGCCTCTGCACCCCCCGCAAGCTGCCACCAACAGCTCTGAGGCCCAAGTTTAACAGCAGCGGCCAGGGGAAAAGGCCGGGATCCGAGGCAGGCCCATCGCCTGTCCCTTTCAGTCAGGGACTCTGCCTGATCTGCCCCCACCCAACCTTCCTCCCCGTGACCAGTCCAGAATGGGGCAGGCCAGATCGGGGCCGCATAAACTTGATAAACAAACGAAGCCTGTGGGTTGACACAGCCCACTTCCACCATGGTCCCGGGAGACCCACGCCTGGGCTCCAGGGCTCCCCGCTGAGATAAGGGGTGGGGGAGAGTGCAGGACAGGTCGTCACATAAAGTTACTTCTGGGGGGCATCTTTGGCCGAAGCCTGCAAACAGGAAGTGATCAGAGCATGAGGGGAAAGGCATTTTATTAAGAAAGCTTTGGCCAAGCCCCCGCCGGGAGGAGCCCATCCTGGGGCACCGGCCGAGGGGGGAGCAGCCCTGCTGGGGGCCTATAAATACATCTCCTCAGGCCACTAGAGTCGCCCCTGGAGGTCCCGCGGCGTGTGGGGCAGTGGGAGGCCATCAAAACCAGCTGACAGCTGAGGGGCCTGGGCCCGGGGCGCCAGGGAAGGGAAGGGGTGGGACGGACTAAGCCCCTGAGGAGCGGAGACCAGCCCTCCTCCCCAGGCTGGGGTCAACCAGATGCCCGGGAGCCTGGCCAGTGGAAGTAGCCCCGGGCTCTATTGGGACGGCCAAGGGAGGGAGCCTCCAGCCAGAGGCACCAGGCCCTAGCGGGGGAGAGGCAGCCCGGGCAGAAGTGCCTCTGGCTGCAACCAATGAGAAGGTAGCCCTAACCAAGTCCACTCCTGGCCAGTAAGAGGCGGTCTTTAAGCGGAACCCTCCCATCTTTGGCCAATGAGACGCTGTCTGGTCGGAGCGCTCCATAACTCGGCCAATGGGGAGGGAGTCGCCCGCTAAGCGCCTGTCAGGCCTCGACCAACGGGATGGGCCCTTCCCGCCAGAGCACACTGCTCCAATCCAGGAGCGGCTGCAGGACCTGAGCCAATGAGACGCAACCTCCGCTAGCCGCGCGGTGCCCGGCCAATAGGAGGCCGCCCGTGCCCGGTAGCGTGGGAGGTGTGGGGTGGCGGGCGGCGCTGCGAAGCTGAGGGAGCTGCGCGCGGACGAGCCACAGCCTGCTACAGGGTGGGTGCGCCCGCCCTGCCCAGCTCGCCCGCCGCCTCCCGGCTCTTCTTGCGCGGCGGCTTCTGGATGGGGGTCTTCTTCCGGGGGGTCTCAGGCGCGGGCAAGTCGGTCGCCGCCTTCTCAGGCCCCGGGGTTTCGGTCGCTGGGGGCGCGCGGGCGGGCGAGGCTGGCGGCACGGAGCGCTTGGCTTTCTGTGGGGGCGCCGGCTTTTCCCTGGGGCCCTGCGCGCCCAGGGCCACCTCGGCGCGGCCCAGGCTGCGAGTCTTGCCGCGCAGCTCAGCGGCCAACATGGAGGCAGCCTCGGGGCGCGCTTCGCGGGGGACCGCCGGCGTCCGTGGGCTCCAAGAGGCCGGGGCCGCGGCCCCGCGCTCGGGCCCTGGGCGGCGAGGGCGCAGCGAGGGCTGTCGCCTCCTCGGGCAGCCCGGGGGGCCGCGGCGTTGGGTCGCGGGTCCGGGGGCTGCCGTGTTCGACCGTATGCGCCGATTTGTCGCTGGGCGTCCGTTTCCTCTTGCTGGGGCTGGGCGCGGCCTCGGAGCCTGGCGGCGGTGGTGAGGGCGCACGGCCAGCTGCAGCGGCGCTGTGCTTGCCGTGGATCCAGGACACCTTAGGCTTGGTGGCGGGGTCAGGTGGCGGCGGTTTCCTGCGCTCGGGCGATGGCGACAGCGACAGGCCCCCAATCTCGCCCCGGGCCCGGGCCGGCCGGGCCTCGCGTCGGGCCACGCGCGCGTACAGAGCCCCTCCGGGCCCCTCCACGCTGGACGCCGACCGCTCGCTGTCGGAGGACGCGGGGAGGGGTATCGCCTCCTCGGCGGAGGCTGGCGTGGTCAAGGGCACAGGGGACGGCGCCGGCGCCTCGGCAGGGACAGTGGGGACTTCGGGGTCCCGGCTCTCCGCTGGTGCCTCTGGCAAGGGAAGAGCAGGGCGGTCACAGCCTTCAGGAATACCTTTAGGGGCTCCAACCTCCAGGCGCAAACCTTCACCTTTCCTCCTCTACCCACGCCCTTGGCACTGTGTCACCCTGGCATCTAGACGTGCCTGGCACAGAGCACCAACCACACATGTGTACTTCAGAGCCTCAGGCTATGCGGCTGACTCTGAACTCAGGCTGTGCAAGGAGTGATGGGCGCATTCCCGCGACTGAAGCCCAACCTTGGCCTGGCCTGGCAGCCCTGCCCCAACACCCCTCCAGCCTTGGGCGCCTGCATCATCGAATTTGAGGCTGGAACATCCCCACAGGGGTTCCATTATCCTTCTTTAAGAGAGAAGGCTTCTAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGCGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTCGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGACTGGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCCGTCTCAAAAAAAAAAAAAGAGCGATAAGGCTTCTGAGGCTCTGAGTTGGTCACCTGCCCGTGGCATCTGGGGGCACAGTCAAGGGAGGAGACAGGGCAGAATCCCAGACCATCAGGCTCCTTTCTGCTATCTGTGGATCAAAGGCTGTGTGTGGATCCAACTCCCATACTCTGTGGATCCCTTCCTCCTGTCTCCTCTGCCACCCCCTACCTAAGCCCAGAAACTTCTCTCTGCCTACTTTCCCCCAGGAGCAACCCTGGGCTGTGGCCTACCCATCTCCCCACACCTGTCTCCGGTACTGAGCAGCAGAGTCCAGCTCTATGGCCTCAGCTCTGTGGGCAACCCTCAGGTACCAGCATGGCCAAGGCCTTCCTCTCCATGCTGCCTGCCCTTCTCCTGTGTCCCACCCAGAACACAGCTTTTCCATGGGAACATTTCACTGGGCTGGAGTGATGCCCAGGTAGGGCCTTACTTACCCTCATGGGGTACACAGTACACAGGGCCTTCATCAGTGGTGTCAAACGAGGAGAAGGAGGCCCGAGAGGACCAGGATGGTGAGGGCTGCTCCAGCCCTGAGGGTGGCTCCAGGAAGCTGCAGTTGAGTGTGTTATCCAGGTCGTGGTGGGCCACTGGGGAAGGATGAGGCAGAGCTGCCAGGGGTCCACTCTGCCCCAGCCGGTGCCCTCATTAGCCCCTGCTGTGACAAATGTTGATGGGGTGACCAAGACCAGCCCTATTCTTGGACTGCAGGGGGCACAGGCAACTCAACAGGTACAGTGACACTGGGCCAGGACTGGAGAATGGGTAG
|
benign
| 322,600 |
Clinical classification of chromosome 22, position 20425735, gene SCARF2 (scavenger receptor class F member 2): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
GCTGTGTGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCTGCCCCGGGCGCTCCCTCCGTCTCCCTCAACCTTCCGCAGTAGCAGGCGGGGCTGGCAGGCAGGAGAGTTTCCGGCTGAGGACAAGGAACCCGTTGAGGCAGACAGCAGGGCTCTGTGCAGCAGGAGACCGGCTTGTTTGTGCTGGAGGAGGCCCGGCTGGAGTAAGCGCCCGCGGCCCCCTGGCCGCAGCCTCTGCACCCCCCGCAAGCTGCCACCAACAGCTCTGAGGCCCAAGTTTAACAGCAGCGGCCAGGGGAAAAGGCCGGGATCCGAGGCAGGCCCATCGCCTGTCCCTTTCAGTCAGGGACTCTGCCTGATCTGCCCCCACCCAACCTTCCTCCCCGTGACCAGTCCAGAATGGGGCAGGCCAGATCGGGGCCGCATAAACTTGATAAACAAACGAAGCCTGTGGGTTGACACAGCCCACTTCCACCATGGTCCCGGGAGACCCACGCCTGGGCTCCAGGGCTCCCCGCTGAGATAAGGGGTGGGGGAGAGTGCAGGACAGGTCGTCACATAAAGTTACTTCTGGGGGGCATCTTTGGCCGAAGCCTGCAAACAGGAAGTGATCAGAGCATGAGGGGAAAGGCATTTTATTAAGAAAGCTTTGGCCAAGCCCCCGCCGGGAGGAGCCCATCCTGGGGCACCGGCCGAGGGGGGAGCAGCCCTGCTGGGGGCCTATAAATACATCTCCTCAGGCCACTAGAGTCGCCCCTGGAGGTCCCGCGGCGTGTGGGGCAGTGGGAGGCCATCAAAACCAGCTGACAGCTGAGGGGCCTGGGCCCGGGGCGCCAGGGAAGGGAAGGGGTGGGACGGACTAAGCCCCTGAGGAGCGGAGACCAGCCCTCCTCCCCAGGCTGGGGTCAACCAGATGCCCGGGAGCCTGGCCAGTGGAAGTAGCCCCGGGCTCTATTGGGACGGCCAAGGGAGGGAGCCTCCAGCCAGAGGCACCAGGCCCTAGCGGGGGAGAGGCAGCCCGGGCAGAAGTGCCTCTGGCTGCAACCAATGAGAAGGTAGCCCTAACCAAGTCCACTCCTGGCCAGTAAGAGGCGGTCTTTAAGCGGAACCCTCCCATCTTTGGCCAATGAGACGCTGTCTGGTCGGAGCGCTCCATAACTCGGCCAATGGGGAGGGAGTCGCCCGCTAAGCGCCTGTCAGGCCTCGACCAACGGGATGGGCCCTTCCCGCCAGAGCACACTGCTCCAATCCAGGAGCGGCTGCAGGACCTGAGCCAATGAGACGCAACCTCCGCTAGCCGCGCGGTGCCCGGCCAATAGGAGGCCGCCCGTGCCCGGTAGCGTGGGAGGTGTGGGGTGGCGGGCGGCGCTGCGAAGCTGAGGGAGCTGCGCGCGGACGAGCCACAGCCTGCTACAGGGTGGGTGCGCCCGCCCTGCCCAGCTCGCCCGCCGCCTCCCGGCTCTTCTTGCGCGGCGGCTTCTGGATGGGGGTCTTCTTCCGGGGGGTCTCAGGCGCGGGCAAGTCGGTCGCCGCCTTCTCAGGCCCCGGGGTTTCGGTCGCTGGGGGCGCGCGGGCGGGCGAGGCTGGCGGCACGGAGCGCTTGGCTTTCTGTGGGGGCGCCGGCTTTTCCCTGGGGCCCTGCGCGCCCAGGGCCACCTCGGCGCGGCCCAGGCTGCGAGTCTTGCCGCGCAGCTCAGCGGCCAACATGGAGGCAGCCTCGGGCGCGCTTCGCGGGGGACCGCCGGCGTCCGTGGGCTCCAAGAGGCCGGGGCCGCGGCCCCGCGCTCGGGCCCTGGGCGGCGAGGGCGCAGCGAGGGCTGTCGCCTCCTCGGGCAGCCCGGGGGGCCGCGGCGTTGGGTCGCGGGTCCGGGGGCTGCCGTGTTCGACCGTATGCGCCGATTTGTCGCTGGGCGTCCGTTTCCTCTTGCTGGGGCTGGGCGCGGCCTCGGAGCCTGGCGGCGGTGGTGAGGGCGCACGGCCAGCTGCAGCGGCGCTGTGCTTGCCGTGGATCCAGGACACCTTAGGCTTGGTGGCGGGGTCAGGTGGCGGCGGTTTCCTGCGCTCGGGCGATGGCGACAGCGACAGGCCCCCAATCTCGCCCCGGGCCCGGGCCGGCCGGGCCTCGCGTCGGGCCACGCGCGCGTACAGAGCCCCTCCGGGCCCCTCCACGCTGGACGCCGACCGCTCGCTGTCGGAGGACGCGGGGAGGGGTATCGCCTCCTCGGCGGAGGCTGGCGTGGTCAAGGGCACAGGGGACGGCGCCGGCGCCTCGGCAGGGACAGTGGGGACTTCGGGGTCCCGGCTCTCCGCTGGTGCCTCTGGCAAGGGAAGAGCAGGGCGGTCACAGCCTTCAGGAATACCTTTAGGGGCTCCAACCTCCAGGCGCAAACCTTCACCTTTCCTCCTCTACCCACGCCCTTGGCACTGTGTCACCCTGGCATCTAGACGTGCCTGGCACAGAGCACCAACCACACATGTGTACTTCAGAGCCTCAGGCTATGCGGCTGACTCTGAACTCAGGCTGTGCAAGGAGTGATGGGCGCATTCCCGCGACTGAAGCCCAACCTTGGCCTGGCCTGGCAGCCCTGCCCCAACACCCCTCCAGCCTTGGGCGCCTGCATCATCGAATTTGAGGCTGGAACATCCCCACAGGGGTTCCATTATCCTTCTTTAAGAGAGAAGGCTTCTAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGCGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTCGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGACTGGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCCGTCTCAAAAAAAAAAAAAGAGCGATAAGGCTTCTGAGGCTCTGAGTTGGTCACCTGCCCGTGGCATCTGGGGGCACAGTCAAGGGAGGAGACAGGGCAGAATCCCAGACCATCAGGCTCCTTTCTGCTATCTGTGGATCAAAGGCTGTGTGTGGATCCAACTCCCATACTCTGTGGATCCCTTCCTCCTGTCTCCTCTGCCACCCCCTACCTAAGCCCAGAAACTTCTCTCTGCCTACTTTCCCCCAGGAGCAACCCTGGGCTGTGGCCTACCCATCTCCCCACACCTGTCTCCGGTACTGAGCAGCAGAGTCCAGCTCTATGGCCTCAGCTCTGTGGGCAACCCTCAGGTACCAGCATGGCCAAGGCCTTCCTCTCCATGCTGCCTGCCCTTCTCCTGTGTCCCACCCAGAACACAGCTTTTCCATGGGAACATTTCACTGGGCTGGAGTGATGCCCAGGTAGGGCCTTACTTACCCTCATGGGGTACACAGTACACAGGGCCTTCATCAGTGGTGTCAAACGAGGAGAAGGAGGCCCGAGAGGACCAGGATGGTGAGGGCTGCTCCAGCCCTGAGGGTGGCTCCAGGAAGCTGCAGTTGAGTGTGTTATCCAGGTCGTGGTGGGCCACTGGGGAAGGATGAGGCAGAGCTGCCAGGGGTCCACTCTGCCCCAGCCGGTGCCCTCATTAGCCCCTGCTGTGACAAATGTTGATGGGGTGACCAAGACCAGCCCTATTCTTGGACTGCAGGGGGCACAGGCAACTCAACAGGTACAGTGACACTGGGCCAGGACTGGAGAATGGGTAGAGGTGAACCCAGAAAAGAAACATGGGCACAACATGTGTTAAGGTGCAAGGCAA
|
GCTGTGTGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCTGCCCCGGGCGCTCCCTCCGTCTCCCTCAACCTTCCGCAGTAGCAGGCGGGGCTGGCAGGCAGGAGAGTTTCCGGCTGAGGACAAGGAACCCGTTGAGGCAGACAGCAGGGCTCTGTGCAGCAGGAGACCGGCTTGTTTGTGCTGGAGGAGGCCCGGCTGGAGTAAGCGCCCGCGGCCCCCTGGCCGCAGCCTCTGCACCCCCCGCAAGCTGCCACCAACAGCTCTGAGGCCCAAGTTTAACAGCAGCGGCCAGGGGAAAAGGCCGGGATCCGAGGCAGGCCCATCGCCTGTCCCTTTCAGTCAGGGACTCTGCCTGATCTGCCCCCACCCAACCTTCCTCCCCGTGACCAGTCCAGAATGGGGCAGGCCAGATCGGGGCCGCATAAACTTGATAAACAAACGAAGCCTGTGGGTTGACACAGCCCACTTCCACCATGGTCCCGGGAGACCCACGCCTGGGCTCCAGGGCTCCCCGCTGAGATAAGGGGTGGGGGAGAGTGCAGGACAGGTCGTCACATAAAGTTACTTCTGGGGGGCATCTTTGGCCGAAGCCTGCAAACAGGAAGTGATCAGAGCATGAGGGGAAAGGCATTTTATTAAGAAAGCTTTGGCCAAGCCCCCGCCGGGAGGAGCCCATCCTGGGGCACCGGCCGAGGGGGGAGCAGCCCTGCTGGGGGCCTATAAATACATCTCCTCAGGCCACTAGAGTCGCCCCTGGAGGTCCCGCGGCGTGTGGGGCAGTGGGAGGCCATCAAAACCAGCTGACAGCTGAGGGGCCTGGGCCCGGGGCGCCAGGGAAGGGAAGGGGTGGGACGGACTAAGCCCCTGAGGAGCGGAGACCAGCCCTCCTCCCCAGGCTGGGGTCAACCAGATGCCCGGGAGCCTGGCCAGTGGAAGTAGCCCCGGGCTCTATTGGGACGGCCAAGGGAGGGAGCCTCCAGCCAGAGGCACCAGGCCCTAGCGGGGGAGAGGCAGCCCGGGCAGAAGTGCCTCTGGCTGCAACCAATGAGAAGGTAGCCCTAACCAAGTCCACTCCTGGCCAGTAAGAGGCGGTCTTTAAGCGGAACCCTCCCATCTTTGGCCAATGAGACGCTGTCTGGTCGGAGCGCTCCATAACTCGGCCAATGGGGAGGGAGTCGCCCGCTAAGCGCCTGTCAGGCCTCGACCAACGGGATGGGCCCTTCCCGCCAGAGCACACTGCTCCAATCCAGGAGCGGCTGCAGGACCTGAGCCAATGAGACGCAACCTCCGCTAGCCGCGCGGTGCCCGGCCAATAGGAGGCCGCCCGTGCCCGGTAGCGTGGGAGGTGTGGGGTGGCGGGCGGCGCTGCGAAGCTGAGGGAGCTGCGCGCGGACGAGCCACAGCCTGCTACAGGGTGGGTGCGCCCGCCCTGCCCAGCTCGCCCGCCGCCTCCCGGCTCTTCTTGCGCGGCGGCTTCTGGATGGGGGTCTTCTTCCGGGGGGTCTCAGGCGCGGGCAAGTCGGTCGCCGCCTTCTCAGGCCCCGGGGTTTCGGTCGCTGGGGGCGCGCGGGCGGGCGAGGCTGGCGGCACGGAGCGCTTGGCTTTCTGTGGGGGCGCCGGCTTTTCCCTGGGGCCCTGCGCGCCCAGGGCCACCTCGGCGCGGCCCAGGCTGCGAGTCTTGCCGCGCAGCTCAGCGGCCAACATGGAGGCAGCCTCGGGCGCGCTTCGCGGGGGACCGCCGGCGTCCGTGGGCTCCAAGAGGCCGGGGCCCGCGGCCCCGCGCTCGGGCCCTGGGCGGCGAGGGCGCAGCGAGGGCTGTCGCCTCCTCGGGCAGCCCGGGGGGCCGCGGCGTTGGGTCGCGGGTCCGGGGGCTGCCGTGTTCGACCGTATGCGCCGATTTGTCGCTGGGCGTCCGTTTCCTCTTGCTGGGGCTGGGCGCGGCCTCGGAGCCTGGCGGCGGTGGTGAGGGCGCACGGCCAGCTGCAGCGGCGCTGTGCTTGCCGTGGATCCAGGACACCTTAGGCTTGGTGGCGGGGTCAGGTGGCGGCGGTTTCCTGCGCTCGGGCGATGGCGACAGCGACAGGCCCCCAATCTCGCCCCGGGCCCGGGCCGGCCGGGCCTCGCGTCGGGCCACGCGCGCGTACAGAGCCCCTCCGGGCCCCTCCACGCTGGACGCCGACCGCTCGCTGTCGGAGGACGCGGGGAGGGGTATCGCCTCCTCGGCGGAGGCTGGCGTGGTCAAGGGCACAGGGGACGGCGCCGGCGCCTCGGCAGGGACAGTGGGGACTTCGGGGTCCCGGCTCTCCGCTGGTGCCTCTGGCAAGGGAAGAGCAGGGCGGTCACAGCCTTCAGGAATACCTTTAGGGGCTCCAACCTCCAGGCGCAAACCTTCACCTTTCCTCCTCTACCCACGCCCTTGGCACTGTGTCACCCTGGCATCTAGACGTGCCTGGCACAGAGCACCAACCACACATGTGTACTTCAGAGCCTCAGGCTATGCGGCTGACTCTGAACTCAGGCTGTGCAAGGAGTGATGGGCGCATTCCCGCGACTGAAGCCCAACCTTGGCCTGGCCTGGCAGCCCTGCCCCAACACCCCTCCAGCCTTGGGCGCCTGCATCATCGAATTTGAGGCTGGAACATCCCCACAGGGGTTCCATTATCCTTCTTTAAGAGAGAAGGCTTCTAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGCGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTCGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGACTGGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCCGTCTCAAAAAAAAAAAAAGAGCGATAAGGCTTCTGAGGCTCTGAGTTGGTCACCTGCCCGTGGCATCTGGGGGCACAGTCAAGGGAGGAGACAGGGCAGAATCCCAGACCATCAGGCTCCTTTCTGCTATCTGTGGATCAAAGGCTGTGTGTGGATCCAACTCCCATACTCTGTGGATCCCTTCCTCCTGTCTCCTCTGCCACCCCCTACCTAAGCCCAGAAACTTCTCTCTGCCTACTTTCCCCCAGGAGCAACCCTGGGCTGTGGCCTACCCATCTCCCCACACCTGTCTCCGGTACTGAGCAGCAGAGTCCAGCTCTATGGCCTCAGCTCTGTGGGCAACCCTCAGGTACCAGCATGGCCAAGGCCTTCCTCTCCATGCTGCCTGCCCTTCTCCTGTGTCCCACCCAGAACACAGCTTTTCCATGGGAACATTTCACTGGGCTGGAGTGATGCCCAGGTAGGGCCTTACTTACCCTCATGGGGTACACAGTACACAGGGCCTTCATCAGTGGTGTCAAACGAGGAGAAGGAGGCCCGAGAGGACCAGGATGGTGAGGGCTGCTCCAGCCCTGAGGGTGGCTCCAGGAAGCTGCAGTTGAGTGTGTTATCCAGGTCGTGGTGGGCCACTGGGGAAGGATGAGGCAGAGCTGCCAGGGGTCCACTCTGCCCCAGCCGGTGCCCTCATTAGCCCCTGCTGTGACAAATGTTGATGGGGTGACCAAGACCAGCCCTATTCTTGGACTGCAGGGGGCACAGGCAACTCAACAGGTACAGTGACACTGGGCCAGGACTGGAGAATGGGTAGAGGTGAACCCAGAAAAGAAACATGGGCACAACATGTGTTAAGGTGCAAGGCA
|
benign
| 322,601 |
For chromosome 22, position 20425741, gene SCARF2 (scavenger receptor class F member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
TGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCTGCCCCGGGCGCTCCCTCCGTCTCCCTCAACCTTCCGCAGTAGCAGGCGGGGCTGGCAGGCAGGAGAGTTTCCGGCTGAGGACAAGGAACCCGTTGAGGCAGACAGCAGGGCTCTGTGCAGCAGGAGACCGGCTTGTTTGTGCTGGAGGAGGCCCGGCTGGAGTAAGCGCCCGCGGCCCCCTGGCCGCAGCCTCTGCACCCCCCGCAAGCTGCCACCAACAGCTCTGAGGCCCAAGTTTAACAGCAGCGGCCAGGGGAAAAGGCCGGGATCCGAGGCAGGCCCATCGCCTGTCCCTTTCAGTCAGGGACTCTGCCTGATCTGCCCCCACCCAACCTTCCTCCCCGTGACCAGTCCAGAATGGGGCAGGCCAGATCGGGGCCGCATAAACTTGATAAACAAACGAAGCCTGTGGGTTGACACAGCCCACTTCCACCATGGTCCCGGGAGACCCACGCCTGGGCTCCAGGGCTCCCCGCTGAGATAAGGGGTGGGGGAGAGTGCAGGACAGGTCGTCACATAAAGTTACTTCTGGGGGGCATCTTTGGCCGAAGCCTGCAAACAGGAAGTGATCAGAGCATGAGGGGAAAGGCATTTTATTAAGAAAGCTTTGGCCAAGCCCCCGCCGGGAGGAGCCCATCCTGGGGCACCGGCCGAGGGGGGAGCAGCCCTGCTGGGGGCCTATAAATACATCTCCTCAGGCCACTAGAGTCGCCCCTGGAGGTCCCGCGGCGTGTGGGGCAGTGGGAGGCCATCAAAACCAGCTGACAGCTGAGGGGCCTGGGCCCGGGGCGCCAGGGAAGGGAAGGGGTGGGACGGACTAAGCCCCTGAGGAGCGGAGACCAGCCCTCCTCCCCAGGCTGGGGTCAACCAGATGCCCGGGAGCCTGGCCAGTGGAAGTAGCCCCGGGCTCTATTGGGACGGCCAAGGGAGGGAGCCTCCAGCCAGAGGCACCAGGCCCTAGCGGGGGAGAGGCAGCCCGGGCAGAAGTGCCTCTGGCTGCAACCAATGAGAAGGTAGCCCTAACCAAGTCCACTCCTGGCCAGTAAGAGGCGGTCTTTAAGCGGAACCCTCCCATCTTTGGCCAATGAGACGCTGTCTGGTCGGAGCGCTCCATAACTCGGCCAATGGGGAGGGAGTCGCCCGCTAAGCGCCTGTCAGGCCTCGACCAACGGGATGGGCCCTTCCCGCCAGAGCACACTGCTCCAATCCAGGAGCGGCTGCAGGACCTGAGCCAATGAGACGCAACCTCCGCTAGCCGCGCGGTGCCCGGCCAATAGGAGGCCGCCCGTGCCCGGTAGCGTGGGAGGTGTGGGGTGGCGGGCGGCGCTGCGAAGCTGAGGGAGCTGCGCGCGGACGAGCCACAGCCTGCTACAGGGTGGGTGCGCCCGCCCTGCCCAGCTCGCCCGCCGCCTCCCGGCTCTTCTTGCGCGGCGGCTTCTGGATGGGGGTCTTCTTCCGGGGGGTCTCAGGCGCGGGCAAGTCGGTCGCCGCCTTCTCAGGCCCCGGGGTTTCGGTCGCTGGGGGCGCGCGGGCGGGCGAGGCTGGCGGCACGGAGCGCTTGGCTTTCTGTGGGGGCGCCGGCTTTTCCCTGGGGCCCTGCGCGCCCAGGGCCACCTCGGCGCGGCCCAGGCTGCGAGTCTTGCCGCGCAGCTCAGCGGCCAACATGGAGGCAGCCTCGGGCGCGCTTCGCGGGGGACCGCCGGCGTCCGTGGGCTCCAAGAGGCCGGGGCCGCGGCCCCGCGCTCGGGCCCTGGGCGGCGAGGGCGCAGCGAGGGCTGTCGCCTCCTCGGGCAGCCCGGGGGGCCGCGGCGTTGGGTCGCGGGTCCGGGGGCTGCCGTGTTCGACCGTATGCGCCGATTTGTCGCTGGGCGTCCGTTTCCTCTTGCTGGGGCTGGGCGCGGCCTCGGAGCCTGGCGGCGGTGGTGAGGGCGCACGGCCAGCTGCAGCGGCGCTGTGCTTGCCGTGGATCCAGGACACCTTAGGCTTGGTGGCGGGGTCAGGTGGCGGCGGTTTCCTGCGCTCGGGCGATGGCGACAGCGACAGGCCCCCAATCTCGCCCCGGGCCCGGGCCGGCCGGGCCTCGCGTCGGGCCACGCGCGCGTACAGAGCCCCTCCGGGCCCCTCCACGCTGGACGCCGACCGCTCGCTGTCGGAGGACGCGGGGAGGGGTATCGCCTCCTCGGCGGAGGCTGGCGTGGTCAAGGGCACAGGGGACGGCGCCGGCGCCTCGGCAGGGACAGTGGGGACTTCGGGGTCCCGGCTCTCCGCTGGTGCCTCTGGCAAGGGAAGAGCAGGGCGGTCACAGCCTTCAGGAATACCTTTAGGGGCTCCAACCTCCAGGCGCAAACCTTCACCTTTCCTCCTCTACCCACGCCCTTGGCACTGTGTCACCCTGGCATCTAGACGTGCCTGGCACAGAGCACCAACCACACATGTGTACTTCAGAGCCTCAGGCTATGCGGCTGACTCTGAACTCAGGCTGTGCAAGGAGTGATGGGCGCATTCCCGCGACTGAAGCCCAACCTTGGCCTGGCCTGGCAGCCCTGCCCCAACACCCCTCCAGCCTTGGGCGCCTGCATCATCGAATTTGAGGCTGGAACATCCCCACAGGGGTTCCATTATCCTTCTTTAAGAGAGAAGGCTTCTAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGCGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTCGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGACTGGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCCGTCTCAAAAAAAAAAAAAGAGCGATAAGGCTTCTGAGGCTCTGAGTTGGTCACCTGCCCGTGGCATCTGGGGGCACAGTCAAGGGAGGAGACAGGGCAGAATCCCAGACCATCAGGCTCCTTTCTGCTATCTGTGGATCAAAGGCTGTGTGTGGATCCAACTCCCATACTCTGTGGATCCCTTCCTCCTGTCTCCTCTGCCACCCCCTACCTAAGCCCAGAAACTTCTCTCTGCCTACTTTCCCCCAGGAGCAACCCTGGGCTGTGGCCTACCCATCTCCCCACACCTGTCTCCGGTACTGAGCAGCAGAGTCCAGCTCTATGGCCTCAGCTCTGTGGGCAACCCTCAGGTACCAGCATGGCCAAGGCCTTCCTCTCCATGCTGCCTGCCCTTCTCCTGTGTCCCACCCAGAACACAGCTTTTCCATGGGAACATTTCACTGGGCTGGAGTGATGCCCAGGTAGGGCCTTACTTACCCTCATGGGGTACACAGTACACAGGGCCTTCATCAGTGGTGTCAAACGAGGAGAAGGAGGCCCGAGAGGACCAGGATGGTGAGGGCTGCTCCAGCCCTGAGGGTGGCTCCAGGAAGCTGCAGTTGAGTGTGTTATCCAGGTCGTGGTGGGCCACTGGGGAAGGATGAGGCAGAGCTGCCAGGGGTCCACTCTGCCCCAGCCGGTGCCCTCATTAGCCCCTGCTGTGACAAATGTTGATGGGGTGACCAAGACCAGCCCTATTCTTGGACTGCAGGGGGCACAGGCAACTCAACAGGTACAGTGACACTGGGCCAGGACTGGAGAATGGGTAGAGGTGAACCCAGAAAAGAAACATGGGCACAACATGTGTTAAGGTGCAAGGCAAGTGTGT
|
TGGCGGCTGCAGGGTGATCAGAAGATCCTGGCAGCAGGGGAAGACTTTGAGCTGGGCATCAAAAGATGAGATGCAGGAGAACAAGAAGAGGCCTGCCGGGCAGAGGCAGGAGGTGGGAGGAGAACAGACAGGCAGGAGCTGGGGGAACTTAGTGTGGGGACAGCAGGGGCCATGGAAGGTGAGGGTCTGCGGCTTAGGAGGGTCACTTAGGAGGCCTGCCCGGGAGGGTAGGCGGGTCAGGAGCAGCGAGGCCGTAGGGCACAGATGGTCACAGATAGCCAGGCAGCCGGGTCTGGCTTGGGGGCAGGGGATCTGCCCCGGGCGCTCCCTCCGTCTCCCTCAACCTTCCGCAGTAGCAGGCGGGGCTGGCAGGCAGGAGAGTTTCCGGCTGAGGACAAGGAACCCGTTGAGGCAGACAGCAGGGCTCTGTGCAGCAGGAGACCGGCTTGTTTGTGCTGGAGGAGGCCCGGCTGGAGTAAGCGCCCGCGGCCCCCTGGCCGCAGCCTCTGCACCCCCCGCAAGCTGCCACCAACAGCTCTGAGGCCCAAGTTTAACAGCAGCGGCCAGGGGAAAAGGCCGGGATCCGAGGCAGGCCCATCGCCTGTCCCTTTCAGTCAGGGACTCTGCCTGATCTGCCCCCACCCAACCTTCCTCCCCGTGACCAGTCCAGAATGGGGCAGGCCAGATCGGGGCCGCATAAACTTGATAAACAAACGAAGCCTGTGGGTTGACACAGCCCACTTCCACCATGGTCCCGGGAGACCCACGCCTGGGCTCCAGGGCTCCCCGCTGAGATAAGGGGTGGGGGAGAGTGCAGGACAGGTCGTCACATAAAGTTACTTCTGGGGGGCATCTTTGGCCGAAGCCTGCAAACAGGAAGTGATCAGAGCATGAGGGGAAAGGCATTTTATTAAGAAAGCTTTGGCCAAGCCCCCGCCGGGAGGAGCCCATCCTGGGGCACCGGCCGAGGGGGGAGCAGCCCTGCTGGGGGCCTATAAATACATCTCCTCAGGCCACTAGAGTCGCCCCTGGAGGTCCCGCGGCGTGTGGGGCAGTGGGAGGCCATCAAAACCAGCTGACAGCTGAGGGGCCTGGGCCCGGGGCGCCAGGGAAGGGAAGGGGTGGGACGGACTAAGCCCCTGAGGAGCGGAGACCAGCCCTCCTCCCCAGGCTGGGGTCAACCAGATGCCCGGGAGCCTGGCCAGTGGAAGTAGCCCCGGGCTCTATTGGGACGGCCAAGGGAGGGAGCCTCCAGCCAGAGGCACCAGGCCCTAGCGGGGGAGAGGCAGCCCGGGCAGAAGTGCCTCTGGCTGCAACCAATGAGAAGGTAGCCCTAACCAAGTCCACTCCTGGCCAGTAAGAGGCGGTCTTTAAGCGGAACCCTCCCATCTTTGGCCAATGAGACGCTGTCTGGTCGGAGCGCTCCATAACTCGGCCAATGGGGAGGGAGTCGCCCGCTAAGCGCCTGTCAGGCCTCGACCAACGGGATGGGCCCTTCCCGCCAGAGCACACTGCTCCAATCCAGGAGCGGCTGCAGGACCTGAGCCAATGAGACGCAACCTCCGCTAGCCGCGCGGTGCCCGGCCAATAGGAGGCCGCCCGTGCCCGGTAGCGTGGGAGGTGTGGGGTGGCGGGCGGCGCTGCGAAGCTGAGGGAGCTGCGCGCGGACGAGCCACAGCCTGCTACAGGGTGGGTGCGCCCGCCCTGCCCAGCTCGCCCGCCGCCTCCCGGCTCTTCTTGCGCGGCGGCTTCTGGATGGGGGTCTTCTTCCGGGGGGTCTCAGGCGCGGGCAAGTCGGTCGCCGCCTTCTCAGGCCCCGGGGTTTCGGTCGCTGGGGGCGCGCGGGCGGGCGAGGCTGGCGGCACGGAGCGCTTGGCTTTCTGTGGGGGCGCCGGCTTTTCCCTGGGGCCCTGCGCGCCCAGGGCCACCTCGGCGCGGCCCAGGCTGCGAGTCTTGCCGCGCAGCTCAGCGGCCAACATGGAGGCAGCCTCGGGCGCGCTTCGCGGGGGACCGCCGGCGTCCGTGGGCTCCAAGAGGCCGGGGCCGCGGCCCCCGCGCTCGGGCCCTGGGCGGCGAGGGCGCAGCGAGGGCTGTCGCCTCCTCGGGCAGCCCGGGGGGCCGCGGCGTTGGGTCGCGGGTCCGGGGGCTGCCGTGTTCGACCGTATGCGCCGATTTGTCGCTGGGCGTCCGTTTCCTCTTGCTGGGGCTGGGCGCGGCCTCGGAGCCTGGCGGCGGTGGTGAGGGCGCACGGCCAGCTGCAGCGGCGCTGTGCTTGCCGTGGATCCAGGACACCTTAGGCTTGGTGGCGGGGTCAGGTGGCGGCGGTTTCCTGCGCTCGGGCGATGGCGACAGCGACAGGCCCCCAATCTCGCCCCGGGCCCGGGCCGGCCGGGCCTCGCGTCGGGCCACGCGCGCGTACAGAGCCCCTCCGGGCCCCTCCACGCTGGACGCCGACCGCTCGCTGTCGGAGGACGCGGGGAGGGGTATCGCCTCCTCGGCGGAGGCTGGCGTGGTCAAGGGCACAGGGGACGGCGCCGGCGCCTCGGCAGGGACAGTGGGGACTTCGGGGTCCCGGCTCTCCGCTGGTGCCTCTGGCAAGGGAAGAGCAGGGCGGTCACAGCCTTCAGGAATACCTTTAGGGGCTCCAACCTCCAGGCGCAAACCTTCACCTTTCCTCCTCTACCCACGCCCTTGGCACTGTGTCACCCTGGCATCTAGACGTGCCTGGCACAGAGCACCAACCACACATGTGTACTTCAGAGCCTCAGGCTATGCGGCTGACTCTGAACTCAGGCTGTGCAAGGAGTGATGGGCGCATTCCCGCGACTGAAGCCCAACCTTGGCCTGGCCTGGCAGCCCTGCCCCAACACCCCTCCAGCCTTGGGCGCCTGCATCATCGAATTTGAGGCTGGAACATCCCCACAGGGGTTCCATTATCCTTCTTTAAGAGAGAAGGCTTCTAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGCGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTCGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGACTGGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCCGTCTCAAAAAAAAAAAAAGAGCGATAAGGCTTCTGAGGCTCTGAGTTGGTCACCTGCCCGTGGCATCTGGGGGCACAGTCAAGGGAGGAGACAGGGCAGAATCCCAGACCATCAGGCTCCTTTCTGCTATCTGTGGATCAAAGGCTGTGTGTGGATCCAACTCCCATACTCTGTGGATCCCTTCCTCCTGTCTCCTCTGCCACCCCCTACCTAAGCCCAGAAACTTCTCTCTGCCTACTTTCCCCCAGGAGCAACCCTGGGCTGTGGCCTACCCATCTCCCCACACCTGTCTCCGGTACTGAGCAGCAGAGTCCAGCTCTATGGCCTCAGCTCTGTGGGCAACCCTCAGGTACCAGCATGGCCAAGGCCTTCCTCTCCATGCTGCCTGCCCTTCTCCTGTGTCCCACCCAGAACACAGCTTTTCCATGGGAACATTTCACTGGGCTGGAGTGATGCCCAGGTAGGGCCTTACTTACCCTCATGGGGTACACAGTACACAGGGCCTTCATCAGTGGTGTCAAACGAGGAGAAGGAGGCCCGAGAGGACCAGGATGGTGAGGGCTGCTCCAGCCCTGAGGGTGGCTCCAGGAAGCTGCAGTTGAGTGTGTTATCCAGGTCGTGGTGGGCCACTGGGGAAGGATGAGGCAGAGCTGCCAGGGGTCCACTCTGCCCCAGCCGGTGCCCTCATTAGCCCCTGCTGTGACAAATGTTGATGGGGTGACCAAGACCAGCCCTATTCTTGGACTGCAGGGGGCACAGGCAACTCAACAGGTACAGTGACACTGGGCCAGGACTGGAGAATGGGTAGAGGTGAACCCAGAAAAGAAACATGGGCACAACATGTGTTAAGGTGCAAGGCAAGTGTG
|
benign
| 322,602 |
Evaluate this variant at chromosome 22, position 20709921, gene PI4KA (phosphatidylinositol 4-kinase alpha): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis', 'Spastic_paraplegia_84,_autosomal_recessive']
|
GGCGTTACCAAGGCTGCGCCACCCACGTGCTGCCCCAGGAGGCGCTACCAGGTTCTTTGGGCCACAGGCCTCTCCTCCACTGCATGTGGCGGCAGGGCAGGGAGGTCGCAGGGCTCCATGATTGTGGGACAGCTTTGAGGGCACATGGGGCAGAGGCCCTCGAAGGTCCCCTCCTCAGTAGGGGATGTCATTCTGATAGTACTGGATCATGTCGTAGGTCCGGCTCCTGAAAGGCCAAGGAAGAGTGAAGGGAGATTCGAGGAGCCAGCAGGGTCTGGGGTCCCTCCCCACAGGGAGCCCTACCTGTCCAATCAGCCCCTTATGGCTGCCCAGCACCTGAAGGTACAAATGTCCCAGGCGTGCCCTCCCCCACCCAGTGACCACATCTCCTGCTCCAACCCGGGGGACTCCGAGGCCACCTCATGCTCCTCAGCCAAACCGCTTCCATCCGTGGGAGCCACTGCTCTGCCCCATGGGACTCGGGCCCCTTGGCTCGTCCTGGCCAGATGCCTCCAAGGGGTCTGTACGCTCTCCTCGCACCTCTGGAGAGCCCCTTCTCGCCCTGCCCCAGCCCCTCTTGAGGTCCTGGCCGCCTGGCTTCTCTGCTTCCTATCAGCAAGAGCTCCTTCCGTGCCCAGCCTCCACAGTGCCCTTGTTAGGGTGCCGGACCCGGGCGCCACCTGGGGGCAGGTCTCAGCTTCCTCTCACGCTCCTCCGGCAGTTCCCCATGCAGATGGCCACACCTGGGCCCCTCCTCCTAGTCTGTGAATGTGGTCTGTCCCATGGCACAGCCTTGGGCTCCCACATGCCCCTCAGGGCCTTACCAACCCCACATGTTTAAGTGCTGCCCCCTTCGGGGATGGCTCACTTGCTGGGATCGCCATCCTCCCTTTGTTCAGGCCGGACCCCTCAAAGCCACCTCTGACTCCCACAGCAGGGAGCCTGTCAGCCCGGTGCTCTGCCTTCAGACCCTGAGCCAGCCCTCCCCAGGGCCCCCTGCACCCATCTCCTCCCACCACAGTAGTGACCAGCAGCCCGGCCTGCACCTCCAGTCACTGCCCACGAAGCAGCCCGAGGCAGGCGCAGGGAAGGAGTGGGCTCTGACTCCTCAGCCCTCCTGGGAGGAGGGAGGCCTGACACCACACTCAGTTCTAATACTCCTGGCCTTGTGTCCCTATTGCTCCTTCGGCCTCACGAGCCCTGCCCAGGTGGGCCCGGCCTCTGCCAAGTGTTCCCCTCGGCACACCACAGCCCCCTAAACCAGCACCCCACTGCTCCTCAAGAGCTCCTGTCAAGACTTGGGTCTTCATGAGAGGGGCGGCTTGGGGACAGCAGAATCCTCATCGCCTGGTGCAGGCAAGGCCCTGCAGGTGCCCAGTGGCCACCGAGGCAGTGGGAGAAGGCAGGGGGGCGGGGCACTCACCTGTTGCTGAGGAAGCAGCTCTGGATGACCTTCATGATGAAATTTGCAGCCTCGCGCTCAGTCATGTTGGGGCTAAACCTGTGCCTGGGGGAGAGGCTGTGTCAGGGCTGCCATGGGCAGGGCCGTGCTGGCTCCCTGGCCCAGTGGGAGGAGGGTCTTCCATGGGGACGGACTTCAGCTGAGAGCCACGCCCTGGAAATGTACCTTTGGGGTCCACATGTTGGAAGATGGGGTGCTGTGAAGGCCACGCCTGGCCTATCATGGGCCCTGTCCCCTTCCCAGCATCACCTGAGTGGCCCCATGGCATTAGGGGACTAAGCATTGGGGAGCTAAGCTACTGCAGCCCCAGACCTTAGGGTGGAGGTGGGTTGGGCGTAGCATCCTTGACATAAAGAGGCCCCTGGGTGGGTCTCTGGTGTGGCCGGCACAAGCAGGGGCCCCTCACAGTTGTGGTCTAGGGGCAGAGCCTCACCCAAGAACCCTGTCTGCTCTGAGGTTCCAAGGAGATGACAACCACAGTGACAATTACATGAAAGGTACCTATCTTGGATGGAGCCTCAGCTAATGGACAACTGTCCCCCAGATGGCCTGCGTGTCCACCAAGGAACCTACTTCAAGAGCTTGATTGTCTGGCCGCGAAAACAGGGCAGGCCCGTGTCCAACATGAGAGTGACCAGGGAGACGACCGCGTCCATGTAGGGCCTGGGGAGAGATAGGAGGGAGCGGTGGGCTGAGGCCAGCCTAGGTGGTGGCCCTGCCTGTAGTCCTGTGGACTGGCTGATGCCAACAGCCTCAGGTGTGGGCTCCTGCCACCCACCTCGCCTGCCACATCTTGCACATCCCCGAGGCAACTTTCGATCTGCTGCACTTGGTAACCCATACCGCCCAGGCAAGGGCTGCCCACACGCACTCTGGACAGGCTGAGTGTCCTGCCCTGTCCCCCACATAAGGCTGCCGGCCATGGCTTCTGCACTTGGGTGGGATGCAGACACGCTGACCTGCCTTTCTCTGCAGGGCAGTGGGGATGAACCCAGGTTGGACTGTGGCCTTGGCCAAGTGACCTGTATATGAAACTGGGACAAAGCCCATCTTTGGCACGTAGCCTGTGGGGTGGCAGGTGCTCAGGCTTTGGTGACAGGGTGGATGGGATGCCCAGAAAGGGAGAGCCCATGGCTGAAGGCGTGGGCAGGATCGTGGGGAAGGTGGTTGGAATTAGATGTCCAGAGCAAGAATTTACTGGCACAGGTGGGCAGACAGAGGTGACCAAAGGACAGGTGTAGGTCAGCAGGTGGCTGCTAGCACCTACCTCACTCTCTGGAACCGGATTCCCTTCATCCTAAAGGGGATCTCAGAACGTTCCACACACCCCCTCCGCCTCCACCCTGGCCCTCACCCAGGCTCACCGCACAGCCAGGTAGCCTCGGACACACATCTCCATGAACCACTTGAAGGGTGTGGCCTCCATCTTGCCCCCCATGATCATCACCATCTCATCCGTCAGCTTGATGTCGGGTTCCCAGCCGAGATTGCCGCCCGGCGAGCTTTCAAACATGAAGCCAAAGTCTGCAAAACCCCAAAGAGCTGCCTGTGACTGGGTAGGAGCCAGGGCGGGCAAGGACAAGTGGTCTGTTTTGAGGAGTGGAAAAGGACTGCAACAGGAGCACCCCCTCCACCCCCAACAGGCAGGTTGTGTTTTCTTGGAGACAGTGATGGGGTGGGTGGTGGGGCAGCAGGCAGAGAAAGAGAAGGGAGGAAGTGGAGGAAGGAGCCAAGCTGGGGCACTGAACCTGGACCAGCCCCACTCCGCCCAGCTCCAGCTTCTGACTCAGAGCAATGGCGGCTCTCGCCCTAGCTCCCTGGGGCCGGGGCCAGGCACCCTCTACAGCAGAACAGCTTGGTGGCCGACAGTTCGGACCTCAGAGCTGGACCCTGACACTCCTGGCAGGGTGGTCCTGGGCATTCTCCTCTCTGTGGGGTGGGGATCCCTATCCACCCCTGGGTGCCAGGGGTGAAGGGAGAGGAGGGTGGCGCTGTGGCTGGCTGACCGATGTGGATGATATGACCCTTCTTGTCCAGCATAATGTTGCCGTTGTGTCTGTCCTTGATCTGCAGCAGGAACAGCAGGAGGCTGTAGGCGGCCATGCTTCGGATGAAGTTGTAGCGGGCCTGTGCAGAGAGCGCCCTGGGCTCAAAAAGGCCCTGGGGCCTGTGGGCATTCTCCCTGGTCCCACACCCAGGATCCCTGGGCCTGTGGGCACTCTCCCTGGCTCTGTACCCCCACTGTGGAAGCAGAGCCCGAATCAGCAAGCCAGTCTTCGGTAGCAGGAGTGACAGGGGCTCTCTGTGGAAGTGGGCGTGCAGGCACTTCCTCCCACACTCAGAACTTAACTTTCTTCTAAGGAGTCCAACCCAGCCCTACATTCTTTTGACTCCCAAAGTGGCTTACAGATGCCCTGGTGTTTTTTTTTTAAATGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGTTAATTTTTTTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGATGGTCTCGATC
|
GGCGTTACCAAGGCTGCGCCACCCACGTGCTGCCCCAGGAGGCGCTACCAGGTTCTTTGGGCCACAGGCCTCTCCTCCACTGCATGTGGCGGCAGGGCAGGGAGGTCGCAGGGCTCCATGATTGTGGGACAGCTTTGAGGGCACATGGGGCAGAGGCCCTCGAAGGTCCCCTCCTCAGTAGGGGATGTCATTCTGATAGTACTGGATCATGTCGTAGGTCCGGCTCCTGAAAGGCCAAGGAAGAGTGAAGGGAGATTCGAGGAGCCAGCAGGGTCTGGGGTCCCTCCCCACAGGGAGCCCTACCTGTCCAATCAGCCCCTTATGGCTGCCCAGCACCTGAAGGTACAAATGTCCCAGGCGTGCCCTCCCCCACCCAGTGACCACATCTCCTGCTCCAACCCGGGGGACTCCGAGGCCACCTCATGCTCCTCAGCCAAACCGCTTCCATCCGTGGGAGCCACTGCTCTGCCCCATGGGACTCGGGCCCCTTGGCTCGTCCTGGCCAGATGCCTCCAAGGGGTCTGTACGCTCTCCTCGCACCTCTGGAGAGCCCCTTCTCGCCCTGCCCCAGCCCCTCTTGAGGTCCTGGCCGCCTGGCTTCTCTGCTTCCTATCAGCAAGAGCTCCTTCCGTGCCCAGCCTCCACAGTGCCCTTGTTAGGGTGCCGGACCCGGGCGCCACCTGGGGGCAGGTCTCAGCTTCCTCTCACGCTCCTCCGGCAGTTCCCCATGCAGATGGCCACACCTGGGCCCCTCCTCCTAGTCTGTGAATGTGGTCTGTCCCATGGCACAGCCTTGGGCTCCCACATGCCCCTCAGGGCCTTACCAACCCCACATGTTTAAGTGCTGCCCCCTTCGGGGATGGCTCACTTGCTGGGATCGCCATCCTCCCTTTGTTCAGGCCGGACCCCTCAAAGCCACCTCTGACTCCCACAGCAGGGAGCCTGTCAGCCCGGTGCTCTGCCTTCAGACCCTGAGCCAGCCCTCCCCAGGGCCCCCTGCACCCATCTCCTCCCACCACAGTAGTGACCAGCAGCCCGGCCTGCACCTCCAGTCACTGCCCACGAAGCAGCCCGAGGCAGGCGCAGGGAAGGAGTGGGCTCTGACTCCTCAGCCCTCCTGGGAGGAGGGAGGCCTGACACCACACTCAGTTCTAATACTCCTGGCCTTGTGTCCCTATTGCTCCTTCGGCCTCACGAGCCCTGCCCAGGTGGGCCCGGCCTCTGCCAAGTGTTCCCCTCGGCACACCACAGCCCCCTAAACCAGCACCCCACTGCTCCTCAAGAGCTCCTGTCAAGACTTGGGTCTTCATGAGAGGGGCGGCTTGGGGACAGCAGAATCCTCATCGCCTGGTGCAGGCAAGGCCCTGCAGGTGCCCAGTGGCCACCGAGGCAGTGGGAGAAGGCAGGGGGGCGGGGCACTCACCTGTTGCTGAGGAAGCAGCTCTGGATGACCTTCATGATGAAATTTGCAGCCTCGCGCTCAGTCATGTTGGGGCTAAACCTGTGCCTGGGGGAGAGGCTGTGTCAGGGCTGCCATGGGCAGGGCCGTGCTGGCTCCCTGGCCCAGTGGGAGGAGGGTCTTCCATGGGGACGGACTTCAGCTGAGAGCCACGCCCTGGAAATGTACCTTTGGGGTCCACATGTTGGAAGATGGGGTGCTGTGAAGGCCACGCCTGGCCTATCATGGGCCCTGTCCCCTTCCCAGCATCACCTGAGTGGCCCCATGGCATTAGGGGACTAAGCATTGGGGAGCTAAGCTACTGCAGCCCCAGACCTTAGGGTGGAGGTGGGTTGGGCGTAGCATCCTTGACATAAAGAGGCCCCTGGGTGGGTCTCTGGTGTGGCCGGCACAAGCAGGGGCCCCTCACAGTTGTGGTCTAGGGGCAGAGCCTCACCCAAGAACCCTGTCTGCTCTGAGGTTCCAAGGAGATGACAACCACAGTGACAATTACATGAAAGGTACCTATCTTGGATGGAGCCTCAGCTAATGGACAACTGTCCCCCAGATGGCCTGCGTGTCCACCAAGGAACCTACTTCAAGAGCTTGATTGGCCGCGAAAACAGGGCAGGCCCGTGTCCAACATGAGAGTGACCAGGGAGACGACCGCGTCCATGTAGGGCCTGGGGAGAGATAGGAGGGAGCGGTGGGCTGAGGCCAGCCTAGGTGGTGGCCCTGCCTGTAGTCCTGTGGACTGGCTGATGCCAACAGCCTCAGGTGTGGGCTCCTGCCACCCACCTCGCCTGCCACATCTTGCACATCCCCGAGGCAACTTTCGATCTGCTGCACTTGGTAACCCATACCGCCCAGGCAAGGGCTGCCCACACGCACTCTGGACAGGCTGAGTGTCCTGCCCTGTCCCCCACATAAGGCTGCCGGCCATGGCTTCTGCACTTGGGTGGGATGCAGACACGCTGACCTGCCTTTCTCTGCAGGGCAGTGGGGATGAACCCAGGTTGGACTGTGGCCTTGGCCAAGTGACCTGTATATGAAACTGGGACAAAGCCCATCTTTGGCACGTAGCCTGTGGGGTGGCAGGTGCTCAGGCTTTGGTGACAGGGTGGATGGGATGCCCAGAAAGGGAGAGCCCATGGCTGAAGGCGTGGGCAGGATCGTGGGGAAGGTGGTTGGAATTAGATGTCCAGAGCAAGAATTTACTGGCACAGGTGGGCAGACAGAGGTGACCAAAGGACAGGTGTAGGTCAGCAGGTGGCTGCTAGCACCTACCTCACTCTCTGGAACCGGATTCCCTTCATCCTAAAGGGGATCTCAGAACGTTCCACACACCCCCTCCGCCTCCACCCTGGCCCTCACCCAGGCTCACCGCACAGCCAGGTAGCCTCGGACACACATCTCCATGAACCACTTGAAGGGTGTGGCCTCCATCTTGCCCCCCATGATCATCACCATCTCATCCGTCAGCTTGATGTCGGGTTCCCAGCCGAGATTGCCGCCCGGCGAGCTTTCAAACATGAAGCCAAAGTCTGCAAAACCCCAAAGAGCTGCCTGTGACTGGGTAGGAGCCAGGGCGGGCAAGGACAAGTGGTCTGTTTTGAGGAGTGGAAAAGGACTGCAACAGGAGCACCCCCTCCACCCCCAACAGGCAGGTTGTGTTTTCTTGGAGACAGTGATGGGGTGGGTGGTGGGGCAGCAGGCAGAGAAAGAGAAGGGAGGAAGTGGAGGAAGGAGCCAAGCTGGGGCACTGAACCTGGACCAGCCCCACTCCGCCCAGCTCCAGCTTCTGACTCAGAGCAATGGCGGCTCTCGCCCTAGCTCCCTGGGGCCGGGGCCAGGCACCCTCTACAGCAGAACAGCTTGGTGGCCGACAGTTCGGACCTCAGAGCTGGACCCTGACACTCCTGGCAGGGTGGTCCTGGGCATTCTCCTCTCTGTGGGGTGGGGATCCCTATCCACCCCTGGGTGCCAGGGGTGAAGGGAGAGGAGGGTGGCGCTGTGGCTGGCTGACCGATGTGGATGATATGACCCTTCTTGTCCAGCATAATGTTGCCGTTGTGTCTGTCCTTGATCTGCAGCAGGAACAGCAGGAGGCTGTAGGCGGCCATGCTTCGGATGAAGTTGTAGCGGGCCTGTGCAGAGAGCGCCCTGGGCTCAAAAAGGCCCTGGGGCCTGTGGGCATTCTCCCTGGTCCCACACCCAGGATCCCTGGGCCTGTGGGCACTCTCCCTGGCTCTGTACCCCCACTGTGGAAGCAGAGCCCGAATCAGCAAGCCAGTCTTCGGTAGCAGGAGTGACAGGGGCTCTCTGTGGAAGTGGGCGTGCAGGCACTTCCTCCCACACTCAGAACTTAACTTTCTTCTAAGGAGTCCAACCCAGCCCTACATTCTTTTGACTCCCAAAGTGGCTTACAGATGCCCTGGTGTTTTTTTTTTAAATGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGTTAATTTTTTTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGATGGTCTCGATCNNNN
|
pathogenic
| 322,628 |
Does the genetic variant at chromosome 22, position 20726433, impacting gene PI4KA (phosphatidylinositol 4-kinase alpha), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
CACCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAAATAAGCCGGGCGTGGTGGCATGCACCTTCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAATCTGGGAGGCAGAGGCTGCAAGGAGCCGAGAATGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCTGTCTAAAACAAAACAAAACGAACAAAAAAAAATTCCCTAAAAATGGAAAGCAAGAAAGAAACCAGTGAAACTAGCTGAGTCCTGAGTTGGTACAACCACACACAGAAGAATCATTTCAGGCGGCCTTTCTCTGGTAGCCACCACCAAGAGTTCACACGGAGGCCCTGGGTACTGGCTCCCCTCCCCACTGCCTCTGGATCTCACCCTTATGCTAGGCCTGTATGCAAGCAGAGAGCCAAGCAGTCAAGGGAAAATAATGTGGGAGGGGAGCCAGGGGGAAGGAAACAGGTTGCTGAAGAGAAGGTGCCTCATGACAATCCTGTAAGTTGCCACCAGTGTGAAGGCTCCGGCTTGGTGAGTGTGGCTCCACACATATCACCACTCAGAGGCGCAGAGAGTGTGGCACTACCTAGTGAGGGCAGTGAATGATTCCACAGGACTCAGTCTTTCAGCAGAGGCTGGCTGCTGTTCTAGAAGCACTTTGGTCTACAGACTCCAAGGCTAGCCCCTGGGACACCCAGCCATGTAACTCAGCCAGCCCACAGGTGGGCCAGAGTGGTGAGGACTCAGCCAGGACACATGGAGTCTGCTGCCCAATTCATCCAGGGAAATGAGGTCAGCCCTGGGGTTGGGGAATAGGGCAGACAAGCTGCACTCAGACACAGGGTGCAGTGGGCAGGCTGGCGCGAGGGCAGAGGCGGCTCGGGCTCCTGGCTGTGGTCATTCCCATGGATATTTTCTGTGCCATGACCTGTGCTGAGCACTTTATGTCCATGGATACTGTTACGGGCTGAACTGTGTCCCTTCAAATTCATATGTTACAGGACCTCAGAATGGTACTGTATTTGGAGATAGGGTCTTTATAGAGATGATTAAGGTAAAATGAGGTCAATAGGGTGGGTCCTAATCTAGTATGACAGGTGTTCTTATAAGGGGAGATTAGGACACAGACACACACAAAAGGATGACCCTGTAAGGACTCAGGGAGAAGATGGCTATCAATAAGCCAGGGAGATGGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTTGGAGGCGGAGGTGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGACAACATAGCGAAACTCCATCTCTACAAAAAATACAAAAATTAGCTGGGCGTGGTCGCACACGCCTGTCATCCCAGTTACTTGGGAGGGGTAGCGGGGAAGGTGCTGAGGTGGGAGGATAGCTTGAGCCCGAGAGGTTGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCTAGCCTGAGTGACAGAGCGAGACCCTGTCTCTTAAAAAAAAAAAAAAAGCCAGGGAGACAGGCCTCAGAAGGAAACAACCCTGTTCGAACAATGACCTTGGACTTCTGGCCTCCAGAATTCATGTTTTTTGTTTGTTTGTTTGTTTTGTTTTTTGGCCTCCACAATTCTGAGAATGAGAATAGACATTTCTGTCGTTTAAGCTGCCCAGTCTGTGGTGCTTCGCTATGCAGCCCTGGCAGACTAATGCATATGTCATCTCGTTAATTTTCCTCACCACTTCCGGCTGAAGAGGGCAGGATTCAGGGATTTGAGGGGACCCCACCGATGAGAGGGAAGCCTGGCCAGGCTGCCTAGCCAGGCTGGCAACAGCCCCAGAACCGGCTCGCTCCACAGAGCATGCTTGGGCCTCAGGGTGAGGCAGTGGGTGAACATGGGTATCAAGGGACAATCACAGGGCCTGGGGTAGGGGGAGCAAGGGGACTGCTGGGCAGCCCTGCCCCTGAGGAGGCTCTGAGGAGCCTGTGAGGGCTGGGGACAGACCGGGCACAAGCTGGTGTGGAACACACTCTGTGAGTGAAGAGGACGGCCATGCAGGTGCAGGCTTACCTTGTCGTACCTGAGGGCCTGCACAATCTGGGGGATGTAGAAGAGGATGGCGTCCTGTGGAGGTGGAGCAGAGTTGGCCATGACTTCTGAGAGCAGAGCCACCCAACCCTACGGCCCAGGCCCTGCCTCTGCTTCTGCTCTGCCCACAGCAGGGCTGAGAACTGGGGAAAGCCCAGAGGATGGCAGGCAAAATGACCGATGGCTCAGAACACAGGAATGGAGGAAACAGGTAAAAGGAGCAAGGCTCCCGCTCTACAGCGGGCGAGGGCCTCGTGCTCCTCACTAGGGAGCCTGCCTCAGGGAATGGTCTGCTGTGGGTCAGACTCTAGAATATTCCAGAGACCCTTCTCCACCATCATCATGGCTATCTCGTGGGCTCCCTGGGCTCCCACAAGGAGTGAGGGACCCTCCACGGGTGAGGTCACTGTGGGGTTCCAAGGCACAGCTAGCTGCACTGCTGTGTGGGGTGTGCACAGCTGCCGCGCCGCCTCGTAATCAAACTCAAGTTAACTTTATGTCTTTAACTCAAACGCCTCACTAGATTAAAAAACAAATGTAACTAGAGAACACATTTGAATTAGAACTAAATCCATCTTCTACAACTACTTGAGCAAAAAACAGGGAAAGGACCAGTATGTAACGGGGCGACCTCATGGCCAATGGTGGGGCCTGTGCCTCTCACCAGGTAAGACCCCTCCCAACAGTCCTACCAGAGGCCAGCTCAGCAGGGCCCTGGGCTCACCGGAGGGAAGGACCGCAGGACTTTCACCCCGTACTGCGCCGTGAGAGGGTGCGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAACAAAATAAATGCTACAGACAAGAAATAGAAAACACAGGAAATCAGAAAAACCATGAATAGCACTGAAGTTGCCAAGCGGCTGTTTTTGTCTCATTTCTAGTTTCAGGCATTTCTGGGTGCAGTGTGCTATTTTGTGCAGTTTGAACTCAGGCCCTGGTACGTGGGCTACACTACCTTGATTGCTTCAGGCACATCACTAACGGCTCCCGGGTCCAACCGAACGAGACGGGTCACTTCGTTCCCAATGGCTTCTGTGTTCTTAAACCTACAGTGCACAGAGGGTATGGGTGGTGCTGCCTCGCCAGGGAACCTGCACTCTCCCACCACACTGGAGTGAGGGGAGCCAGGGGGAAACACTGAACTGGAGGGATTCACATCAATACCAAGTGACGGCTTGGGTACAAACAAATAGAAAGAATGAAGACCTGCTATTTGATAGCACAACAGGGGGACTACAGCCAATAATAACTTAATTGTATATTGAAAAATAACTTTAAAAGAGTGTAACTGGATTGTTTGTAACTCCAAGGACAAATGCTTGAGGGGATGGATACCCCATTCTCCAAGATGTGCTTATTTCACGTTGCATGCCTGTATCAAAACATCTCATGCACCTCATAAATACAGACATCTACTACATATGCACAGAAATTTAAAAAAAAAGTTTAAATAAAAAAATGTTTAGCCAGGTGACGGCTAAATGTTCTATTATGCCACTAACTAGTAGGTCTGAACATTAGTGTTTTTTAAAAAGAGGATTATAATCTGCTGTGATGAAATGCTGGAACTTTCTTAAAGAAACAGGAATTTTTCTACACTTAACTGTTTAAAGGGCTTCCTTTCACCATCCTTGTCTTAAAACCCCTGCCTCTTACTCCTTT
|
CACCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCCACTAAAAATACAAAAAATAAGCCGGGCGTGGTGGCATGCACCTTCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAATCTGGGAGGCAGAGGCTGCAAGGAGCCGAGAATGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCTGTCTAAAACAAAACAAAACGAACAAAAAAAAATTCCCTAAAAATGGAAAGCAAGAAAGAAACCAGTGAAACTAGCTGAGTCCTGAGTTGGTACAACCACACACAGAAGAATCATTTCAGGCGGCCTTTCTCTGGTAGCCACCACCAAGAGTTCACACGGAGGCCCTGGGTACTGGCTCCCCTCCCCACTGCCTCTGGATCTCACCCTTATGCTAGGCCTGTATGCAAGCAGAGAGCCAAGCAGTCAAGGGAAAATAATGTGGGAGGGGAGCCAGGGGGAAGGAAACAGGTTGCTGAAGAGAAGGTGCCTCATGACAATCCTGTAAGTTGCCACCAGTGTGAAGGCTCCGGCTTGGTGAGTGTGGCTCCACACATATCACCACTCAGAGGCGCAGAGAGTGTGGCACTACCTAGTGAGGGCAGTGAATGATTCCACAGGACTCAGTCTTTCAGCAGAGGCTGGCTGCTGTTCTAGAAGCACTTTGGTCTACAGACTCCAAGGCTAGCCCCTGGGACACCCAGCCATGTAACTCAGCCAGCCCACAGGTGGGCCAGAGTGGTGAGGACTCAGCCAGGACACATGGAGTCTGCTGCCCAATTCATCCAGGGAAATGAGGTCAGCCCTGGGGTTGGGGAATAGGGCAGACAAGCTGCACTCAGACACAGGGTGCAGTGGGCAGGCTGGCGCGAGGGCAGAGGCGGCTCGGGCTCCTGGCTGTGGTCATTCCCATGGATATTTTCTGTGCCATGACCTGTGCTGAGCACTTTATGTCCATGGATACTGTTACGGGCTGAACTGTGTCCCTTCAAATTCATATGTTACAGGACCTCAGAATGGTACTGTATTTGGAGATAGGGTCTTTATAGAGATGATTAAGGTAAAATGAGGTCAATAGGGTGGGTCCTAATCTAGTATGACAGGTGTTCTTATAAGGGGAGATTAGGACACAGACACACACAAAAGGATGACCCTGTAAGGACTCAGGGAGAAGATGGCTATCAATAAGCCAGGGAGATGGGCACAGTGGCTCAGGCCTATAATCCCAGCACTTTTGGAGGCGGAGGTGGGCAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGACAACATAGCGAAACTCCATCTCTACAAAAAATACAAAAATTAGCTGGGCGTGGTCGCACACGCCTGTCATCCCAGTTACTTGGGAGGGGTAGCGGGGAAGGTGCTGAGGTGGGAGGATAGCTTGAGCCCGAGAGGTTGAGGCTGCAGTGAGCTGAGATCACGCCACTGCACTCTAGCCTGAGTGACAGAGCGAGACCCTGTCTCTTAAAAAAAAAAAAAAAGCCAGGGAGACAGGCCTCAGAAGGAAACAACCCTGTTCGAACAATGACCTTGGACTTCTGGCCTCCAGAATTCATGTTTTTTGTTTGTTTGTTTGTTTTGTTTTTTGGCCTCCACAATTCTGAGAATGAGAATAGACATTTCTGTCGTTTAAGCTGCCCAGTCTGTGGTGCTTCGCTATGCAGCCCTGGCAGACTAATGCATATGTCATCTCGTTAATTTTCCTCACCACTTCCGGCTGAAGAGGGCAGGATTCAGGGATTTGAGGGGACCCCACCGATGAGAGGGAAGCCTGGCCAGGCTGCCTAGCCAGGCTGGCAACAGCCCCAGAACCGGCTCGCTCCACAGAGCATGCTTGGGCCTCAGGGTGAGGCAGTGGGTGAACATGGGTATCAAGGGACAATCACAGGGCCTGGGGTAGGGGGAGCAAGGGGACTGCTGGGCAGCCCTGCCCCTGAGGAGGCTCTGAGGAGCCTGTGAGGGCTGGGGACAGACCGGGCACAAGCTGGGTGTGGAACACACTCTGTGAGTGAAGAGGACGGCCATGCAGGTGCAGGCTTACCTTGTCGTACCTGAGGGCCTGCACAATCTGGGGGATGTAGAAGAGGATGGCGTCCTGTGGAGGTGGAGCAGAGTTGGCCATGACTTCTGAGAGCAGAGCCACCCAACCCTACGGCCCAGGCCCTGCCTCTGCTTCTGCTCTGCCCACAGCAGGGCTGAGAACTGGGGAAAGCCCAGAGGATGGCAGGCAAAATGACCGATGGCTCAGAACACAGGAATGGAGGAAACAGGTAAAAGGAGCAAGGCTCCCGCTCTACAGCGGGCGAGGGCCTCGTGCTCCTCACTAGGGAGCCTGCCTCAGGGAATGGTCTGCTGTGGGTCAGACTCTAGAATATTCCAGAGACCCTTCTCCACCATCATCATGGCTATCTCGTGGGCTCCCTGGGCTCCCACAAGGAGTGAGGGACCCTCCACGGGTGAGGTCACTGTGGGGTTCCAAGGCACAGCTAGCTGCACTGCTGTGTGGGGTGTGCACAGCTGCCGCGCCGCCTCGTAATCAAACTCAAGTTAACTTTATGTCTTTAACTCAAACGCCTCACTAGATTAAAAAACAAATGTAACTAGAGAACACATTTGAATTAGAACTAAATCCATCTTCTACAACTACTTGAGCAAAAAACAGGGAAAGGACCAGTATGTAACGGGGCGACCTCATGGCCAATGGTGGGGCCTGTGCCTCTCACCAGGTAAGACCCCTCCCAACAGTCCTACCAGAGGCCAGCTCAGCAGGGCCCTGGGCTCACCGGAGGGAAGGACCGCAGGACTTTCACCCCGTACTGCGCCGTGAGAGGGTGCGGCGGGTACATGCTGGAGAAGTAGGAGAGGCCTGTGGGTGGGTCCGTGGGCGCCCAGCACAGCACATGGCTGAGCTCTGGAGCATCGGCGTCGATGGTGTGCCAGGTGACCAGGAACTGCAGAGAAGGTGGGGAGATGCTGTGGCTTGGGCAGTCCCGGGACCTCTGGAAATACCTGGTCCACGGGCCACACAAGGACGGCCATGAGAAGTGATGTTTCTAAGCATCGGTAACCATGGGGAAGATGCTTCTGATGTGTTATGGAAAACAACGTAACTGCAATTAGGGTGAAGTGCATTACATTTTTTTCTACTGTGAACAAAATAAATGCTACAGACAAGAAATAGAAAACACAGGAAATCAGAAAAACCATGAATAGCACTGAAGTTGCCAAGCGGCTGTTTTTGTCTCATTTCTAGTTTCAGGCATTTCTGGGTGCAGTGTGCTATTTTGTGCAGTTTGAACTCAGGCCCTGGTACGTGGGCTACACTACCTTGATTGCTTCAGGCACATCACTAACGGCTCCCGGGTCCAACCGAACGAGACGGGTCACTTCGTTCCCAATGGCTTCTGTGTTCTTAAACCTACAGTGCACAGAGGGTATGGGTGGTGCTGCCTCGCCAGGGAACCTGCACTCTCCCACCACACTGGAGTGAGGGGAGCCAGGGGGAAACACTGAACTGGAGGGATTCACATCAATACCAAGTGACGGCTTGGGTACAAACAAATAGAAAGAATGAAGACCTGCTATTTGATAGCACAACAGGGGGACTACAGCCAATAATAACTTAATTGTATATTGAAAAATAACTTTAAAAGAGTGTAACTGGATTGTTTGTAACTCCAAGGACAAATGCTTGAGGGGATGGATACCCCATTCTCCAAGATGTGCTTATTTCACGTTGCATGCCTGTATCAAAACATCTCATGCACCTCATAAATACAGACATCTACTACATATGCACAGAAATTTAAAAAAAAAGTTTAAATAAAAAAATGTTTAGCCAGGTGACGGCTAAATGTTCTATTATGCCACTAACTAGTAGGTCTGAACATTAGTGTTTTTTAAAAAGAGGATTATAATCTGCTGTGATGAAATGCTGGAACTTTCTTAAAGAAACAGGAATTTTTCTACACTTAACTGTTTAAAGGGCTTCCTTTCACCATCCTTGTCTTAAAACCCCTGCCTCTTACTCCTT
|
benign
| 322,657 |
Variant in gene PI4KA (phosphatidylinositol 4-kinase alpha), located at chromosome 22 position 20813317: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
AGGCCAAACTCCCTCAGATTTGTTGACCTGAGATTTCTGTTTCCAGGATGTGCAGACCTCAGGCCTTGCTGCCATTTCACCCACTCATGGTTAACAGGCACAGTTGTGTGACATCCTCTTGCAATCCCCTCCCAGACATCAAGGACACCCTCACAGCCAGTCCTTGGAGCTCATGGCACCTCCTTCCTCTCCGGGCCAGGTGCACTGGCTCTTCTACAACTGCTTAGGTACTCAAACTAGAGCTCATATTTTAAATTTTCAATAGAAGCAATTATTTTCACCAGTTATCTGTACAGTATTTAGTGTAGGAATGAATTGTTCTGTCAACTGCAGAACCACAAAAAAAAAAAAAAAACTGCCCACATCCACAATTGTAGTATTTGATGAAAGTCATTTCCAAAATGTATAGATAATGATAAACATCCTAGGAAAAGAAATGAAAAACCGCCTAAAAGAAAACCTAGGCCAGCCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGCGGATAATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCTGTTTCTACTAAAAATACAAAAACTTAGCCGGGCGTGGTGGTGGTCACCTGGAGTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCTTGGGCGACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAAACCTAAACTTGAAGAAAGTTAAAAGTTAAAATATACTGCAAAAAATAATACCCCAAGAAAGGATGTGAAACAGTCAGTCTTCAGTTAGAATTTCTGACATGGTACTGGGAACAGCCATCTGTGAAGGTCATGGCTCTACCAGGCCACCATTCTATCTGGGGCACTGACACTGAGAAGCAGTTTAGGTAGTTTTCCTTCTTGACAGCAACTTCAAAAACATCCTAGCCTATTTAGTAATTCATTATGGTTCCATCCTCATTAATTATTACCTATGTTGTAATGTCTTCTTACATCTTCAGCCTGAAGCCATTCTCTGAGGGATTTCTATTCACACTCCACACAGCAGGGAGGTGGCCACTCCTCAGCACATGCTCCATGCTATCCAAATTGTTCTCATTTCCAAGACAGCAAGCCCAATCTTGAGAGTCTGGCCTTGATGACATCATCACCCGTACCTATTCAAATCTGTCTTGAACCATCCTAGCTTGATTGTAACAACTTCAGGGCCCCTGGATCTTTATTTTGTAATTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGCTGCGATGTTGACTACTGCAACCTCCACCTCCAAGGTTCAAGCGATCCTCCTAACTCTGCCTCCTGAGTAGCTGGGATTACAGGGATCCACTACCATGTACAGCTAAAGTTTTGTGTTTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACTTTGGCCTCCCAAAGTTGGGATTACTGGCATGAGCCACGGCGTCCAACCAGGGTCCCTGAATCTGACCAAAGCTCTGGCCATTTAAGGAATCGAACAATGGCCCTGGTGTTTTCTCTGGTATCACCCTCAATGTCATCCAAAGGTACCCAAATATGAAAAAGTCAGGTTTTGTTATTAACCCAAATAGAGCCACCCCTTAGAGGAAGTCAAGCCCAGGAAAAGCACTGGACTTGGAGTCAGAATCCCTGGACTGGATGCAGCCCAGCTGCTGGCCTACATATCCATGACGTGTTTGACACCGATTTCCTGACCTCCAAATGGGGATGCATGGGTGCCTCCCCAACATGGTTGCTCAAGAATGAAATGAGAAACCAGTATACAATGATTCCATGAATGTTACTCTACTTCCTTCATTAATCTGCAAGTTTATGACTATTAAATTGTACTTTGAAATACTGGTACTCTGAGTTTTTCTTTTAAAAATACAAGTTTCACCACTAGCAATTTTACTGACATATCCATGGTCTGTTCATCCATCAGTTCTTTGCTTACCAGGTTTAAGAGTTCCCGAAGCATTTCCAATGGAATGTTAAACTCCTTATATGTGACACCGTTGAAAAGGGGAGAGACTGAGAAGCTGGAGCTGATGGTTGAAAAGTAGTACTCAGGCTCTAGGGCAGTCCCATCGGGCAAGCAGGAGGCTGGTGGGAGATAAAGCTGGAAACTCAGCCGTGGTGACAGGCAACTAGGGTACTTCCTCAAGCTGACTCCCCCAATAACCAACAAAGGTGCAGATTTTGCCTTTATTTATATCCCAATTCTCTGCATGTTTTTAAATTAACAACTACAGGGTAGATTGCAAATCCTTGGGGACTGATGCCCCTCACCTGTGTCTTTCAGGTCAAAGACTCAGATATGATGGTCCTAATATTTCCATCTTAGACAATATAACTTAGTATGTGGGAAGTGAAAAAAGAATTGTATCTTTTTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGCAGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGAATAACAGATGCCCGTCGCCACACCTAGGTAATTTTCGTATTTTTAGTAGAGATGGCGTTTCGCCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCAGAAATACACCTTTTTAAAGGTGAAGAGATATGAAAGCTTGGGGTCCACAGGGCCTCAGAGATATTTTCTCACCAAAATTAGAAAAAAAAATGCACACTACTAGAAGTTTCAAAGTCAGAGCAACTAAGTGAAATACACCTGTCACTAAAAGACAAATACTGTACGATCCCACTTATTAGAGGAACTTAAATCATACATAGAGGTAGAATGGTAGCTATCAGTGACTGGGGGAAGGGGAAATGGGGAATAATTGATGTATAGTTTCAGTTTCACGAGATGAAAAGAGTTTTTGAGATGAATTGTAGTGATAGTTGCACAATATTATAAATGTATTCAATACTACTAAACTATACACTTTAAAATAATTAAGGCCAAGCATGGTGGCTCATGCCTATAAACCCAGAGTTTTCGAAGGCTGAGGTGGGAGGATTGCTTGAGTCCAGGAATTCAAGACCAGCCTGGGCAATATAGGGAGATCCTGTCTCTACAAAAAATAAAAATTAGCCGGATACAGCACCATGGGCCTATAGTCCCAGCTACTCAGGAAGCTGGAGCAGGAGGGTTGCTTGAGCCTGGGAGGTCGAGGCTACAGTGGAGCTATGAATTTGTCACTGCACTCCAGTCTGGGTAACAGAGTAAAATCCTGTATTAAAAAAAAAAAATGACATAGCAAATTTTATGTTATGTGTATTTTACCACAATAAAAAAAAAAGAAGGAAAAAAATCAACAAAAATAAAGTCATTCAGTCATTTGACATTTAATAAATATAAACCCAGACCCAATGCAGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCGCCTCATCCCAGGAGTTTGAGACCAGCCTGGGCAACACGACGAGACCCTGTCTCTACATAAATAAAATTATTTTAAATTAAAATAGAAATATAGTAAATAGGAACCCAAAAGCATATAATTGTTTGAAAATCCATTATTTAGAAACTATAATAGAAAACTATGAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATTGAGACCATCCTGGCAAACATGGTGAAACGCTGTCCCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAACTGCTTAAGCCCGGGAGGCTGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATTCTGGTGACAGT
|
AGGCCAAACTCCCTCAGATTTGTTGACCTGAGATTTCTGTTTCCAGGATGTGCAGACCTCAGGCCTTGCTGCCATTTCACCCACTCATGGTTAACAGGCACAGTTGTGTGACATCCTCTTGCAATCCCCTCCCAGACATCAAGGACACCCTCACAGCCAGTCCTTGGAGCTCATGGCACCTCCTTCCTCTCCGGGCCAGGTGCACTGGCTCTTCTACAACTGCTTAGGTACTCAAACTAGAGCTCATATTTTAAATTTTCAATAGAAGCAATTATTTTCACCAGTTATCTGTACAGTATTTAGTGTAGGAATGAATTGTTCTGTCAACTGCAGAACCACAAAAAAAAAAAAAAAACTGCCCACATCCACAATTGTAGTATTTGATGAAAGTCATTTCCAAAATGTATAGATAATGATAAACATCCTAGGAAAAGAAATGAAAAACCGCCTAAAAGAAAACCTAGGCCAGCCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGCGGATAATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCTGTTTCTACTAAAAATACAAAAACTTAGCCGGGCGTGGTGGTGGTCACCTGGAGTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCTTGGGCGACAGGGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAAACCTAAACTTGAAGAAAGTTAAAAGTTAAAATATACTGCAAAAAATAATACCCCAAGAAAGGATGTGAAACAGTCAGTCTTCAGTTAGAATTTCTGACATGGTACTGGGAACAGCCATCTGTGAAGGTCATGGCTCTACCAGGCCACCATTCTATCTGGGGCACTGACACTGAGAAGCAGTTTAGGTAGTTTTCCTTCTTGACAGCAACTTCAAAAACATCCTAGCCTATTTAGTAATTCATTATGGTTCCATCCTCATTAATTATTACCTATGTTGTAATGTCTTCTTACATCTTCAGCCTGAAGCCATTCTCTGAGGGATTTCTATTCACACTCCACACAGCAGGGAGGTGGCCACTCCTCAGCACATGCTCCATGCTATCCAAATTGTTCTCATTTCCAAGACAGCAAGCCCAATCTTGAGAGTCTGGCCTTGATGACATCATCACCCGTACCTATTCAAATCTGTCTTGAACCATCCTAGCTTGATTGTAACAACTTCAGGGCCCCTGGATCTTTATTTTGTAATTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGCTGCGATGTTGACTACTGCAACCTCCACCTCCAAGGTTCAAGCGATCCTCCTAACTCTGCCTCCTGAGTAGCTGGGATTACAGGGATCCACTACCATGTACAGCTAAAGTTTTGTGTTTTTTAGTAGAGATGGGATTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCGCCCACTTTGGCCTCCCAAAGTTGGGATTACTGGCATGAGCCACGGCGTCCAACCAGGGTCCCTGAATCTGACCAAAGCTCTGGCCATTTAAGGAATCGAACAATGGCCCTGGTGTTTTCTCTGGTATCACCCTCAATGTCATCCAAAGGTACCCAAATATGAAAAAGTCAGGTTTTGTTATTAACCCAAATAGAGCCACCCCTTAGAGGAAGTCAAGCCCAGGAAAAGCACTGGACTTGGAGTCAGAATCCCTGGACTGGATGCAGCCCAGCTGCTGGCCTACATATCCATGACGTGTTTGACACCGATTTCCTGACCTCCAAATGGGGATGCATGGGTGCCTCCCCAACATGGTTGCTCAAGAATGAAATGAGAAACCAGTATACAATGATTCCATGAATGTTACTCTACTTCCTTCATTAATCTGCAAGTTTATGACTATTAAATTGTACTTTGAAATACTGGTACTCTGAGTTTTTCTTTTAAAAATACAAGTTTCACCACTAGCAATTTTACTGACAACATATCCATGGTCTGTTCATCCATCAGTTCTTTGCTTACCAGGTTTAAGAGTTCCCGAAGCATTTCCAATGGAATGTTAAACTCCTTATATGTGACACCGTTGAAAAGGGGAGAGACTGAGAAGCTGGAGCTGATGGTTGAAAAGTAGTACTCAGGCTCTAGGGCAGTCCCATCGGGCAAGCAGGAGGCTGGTGGGAGATAAAGCTGGAAACTCAGCCGTGGTGACAGGCAACTAGGGTACTTCCTCAAGCTGACTCCCCCAATAACCAACAAAGGTGCAGATTTTGCCTTTATTTATATCCCAATTCTCTGCATGTTTTTAAATTAACAACTACAGGGTAGATTGCAAATCCTTGGGGACTGATGCCCCTCACCTGTGTCTTTCAGGTCAAAGACTCAGATATGATGGTCCTAATATTTCCATCTTAGACAATATAACTTAGTATGTGGGAAGTGAAAAAAGAATTGTATCTTTTTTATTTTTATTTTTATTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGCAGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGAATAACAGATGCCCGTCGCCACACCTAGGTAATTTTCGTATTTTTAGTAGAGATGGCGTTTCGCCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCAGAAATACACCTTTTTAAAGGTGAAGAGATATGAAAGCTTGGGGTCCACAGGGCCTCAGAGATATTTTCTCACCAAAATTAGAAAAAAAAATGCACACTACTAGAAGTTTCAAAGTCAGAGCAACTAAGTGAAATACACCTGTCACTAAAAGACAAATACTGTACGATCCCACTTATTAGAGGAACTTAAATCATACATAGAGGTAGAATGGTAGCTATCAGTGACTGGGGGAAGGGGAAATGGGGAATAATTGATGTATAGTTTCAGTTTCACGAGATGAAAAGAGTTTTTGAGATGAATTGTAGTGATAGTTGCACAATATTATAAATGTATTCAATACTACTAAACTATACACTTTAAAATAATTAAGGCCAAGCATGGTGGCTCATGCCTATAAACCCAGAGTTTTCGAAGGCTGAGGTGGGAGGATTGCTTGAGTCCAGGAATTCAAGACCAGCCTGGGCAATATAGGGAGATCCTGTCTCTACAAAAAATAAAAATTAGCCGGATACAGCACCATGGGCCTATAGTCCCAGCTACTCAGGAAGCTGGAGCAGGAGGGTTGCTTGAGCCTGGGAGGTCGAGGCTACAGTGGAGCTATGAATTTGTCACTGCACTCCAGTCTGGGTAACAGAGTAAAATCCTGTATTAAAAAAAAAAAATGACATAGCAAATTTTATGTTATGTGTATTTTACCACAATAAAAAAAAAAGAAGGAAAAAAATCAACAAAAATAAAGTCATTCAGTCATTTGACATTTAATAAATATAAACCCAGACCCAATGCAGTGGCTCACACATGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCGCCTCATCCCAGGAGTTTGAGACCAGCCTGGGCAACACGACGAGACCCTGTCTCTACATAAATAAAATTATTTTAAATTAAAATAGAAATATAGTAAATAGGAACCCAAAAGCATATAATTGTTTGAAAATCCATTATTTAGAAACTATAATAGAAAACTATGAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATTGAGACCATCCTGGCAAACATGGTGAAACGCTGTCCCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAACTGCTTAAGCCCGGGAGGCTGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATTCTGGTGAC
|
benign
| 322,697 |
Gene PI4KA variant at chromosome 22, position 20858672—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
GGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTCCTCCCAGAATCCAGCAATCAGTCATAAGATATATTTGTTGGCTCTCCTGCTAAGAAGCGAATGTGCTGACTAGCTAGCATGAGTTTGATTCAATAAAACAGCACTACACTCCATTAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGA
|
GGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTCCTCCCAGAATCCAGCAATCAGTCATAAGATATATTTGTTGGCTCTCCTGCTAAGAAGCGAATGTGCTGACTAGCTAGCATGAGTTTGATTCAATAAAACAGCACTACACTCCATTAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGANNNNNNNNNNNN
|
benign
| 322,706 |
Clinical significance of chromosome 22, position 20858678, gene PI4KA: benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
CACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTCCTCCCAGAATCCAGCAATCAGTCATAAGATATATTTGTTGGCTCTCCTGCTAAGAAGCGAATGTGCTGACTAGCTAGCATGAGTTTGATTCAATAAAACAGCACTACACTCCATTAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGAAACAGT
|
CACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTCCTCCCAGAATCCAGCAATCAGTCATAAGATATATTTGTTGGCTCTCCTGCTAAGAAGCGAATGTGCTGACTAGCTAGCATGAGTTTGATTCAATAAAACAGCACTACACTCCATTAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGA
|
benign
| 322,707 |
Regarding the variant found on chromosome 22 at position 20858678 in gene PI4KA: is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
CACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTCCTCCCAGAATCCAGCAATCAGTCATAAGATATATTTGTTGGCTCTCCTGCTAAGAAGCGAATGTGCTGACTAGCTAGCATGAGTTTGATTCAATAAAACAGCACTACACTCCATTAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGAAACAGT
|
CACCATGTTGGCCAGGCTGGTCTCAAACTCCGACCTCAAGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCATCATAAAATATAATCTTGACAACTGAAGCAGTTATTACTACAAAGCTAAGAATGTTGCAATTACAGAATGTTCTCGTGACTAGTGAACATGGCTGAAGAAGCAAATTGAGCTCAAGGTGCCCTTTTCTGAGTTACTGAGTGGAAAGGGTGCTACCACTGCTGGAGCTGCAGGACCAGCTTCTTAAAGATCATCCAATTCACTGCATTCTCTTCTCTCTCCTCCCAGAATCCAGCAATCAGTCATAAGATATATTTGTTGGCTCTCCTGCTAAGAAGCGAATGTGCTGACTAGCTAGCATGAGTTTGATTCAATAAAACAGCACTACACTCCATTAGTCAGACTATCTAATGATAACAGTGCTCATACATTAGGTACCCACGTGCCTTTTTGTTGCTCTTCACAATACTCCTATGAAGTACTACCTTGTATTTGACAGAAGATAGCAAAGTATCAGAGAAGGGAACTGACCTGTCTAGAGTCACACTAGTGAAAGCAAGTGATACAGGATTTAAATTCAGAGGTTCCATTTTCCAAACTCATGTCCTTTCCATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCGCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGAAACAGTNNNNNN
|
benign
| 322,708 |
Mutation at chromosome 22, position 20859329, within SNAP29 (synaptosome associated protein 29): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['CEDNIK_syndrome']
|
ATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGAAACAGTTTTGTTTGGACAGAGAAAAAAAAAGGTTTAAAAAAATGTATAAGCCAGGCGCGGTTGTACTTCTGTAATCCCAACAATTTGTAAGGCTGAGGTAGGCAGATCATTTTAGCCCAGGAGTTTGAGACCAGCAGGGGTAACTGCGTCTCTACAAAATTTGAAAAATTAGCCAGGCATGGTGGCACACACATGTGAGTGCAGCTACTGAGGAGGCTGAGGCAGGAGGACCGCTTGAGCCCAGGATGTCAAGGTTGCAGTGAGCCATGTTCATACCACTGCACTCCAGCTTGGGCGACAGAGCAACACGCTATCATTTCCCCTTGCTGTTTTCTTGGGTTAATTCCCTTCCCCACCTCTCTCTGTTCATGTATCCCTCATTGATCCACCTCCCTGTGGTTTTTTTTTTTTTTTTTTGAGACAGATTCTCGCTCTGTCACCAGACTGGAGTGCAGTGGCACCAACTTGGCTCACTACAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAAGGCGTGCACTACCACACCCAGCTAATTTTGGTATTAATAGAGTTGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCACCTCGGCCTCCCAAAGTC
|
ATTGCATTGTACTCCCTCTTTAGCTAGAAGTCAGGTTAGCACCAATCTGCCGGGACCTTCTCACCCCGAAGGTGCATGATAAAATCAAATATGAGAACCGACAAGGCCAAGGACCAGGTCACTCTGCCAAAAGTGCCTAAAACAGCCTTTCAGCTTCATCCATCAGCAGACAGCCACAAAACCACTCCCAACTGCAGCAGGCTGGTCTCCGGTCACCACTGTCTTATCTTGTCGGAAAACATCCTCTCTCCATGTGCCAAAAAGTTGAGTGGGAAAATAATTCCATCCTTTCAGAGCTAAACACTGTGCTGAGTCTCATCGCACACGGGTGGGCAAAGAAAGTTGACATTTACTGCTCACCCACTCTGTGCCTTGACCTGTGCAAGATGCTTTATGCTAGAACTCATTTAATTCTCAAGAACAACCTCATTTTACAGATAAGGATACAGAGGCTCTAAGAGTTAAATTTACCCAAGAGGACATGGTAAGTAAGTGCCAGTGCAGGGAACAAATTCAGGTCCCACTCTAAAATCTGTCTCTTTCCAGATCTCAAGGCACACCACTGAGTTGCCTTTCACCTTTCTCCCAAGATGAGGATTGCTCTGGCATGACTTCACCTTTCTCTTCTGAAGCAATTCCAAGTTCACTTCTCTGCCCACTGACAGTTCACTCTCCTTTCCCTGCCACTGTCCCTTCTGCAAACGCACAATCTTTTACCCAACCTAACGCCCCCAGCCTCGTAGAATAACACTGCGCAGTTGGTTTACAGTCACAAAGCACTTTCAAGACAGTGTTTCGTCTCCTGGTCACCACAGTCCGGTGAAGCCGGCAAAGCAGATAAAAGCATCCCCATTTTACAAGAAAGCCATCTTCCCAAGGTCGCGGAATAAAAAGCAGGTGAAATCGGAAGCAGAACCCCAGGTCTTGACCCCTGGTCCTCGGCTCATCCCACTGCTCCGCACAGCCGCCCACGATCCAGCCTCCACCTCCGCGATGTCACAAGATGCTCCCTGGGCCAGCAGCTCACATCCCCCACCCCCATCCCACAACCACCCACCTGCAGCGGCCCTGCAGGCCCCGCCGACCCTTCCCCCACGGTCCCTCTCTCTTCACCAGCCCCTCCCACTAGGGCCTCCTTCCCCCGCTAGATCCCTCCGCTCAGGCGCCCCCTCCCGCACAGGCTGCCGGCGAGCCCAGCCTCGGCCTCCCACAGACCCTCGTCCCGCCTCCACGCTTCGTCACCCCAGCCCCTCCTCCTGTCAGCCCGCGGCCCAGCCCGCCGACGTTACCTTCTCCAAGGATGCTGGTCTCTGCACCGCCAGGGAGCGGGCCAGTGACAGGACCGTGTTGAAATAGAAGCCCCGCGAGGCGCTGGAGCCGGAGCCGGAGCAGCCGCCGCCGCCTCCGCCTCCGCCTCCGCCTCCCCGGGCCGGGGCCGCCGCCATCACCTCACGAGCCGCGGCGCTGCCCGCCGGCTCCCCGCTCCTGGCCCGCGAGCGCCCGACCTCAGGGCGCAGGCGTAGGTGCATCCGGCTTTCCCGCCACGTGACCTCTCAGTTGCTGACACTAGATAGGGCGTGGCTGCGGGGCGGGCCCACCGCTGCAGGGGAGAGAGGGGATGGACAGTAGGCTGCGGTTGCGCGCGCCGGATGTGGGCCCCCCCCAGCCGACCTGCGCGATGGTCGGCTCCGAGGGCGGGGCCACCTGCGCGCGACGCGCGGAAGGAGTTCGCGCGACGACCGCGGGGTCGGCGGGCGGGGCGAGGCCCTGGACGGCGGCGGCAGTGGGGCTCCTCCTTCTGTTTCCCAGACCGAGAGCCGCGCCGGCACCATGTCAGCTTACCCTAAAAGCTACAATCCGTTCGACGACGACGGGGAGGACGAAGGCGCCCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGCGCCCGCGGACAGGCAGCAGTACTTGCGGCAGGAGGTCCTCCGCAGGGCTGAGGCCACGGCCGCCAGCACCAGCAGGTCCCTGGCCCTCATGTACGAGTCCGAGAAGGTTGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGGCTGGTGTGGACTCGCCGGTCTCTGTGCTGTCAAACGGAGACGAGAAATGTTTTGCTCACAATCTTTTGAGAATTCTCAAGTTGCCTAGCATAGATTCTTGCACCTTAGTGACTCGATGGTGGTAACAATCTGTTAACTATGTAAAGGTATGTGCATCTGGAGTACTTGAAGAGGGCAGTTTACCCCAGAAATCTTCCTTAGCTATTAGTCTGCTTCGTTGATTTTTTTTTTCTTACGCCTAGCTCACGGGGAAACGCCAGATTATTTTCTGTCCAGGTGAGTAAAAATTCTGAACAGCAGGTCCTAGGTTTGGGAAATGGAGAGTCCGTTTCTTCGACATTATTTCCTGTGCAAAATCTGGCACAGGGTTTTGGCCATTCCTTCCGGAGTGAGCCAGAAAGAGAGGACTATGTGCCTGCGAGTGTCAGGTGATACCCTGAAGCATCAGGGCAGGTGGTCCACGAGTTCTTCCCGCATCATTGACATCTCCACCTAACCAACCAATAGAGGTATTGAAGTCCCTTCAGCCCAGACAGCTGCCTAGTTGACCAAAGCCTGGGTTTGATTGAGTCCAGGGTCTTACCTTTACTTCCCAAATCCTAGACAAATAGTGTGCGGGTTAAGAGTTTGTTGCTCCAACTCATCTTCATCAGTTCTTCCCATCCTTAGATTTCAGAGAGTAGTACCTTCAATAACAATTATTCTGGCCGAGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGTCGGATCGCCTGAGCTCAGGAGTTCGAGACCCGCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAATTAAAAAAAAAAAAAAACTAGCCGGGTGTGGCGGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGTACCCGGGAGGCAGAGGTTGCAGTTAGCTGAGATCGTGCTGCTGCACTCCAGCATGGGCAACAGACCGAGATCCTGGAGGGTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCTTGCTTGGGTACAGTGGCATGATCTGGGCTCACTGCAACTTCCGCCTCCGGGATTCAGACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCCGCCACACCCGGCTAATTTTTTTTGTATTTGTAGTGGAGACAGGGTTTTGCCCCGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGCAGTCCGCCCGCTTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATACCGGTCGAGAATGATTCTTTATTGTACACCACAGTCTCTCTTCAGCCTGCTAATGAAACAGTTTTGTTTGGACAGAGAAAAAAAAAGGTTTAAAAAAATGTATAAGCCAGGCGCGGTTGTACTTCTGTAATCCCAACAATTTGTAAGGCTGAGGTAGGCAGATCATTTTAGCCCAGGAGTTTGAGACCAGCAGGGGTAACTGCGTCTCTACAAAATTTGAAAAATTAGCCAGGCATGGTGGCACACACATGTGAGTGCAGCTACTGAGGAGGCTGAGGCAGGAGGACCGCTTGAGCCCAGGATGTCAAGGTTGCAGTGAGCCATGTTCATACCACTGCACTCCAGCTTGGGCGACAGAGCAACACGCTATCATTTCCCCTTGCTGTTTTCTTGGGTTAATTCCCTTCCCCACCTCTCTCTGTTCATGTATCCCTCATTGATCCACCTCCCTGTGGTTTTTTTTTTTTTTTTTTGAGACAGATTCTCGCTCTGTCACCAGACTGGAGTGCAGTGGCACCAACTTGGCTCACTACAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAAGGCGTGCACTACCACACCCAGCTAATTTTGGTATTAATAGAGTTGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCACCTCGGCCTCCCAAAGTCN
|
pathogenic
| 322,721 |
Benign or pathogenic: chromosome 22, position 20870447, gene SNAP29 (synaptosome associated protein 29) variant? Disease(s) if pathogenic?
|
pathogenic; ['CEDNIK_syndrome', 'Hypomyelinating_leukodystrophy_2', 'Inborn_genetic_diseases']
|
AATAGTAAATTCAACCAACCAGTGTTTTAGCTTTTTGCCTATACATTATGTTTTTAAATTTCACCCATTAAACAAGGACTCAGGTTACACATTGATTCCTTAAGGACTTTAAGGAAGCCACAACCATTTATTTATAGTTGCATTTTGCTCTTCAGGTTTCCAGGATGTTTAAAATTTTTTTTGACTTTGTTTTTAGGCATCAAGAGAGAATATATCTAAAAAACATTTGCATAGTTAGTGTAATTGCTAAGCCACAGGGTGATGGGTGGATAGATTCAGAGGAAGGCAGCTGAGGGCAGAGGCTGCCTGACAGAGCAGGAAAAATGAAGCTCGAGAGCCTTCTGGCTGGAAAGGCAGCTCACAGATGGGCCGCAGCTGTAGATCAGTTCTGAACTAGGGACTGAAGCAAGTTTGTCGTAAATAAAGGAAAGTGGTAGTGTTGATGTTGTGAATGTATATCCACAACCAGAACCATCAGCTCTGGAGGGACCATCAGGCTGCCACTGTGGCCACAGAGCATCACTCACGTCTCCATTGGGCAGATTTGCAGAGACTCAGCAGTGAACAGAGCAAGTCCCTGCCTCGTGGAGCTCATATGCTGTGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGTTCGAGACCAGCCGGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAAACTAGCCAGGCATGGTGGCAGGCGCCTGGAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACACAGGAGGCAGAAGTTGCAGTGAGCTAATATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAGAAAAGGAGGTGGAGAAGAGGGGTAGTGGTTGGAAGAAGGAATTCTCCTTTAGGGAAGATGTCTGGGAAGGCCTCTCTGAGAGAGTGGCCTTTGAAAGGAGACCCTAATTGGATGAGGGATGAGAGGCTGAGCCATGTAAGTATCTGGATGGAAAACATTACAGGCGGAGACAGTGGTGTGTGCAAAGGCCCTGGGACAGGGTCACCCGTGTTAACAGGTTTTAAAGCTGGAATTGTGGATGGGCTAGAGTCAGACACTAATAGGGCCCAGAGGGGACACTGGTCCTTGAAATAGAATTTGAGGATTTGACCATGGCCAGGAGGCTCAGGTGGCCCAGTGGGAACTCCTTAAATGGGAACTTCCTAAAGGAAGAATATAAGAACCAAAGTCCAGGGGGCAGTGCCAGGCCCAACCTGTGAGGGTTCCCAGAGTTGGAGGGCTAGAGAGAATCTGCTTCCAGTTCAGGCCATAGACTCTGAACCTCACAGGCACATTGCCATCCATCTCCCCTCACCCCCAACCGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACATTGGCACCATCTTGGCTCACTGCAACCTCTGCCTTCAGGGTTGAAGCAATTCTCCTGCCTCAGCCCCCCGAGTAGCTGGGATTACAGGTGCCCGCCACAACACCTGGCTACTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACGGGTGTGAATCACTGCGCCACCCTCTGCCATCCATCTTAACATGGCGCCATGAGCCAGCCTCTCAGGAAAAGGGTCTCATGAACAAATGAGGAAAGCAAGTAGAGGTAGGGCAGGGAGGGAGAGGCAAAGGAATGTGTTGTTGGAAAGGGTAGTGTGCCCCTCACAGATGACAGTACCCGTCTCCAGATGTGCCCACTGAGAGTTTATGAAGGGGCTGCTCCATGTGGTCCTTGACTGCCCTGGGGGAGAGTCACAGAAAGCTATAATGCCACTGCCTCTCGGTTTCCCCAGGAGCTCGCCCGTCAGCGAGGAGTCCTGGAGCGCACAGAGAAGATGGTGGACAAGATGGACCAAGATTTGAAGATCAGCCAGAAACACATCAATAGCATTAAGAGCGTGTTTGGGGGGCTGGTCAATTACTTCAAATCCAAACCAGTAGAGACCCCACCTGAACAGAATGGCACCCTCACCTCCCAGCCCAACAACAGGTGAGTGCATCTTCTACCATCTGGGTATAAAGGAGCAGAAGTGGGGATTAGTGCAAATGACCAAGACTTTCAGTCCACGTCAGTGCCATGAAGGGATCCAACAACCCTTTAAGTTACTCATCAGGGGATATTTGTCCTCAAACATTGTGAAACCAGGAACTGTTCTTCCCTGATCCCATGTTCACTTGATTGACATCTAGTCTGTCAATAGCTTCTCCAATAATTGTGACCCCACTACTTTGAAAGAGAGGGTGTTCACCTCAGCGTAATCTGTACAAATGTGACTCACTTCACATAATTTTTGCTTTAAAAAATCTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCGACACTTCAGGATGCCAAGGTGGGTAGATTGCTTAAGCCCAGGAGCTCGAGACCAGCCTGGGCAACATAGTGGGAACCCAGTCTTTACAAAAATTACCCAGGCATTGTGGTGCACACCTGTAGTCCCAGCTCCTCAGGAGGCTGAGGTAAGAGGATCTCATGAGGCCTGGAGATCAAGGCTGCAGTGAGCTGTAATGGTGCACTCCAACCTGGGCTACAGAGGGAGGCCCTGTCTCAAGAAAAAAAAAAAAAAAAGTCTTTATGTCTAAATTTGTCATATCTAATCCAATTCGCCCATTGATTTTTATTTGAAAATTATAAGGCTGGGCTCAGTGGCTTATCTGTAAAATCCCATGCTTTCAGAGGCTAAGGTAGGAGGATTGTTTGAGACCAGCCTAGACAACATAGCAAAGACCCGTCTCTATAAAAACTAAAAAAAAAAAAAAATTAGCCAGACATGATGGCACGTGCCTATATTCCTAGCTACAGGGGAGACTGAGGTGGAAGGATTGCTTTAGCCCAGGTGTTAGAGACTAGAGTTAAGCTATGATGGTGCCACTGCACTACAGCATCAGTGACAGAGTCTCCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAAAGATTTAAAGCTAAATAATTAAAATCAAAAAAATAAAGTTAGAAGTTGCTTTCCTCAGGTTTTGGCTCGAAATATAAAATCATACATGAGACTGGGGGCCAGGCACGGTGGCTCACGCCTATAATCCTAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCAAGTCAGGAAATCAAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGCGTGATGGCGGGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAATTCATGAGATTTTGGTAGACTTCAGTGTTACATGTTCAAGGATAAAGGAATGGAGTTTCTGCTGAAGTAGATTACTATTGTTTGTATTTCAGATCACTGTGTCTGTTTTTATTACAAAAACAACATGGCCACATTACAGACAATCTATACTTTACCTACCGCAACACAAAAACAGAAAATTTCATTTTCCCCTTATTCAGTATTTTCATAGTTGTAACCATAGTATTCTTTTGGTTTGATAGCCTTTTTCTTCCATTTAACCCAGAAAAACTGCTTGATATTATGTGATAACTCAGGTTCCATAACCATCTCTCTCTCTCTCTTTTATTTATTTATTTTTTATTTTATTTATTTATTTTTTTTGAGATGGAGTTTCACCCTTGTTGCCCAGGCTGGAGTGCAAAGACGTGATCTCAGCTCACTGCAACCTCTGCCTTCCAGGTTAAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGTGCCCACACCATGCCTGGCTAATTCTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG
|
AATAGTAAATTCAACCAACCAGTGTTTTAGCTTTTTGCCTATACATTATGTTTTTAAATTTCACCCATTAAACAAGGACTCAGGTTACACATTGATTCCTTAAGGACTTTAAGGAAGCCACAACCATTTATTTATAGTTGCATTTTGCTCTTCAGGTTTCCAGGATGTTTAAAATTTTTTTTGACTTTGTTTTTAGGCATCAAGAGAGAATATATCTAAAAAACATTTGCATAGTTAGTGTAATTGCTAAGCCACAGGGTGATGGGTGGATAGATTCAGAGGAAGGCAGCTGAGGGCAGAGGCTGCCTGACAGAGCAGGAAAAATGAAGCTCGAGAGCCTTCTGGCTGGAAAGGCAGCTCACAGATGGGCCGCAGCTGTAGATCAGTTCTGAACTAGGGACTGAAGCAAGTTTGTCGTAAATAAAGGAAAGTGGTAGTGTTGATGTTGTGAATGTATATCCACAACCAGAACCATCAGCTCTGGAGGGACCATCAGGCTGCCACTGTGGCCACAGAGCATCACTCACGTCTCCATTGGGCAGATTTGCAGAGACTCAGCAGTGAACAGAGCAAGTCCCTGCCTCGTGGAGCTCATATGCTGTGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGTTCGAGACCAGCCGGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAAACTAGCCAGGCATGGTGGCAGGCGCCTGGAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAACACAGGAGGCAGAAGTTGCAGTGAGCTAATATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAGAAAAGGAGGTGGAGAAGAGGGGTAGTGGTTGGAAGAAGGAATTCTCCTTTAGGGAAGATGTCTGGGAAGGCCTCTCTGAGAGAGTGGCCTTTGAAAGGAGACCCTAATTGGATGAGGGATGAGAGGCTGAGCCATGTAAGTATCTGGATGGAAAACATTACAGGCGGAGACAGTGGTGTGTGCAAAGGCCCTGGGACAGGGTCACCCGTGTTAACAGGTTTTAAAGCTGGAATTGTGGATGGGCTAGAGTCAGACACTAATAGGGCCCAGAGGGGACACTGGTCCTTGAAATAGAATTTGAGGATTTGACCATGGCCAGGAGGCTCAGGTGGCCCAGTGGGAACTCCTTAAATGGGAACTTCCTAAAGGAAGAATATAAGAACCAAAGTCCAGGGGGCAGTGCCAGGCCCAACCTGTGAGGGTTCCCAGAGTTGGAGGGCTAGAGAGAATCTGCTTCCAGTTCAGGCCATAGACTCTGAACCTCACAGGCACATTGCCATCCATCTCCCCTCACCCCCAACCGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACATTGGCACCATCTTGGCTCACTGCAACCTCTGCCTTCAGGGTTGAAGCAATTCTCCTGCCTCAGCCCCCCGAGTAGCTGGGATTACAGGTGCCCGCCACAACACCTGGCTACTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCGCCTCAGCCTCCCAAAATGCTGGGATTACGGGTGTGAATCACTGCGCCACCCTCTGCCATCCATCTTAACATGGCGCCATGAGCCAGCCTCTCAGGAAAAGGGTCTCATGAACAAATGAGGAAAGCAAGTAGAGGTAGGGCAGGGAGGGAGAGGCAAAGGAATGTGTTGTTGGAAAGGGTAGTGTGCCCCTCACAGATGACAGTACCCGTCTCCAGATGTGCCCACTGAGAGTTTATGAAGGGGCTGCTCCATGTGGTCCTTGACTGCCCTGGGGGAGAGTCACAGAAAGCTATAATGCCACTGCCTCTCGGTTTCCCCAGGAGCTCGCCCGTCAGCGAGGAGTCCTGGAGCGCACAGAGAAGATGGTGGACAAGATGGACCAAGATTTGAAGATCAGCCAGAAACACATCAATAGCATTAAGAGCGTGTTTGGGGGGGCTGGTCAATTACTTCAAATCCAAACCAGTAGAGACCCCACCTGAACAGAATGGCACCCTCACCTCCCAGCCCAACAACAGGTGAGTGCATCTTCTACCATCTGGGTATAAAGGAGCAGAAGTGGGGATTAGTGCAAATGACCAAGACTTTCAGTCCACGTCAGTGCCATGAAGGGATCCAACAACCCTTTAAGTTACTCATCAGGGGATATTTGTCCTCAAACATTGTGAAACCAGGAACTGTTCTTCCCTGATCCCATGTTCACTTGATTGACATCTAGTCTGTCAATAGCTTCTCCAATAATTGTGACCCCACTACTTTGAAAGAGAGGGTGTTCACCTCAGCGTAATCTGTACAAATGTGACTCACTTCACATAATTTTTGCTTTAAAAAATCTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCGACACTTCAGGATGCCAAGGTGGGTAGATTGCTTAAGCCCAGGAGCTCGAGACCAGCCTGGGCAACATAGTGGGAACCCAGTCTTTACAAAAATTACCCAGGCATTGTGGTGCACACCTGTAGTCCCAGCTCCTCAGGAGGCTGAGGTAAGAGGATCTCATGAGGCCTGGAGATCAAGGCTGCAGTGAGCTGTAATGGTGCACTCCAACCTGGGCTACAGAGGGAGGCCCTGTCTCAAGAAAAAAAAAAAAAAAAGTCTTTATGTCTAAATTTGTCATATCTAATCCAATTCGCCCATTGATTTTTATTTGAAAATTATAAGGCTGGGCTCAGTGGCTTATCTGTAAAATCCCATGCTTTCAGAGGCTAAGGTAGGAGGATTGTTTGAGACCAGCCTAGACAACATAGCAAAGACCCGTCTCTATAAAAACTAAAAAAAAAAAAAAATTAGCCAGACATGATGGCACGTGCCTATATTCCTAGCTACAGGGGAGACTGAGGTGGAAGGATTGCTTTAGCCCAGGTGTTAGAGACTAGAGTTAAGCTATGATGGTGCCACTGCACTACAGCATCAGTGACAGAGTCTCCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAAAGATTTAAAGCTAAATAATTAAAATCAAAAAAATAAAGTTAGAAGTTGCTTTCCTCAGGTTTTGGCTCGAAATATAAAATCATACATGAGACTGGGGGCCAGGCACGGTGGCTCACGCCTATAATCCTAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCAAGTCAGGAAATCAAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAGCTGGGCGTGATGGCGGGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTGCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAATTCATGAGATTTTGGTAGACTTCAGTGTTACATGTTCAAGGATAAAGGAATGGAGTTTCTGCTGAAGTAGATTACTATTGTTTGTATTTCAGATCACTGTGTCTGTTTTTATTACAAAAACAACATGGCCACATTACAGACAATCTATACTTTACCTACCGCAACACAAAAACAGAAAATTTCATTTTCCCCTTATTCAGTATTTTCATAGTTGTAACCATAGTATTCTTTTGGTTTGATAGCCTTTTTCTTCCATTTAACCCAGAAAAACTGCTTGATATTATGTGATAACTCAGGTTCCATAACCATCTCTCTCTCTCTCTTTTATTTATTTATTTTTTATTTTATTTATTTATTTTTTTTGAGATGGAGTTTCACCCTTGTTGCCCAGGCTGGAGTGCAAAGACGTGATCTCAGCTCACTGCAACCTCTGCCTTCCAGGTTAAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGTGCCCACACCATGCCTGGCTAATTCTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC
|
pathogenic
| 322,726 |
Considering the genetic mutation at chromosome 22, position 20881100, impacting SNAP29 (synaptosome associated protein 29): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['CEDNIK_syndrome']
|
AATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCCGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATGGTGTAAACCTGGTCAGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTAATAGGCTGGACACAGTGGCTCATGCCTGCATGGCTGTAATCCTGGCACTTTTGGAGGCTGAGGCAGGGGGATCACTTGAGTAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATAGCTTGAACCCGGGAGATGGAGGTTGCAGTAAATCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAGAAAAAACAATTTAAGAATTGGCCAAGCATGGTGGCTTATGCCTGTAATCCCAGAACTTTGGGAGGCTAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGCCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAAATAGCCAGGTGTGGTGGGGGCCTGTAATCCCAGCTACTCAGGAGCCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTAGGTGACAGAGCGAGACTCTGTCTGAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCAGGGTGGTGAGTGCCTGTGGTCTCAGTTACCCAGGAGGCTGAGGTGGGAGGATCACGAGCCTAGGAGTTAGAGACTTCAGTGTTTGCACCACTATACTCCAAACTTGGTGACAGAGAGAGACCCTATCTCAAACAACAACAACAAAAACAGTAATAGTTGAGTACAGTATTCTGGTAATATAAGTGCACTAATGAGAGGAATGAAACTCTTGAGGTTCTAAGTTTGTCATCTGAGGTGCACATGGTCATCTCTAAGGCCATTCTTTGCTCATGGTCATATAAAAACAGGTGAAATTTTGTTTTGTGTATTTTACCATAATAAAAATAACTTGGGGCCAGGCGCAGTGGCTCATGTCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAAATTAGCTGGGGATGGTGGCACCTGCCTATAACTGTAATATCCCAGCTACTCGGGAGACTAAGGCGGGAGAATCACTTGAACCCGAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAAAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAACGGGGAAACAGTACAAAAACAGGAGGTGAGCCAGATGTGATCAGCAGGTCATTGTTTGCTGACTGTAGTCTAAAGTACCGGTTTGGTTGTTCCATGTGCTTTTCATCTGCCTGGTCCTAGGAATCCAGGTTTCCCTGAGAGAGGGCCACCTAACTCGATGCTACACTGCTTTTTTTTTCTTTTTTTTCAGTAAAGACAAGGTCTCATTATGTTTCCCAGATCTCACACTCGTGGGCTCAGGCAATTCTCCCACCTCAGTTTCCCAAAATGCTGGGATTACAGGCATGAGTCACCACACCTGGCTTAGCTGCCACACTTCTGAGGCAGGGGTCTTCATAAGCTTACTGCTTGGCCCACTGTGCTCCTGGGAGAAGCTGTTGAAATCCCTACTTTGGTCAGAAGGAGTTTGGCACAGAGGAGGCATTTGATTTTTAGCACACAGGCATTATGTGAAAAGACTGATAACATTGTCATAGGGGTTTTTCCTTTTTAAACGTTTTCTTTTTTGTGAACTTTTATCCAAAGATTGAAAGAAGCTATAAGTACAAGTAAAGAACAGGAAGCAAAGTACCAGGCCAGCCACCCAAACCTTAGAAAGCTGGATGATACAGGTAAGTGGATACCTGTGTGCACAGCCACATTTGAATTCTGGGGGGAGACCTCTAGGTTTGGCGTTGGTCCTTGGGGGGCAGTGGCAACCTCTCTGGGGAGGTGGGCAGGGGCCCCAGCTGCTGGCATCACCCATGCTAGCCAAAGGGCCTTAGGGACCCCGCATGCTCTTGCGGAGCTGGGGGTGTGCATTATGGTGGGGCTCCTCCTTCTCTCCCTCCCTCCCTCCATGGAGAGGAGAACAAGGAAGTGAGGGCCTGCATTCCATTGAAAATGAGCCTGCCCGGCCAGCCTGGTGCAGTAACACACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCTGGGTGAATCACCTGAGGTCAGGAGTTTGTGACCAGCCTTACTAATAACGTGGTGAAACCCTGTCTCTACTAAATACAAAAAAATTAGCCAAATGTGGTGGCACATGCCTCTAATCCAAGCTACTTGGGAGGCTTGGACAGGAGAATCACTTGTATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTATAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAGAAAATGAGCGTGCCCATCATTGGTTCCTGCCTGTGTCATTCTCAATTGTTCCAGCAGTAAAAAGCCAACTGCAGAAAAACCCCTTGGTAAATAGAATACTGGCCCCTCAAAGCTGTCCACGTCCTAATCCCCAGACCCCGTGAGTGTGTTAGGTTATATGGCAAAGGTGGAATTACAGTTGCAGATGGAGTTACAATTGCTAATCAGCAAGATGGGGAGATTATCCTGGGTTGTCCAGTTGGGTCCAGTGTCATCACAAAGGTCCCTTTTAAGTGGAAAGAGAAGCAGGAGAGAGAGCAGCAGAGTCAGAGATCTGAAGATGCTGCTGGCCTTGAAGATAGAGAAAGGGGCCCACCTGCCAAGGTACACGGGTGAACTGTAGAAACTGCAAAAGGCGAGGAATTAGATTCTTCCCAAGAGCTCCAGAAGGAGTGCAACCCTGAGGACACCCCGACTCAGCCCAGTGAGACCCATGTTGGACTTCTGACCTCCAGAACCGTAAGACAAGTTTGTGGTCATTTGTCACAGCATCAGTGAGGGACTAATACAGCCTCCAGCCCAAGCAGAAGGAGCAGCAGCCACATGGACAAGGTGTGCAAGACAGTGTTGATCGAATCATTCCACTTCTATCAAGTGATAGGCCCAGAAACATCCCTTATCTGGAAAGGAATTTAGGGCTCCTGGGGCCTCCTCCATAGGCCCCCACAATAGCCAGGTACATTGAAATTGGTGCTAGAAACCAAAGGCTTACTGTGCTGCCTTCAAGAAAACGATACACCATGGAAGCTCTGGAACCCACCATGGTTGTGGTTGATGCAGCTGAGGAGAGCCCAGATGGAGGAAGAGCGGGGAGCAGGAGAGACTAACATCATCAGCACAGTTCATTCTGGAAAGGCAAGTGGAGGAAGTGAGTGTAAATTGAAAGGCAAGGGCTGGGAAAACCGGCCTCATCACACCCTGGAGAAGGGGCACAGGACACTGCACCCAAGACACAATTTTAAGGAATTAAAGAGAGTTTTTATTTGTGCAGTATATATTAACTTAAAAGACTGAAGAAAAAATCGACACAGTTTGCAGAATGGTTTCAGTTGGTTGGTGCTGGAGGAAATGTGCTAAGTCTAGAAAGTGAAGTTTCCCTGAAAGAGATAAACCGGGATGACAGGGCTTTTCCGTGTGCGTTTAGAAACTGAAGTTCATTCAAGCCAAGAAAGATAATTTTAAAAAAGAAGAAACTAAAAGTTCAAGGAAGATTTCTTGTGGCAAATGTGCATTATTTAACATTTCTTTTTTTTTTTTTTGCGTATTTGTTTCAAGTGCAAAGATAGTGTAGAAATAAATTTCAGAAAGAAACGAAATTACCCATAATTCCATTTATGTAACGTAACAATTTGTATTTTTATACTTTGTCCACAGACTGTGTAGTTTTGCATTAT
|
AATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATTCCGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGAATGGTGTAAACCTGGTCAGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGTAATAGGCTGGACACAGTGGCTCATGCCTGCATGGCTGTAATCCTGGCACTTTTGGAGGCTGAGGCAGGGGGATCACTTGAGTAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATAGCTTGAACCCGGGAGATGGAGGTTGCAGTAAATCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAGAAAAAACAATTTAAGAATTGGCCAAGCATGGTGGCTTATGCCTGTAATCCCAGAACTTTGGGAGGCTAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGCCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAAATAGCCAGGTGTGGTGGGGGCCTGTAATCCCAGCTACTCAGGAGCCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTAGGTGACAGAGCGAGACTCTGTCTGAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAGCCAGGCAGGGTGGTGAGTGCCTGTGGTCTCAGTTACCCAGGAGGCTGAGGTGGGAGGATCACGAGCCTAGGAGTTAGAGACTTCAGTGTTTGCACCACTATACTCCAAACTTGGTGACAGAGAGAGACCCTATCTCAAACAACAACAACAAAAACAGTAATAGTTGAGTACAGTATTCTGGTAATATAAGTGCACTAATGAGAGGAATGAAACTCTTGAGGTTCTAAGTTTGTCATCTGAGGTGCACATGGTCATCTCTAAGGCCATTCTTTGCTCATGGTCATATAAAAACAGGTGAAATTTTGTTTTGTGTATTTTACCATAATAAAAATAACTTGGGGCCAGGCGCAGTGGCTCATGTCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAAATTAGCTGGGGATGGTGGCACCTGCCTATAACTGTAATATCCCAGCTACTCGGGAGACTAAGGCGGGAGAATCACTTGAACCCGAGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAAAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAACGGGGAAACAGTACAAAAACAGGAGGTGAGCCAGATGTGATCAGCAGGTCATTGTTTGCTGACTGTAGTCTAAAGTACCGGTTTGGTTGTTCCATGTGCTTTTCATCTGCCTGGTCCTAGGAATCCAGGTTTCCCTGAGAGAGGGCCACCTAACTCGATGCTACACTGCTTTTTTTTTCTTTTTTTTCAGTAAAGACAAGGTCTCATTATGTTTCCCAGATCTCACACTCGTGGGCTCAGGCAATTCTCCCACCTCAGTTTCCCAAAATGCTGGGATTACAGGCATGAGTCACCACACCTGGCTTAGCTGCCACACTTCTGAGGCAGGGGTCTTCATAAGCTTACTGCTTGGCCCACTGTGCTCCTGGGAGAAGCTGTTGAAATCCCTACTTTGGTCAGAAGGAGTTTGGCACAGAGGAGGCATTTGATTTTTAGCACACAGGCATTATGTGAAAAGACTGATAACATTGTCATAGGGGTTTTTCCTTTTTAAACGTTTTCTTTTTTGTGAACTTTTATCCAAAGATTGAAAGAAGCTATAAGTACAAGTAAAGAACAGGAAGCAAAGTACCAGGCCAAGCCACCCAAACCTTAGAAAGCTGGATGATACAGGTAAGTGGATACCTGTGTGCACAGCCACATTTGAATTCTGGGGGGAGACCTCTAGGTTTGGCGTTGGTCCTTGGGGGGCAGTGGCAACCTCTCTGGGGAGGTGGGCAGGGGCCCCAGCTGCTGGCATCACCCATGCTAGCCAAAGGGCCTTAGGGACCCCGCATGCTCTTGCGGAGCTGGGGGTGTGCATTATGGTGGGGCTCCTCCTTCTCTCCCTCCCTCCCTCCATGGAGAGGAGAACAAGGAAGTGAGGGCCTGCATTCCATTGAAAATGAGCCTGCCCGGCCAGCCTGGTGCAGTAACACACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCTGGGTGAATCACCTGAGGTCAGGAGTTTGTGACCAGCCTTACTAATAACGTGGTGAAACCCTGTCTCTACTAAATACAAAAAAATTAGCCAAATGTGGTGGCACATGCCTCTAATCCAAGCTACTTGGGAGGCTTGGACAGGAGAATCACTTGTATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTATAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAGAAAATGAGCGTGCCCATCATTGGTTCCTGCCTGTGTCATTCTCAATTGTTCCAGCAGTAAAAAGCCAACTGCAGAAAAACCCCTTGGTAAATAGAATACTGGCCCCTCAAAGCTGTCCACGTCCTAATCCCCAGACCCCGTGAGTGTGTTAGGTTATATGGCAAAGGTGGAATTACAGTTGCAGATGGAGTTACAATTGCTAATCAGCAAGATGGGGAGATTATCCTGGGTTGTCCAGTTGGGTCCAGTGTCATCACAAAGGTCCCTTTTAAGTGGAAAGAGAAGCAGGAGAGAGAGCAGCAGAGTCAGAGATCTGAAGATGCTGCTGGCCTTGAAGATAGAGAAAGGGGCCCACCTGCCAAGGTACACGGGTGAACTGTAGAAACTGCAAAAGGCGAGGAATTAGATTCTTCCCAAGAGCTCCAGAAGGAGTGCAACCCTGAGGACACCCCGACTCAGCCCAGTGAGACCCATGTTGGACTTCTGACCTCCAGAACCGTAAGACAAGTTTGTGGTCATTTGTCACAGCATCAGTGAGGGACTAATACAGCCTCCAGCCCAAGCAGAAGGAGCAGCAGCCACATGGACAAGGTGTGCAAGACAGTGTTGATCGAATCATTCCACTTCTATCAAGTGATAGGCCCAGAAACATCCCTTATCTGGAAAGGAATTTAGGGCTCCTGGGGCCTCCTCCATAGGCCCCCACAATAGCCAGGTACATTGAAATTGGTGCTAGAAACCAAAGGCTTACTGTGCTGCCTTCAAGAAAACGATACACCATGGAAGCTCTGGAACCCACCATGGTTGTGGTTGATGCAGCTGAGGAGAGCCCAGATGGAGGAAGAGCGGGGAGCAGGAGAGACTAACATCATCAGCACAGTTCATTCTGGAAAGGCAAGTGGAGGAAGTGAGTGTAAATTGAAAGGCAAGGGCTGGGAAAACCGGCCTCATCACACCCTGGAGAAGGGGCACAGGACACTGCACCCAAGACACAATTTTAAGGAATTAAAGAGAGTTTTTATTTGTGCAGTATATATTAACTTAAAAGACTGAAGAAAAAATCGACACAGTTTGCAGAATGGTTTCAGTTGGTTGGTGCTGGAGGAAATGTGCTAAGTCTAGAAAGTGAAGTTTCCCTGAAAGAGATAAACCGGGATGACAGGGCTTTTCCGTGTGCGTTTAGAAACTGAAGTTCATTCAAGCCAAGAAAGATAATTTTAAAAAAGAAGAAACTAAAAGTTCAAGGAAGATTTCTTGTGGCAAATGTGCATTATTTAACATTTCTTTTTTTTTTTTTTGCGTATTTGTTTCAAGTGCAAAGATAGTGTAGAAATAAATTTCAGAAAGAAACGAAATTACCCATAATTCCATTTATGTAACGTAACAATTTGTATTTTTATACTTTGTCCACAGACTGTGTAGTTTTGCATTA
|
pathogenic
| 322,728 |
Considering the variant on chromosome 22, location 20982375, involving gene LZTR1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GGAAGGGATAGAGATGTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGG
|
GGAAGGGATAGAGATGTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGG
|
pathogenic
| 322,757 |
Gene LZTR1 variant at chromosome position 20982389 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TGTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTC
|
TGTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCCGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCN
|
pathogenic
| 322,758 |
For chromosome 22, position 20982390, gene LZTR1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCA
|
GTGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCAGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAN
|
pathogenic
| 322,759 |
Clinical classification of chromosome 22, position 20982391, gene LZTR1: benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_2']
|
TGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAA
|
TGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCA
|
pathogenic
| 322,760 |
Is the genetic variant on chromosome 22, position 20982391, gene LZTR1, benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Noonan_syndrome_10', 'Noonan_syndrome_2']
|
TGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAA
|
TGTGTCACCAGGCAGGGCCAGTGCTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAN
|
pathogenic
| 322,761 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 20982414, gene LZTR1: what disease(s) if pathogenic?
|
pathogenic; ['LZTR1-related_schwannomatosis']
|
CTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTG
|
CTGTGGGAAGGGGTCAGGGCCCAATGCATGGGCAATCACCAGGCGTGGGACACCTAACTGGACATAGTTGTGCTGAGCCTGGCAGAAGCTAGGTGGGAAATGCAGCTACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGN
|
pathogenic
| 322,770 |
Mutation at chromosome 22, position 20982520, within LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Noonan_syndrome_2']
|
TACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTG
|
TACTGATGCCCTGGGTATGCCCTCCACATAGATGGTGGGGGTGGTTCTAGGTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGNN
|
pathogenic
| 322,784 |
Is chromosome 22, position 20982570, gene LZTR1 (leucine zipper like post translational regulator 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
GTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGG
|
GTTTCACTCAACACCAGCCAGTTCCCTTATCCTGGTGTGGTGTCAATGAGATTCACCCTCTGGGAGAGAGCTCCCAGGGACTGGGGACAGCCTGGAGGCCACTGGGAGGCTATGAGACAGGGGCAGGCTTCAGGCTGGAAACAATGGAGGACCAGAAGGGGACATGATAAATGACATGCTCTCTCCTTGGCCTTCTCTCCGTTTCTCTCTCTTGCCTTCGTGAAGGCTGTTTGTGCTGCACAGCAAGTACGTGTGTCCTTCATGTTGACCGTTCTGAGCCTTTCCCATGTCAGCCCAGACCCTCCACCCAATGGTCTTATCTCCCTCTGTCCAAGTACACCTCCCTGCTGGGCACTAGGGTCTGGCACAGAACAGACCCCCTGCTGTCCTCAAGGGCCAGCTGTTCAGGGTGCCCAGAGTGGAGAGCCTGTTTTCTTCTGTCTTGACCCCTCCTCCCCTCACTCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGG
|
pathogenic
| 322,792 |
Gene LZTR1 (leucine zipper like post translational regulator 1) variant at chromosome 22, position 20983032—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTG
|
TCCTGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGNNNNNNNN
|
pathogenic
| 322,802 |
Determine whether the variant at chromosome 22, position 20983035, in gene LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGA
|
TGCAGGACTGGCGACATGTCCTGGCTTACGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGANN
|
pathogenic
| 322,803 |
A genetic variant on chromosome 22, position 20983063, affects the gene LZTR1 (leucine zipper like post translational regulator 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
CGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGG
|
CGGGGAAAGGATCCTGAGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCAATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTG
|
pathogenic
| 322,805 |
A genetic alteration at chromosome 22, position 20983087, in gene LZTR1 (leucine zipper like post translational regulator 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGTGTTCAGTGGCGCCATCTTGGCTC
|
TGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGTGTTCAGTGGCGCCATCTTGGCTCN
|
pathogenic
| 322,806 |
Considering the genetic mutation at chromosome 22, position 20983089, impacting LZTR1 (leucine zipper like post translational regulator 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
CAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGTGTTCAGTGGCGCCATCTTGGCTCAC
|
CAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAGGCCAAGCCTTGGGGGCAGGTGCCAATCTCCAGTCCCAGGATCCCCCAGGGCAGAACCTGAGCCCTCCCAGTGCTTGCCTTCAGCCACCTGGCTCCCCTCCTGGGAGGCCTCTGCTGGATCCAGAAGATGCTCAACCCTCAAGGCCTCTGCTGCCACTGACAGCTGGCACTGGAGGCAGGACAAGCCCTGCCTCTTCTCCCTCTATTGGGACTGGTCCCCTGAAGAACCCTGCAACACGTTAAACATTACCGTAAAATTAAAACGCACAAATTTGCAGATCTGTATGACTCCCAGTGTAATTGGGCCAATAGGCACAGGACCAGACCACAGGGAAACAGGCACAATCACAGAATGCCAGGTGCCACACCAAGGAAATTTGGCCTGTGAACGCCCAGAGGAGGTAGCAACTAATTCTGCGCCCCAAGCCCTCCCACATCCCTCTCCCCCTCTGCGATCAGCGAACGCTTTTTGCTTTTGGCTCTGAGTTTTGAAGGAAGGGTATTCCAGGTAGAAGGGACAACATGCCCAAAGGTCTTGAGATAGTAAATGCTCCTTCAGAGGTGGCTCATGCTTGACACTTTGGGGCATTTGCCCACTTAGGGCTGTGGGAGCTGTGTCCTGAGACAGACCCCATGCTTTTCATAGCCGGAGCATTCTCAATCCCCATGTCGGAGGTGAAGGAGCTGAGGCCCTGCTAAGTAGGAATGAGAATCCAGAGGCTCCTCGCCGGGCTGCCTCTCAGTCAGTAAGAAAGCCAAGGGGAGAGGGGAGTTGCTGGGGGTCAGGGCTGAGGGCGCTAGCAGGAAAGGGAGCGTTGAGCCGCCTGCAGAGGCCGCTGCGAGCCCGGAACCCTCCATGGGGGATCCCGGCAGCGGCAGACGATCCAGGCCGGAGCCACGCGCAGACCCAGGGCATGCCGGGAACTGCGAGCCGGCCGCGGGTCTTCGGGCTGCGTGGGCCTGGGAGGCGCCGGGAAGAGCAGTCGCGACGGGGCTAGGGACGACACACTGCATTCACTGGAAGGGACAACGCAGCGCCAGTACATAGCCTGAAACGCTCCCCAGAAGGTCCCACGCTCGCCGCGCGGTCGACAACCGCATCCTGCGCTCGCCCGCGGTGTCTCGGCAAGCGGTAGGCTTGTCGGGAAGAGCTGGAGGGCGCAAGTGCGGCGCTGGCCGGACGTGCCGCACCGTCAGCGCAGGGCTCGCCGGGAAATGTGGTTTCTCCAGCCGGCCCGGGGCGGTGGCCGCAAGTTGGGCTTACAGCGCGGCCGATCCGGCGTGGACCCGGGATGGCTGGACCGGGCAGCACGGGGGGGCAGATCGGGGCTGCGGCCCTGGCAGGCGGCGCGCGGTCCAAGGTAGCCCCGAGCGTGGACTTCGACCATAGCTGCTCGGACAGTGTCGAGTACCTGACGCTCAACTTCGGGCCCTTCGAAACAGTGCATCGCTGGCGGCGCCTCCCGCCCTGCGACGAGTTCGTGGGTGCCCGGTACGGTGGGCTTCATGGGGTCCTGAGGACAGGAAGGGCGATCTGCGAGGGTCCCAGGGCGGGTCCAGGGGCGAAGCCGGGGGGTGGTGTCCTGGGGTAGGATCTGGTAATGAGGTGGATGGTGCTGTACAGGACGCTGTTCAGGGCAGGGGAGAGGGTTCCGAGGGAGTCCCAGAGCCCGATGTCCCGGGACAGGGTACTGGAACTAAGTTGTGTTTGTGGATATTGGGCTGGGGTCCCAGGTGCTCTGAGGTGGGGTGAGGAGTCCAGAGAGTCCTGGAGCCGTGTCAGGGGTCCTCACTTGCAGGATGATTGGTGTTATCTTAGAAGATGATGGATCTTAGCAGTTGAGAGGTGATACCTAACTTCCGTGGCAGCTCTCCTGCTTAGTCCCATTCCTTGGGTGCCCCCCAGGAGGGTCCTGTCCTTACCGCCCTCCACTCCTTTCTTTCCAGGCGCAGCAAGCACACAGTGGTGGCCTATAAAGATGCCATTTATGTATTTGGTGGAGACAATGGGTGAGTCTCAGCATCAGTGTTTGGACCAGGTAGGGAGAAGTACTGTGGTCAGGGACTGGGCCTGTCCAGCTCCATTACTGTCCTTTCAGATGCTAGCTGGTGCCTCTAAGCTTCAGTTTCCCCATCTGTGAGATTCCTTGCACTCACCTCCCTGGTCGTGGTGAGGATTAAATGAGATCCTGCACTCATGGTCCTCAGCACAGCTTCCAGTGGGTGGCACATGCTCAGTATGTGGAAATGTCCCTCTTCTGAGTAGATGCAGCCTTGAAAGAAACACAACCACCCTTGCGGCCAGCCCTGCCAGGCACTTTTCTTTCCCTGTGCCTCATCGGTATGGAGGACACAGTTTTATTTATTTCATGCATTTTTCACTTTTTGTGGGGGTTTTCCCAAATTGCTCCAAACATCAGGCAACAACGTGATGTTTTGTTGGTGGGCACACCTCCTTTCACATAAACTGTCTCCACTTAAGTTGTGGCTGGTTTCCTTATGCAGAGGGTGGAGTATTTGCACATGACTAGTTGTGTCCATGTGTCCTAGCCCTGCCTCTCAGCCCCAGGAACTAGCATGAAGCCCTGGAAGGTCTGGCCTCTTACTGGCTCTGCAGCCTTGGTCCTGTAGGCCTCCTTGGGGGGCGGGCTTGAGGATGGTGGGGTAGTCTGGACCCCACCAGGATCTGCATACTGGGCAGAAGAGCCTCCTTGGGCATGGTCCCCTGGCTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGTGTTCAGTGGCGCCATCTTGGCTCACNNNN
|
benign
| 322,807 |
Evaluate if the mutation on chromosome 22 at position 20985861 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGTGTTCAGTGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGACCTCAAGTGATCCGCCCGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCCATTGTCTCTATTTCTTTTTTTTAAGAAGTGGCAGGAAGATCAGAGAGAAGCAAAGGGCCTCTCCTGAGGCACGGGCAAGCACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGC
|
CTTCAAGCCTGTCTTCCTCCCACTCTCTTTCCCCAGGAGTAGCCGGTGGGGCCCATTTACAAAAGCAAGTCAGAGTATGCTCCTCCTTGGCTCATCCTCCTGTAATGCCTCCCTGCCTCTCTGAGTAAAAGCCCAAGTCCTCATGAGAGTCTGCTGCTCCTCTGCCCTCAGTCCCTCACTGCACTGGGGCGGCACGGGCTGCCTTGCTATGTTTGGATTGTACCAAGTGCCCCCCTGCTCAGGCCCTTGCACTGCCCATTCTCTCCTCTCACCTTCCTGCCCCTCCTCTGATGTTTCTTGTGACTGAGGCCTTACTTGGCCATCTGGACCAACTGGAGACCATTGCTTCCCCTCCATACCTCTTACCATCTTCATTTGTTCCTGAGGCACACAGATGTTGGTTATTATCCATCTCTTCAGTCAAGGCAGGGCCTGTGCTCCTTTTACCATTGTATCCTGGCATCTAGAAAACTCCATAAATGTTTGTCAAATGAAGGAATGAAATGAAGAAGAGATGCCTACCCACAAGCATTTACTGCAGCCTTAATGAGAACCCTCCAAACCAGAAAGGGCTTTAGTGTCCAGTACAAGGCAGCAAGTGGGAAATGGGGGACCTTCATCCTCAAGAGTGTCCTTAGCAGGTAGTTTGTGTGACAACTGTGTAGCAATAAGCAGAAACATTTTTGCTGCAGTATGACAAAGAAATAGGATACAAATTTGTCTCACACTAGTCTTAACTTTATAAAGACTGCCTGAGTACAAAGAAAGATGGCCTCCTGCGGCACGTGGGGCAAGTAAGGAGGGGGGGGGGGCGGTATCACAATCACCACCAGCTTCTAGGCTCCTGGCTTCCTGGCTGCATGGCCTCAGACACAGCCTTTGAGCCACTAGGCTTTGTTGCCATCTGTGAAATGGAGGTGAGAGAGCACCCACTGGTGCAGACTAAGTGAGACCGTTCAGGGGGCACCCAGCACAGGCTGGGCATGACGGGGCACTGGGCTCCTGTCAGTTTGCCCTTCTTCCCAAGGGCTGGGTAGTGATATGCCAGCTGGTAGTGTTAGGTGGTGCAATGGCCAGTGAATTTGTTTTCTATTTGATTGTATGGCTTTTGCAACAAAGAAATGGCAGGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAAGATCACTTGAGGCCAGGCATTCAAGACGAGCCTGGGCAGGAAAGCAAGACTTCGTTTCTATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGTGTTCAGTGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGACCTCAAGTGATCCGCCCGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCAGCCCATTGTCTCTATTTCTTTTTTTTAAGAAGTGGCAGGAAGATCAGAGAGAAGCAAAGGGCCTCTCCTGAGGCACGGGCAAGCACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCN
|
pathogenic
| 322,815 |
Evaluate if the mutation on chromosome 22 at position 20987482 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
GGCAAGCACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGG
|
GGCAAGCACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGNNNNNNNNNNNN
|
benign
| 322,832 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20987488—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
CACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGG
|
CACTTGCATTGCAGGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGNN
|
benign
| 322,833 |
Does the chromosome 22 mutation at position 20987501 within gene LZTR1 (leucine zipper like post translational regulator 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAG
|
GGGTACAGCTGCAGAGGAAGGGGATTGGGACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGN
|
pathogenic
| 322,834 |
Does the variant on chromosome 22 at location 20987529 affecting gene LZTR1 (leucine zipper like post translational regulator 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
GACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCA
|
GACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCC
|
pathogenic
| 322,840 |
Is the chromosome 22, position 20987529 variant in LZTR1 (leucine zipper like post translational regulator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'likely other unspecified diseases']
|
GACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCA
|
GACGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCAN
|
pathogenic
| 322,841 |
Clinical impact (benign or pathogenic) of the variant at chromosome 22, location 20987531, gene LZTR1 (leucine zipper like post translational regulator 1): what disease(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACC
|
CGTGTGAATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCTCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCAC
|
pathogenic
| 322,842 |
The chromosome 22, position 20987538 genetic variant in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
ATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCA
|
ATAGGGGTTCTGGAGGCTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTAACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACC
|
pathogenic
| 322,845 |
Determine whether the variant at chromosome 22, position 20987554, in gene LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Schwannomatosis']
|
CTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTC
|
CTAGGGTGAGGTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCNNNNNNNNNNNNNN
|
pathogenic
| 322,852 |
Variant in LZTR1 (leucine zipper like post translational regulator 1), chromosome 22, position 20987564—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTC
|
GTGTGAGGGTGACTCTGGCCTTTGGGCCATTTCATGCCTTCATGTCAGCTGCTGGTTGGGCTCCTGGTGGCCACATTCATGCTTTGGTCCTGACCCCAGGCAGGCTGGTGTCTGCCTGTGTGGCAGCCCTGGTGCCCATATCAGTTGGGGAGCCTCCTTTGTGGTCACCACTCTTGTTCTTGGGCATCAGCTGGTTGCCTGGCTGTGTTAGTGACCCAGCCCACAACAGCCCCCTACTCTACCCTGGCTACATGCAGTGCCCATCTCTGGGGTCACTGCAGAGTAGACCTGGCTAATGCCACCCTCTCTTCCGGCTGCCTTTCAGGAAGACCATGCTCAATGACCTCCTGCGGTTCGATGTGAAAGACTGCTCCTGGTGCAGGTGGGTGGCCCCGTGCTCCAGGGCCCTGCCTTTCCTCCTAGAACACAGTGGCACAGTGCTGGGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGT
|
pathogenic
| 322,855 |
Considering the variant on chromosome 22, location 20988007, involving gene LZTR1 (leucine zipper like post translational regulator 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_disorder', 'LZTR1-related_schwannomatosis']
|
GGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTG
|
GGTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGNN
|
pathogenic
| 322,862 |
Considering the variant on chromosome 22, location 20988008, involving gene LZTR1 (leucine zipper like post translational regulator 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGG
|
GTCCCAGTTGCTAGCAGAGTCTCTCTCATCATGGGAAGCTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGN
|
pathogenic
| 322,865 |
Clinical classification of chromosome 22, position 20988046, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGG
|
CTAGAAAGAAGCTTCCAGGAGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGN
|
pathogenic
| 322,873 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 20988065, gene LZTR1 (leucine zipper like post translational regulator 1). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
AGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCAT
|
AGGAGATAACCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATNN
|
pathogenic
| 322,878 |
Evaluate the clinical significance of the mutation at chromosome 22, position 20988074 in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAA
|
CCACGGCCTCAGGGATGCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAANNNN
|
pathogenic
| 322,881 |
Is the genetic variant on chromosome 22, position 20988090, gene LZTR1 (leucine zipper like post translational regulator 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis', 'Schwannomatosis']
|
GCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTC
|
GCCACATCCAGAGCCGCCCTGTCAGGCTGAGGAGATCAAGTAACCACCCCGCACCTGCAGCTGCCAAGCTGGGCACACAGGGCGGCACCCTTCTGGGCTGTCCACCTCTACCTCGAGGCTGATGCTAGTATGGGTACAGAAGTTGCTATGTCTTTTCTCTCACACTTGATTTTGTAAGATGGCTAGTAGTTACAAATTAATTTAAAAAATCATTCTGAAGGCTTCACAATTATTTGTCAAAAATTGCTTAAGTATAAAACTCAGAAAAAAGCTAGGAGTTCAAGACCAGCTGGGCAACAAAGTGAGACCCTGTCTAGGAAGATAGATAGACAGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAAAGAAAGATAGATAGATGATAGAAAGACAAAGAGAGATGATAGATAGATGATAGGTAGATTAGACAGATAGATGACAGATAGATAGATAGTGGATAGATGATAGATGACAGATCGATAGATAGATGATAGGTAGATGATAGGTAGGTAGATTAGATAGATGATGGGTAGATAGATGACAGACAATAGATGATAGATGATAGGTAGATAGATGATAGATGACAGATAGATGATGGATAGATTATATAGGTAGATGATAGGTGGATAGATGATGGATATATAGATTATATAGATTAGATGATTGATAGATGATAGGTAGATAGATAGATGATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCN
|
pathogenic
| 322,883 |
The chromosome 22, position 20988794 genetic variant in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['LZTR1-related_schwannomatosis']
|
GATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAA
|
GATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAN
|
pathogenic
| 322,895 |
Regarding the variant found on chromosome 22 at position 20988795 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['LZTR1-related_schwannomatosis']
|
ATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAA
|
ATGGTTAGATAGATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCATGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAA
|
pathogenic
| 322,896 |
Regarding the variant found on chromosome 22 at position 20988807 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
ATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAG
|
ATAGGTATTAAATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCACCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGN
|
pathogenic
| 322,900 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20988817—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic
|
AATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGG
|
AATGAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGN
|
pathogenic
| 322,903 |
Is the chromosome 22, position 20988820 variant in LZTR1 (leucine zipper like post translational regulator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCT
|
GAAATTGATGGACCCCGTGCTGTAAGATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCAGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTNN
|
pathogenic
| 322,904 |
A mutation at chromosome position 20988846 on chromosome 22 in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
ATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATG
|
ATGCTGCACTGCTGCTGAGAGCAGGAGTGTGGATGGTCCTGGAGTAGCATGAGGACCTGGTCACATTCTGTGAGTGGAATAAGCAATTTACAAAATATCTGCCACTTGATTCCATTTTAAAAAATTTCATGGAAGCCTAAGTATGCGTAGGAGAGGTGTGCAGGGAAGACCTCAAGGTGTTGCCAGAGGTTTTCTGGTAATGGGAATTTGCATGAGCTTTAGTGCCTATTTTGTTTTTTCCTTATTGGTGATTTTTTTTTTTTAAGTTTCTATGATGAGACAGGTATCACCTTCAAAATACAAAAGTGAAACGTAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGAACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAATACAAAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGGTGGAGGTTGAGCCGGGATCGTGCCACTGCACTCCAGCCGGGACGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAGGCAGCACAGGGATGCAGGGCCACCCTGTGGGGGTGTGGACCTCATGGGTGACCCCCGCTGACTCTCACCACCCCTGTGCCCACCCCAGGGCCTTTACCACTGGGACCCCACCGGCCCCCCGTTACCACCACTCGGCCGTCGTCTATGGGAGCAGCATGTTTGTCTTTGGTAAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGN
|
pathogenic
| 322,912 |
A mutation at chromosome position 20989634 on chromosome 22 in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
AAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCA
|
AAGCAGCCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCANN
|
pathogenic
| 322,925 |
Gene mutation in LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20989640—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCG
|
CCTCTTGCCTCCCAGGGGCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGCAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGN
|
pathogenic
| 322,926 |
Is the chromosome 22, position 20989657 variant in LZTR1 (leucine zipper like post translational regulator 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGG
|
GCTGTGTCGCCCCGAGGCCCACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATG
|
pathogenic
| 322,928 |
Chromosome 22, position 20989676, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
CACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCT
|
CACAGACACCCTGCCCTTCTGCAGGCCTGGGGCATTTGTGCTCGTGCTGTGTACAGCAGGGGCTCTCTCTCCACCCGTGGCTTTGTCTGCCAGTCTTCGGAATTCTGCGCTGGATCTGGGACCCCTTGCCCTAACGGCCCTGAGCTCACAGGGTTGGGTGTCTTTCTGTGTTACTGAGCTGTGGCTGGGAACAGTGTCCTGCTCATCTCTGTGTCCCCAGAGCCCAGCACAGAGGCAGACAGGCAGCAGGTCGTTCCGGGGCTTGTGGAAGGAGTCCTGGCTTATGCATTTTCAGGGGGGCCAGATTCTGCTCCACCTTCCAGGGTTTGAAATCTCCAAGACTGCCCTTTGGGTTTGACAGTTTCTCACTCTCTTTACTCAGGGGGTTACACTGGGGACATTTATTCCAATTCTAACTTGAAGAATAAAAACGACCTCTTTGAATACAAGTTTGCAACTGGCCAGTGGACGGAGTGGAAAATTGAAGGACGGTGAGAAACTTTGCAGAAACATTTGGGACAGGCTGGGTCCTGGGTGGCATTGGACCTGGGATCTGCCCCCTTTTGCCTCCCAGATGAGGACCCTGAGGGCACGCAATAGCAGGGAGCTTGGGATTGGTGGAATATCCCCCGGTGCAGCTATGCATGGCCTGCTCCCAGCCCTTAGACTCCCTCCTTTCAGAAGAGACCCAAATGGACCAGGCGTGGTGGCGCATGCCTGTAGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 322,934 |
Evaluate this variant at chromosome 22, position 20990397, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['LZTR1-related_schwannomatosis']
|
AGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGG
|
AGTCCTAGTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGN
|
pathogenic
| 322,945 |
Does the chromosome 22 mutation at position 20990404 within gene LZTR1 (leucine zipper like post translational regulator 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
GTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACT
|
GTACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATTCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGAC
|
pathogenic
| 322,947 |
Is chromosome 22, position 20990405, gene LZTR1 (leucine zipper like post translational regulator 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
TACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTG
|
TACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACT
|
pathogenic
| 322,948 |
Regarding the variant found on chromosome 22 at position 20990405 in gene LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTG
|
TACTTTGGGAAGCCGAGGTGGGAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGN
|
pathogenic
| 322,949 |
Gene LZTR1 (leucine zipper like post translational regulator 1) variant at chromosome 22, position 20990426—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCT
|
GAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGC
|
pathogenic
| 322,956 |
Clinical significance of chromosome 22, position 20990426, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCT
|
GAAGATCACTTGAGCCCATGACTTCAAGGCTGCAGTGAACCATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTN
|
pathogenic
| 322,957 |
Does the chromosome 22 mutation at position 20990466 within gene LZTR1 (leucine zipper like post translational regulator 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
CATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCT
|
CATGTGTGCCCCACTGCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCC
|
pathogenic
| 322,966 |
Variant in LZTR1 (leucine zipper like post translational regulator 1), chromosome 22, position 20990481—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAG
|
GCACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGN
|
pathogenic
| 322,973 |
Clinical significance of chromosome 22, position 20990483, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
ACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGC
|
ACTCCAGCCTGGGAGACAGAACAAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTG
|
pathogenic
| 322,974 |
Clinical classification of chromosome 22, position 20990505, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Autism_spectrum_disorder', 'Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_disorder', 'LZTR1-related_schwannomatosis']
|
AAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGC
|
AAGACCTTGTCACAAAAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCN
|
pathogenic
| 322,979 |
Evaluate if the mutation on chromosome 22 at position 20990520 in LZTR1 (leucine zipper like post translational regulator 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
AAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAA
|
AAAAATGTTCAATAAGATCCAATGTACTGCTGATGGCGCTTCTGGGGTCCCGCTTTTTGAGCACCCCCTTTGATATTTTGGGGGCACCTAGGAGAAGGTTCTGTGCCTCTGTGGCTGTCTGAATTCCTCTTCAAGCCACTAGTCGGCCTCTGGGGCTGTTGTTTATTCCTAGTGCCTTGTGGAGGTCCTGAAGCCCCAGTGTCGGGTGGATGTAGCCATGCAGCCTGGCTGTGGCCCCTGCACTGACCACATGGGGCTGGGTGGCTCAGGTCTGTGCTGGGCGGCCTCACTCCCTCCCCTCTTCCCTCACACTCCAGGTTGCCAGTCGCTAGGTCAGCCCATGGGGCCACGGTGTACAGTGACAAGCTGTGGATCTTTGCTGGCTATGACGGCAACGCCAGGTGGGTGGTGGTCCGGCCTGTGCACCCCACCTCCGACAGCACTGAGACCCGGAGCAGGCCGTCCTGGCATTTGAGGGCTTAGGCTGGGAGGATTTTGAGTGCCTGGTGGATTTTGAGTGCCACTCTGTCTGGGGGTTTCTTGGGAGGGGGATGGGGAAAGAGGAGGATGGACAGATGGAGGTGAGGGCCACTGGGTGGAGCCCCGTGGCTACCAGAGTAGCTTGGATGAGGATCCTCAGCCAGGAGTTGCCCTGCGGAGCTGAGTTGGTGGGCGGGTGGGCGGTGCCCAGGCTCAGGCCCAGCCCTGGTTCTTGCCCAGGCCAAAGGCCTTTTCCTCCTTATTTTAGAAAGTTGGCTTTGCTCTCTTTTTCTGATCACAAAAGTAGCATATGCTGGTTTCCCAAAACTTCAGCATCATAGAAACTCCTAACGATGCAGTGATGGTGGCATCTGGGATATCTGTGTCCTCTCCCCACCCAGGAGGGACACTGAGTGAGGAGCTGGCACTGCCACACTGCCCTGATGTCATGCATGAGAGTACTTGTTCTGTCTGGGCCGGGCAGGGGGCCTGGCACAGCAGGGATTTGAGGCAGTGGCTGCCACCCCACACAGAAGTTCCCGCCTCATGGCCGCACAAGTCTCCTACCCTGTGTGGGGGTGGGGCTCCTCCCTGCAGCCATCCCTTCCAGCCAGGACTAGGCCCACCCTGACCACCAGACCCAAGGGGTCCTCACTGGTCTGTCCTAATACAGGTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAANN
|
pathogenic
| 322,982 |
Is the genetic mutation found on chromosome 22 at position 20991673, within the gene LZTR1 (leucine zipper like post translational regulator 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['LZTR1-related_schwannomatosis']
|
GTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCG
|
GTTGAATGACATGTGGACAATTGGCCTCCAGGACCGAGAGCTCACCTGCTGGGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGN
|
pathogenic
| 323,004 |
Considering the variant on chromosome 22, location 20991724, involving gene LZTR1 (leucine zipper like post translational regulator 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_disorder', 'LZTR1-related_schwannomatosis']
|
GGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCG
|
GGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGNN
|
pathogenic
| 323,014 |
For chromosome 22, position 20991730, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCT
|
GGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTAGAGGAGGTGAGGGGCACGGGGAGCCAGGGCGCAGGTGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCC
|
pathogenic
| 323,018 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20991797—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGT
|
TGGAGGAGGTGAGGGGCATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTNNN
|
pathogenic
| 323,032 |
Variant in gene LZTR1 (leucine zipper like post translational regulator 1), located at chromosome 22 position 20991813: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
CATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGC
|
CATGGGGAGACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCNNNNNNNN
|
pathogenic
| 323,036 |
Is the genetic variant on chromosome 22, position 20991821, gene LZTR1 (leucine zipper like post translational regulator 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTC
|
GACAGGGTGCAGGTGGAGGGAGGTGGGAGGCAGGGGGAGCCAGGCTGGGGGTCGAGGCTGCTTTCTTCCCCTTGCAAAGCCCAGCCTCGACCTGAGCCTCGCTCTCCTCCCTGGTGACCTGCGGGCCTTCACGACCAGTTCCTCACTGTGGCTGCACAGTGATTCGAGGTTTGGTGCTTTGGATGGGCAGAGTGCCACGTGTGTGAGGATGTGGTTTTGCTTTAACGCACCCTTTATTTCAGTGCAGTGAGGGCCGTCTGCTATCCAGTGTCCTGCTCCCTGGAGCTCCCCCTGGGCTTGCTTTCCCCTTTAGAAACATGGAATTTATTTATTTATTCATTAAAAAAAATTGTTTTTCAGTCTTCTGGGCATGAAAAACATGAGTTTAGCCCCTGATGATTTAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTC
|
pathogenic
| 323,039 |
Clinical classification of chromosome 22, position 20992222, gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['LZTR1-related_schwannomatosis']
|
TAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAG
|
TAACCCTGACGATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGNNNNNNNN
|
pathogenic
| 323,049 |
Is the genetic variant on chromosome 22, position 20992233, gene LZTR1 (leucine zipper like post translational regulator 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
ATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGG
|
ATTTTAACCCCAGCTGTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGNNNN
|
pathogenic
| 323,050 |
The mutation in gene LZTR1 (leucine zipper like post translational regulator 1) at chromosome 22, position 20992248—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Noonan_syndrome_2']
|
GTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGG
|
GTTCACAACTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGN
|
pathogenic
| 323,053 |
Gene LZTR1 (leucine zipper like post translational regulator 1) variant at chromosome 22, position 20992256—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGT
|
CTGGGCCCCGTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTN
|
pathogenic
| 323,058 |
The mutation impacting LZTR1 (leucine zipper like post translational regulator 1) on chromosome 22 at position 20992265: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
GTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGG
|
GTGAAGTGGATGAGACAGGGCTATGAGCTGTTCCAAGACAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGN
|
pathogenic
| 323,061 |
Is the genetic mutation found on chromosome 22 at position 20992303, within the gene LZTR1 (leucine zipper like post translational regulator 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCC
|
CAAAGGAATCTGTGAATCCTCATCTGGGGAAGTTTCAAGAATAAAAGCAGTCCCATCTCAGCAGTCTCGAGTGTGGTGAAATGTGAGCGGGCCCTGTGAGGCCGGGGCTGAGCTGTCCTCTCCCCCTGCAGGTGGCCCAGAGTGGCGAGATCCCCCCATCTTGCTGCAACTTCCCCGTGGCTGTGTGCCGGGACAAGATGTTTGTATTCTCTGGGCAAAGCGGAGCCAAAATAACCAACAACCTCTTCCAGTTTGAATTCAAGGACAAGACGTGAGTACTCTGGCCAGTGGGGTGGAGGGAGGACGGTCAGTTCCCTCGAATCCTTCTGAATATGAAGAACGCCTCTTGCACCTGGTGGCCATGGTAACCATCCTTGTGAGCTCTGCAAACAGCAGGAGGTTACAGCCCGGAGCAGGGATGTGCGGTGCCCCTGGCAGGTCCCCAGGATATGGCTACAGCTTAGCAAGATAAGGCCTGGCGAGGAGGCCCCTGGCTAGGCCTCCCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCAAGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCC
|
benign
| 323,068 |
Assess the variant on chromosome 22, position 20992806, impacting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
CCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTG
|
CCTCTGAACGTGAAGGACGTCCCCTTCCTCGTGAATAGCTTGGTCAGTGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGN
|
pathogenic
| 323,086 |
Gene LZTR1 (leucine zipper like post translational regulator 1) variant at chromosome 22, position 20992853—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'LZTR1-related_schwannomatosis']
|
TGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGT
|
TGCCACCAGTAACAGACGTGGCCTGCATAGATCTCAAATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTN
|
pathogenic
| 323,096 |
Variant on chromosome 22, at position 20992889, affecting LZTR1 (leucine zipper like post translational regulator 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
AATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCG
|
AATAATGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGTGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGN
|
pathogenic
| 323,104 |
Evaluate the clinical significance of the mutation at chromosome 22, position 20992894 in gene LZTR1 (leucine zipper like post translational regulator 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome']
|
TGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCGC
|
TGGCAGAAGACCAGAGGGGCCTGCAGGTCCTGAGAGGTCTGGCCCATGCTGCCCCTGGCTGCTGGCCAGCCCTTGATCCCTGCAATGGGGCTGCAGGAGAGGGCACAAGGAGTGTGAGCTGCAGGTACAGGGGGTTTGGGAAGGGACTTGGGAGCTTCCCTGGAGGCCACGGGTGCGTGGGAGGAAGGGCAGGGAGCCCCAGGATGAGGGAAATTGTCAAGGGCCTGGGGCTCAGCATGGAGCCAGATGGCATAGCCCTGCCAGGCCAGGATCTGTTCTGAAGTCTTCAGCTAACTTAGCAAAAGAGAGGACTTGCTGGGAGGTACTGGGAAGCCTGGGAGGTGGAAGGTGCTGGGGCAGCATCAGGATGTGGGGTACAGGCAGCTCCCAGGATGGGGACTCAGCTGTGGGGATGCTCTGACTGGGCAGCGTGAACACAGTGACCTGCAATGGTCTCTGCACAACTTTACTCCCCAGAGAGCAGGACTGCCTGGGCGGGTCAGATGCCACCCTCCTGCCCATCACTGCTGCCTGCTCCATGGGGAGAGGGGGGAGCTCTGGCAGGACCCTGCGGTGGGCCACATGGAGCCAGGCAGGGCTGGTGCCCGTGCTGGATGGGGTGAGAGGTGCTCAGCGCAGGTGTCTAGGCCCTCCCTCTGGACCCTGGGCTAGTCACCGTAAGGGATGCAGGGGGACCTCCCAGTGAAGGCCTGCTGTGGGGAGGCCCCGAGGGTGAGCAGGAGCCCCTGTCCCAGCATTGATTCACTGTTGTGTACCCCCAGGTGGACACGCATCCCAACTGAACACCTGCTCCGGGGCTCCCCACCACCCCCGCAGCGGCGCTACGGGCATACCATGGTGGCCTTTGACCGCCACCTCTATGTGTTTGGGGGTGCGGCCGACAACACGCTGCCCAACGAGCTGCACTGCTATGACGTGGACTTCCAGACCTGGGAGGTCGTCCAGCCCAGCTCCGACAGCGAGGTGAGGGTGCCCAGGGGTGTCCTGACCTGCCAGCTGGACACCAGTAGCTCCTACCCTGCTCCCACCCAGCTCCTCACAGCTTTGGGGCCCCCTGGGGTTCCAGACAGCTACCAGGAGCAAGGCCAGGACACCTGGGCCTCAGCCCTGGACACCTGCCCCGGCCTCCAGCCCCAGCTTCACCCCACAGCCTGCAGGTAGTTAACGCTTCACACCCCATCATGGCTGCATGGGGCTGCTGTGCTGCAGACCTTTCCTGGGAAGCCCACGGCCATGCAGCTCTTCCTTCTTTCAGAACCCACTCTCAAGGCCAGGATGGTGGGGGTCTCTGGGCACCTACCTGGCCCTTGCCAACTGGTCTCATGCCCATGTGTCTCCCCTCTTCAGGTTGGTGGGGCTGAAGTGCCCGAGCGAGCCTGTGCTTCCGAGGAGGTGCCCACCCTGACCTATGAGGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGGCACCACCTCAGCCAAGCAGCCCACCCAGCCTGCCTCGGAGGTACAGGCTGGGATCCTCATTAAGACTCCATCACCCCCTGAAACAGGTCCTGTGATCAACACCTCTCACACATGGGGAGACTGAGGCCCCGAGAAATACTTGCTTGGGGTCACACCACAAAGGGGGTACAGGGCCAAGGGCCCTCACCCTGCTGGCCAGGCTGCAGCTTTCTGGGGTGGGTGCCACACACTGGCCCAAGTGCCCTGACCACTCTGAGGGTCTCCATGGCCCGTCATGCCCCACTCGCCTACATGGGTACCAGGTCCCACCTGTGTCTGTACCCAGGGGCCCTCATCCCTTGGGGACCCTGCCCCCTGGCCCTTCATGGCCATGAGGTGCCGCATCCTTGCCTTACCTGGCTGCACCAGCCGCACTGTGGAGGCTCTGCTCCCCCACCATTCCACCCTGCCTTCTTGTCCCCCAGCTGCCCAGTGGGAGGCTCTTCCACGCGGCTGCTGTCATCTCGGACGCCATGTACATCTTCGGGGGCACGGTGGACAACAACATCCGCAGCGGGGAGATGTACCAGGTTCCAGGTGTGGGGCCTGTGGGCCTGTAGAGCCGGCTGGGTGGACGGATCCCCCGTGATGAGAAACTGAGGCCAAGTTGGGGGGCAGGGCTTATCCAGGCCATTGCCAGGGCCACACCTGGCAGGATGGAAGCCTTGGGAGGAGCCCTGTGGGCTGAGGGTGGGCTGAGGTGGCACTAAAGTGGGCAGCCTTCGTGCAGTGGGGCAGGCAGATGGTGCTGGGGCTCACGGCAGAGTCAGTGGAGGGAGCCGGGCCAAGCTGGGCTCAGCACCAGAGCCTCACAGGCATCATAGCCTGGCCCAGGGCAGAGCCAGGGCCGACAGTGGCTTGCGTTGACAGCCCCTTCCCAGGCCTGGAGGAGCAGGTGGTCAGGGCAGGGACTCACAGCCACAGTGAGGTCAGGGCCAGCTTCCTGGAGGAGGTTGGGATGTGCTGGTGGGGGCCAGTGTGAGGACGCAGGTCCAGGCAGAGTGGAGACGGCAGAGCTCTGCTGAGGCCTGGGGCCCAGCCGAAGGCAAGAGAGGCAGGGGAGCCCTTTCCTGCTGTGGAGCCGGCCGTGGACAGTTGCAGGTGCTGAGGCTGGAGCCAGGCTGTATTTTCAGGGTGGGGTAGCGGCTGCTTCCTCTCCTCAGCCAGGCCCACCTGCCTCCTGGGCCCTGAGGGTCAGCATGGGCCAGGTGGGGACCTCAGGGTCGGCCTGCACAGCCACACTGGGGCCACCCTGCTGTCTGCAACATCTAGTCTCACTGGGCCCCTCTTGCAGTTCTCCTGTTACCCTAAATGCACGCTGCACGAGGACTACGGGCGGCTGTGGGAGAGCCGCCAGTTCTGCGACGTGGAGTTCGTGCTGGGTGAGGTGGGTGCCTGTCCTCGCACCCTGCTCTGCCTGCTGTGCCTGGGCAGTGGGAATTTCGCCCCTCAGAAAAACAGCTGCTGGCCTGGTGGTGCTGACCTTGGCTGGCTGGGTCTCTGTTCTCTGGGGCGAGGGTCCTGTGCCCTCTGCCAGTGCATCATTCTTTGTGCAGAAGGAGGAGTGCGTGCAGGGCCACGTAGCCATTGTCACAGCGCGGAGCCGCTGGCTTCGCAGGAAGATCACGCAGGCGCGGGAGAGGCTGGCCCAGGTGAGGTGCCTAACCGCCCTGCCCTGACCTGGCAGCCATGCCTGGTGTCCACTGGGGTGTCCTTGAGCTCCCTTCTCCCCACAGAAGCTGGAGCAGGAGGCCGCCCCAGTTCCCAGGGAGGCCCCCGGCGTGGCTGCTGGTGGGGCCCGGCCGCCCCTGCTGCACGTGGCCATCCGGGAGGCCGAGGCCCGGCCCTTCGAGGTGCTCATGCAGTTCCTCTACACCGACAAGATCAAATACCCACGGAAAGGTCCGCCTGGGTGGGGGTGGAGCAGGGTTGGTGTGGGCTGGGGTGCGGGCAGCAGAGCCAAAAGGTGGGTGCTGCCAGCCCTGCCTTACTGATGGGCCCCCTGAGGCTCAGAGGCTGCAGGTCACCCTCCTTACCCATGATCACTGCAGCTGGACGCCATCTGAGTCCCCCGAGGCCTTGTTCCTACCTAGTGGCCCCAGCCCACACTCTTCCATGGGGGGAGCCCTGCGCCCTGTGCCCTGCCCTCCCCTCTCCGGCTCCCTGAGATTCGGGGGCTCTGGGGCGCAGGCCATGTGGAGGATGTGCTGCTCATCATGGATGTGTACAAACTGGCACTGAGCTTCCAGTTGTGCCGCCTGGAGCAGCTGTGCCGCCAGTACATCGAGGCCTCCGTGGACCTGCAGAACGTGCTGGTTGTGTGCGAGAGTGCCGCCCGGCTGCAGCTGAGCCAACTCAAGGTGTGGGGTGGGGTCAGCGCAATCAGGGTTGGGTGGGGTGTGCTCAGGCTTAGGCCCCCTCCCTGCCCACCACTGTGAGCCCCTCGCCCAGCCTGGGGCCCTGGCTTGACTCTGCCTGCCTGCCTGTGCCTGTCTGCCCCAGGAGCACTGCCTGAACTTCGTGGTAAAGGAGTCCCACTTCAACCAGGTGATCATGATGAAGGAGTTCGAGCG
|
pathogenic
| 323,105 |
Subsets and Splits
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