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
|
|---|---|---|---|---|---|
Mutation found at chromosome 21 position 45477930, gene COL18A1 (collagen type XVIII alpha 1 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Knobloch_syndrome', 'Knobloch_syndrome_1']
|
TGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTATCTTTCTTGCGATCTTAAGTATTTCATTTCACAAACCAAGCAAGTCTCCACCGGGCATCTGCCGGCCGAATAACAGGCCACCTCCCCTCTCGTCCTCCAGGGCGCGGCCCTAAAACCCAGGCTCCCCGCGCCACCCCCCGTCACCACGCCACCCTTGGCTGGAGGCAGCAGCACGGAAGATTCCAGAAGTGAAGAAGTCGAGGAGCAGACCACGGTGGCTTCGTTAGGAGGTAAGCTCTTTTCTGGATGTGGTGTGTGTGTGGTGTGGGGTGTGTGTGGTGTGTAACGTGTGTTTGTGTGATGGTGAGGTATGTGTGTGATGTATGGTGTGTGTAGTGTGTGGTGTATATGGTACATGTGTGTGTGATATGGCACGTGTTTGTGTGAAATATATGGCAGGTGTTTGATGTGTGGTGTGTGATGTGCATGTTTGTGACATGTGTGATGTTTATGTGATGTGTATGTAGTGTGTATGGTGCATGCATGTGGGCATGTGTGTGTGCAGTGTGTGGTGTGTGTATTGTGTGTGGTGTGGTGTGTGTGTTGCGTGTAGTGTACGTGTGTGGTGTGCAGTGCATGTTGTGTTGTATGTGATGTGTAGTGTGCGTATTGTGTGTATGTGTGTGATGTGCATGTGTAATGTACATGTGTGTGATGTGTATTATGTGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGCAGGTGGGGAGATGCCGAGGCCCGGATGGTGGCTCTGGGTACAGGCTCTGGGTGTTCACTGTGCTTCTCTTGCAGGATTTCTGTTGGTTTTCATTTTTATTTTAAGTAAAAGTTAAGAGGGAAAAAGGAAAAGGGACAAAGCATGCTGGGTGATAAGAAGGCATTCTGGGGGGCCAGGGTCTCTTGTAACAAATTCAGGAAGCATCTCCCAGACTTCAGCTGTCATTGGCTTAGATGGCCACACCGGCCTCACTGTTGATTTTAAATTCTGTCTCCCTGTTGCCTTTGCCTGGGAGCTGGAGCTCAGGGGAGTGCGGCCTGAGGCTGGGGATCTGACAGTGTCCAGCCGGGCTCCAGGACTGAAAGCGTTTGGGCTGCCGGGGCCGTCTGGGGTGCCGAGAGCAGAGCTGGGGCCACCCGGGGGGCGTGACCGTGGCCACCTCTGCTTCTCTTCCCAGCTCAGACACTTCCTGGCTCAGATTCTGTCTCCACGTGGGACGGGAGTGTCCGGACCCCTGGGGGCCGCGTGAAAGAGGTAAGGCCACCTCCCTGTGCTCCTGAACCATTCTGAACCAGAGCACCTGTGGCCTTTTGGGCCACTCACTGGTGAGCCCTGATGAAGCCCCTCTGTGCCCGTGCCTCCTTTGTGCCCAGCACTCGGTGCCAGCATGCGTCCACCCTGCGTGTCCACTGTGGGAAGCAGCCCAGCCTGGGACTCTGGAGGGCGCAGCGGGACACGTGGGCAGGGTGTGTGGGGCCCCACCCCAGCCCGAGCCCTGTGTTCTGTTTATTCCCAGGGCGGCCTGAAGGGGCAGAAAGGGGAGCCAGGTGTTCCGGGCCCACCTGGCCGGGCAGGCCCCCCAGGATCCCCATGCCTACCTGGTCCCCCGGGTCTCCCGTGCCCAGTGAGTCCCCTGGGTCCTGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCCCGGGACTCCAGGGGACGTAGGTCCCAAGGGCGACAAGGTGAGTCTCCGTG
|
TGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTATCTTTCTTGCGATCTTAAGTATTTCATTTCACAAACCAAGCAAGTCTCCACCGGGCATCTGCCGGCCGAATAACAGGCCACCTCCCCTCTCGTCCTCCAGGGCGCGGCCCTAAAACCCAGGCTCCCCGCGCCACCCCCCGTCACCACGCCACCCTTGGCTGGAGGCAGCAGCACGGAAGATTCCAGAAGTGAAGAAGTCGAGGAGCAGACCACGGTGGCTTCGTTAGGAGGTAAGCTCTTTTCTGGATGTGGTGTGTGTGTGGTGTGGGGTGTGTGTGGTGTGTAACGTGTGTTTGTGTGATGGTGAGGTATGTGTGTGATGTATGGTGTGTGTAGTGTGTGGTGTATATGGTACATGTGTGTGTGATATGGCACGTGTTTGTGTGAAATATATGGCAGGTGTTTGATGTGTGGTGTGTGATGTGCATGTTTGTGACATGTGTGATGTTTATGTGATGTGTATGTAGTGTGTATGGTGCATGCATGTGGGCATGTGTGTGTGCAGTGTGTGGTGTGTGTATTGTGTGTGGTGTGGTGTGTGTGTTGCGTGTAGTGTACGTGTGTGGTGTGCAGTGCATGTTGTGTTGTATGTGATGTGTAGTGTGCGTATTGTGTGTATGTGTGTGATGTGCATGTGTAATGTACATGTGTGTGATGTGTATTATGTGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGCAGGTGGGGAGATGCCGAGGCCCGGATGGTGGCTCTGGGTACAGGCTCTGGGTGTTCACTGTGCTTCTCTTGCAGGATTTCTGTTGGTTTTCATTTTTATTTTAAGTAAAAGTTAAGAGGGAAAAAGGAAAAGGGACAAAGCATGCTGGGTGATAAGAAGGCATTCTGGGGGGCCAGGGTCTCTTGTAACAAATTCAGGAAGCATCTCCCAGACTTCAGCTGTCATTGGCTTAGATGGCCACACCGGCCTCACTGTTGATTTTAAATTCTGTCTCCCTGTTGCCTTTGCCTGGGAGCTGGAGCTCAGGGGAGTGCGGCCTGAGGCTGGGGATCTGACAGTGTCCAGCCGGGCTCCAGGACTGAAAGCGTTTGGGCTGCCGGGGCCGTCTGGGGTGCCGAGAGCAGAGCTGGGGCCACCCGGGGGGCGTGACCGTGGCCACCTCTGCTTCTCTTCCCAGCTCAGACACTTCCTGGCTCAGATTCTGTCTCCACGTGGGACGGGAGTGTCCGGACCCCTGGGGGCCGCGTGAAAGAGGTAAGGCCACCTCCCTGTGCTCCTGAACCATTCTGAACCAGAGCACCTGTGGCCTTTTGGGCCACTCACTGGTGAGCCCTGATGAAGCCCCTCTGTGCCCGTGCCTCCTTTGTGCCCAGCACTCGGTGCCAGCATGCGTCCACCCTGCGTGTCCACTGTGGGAAGCAGCCCAGCCTGGGACTCTGGAGGGCGCAGCGGGACACGTGGGCAGGGTGTGTGGGGCCCCACCCCAGCCCGAGCCCTGTGTTCTGTTTATTCCCAGGGCGGCCTGAAGGGGCAGAAAGGGGAGCCAGGTGTTCCGGGCCCACCTGGCCGGGCAGGCCCCCCAGGATCCCCATGCCTACCTGGTCCCCCGGGTCTCCCGTGCCCAGTGAGTCCCCTGGGTCCTGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCCCGGGACTCCAGGGGACGTAGGTCCCAAGGGCGACAA
|
pathogenic
| 320,331 |
Gene mutation in COL18A1 (collagen type XVIII alpha 1 chain) at chromosome 21, position 45477979—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
GGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTATCTTTCTTGCGATCTTAAGTATTTCATTTCACAAACCAAGCAAGTCTCCACCGGGCATCTGCCGGCCGAATAACAGGCCACCTCCCCTCTCGTCCTCCAGGGCGCGGCCCTAAAACCCAGGCTCCCCGCGCCACCCCCCGTCACCACGCCACCCTTGGCTGGAGGCAGCAGCACGGAAGATTCCAGAAGTGAAGAAGTCGAGGAGCAGACCACGGTGGCTTCGTTAGGAGGTAAGCTCTTTTCTGGATGTGGTGTGTGTGTGGTGTGGGGTGTGTGTGGTGTGTAACGTGTGTTTGTGTGATGGTGAGGTATGTGTGTGATGTATGGTGTGTGTAGTGTGTGGTGTATATGGTACATGTGTGTGTGATATGGCACGTGTTTGTGTGAAATATATGGCAGGTGTTTGATGTGTGGTGTGTGATGTGCATGTTTGTGACATGTGTGATGTTTATGTGATGTGTATGTAGTGTGTATGGTGCATGCATGTGGGCATGTGTGTGTGCAGTGTGTGGTGTGTGTATTGTGTGTGGTGTGGTGTGTGTGTTGCGTGTAGTGTACGTGTGTGGTGTGCAGTGCATGTTGTGTTGTATGTGATGTGTAGTGTGCGTATTGTGTGTATGTGTGTGATGTGCATGTGTAATGTACATGTGTGTGATGTGTATTATGTGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGCAGGTGGGGAGATGCCGAGGCCCGGATGGTGGCTCTGGGTACAGGCTCTGGGTGTTCACTGTGCTTCTCTTGCAGGATTTCTGTTGGTTTTCATTTTTATTTTAAGTAAAAGTTAAGAGGGAAAAAGGAAAAGGGACAAAGCATGCTGGGTGATAAGAAGGCATTCTGGGGGGCCAGGGTCTCTTGTAACAAATTCAGGAAGCATCTCCCAGACTTCAGCTGTCATTGGCTTAGATGGCCACACCGGCCTCACTGTTGATTTTAAATTCTGTCTCCCTGTTGCCTTTGCCTGGGAGCTGGAGCTCAGGGGAGTGCGGCCTGAGGCTGGGGATCTGACAGTGTCCAGCCGGGCTCCAGGACTGAAAGCGTTTGGGCTGCCGGGGCCGTCTGGGGTGCCGAGAGCAGAGCTGGGGCCACCCGGGGGGCGTGACCGTGGCCACCTCTGCTTCTCTTCCCAGCTCAGACACTTCCTGGCTCAGATTCTGTCTCCACGTGGGACGGGAGTGTCCGGACCCCTGGGGGCCGCGTGAAAGAGGTAAGGCCACCTCCCTGTGCTCCTGAACCATTCTGAACCAGAGCACCTGTGGCCTTTTGGGCCACTCACTGGTGAGCCCTGATGAAGCCCCTCTGTGCCCGTGCCTCCTTTGTGCCCAGCACTCGGTGCCAGCATGCGTCCACCCTGCGTGTCCACTGTGGGAAGCAGCCCAGCCTGGGACTCTGGAGGGCGCAGCGGGACACGTGGGCAGGGTGTGTGGGGCCCCACCCCAGCCCGAGCCCTGTGTTCTGTTTATTCCCAGGGCGGCCTGAAGGGGCAGAAAGGGGAGCCAGGTGTTCCGGGCCCACCTGGCCGGGCAGGCCCCCCAGGATCCCCATGCCTACCTGGTCCCCCGGGTCTCCCGTGCCCAGTGAGTCCCCTGGGTCCTGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCCCGGGACTCCAGGGGACGTAGGTCCCAAGGGCGACAAGGTGAGTCTCCGTGGCTGGGTGGGGCCCCTTCCTGTGTTGGCCCTTGGCTCAAGGTGGGGGCT
|
GGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTATCTTTCTTGCGATCTTAAGTATTTCATTTCACAAACCAAGCAAGTCTCCACCGGGCATCTGCCGGCCGAATAACAGGCCACCTCCCCTCTCGTCCTCCAGGGCGCGGCCCTAAAACCCAGGCTCCCCGCGCCACCCCCCGTCACCACGCCACCCTTGGCTGGAGGCAGCAGCACGGAAGATTCCAGAAGTGAAGAAGTCGAGGAGCAGACCACGGTGGCTTCGTTAGGAGGTAAGCTCTTTTCTGGATGTGGTGTGTGTGTGGTGTGGGGTGTGTGTGGTGTGTAACGTGTGTTTGTGTGATGGTGAGGTATGTGTGTGATGTATGGTGTGTGTAGTGTGTGGTGTATATGGTACATGTGTGTGTGATATGGCACGTGTTTGTGTGAAATATATGGCAGGTGTTTGATGTGTGGTGTGTGATGTGCATGTTTGTGACATGTGTGATGTTTATGTGATGTGTATGTAGTGTGTATGGTGCATGCATGTGGGCATGTGTGTGTGCAGTGTGTGGTGTGTGTATTGTGTGTGGTGTGGTGTGTGTGTTGCGTGTAGTGTACGTGTGTGGTGTGCAGTGCATGTTGTGTTGTATGTGATGTGTAGTGTGCGTATTGTGTGTATGTGTGTGATGTGCATGTGTAATGTACATGTGTGTGATGTGTATTATGTGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGCAGGTGGGGAGATGCCGAGGCCCGGATGGTGGCTCTGGGTACAGGCTCTGGGTGTTCACTGTGCTTCTCTTGCAGGATTTCTGTTGGTTTTCATTTTTATTTTAAGTAAAAGTTAAGAGGGAAAAAGGAAAAGGGACAAAGCATGCTGGGTGATAAGAAGGCATTCTGGGGGGCCAGGGTCTCTTGTAACAAATTCAGGAAGCATCTCCCAGACTTCAGCTGTCATTGGCTTAGATGGCCACACCGGCCTCACTGTTGATTTTAAATTCTGTCTCCCTGTTGCCTTTGCCTGGGAGCTGGAGCTCAGGGGAGTGCGGCCTGAGGCTGGGGATCTGACAGTGTCCAGCCGGGCTCCAGGACTGAAAGCGTTTGGGCTGCCGGGGCCGTCTGGGGTGCCGAGAGCAGAGCTGGGGCCACCCGGGGGGCGTGACCGTGGCCACCTCTGCTTCTCTTCCCAGCTCAGACACTTCCTGGCTCAGATTCTGTCTCCACGTGGGACGGGAGTGTCCGGACCCCTGGGGGCCGCGTGAAAGAGGTAAGGCCACCTCCCTGTGCTCCTGAACCATTCTGAACCAGAGCACCTGTGGCCTTTTGGGCCACTCACTGGTGAGCCCTGATGAAGCCCCTCTGTGCCCGTGCCTCCTTTGTGCCCAGCACTCGGTGCCAGCATGCGTCCACCCTGCGTGTCCACTGTGGGAAGCAGCCCAGCCTGGGACTCTGGAGGGCGCAGCGGGACACGTGGGCAGGGTGTGTGGGGCCCCACCCCAGCCCGAGCCCTGTGTTCTGTTTATTCCCAGGGCGGCCTGAAGGGGCAGAAAGGGGAGCCAGGTGTTCCGGGCCCACCTGGCCGGGCAGGCCCCCCAGGATCCCCATGCCTACCTGGTCCCCCGGGTCTCCCGTGCCCAGTGAGTCCCCTGGGTCCTGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCCCGGGACTCCAGGGGACGTAGGTCCCAAGGGCGACAAGGTGAGTCTCCGTGGCTGGGTGGGGCCCCTTCCTGTGTTGGCCCTTGGCTCAAGGTGGGGGC
|
benign
| 320,333 |
Evaluate if the mutation on chromosome 21 at position 45479923 in COL18A1 (collagen type XVIII alpha 1 chain) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Knobloch_syndrome_1']
|
TGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCCCGGGACTCCAGGGGACGTAGGTCCCAAGGGCGACAAGGTGAGTCTCCGTGGCTGGGTGGGGCCCCTTCCTGTGTTGGCCCTTGGCTCAAGGTGGGGGCTGTGTGCGTGCCCAGGGTATGATAGGCTTGTCTTGTGTTCCCAGGGAGACCCTGGGGTTGGAGAGAGAGGGCCCCCAGGACCCCAAGGGCCTCCAGGGCCCCCAGGACCCTCCTTCAGACACGACAAGCTGGTAAGTCCCGCCCTTGGCTTCCTGCGACCCGGGGTCTGCCCTCCTCAAAAGCAGGCACTGCCTCTGGCCCAGAAGTATCAGCTCCACCCTCAGGGGCTTGCGTGGGGTCTTGGCTGAGCTGAGGGGTCACAGGTGTGGTGGGAGCCCCCATCCACCTGCCTTCAGGCTTCTCTGGGGGCAGCAGAGGGGCCGTGGTTTCTCAGCTCCTTGTAGAAACAGCTCGATATGCAGCTTGCGGGGCAGGGGCCAGGAGTAGGCCAGGCGGGGGGCCGAGCTCAGGGCAACGTGTCTCTCCGGCTCTTTTCCTCAGACCTTCATTGACATGGAGGGATCTGGCTTCGGGGGCGATCTGGAGGCCCTGCGGGTGAGTGGCCCTTAAACTGCAGCGCTGCCCGATGTCTGTGCCCATGAGGAACAGGCCATGGACCCCCAAGATTCAGCTGGGGTCCTGTGGGGGGTGGGGATGAGGCCCGTTCTGGGGGTGGTGGTCATCCCTGGTGGGTGCCACATGGGCTGTGACTATCTGTGTTCGCCCACGTCCAGGGTCCTCGAGGCTTCCCTGGACCTCCCGGACCCCCCGGTGTCCCAGGCCTGCCCGGCGAGCCAGGCCGCTTTGGGGTGAACAGCTCCGACGTCCCAGGACCCGCCGGCCTTCCTGGTGTGCCTGGGCGCGAGGGTCCCCCCGGGTTTCCTGGCCTCCCGGTAAGTCCTGCCTCCACCGTCAGTGTCGGGAGCCCTGTCTGCTGGGAGTGAGGGGTGAACACCCCACATGGGAGCCCCTGCCCCGCCTCAGGCCTCCCCAGTCCCCGCCTCCTCACCTCATCTCCTCTAGGAGCTGGCGGGCAGTTGCTGACTCGGGGCCACCCTGGGGTGTGCGGAAGCACCTGAGTGGCCACCCCATGGTTCTAGGGGTGCTGACCAGTGGGGGTGACCGCAAGCAAGGCCTCCGACCTCTCTGGCCCTGTGGGTCCACGGACTGCACAGAGAGCGTCTCCATGAGCAATTCCCATGGGTGGGTGTGGGAGGGCCGAGGTCAGCATTGCTGGAGGGCCAGGGGAGGGAGGAGCCTGCTTGGCCAACGCGGCTCGTAGGGTCTCAGGTCCCCACGGCAGGCTCCCCACCAGCTCTGCCACACATGACGGGCAGCAGGTCATGACTGGCAGCAGGTGCCTGCCCCACCAGCTGTGCCACACATGATGGGCAGCAGGTCATGACTGGCAGCAGGTGCAGACGTGGCTGCTGTAATTGGGTCATGCTGCACTGGCATCCCGTGGCCTGGGGTCACTCGGTAGCATGCCATGACGTGCAGGGCAGGGAGTGTGGGGTTAGGTCACCCATGACATGCCCCTGCCTCCGTAACAGTCCCTACCTGAGCCAGCCAACCCTACCGATGGGCATTCACCGTCACCATCGGCTCTGAGGCCTCTCTGGGTGCCGCATGGCAAGTGCTCCCCAGAATCCATTCTGAGGGGAATTTGGGCTTAAAGAACATGCCTAATCCATATTCACGCATGTGGCCAGACTGCCTCTCAGAGGGAGCAGCGGCTACCCCAGCCCTGGTGTGCAAGCATCTTCCCGCCGTGGTGCTGTCGGCTCTGCCATCTCATCCTGCCAATGTGGCCGCGAAACTGCGGGCTACGCAGGCTGTGGGGTCTCCCGTGAGCCCTGGGACTCTGGCCCTGTGTCTGGGGAACGTTCTGTGTCCTGCCTTCTGGAAACCTGCGGAAGCCCAGATAACCTGTTAACCCAGAAATCGTTTTAGTGGCCGAATGCCATCAAGACCCACTATGCTCTGCTCTCCCCCAGGGACCCCC
|
TGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCAGGGGACGTAGGTCCCAAGGGCGACAAGGTGAGTCTCCGTGGCTGGGTGGGGCCCCTTCCTGTGTTGGCCCTTGGCTCAAGGTGGGGGCTGTGTGCGTGCCCAGGGTATGATAGGCTTGTCTTGTGTTCCCAGGGAGACCCTGGGGTTGGAGAGAGAGGGCCCCCAGGACCCCAAGGGCCTCCAGGGCCCCCAGGACCCTCCTTCAGACACGACAAGCTGGTAAGTCCCGCCCTTGGCTTCCTGCGACCCGGGGTCTGCCCTCCTCAAAAGCAGGCACTGCCTCTGGCCCAGAAGTATCAGCTCCACCCTCAGGGGCTTGCGTGGGGTCTTGGCTGAGCTGAGGGGTCACAGGTGTGGTGGGAGCCCCCATCCACCTGCCTTCAGGCTTCTCTGGGGGCAGCAGAGGGGCCGTGGTTTCTCAGCTCCTTGTAGAAACAGCTCGATATGCAGCTTGCGGGGCAGGGGCCAGGAGTAGGCCAGGCGGGGGGCCGAGCTCAGGGCAACGTGTCTCTCCGGCTCTTTTCCTCAGACCTTCATTGACATGGAGGGATCTGGCTTCGGGGGCGATCTGGAGGCCCTGCGGGTGAGTGGCCCTTAAACTGCAGCGCTGCCCGATGTCTGTGCCCATGAGGAACAGGCCATGGACCCCCAAGATTCAGCTGGGGTCCTGTGGGGGGTGGGGATGAGGCCCGTTCTGGGGGTGGTGGTCATCCCTGGTGGGTGCCACATGGGCTGTGACTATCTGTGTTCGCCCACGTCCAGGGTCCTCGAGGCTTCCCTGGACCTCCCGGACCCCCCGGTGTCCCAGGCCTGCCCGGCGAGCCAGGCCGCTTTGGGGTGAACAGCTCCGACGTCCCAGGACCCGCCGGCCTTCCTGGTGTGCCTGGGCGCGAGGGTCCCCCCGGGTTTCCTGGCCTCCCGGTAAGTCCTGCCTCCACCGTCAGTGTCGGGAGCCCTGTCTGCTGGGAGTGAGGGGTGAACACCCCACATGGGAGCCCCTGCCCCGCCTCAGGCCTCCCCAGTCCCCGCCTCCTCACCTCATCTCCTCTAGGAGCTGGCGGGCAGTTGCTGACTCGGGGCCACCCTGGGGTGTGCGGAAGCACCTGAGTGGCCACCCCATGGTTCTAGGGGTGCTGACCAGTGGGGGTGACCGCAAGCAAGGCCTCCGACCTCTCTGGCCCTGTGGGTCCACGGACTGCACAGAGAGCGTCTCCATGAGCAATTCCCATGGGTGGGTGTGGGAGGGCCGAGGTCAGCATTGCTGGAGGGCCAGGGGAGGGAGGAGCCTGCTTGGCCAACGCGGCTCGTAGGGTCTCAGGTCCCCACGGCAGGCTCCCCACCAGCTCTGCCACACATGACGGGCAGCAGGTCATGACTGGCAGCAGGTGCCTGCCCCACCAGCTGTGCCACACATGATGGGCAGCAGGTCATGACTGGCAGCAGGTGCAGACGTGGCTGCTGTAATTGGGTCATGCTGCACTGGCATCCCGTGGCCTGGGGTCACTCGGTAGCATGCCATGACGTGCAGGGCAGGGAGTGTGGGGTTAGGTCACCCATGACATGCCCCTGCCTCCGTAACAGTCCCTACCTGAGCCAGCCAACCCTACCGATGGGCATTCACCGTCACCATCGGCTCTGAGGCCTCTCTGGGTGCCGCATGGCAAGTGCTCCCCAGAATCCATTCTGAGGGGAATTTGGGCTTAAAGAACATGCCTAATCCATATTCACGCATGTGGCCAGACTGCCTCTCAGAGGGAGCAGCGGCTACCCCAGCCCTGGTGTGCAAGCATCTTCCCGCCGTGGTGCTGTCGGCTCTGCCATCTCATCCTGCCAATGTGGCCGCGAAACTGCGGGCTACGCAGGCTGTGGGGTCTCCCGTGAGCCCTGGGACTCTGGCCCTGTGTCTGGGGAACGTTCTGTGTCCTGCCTTCTGGAAACCTGCGGAAGCCCAGATAACCTGTTAACCCAGAAATCGTTTTAGTGGCCGAATGCCATCAAGACCCACTATGCTCTGCTCTCCCCCAGGGACCCCCNNNNNNNNNN
|
pathogenic
| 320,339 |
Clinical significance of chromosome 21, position 45480834, gene COL18A1 (collagen type XVIII alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic
|
AGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCCCGGGACTCCAGGGGACGTAGGTCCCAAGGGCGACAAGGTGAGTCTCCGTGGCTGGGTGGGGCCCCTTCCTGTGTTGGCCCTTGGCTCAAGGTGGGGGCTGTGTGCGTGCCCAGGGTATGATAGGCTTGTCTTGTGTTCCCAGGGAGACCCTGGGGTTGGAGAGAGAGGGCCCCCAGGACCCCAAGGGCCTCCAGGGCCCCCAGGACCCTCCTTCAGACACGACAAGCTGGTAAGTCCCGCCCTTGGCTTCCTGCGACCCGGGGTCTGCCCTCCTCAAAAGCAGGCACTGCCTCTGGCCCAGAAGTATCAGCTCCACCCTCAGGGGCTTGCGTGGGGTCTTGGCTGAGCTGAGGGGTCACAGGTGTGGTGGGAGCCCCCATCCACCTGCCTTCAGGCTTCTCTGGGGGCAGCAGAGGGGCCGTGGTTTCTCAGCTCCTTGTAGAAACAGCTCGATATGCAGCTTGCGGGGCAGGGGCCAGGAGTAGGCCAGGCGGGGGGCCGAGCTCAGGGCAACGTGTCTCTCCGGCTCTTTTCCTCAGACCTTCATTGACATGGAGGGATCTGGCTTCGGGGGCGATCTGGAGGCCCTGCGGGTGAGTGGCCCTTAAACTGCAGCGCTGCCCGATGTCTGTGCCCATGAGGAACAGGCCATGGACCCCCAAGATTCAGCTGGGGTCCTGTGGGGGGTGGGGATGAGGCCCGTTCTGGGGGTGGTGGTCATCCCTGGTGGGTGCCACATGGGCTGTGACTATCTGTGTTCGCCCACGTCCAGGGTCCTCGAGGCTTCCCTGGACCTCCCGGACCCCCCGGTGTCCCAGGCCTGCCCGGCGAGCCAGGCCGCTTTGGGGTGAACAGCTCCGACGTCCCAGGACCCGCCGGCCTTCCTGGTGTGCCTGGGCGCGAGGGTCCCCCCGGGTTTCCTGGCCTCCCGGTAAGTCCTGCCTCCACCGTCAGTGTCGGGAGCCCTGTCTGCTGGGAGTGAGGGGTGAACACCCCACATGGGAGCCCCTGCCCCGCCTCAGGCCTCCCCAGTCCCCGCCTCCTCACCTCATCTCCTCTAGGAGCTGGCGGGCAGTTGCTGACTCGGGGCCACCCTGGGGTGTGCGGAAGCACCTGAGTGGCCACCCCATGGTTCTAGGGGTGCTGACCAGTGGGGGTGACCGCAAGCAAGGCCTCCGACCTCTCTGGCCCTGTGGGTCCACGGACTGCACAGAGAGCGTCTCCATGAGCAATTCCCATGGGTGGGTGTGGGAGGGCCGAGGTCAGCATTGCTGGAGGGCCAGGGGAGGGAGGAGCCTGCTTGGCCAACGCGGCTCGTAGGGTCTCAGGTCCCCACGGCAGGCTCCCCACCAGCTCTGCCACACATGACGGGCAGCAGGTCATGACTGGCAGCAGGTGCCTGCCCCACCAGCTGTGCCACACATGATGGGCAGCAGGTCATGACTGGCAGCAGGTGCAGACGTGGCTGCTGTAATTGGGTCATGCTGCACTGGCATCCCGTGGCCTGGGGTCACTCGGTAGCATGCCATGACGTGCAGGGCAGGGAGTGTGGGGTTAGGTCACCCATGACATGCCCCTGCCTCCGTAACAGTCCCTACCTGAGCCAGCCAACCCTACCGATGGGCATTCACCGTCACCATCGGCTCTGAGGCCTCTCTGGGTGCCGCATGGCAAGTGCTCCCCAGAATCCATTCTGAGGGGAATTTGGGCTTAAAGAACATGCCTAATCCATATTCACGCATGTGGCCAGACTGCCTCTCAGAGGGAGCAGCGGCTACCCCAGCCCTGGTGTGCAAGCATCTTCCCGCCGTGGTGCTGTCGGCTCTGCCATCTCATCCTGCCAATGTGGCCGCGAAACTGCGGGCTACGCAGGCTGTGGGGTCTCCCGTGAGCCCTGGGACTCTGGCCCTGTGTCTGGGGAACGTTCTGTGTCCTGCCTTCTGGAAACCTGCGGAAGCCCAGATAACCTGTTAACCCAGAAATCGTTTTAGTGGCCGAATGCCATCAAGACCCACTATGCTCTGCTCTCCCCCAGGGACCCCCAGGCCCTCCGGGAAGAGAGGGGCCCCCAGGAAGGACTGGGCAGAAAGGCAGCCTGGTAAGTCTTCCCTCGAGTCCAGGGTGAGTGGGAACCAGCACCACACCATGTGGCCCGGGTCCGGGGGTGCCTGGTGACGCCCGTGAAGGGGAAATGCCAGGAATAGCCCCCCATCACAGCCCCACAGCCTGGGGCCTCGCGCTCTGGAGGTCACCCTGACCTGGGCGGCTGGGGCTTGGGTAGAAATTCATAACCCTGTGATGATGAGTGGACTCACGGGTTTTAAGAACATGGGCACCCTGCGAGATCTGAGATCTTACTCCAAGCTTCCACGTTGGTTACGGGGCAGTGGCCATGAGCCTCTGTCGGACTGACGCAAGGAGCCGGGGCCCCAGGCGTTTGTGGGTGGACCTGGCGGGAGTCGCCTGCGTCTGGCCCCCTGGGGAGCGGTCTCCAGCATGACCTCAGATGAGAGCTGCACTGCTTTGGACTGAGCAGGGGACGCGGGCTGTAAATGCCCCTCACTGCTCTAAGCCTGTGGCTGAGCTGAAGGGCCCTTCTTGGGGAGGCATCCAGGCCCCAGGCCCCACGTGTAGCCAGGTCCAGCATTGGGACCAGGCTTGGCGTCCCTTGTGGCTTCCCTTTCAGGACCCCAACCACACCAGAAAGGGGGGATGACAGCGGCAACAGCCTCAGAAACTATTAAACCGGCACAGGCAGCAAAGCAGGGACCCGGGTCGGGGCACAGTTCCTGGCAGGGCGATGTGCCTTCCTCTGTCCACTGTGCTGCAAGTCTGATTTTGTCATAATCCTGCTCTTTTCCGTACAGGGTGAAGCAGGCGCCCCAGGACATAAGGTACAAGCAGAATCCCTGGCACATCAGTCCCCTGCCCCTGGTGCCCACTCAGTGCTCGGA
|
AGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCCCGGGACTCCAGGGGACGTAGGTCCCAAGGGCGACAAGGTGAGTCTCCGTGGCTGGGTGGGGCCCCTTCCTGTGTTGGCCCTTGGCTCAAGGTGGGGGCTGTGTGCGTGCCCAGGGTATGATAGGCTTGTCTTGTGTTCCCAGGGAGACCCTGGGGTTGGAGAGAGAGGGCCCCCAGGACCCCAAGGGCCTCCAGGGCCCCCAGGACCCTCCTTCAGACACGACAAGCTGGTAAGTCCCGCCCTTGGCTTCCTGCGACCCGGGGTCTGCCCTCCTCAAAAGCAGGCACTGCCTCTGGCCCAGAAGTATCAGCTCCACCCTCAGGGGCTTGCGTGGGGTCTTGGCTGAGCTGAGGGGTCACAGGTGTGGTGGGAGCCCCCATCCACCTGCCTTCAGGCTTCTCTGGGGGCAGCAGAGGGGCCGTGGTTTCTCAGCTCCTTGTAGAAACAGCTCGATATGCAGCTTGCGGGGCAGGGGCCAGGAGTAGGCCAGGCGGGGGGCCGAGCTCAGGGCAACGTGTCTCTCCGGCTCTTTTCCTCAGACCTTCATTGACATGGAGGGATCTGGCTTCGGGGGCGATCTGGAGGCCCTGCGGGTGAGTGGCCCTTAAACTGCAGCGCTGCCCGATGTCTGTGCCCATGAGGAACAGGCCATGGACCCCCAAGATTCAGCTGGGGTCCTGTGGGGGGTGGGGATGAGGCCCGTTCTGGGGGTGGTGGTCATCCCTGGTGGGTGCCACATGGGCTGTGACTATCTGTGTTCGCCCACGTCCAGGGTCCTCGAGGCTTCCCTGGACCTCCCGGACCCCCCGGTGTCCCAGGCCTGCCCGGCGAGCCAGGCCGCTTTGGGGTGAACAGCTCCGACGTCCCAGGACCCGCCGGCCTTCCTGGTGTGCCTGGGCGCGAGGGTCCCCCGGGTTTCCTGGCCTCCCGGTAAGTCCTGCCTCCACCGTCAGTGTCGGGAGCCCTGTCTGCTGGGAGTGAGGGGTGAACACCCCACATGGGAGCCCCTGCCCCGCCTCAGGCCTCCCCAGTCCCCGCCTCCTCACCTCATCTCCTCTAGGAGCTGGCGGGCAGTTGCTGACTCGGGGCCACCCTGGGGTGTGCGGAAGCACCTGAGTGGCCACCCCATGGTTCTAGGGGTGCTGACCAGTGGGGGTGACCGCAAGCAAGGCCTCCGACCTCTCTGGCCCTGTGGGTCCACGGACTGCACAGAGAGCGTCTCCATGAGCAATTCCCATGGGTGGGTGTGGGAGGGCCGAGGTCAGCATTGCTGGAGGGCCAGGGGAGGGAGGAGCCTGCTTGGCCAACGCGGCTCGTAGGGTCTCAGGTCCCCACGGCAGGCTCCCCACCAGCTCTGCCACACATGACGGGCAGCAGGTCATGACTGGCAGCAGGTGCCTGCCCCACCAGCTGTGCCACACATGATGGGCAGCAGGTCATGACTGGCAGCAGGTGCAGACGTGGCTGCTGTAATTGGGTCATGCTGCACTGGCATCCCGTGGCCTGGGGTCACTCGGTAGCATGCCATGACGTGCAGGGCAGGGAGTGTGGGGTTAGGTCACCCATGACATGCCCCTGCCTCCGTAACAGTCCCTACCTGAGCCAGCCAACCCTACCGATGGGCATTCACCGTCACCATCGGCTCTGAGGCCTCTCTGGGTGCCGCATGGCAAGTGCTCCCCAGAATCCATTCTGAGGGGAATTTGGGCTTAAAGAACATGCCTAATCCATATTCACGCATGTGGCCAGACTGCCTCTCAGAGGGAGCAGCGGCTACCCCAGCCCTGGTGTGCAAGCATCTTCCCGCCGTGGTGCTGTCGGCTCTGCCATCTCATCCTGCCAATGTGGCCGCGAAACTGCGGGCTACGCAGGCTGTGGGGTCTCCCGTGAGCCCTGGGACTCTGGCCCTGTGTCTGGGGAACGTTCTGTGTCCTGCCTTCTGGAAACCTGCGGAAGCCCAGATAACCTGTTAACCCAGAAATCGTTTTAGTGGCCGAATGCCATCAAGACCCACTATGCTCTGCTCTCCCCCAGGGACCCCCAGGCCCTCCGGGAAGAGAGGGGCCCCCAGGAAGGACTGGGCAGAAAGGCAGCCTGGTAAGTCTTCCCTCGAGTCCAGGGTGAGTGGGAACCAGCACCACACCATGTGGCCCGGGTCCGGGGGTGCCTGGTGACGCCCGTGAAGGGGAAATGCCAGGAATAGCCCCCCATCACAGCCCCACAGCCTGGGGCCTCGCGCTCTGGAGGTCACCCTGACCTGGGCGGCTGGGGCTTGGGTAGAAATTCATAACCCTGTGATGATGAGTGGACTCACGGGTTTTAAGAACATGGGCACCCTGCGAGATCTGAGATCTTACTCCAAGCTTCCACGTTGGTTACGGGGCAGTGGCCATGAGCCTCTGTCGGACTGACGCAAGGAGCCGGGGCCCCAGGCGTTTGTGGGTGGACCTGGCGGGAGTCGCCTGCGTCTGGCCCCCTGGGGAGCGGTCTCCAGCATGACCTCAGATGAGAGCTGCACTGCTTTGGACTGAGCAGGGGACGCGGGCTGTAAATGCCCCTCACTGCTCTAAGCCTGTGGCTGAGCTGAAGGGCCCTTCTTGGGGAGGCATCCAGGCCCCAGGCCCCACGTGTAGCCAGGTCCAGCATTGGGACCAGGCTTGGCGTCCCTTGTGGCTTCCCTTTCAGGACCCCAACCACACCAGAAAGGGGGGATGACAGCGGCAACAGCCTCAGAAACTATTAAACCGGCACAGGCAGCAAAGCAGGGACCCGGGTCGGGGCACAGTTCCTGGCAGGGCGATGTGCCTTCCTCTGTCCACTGTGCTGCAAGTCTGATTTTGTCATAATCCTGCTCTTTTCCGTACAGGGTGAAGCAGGCGCCCCAGGACATAAGGTACAAGCAGAATCCCTGGCACATCAGTCCCCTGCCCCTGGTGCCCACTCAGTGCTCGGAN
|
pathogenic
| 320,357 |
Assess the variant on chromosome 21, position 45488455, impacting COL18A1 (collagen type XVIII alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
benign
|
GAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTTTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTTGCCTGCCCGGGAGCCAGGGCTGGAGGTAACGAGGGTGCCCTGTGCACCTCCCGCTGTGCATGTGGGCCTCCCCCTGTGCATGTGGGCCCAACCCCGACCAAGTTCGGGCTCCGTGGCTCTCTCCTCAGTTGTGTTTCTGTGTGGCTGAAATCGTGTCGTAAAGTTAGAAGAAAGGCTGCTGTGGGGCCTGCGTTGCTTGGCAGAATGTTCCTTACCTTTTGATTTGCAGGGTTTAGAAAGCATCATAAGAAAACGTGTCTACGCTGGGGTTGCAGGGCCAGCGGGGGCTGGGCTGGGTCCTGACACGCTCTCCTCACCCCACGCAGGGGAGCAAGGGAGCCCCCGGTCCTGCTGGTGCTCGTGGGGAGAGCGGCCTGGCAGGAGCCCCCGGACCTGCTGGACCACCAGGCCCCCCTGGGCCCCCTGGGCCCCCAGGACCAGGACTCCCCGCTGGATTTGTGAGTACCGCCTACACCTGACCCCCTGGAGAGCCGGGGGCTGCCGTTGCCCCAGCCCTACTACCCCTGGCATCTCACTCACAGAGCAGCACGTCCTGGGCGGTGGCCTTGCTGGCACTGCCTCATCCTGGGATTCCATATTCCGCATGGTGGGGCTCGAGTCTCTCGCCCGTCGCCCGTGCCCCACGGTGCTGATGGGGATCTTGGCCCAGCCATGCCCCAGCACCCGTGCCCTGACCAAGAGCGAATGAGCTGACCCGAGACGGGCTGCCCCGGGGGGGCTCCACCCAGGCCCTGCCACCAGGTAGACAGTCCCCATCTGAGAACGGCGGCTCCCCAGGCCACCGTGGCCCCAAAGCATGTCCCACCCTCCTCTCGGGCAGTGCCACCCCAGGGAGGGGTCCTTCCCTAAGAAGGGACACAGGCCCCTACGTGTCTCGTGTGTCTCTTCCAGGATGACATGGAAGGCTCCGGGGGGCCCTTCTGGTCAACAGCCCGAAGCGCTGATGGGCCACAGGTAGTGTTGTGAGCTGGGCGTGGCCGGCTCTGAGGGGTAAGGGGGTGTTGCCTGGGGCAGGAGAGTGTCCCTGAGAGCCACCGGCCTTGCATGGGATCGGAAGCCGCCCTGCAGAGCCGTGAGGACCACGTGTGGCGGGCGCTGTGCCCCGCGGGCCACCCTTGTTCTTCGGAGATGCCCCTTCATTGAACTAAAGTCACGGGGTGAGGGCCTGGTCTGCAAAGTGGGAGACACTGTGAGTGGTCAAGACAAAGGAACACGGGGCCGCATGCCCCCTGAAAGGCCTTTCTGGGGAAATTCAAGTCATCACATTCTTTTTGTGGCCCCAATTTTTGGTAGTAACAAATGTTTGGCCTGAGTAGAATCTGAAATTCCTATGAAATCTCCACTTTCTTCTACTGTTAACATGTATACTGCTCAGGGTTAGAGCCAGCAAGGAGTGACCAAAATCCCAAAACAACTGTGCTCAGACAGCTCAGACGTGCCAGGGGCAGACCCAGGGGCCACAAGCTCCTTCCTCCCCTGCCCCCACTGTCCCCTCCACACCACCAGCGCTCTCGTGGCGCCAGCATGGAGGAGCCCCCGGGGCCACAGCCCTGCCCAAGAGACACGTGGGGTGGCTGAAGCCACAGCGTCCAGCTTCATGCTCAGAGACTCAGCCTGTTGAGAGCACGGGTGGCTGGGACACATTTCTTACTTGGAGCAAAACGAATGAGAAATTTCAATTAGGCAGAAACTAATTGATTCCATAGTAAGTTAGAATGGCTTTACCATTTTAACTTAGTACATTTCCTTTTACACACGTATTTTGAAGTCTTGACTGTTACTAGCGGGCTTTTCTTGCGGCAGACGCATCTCACAGCAGGGCCTCCAGCTGCACTAACACTGTGTCTCCTCTGCCCTGACAGGGACCTCCCGGCCTGCCGGGACTTAAGGTCAGTGACGGATATGTCTGGGTTTCTGTGGTTGCTGGCTTGGCCCTGTCTCGACATCTTGGGGCTGGGGGAGACAGGGCCTTGCCTCGGGTTTTCTGATGGCAGGAGTAGGATGAATTCATCCTGGGAAGTTTGCAAAATACAGCAAAAAAGCCTGACAGGGAAATAATCGCACACCAACCCCAACCTAGACTTCCAGCGTTAAGGGGCCATTGTCCCGTTCTCTCTCCGAAGCCCAGGAATCAAGATTCCTGGGTTCACACACCTGAAGCATATTCTCAGACTTGGGCCGAAAAGAGGGGCATAGGGGAAGAACTCAGGGTCCCCACCTCAGCCTCAGGGACAGGTGGACTCCTGGGCTCAGGGACAGAGCCGTGGTGACCTTGTAGGACCCAGGAGCTTTGTCCTCTGCTCCCCCCATCCCTGGGGGACACTAGCCCCCAGCCTGGCCCCGAAGACCCCACCCCACCCAGGCCCCGAAGCTCCCAGGGCAGGTGCCTGAGCAGGGAGCCTGGAGCCTCCTCTCCTAGGCCCTGGGCAGCAGCCGCCTTTCACCCCGCTGCGTGCTCATCAAAGCGTCCTCTGCTGCGTGCGGGGCCAAGGGCGCACGGGGCCCACCCTGGGGCTGCACTCTCACGCGTCACCAGCCCCTGCCATGGCACCTGCTCCTTTGAGCTTTGCTTTCATTTGCAAGACATCGGGACACTCAAAAGGCTGACTTATGGGAAGGGCCGTGTGTTTGCTTTCTTAAATTGTTTGAATGAGGCCGTCTCAGCGGGGTTCCTCTTGCAGTCTGCAGTCCTAGTGATGGAATATGTCCCCAGGTTCCGCAGCCGTCCCGGCCGGGTGCCTTCAGCCAGCCTGGGCCCACGGGGTCCCTGCACAAGTTGCTCAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGGTTCAGGGACGTGGCCAGGCAGAGGCAGGGAGGGCCCAGCCGGACACCTGCGGAGATCAGCTCGGGGCGGCCTTCCCCGCTCTTCCTGCCACTGCTTTGTTTCTTTATAATTGAAGACGTGCTGGTTTCAAAGGCAACCCCCAGGATACCCACCTGCAGGGCACCCAACCCCAGGGCACCCCCAGGTTTGACTGCGTCAGGAACATGGCCTTCCTCCCTCCCGGCTGTCTGGCTGTGCAGGCCCCGTCGGCCCCTGCCACCGGCCTCCCGCCTCTCCCTCCTTTTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCACTTGCCCCTCCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCACCTGCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACTCCCCCCGACTCCCCCCTCCCCCCGACTCCCCCCTCCCCCTGACTCCCCCCTCCCCCACTCCTCCATCCCTCCACAGCCCCTGCTCAGGCCCACAGGGGTGAGAGAGAGAAGTCCAGGCCATCGCCACGTCCACGGGTGCCCCGGACTCCTCGTGGGGGTCCCTGCATTCCTGGGCGTGTGGCCAATGCCCTGCGTCCTCCATGTGACCCTTTCAGGGAGAAGTTGGAGCAGATGGAGTCCCCGGGTTCCCCGGCCTCCCTGGCAGAGAGGGCATTGCTGGGCCCCAGGTGAGTTGCCTTGGTGGGCCCAGGGTGCAGGGGGGGCGTGGAGCCCTGAAGGGACTATGCTAAGATGAAAGCTGGCACGAGATGTGCCCTCCCGGGTCCCTGGGTCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCTC
|
GAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTTTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTTGCCTGCCCGGGAGCCAGGGCTGGAGGTAACGAGGGTGCCCTGTGCACCTCCCGCTGTGCATGTGGGCCTCCCCCTGTGCATGTGGGCCCAACCCCGACCAAGTTCGGGCTCCGTGGCTCTCTCCTCAGTTGTGTTTCTGTGTGGCTGAAATCGTGTCGTAAAGTTAGAAGAAAGGCTGCTGTGGGGCCTGCGTTGCTTGGCAGAATGTTCCTTACCTTTTGATTTGCAGGGTTTAGAAAGCATCATAAGAAAACGTGTCTACGCTGGGGTTGCAGGGCCAGCGGGGGCTGGGCTGGGTCCTGACACGCTCTCCTCACCCCACGCAGGGGAGCAAGGGAGCCCCCGGTCCTGCTGGTGCTCGTGGGGAGAGCGGCCTGGCAGGAGCCCCCGGACCTGCTGGACCACCAGGCCCCCCTGGGCCCCCTGGGCCCCCAGGACCAGGACTCCCCGCTGGATTTGTGAGTACCGCCTACACCTGACCCCCTGGAGAGCCGGGGGCTGCCGTTGCCCCAGCCCTACTACCCCTGGCATCTCACTCACAGAGCAGCACGTCCTGGGCGGTGGCCTTGCTGGCACTGCCTCATCCTGGGATTCCATATTCCGCATGGTGGGGCTCGAGTCTCTCGCCCGTCGCCCGTGCCCCACGGTGCTGATGGGGATCTTGGCCCAGCCATGCCCCAGCACCCGTGCCCTGACCAAGAGCGAATGAGCTGACCCGAGACGGGCTGCCCCGGGGGGGCTCCACCCAGGCCCTGCCACCAGGTAGACAGTCCCCATCTGAGAACGGCGGCTCCCCAGGCCACCGTGGCCCCAAAGCATGTCCCACCCTCCTCTCGGGCAGTGCCACCCCAGGGAGGGGTCCTTCCCTAAGAAGGGACACAGGCCCCTACGTGTCTCGTGTGTCTCTTCCAGGATGACATGGAAGGCTCCGGGGGGCCCTTCTGGTCAACAGCCCGAAGCGCTGATGGGCCACAGGTAGTGTTGTGAGCTGGGCGTGGCCGGCTCTGAGGGGTAAGGGGGTGTTGCCTGGGGCAGGAGAGTGTCCCTGAGAGCCACCGGCCTTGCATGGGATCGGAAGCCGCCCTGCAGAGCCGTGAGGACCACGTGTGGCGGGCGCTGTGCCCCGCGGGCCACCCTTGTTCTTCGGAGATGCCCCTTCATTGAACTAAAGTCACGGGGTGAGGGCCTGGTCTGCAAAGTGGGAGACACTGTGAGTGGTCAAGACAAAGGAACACGGGGCCGCATGCCCCCTGAAAGGCCTTTCTGGGGAAATTCAAGTCATCACATTCTTTTTGTGGCCCCAATTTTTGGTAGTAACAAATGTTTGGCCTGAGTAGAATCTGAAATTCCTATGAAATCTCCACTTTCTTCTACTGTTAACATGTATACTGCTCAGGGTTAGAGCCAGCAAGGAGTGACCAAAATCCCAAAACAACTGTGCTCAGACAGCTCAGACGTGCCAGGGGCAGACCCAGGGGCCACAAGCTCCTTCCTCCCCTGCCCCCACTGTCCCCTCCACACCACCAGCGCTCTCGTGGCGCCAGCATGGAGGAGCCCCCGGGGCCACAGCCCTGCCCAAGAGACACGTGGGGTGGCTGAAGCCACAGCGTCCAGCTTCATGCTCAGAGACTCAGCCTGTTGAGAGCACGGGTGGCTGGGACACATTTCTTACTTGGAGCAAAACGAATGAGAAATTTCAATTAGGCAGAAACTAATTGATTCCATAGTAAGTTAGAATGGCTTTACCATTTTAACTTAGTACATTTCCTTTTACACACGTATTTTGAAGTCTTGACTGTTACTAGCGGGCTTTTCTTGCGGCAGACGCATCTCACAGCAGGGCCTCCAGCTGCACTAACACTGTGTCTCCTCTGCCCTGACAGGGACCTCCCGGCCTGCCGGGACTTAAGGTCAGTGACGGATGTCTGGGTTTCTGTGGTTGCTGGCTTGGCCCTGTCTCGACATCTTGGGGCTGGGGGAGACAGGGCCTTGCCTCGGGTTTTCTGATGGCAGGAGTAGGATGAATTCATCCTGGGAAGTTTGCAAAATACAGCAAAAAAGCCTGACAGGGAAATAATCGCACACCAACCCCAACCTAGACTTCCAGCGTTAAGGGGCCATTGTCCCGTTCTCTCTCCGAAGCCCAGGAATCAAGATTCCTGGGTTCACACACCTGAAGCATATTCTCAGACTTGGGCCGAAAAGAGGGGCATAGGGGAAGAACTCAGGGTCCCCACCTCAGCCTCAGGGACAGGTGGACTCCTGGGCTCAGGGACAGAGCCGTGGTGACCTTGTAGGACCCAGGAGCTTTGTCCTCTGCTCCCCCCATCCCTGGGGGACACTAGCCCCCAGCCTGGCCCCGAAGACCCCACCCCACCCAGGCCCCGAAGCTCCCAGGGCAGGTGCCTGAGCAGGGAGCCTGGAGCCTCCTCTCCTAGGCCCTGGGCAGCAGCCGCCTTTCACCCCGCTGCGTGCTCATCAAAGCGTCCTCTGCTGCGTGCGGGGCCAAGGGCGCACGGGGCCCACCCTGGGGCTGCACTCTCACGCGTCACCAGCCCCTGCCATGGCACCTGCTCCTTTGAGCTTTGCTTTCATTTGCAAGACATCGGGACACTCAAAAGGCTGACTTATGGGAAGGGCCGTGTGTTTGCTTTCTTAAATTGTTTGAATGAGGCCGTCTCAGCGGGGTTCCTCTTGCAGTCTGCAGTCCTAGTGATGGAATATGTCCCCAGGTTCCGCAGCCGTCCCGGCCGGGTGCCTTCAGCCAGCCTGGGCCCACGGGGTCCCTGCACAAGTTGCTCAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGGTTCAGGGACGTGGCCAGGCAGAGGCAGGGAGGGCCCAGCCGGACACCTGCGGAGATCAGCTCGGGGCGGCCTTCCCCGCTCTTCCTGCCACTGCTTTGTTTCTTTATAATTGAAGACGTGCTGGTTTCAAAGGCAACCCCCAGGATACCCACCTGCAGGGCACCCAACCCCAGGGCACCCCCAGGTTTGACTGCGTCAGGAACATGGCCTTCCTCCCTCCCGGCTGTCTGGCTGTGCAGGCCCCGTCGGCCCCTGCCACCGGCCTCCCGCCTCTCCCTCCTTTTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCACTTGCCCCTCCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCACCTGCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACTCCCCCCGACTCCCCCCTCCCCCCGACTCCCCCCTCCCCCTGACTCCCCCCTCCCCCACTCCTCCATCCCTCCACAGCCCCTGCTCAGGCCCACAGGGGTGAGAGAGAGAAGTCCAGGCCATCGCCACGTCCACGGGTGCCCCGGACTCCTCGTGGGGGTCCCTGCATTCCTGGGCGTGTGGCCAATGCCCTGCGTCCTCCATGTGACCCTTTCAGGGAGAAGTTGGAGCAGATGGAGTCCCCGGGTTCCCCGGCCTCCCTGGCAGAGAGGGCATTGCTGGGCCCCAGGTGAGTTGCCTTGGTGGGCCCAGGGTGCAGGGGGGGCGTGGAGCCCTGAAGGGACTATGCTAAGATGAAAGCTGGCACGAGATGTGCCCTCCCGGGTCCCTGGGTCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCTCNN
|
benign
| 320,379 |
A genetic variant on chromosome 21, position 45491268, affects the gene COL18A1 (collagen type XVIII alpha 1 chain). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['COL18A1-related_disorder', 'Knobloch_syndrome']
|
CGGGGTTCCTCTTGCAGTCTGCAGTCCTAGTGATGGAATATGTCCCCAGGTTCCGCAGCCGTCCCGGCCGGGTGCCTTCAGCCAGCCTGGGCCCACGGGGTCCCTGCACAAGTTGCTCAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGGTTCAGGGACGTGGCCAGGCAGAGGCAGGGAGGGCCCAGCCGGACACCTGCGGAGATCAGCTCGGGGCGGCCTTCCCCGCTCTTCCTGCCACTGCTTTGTTTCTTTATAATTGAAGACGTGCTGGTTTCAAAGGCAACCCCCAGGATACCCACCTGCAGGGCACCCAACCCCAGGGCACCCCCAGGTTTGACTGCGTCAGGAACATGGCCTTCCTCCCTCCCGGCTGTCTGGCTGTGCAGGCCCCGTCGGCCCCTGCCACCGGCCTCCCGCCTCTCCCTCCTTTTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCACTTGCCCCTCCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCACCTGCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACTCCCCCCGACTCCCCCCTCCCCCCGACTCCCCCCTCCCCCTGACTCCCCCCTCCCCCACTCCTCCATCCCTCCACAGCCCCTGCTCAGGCCCACAGGGGTGAGAGAGAGAAGTCCAGGCCATCGCCACGTCCACGGGTGCCCCGGACTCCTCGTGGGGGTCCCTGCATTCCTGGGCGTGTGGCCAATGCCCTGCGTCCTCCATGTGACCCTTTCAGGGAGAAGTTGGAGCAGATGGAGTCCCCGGGTTCCCCGGCCTCCCTGGCAGAGAGGGCATTGCTGGGCCCCAGGTGAGTTGCCTTGGTGGGCCCAGGGTGCAGGGGGGGCGTGGAGCCCTGAAGGGACTATGCTAAGATGAAAGCTGGCACGAGATGTGCCCTCCCGGGTCCCTGGGTCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCTCTGGGCCTCCGTGTGCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCCTGGGTCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTCGTGTGCCCTCCCAGGTCTCTGGGCCTCCGTGTGCCCACTCCCGGAGCGCCAGGAGTTAAGTATAAGTCTCCGTCAGGGCTCTTGGTGGCTGCCTCCCTCCCAGGCCCCAGCCGGTCGGGAAATAAAGAACCCCACATCTTCATCAGAGCCATCCCTCACGGGGGGCCAGGGGCTCCTGTTTCTGTTGGTGATGAACCATTTCCTTCCTGTCTCTCCAGGGGCCAAAGGGAGACAGAGGCAGCCGGGGAGAAAAGGTGAGTGTCCCTGGGGCGGGTGGATGGGGATGGGGGGCGCTGGGACATCCCAGAAGGTTTGGCCTCAGCTGCCCCAGGTCCGTGCCCCTGCTGCCCATGTGACCTCAGAGACTCAGGGCAAAGACCCTCAAGTTGACAGGGGTGGCTTTCAGGCTGGGGGCAGCGTGTGTGGCTCAACCGTCCCTGTTGGAGCCTGCCCTGCCTGGCAGGGGGCTCCAAGGCCACAGTCCACAGCCCCGGGCGCCTCCTCACCCACCGTGGGCTCTGGGCACCCCCTCCAGGGCTGGGTGGACTCTGGGGTCCTGGCCAGAGCGGTTGAGATGAAATGCCGGACGCGTGGCCTCCTCTTCCAGGGAGATCCAGGGAAGGACGGAGTCGGGCAGCCGGGCCTCCCTGGCCCCCCCGGACCCCCGGGACCTGTGGTCTACGTGTCGGAGCAGGACGTAAGGACGCTGCGTGGGTGGGCACCCAATCTGTCCAGACCCCCCACGGGGTGCAGAGATCCCTCCCCGAGCCCCCCCCACACCCCCACATCCCCCAGGTCAGGACAGGCCCTGACTGCCAGTCTACACTCCACCTCCTCGGTGGGGGCTGCAGACGCCCTCGGTCAGAGACGCCTGGGGAGCCCAGCTCCATGTGGTGTTGGAGACACCGAGGAGAGGGGAGGGCCTGCACAGGGGCCAGTGTTTTTACGTCAAAGGCTCCCATTGGGCTCACTCCCTGTGTCCTTGACACTGTGGCCCCAAAGCTGCATGTAGTCACCCAGCTGCCCCGTCAGAAGAAGCAGATGCACCCTTGGCCCCTCTGGTGAAGGTTGTGTTGGTTCCGGAACCTTCCTCCCCCACTGCGGCCCGTCCATCAGGCCTCTCAGCTGCACCCTCTGCGCCTGCCAGCAGTGCATCCCACTGGTCCCTGTGCCACCCTGGCCTCACAGAGGCAGACGCATCTCCGCCCAGCCACATGGAACACAGGGACCAAGCCCCACTCTGGGCAGGGAGCTGAGCCCTGGGCAGATGCAGGGCCCAGGGCAGCAGAGCTGGGTGTGGCCAGGGGTTCAGATCCCTGCAGAGTTCTCTGTGGCCACCAGTGGAAGGGGGGCTGCCCGGGGCAGAGCTGAGAGCAGGCACCGTCAGCTGTGTGACACTGGACAAGTTACCTAACCCTTGTGCTCCAGCTCCCCACCTAGGAGGTGGGACTCTAACAGTCTTGAGAGGAGGGGTGGAGTTGGGAACAGGCAGGAGAGGGCTTGCCCCAGCACGGCTTTGCTAGGAGCAGGCAGACAGGCATCGGGAGGCAGGGGCAGCCCGAGAGGCCACAGGGACCTCGGCGTGACGGTCAAGACATCAGAACATCAGAAAAGCCTCCCGTAGGCCGAGCCACCTCCGCCGGCAAGCAAGGGAGCGTCTAGCAGAGGCAGGAGCATTTTAAAACAAAATGGAAGTAAAAACCATGGCCCTTAGGGCGTCTGGAGTCTGCATCCAGCTGCTCTGAGCTGAGGGGCGTCTGTGCTGCAGGAGGGATGCCCCAGGCCCAGGAAGACTGGAAAGCAACATTTTCCTTGAATTTCCTGGTTTGGTGTTTTGTTGATCTGTAAGTCGCTCGAGTCCAGTTGAATTTTAAACGCGGCTCTTTGTTTCCGATTTTTCCTTTTGCTCGTGGACAGGGATCCGTCCTGAGCGTGCCGGGACCTGAGGTATGTGCCTGCCCAGCTTCTAAGAGACGGGCCTGCGGGGACCTGGGTACAAGGCTGGGTGGGGTCCGGGCAGGCGCGAGGGTGCGTGATGACCCCAGCTGACGCCGTCCCTCTTTCCCCAGGGCCGGCCGGGTTTCGCAGGCTTTCCCGTGAGTAACCTGGTGCCAGAGCTGCATGCTGCCCGGCTGGGGAGGGGTCTCCACCTGGTAGCACAGAGCAGCCCGGTCGAGCTGGGGTGGGCCTTGTCAGGCCCGAGGGATAGCGACAGTCACTGCCCCCAAGGAAATGATGGGAGTGGGATGTGGGCGAGAGCCGCTGGCAGGCCCTGTGCTGGGTGGGCACCCGTGAGGGTGAGGCAGCTCCTTGCACCTGCAGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGGGAGGTGTCCTGGTGGGGGTCACCTGCGGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGCGAGGGGCCCTGGTCGGGCTGTCGAGGCAGGCATATTGCGGGGGGCAGCTGTCGGGGGAGATGGAGCAGCCGTCGGGGATGGGGGAGATGCCAGCCGCTCGGGCCTCACGGCCTGGCCTCCATTCCAGGGACCTGCAGGACCCAAGGGCAACCTGGGCTCTAAGGGCGAACGAGGCTCCCCGGGACCCAAGGTAAGGGGCTCAGGTGCTGTCCCTCAACCCCCTTTGTGACCCAGGGGTGGCTCCAGCCTGCCCAGATGACCACTGTTGGGAGGGACCTGG
|
CGGGGTTCCTCTTGCAGTCTGCAGTCCTAGTGATGGAATATGTCCCCAGGTTCCGCAGCCGTCCCGGCCGGGTGCCTTCAGCCAGCCTGGGCCCACGGGGTCCCTGCACAAGTTGCTCAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGGTTCAGGGACGTGGCCAGGCAGAGGCAGGGAGGGCCCAGCCGGACACCTGCGGAGATCAGCTCGGGGCGGCCTTCCCCGCTCTTCCTGCCACTGCTTTGTTTCTTTATAATTGAAGACGTGCTGGTTTCAAAGGCAACCCCCAGGATACCCACCTGCAGGGCACCCAACCCCAGGGCACCCCCAGGTTTGACTGCGTCAGGAACATGGCCTTCCTCCCTCCCGGCTGTCTGGCTGTGCAGGCCCCGTCGGCCCCTGCCACCGGCCTCCCGCCTCTCCCTCCTTTTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCACTTGCCCCTCCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCACCTGCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACTCCCCCCGACTCCCCCCTCCCCCCGACTCCCCCCTCCCCCTGACTCCCCCCTCCCCCACTCCTCCATCCCTCCACAGCCCCTGCTCAGGCCCACAGGGGTGAGAGAGAGAAGTCCAGGCCATCGCCACGTCCACGGGTGCCCCGGACTCCTCGTGGGGGTCCCTGCATTCCTGGGCGTGTGGCCAATGCCCTGCGTCCTCCATGTGACCCTTTCAGGGAGAAGTTGGAGCAGATGGAGTCCCCGGGTTCCCCGGCCTCCCTGGCAGAGAGGGCATTGCTGGGCCCCAGGTGAGTTGCCTTGGTGGGCCCAGGGTGCAGGGGGGGCGTGGAGCCCTGAAGGGACTATGCTAAGATGAAAGCTGGCACGAGATGTGCCCTCCCGGGTCCCTGGGTCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCTCTGGGCCTCCGTGTGCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCCTGGGTCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTCGTGTGCCCTCCCAGGTCTCTGGGCCTCCGTGTGCCCACTCCCGGAGCGCCAGGAGTTAAGTATAAGTCTCCGTCAGGGCTCTTGGTGGCTGCCTCCCTCCCAGGCCCCAGCCGGTCGGGAAATAAAGAACCCCACATCTTCATCAGAGCCATCCCTCACGGGGGGCCAGGGGCTCCTGTTTCTGTTGGTGATGAACCATTTCCTTCCTGTCTCTCCAGGGGCCAAAGGGAGACAGAGGCAGCCGGGGAGAAAAGGTGAGTGTCCCTGGGGCGGGTGGATGGGGATGGGGGGCGCTGGGACATCCCAGAAGGTTTGGCCTCAGCTGCCCCAGGTCCGTGCCCCTGCTGCCCATGTGACCTCAGAGACTCAGGGCAAAGACCCTCAAGTTGACAGGGGTGGCTTTCAGGCTGGGGGCAGCGTGTGTGGCTCAACCGTCCCTGTTGGAGCCTGCCCTGCCTGGCAGGGGGCTCCAAGGCCACAGTCCACAGCCCCGGGCGCCTCCTCACCCACCGTGGGCTCTGGGCACCCCCTCCAGGGCTGGGTGGACTCTGGGGTCCTGGCCAGAGCGGTTGAGATGAAATGCCGGACGCGTGGCCTCCTCTTCCAGGGAGATCCAGGGAAGGACGGAGTCGGGCAGCCGGGCCTCCCTGGCCCCCCCCGGACCCCCGGGACCTGTGGTCTACGTGTCGGAGCAGGACGTAAGGACGCTGCGTGGGTGGGCACCCAATCTGTCCAGACCCCCCACGGGGTGCAGAGATCCCTCCCCGAGCCCCCCCCACACCCCCACATCCCCCAGGTCAGGACAGGCCCTGACTGCCAGTCTACACTCCACCTCCTCGGTGGGGGCTGCAGACGCCCTCGGTCAGAGACGCCTGGGGAGCCCAGCTCCATGTGGTGTTGGAGACACCGAGGAGAGGGGAGGGCCTGCACAGGGGCCAGTGTTTTTACGTCAAAGGCTCCCATTGGGCTCACTCCCTGTGTCCTTGACACTGTGGCCCCAAAGCTGCATGTAGTCACCCAGCTGCCCCGTCAGAAGAAGCAGATGCACCCTTGGCCCCTCTGGTGAAGGTTGTGTTGGTTCCGGAACCTTCCTCCCCCACTGCGGCCCGTCCATCAGGCCTCTCAGCTGCACCCTCTGCGCCTGCCAGCAGTGCATCCCACTGGTCCCTGTGCCACCCTGGCCTCACAGAGGCAGACGCATCTCCGCCCAGCCACATGGAACACAGGGACCAAGCCCCACTCTGGGCAGGGAGCTGAGCCCTGGGCAGATGCAGGGCCCAGGGCAGCAGAGCTGGGTGTGGCCAGGGGTTCAGATCCCTGCAGAGTTCTCTGTGGCCACCAGTGGAAGGGGGGCTGCCCGGGGCAGAGCTGAGAGCAGGCACCGTCAGCTGTGTGACACTGGACAAGTTACCTAACCCTTGTGCTCCAGCTCCCCACCTAGGAGGTGGGACTCTAACAGTCTTGAGAGGAGGGGTGGAGTTGGGAACAGGCAGGAGAGGGCTTGCCCCAGCACGGCTTTGCTAGGAGCAGGCAGACAGGCATCGGGAGGCAGGGGCAGCCCGAGAGGCCACAGGGACCTCGGCGTGACGGTCAAGACATCAGAACATCAGAAAAGCCTCCCGTAGGCCGAGCCACCTCCGCCGGCAAGCAAGGGAGCGTCTAGCAGAGGCAGGAGCATTTTAAAACAAAATGGAAGTAAAAACCATGGCCCTTAGGGCGTCTGGAGTCTGCATCCAGCTGCTCTGAGCTGAGGGGCGTCTGTGCTGCAGGAGGGATGCCCCAGGCCCAGGAAGACTGGAAAGCAACATTTTCCTTGAATTTCCTGGTTTGGTGTTTTGTTGATCTGTAAGTCGCTCGAGTCCAGTTGAATTTTAAACGCGGCTCTTTGTTTCCGATTTTTCCTTTTGCTCGTGGACAGGGATCCGTCCTGAGCGTGCCGGGACCTGAGGTATGTGCCTGCCCAGCTTCTAAGAGACGGGCCTGCGGGGACCTGGGTACAAGGCTGGGTGGGGTCCGGGCAGGCGCGAGGGTGCGTGATGACCCCAGCTGACGCCGTCCCTCTTTCCCCAGGGCCGGCCGGGTTTCGCAGGCTTTCCCGTGAGTAACCTGGTGCCAGAGCTGCATGCTGCCCGGCTGGGGAGGGGTCTCCACCTGGTAGCACAGAGCAGCCCGGTCGAGCTGGGGTGGGCCTTGTCAGGCCCGAGGGATAGCGACAGTCACTGCCCCCAAGGAAATGATGGGAGTGGGATGTGGGCGAGAGCCGCTGGCAGGCCCTGTGCTGGGTGGGCACCCGTGAGGGTGAGGCAGCTCCTTGCACCTGCAGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGGGAGGTGTCCTGGTGGGGGTCACCTGCGGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGCGAGGGGCCCTGGTCGGGCTGTCGAGGCAGGCATATTGCGGGGGGCAGCTGTCGGGGGAGATGGAGCAGCCGTCGGGGATGGGGGAGATGCCAGCCGCTCGGGCCTCACGGCCTGGCCTCCATTCCAGGGACCTGCAGGACCCAAGGGCAACCTGGGCTCTAAGGGCGAACGAGGCTCCCCGGGACCCAAGGTAAGGGGCTCAGGTGCTGTCCCTCAACCCCCTTTGTGACCCAGGGGTGGCTCCAGCCTGCCCAGATGACCACTGTTGGGAGGGACCTG
|
pathogenic
| 320,403 |
Is the genetic mutation found on chromosome 21 at position 45491385, within the gene COL18A1 (collagen type XVIII alpha 1 chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGGTTCAGGGACGTGGCCAGGCAGAGGCAGGGAGGGCCCAGCCGGACACCTGCGGAGATCAGCTCGGGGCGGCCTTCCCCGCTCTTCCTGCCACTGCTTTGTTTCTTTATAATTGAAGACGTGCTGGTTTCAAAGGCAACCCCCAGGATACCCACCTGCAGGGCACCCAACCCCAGGGCACCCCCAGGTTTGACTGCGTCAGGAACATGGCCTTCCTCCCTCCCGGCTGTCTGGCTGTGCAGGCCCCGTCGGCCCCTGCCACCGGCCTCCCGCCTCTCCCTCCTTTTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCACTTGCCCCTCCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCACCTGCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACTCCCCCCGACTCCCCCCTCCCCCCGACTCCCCCCTCCCCCTGACTCCCCCCTCCCCCACTCCTCCATCCCTCCACAGCCCCTGCTCAGGCCCACAGGGGTGAGAGAGAGAAGTCCAGGCCATCGCCACGTCCACGGGTGCCCCGGACTCCTCGTGGGGGTCCCTGCATTCCTGGGCGTGTGGCCAATGCCCTGCGTCCTCCATGTGACCCTTTCAGGGAGAAGTTGGAGCAGATGGAGTCCCCGGGTTCCCCGGCCTCCCTGGCAGAGAGGGCATTGCTGGGCCCCAGGTGAGTTGCCTTGGTGGGCCCAGGGTGCAGGGGGGGCGTGGAGCCCTGAAGGGACTATGCTAAGATGAAAGCTGGCACGAGATGTGCCCTCCCGGGTCCCTGGGTCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCTCTGGGCCTCCGTGTGCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCCTGGGTCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTCGTGTGCCCTCCCAGGTCTCTGGGCCTCCGTGTGCCCACTCCCGGAGCGCCAGGAGTTAAGTATAAGTCTCCGTCAGGGCTCTTGGTGGCTGCCTCCCTCCCAGGCCCCAGCCGGTCGGGAAATAAAGAACCCCACATCTTCATCAGAGCCATCCCTCACGGGGGGCCAGGGGCTCCTGTTTCTGTTGGTGATGAACCATTTCCTTCCTGTCTCTCCAGGGGCCAAAGGGAGACAGAGGCAGCCGGGGAGAAAAGGTGAGTGTCCCTGGGGCGGGTGGATGGGGATGGGGGGCGCTGGGACATCCCAGAAGGTTTGGCCTCAGCTGCCCCAGGTCCGTGCCCCTGCTGCCCATGTGACCTCAGAGACTCAGGGCAAAGACCCTCAAGTTGACAGGGGTGGCTTTCAGGCTGGGGGCAGCGTGTGTGGCTCAACCGTCCCTGTTGGAGCCTGCCCTGCCTGGCAGGGGGCTCCAAGGCCACAGTCCACAGCCCCGGGCGCCTCCTCACCCACCGTGGGCTCTGGGCACCCCCTCCAGGGCTGGGTGGACTCTGGGGTCCTGGCCAGAGCGGTTGAGATGAAATGCCGGACGCGTGGCCTCCTCTTCCAGGGAGATCCAGGGAAGGACGGAGTCGGGCAGCCGGGCCTCCCTGGCCCCCCCGGACCCCCGGGACCTGTGGTCTACGTGTCGGAGCAGGACGTAAGGACGCTGCGTGGGTGGGCACCCAATCTGTCCAGACCCCCCACGGGGTGCAGAGATCCCTCCCCGAGCCCCCCCCACACCCCCACATCCCCCAGGTCAGGACAGGCCCTGACTGCCAGTCTACACTCCACCTCCTCGGTGGGGGCTGCAGACGCCCTCGGTCAGAGACGCCTGGGGAGCCCAGCTCCATGTGGTGTTGGAGACACCGAGGAGAGGGGAGGGCCTGCACAGGGGCCAGTGTTTTTACGTCAAAGGCTCCCATTGGGCTCACTCCCTGTGTCCTTGACACTGTGGCCCCAAAGCTGCATGTAGTCACCCAGCTGCCCCGTCAGAAGAAGCAGATGCACCCTTGGCCCCTCTGGTGAAGGTTGTGTTGGTTCCGGAACCTTCCTCCCCCACTGCGGCCCGTCCATCAGGCCTCTCAGCTGCACCCTCTGCGCCTGCCAGCAGTGCATCCCACTGGTCCCTGTGCCACCCTGGCCTCACAGAGGCAGACGCATCTCCGCCCAGCCACATGGAACACAGGGACCAAGCCCCACTCTGGGCAGGGAGCTGAGCCCTGGGCAGATGCAGGGCCCAGGGCAGCAGAGCTGGGTGTGGCCAGGGGTTCAGATCCCTGCAGAGTTCTCTGTGGCCACCAGTGGAAGGGGGGCTGCCCGGGGCAGAGCTGAGAGCAGGCACCGTCAGCTGTGTGACACTGGACAAGTTACCTAACCCTTGTGCTCCAGCTCCCCACCTAGGAGGTGGGACTCTAACAGTCTTGAGAGGAGGGGTGGAGTTGGGAACAGGCAGGAGAGGGCTTGCCCCAGCACGGCTTTGCTAGGAGCAGGCAGACAGGCATCGGGAGGCAGGGGCAGCCCGAGAGGCCACAGGGACCTCGGCGTGACGGTCAAGACATCAGAACATCAGAAAAGCCTCCCGTAGGCCGAGCCACCTCCGCCGGCAAGCAAGGGAGCGTCTAGCAGAGGCAGGAGCATTTTAAAACAAAATGGAAGTAAAAACCATGGCCCTTAGGGCGTCTGGAGTCTGCATCCAGCTGCTCTGAGCTGAGGGGCGTCTGTGCTGCAGGAGGGATGCCCCAGGCCCAGGAAGACTGGAAAGCAACATTTTCCTTGAATTTCCTGGTTTGGTGTTTTGTTGATCTGTAAGTCGCTCGAGTCCAGTTGAATTTTAAACGCGGCTCTTTGTTTCCGATTTTTCCTTTTGCTCGTGGACAGGGATCCGTCCTGAGCGTGCCGGGACCTGAGGTATGTGCCTGCCCAGCTTCTAAGAGACGGGCCTGCGGGGACCTGGGTACAAGGCTGGGTGGGGTCCGGGCAGGCGCGAGGGTGCGTGATGACCCCAGCTGACGCCGTCCCTCTTTCCCCAGGGCCGGCCGGGTTTCGCAGGCTTTCCCGTGAGTAACCTGGTGCCAGAGCTGCATGCTGCCCGGCTGGGGAGGGGTCTCCACCTGGTAGCACAGAGCAGCCCGGTCGAGCTGGGGTGGGCCTTGTCAGGCCCGAGGGATAGCGACAGTCACTGCCCCCAAGGAAATGATGGGAGTGGGATGTGGGCGAGAGCCGCTGGCAGGCCCTGTGCTGGGTGGGCACCCGTGAGGGTGAGGCAGCTCCTTGCACCTGCAGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGGGAGGTGTCCTGGTGGGGGTCACCTGCGGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGCGAGGGGCCCTGGTCGGGCTGTCGAGGCAGGCATATTGCGGGGGGCAGCTGTCGGGGGAGATGGAGCAGCCGTCGGGGATGGGGGAGATGCCAGCCGCTCGGGCCTCACGGCCTGGCCTCCATTCCAGGGACCTGCAGGACCCAAGGGCAACCTGGGCTCTAAGGGCGAACGAGGCTCCCCGGGACCCAAGGTAAGGGGCTCAGGTGCTGTCCCTCAACCCCCTTTGTGACCCAGGGGTGGCTCCAGCCTGCCCAGATGACCACTGTTGGGAGGGACCTGGGACCCCCCGGCTGCTGCTGTGACACGTGAGGGGTACATCCCTGCTCGGGCCGTCCCTGTGGTCACCTCCCGTGAAAGGACCCAGCCTGCGAGGCCCAGTCACAGCGGCCCTGCCTTC
|
CAGTGTCCCTGGGACCCCTCGGCTCTGGGCTGGGGGAGGGCGGTGAGATGCATCCTGGGTAACTCACCCTTCCCTTCACCCGGGGTGGACGCTGCCTGAGGACTGGGCTGGCCCCAGCAGGTGCTCACGGAGCCCCTTTTTTCACTTAGGGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAGGTAAGCGCTGTGCCCGGGTTCAGGGACGTGGCCAGGCAGAGGCAGGGAGGGCCCAGCCGGACACCTGCGGAGATCAGCTCGGGGCGGCCTTCCCCGCTCTTCCTGCCACTGCTTTGTTTCTTTATAATTGAAGACGTGCTGGTTTCAAAGGCAACCCCCAGGATACCCACCTGCAGGGCACCCAACCCCAGGGCACCCCCAGGTTTGACTGCGTCAGGAACATGGCCTTCCTCCCTCCCGGCTGTCTGGCTGTGCAGGCCCCGTCGGCCCCTGCCACCGGCCTCCCGCCTCTCCCTCCTTTTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCACTTGCCCCTCCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCACCTGCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACTCCCCCCGACTCCCCCCTCCCCCCGACTCCCCCCTCCCCCTGACTCCCCCCTCCCCCACTCCTCCATCCCTCCACAGCCCCTGCTCAGGCCCACAGGGGTGAGAGAGAGAAGTCCAGGCCATCGCCACGTCCACGGGTGCCCCGGACTCCTCGTGGGGGTCCCTGCATTCCTGGGCGTGTGGCCAATGCCCTGCGTCCTCCATGTGACCCTTTCAGGGAGAAGTTGGAGCAGATGGAGTCCCCGGGTTCCCCGGCCTCCCTGGCAGAGAGGGCATTGCTGGGCCCCAGGTGAGTTGCCTTGGTGGGCCCAGGGTGCAGGGGGGGCGTGGAGCCCTGAAGGGACTATGCTAAGATGAAAGCTGGCACGAGATGTGCCCTCCCGGGTCCCTGGGTCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCTCTGGGCCTCCGTGTGCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCCTGGGTCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTCGTGTGCCCTCCCAGGTCTCTGGGCCTCCGTGTGCCCACTCCCGGAGCGCCAGGAGTTAAGTATAAGTCTCCGTCAGGGCTCTTGGTGGCTGCCTCCCTCCCAGGCCCCAGCCGGTCGGGAAATAAAGAACCCCACATCTTCATCAGAGCCATCCCTCACGGGGGGCCAGGGGCTCCTGTTTCTGTTGGTGATGAACCATTTCCTTCCTGTCTCTCCAGGGGCCAAAGGGAGACAGAGGCAGCCGGGGAGAAAAGGTGAGTGTCCCTGGGGCGGGTGGATGGGGATGGGGGGCGCTGGGACATCCCAGAAGGTTTGGCCTCAGCTGCCCCAGGTCCGTGCCCCTGCTGCCCATGTGACCTCAGAGACTCAGGGCAAAGACCCTCAAGTTGACAGGGGTGGCTTTCAGGCTGGGGGCAGCGTGTGTGGCTCAACCGTCCCTGTTGGAGCCTGCCCTGCCTGGCAGGGGGCTCCAAGGCCACAGTCCACAGCCCCGGGCGCCTCCTCACCCACCGTGGGCTCTGGGCACCCCCTCCAGGGCTGGGTGGACTCTGGGGTCCTGGCCAGAGCGGTTGAGATGAAATGCCGGACGCGTGGCCTCCTCTTCCAGGGAGATCCAGGGAAGGACGGAGTCGGGCAGCCGGGCCTCCCTGGCCCCCCCGGACCCCCGGGACCTGTGGTCTACGTGTCGGAGCAGGACGTAAGGACGCTGCGTGGGTGGGCACCCAATCTGTCCAGACCCCCCACGGGGTGCAGAGATCCCTCCCCGAGCCCCCCCCCACACCCCCACATCCCCCAGGTCAGGACAGGCCCTGACTGCCAGTCTACACTCCACCTCCTCGGTGGGGGCTGCAGACGCCCTCGGTCAGAGACGCCTGGGGAGCCCAGCTCCATGTGGTGTTGGAGACACCGAGGAGAGGGGAGGGCCTGCACAGGGGCCAGTGTTTTTACGTCAAAGGCTCCCATTGGGCTCACTCCCTGTGTCCTTGACACTGTGGCCCCAAAGCTGCATGTAGTCACCCAGCTGCCCCGTCAGAAGAAGCAGATGCACCCTTGGCCCCTCTGGTGAAGGTTGTGTTGGTTCCGGAACCTTCCTCCCCCACTGCGGCCCGTCCATCAGGCCTCTCAGCTGCACCCTCTGCGCCTGCCAGCAGTGCATCCCACTGGTCCCTGTGCCACCCTGGCCTCACAGAGGCAGACGCATCTCCGCCCAGCCACATGGAACACAGGGACCAAGCCCCACTCTGGGCAGGGAGCTGAGCCCTGGGCAGATGCAGGGCCCAGGGCAGCAGAGCTGGGTGTGGCCAGGGGTTCAGATCCCTGCAGAGTTCTCTGTGGCCACCAGTGGAAGGGGGGCTGCCCGGGGCAGAGCTGAGAGCAGGCACCGTCAGCTGTGTGACACTGGACAAGTTACCTAACCCTTGTGCTCCAGCTCCCCACCTAGGAGGTGGGACTCTAACAGTCTTGAGAGGAGGGGTGGAGTTGGGAACAGGCAGGAGAGGGCTTGCCCCAGCACGGCTTTGCTAGGAGCAGGCAGACAGGCATCGGGAGGCAGGGGCAGCCCGAGAGGCCACAGGGACCTCGGCGTGACGGTCAAGACATCAGAACATCAGAAAAGCCTCCCGTAGGCCGAGCCACCTCCGCCGGCAAGCAAGGGAGCGTCTAGCAGAGGCAGGAGCATTTTAAAACAAAATGGAAGTAAAAACCATGGCCCTTAGGGCGTCTGGAGTCTGCATCCAGCTGCTCTGAGCTGAGGGGCGTCTGTGCTGCAGGAGGGATGCCCCAGGCCCAGGAAGACTGGAAAGCAACATTTTCCTTGAATTTCCTGGTTTGGTGTTTTGTTGATCTGTAAGTCGCTCGAGTCCAGTTGAATTTTAAACGCGGCTCTTTGTTTCCGATTTTTCCTTTTGCTCGTGGACAGGGATCCGTCCTGAGCGTGCCGGGACCTGAGGTATGTGCCTGCCCAGCTTCTAAGAGACGGGCCTGCGGGGACCTGGGTACAAGGCTGGGTGGGGTCCGGGCAGGCGCGAGGGTGCGTGATGACCCCAGCTGACGCCGTCCCTCTTTCCCCAGGGCCGGCCGGGTTTCGCAGGCTTTCCCGTGAGTAACCTGGTGCCAGAGCTGCATGCTGCCCGGCTGGGGAGGGGTCTCCACCTGGTAGCACAGAGCAGCCCGGTCGAGCTGGGGTGGGCCTTGTCAGGCCCGAGGGATAGCGACAGTCACTGCCCCCAAGGAAATGATGGGAGTGGGATGTGGGCGAGAGCCGCTGGCAGGCCCTGTGCTGGGTGGGCACCCGTGAGGGTGAGGCAGCTCCTTGCACCTGCAGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGGGAGGTGTCCTGGTGGGGGTCACCTGCGGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGCGAGGGGCCCTGGTCGGGCTGTCGAGGCAGGCATATTGCGGGGGGCAGCTGTCGGGGGAGATGGAGCAGCCGTCGGGGATGGGGGAGATGCCAGCCGCTCGGGCCTCACGGCCTGGCCTCCATTCCAGGGACCTGCAGGACCCAAGGGCAACCTGGGCTCTAAGGGCGAACGAGGCTCCCCGGGACCCAAGGTAAGGGGCTCAGGTGCTGTCCCTCAACCCCCTTTGTGACCCAGGGGTGGCTCCAGCCTGCCCAGATGACCACTGTTGGGAGGGACCTGGGACCCCCCGGCTGCTGCTGTGACACGTGAGGGGTACATCCCTGCTCGGGCCGTCCCTGTGGTCACCTCCCGTGAAAGGACCCAGCCTGCGAGGCCCAGTCACAGCGGCCCTGCCTT
|
benign
| 320,409 |
Does the variant on chromosome 21 at location 45492744 affecting gene COL18A1 (collagen type XVIII alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
CTCTTGGTGGCTGCCTCCCTCCCAGGCCCCAGCCGGTCGGGAAATAAAGAACCCCACATCTTCATCAGAGCCATCCCTCACGGGGGGCCAGGGGCTCCTGTTTCTGTTGGTGATGAACCATTTCCTTCCTGTCTCTCCAGGGGCCAAAGGGAGACAGAGGCAGCCGGGGAGAAAAGGTGAGTGTCCCTGGGGCGGGTGGATGGGGATGGGGGGCGCTGGGACATCCCAGAAGGTTTGGCCTCAGCTGCCCCAGGTCCGTGCCCCTGCTGCCCATGTGACCTCAGAGACTCAGGGCAAAGACCCTCAAGTTGACAGGGGTGGCTTTCAGGCTGGGGGCAGCGTGTGTGGCTCAACCGTCCCTGTTGGAGCCTGCCCTGCCTGGCAGGGGGCTCCAAGGCCACAGTCCACAGCCCCGGGCGCCTCCTCACCCACCGTGGGCTCTGGGCACCCCCTCCAGGGCTGGGTGGACTCTGGGGTCCTGGCCAGAGCGGTTGAGATGAAATGCCGGACGCGTGGCCTCCTCTTCCAGGGAGATCCAGGGAAGGACGGAGTCGGGCAGCCGGGCCTCCCTGGCCCCCCCGGACCCCCGGGACCTGTGGTCTACGTGTCGGAGCAGGACGTAAGGACGCTGCGTGGGTGGGCACCCAATCTGTCCAGACCCCCCACGGGGTGCAGAGATCCCTCCCCGAGCCCCCCCCACACCCCCACATCCCCCAGGTCAGGACAGGCCCTGACTGCCAGTCTACACTCCACCTCCTCGGTGGGGGCTGCAGACGCCCTCGGTCAGAGACGCCTGGGGAGCCCAGCTCCATGTGGTGTTGGAGACACCGAGGAGAGGGGAGGGCCTGCACAGGGGCCAGTGTTTTTACGTCAAAGGCTCCCATTGGGCTCACTCCCTGTGTCCTTGACACTGTGGCCCCAAAGCTGCATGTAGTCACCCAGCTGCCCCGTCAGAAGAAGCAGATGCACCCTTGGCCCCTCTGGTGAAGGTTGTGTTGGTTCCGGAACCTTCCTCCCCCACTGCGGCCCGTCCATCAGGCCTCTCAGCTGCACCCTCTGCGCCTGCCAGCAGTGCATCCCACTGGTCCCTGTGCCACCCTGGCCTCACAGAGGCAGACGCATCTCCGCCCAGCCACATGGAACACAGGGACCAAGCCCCACTCTGGGCAGGGAGCTGAGCCCTGGGCAGATGCAGGGCCCAGGGCAGCAGAGCTGGGTGTGGCCAGGGGTTCAGATCCCTGCAGAGTTCTCTGTGGCCACCAGTGGAAGGGGGGCTGCCCGGGGCAGAGCTGAGAGCAGGCACCGTCAGCTGTGTGACACTGGACAAGTTACCTAACCCTTGTGCTCCAGCTCCCCACCTAGGAGGTGGGACTCTAACAGTCTTGAGAGGAGGGGTGGAGTTGGGAACAGGCAGGAGAGGGCTTGCCCCAGCACGGCTTTGCTAGGAGCAGGCAGACAGGCATCGGGAGGCAGGGGCAGCCCGAGAGGCCACAGGGACCTCGGCGTGACGGTCAAGACATCAGAACATCAGAAAAGCCTCCCGTAGGCCGAGCCACCTCCGCCGGCAAGCAAGGGAGCGTCTAGCAGAGGCAGGAGCATTTTAAAACAAAATGGAAGTAAAAACCATGGCCCTTAGGGCGTCTGGAGTCTGCATCCAGCTGCTCTGAGCTGAGGGGCGTCTGTGCTGCAGGAGGGATGCCCCAGGCCCAGGAAGACTGGAAAGCAACATTTTCCTTGAATTTCCTGGTTTGGTGTTTTGTTGATCTGTAAGTCGCTCGAGTCCAGTTGAATTTTAAACGCGGCTCTTTGTTTCCGATTTTTCCTTTTGCTCGTGGACAGGGATCCGTCCTGAGCGTGCCGGGACCTGAGGTATGTGCCTGCCCAGCTTCTAAGAGACGGGCCTGCGGGGACCTGGGTACAAGGCTGGGTGGGGTCCGGGCAGGCGCGAGGGTGCGTGATGACCCCAGCTGACGCCGTCCCTCTTTCCCCAGGGCCGGCCGGGTTTCGCAGGCTTTCCCGTGAGTAACCTGGTGCCAGAGCTGCATGCTGCCCGGCTGGGGAGGGGTCTCCACCTGGTAGCACAGAGCAGCCCGGTCGAGCTGGGGTGGGCCTTGTCAGGCCCGAGGGATAGCGACAGTCACTGCCCCCAAGGAAATGATGGGAGTGGGATGTGGGCGAGAGCCGCTGGCAGGCCCTGTGCTGGGTGGGCACCCGTGAGGGTGAGGCAGCTCCTTGCACCTGCAGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGGGAGGTGTCCTGGTGGGGGTCACCTGCGGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGCGAGGGGCCCTGGTCGGGCTGTCGAGGCAGGCATATTGCGGGGGGCAGCTGTCGGGGGAGATGGAGCAGCCGTCGGGGATGGGGGAGATGCCAGCCGCTCGGGCCTCACGGCCTGGCCTCCATTCCAGGGACCTGCAGGACCCAAGGGCAACCTGGGCTCTAAGGGCGAACGAGGCTCCCCGGGACCCAAGGTAAGGGGCTCAGGTGCTGTCCCTCAACCCCCTTTGTGACCCAGGGGTGGCTCCAGCCTGCCCAGATGACCACTGTTGGGAGGGACCTGGGACCCCCCGGCTGCTGCTGTGACACGTGAGGGGTACATCCCTGCTCGGGCCGTCCCTGTGGTCACCTCCCGTGAAAGGACCCAGCCTGCGAGGCCCAGTCACAGCGGCCCTGCCTTCGGGGCTCTGGGTGAGGCTTTGTGGGGAAGGAGCTGGCCCTGACTCTGCTGGACCTCCTGCCATTCCAGGGTGAGAAGGGTGAACCGGGCAGCATCTTCAGCCCCGACGGCGGTGCCCTGGGCCCTGCCCAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTCCTTCCGGCAGGCGTGGGGGCTCCTGGGGCTGTGGAGACAGCCTGGGGAGGGTCTTCCTGAGGGTCTGGCTCCTGATGCACGAGCCTCTCCCAAGCAGGGCTCTACCATCCAGGCCTGGCCCTGGTGGCCCCTCCTTTCTCGCACCCATGTCGGCGGTTCCGCCGGCCCCTCGTCCTCTCCCTGCCCCTCGTCCTCTCCCTACCCCTGAGCCCACCCTGCTGAGGGGAGGTTCTCAGTGGGCTGCAGCTCTGAGCTCGCGCCTCCCTGGGGCCTGGCCTGTGGGGTGCAGGAGCCCAGGCTGTACCAGCTCAGCCTCAGCAGGTTTCTGGCTGCCCCTCCAGCCTCTTCCTGGGGGCCCTGATGCTGTGGGCAGGGCCCGGAGTCAGTTCCTCAAGGGGCCTGTGCCTGCGTCCCCACCCCCAGCAGGCAGCCGCCCAGAAAAGCCCTCGGGGAGGGTCCTGGGGAGAAGCCTGGATCTTTGGAGTGTGGGCCACCGGCTCTCCCACTTTCAGAGGGAGCAGTGAGCCCTCCGGGGTGTTTGGGGTGGGCCTCAGACACAGGATCCCCAGGCCCAGTGAGAGCTCCACTATCCCACCCAGCTGTGCATTGGAGCTGGGGCCTGTGGCAACCAGGACACTGCGTGGCACATGCCCTCCACCCTCCACCCTCCACCCCTGCTTCAGGGTCCCGGGGCATGCATGCACGCACCAACCTGGACGCAAACCCCAAACCCGACCCTCCCCTCACCAGTGGCTCCTGTCCTCCCCAGGGCTGCCTGCGCCTTGGGGACGGCCCAGTGCACCCAAAGGGACCACAGCGGCCCTTAGGGAGGCTATCAGGTGGGGCACAAGCCGCCACCTAACCGTGCCTTCGCCACAGGGGCCCTCAGAGAGGCTGCCAGGTGGGGCACAAGCTGCCACCTAACCCTGTCTTCTTGTTTTTTTGCTCAGGGAGAGCCGGGCTTCCGAGGACCCCCGGTAAGTCGGTCCCTGGCTTTCTCTGCACTGAGCTCGGGCATGACGGCCCCCAAGGACACGGTCGCCCGCGGCTGCTGAGCTTGTGCTGTGCGGCCCAGGGCTCATCTCCCTAGTGCAGTTTTAAAGCGTGTGGGGCAGGTGTCGGCGTGAGGCTGCAGTGGGCTCCTCCGAGCTGATGGGTGGCCCAGGGTGCTGTGCTCTGCATGGCCCCTCCCCTTCC
|
CTCTTGGTGGCTGCCTCCCTCCCAGGCCCCAGCCGGTCGGGAAATAAAGAACCCCACATCTTCATCAGAGCCATCCCTCACGGGGGGCCAGGGGCTCCTGTTTCTGTTGGTGATGAACCATTTCCTTCCTGTCTCTCCAGGGGCCAAAGGGAGACAGAGGCAGCCGGGGAGAAAAGGTGAGTGTCCCTGGGGCGGGTGGATGGGGATGGGGGGCGCTGGGACATCCCAGAAGGTTTGGCCTCAGCTGCCCCAGGTCCGTGCCCCTGCTGCCCATGTGACCTCAGAGACTCAGGGCAAAGACCCTCAAGTTGACAGGGGTGGCTTTCAGGCTGGGGGCAGCGTGTGTGGCTCAACCGTCCCTGTTGGAGCCTGCCCTGCCTGGCAGGGGGCTCCAAGGCCACAGTCCACAGCCCCGGGCGCCTCCTCACCCACCGTGGGCTCTGGGCACCCCCTCCAGGGCTGGGTGGACTCTGGGGTCCTGGCCAGAGCGGTTGAGATGAAATGCCGGACGCGTGGCCTCCTCTTCCAGGGAGATCCAGGGAAGGACGGAGTCGGGCAGCCGGGCCTCCCTGGCCCCCCCGGACCCCCGGGACCTGTGGTCTACGTGTCGGAGCAGGACGTAAGGACGCTGCGTGGGTGGGCACCCAATCTGTCCAGACCCCCCACGGGGTGCAGAGATCCCTCCCCGAGCCCCCCCCACACCCCCACATCCCCCAGGTCAGGACAGGCCCTGACTGCCAGTCTACACTCCACCTCCTCGGTGGGGGCTGCAGACGCCCTCGGTCAGAGACGCCTGGGGAGCCCAGCTCCATGTGGTGTTGGAGACACCGAGGAGAGGGGAGGGCCTGCACAGGGGCCAGTGTTTTTACGTCAAAGGCTCCCATTGGGCTCACTCCCTGTGTCCTTGACACTGTGGCCCCAAAGCTGCATGTAGTCACCCAGCTGCCCCGTCAGAAGAAGCAGATGCACCCTTGGCCCCTCTGGTGAAGGTTGTGTTGGTTCCGGAACCTTCCTCCCCCACTGCGGCCCGTCCATCAGGCCTCTCAGCTGCACCCTCTGCGCCTGCCAGCAGTGCATCCCACTGGTCCCTGTGCCACCCTGGCCTCACAGAGGCAGACGCATCTCCGCCCAGCCACATGGAACACAGGGACCAAGCCCCACTCTGGGCAGGGAGCTGAGCCCTGGGCAGATGCAGGGCCCAGGGCAGCAGAGCTGGGTGTGGCCAGGGGTTCAGATCCCTGCAGAGTTCTCTGTGGCCACCAGTGGAAGGGGGGCTGCCCGGGGCAGAGCTGAGAGCAGGCACCGTCAGCTGTGTGACACTGGACAAGTTACCTAACCCTTGTGCTCCAGCTCCCCACCTAGGAGGTGGGACTCTAACAGTCTTGAGAGGAGGGGTGGAGTTGGGAACAGGCAGGAGAGGGCTTGCCCCAGCACGGCTTTGCTAGGAGCAGGCAGACAGGCATCGGGAGGCAGGGGCAGCCCGAGAGGCCACAGGGACCTCGGCGTGACGGTCAAGACATCAGAACATCAGAAAAGCCTCCCGTAGGCCGAGCCACCTCCGCCGGCAAGCAAGGGAGCGTCTAGCAGAGGCAGGAGCATTTTAAAACAAAATGGAAGTAAAAACCATGGCCCTTAGGGCGTCTGGAGTCTGCATCCAGCTGCTCTGAGCTGAGGGGCGTCTGTGCTGCAGGAGGGATGCCCCAGGCCCAGGAAGACTGGAAAGCAACATTTTCCTTGAATTTCCTGGTTTGGTGTTTTGTTGATCTGTAAGTCGCTCGAGTCCAGTTGAATTTTAAACGCGGCTCTTTGTTTCCGATTTTTCCTTTTGCTCGTGGACAGGGATCCGTCCTGAGCGTGCCGGGACCTGAGGTATGTGCCTGCCCAGCTTCTAAGAGACGGGCCTGCGGGGACCTGGGTACAAGGCTGGGTGGGGTCCGGGCAGGCGCGAGGGTGCGTGATGACCCCAGCTGACGCCGTCCCTCTTTCCCCAGGGCCGGCCGGGTTTCGCAGGCTTTCCCGTGAGTAACCTGGTGCCAGAGCTGCATGCTGCCCGCCACTGCCCTCCCGGCTGGGGAGGGGTCTCCACCTGGTAGCACAGAGCAGCCCGGTCGAGCTGGGGTGGGCCTTGTCAGGCCCGAGGGATAGCGACAGTCACTGCCCCCAAGGAAATGATGGGAGTGGGATGTGGGCGAGAGCCGCTGGCAGGCCCTGTGCTGGGTGGGCACCCGTGAGGGTGAGGCAGCTCCTTGCACCTGCAGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGGGAGGTGTCCTGGTGGGGGTCACCTGCGGAGGCCTGCAGTGTCCAGAGTGAGGCTGGGGCCGCGAGGGGCCCTGGTCGGGCTGTCGAGGCAGGCATATTGCGGGGGGCAGCTGTCGGGGGAGATGGAGCAGCCGTCGGGGATGGGGGAGATGCCAGCCGCTCGGGCCTCACGGCCTGGCCTCCATTCCAGGGACCTGCAGGACCCAAGGGCAACCTGGGCTCTAAGGGCGAACGAGGCTCCCCGGGACCCAAGGTAAGGGGCTCAGGTGCTGTCCCTCAACCCCCTTTGTGACCCAGGGGTGGCTCCAGCCTGCCCAGATGACCACTGTTGGGAGGGACCTGGGACCCCCCGGCTGCTGCTGTGACACGTGAGGGGTACATCCCTGCTCGGGCCGTCCCTGTGGTCACCTCCCGTGAAAGGACCCAGCCTGCGAGGCCCAGTCACAGCGGCCCTGCCTTCGGGGCTCTGGGTGAGGCTTTGTGGGGAAGGAGCTGGCCCTGACTCTGCTGGACCTCCTGCCATTCCAGGGTGAGAAGGGTGAACCGGGCAGCATCTTCAGCCCCGACGGCGGTGCCCTGGGCCCTGCCCAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTCCTTCCGGCAGGCGTGGGGGCTCCTGGGGCTGTGGAGACAGCCTGGGGAGGGTCTTCCTGAGGGTCTGGCTCCTGATGCACGAGCCTCTCCCAAGCAGGGCTCTACCATCCAGGCCTGGCCCTGGTGGCCCCTCCTTTCTCGCACCCATGTCGGCGGTTCCGCCGGCCCCTCGTCCTCTCCCTGCCCCTCGTCCTCTCCCTACCCCTGAGCCCACCCTGCTGAGGGGAGGTTCTCAGTGGGCTGCAGCTCTGAGCTCGCGCCTCCCTGGGGCCTGGCCTGTGGGGTGCAGGAGCCCAGGCTGTACCAGCTCAGCCTCAGCAGGTTTCTGGCTGCCCCTCCAGCCTCTTCCTGGGGGCCCTGATGCTGTGGGCAGGGCCCGGAGTCAGTTCCTCAAGGGGCCTGTGCCTGCGTCCCCACCCCCAGCAGGCAGCCGCCCAGAAAAGCCCTCGGGGAGGGTCCTGGGGAGAAGCCTGGATCTTTGGAGTGTGGGCCACCGGCTCTCCCACTTTCAGAGGGAGCAGTGAGCCCTCCGGGGTGTTTGGGGTGGGCCTCAGACACAGGATCCCCAGGCCCAGTGAGAGCTCCACTATCCCACCCAGCTGTGCATTGGAGCTGGGGCCTGTGGCAACCAGGACACTGCGTGGCACATGCCCTCCACCCTCCACCCTCCACCCCTGCTTCAGGGTCCCGGGGCATGCATGCACGCACCAACCTGGACGCAAACCCCAAACCCGACCCTCCCCTCACCAGTGGCTCCTGTCCTCCCCAGGGCTGCCTGCGCCTTGGGGACGGCCCAGTGCACCCAAAGGGACCACAGCGGCCCTTAGGGAGGCTATCAGGTGGGGCACAAGCCGCCACCTAACCGTGCCTTCGCCACAGGGGCCCTCAGAGAGGCTGCCAGGTGGGGCACAAGCTGCCACCTAACCCTGTCTTCTTGTTTTTTTGCTCAGGGAGAGCCGGGCTTCCGAGGACCCCCGGTAAGTCGGTCCCTGGCTTTCTCTGCACTGAGCTCGGGCATGACGGCCCCCAAGGACACGGTCGCCCGCGGCTGCTGAGCTTGTGCTGTGCGGCCCAGGGCTCATCTCCCTAGTGCAGTTTTAAAGCGTGTGGGGCAGGTGTCGGCGTGAGGCTGCAGTGGGCTCCTCCGAGCTGATGGGTGGCCCAGGGTGCTGTGCTCTGCATG
|
benign
| 320,414 |
Is the variant located on chromosome 21 at position 45496602, gene COL18A1 (collagen type XVIII alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
GGCTTCCGAGGACCCCCGGTAAGTCGGTCCCTGGCTTTCTCTGCACTGAGCTCGGGCATGACGGCCCCCAAGGACACGGTCGCCCGCGGCTGCTGAGCTTGTGCTGTGCGGCCCAGGGCTCATCTCCCTAGTGCAGTTTTAAAGCGTGTGGGGCAGGTGTCGGCGTGAGGCTGCAGTGGGCTCCTCCGAGCTGATGGGTGGCCCAGGGTGCTGTGCTCTGCATGGCCCCTCCCCTTCCCCAGGACCCCCCAACTCGTGGTCAAGGGCCAGGGTCTGCCCCACTAAGCCTGGCCCCCTTCCTCTTGCAGGGTCCATACGGACGGCCGGGGTACAAGGGAGAGATTGGCTTTCCTGGACGGCCGGTGAGGACCTGGGGTCTCCAGTGGGGGCGGCAGATGGGGTCTGGCAGGTGGGGAGCAGCCCAGGCCCACGGGGGTGACATGCCCAGAGGGGAGTGGACGGCCGCCGCACCCACTGTCCTCCCCCAAGAACCGGCCCTGCCTGAGCGCAGCTCTTGTCCTGGATGTGGCTGGCAGTACCCCACGAGGGGCCAGTACCCAGGAGGAAGCCCTGGAGGCAGACAGGGCAGTGGGCCTGTGTGTGCTAGGCTCAGTCACCTCCTCCCAAAAGGGTCCTTGTGCAGGAAAGGGGTGAGAAGGGCCGGGGTAGCCTGAGAGCTGGGAACGTGTGAGGCTGAGCGTGGGCCGGCCGGGCCTGGCGTGGGGCTAACGGCAGGCACCCTGCGGGAAGGTGTCTGGTAATCATCAGTGCCCAGCAGTCCCCACCCCCTGTGCTCCGCCCCAGGGTCGCCCCGGGATGAACGGATTGAAAGGAGAGAAAGGGGAGCCGGGAGATGCCAGCCTTGGATTTGGCATGAGGGTGAGTGTCTCTCAAGGGGCGGACTGGGTGGCTGGGAGACCAGGACCTGGGAATGGCCTGGCCACAGCCTGGGGTCCTGCAGCTCCTCCCAGAGGCCACTTATAAGCAGCCCTGCCATGTGGCCACACAGCACTGGTCATGCCATACCCATGCACAGTCATACATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATTCCATGATGGGCATACACACTGCACATGTATACTCATGCACACATACATATACACATGCATACACACCAATACACATATATGCACACATGTGCACCCATATACACACATACAACAGGCCCCTGTGGATTCTCAGCAGGGCATCCATGGGCCTGGGCCATGCCCTCCATGCCCTCTATGCCCTCCATGCCCTCCATGCCCTCCAAGCCCTCCATGCTGGGGGTTCTCCCGCTCAGCCCAAAGGTGTCCACTCTGCTGTCTTTTGAGCCAAGAGCTTTGTCTCCCTGATGTCAGCAGGGTGGGGCATTTTCAGTCACCTTTTTACCTGAGACGCAGACCCGGTGGCCTCTTCACTCCTCCCGAGGGACGTCTGTGCACGACTCCAGCGTGGGATGAGGTGGGGCCGGGGCCAGTTCCTGTCCTCAGGGAGCCGTGGCCCGAGTGACCCACTGCATTCTCGGTTTTGCCTGGTCAGAGGTCTGCCTGGTCAGGTTTCTGATTTTTCTGATTTTTCTGAACTGTCTCTGCTCCCAGCTGCTGCCTGACAGGCAGGCCATAAGCCTAACAGCTCTCTGCCCTCCCCACAGGGAATGCCCGGCCCCCCAGGACCTCCAGGGCCCCCAGGCCCTCCAGGGACTCCTGTTTACGACAGCAATGTAAGTCCCCAGGGCACCCACTGTCCTACAGCCACCCTTGGCTGTCACACAGAGCCCCACAGAGGGGCTGGGCCTTCTTCTCCCCTGGCCTCTGCGTCTGGGGGTCCTTCTAGGATGTGCCAGTCTGGTGGGCAGTGGATTAGCAGCTGAGTTCCCACGGAAGGTGAAGGCCTGGGAAAGGGAGGGCTCTCTGGGTGTGGAGCTGCTTCCAGCTGGCTCTGCTAAGGGCCTGAGCCCAGGGTTGCTAGGGGCACCCCCATTTTCCCAGGCTCAGCAAGGTGAAGTGACCAATGAGGGCCAAGTGGCGTCAGGCCGTGGCTCCTGCTCTCCGTACCCCTGTTCCCTCCCGTCTCTGACTGGGGGAGGCTGCTATGTGGCCTCATACAGGGGCTGGTGCTTCTGGGCTTGGGGACCCCTGAGTGGTGGTGGCCTCCATTTCAGAACATCGCCCTCAGCAGCCGCCTCTCCCCGTTCCTTGCAGGTGTTTGCTGAGTCCAGCCGCCCCGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACAGCTGGGGACACAGGCTCTGAAGGGATGCTCCAGAGCCCCACCTTCCTTCCCGTGCCAGCAGCAGTGAGACTCCCCCAGTGGCCCAAGGCCAGTGCTACACGCCCAGCCCACGCCCCAGTTCCGATGACCTTGGCCCTTCCTGCGGGCCCTCCCAGCACAGCCGTCCAGGACCTGACCTTGGGGTGGCCCCCATTTGCTGTTCTCCGTTGAGATTTTGCTTCTCTGGCCAAAGCAGGGTGGAAGCAGCCCCGTCCCTCCTGTTGGTCAGCACGTGCCCTGCAGGTGTGGCCTGGCCCCCACATGGCCTGCTGACGGGGACCCAGGGCGCCCCTGCTCTCCAGCAGCTCCTACCCTGACTGTCCCCATGTCCATCTGATGCCCCCCCATCCAGGCCCCCAGGCACTAGGGCATTTCGGGCAGGAGGGGCACCACCCTGGAGTCCTCCCTGGCACATTCCTGATGGGCACTGGGTCTCTCTTCCTCCAGGGAATCAGGGCCCTCCAGGACCCAAGGGCGCCAAAGGAGAAGTGGGCCCCCCCGGACCACCAGGTGAGCAACTCTGGACATCCCAGGCAGGAGAGCCATGGCGTGGCCAGCACTGAAGTGTGGTCACACCTAGAGCCGCCACCACAAGCAGGTCCTGGACCCTCACTGGGTGGTGACCACCTCACCCTGCGGGAGGAAGGAAGCCCCTTCTGGGTTGATGGGGGCCTCATAGGACCTGGATTTGGGGGCGAGGGTGGCTGCAGGGCACAAGCCCAGCAAGATAGCCCCATCACCTCCTGAGGAGCAGATGGCTGCCCTTCCATGCTAGACCCAGGTGGGCACTGCGCAGAGACACAGCAGCTTCAGTGTCCTGAGATGCCCCCTCCCCTCCACGGGGCCGGGGGTCGGCACTGGAGGACCCTCTGTCGAGAAACTCTCCAGGGTTTCATGTGGGAAGGAGGCGTTGCCCGACAGGCCGTCTGGAGGGTGAGCCCAGCACCCCTGCTCCCCCAAAGGACAAGAATTCCCCCCTGAGCCCCACCTCCATTGAGGGTGGCAGGGCTGCTTGGATGTCCTGCCAAGACCACTGAGAACAGCTGGATAAAATGTGAGAAAACCACTGTTTGAGGATGTCTGGGGGCTGGCAGAGCAGAAGCCCAGAGAGCCAGGCTAGCCTCGGGCGCCTTTCACCACCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCACCGCCAGGGTTCCCTCTCGCCACCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCGCTCGCCGCCAGGGTCCCCTCTCGCTGCCAGGGTCCTCTGCAGAGGAGGCCGCCATACCTGCTCTTGCTGGGGCTGCACTCTGGGGTGGGAAGGGACCAGGCAGGCAGAGGCCGAGTCTGGGCCGGGACATCCTTAAGGCCTGTGGAGGCAAAGGCAGGCAGAAAGCAAGCGGGAAG
|
GGCTTCCGAGGACCCCCGGTAAGTCGGTCCCTGGCTTTCTCTGCACTGAGCTCGGGCATGACGGCCCCCAAGGACACGGTCGCCCGCGGCTGCTGAGCTTGTGCTGTGCGGCCCAGGGCTCATCTCCCTAGTGCAGTTTTAAAGCGTGTGGGGCAGGTGTCGGCGTGAGGCTGCAGTGGGCTCCTCCGAGCTGATGGGTGGCCCAGGGTGCTGTGCTCTGCATGGCCCCTCCCCTTCCCCAGGACCCCCCAACTCGTGGTCAAGGGCCAGGGTCTGCCCCACTAAGCCTGGCCCCCTTCCTCTTGCAGGGTCCATACGGACGGCCGGGGTACAAGGGAGAGATTGGCTTTCCTGGACGGCCGGTGAGGACCTGGGGTCTCCAGTGGGGGCGGCAGATGGGGTCTGGCAGGTGGGGAGCAGCCCAGGCCCACGGGGGTGACATGCCCAGAGGGGAGTGGACGGCCGCCGCACCCACTGTCCTCCCCCAAGAACCGGCCCTGCCTGAGCGCAGCTCTTGTCCTGGATGTGGCTGGCAGTACCCCACGAGGGGCCAGTACCCAGGAGGAAGCCCTGGAGGCAGACAGGGCAGTGGGCCTGTGTGTGCTAGGCTCAGTCACCTCCTCCCAAAAGGGTCCTTGTGCAGGAAAGGGGTGAGAAGGGCCGGGGTAGCCTGAGAGCTGGGAACGTGTGAGGCTGAGCGTGGGCCGGCCGGGCCTGGCGTGGGGCTAACGGCAGGCACCCTGCGGGAAGGTGTCTGGTAATCATCAGTGCCCAGCAGTCCCCACCCCCTGTGCTCCGCCCCAGGGTCGCCCCGGGATGAACGGATTGAAAGGAGAGAAAGGGGAGCCGGGAGATGCCAGCCTTGGATTTGGCATGAGGGTGAGTGTCTCTCAAGGGGCGGACTGGGTGGCTGGGAGACCAGGACCTGGGAATGGCCTGGCCACAGCCTGGGGTCCTGCAGCTCCTCCCAGAGGCCACTTATAAGCAGCCCTGCCATGTGGCCACACAGCACTGGTCATGCCATACCCATGCACAGTCATACATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATTCCATGATGGGCATACACACTGCACATGTATACTCATGCACACATACATATACACATGCATACACACCAATACACATATATGCACACATGTGCACCCATATACACACATACAACAGGCCCCTGTGGATTCTCAGCAGGGCATCCATGGGCCTGGGCCATGCCCTCCATGCCCTCTATGCCCTCCATGCCCTCCATGCCCTCCAAGCCCTCCATGCTGGGGGTTCTCCCGCTCAGCCCAAAGGTGTCCACTCTGCTGTCTTTTGAGCCAAGAGCTTTGTCTCCCTGATGTCAGCAGGGTGGGGCATTTTCAGTCACCTTTTTACCTGAGACGCAGACCCGGTGGCCTCTTCACTCCTCCCGAGGGACGTCTGTGCACGACTCCAGCGTGGGATGAGGTGGGGCCGGGGCCAGTTCCTGTCCTCAGGGAGCCGTGGCCCGAGTGACCCACTGCATTCTCGGTTTTGCCTGGTCAGAGGTCTGCCTGGTCAGGTTTCTGATTTTTCTGATTTTTCTGAACTGTCTCTGCTCCCAGCTGCTGCCTGACAGGCAGGCCATAAGCCTAACAGCTCTCTGCCCTCCCCACAGGGAATGCCCGGCCCCCCAGGACCTCCAGGGCCCCCAGGCCCTCCAGGGACTCCTGTTTACGACAGCAATGTAAGTCCCCAGGGCACCCACTGTCCTACAGCCACCTTGGCTGTCACACAGAGCCCCACAGAGGGGCTGGGCCTTCTTCTCCCCTGGCCTCTGCGTCTGGGGGTCCTTCTAGGATGTGCCAGTCTGGTGGGCAGTGGATTAGCAGCTGAGTTCCCACGGAAGGTGAAGGCCTGGGAAAGGGAGGGCTCTCTGGGTGTGGAGCTGCTTCCAGCTGGCTCTGCTAAGGGCCTGAGCCCAGGGTTGCTAGGGGCACCCCCATTTTCCCAGGCTCAGCAAGGTGAAGTGACCAATGAGGGCCAAGTGGCGTCAGGCCGTGGCTCCTGCTCTCCGTACCCCTGTTCCCTCCCGTCTCTGACTGGGGGAGGCTGCTATGTGGCCTCATACAGGGGCTGGTGCTTCTGGGCTTGGGGACCCCTGAGTGGTGGTGGCCTCCATTTCAGAACATCGCCCTCAGCAGCCGCCTCTCCCCGTTCCTTGCAGGTGTTTGCTGAGTCCAGCCGCCCCGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACAGCTGGGGACACAGGCTCTGAAGGGATGCTCCAGAGCCCCACCTTCCTTCCCGTGCCAGCAGCAGTGAGACTCCCCCAGTGGCCCAAGGCCAGTGCTACACGCCCAGCCCACGCCCCAGTTCCGATGACCTTGGCCCTTCCTGCGGGCCCTCCCAGCACAGCCGTCCAGGACCTGACCTTGGGGTGGCCCCCATTTGCTGTTCTCCGTTGAGATTTTGCTTCTCTGGCCAAAGCAGGGTGGAAGCAGCCCCGTCCCTCCTGTTGGTCAGCACGTGCCCTGCAGGTGTGGCCTGGCCCCCACATGGCCTGCTGACGGGGACCCAGGGCGCCCCTGCTCTCCAGCAGCTCCTACCCTGACTGTCCCCATGTCCATCTGATGCCCCCCCATCCAGGCCCCCAGGCACTAGGGCATTTCGGGCAGGAGGGGCACCACCCTGGAGTCCTCCCTGGCACATTCCTGATGGGCACTGGGTCTCTCTTCCTCCAGGGAATCAGGGCCCTCCAGGACCCAAGGGCGCCAAAGGAGAAGTGGGCCCCCCCGGACCACCAGGTGAGCAACTCTGGACATCCCAGGCAGGAGAGCCATGGCGTGGCCAGCACTGAAGTGTGGTCACACCTAGAGCCGCCACCACAAGCAGGTCCTGGACCCTCACTGGGTGGTGACCACCTCACCCTGCGGGAGGAAGGAAGCCCCTTCTGGGTTGATGGGGGCCTCATAGGACCTGGATTTGGGGGCGAGGGTGGCTGCAGGGCACAAGCCCAGCAAGATAGCCCCATCACCTCCTGAGGAGCAGATGGCTGCCCTTCCATGCTAGACCCAGGTGGGCACTGCGCAGAGACACAGCAGCTTCAGTGTCCTGAGATGCCCCCTCCCCTCCACGGGGCCGGGGGTCGGCACTGGAGGACCCTCTGTCGAGAAACTCTCCAGGGTTTCATGTGGGAAGGAGGCGTTGCCCGACAGGCCGTCTGGAGGGTGAGCCCAGCACCCCTGCTCCCCCAAAGGACAAGAATTCCCCCCTGAGCCCCACCTCCATTGAGGGTGGCAGGGCTGCTTGGATGTCCTGCCAAGACCACTGAGAACAGCTGGATAAAATGTGAGAAAACCACTGTTTGAGGATGTCTGGGGGCTGGCAGAGCAGAAGCCCAGAGAGCCAGGCTAGCCTCGGGCGCCTTTCACCACCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCACCGCCAGGGTTCCCTCTCGCCACCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCGCTCGCCGCCAGGGTCCCCTCTCGCTGCCAGGGTCCTCTGCAGAGGAGGCCGCCATACCTGCTCTTGCTGGGGCTGCACTCTGGGGTGGGAAGGGACCAGGCAGGCAGAGGCCGAGTCTGGGCCGGGACATCCTTAAGGCCTGTGGAGGCAAAGGCAGGCAGAAAGCAAGCGGGAAGN
|
benign
| 320,438 |
Chromosome 21, position 45497644, gene COL18A1 (collagen type XVIII alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Knobloch_syndrome', 'Knobloch_syndrome_1']
|
ATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATTCCATGATGGGCATACACACTGCACATGTATACTCATGCACACATACATATACACATGCATACACACCAATACACATATATGCACACATGTGCACCCATATACACACATACAACAGGCCCCTGTGGATTCTCAGCAGGGCATCCATGGGCCTGGGCCATGCCCTCCATGCCCTCTATGCCCTCCATGCCCTCCATGCCCTCCAAGCCCTCCATGCTGGGGGTTCTCCCGCTCAGCCCAAAGGTGTCCACTCTGCTGTCTTTTGAGCCAAGAGCTTTGTCTCCCTGATGTCAGCAGGGTGGGGCATTTTCAGTCACCTTTTTACCTGAGACGCAGACCCGGTGGCCTCTTCACTCCTCCCGAGGGACGTCTGTGCACGACTCCAGCGTGGGATGAGGTGGGGCCGGGGCCAGTTCCTGTCCTCAGGGAGCCGTGGCCCGAGTGACCCACTGCATTCTCGGTTTTGCCTGGTCAGAGGTCTGCCTGGTCAGGTTTCTGATTTTTCTGATTTTTCTGAACTGTCTCTGCTCCCAGCTGCTGCCTGACAGGCAGGCCATAAGCCTAACAGCTCTCTGCCCTCCCCACAGGGAATGCCCGGCCCCCCAGGACCTCCAGGGCCCCCAGGCCCTCCAGGGACTCCTGTTTACGACAGCAATGTAAGTCCCCAGGGCACCCACTGTCCTACAGCCACCCTTGGCTGTCACACAGAGCCCCACAGAGGGGCTGGGCCTTCTTCTCCCCTGGCCTCTGCGTCTGGGGGTCCTTCTAGGATGTGCCAGTCTGGTGGGCAGTGGATTAGCAGCTGAGTTCCCACGGAAGGTGAAGGCCTGGGAAAGGGAGGGCTCTCTGGGTGTGGAGCTGCTTCCAGCTGGCTCTGCTAAGGGCCTGAGCCCAGGGTTGCTAGGGGCACCCCCATTTTCCCAGGCTCAGCAAGGTGAAGTGACCAATGAGGGCCAAGTGGCGTCAGGCCGTGGCTCCTGCTCTCCGTACCCCTGTTCCCTCCCGTCTCTGACTGGGGGAGGCTGCTATGTGGCCTCATACAGGGGCTGGTGCTTCTGGGCTTGGGGACCCCTGAGTGGTGGTGGCCTCCATTTCAGAACATCGCCCTCAGCAGCCGCCTCTCCCCGTTCCTTGCAGGTGTTTGCTGAGTCCAGCCGCCCCGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACAGCTGGGGACACAGGCTCTGAAGGGATGCTCCAGAGCCCCACCTTCCTTCCCGTGCCAGCAGCAGTGAGACTCCCCCAGTGGCCCAAGGCCAGTGCTACACGCCCAGCCCACGCCCCAGTTCCGATGACCTTGGCCCTTCCTGCGGGCCCTCCCAGCACAGCCGTCCAGGACCTGACCTTGGGGTGGCCCCCATTTGCTGTTCTCCGTTGAGATTTTGCTTCTCTGGCCAAAGCAGGGTGGAAGCAGCCCCGTCCCTCCTGTTGGTCAGCACGTGCCCTGCAGGTGTGGCCTGGCCCCCACATGGCCTGCTGACGGGGACCCAGGGCGCCCCTGCTCTCCAGCAGCTCCTACCCTGACTGTCCCCATGTCCATCTGATGCCCCCCCATCCAGGCCCCCAGGCACTAGGGCATTTCGGGCAGGAGGGGCACCACCCTGGAGTCCTCCCTGGCACATTCCTGATGGGCACTGGGTCTCTCTTCCTCCAGGGAATCAGGGCCCTCCAGGACCCAAGGGCGCCAAAGGAGAAGTGGGCCCCCCCGGACCACCAGGTGAGCAACTCTGGACATCCCAGGCAGGAGAGCCATGGCGTGGCCAGCACTGAAGTGTGGTCACACCTAGAGCCGCCACCACAAGCAGGTCCTGGACCCTCACTGGGTGGTGACCACCTCACCCTGCGGGAGGAAGGAAGCCCCTTCTGGGTTGATGGGGGCCTCATAGGACCTGGATTTGGGGGCGAGGGTGGCTGCAGGGCACAAGCCCAGCAAGATAGCCCCATCACCTCCTGAGGAGCAGATGGCTGCCCTTCCATGCTAGACCCAGGTGGGCACTGCGCAGAGACACAGCAGCTTCAGTGTCCTGAGATGCCCCCTCCCCTCCACGGGGCCGGGGGTCGGCACTGGAGGACCCTCTGTCGAGAAACTCTCCAGGGTTTCATGTGGGAAGGAGGCGTTGCCCGACAGGCCGTCTGGAGGGTGAGCCCAGCACCCCTGCTCCCCCAAAGGACAAGAATTCCCCCCTGAGCCCCACCTCCATTGAGGGTGGCAGGGCTGCTTGGATGTCCTGCCAAGACCACTGAGAACAGCTGGATAAAATGTGAGAAAACCACTGTTTGAGGATGTCTGGGGGCTGGCAGAGCAGAAGCCCAGAGAGCCAGGCTAGCCTCGGGCGCCTTTCACCACCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCACCGCCAGGGTTCCCTCTCGCCACCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCGCTCGCCGCCAGGGTCCCCTCTCGCTGCCAGGGTCCTCTGCAGAGGAGGCCGCCATACCTGCTCTTGCTGGGGCTGCACTCTGGGGTGGGAAGGGACCAGGCAGGCAGAGGCCGAGTCTGGGCCGGGACATCCTTAAGGCCTGTGGAGGCAAAGGCAGGCAGAAAGCAAGCGGGAAGATGGAAGATGTGCCCATGCCAGCCTTGGATCTCTCAGCGTCACACACGACGCCCAGGAAGGAGTGAATGATGCACAGATGACCAGAAACCAGGAGAAGAGGCCAGTGACACACCAGACCAGGAGGCCCAGCTCATGGGGTCATCGGACCCACCTTGAACTCTGAAGGTCACACATTCAAAAGCCACAGGAAGTCTGGAGATGGCAGCAGAGAGCTGGGAAGCTCAGAGGTGTCAGGATGAACCTGGGGCTGAAGGCGGAACAGTTGGAGATTGAGACCTGTGTATAGGTTTTGGTCGACGTGGGATTGCTTGTCCCTGGGAGCCAGAACGAGGGCTCCGAGGGCTCTAGAGGGAACAGTGTTTGCAGGCGGAATGGCTGATGCTCTTCCAAAGCCAAGGAAGGCTCAGAGCATTCCCCTCATTCGAAGGATCAACAATTAGAGTGACGAGATTTCTCAACAAAACGGGAGAAGCCAGAAGACCATAAATGGTTTCCAAAATATCCAAGAAAGTCAATTGCCAGTGTAGACTCCGACAGCCAGTGGTACTCCCGTGGCCTTCAGAACGAGGATGACATGCAGGCCAGCCACTCCAGACCCGAGCTGTGTCGGCAGTGGAGGGTATTTCAGGGGGAAGACAAGGCCAAGGGAAAGGAGTGCAGAGATGGGGAGAGACAACGCTGGCAGGAACCGGCGTCCCAGCGACAGGGAGGTCAGAGGCTCCCTCGGGAACCAGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGCGGGAACCCGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGCAGGAACCGGCACAGGCTGCACAGCATGGTGTCCCATCGTCAGTGCAATTAGAGGTTCCCGTGGTCTCAGCGC
|
ATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATTCCATGATGGGCATACACACTGCACATGTATACTCATGCACACATACATATACACATGCATACACACCAATACACATATATGCACACATGTGCACCCATATACACACATACAACAGGCCCCTGTGGATTCTCAGCAGGGCATCCATGGGCCTGGGCCATGCCCTCCATGCCCTCTATGCCCTCCATGCCCTCCATGCCCTCCAAGCCCTCCATGCTGGGGGTTCTCCCGCTCAGCCCAAAGGTGTCCACTCTGCTGTCTTTTGAGCCAAGAGCTTTGTCTCCCTGATGTCAGCAGGGTGGGGCATTTTCAGTCACCTTTTTACCTGAGACGCAGACCCGGTGGCCTCTTCACTCCTCCCGAGGGACGTCTGTGCACGACTCCAGCGTGGGATGAGGTGGGGCCGGGGCCAGTTCCTGTCCTCAGGGAGCCGTGGCCCGAGTGACCCACTGCATTCTCGGTTTTGCCTGGTCAGAGGTCTGCCTGGTCAGGTTTCTGATTTTTCTGATTTTTCTGAACTGTCTCTGCTCCCAGCTGCTGCCTGACAGGCAGGCCATAAGCCTAACAGCTCTCTGCCCTCCCCACAGGGAATGCCCGGCCCCCCAGGACCTCCAGGGCCCCCAGGCCCTCCAGGGACTCCTGTTTACGACAGCAATGTAAGTCCCCAGGGCACCCACTGTCCTACAGCCACCCTTGGCTGTCACACAGAGCCCCACAGAGGGGCTGGGCCTTCTTCTCCCCTGGCCTCTGCGTCTGGGGGTCCTTCTAGGATGTGCCAGTCTGGTGGGCAGTGGATTAGCAGCTGAGTTCCCACGGAAGGTGAAGGCCTGGGAAAGGGAGGGCTCTCTGGGTGTGGAGCTGCTTCCAGCTGGCTCTGCTAAGGGCCTGAGCCCAGGGTTGCTAGGGGCACCCCCATTTTCCCAGGCTCAGCAAGGTGAAGTGACCAATGAGGGCCAAGTGGCGTCAGGCCGTGGCTCCTGCTCTCCGTACCCCTGTTCCCTCCCGTCTCTGACTGGGGGAGGCTGCTATGTGGCCTCATACAGGGGCTGGTGCTTCTGGGCTTGGGGACCCCTGAGTGGTGGTGGCCTCCATTTCAGAACATCGCCCTCAGCAGCCGCCTCTCCCCGTTCCTTGCAGGTGTTTGCTGAGTCCAGCCGCCCCGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACAGCTGGGGACACAGGCTCTGAAGGGATGCTCCAGAGCCCCACCTTCCTTCCCGTGCCAGCAGCAGTGAGACTCCCCCAGTGGCCCAAGGCCAGTGCTACACGCCCAGCCCACGCCCCAGTTCCGATGACCTTGGCCCTTCCTGCGGGCCCTCCCAGCACAGCCGTCCAGGACCTGACCTTGGGGTGGCCCCCATTTGCTGTTCTCCGTTGAGATTTTGCTTCTCTGGCCAAAGCAGGGTGGAAGCAGCCCCGTCCCTCCTGTTGGTCAGCACGTGCCCTGCAGGTGTGGCCTGGCCCCCACATGGCCTGCTGACGGGGACCCAGGGCGCCCCTGCTCTCCAGCAGCTCCTACCCTGACTGTCCCCATGTCCATCTGATGCCCCCCCATCCAGGCCCCCAGGCACTAGGGCATTTCGGGCAGGAGGGGCACCACCCTGGAGTCCTCCCTGGCACATTCCTGATGGGCACTGGGTCTCTCTTCCTCCAGGGAATCAGGGCCCTCCAGGACCCAAGGGCGCCAAAGGAGAAGTGGGCCCCCCCCGGACCACCAGGTGAGCAACTCTGGACATCCCAGGCAGGAGAGCCATGGCGTGGCCAGCACTGAAGTGTGGTCACACCTAGAGCCGCCACCACAAGCAGGTCCTGGACCCTCACTGGGTGGTGACCACCTCACCCTGCGGGAGGAAGGAAGCCCCTTCTGGGTTGATGGGGGCCTCATAGGACCTGGATTTGGGGGCGAGGGTGGCTGCAGGGCACAAGCCCAGCAAGATAGCCCCATCACCTCCTGAGGAGCAGATGGCTGCCCTTCCATGCTAGACCCAGGTGGGCACTGCGCAGAGACACAGCAGCTTCAGTGTCCTGAGATGCCCCCTCCCCTCCACGGGGCCGGGGGTCGGCACTGGAGGACCCTCTGTCGAGAAACTCTCCAGGGTTTCATGTGGGAAGGAGGCGTTGCCCGACAGGCCGTCTGGAGGGTGAGCCCAGCACCCCTGCTCCCCCAAAGGACAAGAATTCCCCCCTGAGCCCCACCTCCATTGAGGGTGGCAGGGCTGCTTGGATGTCCTGCCAAGACCACTGAGAACAGCTGGATAAAATGTGAGAAAACCACTGTTTGAGGATGTCTGGGGGCTGGCAGAGCAGAAGCCCAGAGAGCCAGGCTAGCCTCGGGCGCCTTTCACCACCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCACCGCCAGGGTTCCCTCTCGCCACCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCGCTCGCCGCCAGGGTCCCCTCTCGCTGCCAGGGTCCTCTGCAGAGGAGGCCGCCATACCTGCTCTTGCTGGGGCTGCACTCTGGGGTGGGAAGGGACCAGGCAGGCAGAGGCCGAGTCTGGGCCGGGACATCCTTAAGGCCTGTGGAGGCAAAGGCAGGCAGAAAGCAAGCGGGAAGATGGAAGATGTGCCCATGCCAGCCTTGGATCTCTCAGCGTCACACACGACGCCCAGGAAGGAGTGAATGATGCACAGATGACCAGAAACCAGGAGAAGAGGCCAGTGACACACCAGACCAGGAGGCCCAGCTCATGGGGTCATCGGACCCACCTTGAACTCTGAAGGTCACACATTCAAAAGCCACAGGAAGTCTGGAGATGGCAGCAGAGAGCTGGGAAGCTCAGAGGTGTCAGGATGAACCTGGGGCTGAAGGCGGAACAGTTGGAGATTGAGACCTGTGTATAGGTTTTGGTCGACGTGGGATTGCTTGTCCCTGGGAGCCAGAACGAGGGCTCCGAGGGCTCTAGAGGGAACAGTGTTTGCAGGCGGAATGGCTGATGCTCTTCCAAAGCCAAGGAAGGCTCAGAGCATTCCCCTCATTCGAAGGATCAACAATTAGAGTGACGAGATTTCTCAACAAAACGGGAGAAGCCAGAAGACCATAAATGGTTTCCAAAATATCCAAGAAAGTCAATTGCCAGTGTAGACTCCGACAGCCAGTGGTACTCCCGTGGCCTTCAGAACGAGGATGACATGCAGGCCAGCCACTCCAGACCCGAGCTGTGTCGGCAGTGGAGGGTATTTCAGGGGGAAGACAAGGCCAAGGGAAAGGAGTGCAGAGATGGGGAGAGACAACGCTGGCAGGAACCGGCGTCCCAGCGACAGGGAGGTCAGAGGCTCCCTCGGGAACCAGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGCGGGAACCCGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGCAGGAACCGGCACAGGCTGCACAGCATGGTGTCCCATCGTCAGTGCAATTAGAGGTTCCCGTGGTCTCAGCG
|
pathogenic
| 320,440 |
Variant in COL18A1 (collagen type XVIII alpha 1 chain), chromosome 21, position 45497644—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Knobloch_syndrome']
|
ATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATTCCATGATGGGCATACACACTGCACATGTATACTCATGCACACATACATATACACATGCATACACACCAATACACATATATGCACACATGTGCACCCATATACACACATACAACAGGCCCCTGTGGATTCTCAGCAGGGCATCCATGGGCCTGGGCCATGCCCTCCATGCCCTCTATGCCCTCCATGCCCTCCATGCCCTCCAAGCCCTCCATGCTGGGGGTTCTCCCGCTCAGCCCAAAGGTGTCCACTCTGCTGTCTTTTGAGCCAAGAGCTTTGTCTCCCTGATGTCAGCAGGGTGGGGCATTTTCAGTCACCTTTTTACCTGAGACGCAGACCCGGTGGCCTCTTCACTCCTCCCGAGGGACGTCTGTGCACGACTCCAGCGTGGGATGAGGTGGGGCCGGGGCCAGTTCCTGTCCTCAGGGAGCCGTGGCCCGAGTGACCCACTGCATTCTCGGTTTTGCCTGGTCAGAGGTCTGCCTGGTCAGGTTTCTGATTTTTCTGATTTTTCTGAACTGTCTCTGCTCCCAGCTGCTGCCTGACAGGCAGGCCATAAGCCTAACAGCTCTCTGCCCTCCCCACAGGGAATGCCCGGCCCCCCAGGACCTCCAGGGCCCCCAGGCCCTCCAGGGACTCCTGTTTACGACAGCAATGTAAGTCCCCAGGGCACCCACTGTCCTACAGCCACCCTTGGCTGTCACACAGAGCCCCACAGAGGGGCTGGGCCTTCTTCTCCCCTGGCCTCTGCGTCTGGGGGTCCTTCTAGGATGTGCCAGTCTGGTGGGCAGTGGATTAGCAGCTGAGTTCCCACGGAAGGTGAAGGCCTGGGAAAGGGAGGGCTCTCTGGGTGTGGAGCTGCTTCCAGCTGGCTCTGCTAAGGGCCTGAGCCCAGGGTTGCTAGGGGCACCCCCATTTTCCCAGGCTCAGCAAGGTGAAGTGACCAATGAGGGCCAAGTGGCGTCAGGCCGTGGCTCCTGCTCTCCGTACCCCTGTTCCCTCCCGTCTCTGACTGGGGGAGGCTGCTATGTGGCCTCATACAGGGGCTGGTGCTTCTGGGCTTGGGGACCCCTGAGTGGTGGTGGCCTCCATTTCAGAACATCGCCCTCAGCAGCCGCCTCTCCCCGTTCCTTGCAGGTGTTTGCTGAGTCCAGCCGCCCCGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACAGCTGGGGACACAGGCTCTGAAGGGATGCTCCAGAGCCCCACCTTCCTTCCCGTGCCAGCAGCAGTGAGACTCCCCCAGTGGCCCAAGGCCAGTGCTACACGCCCAGCCCACGCCCCAGTTCCGATGACCTTGGCCCTTCCTGCGGGCCCTCCCAGCACAGCCGTCCAGGACCTGACCTTGGGGTGGCCCCCATTTGCTGTTCTCCGTTGAGATTTTGCTTCTCTGGCCAAAGCAGGGTGGAAGCAGCCCCGTCCCTCCTGTTGGTCAGCACGTGCCCTGCAGGTGTGGCCTGGCCCCCACATGGCCTGCTGACGGGGACCCAGGGCGCCCCTGCTCTCCAGCAGCTCCTACCCTGACTGTCCCCATGTCCATCTGATGCCCCCCCATCCAGGCCCCCAGGCACTAGGGCATTTCGGGCAGGAGGGGCACCACCCTGGAGTCCTCCCTGGCACATTCCTGATGGGCACTGGGTCTCTCTTCCTCCAGGGAATCAGGGCCCTCCAGGACCCAAGGGCGCCAAAGGAGAAGTGGGCCCCCCCGGACCACCAGGTGAGCAACTCTGGACATCCCAGGCAGGAGAGCCATGGCGTGGCCAGCACTGAAGTGTGGTCACACCTAGAGCCGCCACCACAAGCAGGTCCTGGACCCTCACTGGGTGGTGACCACCTCACCCTGCGGGAGGAAGGAAGCCCCTTCTGGGTTGATGGGGGCCTCATAGGACCTGGATTTGGGGGCGAGGGTGGCTGCAGGGCACAAGCCCAGCAAGATAGCCCCATCACCTCCTGAGGAGCAGATGGCTGCCCTTCCATGCTAGACCCAGGTGGGCACTGCGCAGAGACACAGCAGCTTCAGTGTCCTGAGATGCCCCCTCCCCTCCACGGGGCCGGGGGTCGGCACTGGAGGACCCTCTGTCGAGAAACTCTCCAGGGTTTCATGTGGGAAGGAGGCGTTGCCCGACAGGCCGTCTGGAGGGTGAGCCCAGCACCCCTGCTCCCCCAAAGGACAAGAATTCCCCCCTGAGCCCCACCTCCATTGAGGGTGGCAGGGCTGCTTGGATGTCCTGCCAAGACCACTGAGAACAGCTGGATAAAATGTGAGAAAACCACTGTTTGAGGATGTCTGGGGGCTGGCAGAGCAGAAGCCCAGAGAGCCAGGCTAGCCTCGGGCGCCTTTCACCACCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCACCGCCAGGGTTCCCTCTCGCCACCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCGCTCGCCGCCAGGGTCCCCTCTCGCTGCCAGGGTCCTCTGCAGAGGAGGCCGCCATACCTGCTCTTGCTGGGGCTGCACTCTGGGGTGGGAAGGGACCAGGCAGGCAGAGGCCGAGTCTGGGCCGGGACATCCTTAAGGCCTGTGGAGGCAAAGGCAGGCAGAAAGCAAGCGGGAAGATGGAAGATGTGCCCATGCCAGCCTTGGATCTCTCAGCGTCACACACGACGCCCAGGAAGGAGTGAATGATGCACAGATGACCAGAAACCAGGAGAAGAGGCCAGTGACACACCAGACCAGGAGGCCCAGCTCATGGGGTCATCGGACCCACCTTGAACTCTGAAGGTCACACATTCAAAAGCCACAGGAAGTCTGGAGATGGCAGCAGAGAGCTGGGAAGCTCAGAGGTGTCAGGATGAACCTGGGGCTGAAGGCGGAACAGTTGGAGATTGAGACCTGTGTATAGGTTTTGGTCGACGTGGGATTGCTTGTCCCTGGGAGCCAGAACGAGGGCTCCGAGGGCTCTAGAGGGAACAGTGTTTGCAGGCGGAATGGCTGATGCTCTTCCAAAGCCAAGGAAGGCTCAGAGCATTCCCCTCATTCGAAGGATCAACAATTAGAGTGACGAGATTTCTCAACAAAACGGGAGAAGCCAGAAGACCATAAATGGTTTCCAAAATATCCAAGAAAGTCAATTGCCAGTGTAGACTCCGACAGCCAGTGGTACTCCCGTGGCCTTCAGAACGAGGATGACATGCAGGCCAGCCACTCCAGACCCGAGCTGTGTCGGCAGTGGAGGGTATTTCAGGGGGAAGACAAGGCCAAGGGAAAGGAGTGCAGAGATGGGGAGAGACAACGCTGGCAGGAACCGGCGTCCCAGCGACAGGGAGGTCAGAGGCTCCCTCGGGAACCAGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGCGGGAACCCGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGCAGGAACCGGCACAGGCTGCACAGCATGGTGTCCCATCGTCAGTGCAATTAGAGGTTCCCGTGGTCTCAGCGC
|
ATGTCCACACACGCACACGTGTGCCCAAACATGCATGCACATATATGGCCGTACTCATACATGTGTGCACATATACACATGCATCTATGCACATACATGCCCATACACACGCGCACACATACACGCACACACACATCCACACGTGCTCATGTGTGTACACATGCCCATACACTCCACATAGGTGCACATATACACATGTATTCATGCATATACGAGCCTGTCCACGTGCACACCCATACAGGTATATACATACACTCATACATGTGCACGTATCCACATGTGTATCCACATACATGACTATGAGCCCTCCCTGGCCCATTCCATGATGGGCATACACACTGCACATGTATACTCATGCACACATACATATACACATGCATACACACCAATACACATATATGCACACATGTGCACCCATATACACACATACAACAGGCCCCTGTGGATTCTCAGCAGGGCATCCATGGGCCTGGGCCATGCCCTCCATGCCCTCTATGCCCTCCATGCCCTCCATGCCCTCCAAGCCCTCCATGCTGGGGGTTCTCCCGCTCAGCCCAAAGGTGTCCACTCTGCTGTCTTTTGAGCCAAGAGCTTTGTCTCCCTGATGTCAGCAGGGTGGGGCATTTTCAGTCACCTTTTTACCTGAGACGCAGACCCGGTGGCCTCTTCACTCCTCCCGAGGGACGTCTGTGCACGACTCCAGCGTGGGATGAGGTGGGGCCGGGGCCAGTTCCTGTCCTCAGGGAGCCGTGGCCCGAGTGACCCACTGCATTCTCGGTTTTGCCTGGTCAGAGGTCTGCCTGGTCAGGTTTCTGATTTTTCTGATTTTTCTGAACTGTCTCTGCTCCCAGCTGCTGCCTGACAGGCAGGCCATAAGCCTAACAGCTCTCTGCCCTCCCCACAGGGAATGCCCGGCCCCCCAGGACCTCCAGGGCCCCCAGGCCCTCCAGGGACTCCTGTTTACGACAGCAATGTAAGTCCCCAGGGCACCCACTGTCCTACAGCCACCCTTGGCTGTCACACAGAGCCCCACAGAGGGGCTGGGCCTTCTTCTCCCCTGGCCTCTGCGTCTGGGGGTCCTTCTAGGATGTGCCAGTCTGGTGGGCAGTGGATTAGCAGCTGAGTTCCCACGGAAGGTGAAGGCCTGGGAAAGGGAGGGCTCTCTGGGTGTGGAGCTGCTTCCAGCTGGCTCTGCTAAGGGCCTGAGCCCAGGGTTGCTAGGGGCACCCCCATTTTCCCAGGCTCAGCAAGGTGAAGTGACCAATGAGGGCCAAGTGGCGTCAGGCCGTGGCTCCTGCTCTCCGTACCCCTGTTCCCTCCCGTCTCTGACTGGGGGAGGCTGCTATGTGGCCTCATACAGGGGCTGGTGCTTCTGGGCTTGGGGACCCCTGAGTGGTGGTGGCCTCCATTTCAGAACATCGCCCTCAGCAGCCGCCTCTCCCCGTTCCTTGCAGGTGTTTGCTGAGTCCAGCCGCCCCGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACAGCTGGGGACACAGGCTCTGAAGGGATGCTCCAGAGCCCCACCTTCCTTCCCGTGCCAGCAGCAGTGAGACTCCCCCAGTGGCCCAAGGCCAGTGCTACACGCCCAGCCCACGCCCCAGTTCCGATGACCTTGGCCCTTCCTGCGGGCCCTCCCAGCACAGCCGTCCAGGACCTGACCTTGGGGTGGCCCCCATTTGCTGTTCTCCGTTGAGATTTTGCTTCTCTGGCCAAAGCAGGGTGGAAGCAGCCCCGTCCCTCCTGTTGGTCAGCACGTGCCCTGCAGGTGTGGCCTGGCCCCCACATGGCCTGCTGACGGGGACCCAGGGCGCCCCTGCTCTCCAGCAGCTCCTACCCTGACTGTCCCCATGTCCATCTGATGCCCCCCCATCCAGGCCCCCAGGCACTAGGGCATTTCGGGCAGGAGGGGCACCACCCTGGAGTCCTCCCTGGCACATTCCTGATGGGCACTGGGTCTCTCTTCCTCCAGGGAATCAGGGCCCTCCAGGACCCAAGGGCGCCAAAGGAGAAGTGGGTCCCCCCCGGACCACCAGGTGAGCAACTCTGGACATCCCAGGCAGGAGAGCCATGGCGTGGCCAGCACTGAAGTGTGGTCACACCTAGAGCCGCCACCACAAGCAGGTCCTGGACCCTCACTGGGTGGTGACCACCTCACCCTGCGGGAGGAAGGAAGCCCCTTCTGGGTTGATGGGGGCCTCATAGGACCTGGATTTGGGGGCGAGGGTGGCTGCAGGGCACAAGCCCAGCAAGATAGCCCCATCACCTCCTGAGGAGCAGATGGCTGCCCTTCCATGCTAGACCCAGGTGGGCACTGCGCAGAGACACAGCAGCTTCAGTGTCCTGAGATGCCCCCTCCCCTCCACGGGGCCGGGGGTCGGCACTGGAGGACCCTCTGTCGAGAAACTCTCCAGGGTTTCATGTGGGAAGGAGGCGTTGCCCGACAGGCCGTCTGGAGGGTGAGCCCAGCACCCCTGCTCCCCCAAAGGACAAGAATTCCCCCCTGAGCCCCACCTCCATTGAGGGTGGCAGGGCTGCTTGGATGTCCTGCCAAGACCACTGAGAACAGCTGGATAAAATGTGAGAAAACCACTGTTTGAGGATGTCTGGGGGCTGGCAGAGCAGAAGCCCAGAGAGCCAGGCTAGCCTCGGGCGCCTTTCACCACCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCACCGCCAGGGTTCCCTCTCGCCACCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCGCTCGCCGCCAGGGTCCCCTCTCGCTGCCAGGGTCCTCTGCAGAGGAGGCCGCCATACCTGCTCTTGCTGGGGCTGCACTCTGGGGTGGGAAGGGACCAGGCAGGCAGAGGCCGAGTCTGGGCCGGGACATCCTTAAGGCCTGTGGAGGCAAAGGCAGGCAGAAAGCAAGCGGGAAGATGGAAGATGTGCCCATGCCAGCCTTGGATCTCTCAGCGTCACACACGACGCCCAGGAAGGAGTGAATGATGCACAGATGACCAGAAACCAGGAGAAGAGGCCAGTGACACACCAGACCAGGAGGCCCAGCTCATGGGGTCATCGGACCCACCTTGAACTCTGAAGGTCACACATTCAAAAGCCACAGGAAGTCTGGAGATGGCAGCAGAGAGCTGGGAAGCTCAGAGGTGTCAGGATGAACCTGGGGCTGAAGGCGGAACAGTTGGAGATTGAGACCTGTGTATAGGTTTTGGTCGACGTGGGATTGCTTGTCCCTGGGAGCCAGAACGAGGGCTCCGAGGGCTCTAGAGGGAACAGTGTTTGCAGGCGGAATGGCTGATGCTCTTCCAAAGCCAAGGAAGGCTCAGAGCATTCCCCTCATTCGAAGGATCAACAATTAGAGTGACGAGATTTCTCAACAAAACGGGAGAAGCCAGAAGACCATAAATGGTTTCCAAAATATCCAAGAAAGTCAATTGCCAGTGTAGACTCCGACAGCCAGTGGTACTCCCGTGGCCTTCAGAACGAGGATGACATGCAGGCCAGCCACTCCAGACCCGAGCTGTGTCGGCAGTGGAGGGTATTTCAGGGGGAAGACAAGGCCAAGGGAAAGGAGTGCAGAGATGGGGAGAGACAACGCTGGCAGGAACCGGCGTCCCAGCGACAGGGAGGTCAGAGGCTCCCTCGGGAACCAGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGCGGGAACCCGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGCAGGAACCGGCACAGGCTGCACAGCATGGTGTCCCATCGTCAGTGCAATTAGAGGTTCCCGTGGTCTCAGCG
|
pathogenic
| 320,441 |
Is the genetic variant on chromosome 21, position 45503996, gene SLC19A1, benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
CAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCGGAGCAGGGCCCAGCCCGAGAGGGAGCACGGGTCCTGACAGCAGCAGTGACCTCCAACCCCAGGGACGGCTCCTGTGGGATGGGGGGCCCTGGGGGTGTGGAGCCACGTGCTCCAAAGCTTCTGGGTTACAGGGCATGCCTCCAGGGGTGAGGTGGTCCCCACCCCGGTCACGGTTTCAGGGGAACAGTCACAGGAGAAGGTTTGCCCAGGGCCGTCTAAGGTCCCACCTGGAAGGAGAAGGGGTTTTGTCATCTCCGTTGACAAAATTACAGCTTTAAGTAGTACCTGTTTCTACACATCAGCCTAAGATGTTAAAGAACAAACAGCATTTAAAGAACAACAAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACCCTGGGAGGAGGCAGAGGAGAGATGGGAAGGGCAGGACGCTGGGAGGAAAGAAGCGCGTTGCTCTTTTCTCAGCACGTCTCCCACGTAAGCCCCACAAGTGGATCTGCAGGTGAACTCTCAGGATGAGTAAGTCAATGTACCGAAGTCACCAGATGGAAGGGCAGTCTAGAAAAACCACCACCGAGTCCTAAGCAATTAAAAATGAAGTTTTAAAAAGGCACCATTGTGAATAATGTCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGTGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGG
|
CAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCGGAGCAGGGCCCAGCCCGAGAGGGAGCACGGGTCCTGACAGCAGCAGTGACCTCCAACCCCAGGGACGGCTCCTGTGGGATGGGGGGCCCTGGGGGTGTGGAGCCACGTGCTCCAAAGCTTCTGGGTTACAGGGCATGCCTCCAGGGGTGAGGTGGTCCCCACCCCGGTCACGGTTTCAGGGGAACAGTCACAGGAGAAGGTTTGCCCAGGGCCGTCTAAGGTCCCACCTGGAAGGAGAAGGGGTTTTGTCATCTCCGTTGACAAAATTACAGCTTTAAGTAGTACCTGTTTCTACACATCAGCCTAAGATGTTAAAGAACAAACAGCATTTAAAGAACAACAAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACCCTGGGAGGAGGCAGAGGAGAGATGGGAAGGGCAGGACGCTGGGAGGAAAGAAGCGCGTTGCTCTTTTCTCAGCACGTCTCCCACGTAAGCCCCACAAGTGGATCTGCAGGTGAACTCTCAGGATGAGTAAGTCAATGTACCGAAGTCACCAGATGGAAGGGCAGTCTAGAAAAACCACCACCGAGTCCTAAGCAATTAAAAATGAAGTTTTAAAAAGGCACCATTGTGAATAATGTCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGTGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGNNNN
|
benign
| 320,445 |
Regarding the variant at chromosome 21 and position 45504028, affecting gene SLC19A1: benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
CAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCGGAGCAGGGCCCAGCCCGAGAGGGAGCACGGGTCCTGACAGCAGCAGTGACCTCCAACCCCAGGGACGGCTCCTGTGGGATGGGGGGCCCTGGGGGTGTGGAGCCACGTGCTCCAAAGCTTCTGGGTTACAGGGCATGCCTCCAGGGGTGAGGTGGTCCCCACCCCGGTCACGGTTTCAGGGGAACAGTCACAGGAGAAGGTTTGCCCAGGGCCGTCTAAGGTCCCACCTGGAAGGAGAAGGGGTTTTGTCATCTCCGTTGACAAAATTACAGCTTTAAGTAGTACCTGTTTCTACACATCAGCCTAAGATGTTAAAGAACAAACAGCATTTAAAGAACAACAAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACCCTGGGAGGAGGCAGAGGAGAGATGGGAAGGGCAGGACGCTGGGAGGAAAGAAGCGCGTTGCTCTTTTCTCAGCACGTCTCCCACGTAAGCCCCACAAGTGGATCTGCAGGTGAACTCTCAGGATGAGTAAGTCAATGTACCGAAGTCACCAGATGGAAGGGCAGTCTAGAAAAACCACCACCGAGTCCTAAGCAATTAAAAATGAAGTTTTAAAAAGGCACCATTGTGAATAATGTCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGTGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGG
|
CAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCGGAGCAGGGCCCAGCCCGAGAGGGAGCACGGGTCCTGACAGCAGCAGTGACCTCCAACCCCAGGGACGGCTCCTGTGGGATGGGGGGCCCTGGGGGTGTGGAGCCACGTGCTCCAAAGCTTCTGGGTTACAGGGCATGCCTCCAGGGGTGAGGTGGTCCCCACCCCGGTCACGGTTTCAGGGGAACAGTCACAGGAGAAGGTTTGCCCAGGGCCGTCTAAGGTCCCACCTGGAAGGAGAAGGGGTTTTGTCATCTCCGTTGACAAAATTACAGCTTTAAGTAGTACCTGTTTCTACACATCAGCCTAAGATGTTAAAGAACAAACAGCATTTAAAGAACAACAAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACCCTGGGAGGAGGCAGAGGAGAGATGGGAAGGGCAGGACGCTGGGAGGAAAGAAGCGCGTTGCTCTTTTCTCAGCACGTCTCCCACGTAAGCCCCACAAGTGGATCTGCAGGTGAACTCTCAGGATGAGTAAGTCAATGTACCGAAGTCACCAGATGGAAGGGCAGTCTAGAAAAACCACCACCGAGTCCTAAGCAATTAAAAATGAAGTTTTAAAAAGGCACCATTGTGAATAATGTCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGTGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGNNN
|
benign
| 320,448 |
Gene SLC19A1 variant at chromosome 21, position 45504511—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
AAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACCCTGGGAGGAGGCAGAGGAGAGATGGGAAGGGCAGGACGCTGGGAGGAAAGAAGCGCGTTGCTCTTTTCTCAGCACGTCTCCCACGTAAGCCCCACAAGTGGATCTGCAGGTGAACTCTCAGGATGAGTAAGTCAATGTACCGAAGTCACCAGATGGAAGGGCAGTCTAGAAAAACCACCACCGAGTCCTAAGCAATTAAAAATGAAGTTTTAAAAAGGCACCATTGTGAATAATGTCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGTGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGG
|
AAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACCCTGGGAGGAGGCAGAGGAGAGATGGGAAGGGCAGGACGCTGGGAGGAAAGAAGCGCGTTGCTCTTTTCTCAGCACGTCTCCCACGTAAGCCCCACAAGTGGATCTGCAGGTGAACTCTCAGGATGAGTAAGTCAATGTACCGAAGTCACCAGATGGAAGGGCAGTCTAGAAAAACCACCACCGAGTCCTAAGCAATTAAAAATGAAGTTTTAAAAAGGCACCATTGTGAATAATGTCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGTGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGNNNNNNNNN
|
benign
| 320,460 |
Regarding the variant at chromosome 21 and position 45504511, affecting gene SLC19A1: benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
AAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACCCTGGGAGGAGGCAGAGGAGAGATGGGAAGGGCAGGACGCTGGGAGGAAAGAAGCGCGTTGCTCTTTTCTCAGCACGTCTCCCACGTAAGCCCCACAAGTGGATCTGCAGGTGAACTCTCAGGATGAGTAAGTCAATGTACCGAAGTCACCAGATGGAAGGGCAGTCTAGAAAAACCACCACCGAGTCCTAAGCAATTAAAAATGAAGTTTTAAAAAGGCACCATTGTGAATAATGTCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGTGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGG
|
AAACAGTTATTTGATGAAAATAGATGGGAAGAAGTATTAAACATCAAAAATGAGTGAAGAGAAATTGCGTATGTTTTATATATAAAAATAGCAAGGATCAAGAAAGTCCAAAAATCCAAAGTTAATTCTTTGCAAAGGCGAACAACATTCCTGCACCTCTGCCGGGACTGAGGAAAAGGAGAGAAGCAGCAACAAGCAGGGATTTCAGCAAAGGGCTCCTCCGTGGTCTGGAAGGAGCCACCTGGAACTGCCACAGCTTCACCCTTGGAGAGGGTGGAGGGACCCTCAAGTCAGGGCCAAGACACAGCTGCCTGCCCACCCTGGGAGGAGGCAGAGGAGAGATGGGAAGGGCAGGACGCTGGGAGGAAAGAAGCGCGTTGCTCTTTTCTCAGCACGTCTCCCACGTAAGCCCCACAAGTGGATCTGCAGGTGAACTCTCAGGATGAGTAAGTCAATGTACCGAAGTCACCAGATGGAAGGGCAGTCTAGAAAAACCACCACCGAGTCCTAAGCAATTAAAAATGAAGTTTTAAAAAGGCACCATTGTGAATAATGTCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGTGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGNNNNNNNNNNNNNNNNNN
|
benign
| 320,461 |
Evaluate this variant at chromosome 21, position 45505235, gene SLC19A1: benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
ACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGTGCGGCCATGCTTGCAGGGCCCCGGGAAGGTTTACCTTCGTGTGGCAAAGGTGAGGACGGGTAGAAGCCCCATGCCGCCGAAACGGCCTGTGACATCCGTGGGAGCCTCCATGGCAGAACACTGCACACTGACACAGCCCTGACTCCTGGAGCCCTCCCACCTTCCAACACACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTGGAGCCCTCCCACCTTCCCTCTAGCACTCCCTCCCTCTCGCCACCGGCCCCCTCCTAGGCCTGGCCAGCCCCTGCAGCACCCCAGACAGTGAATCCCACTCCAGTCCCTTCATCTGGCCAGGGAGAGGCTGCCAGTCTCATAGCAGATGCTGAGCTGGTGCCCACTGTGTGCCAGGTGTGCTTGTAGGCACCCGGATGCAGCCCCATCCTAACTTTCAGGGGCTTTGGTCCTGACAGGAGGAGGCAGGGGATGGCATCCTAGCAAACGCGTGCTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCTGTGGACTGG
|
ACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCCGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGTGCGGCCATGCTTGCAGGGCCCCGGGAAGGTTTACCTTCGTGTGGCAAAGGTGAGGACGGGTAGAAGCCCCATGCCGCCGAAACGGCCTGTGACATCCGTGGGAGCCTCCATGGCAGAACACTGCACACTGACACAGCCCTGACTCCTGGAGCCCTCCCACCTTCCAACACACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTGGAGCCCTCCCACCTTCCCTCTAGCACTCCCTCCCTCTCGCCACCGGCCCCCTCCTAGGCCTGGCCAGCCCCTGCAGCACCCCAGACAGTGAATCCCACTCCAGTCCCTTCATCTGGCCAGGGAGAGGCTGCCAGTCTCATAGCAGATGCTGAGCTGGTGCCCACTGTGTGCCAGGTGTGCTTGTAGGCACCCGGATGCAGCCCCATCCTAACTTTCAGGGGCTTTGGTCCTGACAGGAGGAGGCAGGGGATGGCATCCTAGCAAACGCGTGCTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCT
|
benign
| 320,470 |
Clinical classification of chromosome 21, position 45505235, gene SLC19A1: benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Knobloch_syndrome']
|
ACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGTGCGGCCATGCTTGCAGGGCCCCGGGAAGGTTTACCTTCGTGTGGCAAAGGTGAGGACGGGTAGAAGCCCCATGCCGCCGAAACGGCCTGTGACATCCGTGGGAGCCTCCATGGCAGAACACTGCACACTGACACAGCCCTGACTCCTGGAGCCCTCCCACCTTCCAACACACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTGGAGCCCTCCCACCTTCCCTCTAGCACTCCCTCCCTCTCGCCACCGGCCCCCTCCTAGGCCTGGCCAGCCCCTGCAGCACCCCAGACAGTGAATCCCACTCCAGTCCCTTCATCTGGCCAGGGAGAGGCTGCCAGTCTCATAGCAGATGCTGAGCTGGTGCCCACTGTGTGCCAGGTGTGCTTGTAGGCACCCGGATGCAGCCCCATCCTAACTTTCAGGGGCTTTGGTCCTGACAGGAGGAGGCAGGGGATGGCATCCTAGCAAACGCGTGCTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCTGTGGACTGG
|
ACAGTGTAAAAGTGTTCCTATTTCTCTACATCCTCTCCGGCACCTGTTGTTTCCTTACTTTTTAACGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGTGCGGCCATGCTTGCAGGGCCCCGGGAAGGTTTACCTTCGTGTGGCAAAGGTGAGGACGGGTAGAAGCCCCATGCCGCCGAAACGGCCTGTGACATCCGTGGGAGCCTCCATGGCAGAACACTGCACACTGACACAGCCCTGACTCCTGGAGCCCTCCCACCTTCCAACACACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTGGAGCCCTCCCACCTTCCCTCTAGCACTCCCTCCCTCTCGCCACCGGCCCCCTCCTAGGCCTGGCCAGCCCCTGCAGCACCCCAGACAGTGAATCCCACTCCAGTCCCTTCATCTGGCCAGGGAGAGGCTGCCAGTCTCATAGCAGATGCTGAGCTGGTGCCCACTGTGTGCCAGGTGTGCTTGTAGGCACCCGGATGCAGCCCCATCCTAACTTTCAGGGGCTTTGGTCCTGACAGGAGGAGGCAGGGGATGGCATCCTAGCAAACGCGTGCTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCTGTGGACTGGNNNNNNNNNN
|
pathogenic
| 320,472 |
Does the variant impacting SLC19A1 on chromosome 21, position 45505371, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic
|
GATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGTGCGGCCATGCTTGCAGGGCCCCGGGAAGGTTTACCTTCGTGTGGCAAAGGTGAGGACGGGTAGAAGCCCCATGCCGCCGAAACGGCCTGTGACATCCGTGGGAGCCTCCATGGCAGAACACTGCACACTGACACAGCCCTGACTCCTGGAGCCCTCCCACCTTCCAACACACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTGGAGCCCTCCCACCTTCCCTCTAGCACTCCCTCCCTCTCGCCACCGGCCCCCTCCTAGGCCTGGCCAGCCCCTGCAGCACCCCAGACAGTGAATCCCACTCCAGTCCCTTCATCTGGCCAGGGAGAGGCTGCCAGTCTCATAGCAGATGCTGAGCTGGTGCCCACTGTGTGCCAGGTGTGCTTGTAGGCACCCGGATGCAGCCCCATCCTAACTTTCAGGGGCTTTGGTCCTGACAGGAGGAGGCAGGGGATGGCATCCTAGCAAACGCGTGCTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCTGTGGACTGGGAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGCAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTGCTGTGGACTGGGAGGGCCGGGTGCTGGGCAGGGAGCGTACCCTGGCACAGGCTTGGAGG
|
GATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGTGCGGCCATGCTTGCAGGGCCCCGGGAAGGTTTACCTTCGTGTGGCAAAGGTGAGGACGGGTAGAAGCCCCATGCCGCCGAAACGGCCTGTGACATCCGTGGGAGCCTCCATGGCAGAACACTGCACACTGACACAGCCCTGACTCCTGGAGCCCTCCCACCTTCCAACACACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTGGAGCCCTCCCACCTTCCCTCTAGCACTCCCTCCCTCTCGCCACCGGCCCCCTCCTAGGCCTGGCCAGCCCCTGCAGCACCCCAGACAGTGAATCCCACTCCAGTCCCTTCATCTGGCCAGGGAGAGGCTGCCAGTCTCATAGCAGATGCTGAGCTGGTGCCCACTGTGTGCCAGGTGTGCTTGTAGGCACCCGGATGCAGCCCCATCCTAACTTTCAGGGGCTTTGGTCCTGACAGGAGGAGGCAGGGGATGGCATCCTAGCAAACGCGTGCTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCTGTGGACTGGGAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGCAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTGCTGTGGACTGGGAGGGCCGGGTGCTGGGCAGGGAGCGTACCCTGGCACAGGCTTGGAGGNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 320,479 |
Located at chromosome 21 position 45505379, the variant affecting gene SLC19A1—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Knobloch_syndrome_1']
|
GCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGTGCGGCCATGCTTGCAGGGCCCCGGGAAGGTTTACCTTCGTGTGGCAAAGGTGAGGACGGGTAGAAGCCCCATGCCGCCGAAACGGCCTGTGACATCCGTGGGAGCCTCCATGGCAGAACACTGCACACTGACACAGCCCTGACTCCTGGAGCCCTCCCACCTTCCAACACACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTGGAGCCCTCCCACCTTCCCTCTAGCACTCCCTCCCTCTCGCCACCGGCCCCCTCCTAGGCCTGGCCAGCCCCTGCAGCACCCCAGACAGTGAATCCCACTCCAGTCCCTTCATCTGGCCAGGGAGAGGCTGCCAGTCTCATAGCAGATGCTGAGCTGGTGCCCACTGTGTGCCAGGTGTGCTTGTAGGCACCCGGATGCAGCCCCATCCTAACTTTCAGGGGCTTTGGTCCTGACAGGAGGAGGCAGGGGATGGCATCCTAGCAAACGCGTGCTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCTGTGGACTGGGAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGCAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTGCTGTGGACTGGGAGGGCCGGGTGCTGGGCAGGGAGCGTACCCTGGCACAGGCTTGGAGGGGCAGGTG
|
GCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTTTTTGATGGGGTTGTTTGTGGCACATATACACCATGGAATACTACGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAACTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACTAACCTGCACATCATGCACATGTACCCTAAAACTTAAAGTATAATAATAAATTTAAAAAATTTAAAAATAAAATAAAAATAAAAAGGCACCATTAACAAAAACATCAGAAAGTATCGGTTAACTAGGAAGAACCTAATTAAATACGCGATCTCTACCGCGAAATGGCTAGAAGGGCCTCAGGCAAACCCACCAGTGCTGGGGGCTGCAGAGGGAACCCGGCGCTGTCAGACACCACCTCAGCGAGACCCCGCCTGTCTCTCTCTTGCAGGGCAGTTTCCGTTTGACTTTCTTCAGTTGGAGGCTGAAATGAAGGTGGGTGACCTCCCTGTGGGGTTGGGGGCCCCCAAGGTCCTGTACATCCCGCTGGGTGGCTGCTCCCAATTTCTCGCCCCATCCGGCCCAAGCCCCCTTCCTGTTCAGCCCTGCGAGGGGCGCTGGCTCCAGAGGGTGTCGAGGGCGTCCCTCAGGATGTTCCTGTCCCCGGCTCAGTTTTTGGGGGACTCGGCTGATGCAGTGGGAGGTGGGGAGTCGAGCCCTATTCTATGCAGCCAGCAGCTCCCAGGCCTGGGCTCCGGAAGCTTCTGACTGCCCAGCCCTGGCTCGGGGGGATGGGAGGCCACCTGTGGCTTGTAGGGGTTCAGGGCTCCCGTGTAACAAGTGTTTCCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCCCCCGGCCCCCCAGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCAGTAAGTCCCAGCCTGTGCAGGCAGAGCCCATGTCCCAGGGGTCTGGGTGCAGGAGCCGAGGGCAGGTCCAGCCCGGCCTTCGACACCCGCGAAGGCCGGAGCTGCCCCTGCAAGCTCAGCAGCCCCGACATGTCCCTGTCCCCGTGTGGGGACGCAGCAGGCCACATGGGTGTGGGTGCACTGACCCCGGACACCCCCCGTCCCCCTGCAGCGTTCCATGGCCTGCCCTCCTGCTGGGGCCACGTGCATCCACCTCTGCTCCTGGGCCGGGTCAGGTCAGATCAGGGTTTAGGCCCATCAGTCCTGAAAGACTCCAGAGAGCCATGGGCCCCAGCTACTGCCTGGGGGCCCACACTGTTGTCAGGTCTCTGCTGGTCTCTCCCCCGGGATCGCACCCCCAGGGAAGAAGGGGTGATGGTGTGGGGGTTTCTCAGGCTATGGCGTGGGCAGGGAGGGGACCGGTGACTCAGAGGCTGCGCTCGCCAAGGGGGTCTTGGCAGCTGCAGCCCCACAAGCTTGCCCGCCCCCAGTCCAGGGCACGAGGTAACCAGGAAGCGTCTCTTGTCGCCGTCCGTAGGGTCCCAAGGGAGAGAGCATCCGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGCCAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGGCAGAGTAAGTCAGTGGGGAGTGGGCCCCGGGCAGAGGCCGCCTCGTGTGGCTTCGTGTTCCCACCTTGGTTTCTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCTGGAACCATGGGCGCCTCCTCAGGGGTAAGTGTCTGGGCAGCCGGCTGGGCACCTGCGTCCCGTGCCCTGGCTGGTTCTGCAGCCCCTGCCCCTCAGAGACACTCTCCCACGGACCCCACAGGGAGATATACAGGAGGCCAAGATGCGGTTTCCAGGGTGGAAGCGGGGCCAGGCCATGGGGGAATCAGGTGGACCCAGGAGGACGACCACCAGCCGGGAAGTGCCCAGGGCCTGTACATTGTCCACGGAGGCGCAGGAGCTGGCGGCAGGCAGGGGTCCCCATGGTGCTCATGGGGGCAGCCGCCTCAGTCCACACCTGTCCAAAGCCCTGCGGCCCCTGCCCAGCACCCTGAAACGGGCATTCCTTCCTTCCGCCCCTGCCCCCCGCCCTCCCCGCCAAGCCCCACACCTCTGCATTTGGTCCCAGCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTGCACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGCGTGCAGAACGGGTTCCGGAAGGTCCAGGTGAGCGCTCTGTGTGACGGGTTCTGGACCCGTGGAAGGGCCGAAGCCGCCTCCTGGGGCTTAAGGAAGGCGAGAGGCTCAGGCCCCGGACAGGGATGGGAGCAGGTGGCAGCCAGCGCTTCTTAAACTTTCAAACTTTTGGTAAAGTTTAGTAAAATACTTTTGTGAGCAGTTTTGGGTTTAAAGAAAAGTGAGCTCAAGCTTCTGAAAGTGGATGAACACATGGCGTGTGAGGGGCTCCTGGTGGGTCATGTCACAGTGAACGTTTACAAAGATAAATGTCACCTCACACACCCGATAATAAGACAAGGCGCCTGACGGGACGAGGCGGCAGGGGGGCTCAGGCCCTCCAGGGCCACGTGACGTCCACAGCACGGCCCCGGCTGGGGGGCAGGCTGTCCCGTGGCTCTGCACCCCGCGTTATAAACACCAAGGTGGGATGAAATGCATCCTCTCTGCTTAGCACGGGCCTTGCTCACCAGCCTGGCTCCTCAGACACACCTGGGATTGCCCCTTCCAGGACAGGCCAGCCCCTTTCCTGCTTTCCCAAAATGGTCTGGGTGGCAGGAGTGGCCGCTCTGATCCAGGTGGGTGCGGCCATGCTTGCAGGGCCCCGGGAAGGTTTACCTTCGTGTGGCAAAGGTGAGGACGGGTAGAAGCCCCATGCCGCCGAAACGGCCTGTGACATCCGTGGGAGCCTCCATGGCAGAACACTGCACACTGACACAGCCCTGACTCCTGGAGCCCTCCCACCTTCCAACACACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTGGAGCCCTCCCACCTTCCCTCTAGCACTCCCTCCCTCTCGCCACCGGCCCCCTCCTAGGCCTGGCCAGCCCCTGCAGCACCCCAGACAGTGAATCCCACTCCAGTCCCTTCATCTGGCCAGGGAGAGGCTGCCAGTCTCATAGCAGATGCTGAGCTGGTGCCCACTGTGTGCCAGGTGTGCTTGTAGGCACCCGGATGCAGCCCCATCCTAACTTTCAGGGGCTTTGGTCCTGACAGGAGGAGGCAGGGGATGGCATCCTAGCAAACGCGTGCTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCTGTGGACTGGGAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGCAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTGCTGTGGACTGGGAGGGCCGGGTGCTGGGCAGGGAGCGTACCCTGGCACAGGCTTGGAGGGGCAGGTGNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 320,480 |
Variant chromosome 21, position 45509608, gene SLC19A1: benign or pathogenic? Disease(s)?
|
benign
|
GCTGGAGGCCCGGACACCACTCCCACGAGGGACGGTAAGGAGCCTTTTTTCTGTTGAGACTGGTGGGTGGTCAGGACATGAGGGGGTATGTGCTGTCCCCTGTTTGAGGAACAACACGTGGTCCTTTGGAGTCCTGGAGCTGAACATGTGGCTCACCATCAGCCCCTGCTGCAGAAACTGGTGCAGGACACCCCACTACCTCTGTCTCAGCGCTGGCCCCCCAGTACCTCCGTCTCAGCTGCTGGCCTCACGAGGGAGCCCCTCTCATCCCTCAACTTTCCCAGTTGTGTCTGCCGCTCATTGCCCTCCTCAAGGTCAAAATCCTTGGGGCCAAAATCCACATCTTGTGTCTTTGCCTTCCCTCACCCAAAGTGCCAGACACAAGAATGGATATCTCTAAGAGTGGTGGGTGACTGGGTGGGTGAATCAATGGGGAGGTGGATGGATGGATGGGTGGATGGAGAGGTGGGTGAGTGGATACGTAGGTAGATGGGGAGGTGGATGGATGAGTAGATGGTGGACAGGTGGGTGAGTGGATGGATGGTGGTCAGGCGGGTGAGTGGACGGGTGGGTGGGTGGATGGAAAGGTGGGTGAGTGGATAGGTAGGTAGCTGGGGAGATGGATGGATGGTGGACAGGTGGGTGAGTGTATGAATGGGTGGGTGGATAGTGGGTAAGTGGGTGAGTGGATGGTGGACAGGTGGGTGAGTGGATGGGTAGGTAGATGGGGAGGTGGATGGGTGGTTGCTGGACAGGTGGGTGAGTGGATAGATGGGCAGATGGATGGTGGACAAGTGGGTGAGTGGATGGGTGGATGGATGGTGGGCAGATGGATGGTGGATAGGTAGATGAGTGGATGAATGGGTGGATGGATGGTGGGTAAGTGGGTGAGTGGATGGGTGGATGGACAGGTGGGTGAGTGGATGGGTGGGTGGATGGATGGTGGGTAAGTGGGTTAGTGGATGGGTGGGTGGATGGATGGGTAGAAATATTTTCGTTTTCCTAAGTGTTGCGTCCAGCTGCTGTCGGCCCCTCCTTGAGTAGAGGTCATGATTCCTTAATTGGCTCAGGAGTGAGGCCTGATGTGGAGCAGTGTCAGGGGCTCCACAGCGGCCTGTCTCCTCACAGGGTTCAGCCCAGTCTGCTCTCACTCATTTGCTGATTCATTCTTTCATTCAGCCAGTCAATAGTCATGGCCCCTCCTGTGTGCCGGGTGGCCATGGATATTGCCCTGGGTAACACACAGCCTGGCCCTGTGGAGCAGACAGTGGGGACAGCCATGTGGACAGGGTGCAGGTGGATGGCAATGGCAGCTGGGTCAGGAGGGGCTGAGGGCCGTGGGGAAAGGTGCAGAATCAATAGGGGCATCCGGACTGGGGTGCAGGCCTGGGGGCTGGGATTTCTAGGGTGGAGGTCACCTCTGAGGGAGACAGAGCAAGGCCCTGGGAGATTAGAAGGTCGAAGGTCGCCGTGTTGAGGTCAGGGGCCCTGAATTGGAGCCGCGGCAAAGGAGAGGGCAGGTCAGGGCACGTGGTGAGTGATTGCTGCGGCTTCTGAGCACGGCTGGGTCTGTGGGGCCTGAGCAGAGGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGACATCCTGGCCAGCCCCCCTCGCCTGCCCGAGCCCCAGCCCTACCCCGGAGCCCCGCACCACAGCTCCTACGTGCACCTGCGGCCGGCGCGACCCACAAGCCCACCCGCCCACAGCCACCGCGACTTCCAGCCGGTGGTGAGTGCCCCCCCAAAGTGGGCTTGGCTCCATCTAGCCCCTCGGCTCTCGGCAGCAGAAGAGGGCCCAGCCCCTGCAGAGCTGCTGGGGGTCCCAGGCTTCGGCCATGGGTGGGGGTCTGGCGGCTCAGGGCCACTCAGGGCGGCTTGGCTGGCCCTGGGACTTGCCCTCTGGTGGCCAAGCAGTGGTCATGAAAGTCCAGCCGCTGTCACATCCTTGAGGAACCGGCGTACCTCCGCCTACAGCGGCAGCTGGGGGCACCCACGTGGCCCGGGGCTGCTCTGACCTGGCAGCGTATGGGGGCTGCTGCCTGGGCCCCTCAGTGTGTCACTTGCGCGCCTCCCGCTCAGCGCCCCTCGGCCGTGCCTGTCCACACAGGTGCGGGGCCGGGGTGGTGCGCCCGGGGCCTGGGTGCAGGGGGCAGCGTGGGACACAGCCCGTGACGCGCCCCTCTCCCCGCAGCTCCACCTGGTTGCGCTCAACAGCCCCCTGTCAGGCGGCATGCGGGGCATCCGCGGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGGCCGTGGGGCTGGCGGGCACCTTCCGCGCCTTCCTGTCCTCGCGCCTGCAGGACCTGTACAGCATCGTGCGCCGTGCCGACCGCGCAGCCGTGCCCATCGTCAACCTCAAGGTGGGTCAGTCCAGTCCTGAGGGCGCGGGCTCCTCGGCCCCCACTTGACCTCTGGGGTGAACTCCCAGCGGGGAGCTCCCCTCTAGGGCCTCTGGAGGCCACCATGTTACAGACACTGGCGCCTAGGCTGGCGACTTCAGGGCAGGCTCCGGGTGGGTCACACCCCTCCAGGCTCAGGCCAGGCCTCTGCATCCCTGGGCACTGCCACGTCCCCCAGGGCATCCCATGAGGCCCCCCCGTGGCCCCCTGACCCCCCGCTCCCCCGGCAGTGCCCCTCAGAGGGTCCCATGCTGCTGGACCAAGTGTCCACACAGGTGATAGGGCTCACATACAAGCCTGGAATCAGGAACCGTCCTTTGGGCCTCTAGTGCCATGCGGGCTGGTGGCCCCTCTGCCACAGCACCCATGTGGCTTTATTCTGTGGCCCCTTTTCGTGCACTGGGCTGTGGCTTCTGGGTGCCCCGGGGAGCACCCACATTCCCCAGAACCAACAGCAGAGGGGTCAGAGACCCAGGGCTGGGAGCAGGCGGCTGTGGCCTGGCGTTAGGGGACAGGGTCCCCTGCCTTAGCCAAGGCCTCTTGGGGTCTGCAGAGGCTGCCTGGCCAGGCCTGGCTCCCCCACGCTTGTTCCCTGGCAGGACATGCCCAGGGGCTGCAGAACCCCACCCCCCAAAAAAACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCCCACACACCACACACACATACACACGGTTTCTCTTCCAGGACGAGCTGCTGTTTCCCAGCTGGGAGGCTCTGTTCTCAGGCTCTGAGGGTCCGCTGAAGCCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCCTGAGGCACCCCACCTGGTAGGTTCCCAGTGCCGTGTGAGCAGCTCTGAGAGCCCCAGCCAGGGAAGGCGGGCGGGCGGGCTCCTATCTGCAGTTTCCCCCCGAGTTTTTGGACAAATCTTATACATGCTCATTACTTTAAAATTACAAAATCCAAAAGAGCATTGAGAAAAATGAGAACTGCTCTGAGAAGTCATCATTAGCAATGCGTTTGAGAGCCAGGTAGTTGTAAGAAGGCCCCGAAGGTGCCCCCGGCCCTCTGCTCATGGCGGATAGACTCCATGTCTCCCGGATGTCACCAAGCCTGTGGTCAGCCATGTAAGCAGCGCAGCGAGTTTATTCACCGAGAATAAACTCCTCAAAGGGCAACACGGAGTCCGAGCATGTGTGCCCTTAAAATGTTGACAGAAATTTCCAGGGTATCTAGAAGAACGCTTCGTCCCAAAT
|
GCTGGAGGCCCGGACACCACTCCCACGAGGGACGGTAAGGAGCCTTTTTTCTGTTGAGACTGGTGGGTGGTCAGGACATGAGGGGGTATGTGCTGTCCCCTGTTTGAGGAACAACACGTGGTCCTTTGGAGTCCTGGAGCTGAACATGTGGCTCACCATCAGCCCCTGCTGCAGAAACTGGTGCAGGACACCCCACTACCTCTGTCTCAGCGCTGGCCCCCCAGTACCTCCGTCTCAGCTGCTGGCCTCACGAGGGAGCCCCTCTCATCCCTCAACTTTCCCAGTTGTGTCTGCCGCTCATTGCCCTCCTCAAGGTCAAAATCCTTGGGGCCAAAATCCACATCTTGTGTCTTTGCCTTCCCTCACCCAAAGTGCCAGACACAAGAATGGATATCTCTAAGAGTGGTGGGTGACTGGGTGGGTGAATCAATGGGGAGGTGGATGGATGGATGGGTGGATGGAGAGGTGGGTGAGTGGATACGTAGGTAGATGGGGAGGTGGATGGATGAGTAGATGGTGGACAGGTGGGTGAGTGGATGGATGGTGGTCAGGCGGGTGAGTGGACGGGTGGGTGGGTGGATGGAAAGGTGGGTGAGTGGATAGGTAGGTAGCTGGGGAGATGGATGGATGGTGGACAGGTGGGTGAGTGTATGAATGGGTGGGTGGATAGTGGGTAAGTGGGTGAGTGGATGGTGGACAGGTGGGTGAGTGGATGGGTAGGTAGATGGGGAGGTGGATGGGTGGTTGCTGGACAGGTGGGTGAGTGGATAGATGGGCAGATGGATGGTGGACAAGTGGGTGAGTGGATGGGTGGATGGATGGTGGGCAGATGGATGGTGGATAGGTAGATGAGTGGATGAATGGGTGGATGGATGGTGGGTAAGTGGGTGAGTGGATGGGTGGATGGACAGGTGGGTGAGTGGATGGGTGGGTGGATGGATGGTGGGTAAGTGGGTTAGTGGATGGGTGGGTGGATGGATGGGTAGAAATATTTTCGTTTTCCTAAGTGTTGCGTCCAGCTGCTGTCGGCCCCTCCTTGAGTAGAGGTCATGATTCCTTAATTGGCTCAGGAGTGAGGCCTGATGTGGAGCAGTGTCAGGGGCTCCACAGCGGCCTGTCTCCTCACAGGGTTCAGCCCAGTCTGCTCTCACTCATTTGCTGATTCATTCTTTCATTCAGCCAGTCAATAGTCATGGCCCCTCCTGTGTGCCGGGTGGCCATGGATATTGCCCTGGGTAACACACAGCCTGGCCCTGTGGAGCAGACAGTGGGGACAGCCATGTGGACAGGGTGCAGGTGGATGGCAATGGCAGCTGGGTCAGGAGGGGCTGAGGGCCGTGGGGAAAGGTGCAGAATCAATAGGGGCATCCGGACTGGGGTGCAGGCCTGGGGGCTGGGATTTCTAGGGTGGAGGTCACCTCTGAGGGAGACAGAGCAAGGCCCTGGGAGATTAGAAGGTCGAAGGTCGCCGTGTTGAGGTCAGGGGCCCTGAATTGGAGCCGCGGCAAAGGAGAGGGCAGGTCAGGGCACGTGGTGAGTGATTGCTGCGGCTTCTGAGCACGGCTGGGTCTGTGGGGCCTGAGCAGAGGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGACATCCTGGCCAGCCCCCCTCGCCTGCCCGAGCCCCAGCCCTACCCCGGAGCCCCGCACCACAGCTCCTACGTGCACCTGCGGCCGGCGCGACCCACAAGCCCACCCGCCCACAGCCACCGCGACTTCCAGCCGGTGGTGAGTGCCCCCCAAAGTGGGCTTGGCTCCATCTAGCCCCTCGGCTCTCGGCAGCAGAAGAGGGCCCAGCCCCTGCAGAGCTGCTGGGGGTCCCAGGCTTCGGCCATGGGTGGGGGTCTGGCGGCTCAGGGCCACTCAGGGCGGCTTGGCTGGCCCTGGGACTTGCCCTCTGGTGGCCAAGCAGTGGTCATGAAAGTCCAGCCGCTGTCACATCCTTGAGGAACCGGCGTACCTCCGCCTACAGCGGCAGCTGGGGGCACCCACGTGGCCCGGGGCTGCTCTGACCTGGCAGCGTATGGGGGCTGCTGCCTGGGCCCCTCAGTGTGTCACTTGCGCGCCTCCCGCTCAGCGCCCCTCGGCCGTGCCTGTCCACACAGGTGCGGGGCCGGGGTGGTGCGCCCGGGGCCTGGGTGCAGGGGGCAGCGTGGGACACAGCCCGTGACGCGCCCCTCTCCCCGCAGCTCCACCTGGTTGCGCTCAACAGCCCCCTGTCAGGCGGCATGCGGGGCATCCGCGGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGGCCGTGGGGCTGGCGGGCACCTTCCGCGCCTTCCTGTCCTCGCGCCTGCAGGACCTGTACAGCATCGTGCGCCGTGCCGACCGCGCAGCCGTGCCCATCGTCAACCTCAAGGTGGGTCAGTCCAGTCCTGAGGGCGCGGGCTCCTCGGCCCCCACTTGACCTCTGGGGTGAACTCCCAGCGGGGAGCTCCCCTCTAGGGCCTCTGGAGGCCACCATGTTACAGACACTGGCGCCTAGGCTGGCGACTTCAGGGCAGGCTCCGGGTGGGTCACACCCCTCCAGGCTCAGGCCAGGCCTCTGCATCCCTGGGCACTGCCACGTCCCCCAGGGCATCCCATGAGGCCCCCCCGTGGCCCCCTGACCCCCCGCTCCCCCGGCAGTGCCCCTCAGAGGGTCCCATGCTGCTGGACCAAGTGTCCACACAGGTGATAGGGCTCACATACAAGCCTGGAATCAGGAACCGTCCTTTGGGCCTCTAGTGCCATGCGGGCTGGTGGCCCCTCTGCCACAGCACCCATGTGGCTTTATTCTGTGGCCCCTTTTCGTGCACTGGGCTGTGGCTTCTGGGTGCCCCGGGGAGCACCCACATTCCCCAGAACCAACAGCAGAGGGGTCAGAGACCCAGGGCTGGGAGCAGGCGGCTGTGGCCTGGCGTTAGGGGACAGGGTCCCCTGCCTTAGCCAAGGCCTCTTGGGGTCTGCAGAGGCTGCCTGGCCAGGCCTGGCTCCCCCACGCTTGTTCCCTGGCAGGACATGCCCAGGGGCTGCAGAACCCCACCCCCCAAAAAAACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCCCACACACCACACACACATACACACGGTTTCTCTTCCAGGACGAGCTGCTGTTTCCCAGCTGGGAGGCTCTGTTCTCAGGCTCTGAGGGTCCGCTGAAGCCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCCTGAGGCACCCCACCTGGTAGGTTCCCAGTGCCGTGTGAGCAGCTCTGAGAGCCCCAGCCAGGGAAGGCGGGCGGGCGGGCTCCTATCTGCAGTTTCCCCCCGAGTTTTTGGACAAATCTTATACATGCTCATTACTTTAAAATTACAAAATCCAAAAGAGCATTGAGAAAAATGAGAACTGCTCTGAGAAGTCATCATTAGCAATGCGTTTGAGAGCCAGGTAGTTGTAAGAAGGCCCCGAAGGTGCCCCCGGCCCTCTGCTCATGGCGGATAGACTCCATGTCTCCCGGATGTCACCAAGCCTGTGGTCAGCCATGTAAGCAGCGCAGCGAGTTTATTCACCGAGAATAAACTCCTCAAAGGGCAACACGGAGTCCGAGCATGTGTGCCCTTAAAATGTTGACAGAAATTTCCAGGGTATCTAGAAGAACGCTTCGTCCCAAATN
|
benign
| 320,506 |
Clinical impact (benign or pathogenic) of the variant at chromosome 21, location 45510090, gene SLC19A1: what disease(s) if pathogenic?
|
pathogenic; ['Hereditary_glaucoma,_primary_closed-angle', 'Knobloch_syndrome', 'Knobloch_syndrome_1', 'Macular_dystrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa']
|
TAGGTAGATGGGGAGGTGGATGGATGAGTAGATGGTGGACAGGTGGGTGAGTGGATGGATGGTGGTCAGGCGGGTGAGTGGACGGGTGGGTGGGTGGATGGAAAGGTGGGTGAGTGGATAGGTAGGTAGCTGGGGAGATGGATGGATGGTGGACAGGTGGGTGAGTGTATGAATGGGTGGGTGGATAGTGGGTAAGTGGGTGAGTGGATGGTGGACAGGTGGGTGAGTGGATGGGTAGGTAGATGGGGAGGTGGATGGGTGGTTGCTGGACAGGTGGGTGAGTGGATAGATGGGCAGATGGATGGTGGACAAGTGGGTGAGTGGATGGGTGGATGGATGGTGGGCAGATGGATGGTGGATAGGTAGATGAGTGGATGAATGGGTGGATGGATGGTGGGTAAGTGGGTGAGTGGATGGGTGGATGGACAGGTGGGTGAGTGGATGGGTGGGTGGATGGATGGTGGGTAAGTGGGTTAGTGGATGGGTGGGTGGATGGATGGGTAGAAATATTTTCGTTTTCCTAAGTGTTGCGTCCAGCTGCTGTCGGCCCCTCCTTGAGTAGAGGTCATGATTCCTTAATTGGCTCAGGAGTGAGGCCTGATGTGGAGCAGTGTCAGGGGCTCCACAGCGGCCTGTCTCCTCACAGGGTTCAGCCCAGTCTGCTCTCACTCATTTGCTGATTCATTCTTTCATTCAGCCAGTCAATAGTCATGGCCCCTCCTGTGTGCCGGGTGGCCATGGATATTGCCCTGGGTAACACACAGCCTGGCCCTGTGGAGCAGACAGTGGGGACAGCCATGTGGACAGGGTGCAGGTGGATGGCAATGGCAGCTGGGTCAGGAGGGGCTGAGGGCCGTGGGGAAAGGTGCAGAATCAATAGGGGCATCCGGACTGGGGTGCAGGCCTGGGGGCTGGGATTTCTAGGGTGGAGGTCACCTCTGAGGGAGACAGAGCAAGGCCCTGGGAGATTAGAAGGTCGAAGGTCGCCGTGTTGAGGTCAGGGGCCCTGAATTGGAGCCGCGGCAAAGGAGAGGGCAGGTCAGGGCACGTGGTGAGTGATTGCTGCGGCTTCTGAGCACGGCTGGGTCTGTGGGGCCTGAGCAGAGGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGACATCCTGGCCAGCCCCCCTCGCCTGCCCGAGCCCCAGCCCTACCCCGGAGCCCCGCACCACAGCTCCTACGTGCACCTGCGGCCGGCGCGACCCACAAGCCCACCCGCCCACAGCCACCGCGACTTCCAGCCGGTGGTGAGTGCCCCCCCAAAGTGGGCTTGGCTCCATCTAGCCCCTCGGCTCTCGGCAGCAGAAGAGGGCCCAGCCCCTGCAGAGCTGCTGGGGGTCCCAGGCTTCGGCCATGGGTGGGGGTCTGGCGGCTCAGGGCCACTCAGGGCGGCTTGGCTGGCCCTGGGACTTGCCCTCTGGTGGCCAAGCAGTGGTCATGAAAGTCCAGCCGCTGTCACATCCTTGAGGAACCGGCGTACCTCCGCCTACAGCGGCAGCTGGGGGCACCCACGTGGCCCGGGGCTGCTCTGACCTGGCAGCGTATGGGGGCTGCTGCCTGGGCCCCTCAGTGTGTCACTTGCGCGCCTCCCGCTCAGCGCCCCTCGGCCGTGCCTGTCCACACAGGTGCGGGGCCGGGGTGGTGCGCCCGGGGCCTGGGTGCAGGGGGCAGCGTGGGACACAGCCCGTGACGCGCCCCTCTCCCCGCAGCTCCACCTGGTTGCGCTCAACAGCCCCCTGTCAGGCGGCATGCGGGGCATCCGCGGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGGCCGTGGGGCTGGCGGGCACCTTCCGCGCCTTCCTGTCCTCGCGCCTGCAGGACCTGTACAGCATCGTGCGCCGTGCCGACCGCGCAGCCGTGCCCATCGTCAACCTCAAGGTGGGTCAGTCCAGTCCTGAGGGCGCGGGCTCCTCGGCCCCCACTTGACCTCTGGGGTGAACTCCCAGCGGGGAGCTCCCCTCTAGGGCCTCTGGAGGCCACCATGTTACAGACACTGGCGCCTAGGCTGGCGACTTCAGGGCAGGCTCCGGGTGGGTCACACCCCTCCAGGCTCAGGCCAGGCCTCTGCATCCCTGGGCACTGCCACGTCCCCCAGGGCATCCCATGAGGCCCCCCCGTGGCCCCCTGACCCCCCGCTCCCCCGGCAGTGCCCCTCAGAGGGTCCCATGCTGCTGGACCAAGTGTCCACACAGGTGATAGGGCTCACATACAAGCCTGGAATCAGGAACCGTCCTTTGGGCCTCTAGTGCCATGCGGGCTGGTGGCCCCTCTGCCACAGCACCCATGTGGCTTTATTCTGTGGCCCCTTTTCGTGCACTGGGCTGTGGCTTCTGGGTGCCCCGGGGAGCACCCACATTCCCCAGAACCAACAGCAGAGGGGTCAGAGACCCAGGGCTGGGAGCAGGCGGCTGTGGCCTGGCGTTAGGGGACAGGGTCCCCTGCCTTAGCCAAGGCCTCTTGGGGTCTGCAGAGGCTGCCTGGCCAGGCCTGGCTCCCCCACGCTTGTTCCCTGGCAGGACATGCCCAGGGGCTGCAGAACCCCACCCCCCAAAAAAACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCCCACACACCACACACACATACACACGGTTTCTCTTCCAGGACGAGCTGCTGTTTCCCAGCTGGGAGGCTCTGTTCTCAGGCTCTGAGGGTCCGCTGAAGCCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCCTGAGGCACCCCACCTGGTAGGTTCCCAGTGCCGTGTGAGCAGCTCTGAGAGCCCCAGCCAGGGAAGGCGGGCGGGCGGGCTCCTATCTGCAGTTTCCCCCCGAGTTTTTGGACAAATCTTATACATGCTCATTACTTTAAAATTACAAAATCCAAAAGAGCATTGAGAAAAATGAGAACTGCTCTGAGAAGTCATCATTAGCAATGCGTTTGAGAGCCAGGTAGTTGTAAGAAGGCCCCGAAGGTGCCCCCGGCCCTCTGCTCATGGCGGATAGACTCCATGTCTCCCGGATGTCACCAAGCCTGTGGTCAGCCATGTAAGCAGCGCAGCGAGTTTATTCACCGAGAATAAACTCCTCAAAGGGCAACACGGAGTCCGAGCATGTGTGCCCTTAAAATGTTGACAGAAATTTCCAGGGTATCTAGAAGAACGCTTCGTCCCAAATGTCGCTGTGCCCTCCCCACGTGAGCGCCGCGATTCTTCCAACACTCATGCATTTAGGGGTGTCTCGGGGTGCCACACAGCGTGTCCCCAGCAGTGCCTGGCCATCTGCTGTAACGGAGATGCACCTGCCAAGGGTCTCTGACAGGAGTGCTGTGGGCAGGGCTGGGCCCCAGGGAAGGCCTGAAAGCCAGGAGCCCGGGAGGCGGAGCTGGTTCCTAGCGAGGCAGCCACAGGAAGCCTCTGCTCAGCAGGCATGAGGGCCAGGTTCACCCAGCCAGGCCAAGCCCTGGCCCCTCTCCCCTCTGCCGTGGGTGTGTCTGGCAGAAGCAGCATGGGGGGCAGTCTGGGAGATGCAGCCCCCTCCACAGGCAGCCAGCAGGGAGGCCATGTGGCCCTCCAGGTTGTGGGAGCCTCTGCAGCCCCCTGGTAACCCCAGGGCTGGCCTCCTGCCTCCACCTTTCCTGCCCGGGGAGCGGCCTCTGC
|
TAGGTAGATGGGGAGGTGGATGGATGAGTAGATGGTGGACAGGTGGGTGAGTGGATGGATGGTGGTCAGGCGGGTGAGTGGACGGGTGGGTGGGTGGATGGAAAGGTGGGTGAGTGGATAGGTAGGTAGCTGGGGAGATGGATGGATGGTGGACAGGTGGGTGAGTGTATGAATGGGTGGGTGGATAGTGGGTAAGTGGGTGAGTGGATGGTGGACAGGTGGGTGAGTGGATGGGTAGGTAGATGGGGAGGTGGATGGGTGGTTGCTGGACAGGTGGGTGAGTGGATAGATGGGCAGATGGATGGTGGACAAGTGGGTGAGTGGATGGGTGGATGGATGGTGGGCAGATGGATGGTGGATAGGTAGATGAGTGGATGAATGGGTGGATGGATGGTGGGTAAGTGGGTGAGTGGATGGGTGGATGGACAGGTGGGTGAGTGGATGGGTGGGTGGATGGATGGTGGGTAAGTGGGTTAGTGGATGGGTGGGTGGATGGATGGGTAGAAATATTTTCGTTTTCCTAAGTGTTGCGTCCAGCTGCTGTCGGCCCCTCCTTGAGTAGAGGTCATGATTCCTTAATTGGCTCAGGAGTGAGGCCTGATGTGGAGCAGTGTCAGGGGCTCCACAGCGGCCTGTCTCCTCACAGGGTTCAGCCCAGTCTGCTCTCACTCATTTGCTGATTCATTCTTTCATTCAGCCAGTCAATAGTCATGGCCCCTCCTGTGTGCCGGGTGGCCATGGATATTGCCCTGGGTAACACACAGCCTGGCCCTGTGGAGCAGACAGTGGGGACAGCCATGTGGACAGGGTGCAGGTGGATGGCAATGGCAGCTGGGTCAGGAGGGGCTGAGGGCCGTGGGGAAAGGTGCAGAATCAATAGGGGCATCCGGACTGGGGTGCAGGCCTGGGGGCTGGGATTTCTAGGGTGGAGGTCACCTCTGAGGGAGACAGAGCAAGGCCCTGGGAGATTAGAAGGTCGAAGGTCGCCGTGTTGAGGTCAGGGGCCCTGAATTGGAGCCGCGGCAAAGGAGAGGGCAGGTCAGGGCACGTGGTGAGTGATTGCTGCGGCTTCTGAGCACGGCTGGGTCTGTGGGGCCTGAGCAGAGGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGACATCCTGGCCAGCCCCCCTCGCCTGCCCGAGCCCCAGCCCTACCCCGGAGCCCCGCACCACAGCTCCTACGTGCACCTGCGGCCGGCGCGACCCACAAGCCCACCCGCCCACAGCCACCGCGACTTCCAGCCGGTGGTGAGTGCCCCCCCAAAGTGGGCTTGGCTCCATCTAGCCCCTCGGCTCTCGGCAGCAGAAGAGGGCCCAGCCCCTGCAGAGCTGCTGGGGGTCCCAGGCTTCGGCCATGGGTGGGGGTCTGGCGGCTCAGGGCCACTCAGGGCGGCTTGGCTGGCCCTGGGACTTGCCCTCTGGTGGCCAAGCAGTGGTCATGAAAGTCCAGCCGCTGTCACATCCTTGAGGAACCGGCGTACCTCCGCCTACAGCGGCAGCTGGGGGCACCCACGTGGCCCGGGGCTGCTCTGACCTGGCAGCGTATGGGGGCTGCTGCCTGGGCCCCTCAGTGTGTCACTTGCGCGCCTCCCGCTCAGCGCCCCTCGGCCGTGCCTGTCCACACAGGTGCGGGGCCGGGGTGGTGCGCCCGGGGCCTGGGTGCAGGGGGCAGCGTGGGACACAGCCCGTGACGCGCCCCTCTCCCCGCAGCTCCACCTGGTTGCGCTCAACAGCCCCGTCAGGCGGCATGCGGGGCATCCGCGGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGGCCGTGGGGCTGGCGGGCACCTTCCGCGCCTTCCTGTCCTCGCGCCTGCAGGACCTGTACAGCATCGTGCGCCGTGCCGACCGCGCAGCCGTGCCCATCGTCAACCTCAAGGTGGGTCAGTCCAGTCCTGAGGGCGCGGGCTCCTCGGCCCCCACTTGACCTCTGGGGTGAACTCCCAGCGGGGAGCTCCCCTCTAGGGCCTCTGGAGGCCACCATGTTACAGACACTGGCGCCTAGGCTGGCGACTTCAGGGCAGGCTCCGGGTGGGTCACACCCCTCCAGGCTCAGGCCAGGCCTCTGCATCCCTGGGCACTGCCACGTCCCCCAGGGCATCCCATGAGGCCCCCCCGTGGCCCCCTGACCCCCCGCTCCCCCGGCAGTGCCCCTCAGAGGGTCCCATGCTGCTGGACCAAGTGTCCACACAGGTGATAGGGCTCACATACAAGCCTGGAATCAGGAACCGTCCTTTGGGCCTCTAGTGCCATGCGGGCTGGTGGCCCCTCTGCCACAGCACCCATGTGGCTTTATTCTGTGGCCCCTTTTCGTGCACTGGGCTGTGGCTTCTGGGTGCCCCGGGGAGCACCCACATTCCCCAGAACCAACAGCAGAGGGGTCAGAGACCCAGGGCTGGGAGCAGGCGGCTGTGGCCTGGCGTTAGGGGACAGGGTCCCCTGCCTTAGCCAAGGCCTCTTGGGGTCTGCAGAGGCTGCCTGGCCAGGCCTGGCTCCCCCACGCTTGTTCCCTGGCAGGACATGCCCAGGGGCTGCAGAACCCCACCCCCCAAAAAAACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCCCACACACCACACACACATACACACGGTTTCTCTTCCAGGACGAGCTGCTGTTTCCCAGCTGGGAGGCTCTGTTCTCAGGCTCTGAGGGTCCGCTGAAGCCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCCTGAGGCACCCCACCTGGTAGGTTCCCAGTGCCGTGTGAGCAGCTCTGAGAGCCCCAGCCAGGGAAGGCGGGCGGGCGGGCTCCTATCTGCAGTTTCCCCCCGAGTTTTTGGACAAATCTTATACATGCTCATTACTTTAAAATTACAAAATCCAAAAGAGCATTGAGAAAAATGAGAACTGCTCTGAGAAGTCATCATTAGCAATGCGTTTGAGAGCCAGGTAGTTGTAAGAAGGCCCCGAAGGTGCCCCCGGCCCTCTGCTCATGGCGGATAGACTCCATGTCTCCCGGATGTCACCAAGCCTGTGGTCAGCCATGTAAGCAGCGCAGCGAGTTTATTCACCGAGAATAAACTCCTCAAAGGGCAACACGGAGTCCGAGCATGTGTGCCCTTAAAATGTTGACAGAAATTTCCAGGGTATCTAGAAGAACGCTTCGTCCCAAATGTCGCTGTGCCCTCCCCACGTGAGCGCCGCGATTCTTCCAACACTCATGCATTTAGGGGTGTCTCGGGGTGCCACACAGCGTGTCCCCAGCAGTGCCTGGCCATCTGCTGTAACGGAGATGCACCTGCCAAGGGTCTCTGACAGGAGTGCTGTGGGCAGGGCTGGGCCCCAGGGAAGGCCTGAAAGCCAGGAGCCCGGGAGGCGGAGCTGGTTCCTAGCGAGGCAGCCACAGGAAGCCTCTGCTCAGCAGGCATGAGGGCCAGGTTCACCCAGCCAGGCCAAGCCCTGGCCCCTCTCCCCTCTGCCGTGGGTGTGTCTGGCAGAAGCAGCATGGGGGGCAGTCTGGGAGATGCAGCCCCCTCCACAGGCAGCCAGCAGGGAGGCCATGTGGCCCTCCAGGTTGTGGGAGCCTCTGCAGCCCCCTGGTAACCCCAGGGCTGGCCTCCTGCCTCCACCTTTCCTGCCCGGGGAGCGGCCTCTGCNN
|
pathogenic
| 320,513 |
Located at chromosome 21 position 45511090, the variant affecting gene SLC19A1—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
GGGGCCCTGAATTGGAGCCGCGGCAAAGGAGAGGGCAGGTCAGGGCACGTGGTGAGTGATTGCTGCGGCTTCTGAGCACGGCTGGGTCTGTGGGGCCTGAGCAGAGGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGACATCCTGGCCAGCCCCCCTCGCCTGCCCGAGCCCCAGCCCTACCCCGGAGCCCCGCACCACAGCTCCTACGTGCACCTGCGGCCGGCGCGACCCACAAGCCCACCCGCCCACAGCCACCGCGACTTCCAGCCGGTGGTGAGTGCCCCCCCAAAGTGGGCTTGGCTCCATCTAGCCCCTCGGCTCTCGGCAGCAGAAGAGGGCCCAGCCCCTGCAGAGCTGCTGGGGGTCCCAGGCTTCGGCCATGGGTGGGGGTCTGGCGGCTCAGGGCCACTCAGGGCGGCTTGGCTGGCCCTGGGACTTGCCCTCTGGTGGCCAAGCAGTGGTCATGAAAGTCCAGCCGCTGTCACATCCTTGAGGAACCGGCGTACCTCCGCCTACAGCGGCAGCTGGGGGCACCCACGTGGCCCGGGGCTGCTCTGACCTGGCAGCGTATGGGGGCTGCTGCCTGGGCCCCTCAGTGTGTCACTTGCGCGCCTCCCGCTCAGCGCCCCTCGGCCGTGCCTGTCCACACAGGTGCGGGGCCGGGGTGGTGCGCCCGGGGCCTGGGTGCAGGGGGCAGCGTGGGACACAGCCCGTGACGCGCCCCTCTCCCCGCAGCTCCACCTGGTTGCGCTCAACAGCCCCCTGTCAGGCGGCATGCGGGGCATCCGCGGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGGCCGTGGGGCTGGCGGGCACCTTCCGCGCCTTCCTGTCCTCGCGCCTGCAGGACCTGTACAGCATCGTGCGCCGTGCCGACCGCGCAGCCGTGCCCATCGTCAACCTCAAGGTGGGTCAGTCCAGTCCTGAGGGCGCGGGCTCCTCGGCCCCCACTTGACCTCTGGGGTGAACTCCCAGCGGGGAGCTCCCCTCTAGGGCCTCTGGAGGCCACCATGTTACAGACACTGGCGCCTAGGCTGGCGACTTCAGGGCAGGCTCCGGGTGGGTCACACCCCTCCAGGCTCAGGCCAGGCCTCTGCATCCCTGGGCACTGCCACGTCCCCCAGGGCATCCCATGAGGCCCCCCCGTGGCCCCCTGACCCCCCGCTCCCCCGGCAGTGCCCCTCAGAGGGTCCCATGCTGCTGGACCAAGTGTCCACACAGGTGATAGGGCTCACATACAAGCCTGGAATCAGGAACCGTCCTTTGGGCCTCTAGTGCCATGCGGGCTGGTGGCCCCTCTGCCACAGCACCCATGTGGCTTTATTCTGTGGCCCCTTTTCGTGCACTGGGCTGTGGCTTCTGGGTGCCCCGGGGAGCACCCACATTCCCCAGAACCAACAGCAGAGGGGTCAGAGACCCAGGGCTGGGAGCAGGCGGCTGTGGCCTGGCGTTAGGGGACAGGGTCCCCTGCCTTAGCCAAGGCCTCTTGGGGTCTGCAGAGGCTGCCTGGCCAGGCCTGGCTCCCCCACGCTTGTTCCCTGGCAGGACATGCCCAGGGGCTGCAGAACCCCACCCCCCAAAAAAACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCCCACACACCACACACACATACACACGGTTTCTCTTCCAGGACGAGCTGCTGTTTCCCAGCTGGGAGGCTCTGTTCTCAGGCTCTGAGGGTCCGCTGAAGCCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCCTGAGGCACCCCACCTGGTAGGTTCCCAGTGCCGTGTGAGCAGCTCTGAGAGCCCCAGCCAGGGAAGGCGGGCGGGCGGGCTCCTATCTGCAGTTTCCCCCCGAGTTTTTGGACAAATCTTATACATGCTCATTACTTTAAAATTACAAAATCCAAAAGAGCATTGAGAAAAATGAGAACTGCTCTGAGAAGTCATCATTAGCAATGCGTTTGAGAGCCAGGTAGTTGTAAGAAGGCCCCGAAGGTGCCCCCGGCCCTCTGCTCATGGCGGATAGACTCCATGTCTCCCGGATGTCACCAAGCCTGTGGTCAGCCATGTAAGCAGCGCAGCGAGTTTATTCACCGAGAATAAACTCCTCAAAGGGCAACACGGAGTCCGAGCATGTGTGCCCTTAAAATGTTGACAGAAATTTCCAGGGTATCTAGAAGAACGCTTCGTCCCAAATGTCGCTGTGCCCTCCCCACGTGAGCGCCGCGATTCTTCCAACACTCATGCATTTAGGGGTGTCTCGGGGTGCCACACAGCGTGTCCCCAGCAGTGCCTGGCCATCTGCTGTAACGGAGATGCACCTGCCAAGGGTCTCTGACAGGAGTGCTGTGGGCAGGGCTGGGCCCCAGGGAAGGCCTGAAAGCCAGGAGCCCGGGAGGCGGAGCTGGTTCCTAGCGAGGCAGCCACAGGAAGCCTCTGCTCAGCAGGCATGAGGGCCAGGTTCACCCAGCCAGGCCAAGCCCTGGCCCCTCTCCCCTCTGCCGTGGGTGTGTCTGGCAGAAGCAGCATGGGGGGCAGTCTGGGAGATGCAGCCCCCTCCACAGGCAGCCAGCAGGGAGGCCATGTGGCCCTCCAGGTTGTGGGAGCCTCTGCAGCCCCCTGGTAACCCCAGGGCTGGCCTCCTGCCTCCACCTTTCCTGCCCGGGGAGCGGCCTCTGCCCTAAGCAGAGCAGGTCTGGGTTTGACTGACGGCCCGGCGCGTCTTACAGGCCCCAGAAGAGCGTGTGGCATGGCTCGGACCCCAACGGGCGCAGGCTGACCGAGAGCTACTGTGAGACGTGGCGGACGGAGGCTCCCTCGGCCACGGGCCAGGCCTCCTCGCTGCTGGGGGGCAGGCTCCTGGGGCAGAGTGCCGCGAGCTGCCATCACGCCTACATCGTGCTCTGCATTGAGAACAGCTTCATGACTGCCTCCAAGTAGCCACCGCCTGGATGCGGATGGCCGGAGAGGACCGGCGGCTCGGAGGAAGCCCCCACCGTGGGCAGGGAGCGGCCGGCCAGCCCCTGGCCCCAGGACCTGGCTGCCATACTTTCCTGTATAGTTCACGTTTCATGTAATCCTCAAGAAATAAAAGGAAGCCAAAGAGTGTATTTTTTTAAAAGTTTAAAACAGAAGCCTGATGCTGACATTCACCTGCCCCAACTCTCCCCTGACCTGTGAGCCCAGCTGGGTCAGGCAGGGTGCAGTATCATGCCCTGTGCAACCTCTTGGCCTGATCAGACCACGGCTCGATTTCTCCAGGATTTCCTGCTTTGGGAAGCCGTGCTCGCCCCAGCAGGTGCTGACTTCATCTCCCACCTAGCAGCACCGTTCTGTGCACAAAACCCAGACCTGTTAGCAGACAGGCCCCGTGAGGCAATGGGAGCTGAGGCCACACTCAGCACAAGGCCATCTGGGCTCCTCCAGGGTGTGTGCTCGCCCTGCGGTAGATGGGAGGGAGGCTCAGGTCCCTGGGGCTAGGGGGAGCCCCTTCTGCTCAGCTCTGGGCCATTCTCCACAGCAACCCCAGGCTGAAGCAGGTTCCCAAGCTCAGAGGCGCACTGTGACCCCCAGCTCCGGCCTGTCCTCCAACACCAAGCACAGCAGCCTGGGGCTGGCCTCCCAAATGAGCCATGAGATGATACATCCAAAGCAGACAGCTCCACCCTGGCCGAGTCCA
|
GGGGCCCTGAATTGGAGCCGCGGCAAAGGAGAGGGCAGGTCAGGGCACGTGGTGAGTGATTGCTGCGGCTTCTGAGCACGGCTGGGTCTGTGGGGCCTGAGCAGAGGTGACCCGCGATCCGGCGCCACGGCAGGCAGGACTCCCCACCCTTGCTGCTGCCTACACCCCCAGGGCAGCCCCAGAGTCGGGGGCGCAGCTCCCTGCTTGCCAGTTCAGAGCCCAGCCCCTCTCACCCAGCCCAGAGGAGGACACAGATGGAGGAGGGGCACCCGGAGGGTCCCCCCGCCGACAGGCCCCACGTCTCCCACCTGCAGGACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTACCCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGACATCCTGGCCAGCCCCCCTCGCCTGCCCGAGCCCCAGCCCTACCCCGGAGCCCCGCACCACAGCTCCTACGTGCACCTGCGGCCGGCGCGACCCACAAGCCCACCCGCCCACAGCCACCGCGACTTCCAGCCGGTGGTGAGTGCCCCCCCAAAGTGGGCTTGGCTCCATCTAGCCCCTCGGCTCTCGGCAGCAGAAGAGGGCCCAGCCCCTGCAGAGCTGCTGGGGGTCCCAGGCTTCGGCCATGGGTGGGGGTCTGGCGGCTCAGGGCCACTCAGGGCGGCTTGGCTGGCCCTGGGACTTGCCCTCTGGTGGCCAAGCAGTGGTCATGAAAGTCCAGCCGCTGTCACATCCTTGAGGAACCGGCGTACCTCCGCCTACAGCGGCAGCTGGGGGCACCCACGTGGCCCGGGGCTGCTCTGACCTGGCAGCGTATGGGGGCTGCTGCCTGGGCCCCTCAGTGTGTCACTTGCGCGCCTCCCGCTCAGCGCCCCTCGGCCGTGCCTGTCCACACAGGTGCGGGGCCGGGGTGGTGCGCCCGGGGCCTGGGTGCAGGGGGCAGCGTGGGACACAGCCCGTGACGCGCCCCTCTCCCCGCAGCTCCACCTGGTTGCGCTCAACAGCCCCCTGTCAGGCGGCATGCGGGGCATCCGCGGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGGCCGTGGGGCTGGCGGGCACCTTCCGCGCCTTCCTGTCCTCGCGCCTGCAGGACCTGTACAGCATCGTGCGCCGTGCCGACCGCGCAGCCGTGCCCATCGTCAACCTCAAGGTGGGTCAGTCCAGTCCTGAGGGCGCGGGCTCCTCGGCCCCCACTTGACCTCTGGGGTGAACTCCCAGCGGGGAGCTCCCCTCTAGGGCCTCTGGAGGCCACCATGTTACAGACACTGGCGCCTAGGCTGGCGACTTCAGGGCAGGCTCCGGGTGGGTCACACCCCTCCAGGCTCAGGCCAGGCCTCTGCATCCCTGGGCACTGCCACGTCCCCCAGGGCATCCCATGAGGCCCCCCCGTGGCCCCCTGACCCCCCGCTCCCCCGGCAGTGCCCCTCAGAGGGTCCCATGCTGCTGGACCAAGTGTCCACACAGGTGATAGGGCTCACATACAAGCCTGGAATCAGGAACCGTCCTTTGGGCCTCTAGTGCCATGCGGGCTGGTGGCCCCTCTGCCACAGCACCCATGTGGCTTTATTCTGTGGCCCCTTTTCGTGCACTGGGCTGTGGCTTCTGGGTGCCCCGGGGAGCACCCACATTCCCCAGAACCAACAGCAGAGGGGTCAGAGACCCAGGGCTGGGAGCAGGCGGCTGTGGCCTGGCGTTAGGGGACAGGGTCCCCTGCCTTAGCCAAGGCCTCTTGGGGTCTGCAGAGGCTGCCTGGCCAGGCCTGGCTCCCCCACGCTTGTTCCCTGGCAGGACATGCCCAGGGGCTGCAGAACCCCACCCCCCAAAAAAACACACACCCACAACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACACACCCCCCCCCCACACATCCACACCCCACATCCACACACCCCCCCACAAACACCCACACCCATCCACACCCCCACACACCACACACACATACACACACGGTTTCTCTTCCAGGACGAGCTGCTGTTTCCCAGCTGGGAGGCTCTGTTCTCAGGCTCTGAGGGTCCGCTGAAGCCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCCTGAGGCACCCCACCTGGTAGGTTCCCAGTGCCGTGTGAGCAGCTCTGAGAGCCCCAGCCAGGGAAGGCGGGCGGGCGGGCTCCTATCTGCAGTTTCCCCCCGAGTTTTTGGACAAATCTTATACATGCTCATTACTTTAAAATTACAAAATCCAAAAGAGCATTGAGAAAAATGAGAACTGCTCTGAGAAGTCATCATTAGCAATGCGTTTGAGAGCCAGGTAGTTGTAAGAAGGCCCCGAAGGTGCCCCCGGCCCTCTGCTCATGGCGGATAGACTCCATGTCTCCCGGATGTCACCAAGCCTGTGGTCAGCCATGTAAGCAGCGCAGCGAGTTTATTCACCGAGAATAAACTCCTCAAAGGGCAACACGGAGTCCGAGCATGTGTGCCCTTAAAATGTTGACAGAAATTTCCAGGGTATCTAGAAGAACGCTTCGTCCCAAATGTCGCTGTGCCCTCCCCACGTGAGCGCCGCGATTCTTCCAACACTCATGCATTTAGGGGTGTCTCGGGGTGCCACACAGCGTGTCCCCAGCAGTGCCTGGCCATCTGCTGTAACGGAGATGCACCTGCCAAGGGTCTCTGACAGGAGTGCTGTGGGCAGGGCTGGGCCCCAGGGAAGGCCTGAAAGCCAGGAGCCCGGGAGGCGGAGCTGGTTCCTAGCGAGGCAGCCACAGGAAGCCTCTGCTCAGCAGGCATGAGGGCCAGGTTCACCCAGCCAGGCCAAGCCCTGGCCCCTCTCCCCTCTGCCGTGGGTGTGTCTGGCAGAAGCAGCATGGGGGGCAGTCTGGGAGATGCAGCCCCCTCCACAGGCAGCCAGCAGGGAGGCCATGTGGCCCTCCAGGTTGTGGGAGCCTCTGCAGCCCCCTGGTAACCCCAGGGCTGGCCTCCTGCCTCCACCTTTCCTGCCCGGGGAGCGGCCTCTGCCCTAAGCAGAGCAGGTCTGGGTTTGACTGACGGCCCGGCGCGTCTTACAGGCCCCAGAAGAGCGTGTGGCATGGCTCGGACCCCAACGGGCGCAGGCTGACCGAGAGCTACTGTGAGACGTGGCGGACGGAGGCTCCCTCGGCCACGGGCCAGGCCTCCTCGCTGCTGGGGGGCAGGCTCCTGGGGCAGAGTGCCGCGAGCTGCCATCACGCCTACATCGTGCTCTGCATTGAGAACAGCTTCATGACTGCCTCCAAGTAGCCACCGCCTGGATGCGGATGGCCGGAGAGGACCGGCGGCTCGGAGGAAGCCCCCACCGTGGGCAGGGAGCGGCCGGCCAGCCCCTGGCCCCAGGACCTGGCTGCCATACTTTCCTGTATAGTTCACGTTTCATGTAATCCTCAAGAAATAAAAGGAAGCCAAAGAGTGTATTTTTTTAAAAGTTTAAAACAGAAGCCTGATGCTGACATTCACCTGCCCCAACTCTCCCCTGACCTGTGAGCCCAGCTGGGTCAGGCAGGGTGCAGTATCATGCCCTGTGCAACCTCTTGGCCTGATCAGACCACGGCTCGATTTCTCCAGGATTTCCTGCTTTGGGAAGCCGTGCTCGCCCCAGCAGGTGCTGACTTCATCTCCCACCTAGCAGCACCGTTCTGTGCACAAAACCCAGACCTGTTAGCAGACAGGCCCCGTGAGGCAATGGGAGCTGAGGCCACACTCAGCACAAGGCCATCTGGGCTCCTCCAGGGTGTGTGCTCGCCCTGCGGTAGATGGGAGGGAGGCTCAGGTCCCTGGGGCTAGGGGGAGCCCCTTCTGCTCAGCTCTGGGCCATTCTCCACAGCAACCCCAGGCTGAAGCAGGTTCCCAAGCTCAGAGGCGCACTGTGACCCCCAGCTCCGGCCTGTCCTCCAACACCAAGCACAGCAGCCTGGGGCTGGCCTCCCAAATGAGCCATGAGATGATACATCCAAAGCAGACAGCTCCACCCTGGCCGAGTC
|
benign
| 320,527 |
Clinical significance of chromosome 21, position 45981900, gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Bethlem_myopathy_1A']
|
GGTAAATTGACTGTACAGTAAGTGTACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGAGGACCACTTGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATCGTGAGACCCCCATCTCTACAAAACATACAAAATTAGCTGGGTATGGTGGCACATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAGGGATCACCTGAACCCAGGAGACTGAGGCTGCAGTGAGCTGTGATGAGGCCACTACGTTCCAGCCTGGATGACAGAGTGAGCCCCTTAGATAATAATAATAATAATAAGGAGGAGGAGGAGGAGGAGGAGGAGGAAAAGAAGGAGAAGTACTTTACAACTTCTGTAACGTAGGTGTGGGGAAAATATTGAAGGCAATCCAAAAACAGTCACTGTGGAGTTGTGGAATTAAGTATCAATTTTAAAGGTTTTTTCAAATGTTTCTTTAACATGGTTTTTGGTATGAACAATTTGTGTACGTTTTAAAATTATAAGACATTTAGGCTGGTGTTAGGCAAGTCTCAGCAGCTCCAGCTTTGGGAAAGCTCTTCTGGGACCTTCTGTGGGCCAGGGATGCATCTGGCCACATCTGGAGCCCACCCCCAGGTGATATCAGGGACAGCCCCTCTCTCCTCTCTCTGTCTCTCTTTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCCGTCTCTGTCTGTCTCTCCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTCTCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTCTCTGTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTGTCTCTCTGTCTCTGTCTTTCTGTCTCTCTCTCACTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTGTGTCTCTCTGTCTCTGTCTCTCACTGTCTCTCTCTCTGTCTCTGTCTCTCTGTCTCTCTGTCTCTCTGTGTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTCTCTCTGTCTTTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCCTCTGTCTGTGTCTCTGTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCTCTCTCACTGTCTCTCTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCCACACACAGCATATATAACAACTATATTGTGAGCAACTTTGTCTTCCCACGGTACAAACTGAAATATCTTTGGCAAATACGTATCCGACTATACTGTGAAGAAATATTGACGTGAAAAAAGAACGCGGAGATCTGATAAAGCAACAATTCAGCTCACGGCGAGGTCCTCTGCAGGAGGCGGTTGGTGGGAAGAGGCGAGTGAGCCTGCCCGTGCGTCCCGCATGGAGACGTCTGGATTGGAAACTACCGAAAGATGTTTCAAGGAACTCTCCCTGGGTGACACGCTGGTTTTCAGACGTTTGATTCAGCTGCTGCAGTTTCCTCCTCCCTGACACGGGAACTGAACTGCAGGCCGCGGCGAGCCAGCCAGGGAAACCGCCTTCTCCCTGGGCTCGGAGCTGCTGCCGGTTCTGGAGGGAGAGACCCCAGCAAGGAGGTGGTGACTCATGGGCCGCTCCTCCCCGCCCCGCCCCGCCCCTCCCCTCCCGCCCCGCCCCTCCCCTCCCGCCCCTCCCCTCTCCTCCCGCCCCTCCCCTCCCCTCCCCTCTCCTCCCGCCCCGCCCCTCCCCTCCCCTCCCGCCCCTCCCCTCCCCTCCCGCCCCTCTCGCCCCGCCCCTCCCCTCCTTGCCCTCCGCTCTCACTCTGGCTGGGAGCAGAAGGCAGCCTCGGTCTCTGGGCGGCGGCGGCGGCCCACTCTGCCCTGGCCGCGCTGTGTGGTGACCGCAGGCCCCAGACATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAGCCGGAGACCCCGAGGGCCGTGGCCTTCCAGGGTGAGTGGTGGCTTGGGGTGCAGGCTCCAGACCCCCCGCTCTTTGCTGCCGGCCAGGGCCAGATGCGCGGGGTCCCCTCCCACGCGTGGAACTGCAGACTGGGGGCCTGGAGCCCCTGAACCCCACTCCCCGCTCGGGGCGGCTGCAGCGCCCAGCTCTGCCCCACCGGGCCTTGGCCGGGGCCCCTAGAGGCTCAGCATTCAGCATTCTCAGCGGGGCCGGACCGCAGGCAGCTCGGGAGGGGCTCCCTGGCGAGGGGGAGCTGGTGCGGGGCTGTCTCGGCGCCCCGTGAATCCGTTTGACCCCTCACCTGGCAGTGAGTCCAGACGCACGGCCCCCCCGACCCCCGTTCTAGAAGAAGTCGTGCGCTGCTGGTTCTGAATCCAGCGAGAAACCTTCCCGTGAGGTCTCACTTGTCCGGTCCCGTGCCGGGGACGCCCTGCCCTTCGGGGGAGGTTGTGAAGGTTTCTGACTCCCCTCGAGGCACAGGAGCGGTTTGGGGTCTCTCACTCCACCCCCTCCCCACCGTCCCCACCGAGGGACGTCCTGCTGCCTTTTCCCGGGAGAGCCTCTCCGGGCCCGGGGCTCTGTGCTGCAGGCGCTGGGCTGGCCGGGAGGGCAGGCCCAGCAGAGACTCGGGGAATGGGGCGAGAGCTTGAAGGCCCCTCTCCTCCATCTTCGGCCAGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGACAAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTAGGAGGGACGCCCCGTGACCTTCCTCCTGTGCTTCTGGGCCTCTTGGAGGGAGGGGTGGGGGCCCAGGGGAACACGGGTGCGACGGCCTCAACCTCCTAAGGTTGGGCGAGCGTTGCCCTGACCGGGGCCCCTCCCGGCGCCCTCCAGAGTGAGGCCGGGGCCCTTTCCGGCGCCCTCCAGAGTGAGCTGGTCTGAGCCTCTCCCAGCGCCTTCCAGAGTGAGCTGGTTTGAGACCCTGCTCGCGGGGGTGGCACCTGTTCAGCAGGGCCGAGGTGACAGTGAGGCTGAGATGTAGGGAAGAGAGGCTCCCGCAGGCTGACCGAGAGGGCTCAGCGCACTGGCCCAGACACGCAGTCCTGCCTGGTGCGCGGGAGCCCCTCACTAACCACCTGGACCCTGGTTTGTTCCGTGGGCAGTGAGAGCCTCTACCTGGGTCCTGGATCCCACGTTCTGAAGGTCCCCGACTCGGGAGCCAGGAGGGGTGTCGCTCTGCAGCCCCAGGGCCCCCAGGCTTGGTTCTGGGCTTGGGACACGGCACCCTCTGCTCCACGTTCCTCCATCTGTGCGTGTGGCTGAGGACAGACCGGGGGGAGAGGGGAGTCGGTCCTGTGGGTGCACAGGGCCGCTGAGGGGGGGGCATGTAGAACGGGGCTCCCCCACTGAGACGGGTCCTGGCAGTGGGGACACAGCTTAGCCGGCGTAGGAACCCCCGTCCTCCTTGACCCTGCTGACTGGCCGCTGGGCCGGAGCCTCCCGCCACCAGAAGGGGCACAGTCAGAGGCTGCCGGTAACAGCAGGGTGGACCTTCCAGCCCACACCGTGCCCAGCAGGAGCCATTGGTACCAGGAACCCTGAGCTTAGTGGACATGGCCAGGCCCGTGCGGCAGTGTTTGGGGGGGGGTCTGGCTGTGGATGGCACCGGGGAGGGGCGGCCGCGTGGCCCAGCGTCCCCCGAGTCGCCCTTGTTGCCTTTACTCAGTCTCCCCATGACTCAGTTTCCCACCTGTGAAATGGGGCGGAGTCATCCCCATGTCGCTGCCACTGGATTCCTGCAGGCGCCGTGGTCACTCTGCTGAATGGATGGGAGGGTGGGTGGGGCAGAGGTGGGCCCACCCCAGGCTGGGGCAGAGCAGACCCCTGAGAGCCTCAGGCTCAGGTGCTCAGAGGGCAGCGAGGGGGCT
|
GGTAAATTGACTGTACAGTAAGTGTACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGAGGACCACTTGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATCGTGAGACCCCCATCTCTACAAAACATACAAAATTAGCTGGGTATGGTGGCACATGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGAGGGATCACCTGAACCCAGGAGACTGAGGCTGCAGTGAGCTGTGATGAGGCCACTACGTTCCAGCCTGGATGACAGAGTGAGCCCCTTAGATAATAATAATAATAATAAGGAGGAGGAGGAGGAGGAGGAGGAGGAAAAGAAGGAGAAGTACTTTACAACTTCTGTAACGTAGGTGTGGGGAAAATATTGAAGGCAATCCAAAAACAGTCACTGTGGAGTTGTGGAATTAAGTATCAATTTTAAAGGTTTTTTCAAATGTTTCTTTAACATGGTTTTTGGTATGAACAATTTGTGTACGTTTTAAAATTATAAGACATTTAGGCTGGTGTTAGGCAAGTCTCAGCAGCTCCAGCTTTGGGAAAGCTCTTCTGGGACCTTCTGTGGGCCAGGGATGCATCTGGCCACATCTGGAGCCCACCCCCAGGTGATATCAGGGACAGCCCCTCTCTCCTCTCTCTGTCTCTCTTTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCCGTCTCTGTCTGTCTCTCCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTCTCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTCTCTGTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTGTCTCTCTGTCTCTGTCTTTCTGTCTCTCTCTCACTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTGTGTCTCTCTGTCTCTGTCTCTCACTGTCTCTCTCTCTGTCTCTGTCTCTCTGTCTCTCTGTCTCTCTGTGTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTCTCTCTGTCTTTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCCTCTGTCTGTGTCTCTGTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCTCTCTCACTGTCTCTCTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCCACACACAGCATATATAACAACTATATTGTGAGCAACTTTGTCTTCCCACGGTACAAACTGAAATATCTTTGGCAAATACGTATCCGACTATACTGTGAAGAAATATTGACGTGAAAAAAGAACGCGGAGATCTGATAAAGCAACAATTCAGCTCACGGCGAGGTCCTCTGCAGGAGGCGGTTGGTGGGAAGAGGCGAGTGAGCCTGCCCGTGCGTCCCGCATGGAGACGTCTGGATTGGAAACTACCGAAAGATGTTTCAAGGAACTCTCCCTGGGTGACACGCTGGTTTTCAGACGTTTGATTCAGCTGCTGCAGTTTCCTCCTCCCTGACACGGGAACTGAACTGCAGGCCGCGGCGAGCCAGCCAGGGAAACCGCCTTCTCCCTGGGCTCGGAGCTGCTGCCGGTTCTGGAGGGAGAGACCCCAGCAAGGAGGTGGTGACTCATGGGCCGCTCCTCCCCGCCCCGCCCCGCCCCTCCCCTCCCGCCCCGCCCCTCCCCTCCCGCCCCTCCCCTCTCCTCCCGCCCCTCCCCTCCCCTCCCCTCTCCTCCCGCCCCGCCCCTCCCCTCCCCTCCCGCCCCTCCCCTCCCCTCCCGCCCCTCTCGCCCCGCCCCTCCCCTCCTTGCCCTCCGCTCTCACTCTGGCTGGGAGCAGAAGGCAGCCTCGGTCTCTGGGCGGCGGCGGCGGCCCACTCTGCCCTGGCCGCGCTGTGTGGTGACCGCAGGCCCCAGACATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAGCCGCGCAGGATGAGCCGGAGACCCCGAGGGCCGTGGCCTTCCAGGGTGAGTGGTGGCTTGGGGTGCAGGCTCCAGACCCCCCGCTCTTTGCTGCCGGCCAGGGCCAGATGCGCGGGGTCCCCTCCCACGCGTGGAACTGCAGACTGGGGGCCTGGAGCCCCTGAACCCCACTCCCCGCTCGGGGCGGCTGCAGCGCCCAGCTCTGCCCCACCGGGCCTTGGCCGGGGCCCCTAGAGGCTCAGCATTCAGCATTCTCAGCGGGGCCGGACCGCAGGCAGCTCGGGAGGGGCTCCCTGGCGAGGGGGAGCTGGTGCGGGGCTGTCTCGGCGCCCCGTGAATCCGTTTGACCCCTCACCTGGCAGTGAGTCCAGACGCACGGCCCCCCCGACCCCCGTTCTAGAAGAAGTCGTGCGCTGCTGGTTCTGAATCCAGCGAGAAACCTTCCCGTGAGGTCTCACTTGTCCGGTCCCGTGCCGGGGACGCCCTGCCCTTCGGGGGAGGTTGTGAAGGTTTCTGACTCCCCTCGAGGCACAGGAGCGGTTTGGGGTCTCTCACTCCACCCCCTCCCCACCGTCCCCACCGAGGGACGTCCTGCTGCCTTTTCCCGGGAGAGCCTCTCCGGGCCCGGGGCTCTGTGCTGCAGGCGCTGGGCTGGCCGGGAGGGCAGGCCCAGCAGAGACTCGGGGAATGGGGCGAGAGCTTGAAGGCCCCTCTCCTCCATCTTCGGCCAGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGACAAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTAGGAGGGACGCCCCGTGACCTTCCTCCTGTGCTTCTGGGCCTCTTGGAGGGAGGGGTGGGGGCCCAGGGGAACACGGGTGCGACGGCCTCAACCTCCTAAGGTTGGGCGAGCGTTGCCCTGACCGGGGCCCCTCCCGGCGCCCTCCAGAGTGAGGCCGGGGCCCTTTCCGGCGCCCTCCAGAGTGAGCTGGTCTGAGCCTCTCCCAGCGCCTTCCAGAGTGAGCTGGTTTGAGACCCTGCTCGCGGGGGTGGCACCTGTTCAGCAGGGCCGAGGTGACAGTGAGGCTGAGATGTAGGGAAGAGAGGCTCCCGCAGGCTGACCGAGAGGGCTCAGCGCACTGGCCCAGACACGCAGTCCTGCCTGGTGCGCGGGAGCCCCTCACTAACCACCTGGACCCTGGTTTGTTCCGTGGGCAGTGAGAGCCTCTACCTGGGTCCTGGATCCCACGTTCTGAAGGTCCCCGACTCGGGAGCCAGGAGGGGTGTCGCTCTGCAGCCCCAGGGCCCCCAGGCTTGGTTCTGGGCTTGGGACACGGCACCCTCTGCTCCACGTTCCTCCATCTGTGCGTGTGGCTGAGGACAGACCGGGGGGAGAGGGGAGTCGGTCCTGTGGGTGCACAGGGCCGCTGAGGGGGGGGCATGTAGAACGGGGCTCCCCCACTGAGACGGGTCCTGGCAGTGGGGACACAGCTTAGCCGGCGTAGGAACCCCCGTCCTCCTTGACCCTGCTGACTGGCCGCTGGGCCGGAGCCTCCCGCCACCAGAAGGGGCACAGTCAGAGGCTGCCGGTAACAGCAGGGTGGACCTTCCAGCCCACACCGTGCCCAGCAGGAGCCATTGGTACCAGGAACCCTGAGCTTAGTGGACATGGCCAGGCCCGTGCGGCAGTGTTTGGGGGGGGGTCTGGCTGTGGATGGCACCGGGGAGGGGCGGCCGCGTGGCCCAGCGTCCCCCGAGTCGCCCTTGTTGCCTTTACTCAGTCTCCCCATGACTCAGTTTCCCACCTGTGAAATGGGGCGGAGTCATCCCCATGTCGCTGCCACTGGATTCCTGCAGGCGCCGTGGTCACTCTGCTGAATGGATGGGAGGGTGGGTGGGGCAGAGGTGGGCCCACCCCAGGCTGGGGCAGAGCAGACCCCTGAGAGCCTCAGGCTCAGGTGCTCAGAGG
|
pathogenic
| 320,563 |
Gene mutation in COL6A1 (collagen type VI alpha 1 chain) at chromosome 21, position 45982628—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Bethlem_myopathy_1A']
|
CTCTGTCTGTCTCTCCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTCTCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTCTCTGTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTGTCTCTCTGTCTCTGTCTTTCTGTCTCTCTCTCACTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTGTGTCTCTCTGTCTCTGTCTCTCACTGTCTCTCTCTCTGTCTCTGTCTCTCTGTCTCTCTGTCTCTCTGTGTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTCTCTCTGTCTTTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCCTCTGTCTGTGTCTCTGTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCTCTCTCACTGTCTCTCTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCCACACACAGCATATATAACAACTATATTGTGAGCAACTTTGTCTTCCCACGGTACAAACTGAAATATCTTTGGCAAATACGTATCCGACTATACTGTGAAGAAATATTGACGTGAAAAAAGAACGCGGAGATCTGATAAAGCAACAATTCAGCTCACGGCGAGGTCCTCTGCAGGAGGCGGTTGGTGGGAAGAGGCGAGTGAGCCTGCCCGTGCGTCCCGCATGGAGACGTCTGGATTGGAAACTACCGAAAGATGTTTCAAGGAACTCTCCCTGGGTGACACGCTGGTTTTCAGACGTTTGATTCAGCTGCTGCAGTTTCCTCCTCCCTGACACGGGAACTGAACTGCAGGCCGCGGCGAGCCAGCCAGGGAAACCGCCTTCTCCCTGGGCTCGGAGCTGCTGCCGGTTCTGGAGGGAGAGACCCCAGCAAGGAGGTGGTGACTCATGGGCCGCTCCTCCCCGCCCCGCCCCGCCCCTCCCCTCCCGCCCCGCCCCTCCCCTCCCGCCCCTCCCCTCTCCTCCCGCCCCTCCCCTCCCCTCCCCTCTCCTCCCGCCCCGCCCCTCCCCTCCCCTCCCGCCCCTCCCCTCCCCTCCCGCCCCTCTCGCCCCGCCCCTCCCCTCCTTGCCCTCCGCTCTCACTCTGGCTGGGAGCAGAAGGCAGCCTCGGTCTCTGGGCGGCGGCGGCGGCCCACTCTGCCCTGGCCGCGCTGTGTGGTGACCGCAGGCCCCAGACATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAGCCGGAGACCCCGAGGGCCGTGGCCTTCCAGGGTGAGTGGTGGCTTGGGGTGCAGGCTCCAGACCCCCCGCTCTTTGCTGCCGGCCAGGGCCAGATGCGCGGGGTCCCCTCCCACGCGTGGAACTGCAGACTGGGGGCCTGGAGCCCCTGAACCCCACTCCCCGCTCGGGGCGGCTGCAGCGCCCAGCTCTGCCCCACCGGGCCTTGGCCGGGGCCCCTAGAGGCTCAGCATTCAGCATTCTCAGCGGGGCCGGACCGCAGGCAGCTCGGGAGGGGCTCCCTGGCGAGGGGGAGCTGGTGCGGGGCTGTCTCGGCGCCCCGTGAATCCGTTTGACCCCTCACCTGGCAGTGAGTCCAGACGCACGGCCCCCCCGACCCCCGTTCTAGAAGAAGTCGTGCGCTGCTGGTTCTGAATCCAGCGAGAAACCTTCCCGTGAGGTCTCACTTGTCCGGTCCCGTGCCGGGGACGCCCTGCCCTTCGGGGGAGGTTGTGAAGGTTTCTGACTCCCCTCGAGGCACAGGAGCGGTTTGGGGTCTCTCACTCCACCCCCTCCCCACCGTCCCCACCGAGGGACGTCCTGCTGCCTTTTCCCGGGAGAGCCTCTCCGGGCCCGGGGCTCTGTGCTGCAGGCGCTGGGCTGGCCGGGAGGGCAGGCCCAGCAGAGACTCGGGGAATGGGGCGAGAGCTTGAAGGCCCCTCTCCTCCATCTTCGGCCAGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGACAAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTAGGAGGGACGCCCCGTGACCTTCCTCCTGTGCTTCTGGGCCTCTTGGAGGGAGGGGTGGGGGCCCAGGGGAACACGGGTGCGACGGCCTCAACCTCCTAAGGTTGGGCGAGCGTTGCCCTGACCGGGGCCCCTCCCGGCGCCCTCCAGAGTGAGGCCGGGGCCCTTTCCGGCGCCCTCCAGAGTGAGCTGGTCTGAGCCTCTCCCAGCGCCTTCCAGAGTGAGCTGGTTTGAGACCCTGCTCGCGGGGGTGGCACCTGTTCAGCAGGGCCGAGGTGACAGTGAGGCTGAGATGTAGGGAAGAGAGGCTCCCGCAGGCTGACCGAGAGGGCTCAGCGCACTGGCCCAGACACGCAGTCCTGCCTGGTGCGCGGGAGCCCCTCACTAACCACCTGGACCCTGGTTTGTTCCGTGGGCAGTGAGAGCCTCTACCTGGGTCCTGGATCCCACGTTCTGAAGGTCCCCGACTCGGGAGCCAGGAGGGGTGTCGCTCTGCAGCCCCAGGGCCCCCAGGCTTGGTTCTGGGCTTGGGACACGGCACCCTCTGCTCCACGTTCCTCCATCTGTGCGTGTGGCTGAGGACAGACCGGGGGGAGAGGGGAGTCGGTCCTGTGGGTGCACAGGGCCGCTGAGGGGGGGGCATGTAGAACGGGGCTCCCCCACTGAGACGGGTCCTGGCAGTGGGGACACAGCTTAGCCGGCGTAGGAACCCCCGTCCTCCTTGACCCTGCTGACTGGCCGCTGGGCCGGAGCCTCCCGCCACCAGAAGGGGCACAGTCAGAGGCTGCCGGTAACAGCAGGGTGGACCTTCCAGCCCACACCGTGCCCAGCAGGAGCCATTGGTACCAGGAACCCTGAGCTTAGTGGACATGGCCAGGCCCGTGCGGCAGTGTTTGGGGGGGGGTCTGGCTGTGGATGGCACCGGGGAGGGGCGGCCGCGTGGCCCAGCGTCCCCCGAGTCGCCCTTGTTGCCTTTACTCAGTCTCCCCATGACTCAGTTTCCCACCTGTGAAATGGGGCGGAGTCATCCCCATGTCGCTGCCACTGGATTCCTGCAGGCGCCGTGGTCACTCTGCTGAATGGATGGGAGGGTGGGTGGGGCAGAGGTGGGCCCACCCCAGGCTGGGGCAGAGCAGACCCCTGAGAGCCTCAGGCTCAGGTGCTCAGAGGGCAGCGAGGGGGCTGCTCAGATCCCCGGGGTGCCTCCTTCCCCCACTGTCATGCTGCCCCACTGCAGGCCCAAGGACCCCACCCCAGCAGGGCCACACACTCAGGGCTCCTGGTCTGAGGGCCTGAGGGATCGGGGCGCAGGTCGCTTGCTGGCCACACCCGCCTGCACAGCCTTCCAGGAGGGCCGGCCTCAGGGCCACAGGGCAAGTCCAGCTGTGTGTCAGCCACGGCCAGGGTGGGGCAGCCTGTCCATCTGGGTGACGTCGCGCCCTGGGACGGGTAGCGATGGCGCCAGGGGCCGCCCGCCTCACGCCCGCCGTGCCTGTTCCTGGCAGGTACTACCGCTGTGACCGAAACCTGGTGTGGAACGCAGGCGCGCTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCGTGGACGCGGTCAAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTGGGGTGAGTGGCCCCCAGCCTCCTGCCCACGCCAGTTCTCACGCGTGGTACCCAGCCTGGGCTGGGGTTGGCCTGGGGTCCCTGTGCGGCTTCAGCTGCAGCCTCCCTGTTCTCTTGGAGGCTGCACGGCCTCCCTGACCCACTTTGTGGGCAGGAAAGAGACGGAGACAGACAGAGACAGAGAGAAACAGAAACAGGGAGAAACAGAC
|
CTCTGTCTGTCTCTCCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTCTCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTCTCTGTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTGTCTCTCTGTCTCTGTCTTTCTGTCTCTCTCTCACTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTGTGTCTCTCTGTCTCTGTCTCTCACTGTCTCTCTCTCTGTCTCTGTCTCTCTGTCTCTCTGTCTCTCTGTGTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCCTCTGTCTCTCTGTGTCTCTCTCTGTCTTTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCCTCTGTCTGTGTCTCTGTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCTCTCTCACTGTCTCTCTCTGTCTCTCTGTCTCTGTCTCTCTGTCTCCACACACAGCATATATAACAACTATATTGTGAGCAACTTTGTCTTCCCACGGTACAAACTGAAATATCTTTGGCAAATACGTATCCGACTATACTGTGAAGAAATATTGACGTGAAAAAAGAACGCGGAGATCTGATAAAGCAACAATTCAGCTCACGGCGAGGTCCTCTGCAGGAGGCGGTTGGTGGGAAGAGGCGAGTGAGCCTGCCCGTGCGTCCCGCATGGAGACGTCTGGATTGGAAACTACCGAAAGATGTTTCAAGGAACTCTCCCTGGGTGACACGCTGGTTTTCAGACGTTTGATTCAGCTGCTGCAGTTTCCTCCTCCCTGACACGGGAACTGAACTGCAGGCCGCGGCGAGCCAGCCAGGGAAACCGCCTTCTCCCTGGGCTCGGAGCTGCTGCCGGTTCTGGAGGGAGAGACCCCAGCAAGGAGGTGGTGACTCATGGGCCGCTCCTCCCCGCCCCGCCCCGCCCCTCCCCTCCCGCCCCGCCCCTCCCCTCCCGCCCCTCCCCTCTCCTCCCGCCCCTCCCCTCCCCTCCCCTCTCCTCCCGCCCCGCCCCTCCCCTCCCCTCCCGCCCCTCCCCTCCCCTCCCGCCCCTCTCGCCCCGCCCCTCCCCTCCTTGCCCTCCGCTCTCACTCTGGCTGGGAGCAGAAGGCAGCCTCGGTCTCTGGGCGGCGGCGGCGGCCCACTCTGCCCTGGCCGCGCTGTGTGGTGACCGCAGGCCCCAGACATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAGCCGGAGACCCCGAGGGCCGTGGCCTTCCAGGGTGAGTGGTGGCTTGGGGTGCAGGCTCCAGACCCCCCGCTCTTTGCTGCCGGCCAGGGCCAGATGCGCGGGGTCCCCTCCCACGCGTGGAACTGCAGACTGGGGGCCTGGAGCCCCTGAACCCCACTCCCCGCTCGGGGCGGCTGCAGCGCCCAGCTCTGCCCCACCGGGCCTTGGCCGGGGCCCCTAGAGGCTCAGCATTCAGCATTCTCAGCGGGGCCGGACCGCAGGCAGCTCGGGAGGGGCTCCCTGGCGAGGGGGAGCTGGTGCGGGGCTGTCTCGGCGCCCCGTGAATCCGTTTGACCCCTCACCTGGCAGTGAGTCCAGACGCACGGCCCCCCCGACCCCCGTTCTAGAAGAAGTCGTGCGCTGCTGGTTCTGAATCCAGCGAGAAACCTTCCCGTGAGGTCTCACTTGTCCGGTCCCGTGCCGGGGACGCCCTGCCCTTCGGGGGAGGTTGTGAAGGTTTCTGACTCCCCTCGAGGCACAGGAGCGGTTTGGGGTCTCTCACTCCACCCCCTCCCCACCGTCCCCACCGAGGGACGTCCTGCTGCCTTTTCCCGGGAGAGCCTCTCCGGGCCCGGGGCTCTGTGCTGCAGGCGCTGGGCTGGCCGGGAGGGCAGGCCCAGCAGAGACTCGGGGAATGGGGCGAGAGCTTGAAGGCCCCTCTCCTCCATCTTCGGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGACAAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTAGGAGGGACGCCCCGTGACCTTCCTCCTGTGCTTCTGGGCCTCTTGGAGGGAGGGGTGGGGGCCCAGGGGAACACGGGTGCGACGGCCTCAACCTCCTAAGGTTGGGCGAGCGTTGCCCTGACCGGGGCCCCTCCCGGCGCCCTCCAGAGTGAGGCCGGGGCCCTTTCCGGCGCCCTCCAGAGTGAGCTGGTCTGAGCCTCTCCCAGCGCCTTCCAGAGTGAGCTGGTTTGAGACCCTGCTCGCGGGGGTGGCACCTGTTCAGCAGGGCCGAGGTGACAGTGAGGCTGAGATGTAGGGAAGAGAGGCTCCCGCAGGCTGACCGAGAGGGCTCAGCGCACTGGCCCAGACACGCAGTCCTGCCTGGTGCGCGGGAGCCCCTCACTAACCACCTGGACCCTGGTTTGTTCCGTGGGCAGTGAGAGCCTCTACCTGGGTCCTGGATCCCACGTTCTGAAGGTCCCCGACTCGGGAGCCAGGAGGGGTGTCGCTCTGCAGCCCCAGGGCCCCCAGGCTTGGTTCTGGGCTTGGGACACGGCACCCTCTGCTCCACGTTCCTCCATCTGTGCGTGTGGCTGAGGACAGACCGGGGGGAGAGGGGAGTCGGTCCTGTGGGTGCACAGGGCCGCTGAGGGGGGGGCATGTAGAACGGGGCTCCCCCACTGAGACGGGTCCTGGCAGTGGGGACACAGCTTAGCCGGCGTAGGAACCCCCGTCCTCCTTGACCCTGCTGACTGGCCGCTGGGCCGGAGCCTCCCGCCACCAGAAGGGGCACAGTCAGAGGCTGCCGGTAACAGCAGGGTGGACCTTCCAGCCCACACCGTGCCCAGCAGGAGCCATTGGTACCAGGAACCCTGAGCTTAGTGGACATGGCCAGGCCCGTGCGGCAGTGTTTGGGGGGGGGTCTGGCTGTGGATGGCACCGGGGAGGGGCGGCCGCGTGGCCCAGCGTCCCCCGAGTCGCCCTTGTTGCCTTTACTCAGTCTCCCCATGACTCAGTTTCCCACCTGTGAAATGGGGCGGAGTCATCCCCATGTCGCTGCCACTGGATTCCTGCAGGCGCCGTGGTCACTCTGCTGAATGGATGGGAGGGTGGGTGGGGCAGAGGTGGGCCCACCCCAGGCTGGGGCAGAGCAGACCCCTGAGAGCCTCAGGCTCAGGTGCTCAGAGGGCAGCGAGGGGGCTGCTCAGATCCCCGGGGTGCCTCCTTCCCCCACTGTCATGCTGCCCCACTGCAGGCCCAAGGACCCCACCCCAGCAGGGCCACACACTCAGGGCTCCTGGTCTGAGGGCCTGAGGGATCGGGGCGCAGGTCGCTTGCTGGCCACACCCGCCTGCACAGCCTTCCAGGAGGGCCGGCCTCAGGGCCACAGGGCAAGTCCAGCTGTGTGTCAGCCACGGCCAGGGTGGGGCAGCCTGTCCATCTGGGTGACGTCGCGCCCTGGGACGGGTAGCGATGGCGCCAGGGGCCGCCCGCCTCACGCCCGCCGTGCCTGTTCCTGGCAGGTACTACCGCTGTGACCGAAACCTGGTGTGGAACGCAGGCGCGCTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCGTGGACGCGGTCAAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTGGGGTGAGTGGCCCCCAGCCTCCTGCCCACGCCAGTTCTCACGCGTGGTACCCAGCCTGGGCTGGGGTTGGCCTGGGGTCCCTGTGCGGCTTCAGCTGCAGCCTCCCTGTTCTCTTGGAGGCTGCACGGCCTCCCTGACCCACTTTGTGGGCAGGAAAGAGACGGAGACAGACAGAGACAGAGAGAAACAGAAACAGGGAGAAACAGACNNNNNNNN
|
pathogenic
| 320,565 |
Clinically, how would you classify the variant at chromosome 21, position 45986696, gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
AGAGAAACAGAAACAGGGAGAAACAGACACAGAGAGAGACAGAGACAGAGAGAGATAGAGACAGAGACAGAGAGAGACAGAGACAAAGAGTGACAGAGGGACCAAGACAGGCAGACAGAGACAAACAGAGACAGAGACAGAGACACAGAGAGAGACACAGAGAGACAGAGACGGGAACAGAGACAGGCAGACAGAGACAGAGAGAGACAGAGACAGAAACAGAGACAGAGGGACAGAGACAGGCAGAGAGAGACAGAGAGACAGAGACAGAGACAGACAAACAGAGACAGAGAGACAGAAACAGGGACAGAGACAGAAAGAGAGAGAGACAGAGGGAAACAGAGAGAGACAGAGACAGATAGAAAAAGACAGAGGCAGAGAGAAGCAGAGACAGAGAAACAAAGACAGTCAGAGACAGACAGAGACAGAGACAGAAACAGAGACAGAGAGACAGAGACAGAGGGGCAGAGACAGGCAGACAGAGAGACAGAGACAGAGACAGCGAAACAGAGACAGAAACATACAGAGACAGAGAGACAGAGAGAAGCAGAGACAGACAGAGGCAGAGAGACAGAGAGAAGCAGAGACAGGGACAGAGACAGAGACAGAAATAGAGAGATAGAGACAGAGGGACAGAGACAGAGAGATAGAGACAGAGAGGGAGACAGAGAGATAGAAGCAGAGAGAGAGAGACAAAGACAGAGGCAGAGAGACAGAGAGAGAAGCACAGACAGAGACAGACAGAGAGACAGGGACAGACAGAGACAGAGAGACCGGAAACAGAGGCAGAGAGACTGAGAGACTGAGAGAGACGGGGTGGTTTTCCCCACAGCATCAACACCAAGCAGGGCTAGGATCACTGAAACAGACTCATCAGACCCGAAGCATGCGCTTTCTCGGGGTTTTTCTGGACTGAGGGGTTTCCTCTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTGCATGGGGGATGTGGCCACACACGTCAGAGTGCGGCCCCCTGTGGAAGCCACAGACAGACACGACTCCCCTAAATGAGCTCGCCCTTCTGGCCGAGATGCTCAGCGTCCCCAGCAGGCTGCCCGACTGCCCTGCGATACTGCCCTCCTTCCTGCTGCTCCCACTTTCCCTTTCGGGGGGTTGGATTTGGGGCATTCAGGGATCGCCCTGTTGTTTGCTCATCACACCCATTTCCTGCAAGAGCCACGGTGACCGAGCAGCCTTGAGTTGAGGCAGCTTGTGGGTAGACGCGGCGGGCATCTCGGAGGGGCACGCTCCCTGCCACCCTCAGCCTCCACTCACTGGTCAGGGGCTTTGCGCCCCAGGGCACCCCAGGAACCGAGCCTCCTTTGGGGTCATGGGTGCCTCTCCTGGGAGGGCGTGGATTTTCCAAAGCAGTTTAGAGAAATGAGACCCACAGGCGTTATTTCCCATGGTGAGGTTCTTTTCAGTAACCCCCACCGTATAGCCAGGATCAGCAAAGAGAGGCGGCTCCTCCCGGTGAGACAGGGACCAGCACCTCCCGGACAGGCTTGGGTCTCCCTCCAGTTCCCCCACCTAGTCTCGAGGTCTCACGCTGCCCTCTCCTGTCCAGGGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAGCACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGTAGGCACCGGCCCCCCCCGGCAGATGCCCCCAACCACAGGGAGTGGCGGCTGCAAGGCCCCCGGCAGCTGGGACCGTCTTTTGGTCCTCGGGAGGGTGTGGGTTCTCCAGCCGGCCACCCTTGCCCCTGAGAGGCCAGCCCCTCCTGCTGAGGAGCCTGGAGCGCCCCAGCCCAGCCTCCCCTCTGGCCCTGTGGGAAGCGGCCCCGGCCGTCAGGGGTCCCAGCCCTGCTCAGCCCACCCTGAACACTGCCCCCAGGAGCCGCGTCTGAGCATCATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTC
|
AGAGAAACAGAAACAGGGAGAAACAGACACAGAGAGAGACAGAGACAGAGAGAGATAGAGACAGAGACAGAGAGAGACAGAGACAAAGAGTGACAGAGGGACCAAGACAGGCAGACAGAGACAAACAGAGACAGAGACAGAGACACAGAGAGAGACACAGAGAGACAGAGACGGGAACAGAGACAGGCAGACAGAGACAGAGAGAGACAGAGACAGAAACAGAGACAGAGGGACAGAGACAGGCAGAGAGAGACAGAGAGACAGAGACAGAGACAGACAAACAGAGACAGAGAGACAGAAACAGGGACAGAGACAGAAAGAGAGAGAGACAGAGGGAAACAGAGAGAGACAGAGACAGATAGAAAAAGACAGAGGCAGAGAGAAGCAGAGACAGAGAAACAAAGACAGTCAGAGACAGACAGAGACAGAGACAGAAACAGAGACAGAGAGACAGAGACAGAGGGGCAGAGACAGGCAGACAGAGAGACAGAGACAGAGACAGCGAAACAGAGACAGAAACATACAGAGACAGAGAGACAGAGAGAAGCAGAGACAGACAGAGGCAGAGAGACAGAGAGAAGCAGAGACAGGGACAGAGACAGAGACAGAAATAGAGAGATAGAGACAGAGGGACAGAGACAGAGAGATAGAGACAGAGAGGGAGACAGAGAGATAGAAGCAGAGAGAGAGAGACAAAGACAGAGGCAGAGAGACAGAGAGAGAAGCACAGACAGAGACAGACAGAGAGACAGGGACAGACAGAGACAGAGAGACCGGAAACAGAGGCAGAGAGACTGAGAGACTGAGAGAGACGGGGTGGTTTTCCCCACAGCATCAACACCAAGCAGGGCTAGGATCACTGAAACAGACTCATCAGACCCGAAGCATGCGCTTTCTCGGGGTTTTTCTGGACTGAGGGGTTTCCTCTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTGCATGGGGGATGTGGCCACACACGTCAGAGTGCGGCCCCCTGTGGAAGCCACAGACAGACACGACTCCCCTAAATGAGCTCGCCCTTCTGGCCGAGATGCTCAGCGTCCCCAGCAGGCTGCCCGACTGCCCTGCGATACTGCCCTCCTTCCTGCTGCTCCCACTTTCCCTTTCGGGGGGTTGGATTTGGGGCATTCAGGGATCGCCCTGTTGTTTGCTCATCACACCCATTTCCTGCAAGAGCCACGGTGACCGAGCAGCCTTGAGTTGAGGCAGCTTGTGGGTAGACGCGGCGGGCATCTCGGAGGGGCACGCTCCCTGCCACCCTCAGCCTCCACTCACTGGTCAGGGGCTTTGCGCCCCAGGGCACCCCAGGAACCGAGCCTCCTTTGGGGTCATGGGTGCCTCTCCTGGGAGGGCGTGGATTTTCCAAAGCAGTTTAGAGAAATGAGACCCACAGGCGTTATTTCCCATGGTGAGGTTCTTTTCAGTAACCCCCACCGTATAGCCAGGATCAGCAAAGAGAGGCGGCTCCTCCCGGTGAGACAGGGACCAGCACCTCCCGGACAGGCTTGGGTCTCCCTCCAGTTCCCCCACCTAGTCTCGAGGTCTCACGCTGCCCTCTCCTGTCCAGGGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAGCACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGTAGGCACCGGCCCCCCCCCGGCAGATGCCCCCAACCACAGGGAGTGGCGGCTGCAAGGCCCCCGGCAGCTGGGACCGTCTTTTGGTCCTCGGGAGGGTGTGGGTTCTCCAGCCGGCCACCCTTGCCCCTGAGAGGCCAGCCCCTCCTGCTGAGGAGCCTGGAGCGCCCCAGCCCAGCCTCCCCTCTGGCCCTGTGGGAAGCGGCCCCGGCCGTCAGGGGTCCCAGCCCTGCTCAGCCCACCCTGAACACTGCCCCCAGGAGCCGCGTCTGAGCATCATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTT
|
benign
| 320,584 |
Is the variant located on chromosome 21 at position 45987485, gene COL6A1 (collagen type VI alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
AGAGACTGAGAGACTGAGAGAGACGGGGTGGTTTTCCCCACAGCATCAACACCAAGCAGGGCTAGGATCACTGAAACAGACTCATCAGACCCGAAGCATGCGCTTTCTCGGGGTTTTTCTGGACTGAGGGGTTTCCTCTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTGCATGGGGGATGTGGCCACACACGTCAGAGTGCGGCCCCCTGTGGAAGCCACAGACAGACACGACTCCCCTAAATGAGCTCGCCCTTCTGGCCGAGATGCTCAGCGTCCCCAGCAGGCTGCCCGACTGCCCTGCGATACTGCCCTCCTTCCTGCTGCTCCCACTTTCCCTTTCGGGGGGTTGGATTTGGGGCATTCAGGGATCGCCCTGTTGTTTGCTCATCACACCCATTTCCTGCAAGAGCCACGGTGACCGAGCAGCCTTGAGTTGAGGCAGCTTGTGGGTAGACGCGGCGGGCATCTCGGAGGGGCACGCTCCCTGCCACCCTCAGCCTCCACTCACTGGTCAGGGGCTTTGCGCCCCAGGGCACCCCAGGAACCGAGCCTCCTTTGGGGTCATGGGTGCCTCTCCTGGGAGGGCGTGGATTTTCCAAAGCAGTTTAGAGAAATGAGACCCACAGGCGTTATTTCCCATGGTGAGGTTCTTTTCAGTAACCCCCACCGTATAGCCAGGATCAGCAAAGAGAGGCGGCTCCTCCCGGTGAGACAGGGACCAGCACCTCCCGGACAGGCTTGGGTCTCCCTCCAGTTCCCCCACCTAGTCTCGAGGTCTCACGCTGCCCTCTCCTGTCCAGGGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAGCACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGTAGGCACCGGCCCCCCCCGGCAGATGCCCCCAACCACAGGGAGTGGCGGCTGCAAGGCCCCCGGCAGCTGGGACCGTCTTTTGGTCCTCGGGAGGGTGTGGGTTCTCCAGCCGGCCACCCTTGCCCCTGAGAGGCCAGCCCCTCCTGCTGAGGAGCCTGGAGCGCCCCAGCCCAGCCTCCCCTCTGGCCCTGTGGGAAGCGGCCCCGGCCGTCAGGGGTCCCAGCCCTGCTCAGCCCACCCTGAACACTGCCCCCAGGAGCCGCGTCTGAGCATCATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGG
|
AGAGACTGAGAGACTGAGAGAGACGGGGTGGTTTTCCCCACAGCATCAACACCAAGCAGGGCTAGGATCACTGAAACAGACTCATCAGACCCGAAGCATGCGCTTTCTCGGGGTTTTTCTGGACTGAGGGGTTTCCTCTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTGCATGGGGGATGTGGCCACACACGTCAGAGTGCGGCCCCCTGTGGAAGCCACAGACAGACACGACTCCCCTAAATGAGCTCGCCCTTCTGGCCGAGATGCTCAGCGTCCCCAGCAGGCTGCCCGACTGCCCTGCGATACTGCCCTCCTTCCTGCTGCTCCCACTTTCCCTTTCGGGGGGTTGGATTTGGGGCATTCAGGGATCGCCCTGTTGTTTGCTCATCACACCCATTTCCTGCAAGAGCCACGGTGACCGAGCAGCCTTGAGTTGAGGCAGCTTGTGGGTAGACGCGGCGGGCATCTCGGAGGGGCACGCTCCCTGCCACCCTCAGCCTCCACTCACTGGTCAGGGGCTTTGCGCCCCAGGGCACCCCAGGAACCGAGCCTCCTTTGGGGTCATGGGTGCCTCTCCTGGGAGGGCGTGGATTTTCCAAAGCAGTTTAGAGAAATGAGACCCACAGGCGTTATTTCCCATGGTGAGGTTCTTTTCAGTAACCCCCACCGTATAGCCAGGATCAGCAAAGAGAGGCGGCTCCTCCCGGTGAGACAGGGACCAGCACCTCCCGGACAGGCTTGGGTCTCCCTCCAGTTCCCCCACCTAGTCTCGAGGTCTCACGCTGCCCTCTCCTGTCCAGGGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAGCACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGTAGGCACCGGCCCCCCCCGGCAGATGCCCCCAACCACAGGGAGTGGCGGCTGCAAGGCCCCCGGCAGCTGGGACCGTCTTTTGGTCCTCGGGAGGGTGTGGGTTCTCCAGCCGGCCACCCTTGCCCCTGAGAGGCCAGCCCCTCCTGCTGAGGAGCCTGGAGCGCCCCAGCCCAGCCTCCCCTCTGGCCCTGTGGGAAGCGGCCCCGGCCGTCAGGGGTCCCAGCCCTGCTCAGCCCACCCTGAACACTGCCCCCAGGAGCCGCGTCTGAGCATCATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGN
|
benign
| 320,593 |
Determine if the mutation at chromosome 21, position 45987622 in gene COL6A1 (collagen type VI alpha 1 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Bethlem_myopathy_1A']
|
CTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTGCATGGGGGATGTGGCCACACACGTCAGAGTGCGGCCCCCTGTGGAAGCCACAGACAGACACGACTCCCCTAAATGAGCTCGCCCTTCTGGCCGAGATGCTCAGCGTCCCCAGCAGGCTGCCCGACTGCCCTGCGATACTGCCCTCCTTCCTGCTGCTCCCACTTTCCCTTTCGGGGGGTTGGATTTGGGGCATTCAGGGATCGCCCTGTTGTTTGCTCATCACACCCATTTCCTGCAAGAGCCACGGTGACCGAGCAGCCTTGAGTTGAGGCAGCTTGTGGGTAGACGCGGCGGGCATCTCGGAGGGGCACGCTCCCTGCCACCCTCAGCCTCCACTCACTGGTCAGGGGCTTTGCGCCCCAGGGCACCCCAGGAACCGAGCCTCCTTTGGGGTCATGGGTGCCTCTCCTGGGAGGGCGTGGATTTTCCAAAGCAGTTTAGAGAAATGAGACCCACAGGCGTTATTTCCCATGGTGAGGTTCTTTTCAGTAACCCCCACCGTATAGCCAGGATCAGCAAAGAGAGGCGGCTCCTCCCGGTGAGACAGGGACCAGCACCTCCCGGACAGGCTTGGGTCTCCCTCCAGTTCCCCCACCTAGTCTCGAGGTCTCACGCTGCCCTCTCCTGTCCAGGGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAGCACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGTAGGCACCGGCCCCCCCCGGCAGATGCCCCCAACCACAGGGAGTGGCGGCTGCAAGGCCCCCGGCAGCTGGGACCGTCTTTTGGTCCTCGGGAGGGTGTGGGTTCTCCAGCCGGCCACCCTTGCCCCTGAGAGGCCAGCCCCTCCTGCTGAGGAGCCTGGAGCGCCCCAGCCCAGCCTCCCCTCTGGCCCTGTGGGAAGCGGCCCCGGCCGTCAGGGGTCCCAGCCCTGCTCAGCCCACCCTGAACACTGCCCCCAGGAGCCGCGTCTGAGCATCATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTT
|
CTCATCCCAGTGTCCAGCTGTGGGGACGCAGGGGCCGCAAGCCCCGGAGTGTCCAGAGGGGAACGTGGCCTCCCCACACCCAGCCCTTCACGAGGCCTCAGGATCCCAGTGGGGGTACCCGAGGCTGCCCTGTCCAGCCAGGCGGTGCGGGGGGTTTGGGGAGAGCCTCTCCCCGAGGTCGGTCTCAGAGGGCCACATGGCCGGTGTGGGCCGGACATTCCCTTTCCAATGGTTGTGCCCACTTCCCTCCAGAGTTGGTGCCAAGCTGGGACCTGGGGGACTTGGAGTCTCAGGAAGTCGTCCGCTGTCTGCAGGGGGTGCATGGGGGATGTGGCCACACACGTCAGAGTGCGGCCCCCTGTGGAAGCCACAGACAGACACGACTCCCCTAAATGAGCTCGCCCTTCTGGCCGAGATGCTCAGCGTCCCCAGCAGGCTGCCCGACTGCCCTGCGATACTGCCCTCCTTCCTGCTGCTCCCACTTTCCCTTTCGGGGGGTTGGATTTGGGGCATTCAGGGATCGCCCTGTTGTTTGCTCATCACACCCATTTCCTGCAAGAGCCACGGTGACCGAGCAGCCTTGAGTTGAGGCAGCTTGTGGGTAGACGCGGCGGGCATCTCGGAGGGGCACGCTCCCTGCCACCCTCAGCCTCCACTCACTGGTCAGGGGCTTTGCGCCCCAGGGCACCCCAGGAACCGAGCCTCCTTTGGGGTCATGGGTGCCTCTCCTGGGAGGGCGTGGATTTTCCAAAGCAGTTTAGAGAAATGAGACCCACAGGCGTTATTTCCCATGGTGAGGTTCTTTTCAGTAACCCCCACCGTATAGCCAGGATCAGCAAAGAGAGGCGGCTCCTCCCGGTGAGACAGGGACCAGCACCTCCCGGACAGGCTTGGGTCTCCCTCCAGTTCCCCCACCTAGTCTCGAGGTCTCACGCTGCCCTCTCCTGTCCAGGGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAGCACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGTAGGCACCGGCCCCCCCCGGCAGATGCCCCCAACCACAGGGAGTGGCGGCTGCAAGGCCCCCGGCAGCTGGGACCGTCTTTTGGTCCTCGGGAGGGTGTGGGTTCTCCAGCCGGCCACCCTTGCCCCTGAGAGGCCAGCCCCTCCTGCTGAGGAGCCTGGAGCGCCCCAGCCCAGCCTCCCCTCTGGCCCTGTGGGAAGCGGCCCCGGCCGTCAGGGGTCCCAGCCCTGCTCAGCCCACCCTGAACACTGCCCCCAGGAGCCGCGTCTGAGCATCATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGTGTCCGTCTGCCCATGTGCCTGGGTCGCATGTCACCCTGTGTCCCAGCCGTATGTCCGTGGCTTTCCCACTGACTCGTCTCCATGCTTTCCCCCCACAGTGCTGCTCCTTCGAATGCCAGGTGAGTGTGCCCCCCGACCCCTGACCCCGCGCCCTGCACCCTGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTNNNNNNNN
|
pathogenic
| 320,596 |
Chromosome 21, position 45989773, gene COL6A1 (collagen type VI alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Bethlem_myopathy_1A', 'Ullrich_congenital_muscular_dystrophy_1A']
|
CTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGT
|
CTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTNNN
|
pathogenic
| 320,632 |
Variant in COL6A1 (collagen type VI alpha 1 chain), chromosome 21, position 45990283—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Bethlem_myopathy_1A']
|
GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGA
|
GGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTGAGGGTGTCTCTGTCCGCCCTGCCCTCAGCCGCACTCTGTTCAGAAGGACCTTTCTGGAGGTAGGAGGGTGAGAATGTGGGTCCCCTGCTTCTGTGTGGCTCACATAGGATGACCTTAAACGTTAGAATTAGCTGCTGATAATTAAAACTTGCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAATGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGANNNNNNNN
|
pathogenic
| 320,644 |
Evaluate the clinical significance of the mutation at chromosome 21, position 45990754 in gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
GCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGA
|
GCCATGAGGCTGCTCATGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAN
|
benign
| 320,662 |
Gene COL6A1 (collagen type VI alpha 1 chain) variant at chromosome position 45990770 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Bethlem_myopathy_1A']
|
TGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTC
|
TGGACCTCAGATTTCTGGCTTCTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCN
|
pathogenic
| 320,663 |
A genetic variant at chromosome 21, position 45990826, affecting gene COL6A1 (collagen type VI alpha 1 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Bethlem_myopathy_1A']
|
CGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACCACCCCAGGAAGGGGCAGGCGGAGGCTGGGGCTGG
|
CGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACCACCCCAGGAAGGGGCAGGCGGAGGCTGGGGCTGGN
|
pathogenic
| 320,670 |
Gene mutation in COL6A1 (collagen type VI alpha 1 chain) at chromosome 21, position 45991056—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
TTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACCACCCCAGGAAGGGGCAGGCGGAGGCTGGGGCTGGGTCAGGCCTCCAGAGCCACAGGACACATCATGAAGCCCCTGTGGCCCCTCAACGTGGCCAGCCCATCCCCACGCCGTCAGGGAGGGCAGCCCCTGAAGCCGGCGCCCAGCCATGTGCCTGATGCTGGGACCTGTTTCATGTGAAGGCGTTGCCCGTGGACCCGGTGCCCACTTTCCCACCAGGCGGCTTCCACGTTTCTGCATCCGAGCTTGGGTTCTTCTTTGGAATAA
|
TTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGACTAGGCCTCGGAAACTTCCGGAAGAGTGGCTGGGTTCTGAGTGCCAAAGTCACACTGCCTGTTCCTTGTGGGTGGGAGCAGACCTGGAGGGGCCACAGCCCAGCCATCCTTCCACACAGCCCCCCAGGCAGCCCGTAAGCCCCCCTGCCAGGGAGGGGCTGGGTGGGGAGGTGGCCCAGGGTGCTCAGGCCGGCACCGTCCGGGGCCCCTGCCGTGGCTCCTTGGCCCAAATCCTATCCATAGACTTCCCTCCCCCAGCTCCACCTTGGAGGGCCTCGGCACCATGGGCCCCGTGCAGCAGGGCCCCTCTCTCGGCCTGACCAGGCCTGGGCTGGAGGGAGGGGTGTGGGGCTGGGTGGGACTGGCCCCTGCCCCTGCTCCTCCGGGGGTGTCTCACCATCTCCTCCTGTGTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGTACGTGCCCCCCCTTTCCTGGCCCGAGCCCGGTGGTGCCCTCAGCCTTGCACAGCACTAACAAGCCTTCCTCTTCCTCTTCTTCCGCTGGGTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGTGAGGCTCGACCTCGGAGCTGGTCTCTCCAGGCGCAGATGTGCCATCCTGGACGAGGGTGTCCCCGGGGATGAGGACAGTGTCCCTGACAGGAGACCACGTGTCCTGCAGACCCGCTCCACCGCCCCTCGCCGTCCCCTCCATCTGGAAGGACAAGGACAGCCACCCAGGCACCCAGCAAAGGCGCCTGTGTCACTTTCACCCCACCCCAGAGCAGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCAGAGCGGCCCCTCCCCATCACTGTCAGTCCCCATGATTCTCAGCAGTGATGTTGTCCCCTCGGGTTGGGGGCACCCAAGCCCCTGCCTCGCGTGGGCCTAAGCCAGGCTTGCCCTGCCCTCCCCACCCCAAATACCCCCTCACACCCGCTTCCTGTCTCCGCAGGGCTCCAGGGGACCCAAGGGCTACAAGGTGAGCGTGGGCTGCTGGGAGGGGGGAGTTCTGCCCCCACGGCAGCATGTCTGACCTGCATCTGACTCCTGCCTTCGTTTTCCCGCCTCACAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACGGTGTGAAGGTGACCCCAGGGGGGTGTCTGCTAGGCAGGGCTTTCCAGGGAGGGTGTGGAGGGCATGGAGGGCACCAAGTCTGACAGTTGATTGGCCTCAGTTTACCCACTTGGCCGTCAGATTTTCTAGTTTTCTTCCTCTTTCCAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGTAAGTCACTTCCTCTCACTGATACTTTAAAACTAGCGCTGTCAGCAGCACCTCGTGTGGACCGTTTTGACTTCTGTCTGGGCGGTCTGGGGCTGCTGCCAGAGGCCGCGGTGGCCTCTGCCGGTGGTGTCATGCTGCCCTCTTTTCTCCAGGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGTGAGTGACTTGCGGCCCTGGAGGACCAGGGCCTTCACGGTTGGCCAAGCGCTGAATTGGAAACCTCTCCTGGAAGCAAGTCCTGGTCCGAGCATGTCGGCCACCCGTGCGGCCTCAGAGGGGAGGAGCTGGTGGAGGCTGGAGGCAGGCAGAGGAGCAGCGGGGACAGTGCCCACCGTGGGGACAGTGGCCGTGGCGCTCCCGCCCAGAGCCTTCCCTGCAGCCCGAGGGCCTTCAGGCCTCCGCCATTCTGTCCCCCGCACCTGCCGCTCGCTCGGCACAGATGGGACCCCACCGCGTCACTCCTAGCCTGCGAGCCGCAGCCCAGAATGGCTCTCAGAACTGAGAATGGGCTGGGTGGCACTGAGGGTGGCGAGTGGGCGGGAGGGTGGTGAGCGGGGGCGGGAGGAGGGTGGTGAGCGGGTGGGAGGGCGAGTGGGCAGCGGGAGGGCGGGAGCACGAGGCGGGAGAAGGAGCTTTTTCGTCTGACAGCTGAGTCTGCCGTTGCTGGTGTTTTCTCTGGAGTTTCTTTGTTGAAGCTGAAGTGTTGGGGAAGACAAAGGCGAATGCTGACCCCACCCCAAACATTCCCAGACGAGCTCCTAGAACCCAGCAGACGGTTTCCAAATCTCATCTTCAAGTTCCCAGATTACCCTCCAGGCCCTAGATTTGAGTTTGCCAATTTGCCAGCCTGGCAAAGCTGTGCCTTCTCTAATGGGAACCAAATCCTGCCCCTTAGACAAGATGGCCCTTGGCTGGGCCTCACAGGGAACAAGGTTGGAGCATTCCAGGAGGTCTTTGTGCAGGGTTGTGGATGGCTGAGGGTGCTGGGGGGTCTGGGCTCAGACAGTGTTGGTCAGAGGGAGTGGCCTGAAGTATGGGTGAGAGGCCCTGGATGTGGCCTCTGATGGCTGCACCCCTGGTGCACACCCCTGCCAGCGTGTGTGACTCCCCCGGTCTTCCCCAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGTGAGGAGCTTCACAGCCCCCACACATGCCAGGTATGGGCCCAGGGAGGGTCAAGGAGATGGAGCGACCATTCAACCCTTGTTCCCCACAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGTGAGTGAGGGCTCCTGACACCTTCCTGGGGAAGTGCATGGCCTCAGCTTCTGATCCTCTTTGCTCGGGGTCTACTCCACGTCCCTGAGACCAAATGCAGTGTGTCCACCAGACTAACGCCGGCGTCTGTTTCTCTTCATCCCAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGTGAGTGGGGCAGGGGCAGCCTGCGCTGTTGGCCTCACCATGTAGCTGTGGACGTGGCCTCTGCGGCCCAGTCTGGCCCTCCCAGCACTGAGAGCCATGGCCTCCTGCCCAAGACAAATGGGTTTCTTCACCCACACGTCCAGGATGCCTCTTCCCACAGTCTCAGAGCGGGTGGGACCTGGGGAACCAGGAGATTCCGGCCTCTGCAACCGTGGGGCATGCGGTGGAGGGGTGGCCCCTCCCAGGGGTCCTGCTGGGGGAGTCAGTCCAGGCCAGGCCTCAAGCCCCACCCCAGCTGGGTGTGAGTTCCAGCAGCTGAGGCTTCTCCCCTCCATGTCTCTCCACTCAGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGTGAGTCACAGTTCCTGGAGCTGGGAACCACCCCAGGAAGGGGCAGGCGGAGGCTGGGGCTGGGTCAGGCCTCCAGAGCCACAGGACACATCATGAAGCCCCTGTGGCCCCTCAACGTGGCCAGCCCATCCCCACGCCGTCAGGGAGGGCAGCCCCTGAAGCCGGCGCCCAGCCATGTGCCTGATGCTGGGACCTGTTTCATGTGAAGGCGTTGCCCGTGGACCCGGTGCCCACTTTCCCACCAGGCGGCTTCCACGTTTCTGCATCCGAGCTTGGGTTCTTCTTTGGAATAAN
|
benign
| 320,676 |
Variant on chromosome 21, at position 45997444, affecting COL6A1 (collagen type VI alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Bethlem_myopathy_1A', 'COL6A1-related_disorder', 'likely other unspecified diseases']
|
GGCCATGCAGCCAGTGGCAGATTGTGGGGAGGGGACGGCCCAGGGCCACGTTCCAGGCTTGGGAGGCTGCTCCAGACCTTGGTAGCTGAAAGTCTCAGTGGGAATGAGCGTTCAGAGGCCAGGACTTGCTCGGAGAATTCTAACCACACCCTGCCTGTTTTATATGTTCAGTTTTCAAAGTAATCAATAGCCACTATAAGAAAAAAACAAAGCCACTTTCAAAGGGTTGTGGTAAGAGGCAGTCCTGTGAGCAGGCCGGCTGCAGGGCCTCCAGGGCTGTGGGGCAGGCTGCACAGGGGCTGGTGGGTCCCATGCCTGGGGGTCTGGGAATAGTCTCTAGGCTGCTGTCCTGGAGGAGGTTTCCCCCAACGCCTGAGACCAGGGCACCATGTGACCCATGACTCACAGTTGCCTGGCTGAGGCAGGCACTTGTTCACCTGGAGCCTCCCTGGGGCCTTTCGGGGCCCGGGGGTGTGGATAGGTGGCTTTGGAGCCACATTTGTCCATCGGGACGTTGGGCTCCCAGCTGGCCTTCCGGGCTTTCCCTGCTCCCAGAACCTCCCTGCTCAGCCCTTGCCAGCCTTACCCCTCCCCTCCACCCTGCCCAGCATGGGGCTCTCCCTGTGTGGATGCCAGAAGCAGTTGGGCCCTCAGGGCTGGTCCCAGGAGGTGCCCCCAGTGAGGTGCTCTGCAGAAACTGCCCAGTCTGGCCTCCTGCTGTCTGTGGCACAGTCTGACTGTGTGTGGTGAGGTCCAGGCCTTCTGCCTCCCACTTACCTGGCCCAGGGCACAGAGACCTCCTTTCCATCCTTCCTCCTGGCCCCCTTTTCGTGTTCCCAAGGCAGGATCTCAGGGTACCAGACTAACCCCTGTTGAACCCCAAGTTTGGTGAGCTTCTGGACCTCCTTGAGGCCCGTGTGCAAAGTCCCCAGTCAAGTGTGCAGTCCTGACTGCTGGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTACACGGCTCCCTTCTTGGCTCAGCTGGGCGCGCTGGGAAGTGCTTGGGGTGCCTGGGCTAGACTCCGAAGGGCAGGGACTCGCCGCTGGAGTTGTCCACGGAGCAGGCCCTCAAAGGTGGGAGCTGGGGCCAGCTCTGGAAATAGACCCCCACAGGGTCCTCATGAGATGTGGGGGACCCAAGGAAGTCCAGCAGGCAGCCTCAGGTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACAGGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAG
|
GGCCATGCAGCCAGTGGCAGATTGTGGGGAGGGGACGGCCCAGGGCCACGTTCCAGGCTTGGGAGGCTGCTCCAGACCTTGGTAGCTGAAAGTCTCAGTGGGAATGAGCGTTCAGAGGCCAGGACTTGCTCGGAGAATTCTAACCACACCCTGCCTGTTTTATATGTTCAGTTTTCAAAGTAATCAATAGCCACTATAAGAAAAAAACAAAGCCACTTTCAAAGGGTTGTGGTAAGAGGCAGTCCTGTGAGCAGGCCGGCTGCAGGGCCTCCAGGGCTGTGGGGCAGGCTGCACAGGGGCTGGTGGGTCCCATGCCTGGGGGTCTGGGAATAGTCTCTAGGCTGCTGTCCTGGAGGAGGTTTCCCCCAACGCCTGAGACCAGGGCACCATGTGACCCATGACTCACAGTTGCCTGGCTGAGGCAGGCACTTGTTCACCTGGAGCCTCCCTGGGGCCTTTCGGGGCCCGGGGGTGTGGATAGGTGGCTTTGGAGCCACATTTGTCCATCGGGACGTTGGGCTCCCAGCTGGCCTTCCGGGCTTTCCCTGCTCCCAGAACCTCCCTGCTCAGCCCTTGCCAGCCTTACCCCTCCCCTCCACCCTGCCCAGCATGGGGCTCTCCCTGTGTGGATGCCAGAAGCAGTTGGGCCCTCAGGGCTGGTCCCAGGAGGTGCCCCCAGTGAGGTGCTCTGCAGAAACTGCCCAGTCTGGCCTCCTGCTGTCTGTGGCACAGTCTGACTGTGTGTGGTGAGGTCCAGGCCTTCTGCCTCCCACTTACCTGGCCCAGGGCACAGAGACCTCCTTTCCATCCTTCCTCCTGGCCCCCTTTTCGTGTTCCCAAGGCAGGATCTCAGGGTACCAGACTAACCCCTGTTGAACCCCAAGTTTGGTGAGCTTCTGGACCTCCTTGAGGCCCGTGTGCAAAGTCCCCAGTCAAGTGTGCAGTCCTGACTGCTGGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTACACGGCTCCCTTCTTGGCTCAGCTGGGCGCGCTGGGAAGTGCTTGGGGTGCCTGGGCTAGACTCCGAAGGGCAGGGACTCGCCGCTGGAGTTGTCCACGGAGCAGGCCCTCAAAGGTGGGAGCTGGGGCCAGCTCTGGAAATAGACCCCCACAGGGTCCTCATGAGATGTGGGGGACCCAAGGAAGTCCAGCAGGCAGCCTCAGGTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACAGGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAGN
|
pathogenic
| 320,708 |
Mutation at chromosome 21, position 45997518, within COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
GACCTTGGTAGCTGAAAGTCTCAGTGGGAATGAGCGTTCAGAGGCCAGGACTTGCTCGGAGAATTCTAACCACACCCTGCCTGTTTTATATGTTCAGTTTTCAAAGTAATCAATAGCCACTATAAGAAAAAAACAAAGCCACTTTCAAAGGGTTGTGGTAAGAGGCAGTCCTGTGAGCAGGCCGGCTGCAGGGCCTCCAGGGCTGTGGGGCAGGCTGCACAGGGGCTGGTGGGTCCCATGCCTGGGGGTCTGGGAATAGTCTCTAGGCTGCTGTCCTGGAGGAGGTTTCCCCCAACGCCTGAGACCAGGGCACCATGTGACCCATGACTCACAGTTGCCTGGCTGAGGCAGGCACTTGTTCACCTGGAGCCTCCCTGGGGCCTTTCGGGGCCCGGGGGTGTGGATAGGTGGCTTTGGAGCCACATTTGTCCATCGGGACGTTGGGCTCCCAGCTGGCCTTCCGGGCTTTCCCTGCTCCCAGAACCTCCCTGCTCAGCCCTTGCCAGCCTTACCCCTCCCCTCCACCCTGCCCAGCATGGGGCTCTCCCTGTGTGGATGCCAGAAGCAGTTGGGCCCTCAGGGCTGGTCCCAGGAGGTGCCCCCAGTGAGGTGCTCTGCAGAAACTGCCCAGTCTGGCCTCCTGCTGTCTGTGGCACAGTCTGACTGTGTGTGGTGAGGTCCAGGCCTTCTGCCTCCCACTTACCTGGCCCAGGGCACAGAGACCTCCTTTCCATCCTTCCTCCTGGCCCCCTTTTCGTGTTCCCAAGGCAGGATCTCAGGGTACCAGACTAACCCCTGTTGAACCCCAAGTTTGGTGAGCTTCTGGACCTCCTTGAGGCCCGTGTGCAAAGTCCCCAGTCAAGTGTGCAGTCCTGACTGCTGGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTACACGGCTCCCTTCTTGGCTCAGCTGGGCGCGCTGGGAAGTGCTTGGGGTGCCTGGGCTAGACTCCGAAGGGCAGGGACTCGCCGCTGGAGTTGTCCACGGAGCAGGCCCTCAAAGGTGGGAGCTGGGGCCAGCTCTGGAAATAGACCCCCACAGGGTCCTCATGAGATGTGGGGGACCCAAGGAAGTCCAGCAGGCAGCCTCAGGTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACAGGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAGCTGCCCTCACAGCACCGTCACTGGAGGACGAGGGGCTGGGTAGGGAGGGACCGGGCAGGGGTGGGCTTGATGAG
|
GACCTTGGTAGCTGAAAGTCTCAGTGGGAATGAGCGTTCAGAGGCCAGGACTTGCTCGGAGAATTCTAACCACACCCTGCCTGTTTTATATGTTCAGTTTTCAAAGTAATCAATAGCCACTATAAGAAAAAAACAAAGCCACTTTCAAAGGGTTGTGGTAAGAGGCAGTCCTGTGAGCAGGCCGGCTGCAGGGCCTCCAGGGCTGTGGGGCAGGCTGCACAGGGGCTGGTGGGTCCCATGCCTGGGGGTCTGGGAATAGTCTCTAGGCTGCTGTCCTGGAGGAGGTTTCCCCCAACGCCTGAGACCAGGGCACCATGTGACCCATGACTCACAGTTGCCTGGCTGAGGCAGGCACTTGTTCACCTGGAGCCTCCCTGGGGCCTTTCGGGGCCCGGGGGTGTGGATAGGTGGCTTTGGAGCCACATTTGTCCATCGGGACGTTGGGCTCCCAGCTGGCCTTCCGGGCTTTCCCTGCTCCCAGAACCTCCCTGCTCAGCCCTTGCCAGCCTTACCCCTCCCCTCCACCCTGCCCAGCATGGGGCTCTCCCTGTGTGGATGCCAGAAGCAGTTGGGCCCTCAGGGCTGGTCCCAGGAGGTGCCCCCAGTGAGGTGCTCTGCAGAAACTGCCCAGTCTGGCCTCCTGCTGTCTGTGGCACAGTCTGACTGTGTGTGGTGAGGTCCAGGCCTTCTGCCTCCCACTTACCTGGCCCAGGGCACAGAGACCTCCTTTCCATCCTTCCTCCTGGCCCCCTTTTCGTGTTCCCAAGGCAGGATCTCAGGGTACCAGACTAACCCCTGTTGAACCCCAAGTTTGGTGAGCTTCTGGACCTCCTTGAGGCCCGTGTGCAAAGTCCCCAGTCAAGTGTGCAGTCCTGACTGCTGGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTACACGGCTCCCTTCTTGGCTCAGCTGGGCGCGCTGGGAAGTGCTTGGGGTGCCTGGGCTAGACTCCGAAGGGCAGGGACTCGCCGCTGGAGTTGTCCACGGAGCAGGCCCTCAAAGGTGGGAGCTGGGGCCAGCTCTGGAAATAGACCCCCACAGGGTCCTCATGAGATGTGGGGGACCCAAGGAAGTCCAGCAGGCAGCCTCAGGTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACAGGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAGCTGCCCTCACAGCACCGTCACTGGAGGACGAGGGGCTGGGTAGGGAGGGACCGGGCAGGGGTGGGCTTGATGA
|
benign
| 320,711 |
Evaluate this variant at chromosome 21, position 45998395, gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Bethlem_myopathy_1A']
|
TGCTGGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTACACGGCTCCCTTCTTGGCTCAGCTGGGCGCGCTGGGAAGTGCTTGGGGTGCCTGGGCTAGACTCCGAAGGGCAGGGACTCGCCGCTGGAGTTGTCCACGGAGCAGGCCCTCAAAGGTGGGAGCTGGGGCCAGCTCTGGAAATAGACCCCCACAGGGTCCTCATGAGATGTGGGGGACCCAAGGAAGTCCAGCAGGCAGCCTCAGGTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACAGGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAGCTGCCCTCACAGCACCGTCACTGGAGGACGAGGGGCTGGGTAGGGAGGGACCGGGCAGGGGTGGGCTTGATGAGGGGCAGGGCCCTGGGGGTGGGGGCTGTCTCAGCTCAGGAAGCACAGTGGGCTCCTCACCCTCAGAGCTCCTCTACTCCGTTTCTCGGACAGGGACCCCCAGGACACCAAGGACCGCCTGGGCCGGACGTAAGTGGGGCTCTGTGAACATTGCTGGGGGCGACCACTGTAGCTTCCATCCCTTGGGGTGTGGGTCCTGTCCATGGGTGCTCCTGTAGACGCTGCTCACGGGGGGGTGGGTTGTGGACAAAGAGCTGGTGCCAGGCCCTAGGGACCCGTGACGGCCATGGGAGGACCCGTGAGGATCATAGGGGGATGTGTGAGGACCATAGAGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGAGGACGTGAGGATCATGGAGGGGGACATGTGAGGATCATGGGGGACCCGTGAGGATCATGGGGGACCCGTGTGAGGATCATGGGGGGGGACGTGTGAGGATCATGGGGGGACCTGTACCCATGAGGACCATGAGGGGACCCGTGACGGCCACGGGGAGACCCATGACTGCGCTGTTTCTATGACCACGTCAGGGGTCCAGCCCAGTAGCAGGGGTGTAGTGGGCAGAGCCGGGCACACCTGCAAAGAACCTCCTGCCCAAACCCCGCCCTGTGGGGGCCCCAGGGAGGGTGACCTGGAGATCCAGCAGCCCACAGTCCCCGCTGGGAGGGGCTGTCTATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGG
|
TGCTGGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTACACGGCTCCCTTCTTGGCTCAGCTGGGCGCGCTGGGAAGTGCTTGGGGTGCCTGGGCTAGACTCCGAAGGGCAGGGACTCGCCGCTGGAGTTGTCCACGGAGCAGGCCCTCAAAGGTGGGAGCTGGGGCCAGCTCTGGAAATAGACCCCCACAGGGTCCTCATGAGATGTGGGGGACCCAAGGAAGTCCAGCAGGCAGCCTCAGGTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAGCTGCCCTCACAGCACCGTCACTGGAGGACGAGGGGCTGGGTAGGGAGGGACCGGGCAGGGGTGGGCTTGATGAGGGGCAGGGCCCTGGGGGTGGGGGCTGTCTCAGCTCAGGAAGCACAGTGGGCTCCTCACCCTCAGAGCTCCTCTACTCCGTTTCTCGGACAGGGACCCCCAGGACACCAAGGACCGCCTGGGCCGGACGTAAGTGGGGCTCTGTGAACATTGCTGGGGGCGACCACTGTAGCTTCCATCCCTTGGGGTGTGGGTCCTGTCCATGGGTGCTCCTGTAGACGCTGCTCACGGGGGGGTGGGTTGTGGACAAAGAGCTGGTGCCAGGCCCTAGGGACCCGTGACGGCCATGGGAGGACCCGTGAGGATCATAGGGGGATGTGTGAGGACCATAGAGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGAGGACGTGAGGATCATGGAGGGGGACATGTGAGGATCATGGGGGACCCGTGAGGATCATGGGGGACCCGTGTGAGGATCATGGGGGGGGACGTGTGAGGATCATGGGGGGACCTGTACCCATGAGGACCATGAGGGGACCCGTGACGGCCACGGGGAGACCCATGACTGCGCTGTTTCTATGACCACGTCAGGGGTCCAGCCCAGTAGCAGGGGTGTAGTGGGCAGAGCCGGGCACACCTGCAAAGAACCTCCTGCCCAAACCCCGCCCTGTGGGGGCCCCAGGGAGGGTGACCTGGAGATCCAGCAGCCCACAGTCCCCGCTGGGAGGGGCTGTCTATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGGNN
|
pathogenic
| 320,724 |
Is the genetic variant on chromosome 21, position 45998922, gene COL6A1 (collagen type VI alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Ullrich_congenital_muscular_dystrophy_1A']
|
GTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACAGGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAGCTGCCCTCACAGCACCGTCACTGGAGGACGAGGGGCTGGGTAGGGAGGGACCGGGCAGGGGTGGGCTTGATGAGGGGCAGGGCCCTGGGGGTGGGGGCTGTCTCAGCTCAGGAAGCACAGTGGGCTCCTCACCCTCAGAGCTCCTCTACTCCGTTTCTCGGACAGGGACCCCCAGGACACCAAGGACCGCCTGGGCCGGACGTAAGTGGGGCTCTGTGAACATTGCTGGGGGCGACCACTGTAGCTTCCATCCCTTGGGGTGTGGGTCCTGTCCATGGGTGCTCCTGTAGACGCTGCTCACGGGGGGGTGGGTTGTGGACAAAGAGCTGGTGCCAGGCCCTAGGGACCCGTGACGGCCATGGGAGGACCCGTGAGGATCATAGGGGGATGTGTGAGGACCATAGAGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGAGGACGTGAGGATCATGGAGGGGGACATGTGAGGATCATGGGGGACCCGTGAGGATCATGGGGGACCCGTGTGAGGATCATGGGGGGGGACGTGTGAGGATCATGGGGGGACCTGTACCCATGAGGACCATGAGGGGACCCGTGACGGCCACGGGGAGACCCATGACTGCGCTGTTTCTATGACCACGTCAGGGGTCCAGCCCAGTAGCAGGGGTGTAGTGGGCAGAGCCGGGCACACCTGCAAAGAACCTCCTGCCCAAACCCCGCCCTGTGGGGGCCCCAGGGAGGGTGACCTGGAGATCCAGCAGCCCACAGTCCCCGCTGGGAGGGGCTGTCTATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGGTGTCTCCACTGTTGGGGGCCTGGGTCTCTGGGTACATCCTTGAGGAGGCTCCTCAGCCAGCCCCTACCGGCCTCCAAAGCCCTCCCAGGCCCCCGGGTCCCCGCACAGGCTGAGAGTCCCCGGTGCGGTGCAGAGCTGCCACGTGGGGAGGGCGGCCGGGGAGGCGGGGAGGCGGGGCAGGAGGCCGGGGAAGGGGGGAGGCCGGGGAAGGAGGGCGGCCGGGGAGGCGGGGAGGCTGCCCCAAGAGTAAAAGCCTTTCTGACGTGCGCAGGACGCGGCCCTGACTGGTCTAACTGACTCTTTCTCTTCTCCTCAGCTTGCTGTGGTGAGACCCAGGCTCTAGCTCCTGAGAGAATGGATCCCGGGGGTCGGGGAGCGAGGCCTGGGTCCCACACATGTCACAGGACAGCACATGGCACTCTGGTCCCCGCCCGCAGCTCCCTGCACCTGCCCGCCCCCTCTGGGGCCTGCTCCAAGCCAGCAGGGTTCCCGGGTGTTGGGCTGGGCCCCGCCCTCTTTCACCCATA
|
GTGCAGGTGGGGGCAGGGTGGTGTCCAGGCTCAGCCCACAGAGGGTCCTGCGGTTGGGGGTGGGCTAAGGGGACCAGGCCAGGCCCAAAGGGGACCATGAGGGAGGGCAGTCTGGGGCCACTCTGATAGGAGAAGGGGCAGGTGGTCTGCGGCCTGGGGACCTGTAGCCTCACCCCTCCGTGGGGACCTGAGGCACCAGCCGGGCACTCACCGAAGTCATCTGGGACAGGCTTCACCCTTCCGTGGGGGCCTGAGGCACCAGCCGGGCGCCCACCAAAGTCATCTGGGAGAGGCTTCACCCCTCCGTGGGGGCCTGAGGCACCAGCTGGGCGCCCACCGAAGGGCTTCAACACTTGTGCCCAGGCCCTTCGTGCAGGCCCTTCGTCAGACCCAAGAGTGGGCCTGGCTCTCCCCCTGCACTGATGGGACTGGGGCCAGAGCCTGGGGGCCCTGATGCCTCTTGGTCTGAGACCCTCAGCTTAGGGTCAGGGAGGGCTCAGGCTGGGTGAGGCCTGTGGTCCAACGTGCCATATCCATCTCTCTACAGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGTGAGTCCCACTCCCCACCCACACCCGCCCACCCAGGGGGGCCTGAGGATCCAGAACCCACTGTCTGCCCAGTGCTGGCCCCGTGCCCTCTGAGGACTCTATGGCCCTGGGTGTCCTGGCTCCCGATGGGACCTCTCCCGGCCCCAGGAGGGCCCTGCTTCCCTCCAAGGTCACCATGCTAAGCCTGCTCCCCTCACGCCTCCTCTTCCTCCTCAGGGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGTGAGTGTCCAACAGCTCGGGCCCTAGGGCGGAGGCCTGGCCGCCAGAGGCCCTGGGAAGCCCCAGCCCCGCACTGTGGAGCTGCCTGGGGTCCCTGACCGGGCCGGGAGTGCCCGCAGCATCACTGGCTCCTGGCCACAGTCGGCACCTGAGCCAGAGGCCGCCTCGGCAGGGCCCCTCCTGCCCCGAGATCCGGGTCCCAGGGTCCACGGGGACCAGCAGGGTGGCCCCAGGGGAGGGAGCCGGCTTCTGGGCTGACGGAGGGGCCCTGCGGGTGAGGTGCTCCCGGGCCTGTGCCAGCCAGTGGGTATCCCAGGCCAGGCCGATTCGCACGGTGACGGCTACTCTGCTCCCCCAGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTTCCCCGTAAGTGTCCGGAGGCTGAGCCCACAGGAACATGCCCAAGCTGCCTGCGGCGCCCTCTTTAGTGGACTGGGCACTCTTGGGTGGGCGGGCTGGCCCCAGGACCGCCGGCTGGCCCAGGAATTCCATGGCCGGGATTCTGTCAGCTCAGGCCCTTCCGCTGTGCGCCCCTCACAGCCTCCCCTCTCAAATCAGAACCCGGTATCACTGCCCTGCTTTTCCATGACAGGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGCCCCCTCCTCCATCTGGCTGTGGGCACACAAACATTCACAGTCACAGGGACACGCACGTGTGAACACACATGTGCACACAGGCTCCCGAGCAAACACACGGGGTACACAGGCACCCACGGCTGCCCCACTGTCTGTGGCCACAGCCCCAGTTGGCATCGGCTCCTGCAGGCCCTGCGAGGCTCCCACTGTGGTGTGGCCTGTGGGTCTCCTCACGGCCCTGACTGCCCGGTGACCGATCTCCCCTCGGTGCGCAGGGCAGGCCCAGCCCCAGAGGCCGCCCCACGGCTCTCTAGGCCACTCCGGGACCCAGTTTCTCCAGCCCAGGAAATGTGTGTGGTGGGGGAAGGGAAGAGAAGAGTGCCTCTCTTATCTTTATTTTTTTCCTTTTAAAATTTCCACTTCCTAAAAACAAAATAAAACCCTTGTTAACCAAGTGCTCTCCCGTCACTGCAGGGCACGAAGGGCTACCCCGGCCTCAAGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAGGCAGGGCCAGCCCCAAGTCCACCTGAGCCAGAGGGCTGGGCCCTTGAAGGGCAGTGGACCAGGACCCGCTTGGGGAGGCCTCATGGGCCCCGGCTGCTGGATGCTCTGTGGACGGGGCCAGCGCGCAGATGCCCGGGTGGTGCACGGTCTGTTGACACAACGCTGTTCCCTTCTAGAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGTGGGTGGATGTGGCTGGGTGAGGCCACGGTGGGCTGTGCCTGGGACGCCGGATGCTGGGGCTGGGGAATGCTGGAAGAGGCTGGGAGAGTGGGAGGCGGCGGGAGGGAATTTTGGGGAGCACGTCATCTGGGAGGCCCTGGGGGTGGGAGGTGCCGGTCACCAGGGCCAGGTGGTGGCCAGGGCAGCAGAGCCGAGCCCAGGGACACAGCGGGTCCTCAGGGTGGGGCCCACCTGGGATGGCCGCCTGGACCACCAGTGTGCGAAGCCCCAGCTGCCCTCACAGCACCGTCACTGGAGGACGAGGGGCTGGGTAGGGAGGGACCGGGCAGGGGTGGGCTTGATGAGGGGCAGGGCCCTGGGGGTGGGGGCTGTCTCAGCTCAGGAAGCACAGTGGGCTCCTCACCCTCAGAGCTCCTCTACTCCGTTTCTCGGACAGGGACCCCCAGGACACCAAGGACCGCCTGGGCCGGACGTAAGTGGGGCTCTGTGAACATTGCTGGGGGCGACCACTGTAGCTTCCATCCCTTGGGGTGTGGGTCCTGTCCATGGGTGCTCCTGTAGACGCTGCTCACGGGGGGGTGGGTTGTGGACAAAGAGCTGGTGCCAGGCCCTAGGGACCCGTGACGGCCATGGGAGGACCCGTGAGGATCATAGGGGGATGTGTGAGGACCATAGAGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGAGGACGTGAGGATCATGGAGGGGGACATGTGAGGATCATGGGGGACCCGTGAGGATCATGGGGGACCCGTGTGAGGATCATGGGGGGGGACGTGTGAGGATCATGGGGGGACCTGTACCCATGAGGACCATGAGGGGACCCGTGACGGCCACGGGGAGACCCATGACTGCGCTGTTTCTATGACCACGTCAGGGGTCCAGCCCAGTAGCAGGGGTGTAGTGGGCAGAGCCGGGCACACCTGCAAAGAACCTCCTGCCCAAACCCCGCCCTGTGGGGGCCCCAGGGAGGGTGACCTGGAGATCCAGCAGCCCACAGTCCCCGCTGGGAGGGGCTGTCTATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGGTGTCTCCACTGTTGGGGGCCTGGGTCTCTGGGTACATCCTTGAGGAGGCTCCTCAGCCAGCCCCTACCGGCCTCCAAAGCCCTCCCAGGCCCCCGGGTCCCCGCACAGGCTGAGAGTCCCCGGTGCGGTGCAGAGCTGCCACGTGGGGAGGGCGGCCGGGGAGGCGGGGAGGCGGGGCAGGAGGCCGGGGAAGGGGGGAGGCCGGGGAAGGAGGGCGGCCGGGGAGGCGGGGAGGCTGCCCCAAGAGTAAAAGCCTTTCTGACGTGCGCAGGACGCGGCCCTGACTGGTCTAACTGACTCTTTCTCTTCTCCTCAGCTTGCTGTGGTGAGACCCAGGCTCTAGCTCCTGAGAGAATGGATCCCGGGGGTCGGGGAGCGAGGCCTGGGTCCCACACATGTCACAGGACAGCACATGGCACTCTGGTCCCCGCCCGCAGCTCCCTGCACCTGCCCGCCCCCTCTGGGGCCTGCTCCAAGCCAGCAGGGTTCCCGGGTGTTGGGCTGGGCCCCGCCCTCTTTCACCCATANN
|
pathogenic
| 320,734 |
Gene mutation in COL6A1 (collagen type VI alpha 1 chain) at chromosome 21, position 46002345—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Bethlem_myopathy_1A', 'COL6A1-related_disorder']
|
TATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGGTGTCTCCACTGTTGGGGGCCTGGGTCTCTGGGTACATCCTTGAGGAGGCTCCTCAGCCAGCCCCTACCGGCCTCCAAAGCCCTCCCAGGCCCCCGGGTCCCCGCACAGGCTGAGAGTCCCCGGTGCGGTGCAGAGCTGCCACGTGGGGAGGGCGGCCGGGGAGGCGGGGAGGCGGGGCAGGAGGCCGGGGAAGGGGGGAGGCCGGGGAAGGAGGGCGGCCGGGGAGGCGGGGAGGCTGCCCCAAGAGTAAAAGCCTTTCTGACGTGCGCAGGACGCGGCCCTGACTGGTCTAACTGACTCTTTCTCTTCTCCTCAGCTTGCTGTGGTGAGACCCAGGCTCTAGCTCCTGAGAGAATGGATCCCGGGGGTCGGGGAGCGAGGCCTGGGTCCCACACATGTCACAGGACAGCACATGGCACTCTGGTCCCCGCCCGCAGCTCCCTGCACCTGCCCGCCCCCTCTGGGGCCTGCTCCAAGCCAGCAGGGTTCCCGGGTGTTGGGCTGGGCCCCGCCCTCTTTCACCCATAACTGAAATAACCAGGAGCAGGCTTGGGGGGGTCCCTGCTCCATCATTCTGGCCCACAGGCCCCACCCTAGCCTGGCTGAGCAACGCCAGCCCTGACCAGCCGCCGGACAGAGCAGCCTTTACGGGGCCATGGGAGGGGGTGGGCTTTTCTGGGGCTGAGACGGGGGGACCCCAACGTGTCAGGTGAGGATGTGGCAGCCAAGGAGGGGCCAGGGCGGTGGAGGGGAGGGGCCAGGGCACTGGAGGGGAGGGGCGTGCTCTGCTGACACCGCCCCCGCCTGCAGAATGCAAGTGCGGCCCCATCGACCTCCTGTTCGTGCTGGACAGCTCAGAGAGCATTGGCCTGCAGAACTTCGAGATTGCCAAGGACTTCGTCGTCAAGGTCATCGACCGGCTGAGCCGGGACGAGCTGGTCAAGGTGAGGCCTCGCCCCGCCCGGCTTTCTCAAGCCCAGGTGCACCCCGACCCTGCCGGCCGCCCCTGCCCGCGCCAGACCTCAGCCTCCCGAGGCCACCGCTGCATCCCTGTGACTTCCCTACTCATGACAAGGATGCCAGGCACGCGCCAGCCCGTCCAGGCCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGGGCACCCGGAGCCAATCGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGTGCACCCAGAGCCAATCGCAGGGGACCCAGGTCCTGAGGTCCTGGGGGCCATGCCACCCTCTGGGCACCCGCAGCCAATAGAGTCACCCTTGGGAAGCTTATGCGGACCTGGGGCAGCACTCGCGTCCTGACCCCGGTGCCGGTCCCACAGTTCGAGCCAGGGCAGTCGTACGCGGGTGTGGTGCAGTACAGCCACAGCCAGATGCAGGAGCACGTGAGCCTGCGCAGCCCCAGCATCCGGAACGTGCAGGAGCTCAAGGAGTGAGTGCCCCACGCGGCCAGGACCCTCCCACCCCTCGCCCCGACCGCTGTTCCCACGGCAGGTCGGCCCTGACCCCTGATCCCAGGTGGGCTCGGCCCCGCGGCAGGCCTGGCCCCAACCGGCCCTTCCTGCCCTTTGCTATGCAGAGCCATCAAGAGCCTGCAGTGGATGGCGGGCGGCACCTTCACGGGGGAGGCCCTGCAGTACACGCGGGACCAGCTGCTGCCGCCCAGCCCGAACAACCGCATCGCCCTGGTCATCACTGACGGGCGCTCAGACACTCAGAGGGACACCACACCGCTCAACGTGCTCTGCAGCCCCGGCATCCAGGTGGGGTGGCCACCCCCAGGCTGCACCTGCCCCGCCTAGGGCGCCCCGCCAGCCAGGGTGGCCTTGTCCCCAGAAAGACGAGGGCAGAGCAGGCTGCGCCACACCGATACTGTCTGTCCCCACAGGTGGTCTCCGTGGGCATCAAAGACGTGTTTGACTTCATCCCAGGCTCAGACCAGCTCAATGTCATTTCTTGCCAAGGCCTGGCACCATCCCAGGGCCGGCCCGGCCTCTCGCTGGTCAAGGAGAACTATGCAGAGCTGCTGGAGGATGCCTTCCTGAAGAATGTCACCGCCCAGATCTGCATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGTGTAGGTGCGCGCAGGCGCCCAGGGCTGTCCCAGAGGCCTCCTCCCAGCTCACTGTTACCTCCAGGGGCACGGCCACCCTGTAGGTGCGCACGGGGCCGCCTGGGGCTGTCCCACAGGCATCCTCCTCCCGGCTCGCTGTGACTTCCGGGGGCACGGCCACCCCTGTGCTCGGCCGGGAGGTCCTGTGACATCTCCTTGCGGGGTTATAGGTGGAGCAGTGGGCTCACACTGCACGGCTTTTCTCTTTTACAGACAAGAAGTGTCCAGATTACACCTGCCCCAGTGAGTACCTCGGCGGCCGGGACACGTGGGGAGGAGGGCACCGTGGTTGGGGCGAGGGCTCTGAGAGGACGGGGCTCTGGGAGGAGGGCCTGGCGGTCACGAGAGTAGGTGCATGGCTCACTCCGGTGGCTGAGCACCACCGTGCCGTGCCCTCTCTGGGGAGCTTAGACGCTCTCTGGCCGGCCCACTGCGGCTGCATCACCAGGGCCTCATGCTAACGGCTGCCCACCCCGCCCCGCAGTCACGTTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACGGCTCCGCCAGCGTGGGCAGCCACAACTTTGACACCACCAAGCGCTTCGCCAAGCGCCTGGCCGAGCGCTTCCTCACAGCGGGCAGGACGGACCCCGCCCACGACGTGCGGGTGGCGGTGGTGCAGTACAGCGGCACGGGCCAGCAGCGCCCAGAGCGGGCGTCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTGCCGTCGATGCCATGGACTTTATCAACGACGCCACCGACGTCAACGATGCCCTGGGCTATGTGACCCGCTTCTACCGCGAGGCCTCGTCCGGCGCTGCCAAGAAGAGGCTGCTGCTCTTCTCAGATGGCAACTCGCAGGGCGCCACGCCCGCTGCCATCGAGAAGGCCGTGCAGGAAGCCCAGCGGGCAGGCATCGAGATCTTCGTGGTGGTCGTGGGCCGCCAGGTGAATGAGCCCCACATCCGCGTCCTGGTCACCGGCAAGACGGCCGAGTACGACGTGGCCTACGGCGAGAGCCACCTGTTCCGTGTCCCCAGCTACCAGGCCCTGCTCCGCGGTGTCTTCCACCAGACAGTCTCCAGGAAGGTGGCGCTGGGCTAGCCCACCCTGCACGCCGGCACCAAACCCTGTCCTCCCACCCCTCCCCACTCATCACTAAACAGAGTAAAATGTGATGCGAATTTTCCCGACCAACCTGATTCGCTAGATTTTTTTTAAGGAAAAGCTTGGAAAGCCAGGACACAACGCTGCTGCCTGCTTTGTGCAGGGTCCTCCGGGGCTCAGCCCTGAGTTGGCATCACCTGCGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTAGTGTCACCTGCACAGGGCCCTCTGAGGCTCAGCCCTGAGCTGGCGTCACCTGTGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTGGCCTCACCTGGGTTCCCCACCCCGGGCTCTCCTGCCCTGCCCTCCTGCCCGCCCTCCCTC
|
TATGGCCCCAGTACCCTCGTCTCTCCCTCCCCAGGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTGTGAGTATCTCTGAGAAGCCGTCCTCGTTAGGGAGAGCAGGGCCGCCAGCCTGGCCTGTTCCACTCCTAGAAGGGTGTCTCCACTGTTGGGGGCCTGGGTCTCTGGGTACATCCTTGAGGAGGCTCCTCAGCCAGCCCCTACCGGCCTCCAAAGCCCTCCCAGGCCCCCGGGTCCCCGCACAGGCTGAGAGTCCCCGGTGCGGTGCAGAGCTGCCACGTGGGGAGGGCGGCCGGGGAGGCGGGGAGGCGGGGCAGGAGGCCGGGGAAGGGGGGAGGCCGGGGAAGGAGGGCGGCCGGGGAGGCGGGGAGGCTGCCCCAAGAGTAAAAGCCTTTCTGACGTGCGCAGGACGCGGCCCTGACTGGTCTAACTGACTCTTTCTCTTCTCCTCAGCTTGCTGTGGTGAGACCCAGGCTCTAGCTCCTGAGAGAATGGATCCCGGGGGTCGGGGAGCGAGGCCTGGGTCCCACACATGTCACAGGACAGCACATGGCACTCTGGTCCCCGCCCGCAGCTCCCTGCACCTGCCCGCCCCCTCTGGGGCCTGCTCCAAGCCAGCAGGGTTCCCGGGTGTTGGGCTGGGCCCCGCCCTCTTTCACCCATAACTGAAATAACCAGGAGCAGGCTTGGGGGGGTCCCTGCTCCATCATTCTGGCCCACAGGCCCCACCCTAGCCTGGCTGAGCAACGCCAGCCCTGACCAGCCGCCGGACAGAGCAGCCTTTACGGGGCCATGGGAGGGGGTGGGCTTTTCTGGGGCTGAGACGGGGGGACCCCAACGTGTCAGGTGAGGATGTGGCAGCCAAGGAGGGGCCAGGGCGGTGGAGGGGAGGGGCCAGGGCACTGGAGGGGAGGGGCGTGCTCTGCTGACACCGCCCCCGCCTGCAGAATGCAAGTGCGGCCCCATCGACCTCCTGTTCGTGCTGGACAGCTCAGAGAGCATTGGCCTGCAGAACTTCGAGATTGCCAAGGACTTCGTCGTCAAGGTCATCGACCGGCTGAGCCGGGACGAGCTGGTCAAGGTGAGGCCTCGCCCCGCCCGGCTTTCTCAAGCCCAGGTGCACCCCGACCCTGCCGGCCGCCCCTGCCCGCGCCAGACCTCAGCCTCCCGAGGCCACCGCTGCATCCCTGTGACTTCCCTACTCATGACAAGGATGCCAGGCACGCGCCAGCCCGTCCAGGCCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGGGCACCCGGAGCCAATCGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGTGCACCCAGAGCCAATCGCAGGGGACCCAGGTCCTGAGGTCCTGGGGGCCATGCCACCCTCTGGGCACCCGCAGCCAATAGAGTCACCCTTGGGAAGCTTATGCGGACCTGGGGCAGCACTCGCGTCCTGACCCCGGTGCCGGTCCCACAGTTCGAGCCAGGGCAGTCGTACGCGGGTGTGGTGCAGTACAGCCACAGCCAGATGCAGGAGCACGTGAGCCTGCGCAGCCCCAGCATCCGGAACGTGCAGGAGCTCAAGGAGTGAGTGCCCCACGCGGCCAGGACCCTCCCACCCCTCGCCCCGACCGCTGTTCCCACGGCAGGTCGGCCCTGACCCCTGATCCCAGGTGGGCTCGGCCCCGCGGCAGGCCTGGCCCCAACCGGCCCTTCCTGCCCTTTGCTATGCAGAGCCATCAAGAGCCTGCAGTGGATGGCGGGCGGCACCTTCACGGGGGAGGCCCTGCAGTACACGCGGGACCAGCTGCTGCCGCCCAGCCCGAACAACCGCATCGCCCTGGTCATCACTGACGGGCGCTCACTCAGAGGGACACCACACCGCTCAACGTGCTCTGCAGCCCCGGCATCCAGGTGGGGTGGCCACCCCCAGGCTGCACCTGCCCCGCCTAGGGCGCCCCGCCAGCCAGGGTGGCCTTGTCCCCAGAAAGACGAGGGCAGAGCAGGCTGCGCCACACCGATACTGTCTGTCCCCACAGGTGGTCTCCGTGGGCATCAAAGACGTGTTTGACTTCATCCCAGGCTCAGACCAGCTCAATGTCATTTCTTGCCAAGGCCTGGCACCATCCCAGGGCCGGCCCGGCCTCTCGCTGGTCAAGGAGAACTATGCAGAGCTGCTGGAGGATGCCTTCCTGAAGAATGTCACCGCCCAGATCTGCATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGTGTAGGTGCGCGCAGGCGCCCAGGGCTGTCCCAGAGGCCTCCTCCCAGCTCACTGTTACCTCCAGGGGCACGGCCACCCTGTAGGTGCGCACGGGGCCGCCTGGGGCTGTCCCACAGGCATCCTCCTCCCGGCTCGCTGTGACTTCCGGGGGCACGGCCACCCCTGTGCTCGGCCGGGAGGTCCTGTGACATCTCCTTGCGGGGTTATAGGTGGAGCAGTGGGCTCACACTGCACGGCTTTTCTCTTTTACAGACAAGAAGTGTCCAGATTACACCTGCCCCAGTGAGTACCTCGGCGGCCGGGACACGTGGGGAGGAGGGCACCGTGGTTGGGGCGAGGGCTCTGAGAGGACGGGGCTCTGGGAGGAGGGCCTGGCGGTCACGAGAGTAGGTGCATGGCTCACTCCGGTGGCTGAGCACCACCGTGCCGTGCCCTCTCTGGGGAGCTTAGACGCTCTCTGGCCGGCCCACTGCGGCTGCATCACCAGGGCCTCATGCTAACGGCTGCCCACCCCGCCCCGCAGTCACGTTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACGGCTCCGCCAGCGTGGGCAGCCACAACTTTGACACCACCAAGCGCTTCGCCAAGCGCCTGGCCGAGCGCTTCCTCACAGCGGGCAGGACGGACCCCGCCCACGACGTGCGGGTGGCGGTGGTGCAGTACAGCGGCACGGGCCAGCAGCGCCCAGAGCGGGCGTCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTGCCGTCGATGCCATGGACTTTATCAACGACGCCACCGACGTCAACGATGCCCTGGGCTATGTGACCCGCTTCTACCGCGAGGCCTCGTCCGGCGCTGCCAAGAAGAGGCTGCTGCTCTTCTCAGATGGCAACTCGCAGGGCGCCACGCCCGCTGCCATCGAGAAGGCCGTGCAGGAAGCCCAGCGGGCAGGCATCGAGATCTTCGTGGTGGTCGTGGGCCGCCAGGTGAATGAGCCCCACATCCGCGTCCTGGTCACCGGCAAGACGGCCGAGTACGACGTGGCCTACGGCGAGAGCCACCTGTTCCGTGTCCCCAGCTACCAGGCCCTGCTCCGCGGTGTCTTCCACCAGACAGTCTCCAGGAAGGTGGCGCTGGGCTAGCCCACCCTGCACGCCGGCACCAAACCCTGTCCTCCCACCCCTCCCCACTCATCACTAAACAGAGTAAAATGTGATGCGAATTTTCCCGACCAACCTGATTCGCTAGATTTTTTTTAAGGAAAAGCTTGGAAAGCCAGGACACAACGCTGCTGCCTGCTTTGTGCAGGGTCCTCCGGGGCTCAGCCCTGAGTTGGCATCACCTGCGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTAGTGTCACCTGCACAGGGCCCTCTGAGGCTCAGCCCTGAGCTGGCGTCACCTGTGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTGGCCTCACCTGGGTTCCCCACCCCGGGCTCTCCTGCCCTGCCCTCCTGCCCGCCCTCCCTCNNNN
|
pathogenic
| 320,792 |
Variant chromosome 21, position 46002718, gene COL6A1 (collagen type VI alpha 1 chain): benign or pathogenic? Disease(s)?
|
benign
|
CGGGGAGGCTGCCCCAAGAGTAAAAGCCTTTCTGACGTGCGCAGGACGCGGCCCTGACTGGTCTAACTGACTCTTTCTCTTCTCCTCAGCTTGCTGTGGTGAGACCCAGGCTCTAGCTCCTGAGAGAATGGATCCCGGGGGTCGGGGAGCGAGGCCTGGGTCCCACACATGTCACAGGACAGCACATGGCACTCTGGTCCCCGCCCGCAGCTCCCTGCACCTGCCCGCCCCCTCTGGGGCCTGCTCCAAGCCAGCAGGGTTCCCGGGTGTTGGGCTGGGCCCCGCCCTCTTTCACCCATAACTGAAATAACCAGGAGCAGGCTTGGGGGGGTCCCTGCTCCATCATTCTGGCCCACAGGCCCCACCCTAGCCTGGCTGAGCAACGCCAGCCCTGACCAGCCGCCGGACAGAGCAGCCTTTACGGGGCCATGGGAGGGGGTGGGCTTTTCTGGGGCTGAGACGGGGGGACCCCAACGTGTCAGGTGAGGATGTGGCAGCCAAGGAGGGGCCAGGGCGGTGGAGGGGAGGGGCCAGGGCACTGGAGGGGAGGGGCGTGCTCTGCTGACACCGCCCCCGCCTGCAGAATGCAAGTGCGGCCCCATCGACCTCCTGTTCGTGCTGGACAGCTCAGAGAGCATTGGCCTGCAGAACTTCGAGATTGCCAAGGACTTCGTCGTCAAGGTCATCGACCGGCTGAGCCGGGACGAGCTGGTCAAGGTGAGGCCTCGCCCCGCCCGGCTTTCTCAAGCCCAGGTGCACCCCGACCCTGCCGGCCGCCCCTGCCCGCGCCAGACCTCAGCCTCCCGAGGCCACCGCTGCATCCCTGTGACTTCCCTACTCATGACAAGGATGCCAGGCACGCGCCAGCCCGTCCAGGCCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGGGCACCCGGAGCCAATCGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGTGCACCCAGAGCCAATCGCAGGGGACCCAGGTCCTGAGGTCCTGGGGGCCATGCCACCCTCTGGGCACCCGCAGCCAATAGAGTCACCCTTGGGAAGCTTATGCGGACCTGGGGCAGCACTCGCGTCCTGACCCCGGTGCCGGTCCCACAGTTCGAGCCAGGGCAGTCGTACGCGGGTGTGGTGCAGTACAGCCACAGCCAGATGCAGGAGCACGTGAGCCTGCGCAGCCCCAGCATCCGGAACGTGCAGGAGCTCAAGGAGTGAGTGCCCCACGCGGCCAGGACCCTCCCACCCCTCGCCCCGACCGCTGTTCCCACGGCAGGTCGGCCCTGACCCCTGATCCCAGGTGGGCTCGGCCCCGCGGCAGGCCTGGCCCCAACCGGCCCTTCCTGCCCTTTGCTATGCAGAGCCATCAAGAGCCTGCAGTGGATGGCGGGCGGCACCTTCACGGGGGAGGCCCTGCAGTACACGCGGGACCAGCTGCTGCCGCCCAGCCCGAACAACCGCATCGCCCTGGTCATCACTGACGGGCGCTCAGACACTCAGAGGGACACCACACCGCTCAACGTGCTCTGCAGCCCCGGCATCCAGGTGGGGTGGCCACCCCCAGGCTGCACCTGCCCCGCCTAGGGCGCCCCGCCAGCCAGGGTGGCCTTGTCCCCAGAAAGACGAGGGCAGAGCAGGCTGCGCCACACCGATACTGTCTGTCCCCACAGGTGGTCTCCGTGGGCATCAAAGACGTGTTTGACTTCATCCCAGGCTCAGACCAGCTCAATGTCATTTCTTGCCAAGGCCTGGCACCATCCCAGGGCCGGCCCGGCCTCTCGCTGGTCAAGGAGAACTATGCAGAGCTGCTGGAGGATGCCTTCCTGAAGAATGTCACCGCCCAGATCTGCATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGTGTAGGTGCGCGCAGGCGCCCAGGGCTGTCCCAGAGGCCTCCTCCCAGCTCACTGTTACCTCCAGGGGCACGGCCACCCTGTAGGTGCGCACGGGGCCGCCTGGGGCTGTCCCACAGGCATCCTCCTCCCGGCTCGCTGTGACTTCCGGGGGCACGGCCACCCCTGTGCTCGGCCGGGAGGTCCTGTGACATCTCCTTGCGGGGTTATAGGTGGAGCAGTGGGCTCACACTGCACGGCTTTTCTCTTTTACAGACAAGAAGTGTCCAGATTACACCTGCCCCAGTGAGTACCTCGGCGGCCGGGACACGTGGGGAGGAGGGCACCGTGGTTGGGGCGAGGGCTCTGAGAGGACGGGGCTCTGGGAGGAGGGCCTGGCGGTCACGAGAGTAGGTGCATGGCTCACTCCGGTGGCTGAGCACCACCGTGCCGTGCCCTCTCTGGGGAGCTTAGACGCTCTCTGGCCGGCCCACTGCGGCTGCATCACCAGGGCCTCATGCTAACGGCTGCCCACCCCGCCCCGCAGTCACGTTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACGGCTCCGCCAGCGTGGGCAGCCACAACTTTGACACCACCAAGCGCTTCGCCAAGCGCCTGGCCGAGCGCTTCCTCACAGCGGGCAGGACGGACCCCGCCCACGACGTGCGGGTGGCGGTGGTGCAGTACAGCGGCACGGGCCAGCAGCGCCCAGAGCGGGCGTCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTGCCGTCGATGCCATGGACTTTATCAACGACGCCACCGACGTCAACGATGCCCTGGGCTATGTGACCCGCTTCTACCGCGAGGCCTCGTCCGGCGCTGCCAAGAAGAGGCTGCTGCTCTTCTCAGATGGCAACTCGCAGGGCGCCACGCCCGCTGCCATCGAGAAGGCCGTGCAGGAAGCCCAGCGGGCAGGCATCGAGATCTTCGTGGTGGTCGTGGGCCGCCAGGTGAATGAGCCCCACATCCGCGTCCTGGTCACCGGCAAGACGGCCGAGTACGACGTGGCCTACGGCGAGAGCCACCTGTTCCGTGTCCCCAGCTACCAGGCCCTGCTCCGCGGTGTCTTCCACCAGACAGTCTCCAGGAAGGTGGCGCTGGGCTAGCCCACCCTGCACGCCGGCACCAAACCCTGTCCTCCCACCCCTCCCCACTCATCACTAAACAGAGTAAAATGTGATGCGAATTTTCCCGACCAACCTGATTCGCTAGATTTTTTTTAAGGAAAAGCTTGGAAAGCCAGGACACAACGCTGCTGCCTGCTTTGTGCAGGGTCCTCCGGGGCTCAGCCCTGAGTTGGCATCACCTGCGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTAGTGTCACCTGCACAGGGCCCTCTGAGGCTCAGCCCTGAGCTGGCGTCACCTGTGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTGGCCTCACCTGGGTTCCCCACCCCGGGCTCTCCTGCCCTGCCCTCCTGCCCGCCCTCCCTCCTGCCTGCGCAGCTCCTTCCCTAGGCACCTCTGTGCTGCATCCCACCAGCCTGAGCAAGACGCCCTCTCGGGGCCTGTGCCGCACTAGCCTCCCTCTCCTCTGTCCCCATAGCTGGTTTTTCCCACCAATCCTCACCTAACAGTTACTTTACAATTAAACTCAAAGCAAGCTCTTCTCCTCAGCTTGGGGCAGCCATTGGCCTCTGTCTCGTTTTGGGAAACCAAGGTCAGGAGGCCGTTGCAGACATAAATCTCGGCGACTCGGCCCCGTCTCCTGAGGGTCCTGCTGGTGACCGGCCTGGACCTTGGCCCTACAGCCCTGGAGGCCGCTGCTGACCAGCACTGACCCCGACCTCAGAGAGTACTCGCAGGG
|
CGGGGAGGCTGCCCCAAGAGTAAAAGCCTTTCTGACGTGCGCAGGACGCGGCCCTGACTGGTCTAACTGACTCTTTCTCTTCTCCTCAGCTTGCTGTGGTGAGACCCAGGCTCTAGCTCCTGAGAGAATGGATCCCGGGGGTCGGGGAGCGAGGCCTGGGTCCCACACATGTCACAGGACAGCACATGGCACTCTGGTCCCCGCCCGCAGCTCCCTGCACCTGCCCGCCCCCTCTGGGGCCTGCTCCAAGCCAGCAGGGTTCCCGGGTGTTGGGCTGGGCCCCGCCCTCTTTCACCCATAACTGAAATAACCAGGAGCAGGCTTGGGGGGGTCCCTGCTCCATCATTCTGGCCCACAGGCCCCACCCTAGCCTGGCTGAGCAACGCCAGCCCTGACCAGCCGCCGGACAGAGCAGCCTTTACGGGGCCATGGGAGGGGGTGGGCTTTTCTGGGGCTGAGACGGGGGGACCCCAACGTGTCAGGTGAGGATGTGGCAGCCAAGGAGGGGCCAGGGCGGTGGAGGGGAGGGGCCAGGGCACTGGAGGGGAGGGGCGTGCTCTGCTGACACCGCCCCCGCCTGCAGAATGCAAGTGCGGCCCCATCGACCTCCTGTTCGTGCTGGACAGCTCAGAGAGCATTGGCCTGCAGAACTTCGAGATTGCCAAGGACTTCGTCGTCAAGGTCATCGACCGGCTGAGCCGGGACGAGCTGGTCAAGGTGAGGCCTCGCCCCGCCCGGCTTTCTCAAGCCCAGGTGCACCCCGACCCTGCCGGCCGCCCCTGCCCGCGCCAGACCTCAGCCTCCCGAGGCCACCGCTGCATCCCTGTGACTTCCCTACTCATGACAAGGATGCCAGGCACGCGCCAGCCCGTCCAGGCCTCCAGCTCCACCTGGCGAGGCTGGCCCATTGTACACAGGCGCCCCAGATGAGGGAGGGTCTCCCCCTCTCCTTGAAGGGCGGTAGTCTGGGGTCCTGAGTGCTGGGTGTGGGCTTGTCCCTCGTGGACAGAACCCAGGAGGGCTTCATCCACCAAGGAAGATTGCTTTGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGGGCACCCGGAGCCAATCGCAGGGTACCCAGGTCCCGGGGGCTGTGCCACCCTCTGTGCACCCAGAGCCAATCGCAGGGGACCCAGGTCCTGAGGTCCTGGGGGCCATGCCACCCTCTGGGCACCCGCAGCCAATAGAGTCACCCTTGGGAAGCTTATGCGGACCTGGGGCAGCACTCGCGTCCTGACCCCGGTGCCGGTCCCACAGTTCGAGCCAGGGCAGTCGTACGCGGGTGTGGTGCAGTACAGCCACAGCCAGATGCAGGAGCACGTGAGCCTGCGCAGCCCCAGCATCCGGAACGTGCAGGAGCTCAAGGAGTGAGTGCCCCACGCGGCCAGGACCCTCCCACCCCTCGCCCCGACCGCTGTTCCCACGGCAGGTCGGCCCTGACCCCTGATCCCAGGTGGGCTCGGCCCCGCGGCAGGCCTGGCCCCAACCGGCCCTTCCTGCCCTTTGCTATGCAGAGCCATCAAGAGCCTGCAGTGGATGGCGGGCGGCACCTTCACGGGGGAGGCCCTGCAGTACACGCGGGACCAGCTGCTGCCGCCCAGCCCGAACAACCGCATCGCCCTGGTCATCACTGACGGGCGCTCAGACACTCAGAGGGACACCACACCGCTCAACGTGCTCTGCAGCCCCGGCATCCAGGTGGGGTGGCCACCCCCAGGCTGCACCTGCCCCGCCTAGGGCGCCCCGCCAGCCAGGGTGGCCTTGTCCCCAGAAAGACGAGGGCAGAGCAGGCTGCGCCACACCGATACTGTCTGTCCCCACAGGTGGTCTCCGTGGGCATCAAAGACGTGTTTGACTTCATCCCAGGCTCAGACCAGCTCAATGTCATTTCTTGCCAAGGCCTGGCACCATCCCAGGGCCGGCCCGGCCTCTCGCTGGTCAAGGAGAACTATGCAGAGCTGCTGGAGGATGCCTTCCTGAAGAATGTCACCGCCCAGATCTGCATAGGTGCGCATGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGTGTAGGTGCGCGCAGGCGCCCAGGGCTGTCCCAGAGGCCTCCTCCCAGCTCACTGTTACCTCCAGGGGCACGGCCACCCTGTAGGTGCGCACGGGGCCGCCTGGGGCTGTCCCACAGGCATCCTCCTCCCGGCTCGCTGTGACTTCCGGGGGCACGGCCACCCCTGTGCTCGGCCGGGAGGTCCTGTGACATCTCCTTGCGGGGTTATAGGTGGAGCAGTGGGCTCACACTGCACGGCTTTTCTCTTTTACAGACAAGAAGTGTCCAGATTACACCTGCCCCAGTGAGTACCTCGGCGGCCGGGACACGTGGGGAGGAGGGCACCGTGGTTGGGGCGAGGGCTCTGAGAGGACGGGGCTCTGGGAGGAGGGCCTGGCGGTCACGAGAGTAGGTGCATGGCTCACTCCGGTGGCTGAGCACCACCGTGCCGTGCCCTCTCTGGGGAGCTTAGACGCTCTCTGGCCGGCCCACTGCGGCTGCATCACCAGGGCCTCATGCTAACGGCTGCCCACCCCGCCCCGCAGTCACGTTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACGGCTCCGCCAGCGTGGGCAGCCACAACTTTGACACCACCAAGCGCTTCGCCAAGCGCCTGGCCGAGCGCTTCCTCACAGCGGGCAGGACGGACCCCGCCCACGACGTGCGGGTGGCGGTGGTGCAGTACAGCGGCACGGGCCAGCAGCGCCCAGAGCGGGCGTCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTGCCGTCGATGCCATGGACTTTATCAACGACGCCACCGACGTCAACGATGCCCTGGGCTATGTGACCCGCTTCTACCGCGAGGCCTCGTCCGGCGCTGCCAAGAAGAGGCTGCTGCTCTTCTCAGATGGCAACTCGCAGGGCGCCACGCCCGCTGCCATCGAGAAGGCCGTGCAGGAAGCCCAGCGGGCAGGCATCGAGATCTTCGTGGTGGTCGTGGGCCGCCAGGTGAATGAGCCCCACATCCGCGTCCTGGTCACCGGCAAGACGGCCGAGTACGACGTGGCCTACGGCGAGAGCCACCTGTTCCGTGTCCCCAGCTACCAGGCCCTGCTCCGCGGTGTCTTCCACCAGACAGTCTCCAGGAAGGTGGCGCTGGGCTAGCCCACCCTGCACGCCGGCACCAAACCCTGTCCTCCCACCCCTCCCCACTCATCACTAAACAGAGTAAAATGTGATGCGAATTTTCCCGACCAACCTGATTCGCTAGATTTTTTTTAAGGAAAAGCTTGGAAAGCCAGGACACAACGCTGCTGCCTGCTTTGTGCAGGGTCCTCCGGGGCTCAGCCCTGAGTTGGCATCACCTGCGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTAGTGTCACCTGCACAGGGCCCTCTGAGGCTCAGCCCTGAGCTGGCGTCACCTGTGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTGGCCTCACCTGGGTTCCCCACCCCGGGCTCTCCTGCCCTGCCCTCCTGCCCGCCCTCCCTCCTGCCTGCGCAGCTCCTTCCCTAGGCACCTCTGTGCTGCATCCCACCAGCCTGAGCAAGACGCCCTCTCGGGGCCTGTGCCGCACTAGCCTCCCTCTCCTCTGTCCCCATAGCTGGTTTTTCCCACCAATCCTCACCTAACAGTTACTTTACAATTAAACTCAAAGCAAGCTCTTCTCCTCAGCTTGGGGCAGCCATTGGCCTCTGTCTCGTTTTGGGAAACCAAGGTCAGGAGGCCGTTGCAGACATAAATCTCGGCGACTCGGCCCCGTCTCCTGAGGGTCCTGCTGGTGACCGGCCTGGACCTTGGCCCTACAGCCCTGGAGGCCGCTGCTGACCAGCACTGACCCCGACCTCAGAGAGTACTCGCAGGGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 320,799 |
Gene COL6A2 (collagen type VI alpha 2 chain) variant at chromosome 21, position 46115897—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Bethlem_myopathy_1A']
|
ATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGG
|
ATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGN
|
pathogenic
| 320,893 |
Variant chromosome 21, position 46116767, gene COL6A2 (collagen type VI alpha 2 chain): benign or pathogenic? Disease(s)?
|
pathogenic; ['Bethlem_myopathy_1A', 'COL6A2-related_disorder']
|
TTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGACACACACTCTGCCCTCAGCTGGCACGGAGGTTCCAGCAGCCCCCAGCCAGCATCTGGCATCCCAGGTGCCCCGTGGACATCAGGGAGGTGCAGTCCCAAGCCCGACCGTGGGTCCTGCCCCCGCAGCGGGCATCCTGCACCCCCCTTCCCCTGCCAAAAGACGTGAGGCTGATTCTGCAAACCCTTCCAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGTGAGCCCCTCTGCCTCTTCGCCTGCAGCTGAGCTGGCCACACTCACGCCCATGGCCCAGATGAACAGTCACGCTGGCCACCATCTCTGCTGTCACCATGGTGCCGCATTGGGCTCTGGGGACACGGGGAGGGACAGG
|
TTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTTCTAAATTTGGATAACAGCTGTCTAGACCAGTAGGTATCTGGATGTACTTTCTCCAGGATGAGACATCTCGAGGCTGCAGGTCAAATCCTGCCATCTCCCTCCCTGGCTTCTCCAGTCCTGGTGGCAATGCCGACCCTACTACAGCTGGGAATGAATTTGCCACTTGGGGCAGCCTTGGCTGCACACAGCAGTGCAGTGACCCGTTCTGTTGGGGGGGCCACTGGAAGCTGCCACAGGGATCACTGTGGTTAGAGTTTGAGGGGTGGCAAGGTGCCAAGCGGAGCCCAGGACAGGGCACAGCTGTGATGTTCCAGAAGCCTCTGCCCACCTCATCCCCTGCCCTGAGTTTCCTCCCTTTTCTTCCTTTTGACCTCTTAATTCTTCCCCTTTCCTCTGCTCCTCTTTGCACTTAAATTGGGAGCATATCAATAAATAGATGAATTTATTTAATAAAGTTCTGTATCATAGGTTAAAATTTTAATTCCAAGAGAGTGTAACCTTTATGTGGTGTTCTGAAGTCCTGATCTGTCTAAAGTTACTTAGATAAAGGAATTAATCTTTGTAGTGACGGTGACCCAGGCATCGCTGGAGAATCAGAGCCCAGTGTTGGCCACAGTCACAGCTACTGGGTGCAGAAGGGACCCCCACGGGCCAGGCACCCCCACCCCAGGGGTCTCTTCTGGCTCCATTTTGCAGGTGGCTTTGTGGGAAGCTTCCCTCAGAGCTGGGAGAAATGGGTCAAAGCAAACCCTTGTCTGACAGAGGCTGGCCCTTTGGGGAGCAGCTGACACCAAGACTTCTCCACTTGGGCAGGGGAATCAGTAACCTCTGCTGTGTCACCTCTCAGAGGAGCTGTGGCAGGGTCCCCAGCTGCCTACCGCCCACCCTACCCTGCCTCGATGTACTCTTTTCTCTGCTTTTAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGTGAGTGTCCTTGCCCCACGCCCGCCCCGCCTGCAGCCCAGCGCCCCAGGGCTGGGCTCACACTGCTGCGTTGTCCTTCACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGTGAGTGACCTCGGCCAGGGGCTTGGCTCCACCCTGAGGCCCCAGCACTGCCAGGCAGGCTCCCCCCAGCCCAGCCTCGGCCTCAGCCTCTACGACCCTCCCCCCAGTTACCAAGGAACAGAAGCACCTCGATAACTTGATGGCCGTCCCAAAACCCAGCCTCCAGCCCGACCCAGGGCTCAGCCTCCTCCGCAGACTGTTTGTCGAGAACACTAGATGCCAGCGGCCCACCGAGCACTCCCCTCAGCCTGCAGGGCTGGCCCTTCCCTGCCTGTGTCTCTGCAGAGCTCCTCACTAATGCCCCTCTCTCCTCCTGCCCCCAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGTGAGGCTCTTGCCCTGACAGACCTCAGACCTGCGCCAGCCTCGGCCCAGACCCACCTCTTGGCGTCCGCCGCAGCCTGTCACTGCTCCTGGGGCACCGGCCTGGTCTTTTCTCAGTGGTGGCTTTGGGGGCTCCTGGGGGGTCCTGTGGCCTTGAGTTTGGCCCAAGGGCTTTGCCCCCCAGAGGCAGCAGTGCCCATGATGCTTTGAGGCACCGAGCTCACTGCGCCGGCTTTCCTCCTACACAGGGTGAATTTGGAGCCGACGGTCGCAAGGTAGGCTGGCTGGGTAGGCAGAGCCCCTCCTTCCTGCTGCTCAGGGCAGAAGGACCGGGGCTAATGGAGTTCCCTCTTCCTTCTCTCTTCGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGTAGAGGGAGCCTCGGGCTCACAGCTGGACTGGTCTCACAGAGGCATCCCAGCCTCTGCAGGGCCCCCAGATCCAGCCTGATCTGTCAGCTTACACATGTGTACACACGCATACACACACACACACACACACACACACACACGAACTTCAGCTCCTGCCACATCCCACTGCCCCACCCAGGGCTTCACCAGCCTGCATCTAATTCATGGCTGCACATCCCGGCTTGGGGCAGCTCCACAGCTGCACACAGAGGCCAGCAACAAGCCTACCCACTCCCAGGTCAAACCACAGGACAGCCCCACCCACTCCTTCCATGGCTCCCCGTGGGAACATCCTCTGTGCCCAGGGAGCTCTGCCCTCAGGGCCTCTGGGAGGCAGCCAGGGATGGCCTGTTCCTGCACAACGGCCACTCTGCCTCCCCGGAGACAGCTCCACAGCAGCCGTGGCCTCATGTGGGCACCCGTGTGCCAGGAGGAGAGCGCTGCAGCCCTGCGGGGCAGAACCGGGTGGGCTGTGTCTTGGTCGTTGGCACACATGGACCCCAGAACCCCGCCCTGAGACTCCTCCTGCCCCCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGTAAGGGCCGTTTGCACCCCTCCTTCAGCCTCGGCCCAGGGGGTGTGGGTGCCTGACCGGGTGGGAGGGTAGTTGCTGCTGCAGTGGGAGCGTGGGTTCTCCCGGCAGCCCAGCAGCCCCAGCCCAGCAGCCCCAGCCCAGCATTCTGCCGGGTCGGAGTCATGTGAGGAACTCCCCCTGGGAGCTCCTGGCGGATCCCCGTGGCCTGGAGACCTGATGCATCCCAAACTTCGGTGTCACTGGACAGCTCCATTTCCCTGAGCAGCAGATCCAGGCCTGGCCTCTTGGTCACTGAGCCTGGGCCTCACAGTGAGGGTGGGAGGTGCGTCCCGGGCTGGGACAATGGAGCACTTGGGCCCTGGCTCATGGGGAGAACCCCACCCGCCGTGTGCCGAGCTCCACCTCTCACTCCTCTCTCAGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGTAAGTGGCCTTGTCAGGGTACGGGGCAGGCGGGGTCACCAGCTTCCAGGGGCCTCCTGGAGGCAGCCCCAGCTGAGAAGCTGAGCAGAGAGGGCCTTTCTGGAAACACTGGTCAGTGAGGAGCCAATGGCCGTGGGATGTGGTGGAGGGTGCCCTGCCCGTTGCTTCATCAGCTTCTAACCAGGGCTTGGGCGGCCCCGCCGCTGCTCACCGAGGCCTCGGCAACAAACCCACCTCCTCCCAGGTGGAGCCCCAGGGAGCCCCACCCACACCTCCTGGAGCTCCCCATGGGAACGTTGGTGCCCCAGGGGCTCTGCCCTCCTGGGCCGCCTGCAGTGTCGCCCCGCCCCTGGCGGCCCCAGGATCCCCAAGGGCTTTTTTCTGGGAGCTTGGACTTAGGGCTTCCCACTTTCTGTCCACCTTCCCTCAGCCCAAGCCCAAGTCTGGCTGAGTCCTCTGAGCAGATGCACAGGCGTCCTGCCCGTGACACACACTCTGCCCTCAGCTGGCACGGAGGTTCCAGCAGCCCCCAGCCAGCATCTGGCATCCCAGGTGCCCCGTGGACATCAGGGAGGTGCAGTCCCAAGCCCGACCGTGGGTCCTGCCCCCGCAGCGGGCATCCTGCACCCCCCTTCCCCTGCCAAAAGACGTGAGGCTGATTCTGCAAACCCTTCCAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGTGAGCCCCTCTGCCTCTTCGCCTGCAGCTGAGCTGGCCACACTCACGCCCATGGCCCAGATGAACAGTCACGCTGGCCACCATCTCTGCTGTCACCATGGTGCCGCATTGGGCTCTGGGGACACGGGGAGGGACAGGN
|
pathogenic
| 320,920 |
Determine if the mutation at chromosome 21, position 46121557 in gene COL6A2 (collagen type VI alpha 2 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Bethlem_myopathy_1A', 'Ullrich_congenital_muscular_dystrophy_1A']
|
GCCACTCACCAGACATCCAACTCCACCTGGAGCCTCCCCAGATCATTCCTAAATCCTCGGCATGGGCGGGACCGACGCAGCAGAGGGACGAGGGCTGGCAGCAGAGCCACTGGCGCAGGCTGAGGCTGTTGGGAAGGAGCCTGGGGATCGAGGTCCCAGGTCCCAAAGCCAGAGCCCTCCTGTAGAGAAGGAGCATCGGCCCCGGCACAGCCCCCACCCTCCACAGGCTCTGGGCTTGGACTCAGCCCCCTCCCTCACCCACACGCCTGTTCTCTGCAGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGTGAGTCCTCGTGTGGAGGCAGCCCAGGGTCTCACTGTGGTGCCCATGGGCCCTGCTGACGAGGGCCCCAACCCCATTCCTCCCAGAGAACAACAGAACCCCAGGGCCTCACTCTCCAGAGTTCACTCTCTGCAGAGTCTGGGAATGCAGCCCTGAGATCCCCACACCCCATTCTCTGCTGAGGAAGCTCCACTACCCACCCAGGCACACCCCGCACAGCTGTGCAGGCACCATTCACCCCCGGCCCACTGAGGCACCACTCACACCCCCCGGCCCCCACTGAGGCACCTCTTACCCCCAGCCCACTGAGGCATTGCTCACCCACGTGACCTCAGGGGTGATGCTGAAGGGCTGTGTGGTAAAACCCCGGCCACCAGCTCCCCTTGACATCAGGTGAAGGGGCTTCCTCCCAGGAAGTGGACGAGGTCCTACCCACGTGTGGGTGGCCTCAGGGGGACCGAGAGACACCGTGCTCAGAGCGGCAGCTACAGGCACCGGGAAGGAGCTATGGGTGAAACAGGCGACTGTTGCAGGTCCCCCGGGACAGACGGGGTTCTTCCTCCCAGGCCCCCTTCCCCAACCCCCGGCCACACCCGCCTCTCACATGGGACCCAGGCCGGAGGCCTCAGCTGAGACCCGTGGGGCCTCCCTTCCCTTCCCACAGGGGGACCCTGGCCCTGAGGGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGTAGGGGAGCAGGGTGGGCCGCACCCCAAGGTAGGGGATCTGAGGGGGTGCAGGGGGGCTGCACCCCAAGGTAGGGTGGCCGGGACTGCACCCCAAGGTAGGGGACCCGGGTGGGTGCTGCACCCCAAGGTAAGGGGGGCCCAGGTGAGGGCTATACCTCAAGGTAGGGGACCCAGGCGGGTGCTGCACCCCAAGGTAAGGGACCAAGGCAAGGGCTGCACCCCAAAGTAGGGGACCCAGGTGAGGGCTGCAACCCAAGATAGGGGTGCTTAGGCAGGGGCTACACCCAGAACCCAGCCTACTCCACTCAGTGTGCTCAGGGCTGAAGGTCAAGTGGAGCCACAGCCTCCGGGGAGGGTCATAGGGGCCGGGGCCAGACCCGTCTTACCCCCGAGGCCCTGCAGTGTCCACAGGATTGATACTGGGGACTCCAGGGTGCTGCTGTCAGTCAAGAGAACCCCAAATTCCTCCCCTTTCTTCCAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGTCAGTGTCAGTGCAGGAGGCCGGTGCCCTCTGACCCCACGGGTGGGTCTCCCCTATCCATGTGGGGACAGCCTGGAGCTAGCCACTGTCCCCATAGCAAACCCAGGCAGCAGAGCCTGGCCTCAGAAGCCAGGACCTGCTCCCCTAGACCCCGAGTACCTCATACCCACCCTCAGCCCCAGCCCCCCATCCTGCCCTGAAGGACCCAGGTTGTGGAGTCAGGGGCAAGGCAGTGGGCCTGAGGTCCTGGATGGGCCACAGGGAAAGGAGGAGCTGGGACCCTCAAGACAGAGGTCCACGGCCCCCACAGGCAGCAGGAGGAGCTGCGGCCATGTGGCCTGGTGGTCAGGGCTGGACGGGGCATGTCAGGTGACCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTGCCTGAGGAGCAGGACAGGGGGCCGGCCTGGGGGACCCTGTTGCCGGCAGACGTGCCTCAGGACGGGCCTGTGCCTCCTGTTCTCAGCTCTGGAGTGAGGGGATGCCTCCGGGGTCCAGGAAGCCCCCCTGGCTCTCCTCTTCAGCAGTGACCCTTGGGTGTGCATGGCACATCCTTCCTGAGGCAGGGCCTGAGGGCAGCTACGTGGCCTGAGTAGGGTCCTCCCCGCGTGTGGGCAGGCTTCGGGTCTCTAGGCACGTCCAGCCCCCACTGGAGGTGGACAGGGCGAGGTTGGCCCTGCCAGGCCTCTGCTCACAGCCAGAACTCGACGGCACCCCTAGCCCACTTCCACCCCAGTGTGCACCTTGCGCCCTGTTGAGCACAGCCCCCCAGCCCCACCCCGTCCTATGACCATGCTGACCGACTCAACGTCCTCCTCCAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGTGAGTCACAGCCTGGGATGGCAGCTCCCAGGAGTGGGTGGACATTGTCCCAAGGGCCCTGAAGATTCCTAGTAGTTCCCTCAAGGCCTCCTCTGTGCAGAAGAAAGTGTGAGGTCCCTCCTGCGGGACAGAGTGGTGAGAAGGCTTCGGGTGACTCAGTGAAGGATAGGTCCAGCCCAGCATCAGGAAAAGAGCACAGCTCAGAACGCAGCACAGTGGCCTCACCCAGAGTGTGAATGAGCGAGGGAGGGAAACGGGGCTGCAGAAAGCTGCCCAGAGGGAGGAAGGAGCACTGGGATCTGAGGCTGAGTCACCCTGGCTTCTGTTTGCTTCACAGGGAGAAAAAGGCGAGCCCGGCCCACGCGGCCCCGAGGTATGTGTGGGTCCTGGCCACCTGTGCCCACCCAGGGTGGGGGTCTGCACGCCCAATTGCTGGGAACACAATGCCCACCGTCACTGACAGGACCACCCCTGTCTTGAGATGGTCCTGGCTCCCCAAGGCCCAGCCATGTCACCTATGCTGAGCTCTGGGGGAGCTGTCAGCCACTGGCTGGTCCCTTTTCAACCAAAGTTCAGGCTTTGCAAAAAAACCACATAGATGCTCCCGTTTAAAGGACCCCAAAATGCCAGATCGATTTTTCCACATAAAAATCTCACTGGTGTCCCTGGTAGAGACAGCTCCTCTGTCCCAGGCTAACATGTGTTCCCTGTCACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAGCATCCCCCACAAGGGTCCCCTCCCTAGTGACCCCTCCACAACATCCCCCCAGAGTCCCCTCCCAGCATCCCCACTACAGCATCCCCCACCAGGGTCCCCTCCCCAGCGACCCCAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGG
|
GCCACTCACCAGACATCCAACTCCACCTGGAGCCTCCCCAGATCATTCCTAAATCCTCGGCATGGGCGGGACCGACGCAGCAGAGGGACGAGGGCTGGCAGCAGAGCCACTGGCGCAGGCTGAGGCTGTTGGGAAGGAGCCTGGGGATCGAGGTCCCAGGTCCCAAAGCCAGAGCCCTCCTGTAGAGAAGGAGCATCGGCCCCGGCACAGCCCCCACCCTCCACAGGCTCTGGGCTTGGACTCAGCCCCCTCCCTCACCCACACGCCTGTTCTCTGCAGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGTGAGTCCTCGTGTGGAGGCAGCCCAGGGTCTCACTGTGGTGCCCATGGGCCCTGCTGACGAGGGCCCCAACCCCATTCCTCCCAGAGAACAACAGAACCCCAGGGCCTCACTCTCCAGAGTTCACTCTCTGCAGAGTCTGGGAATGCAGCCCTGAGATCCCCACACCCCATTCTCTGCTGAGGAAGCTCCACTACCCACCCAGGCACACCCCGCACAGCTGTGCAGGCACCATTCACCCCCGGCCCACTGAGGCACCACTCACACCCCCCGGCCCCCACTGAGGCACCTCTTACCCCCAGCCCACTGAGGCATTGCTCACCCACGTGACCTCAGGGGTGATGCTGAAGGGCTGTGTGGTAAAACCCCGGCCACCAGCTCCCCTTGACATCAGGTGAAGGGGCTTCCTCCCAGGAAGTGGACGAGGTCCTACCCACGTGTGGGTGGCCTCAGGGGGACCGAGAGACACCGTGCTCAGAGCGGCAGCTACAGGCACCGGGAAGGAGCTATGGGTGAAACAGGCGACTGTTGCAGGTCCCCCGGGACAGACGGGGTTCTTCCTCCCAGGCCCCCTTCCCCAACCCCCGGCCACACCCGCCTCTCACATGGGACCCAGGCCGGAGGCCTCAGCTGAGACCCGTGGGGCCTCCCTTCCCTTCCCACAGGGGGACCCTGGCCCTGAGGGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGTAGGGGAGCAGGGTGGGCCGCACCCCAAGGTAGGGGATCTGAGGGGGTGCAGGGGGGCTGCACCCCAAGGTAGGGTGGCCGGGACTGCACCCCAAGGTAGGGGACCCGGGTGGGTGCTGCACCCCAAGGTAAGGGGGGCCCAGGTGAGGGCTATACCTCAAGGTAGGGGACCCAGGCGGGTGCTGCACCCCAAGGTAAGGGACCAAGGCAAGGGCTGCACCCCAAAGTAGGGGACCCAGGTGAGGGCTGCAACCCAAGATAGGGGTGCTTAGGCAGGGGCTACACCCAGAACCCAGCCTACTCCACTCAGTGTGCTCAGGGCTGAAGGTCAAGTGGAGCCACAGCCTCCGGGGAGGGTCATAGGGGCCGGGGCCAGACCCGTCTTACCCCCGAGGCCCTGCAGTGTCCACAGGATTGATACTGGGGACTCCAGGGTGCTGCTGTCAGTCAAGAGAACCCCAAATTCCTCCCCTTTCTTCCAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGTCAGTGTCAGTGCAGGAGGCCGGTGCCCTCTGACCCCACGGGTGGGTCTCCCCTATCCATGTGGGGACAGCCTGGAGCTAGCCACTGTCCCCATAGCAAACCCAGGCAGCAGAGCCTGGCCTCAGAAGCCAGGACCTGCTCCCCTAGACCCCGAGTACCTCATACCCACCCTCAGCCCCAGCCCCCCATCCTGCCCTGAAGGACCCAGGTTGTGGAGTCAGGGGCAAGGCAGTGGGCCTGAGGTCCTGGATGGGCCACAGGGAAAGGAGGAGCTGGGACCCTCAAGACAGAGGTCCACGGCCCCCACAGGCAGCAGGAGGAGCTGCGGCCATGTGGCCTGGTGGTCAGGGCTGGACGGGGCATGTCAGGTGACCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGTCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTGCCTGAGGAGCAGGACAGGGGGCCGGCCTGGGGGACCCTGTTGCCGGCAGACGTGCCTCAGGACGGGCCTGTGCCTCCTGTTCTCAGCTCTGGAGTGAGGGGATGCCTCCGGGGTCCAGGAAGCCCCCCTGGCTCTCCTCTTCAGCAGTGACCCTTGGGTGTGCATGGCACATCCTTCCTGAGGCAGGGCCTGAGGGCAGCTACGTGGCCTGAGTAGGGTCCTCCCCGCGTGTGGGCAGGCTTCGGGTCTCTAGGCACGTCCAGCCCCCACTGGAGGTGGACAGGGCGAGGTTGGCCCTGCCAGGCCTCTGCTCACAGCCAGAACTCGACGGCACCCCTAGCCCACTTCCACCCCAGTGTGCACCTTGCGCCCTGTTGAGCACAGCCCCCCAGCCCCACCCCGTCCTATGACCATGCTGACCGACTCAACGTCCTCCTCCAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGTGAGTCACAGCCTGGGATGGCAGCTCCCAGGAGTGGGTGGACATTGTCCCAAGGGCCCTGAAGATTCCTAGTAGTTCCCTCAAGGCCTCCTCTGTGCAGAAGAAAGTGTGAGGTCCCTCCTGCGGGACAGAGTGGTGAGAAGGCTTCGGGTGACTCAGTGAAGGATAGGTCCAGCCCAGCATCAGGAAAAGAGCACAGCTCAGAACGCAGCACAGTGGCCTCACCCAGAGTGTGAATGAGCGAGGGAGGGAAACGGGGCTGCAGAAAGCTGCCCAGAGGGAGGAAGGAGCACTGGGATCTGAGGCTGAGTCACCCTGGCTTCTGTTTGCTTCACAGGGAGAAAAAGGCGAGCCCGGCCCACGCGGCCCCGAGGTATGTGTGGGTCCTGGCCACCTGTGCCCACCCAGGGTGGGGGTCTGCACGCCCAATTGCTGGGAACACAATGCCCACCGTCACTGACAGGACCACCCCTGTCTTGAGATGGTCCTGGCTCCCCAAGGCCCAGCCATGTCACCTATGCTGAGCTCTGGGGGAGCTGTCAGCCACTGGCTGGTCCCTTTTCAACCAAAGTTCAGGCTTTGCAAAAAAACCACATAGATGCTCCCGTTTAAAGGACCCCAAAATGCCAGATCGATTTTTCCACATAAAAATCTCACTGGTGTCCCTGGTAGAGACAGCTCCTCTGTCCCAGGCTAACATGTGTTCCCTGTCACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAGCATCCCCCACAAGGGTCCCCTCCCTAGTGACCCCTCCACAACATCCCCCCAGAGTCCCCTCCCAGCATCCCCACTACAGCATCCCCCACCAGGGTCCCCTCCCCAGCGACCCCAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGN
|
pathogenic
| 320,968 |
Variant chromosome 21, position 46124895, gene COL6A2 (collagen type VI alpha 2 chain): benign or pathogenic? Disease(s)?
|
pathogenic; ['Bethlem_myopathy_1A']
|
CCAGGCTAACATGTGTTCCCTGTCACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAGCATCCCCCACAAGGGTCCCCTCCCTAGTGACCCCTCCACAACATCCCCCCAGAGTCCCCTCCCAGCATCCCCACTACAGCATCCCCCACCAGGGTCCCCTCCCCAGCGACCCCAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGC
|
CCAGGCTAACATGTGTTCCCTGTCACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAGCATCCCCCACAAGGGTCCCCTCCCTAGTGACCCCTCCACAACATCCCCCCAGAGTCCCCTCCCAGCATCCCCACTACAGCATCCCCCACCAGGGTCCCCTCCCCAGCGACCCCAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCN
|
pathogenic
| 321,000 |
Variant in COL6A2 (collagen type VI alpha 2 chain), chromosome 21, position 46124919—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Bethlem_myopathy_1A', 'COL6A2-related_disorder']
|
ACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAGCATCCCCCACAAGGGTCCCCTCCCTAGTGACCCCTCCACAACATCCCCCCAGAGTCCCCTCCCAGCATCCCCACTACAGCATCCCCCACCAGGGTCCCCTCCCCAGCGACCCCAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAG
|
ACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCTGTGAGTGTCACCGTCCCGAAGCCCACAGCAGCTGGGCAGAGGCAGGGAGGGGCCCTGAGGCTGAGCGTGTGCATCTATGAGTACAGGAGAACGCCAGGCAGCTTGGCCCCAGCCATGAGCACCACCCCCACCTTCCTAAAGGGAACGGCTGGCTCAGGGGCCCCCTCCCTCAACCCAGCCTCCCTTCCAGCGTCCCCTCCCCAGTGACCCCCCAACATCCCCCCCACAGCATCCCCCACAAGGGTCCCCTCCCTAGTGACCCCTCCACAACATCCCCCCAGAGTCCCCTCCCAGCATCCCCACTACAGCATCCCCCACCAGGGTCCCCTCCCCAGCGACCCCAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGN
|
pathogenic
| 321,002 |
Is the genetic mutation found on chromosome 21 at position 46125327, within the gene COL6A2 (collagen type VI alpha 2 chain), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGC
|
CAACATAGCATCCCCTCCAGAGTCCCCTCCCCCAAAAGATGCCTCCACATAGCATCCCCCTCAGAGTTCCTACACACAGCATTCCCCAAGGGTTCCCTCCCCAATGTCCTCCCCACAGTTATCCCCCAGAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCN
|
benign
| 321,009 |
Benign or pathogenic: chromosome 21, position 46125455, gene COL6A2 (collagen type VI alpha 2 chain) variant? Disease(s) if pathogenic?
|
benign
|
GAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAG
|
GAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCA
|
benign
| 321,012 |
Determine if the mutation at chromosome 21, position 46125455 in gene COL6A2 (collagen type VI alpha 2 chain) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
GAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAG
|
GAAGGTGCTCTGTGCCTCCAAATCCCTAGCCTGGCCAAGGGTTTAACCAGGGCTGCAGGTTGGTCTGGAACTGAGCACAAAACAAGGGATGGATAACGATGGATGGATGGGCAAGTGGATGGGGGTGGGCAAATGGATGGATGGGAGGATGGGTGATGGATGGATGAGTGAATAGAAGAGTGGGTGGATAGAAGATGGATGAATGGATGGATTGCTGGATGAGTGGGTGGGTGGATGGATAAGTGGATACATGGGTGAATGAGTAGATGTATGGGTGAGTAGGTGGGTAGGTGGGTAGATGGATGGGTGGGTGGGCGAGTGTGTGGTTAGATGATGGATGGCTGAATGGATGAGTGGGGGGATGGATGGGTGAGTGGGTGTATGTATGGATGGGTTAGTGGGTGGGTGGATGAATGGATGGGTGCATAAAGGATGGATGGATGAATGAGTTAGTGGGTTGGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGC
|
benign
| 321,013 |
Variant at chromosome position 46126116, chromosome 21, gene COL6A2 (collagen type VI alpha 2 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Bethlem_myopathy_1A', 'Ullrich_congenital_muscular_dystrophy_1A']
|
ACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAGGCGGGCAGCCTCTGGCCCCACAACAGTGGGCTGTGCTTCTGCCGCCAAGGTGCAGGCGTCCTCCCCCAGGGTCCACATCAGCAGCAGGGGCACCTGGACCCTGAGGGCAGGAACCAGACCTTGGCTCCTCCACCCACCCCCTCGTTCCTGATGGGGCAGGGAAGTCTCGGGACCCCATGATGGGCGACATGGCGATGGTCACTGTGGGTGCTTTGCTATCAGGTGGGGGGCCTTCCTCTCCACTCTGGGTCCAGTGTGAGTGGCCGCTATGGCTTCCCCTCCACTCCAGGTTCTATCGTGAGTGGGTGGGTGCTGCGTCTGTGGATGTCACGTGACCTTTCCTCTTTAGCCTATCATTGTAGTTGGGAGTTAGTTAGCCCGTTGAGCGTCATTGAATTTCCAGTGTTGAGCCAGCCCTGCGTGCCCGGGATAAACCCACCTGGCCGTGGTGTGTGGCCCTGTTTATGCACGTGGGCCCTGATTCGCTGATGCCTGCCTGAGGGTTTGCGCTTATCGGCGACATCAGCCTGCACTTTTCTTTTCTCGTGATCTCTCTGGTTCTGGCCTCAGGGTGACGTGGGCCTCGTAGGGTCCTGTGGTGGCTCCTCCCCAGACGGTGACATGGAGTGAGCCCATTCTCCCTCCTGGGAGTGGGTCACTC
|
ACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAGGCGGGCAGCCTCTGGCCCCACAACAGTGGGCTGTGCTTCTGCCGCCAAGGTGCAGGCGTCCTCCCCCAGGGTCCACATCAGCAGCAGGGGCACCTGGACCCTGAGGGCAGGAACCAGACCTTGGCTCCTCCACCCACCCCCTCGTTCCTGATGGGGCAGGGAAGTCTCGGGACCCCATGATGGGCGACATGGCGATGGTCACTGTGGGTGCTTTGCTATCAGGTGGGGGGCCTTCCTCTCCACTCTGGGTCCAGTGTGAGTGGCCGCTATGGCTTCCCCTCCACTCCAGGTTCTATCGTGAGTGGGTGGGTGCTGCGTCTGTGGATGTCACGTGACCTTTCCTCTTTAGCCTATCATTGTAGTTGGGAGTTAGTTAGCCCGTTGAGCGTCATTGAATTTCCAGTGTTGAGCCAGCCCTGCGTGCCCGGGATAAACCCACCTGGCCGTGGTGTGTGGCCCTGTTTATGCACGTGGGCCCTGATTCGCTGATGCCTGCCTGAGGGTTTGCGCTTATCGGCGACATCAGCCTGCACTTTTCTTTTCTCGTGATCTCTCTGGTTCTGGCCTCAGGGTGACGTGGGCCTCGTAGGGTCCTGTGGTGGCTCCTCCCCAGACGGTGACATGGAGTGAGCCCATTCTCCCTCCTGGGAGTGGGTCACTCNN
|
pathogenic
| 321,034 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 21, position 46126123, gene COL6A2 (collagen type VI alpha 2 chain). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Bethlem_myopathy_1A']
|
GATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAGGCGGGCAGCCTCTGGCCCCACAACAGTGGGCTGTGCTTCTGCCGCCAAGGTGCAGGCGTCCTCCCCCAGGGTCCACATCAGCAGCAGGGGCACCTGGACCCTGAGGGCAGGAACCAGACCTTGGCTCCTCCACCCACCCCCTCGTTCCTGATGGGGCAGGGAAGTCTCGGGACCCCATGATGGGCGACATGGCGATGGTCACTGTGGGTGCTTTGCTATCAGGTGGGGGGCCTTCCTCTCCACTCTGGGTCCAGTGTGAGTGGCCGCTATGGCTTCCCCTCCACTCCAGGTTCTATCGTGAGTGGGTGGGTGCTGCGTCTGTGGATGTCACGTGACCTTTCCTCTTTAGCCTATCATTGTAGTTGGGAGTTAGTTAGCCCGTTGAGCGTCATTGAATTTCCAGTGTTGAGCCAGCCCTGCGTGCCCGGGATAAACCCACCTGGCCGTGGTGTGTGGCCCTGTTTATGCACGTGGGCCCTGATTCGCTGATGCCTGCCTGAGGGTTTGCGCTTATCGGCGACATCAGCCTGCACTTTTCTTTTCTCGTGATCTCTCTGGTTCTGGCCTCAGGGTGACGTGGGCCTCGTAGGGTCCTGTGGTGGCTCCTCCCCAGACGGTGACATGGAGTGAGCCCATTCTCCCTCCTGGGAGTGGGTCACTCAGGCCAC
|
GATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGGATGAATGGATGGGTTAGTGGGTGGCTGGGTGGATGGATGATGGATGGGTGACTGGGTGGATGGATGGATGGGTTAGTGGGTGGCTGGGTGGATAGATGGATGGGTGATTGGGCGAATGGGCGAATGGGTGGATGGGTGGGCGTGGAGTTGGTGGGTACATGATAATGGGGTGGAATACCCATGGATTGGAATGAGCTGTTTTGGCTGCTATTTCTGGGACACCCAGCTCTGCCAGGCCCCTACCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAGGCGGGCAGCCTCTGGCCCCACAACAGTGGGCTGTGCTTCTGCCGCCAAGGTGCAGGCGTCCTCCCCCAGGGTCCACATCAGCAGCAGGGGCACCTGGACCCTGAGGGCAGGAACCAGACCTTGGCTCCTCCACCCACCCCCTCGTTCCTGATGGGGCAGGGAAGTCTCGGGACCCCATGATGGGCGACATGGCGATGGTCACTGTGGGTGCTTTGCTATCAGGTGGGGGGCCTTCCTCTCCACTCTGGGTCCAGTGTGAGTGGCCGCTATGGCTTCCCCTCCACTCCAGGTTCTATCGTGAGTGGGTGGGTGCTGCGTCTGTGGATGTCACGTGACCTTTCCTCTTTAGCCTATCATTGTAGTTGGGAGTTAGTTAGCCCGTTGAGCGTCATTGAATTTCCAGTGTTGAGCCAGCCCTGCGTGCCCGGGATAAACCCACCTGGCCGTGGTGTGTGGCCCTGTTTATGCACGTGGGCCCTGATTCGCTGATGCCTGCCTGAGGGTTTGCGCTTATCGGCGACATCAGCCTGCACTTTTCTTTTCTCGTGATCTCTCTGGTTCTGGCCTCAGGGTGACGTGGGCCTCGTAGGGTCCTGTGGTGGCTCCTCCCCAGACGGTGACATGGAGTGAGCCCATTCTCCCTCCTGGGAGTGGGTCACTCAGGCCA
|
pathogenic
| 321,035 |
Evaluate if the mutation on chromosome 21 at position 46126476 in COL6A2 (collagen type VI alpha 2 chain) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
CCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAGGCGGGCAGCCTCTGGCCCCACAACAGTGGGCTGTGCTTCTGCCGCCAAGGTGCAGGCGTCCTCCCCCAGGGTCCACATCAGCAGCAGGGGCACCTGGACCCTGAGGGCAGGAACCAGACCTTGGCTCCTCCACCCACCCCCTCGTTCCTGATGGGGCAGGGAAGTCTCGGGACCCCATGATGGGCGACATGGCGATGGTCACTGTGGGTGCTTTGCTATCAGGTGGGGGGCCTTCCTCTCCACTCTGGGTCCAGTGTGAGTGGCCGCTATGGCTTCCCCTCCACTCCAGGTTCTATCGTGAGTGGGTGGGTGCTGCGTCTGTGGATGTCACGTGACCTTTCCTCTTTAGCCTATCATTGTAGTTGGGAGTTAGTTAGCCCGTTGAGCGTCATTGAATTTCCAGTGTTGAGCCAGCCCTGCGTGCCCGGGATAAACCCACCTGGCCGTGGTGTGTGGCCCTGTTTATGCACGTGGGCCCTGATTCGCTGATGCCTGCCTGAGGGTTTGCGCTTATCGGCGACATCAGCCTGCACTTTTCTTTTCTCGTGATCTCTCTGGTTCTGGCCTCAGGGTGACGTGGGCCTCGTAGGGTCCTGTGGTGGCTCCTCCCCAGACGGTGACATGGAGTGAGCCCATTCTCCCTCCTGGGAGTGGGTCACTCAGGCCACCAGAGCACCACAGGGAAAGCAGCCAGGGAGGACACGGAGGCCCTTGAAGCTCTGGCCTCTTCTGAGGCCTCCAGGACCTGACAGTGAGTGGGAGCAGCCCTGGCAGAACCCCTCCCCTCCTCTCGGCCGCCCTGACACCTCATCCCCGACACTCAGAGCTCATCCTCCTTCCCAGCTGTTTCCAATTTCAAAGTGAACTCGACCTTGTGGCTCCAGGAGATGCAGCAGGGACAGTGTTAAATCGGCTTTCACCAGCCCACACGGCCAGGCATCCTCCTCGGCCCTCCTGGGCACTGGGTGGACACCACTGGCTGTGGCCTGGCCCTGGCCTTCTCCAGACAGCCCTGTCCACC
|
CCCCTCTGGTGGGCCAGGCTCTGACGGTGGCCACTCATGGCCTTTCTAGCTCTGGTGCCAGCATAGGGAAGGAGGAGGCACAGCCTTGTCTTACTCCTTGCACCTGTTAGCCCCCCCCCCCGCCAAGGGAGGACCCGTGGTTGGGGACAGCACAGGGGGCCCTGCTGTGTGCAGGGACTGTCCCTGGGGCCACTGAAGCCCACCTGTTCTTGTTCCTTCTCAGGCGGATCCTGGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAGGTAGGTTGGTGGCCAGTCCCCATGCCCTCCCCCCAACCTGCCAGGCCAACACACACCCAAGCCTCGTGGTTCTGCCCACGGTGGACCCACGTATCAGTGGGCAGTGGCCTGGGAGAGACTCAGCCACCCAGCCTTGGCCCCAGAGTCTCAGCCTCATCCTTCCTTCCCCAGGGTGAGCCCGGCCCCCCTGGAGACCCCGGTCTCACGGTAGGTGTCACATGGGGCAGAACCAGTGTCCTTCTCCTGCCAAAACTAGACACCAAGAGCAGCAGGGGTGGGGGAAGGTCAGCTGGCACGGTCAGAGAGCAAGATCAGTGGAGGAGGTCAGAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCACAGGGCAAGGTTGGTGGGGGGAGGAGGGTGGCAGCGAGGTTGGTAGGGACAGGACCCGCCAGCCTCCCCGCATGGCTGCCTCCACACGTGGGCTGGAATGTCCCGGGACCCCCAGGCCAGGACCTTGCTGTGGAAACTCTTCTGGGGCCCCGGGGGGACTACCCTGCCTGCCGTGTGCATTGCAGGAGTGTGACGTCATGACCTACGTGAGGGAGACCTGCGGGTGCTGCGGTGAGGCACTGCCCACGGCAGGGTCGGGGCCCATGCACCGGGTGGAGGGCGGGAGTGCAGCAGGGCTGGGTCATCGCTGGGTCCTGCATGTGCACGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCGATGACCCTGCCACCCCCCCAGACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATCGACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAACGTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAGGTCAGCGGGGCAGGGGCGGGTGCAGCATTGCGGGGGGCCGGGCGGGGCGTGGGAGGCGATGAGATGGGAGAAGTCCAGACGCGTCCCTCCAACGAGGGCCTCTGCATGGCTGGGGATGCCCCAGACCCCGAGGCCTCTGGCAACGACCTCACGCGTGCGGCTTGCAGGGACGCGTGTGGGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGTATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGATGACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGGGACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCACAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGACATGGAGGACGTCCTCTGCCCGGGTGAGCGTGTGGGCGCGGGGCAGTCGGCCGAGGAGCAGCAGGCCCCAGCCGCTGTCTAGCGTGAGCCCCAGGGACACCCCTCACCTGAGGGATGAATGTGCAGCCCAGGATCTTGGGCTGTGGGTGGGAAGGGGTCGGGCCCTCTCGGGGCTGCAGGGCAGAGGCCAGCTGCACCCTGAGCCTGTCTAGGCAGATCAGTGAACGGCCGCTGAGGGTTCGCTAGGGACTGACCCTGGCCTGGCCCGGCCCGGCCCGGCCCGGCCCGGCCTCTCTCCTCTCTTCCAGACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGAGCCACCACCCCAGACTAGCAAAGCAGCCCTGGTGTCCTTCCTCCTCGAGGGCCGGGCTGGGGGAGGGGCCGTGCAGGGACCCGGGGGGCGGCGGAGCCACTGCGGAGGCTGCTCCTTAGGGAGATGGCCCCAGGATGGCAGCACAGGGGAGGAGGGGCTTGGGGAAGGCAGGCTCCCAGGAACGCAGGAACAGCATCACGAGGCCATGAGGTGGGTGCTGCTAGCCTGGCGCTGTGCTCGGCATGTGGCCACTGGTCTTGAAGGCCCACCATGGGCCTTGCAGTCTCCCTCAGCTGCCGCCCAGCTCCCATGGGCTGGCCGTGCATGTGCCACTCGGAGGAAGCCCTGGATTCAGTGAGTGAAACCATCCCGGGGTGGAAGCACTGACACCCCCCAGCACCAGCAGGTCTTGCTCCAACCCTGGCCTGCCTCGGAGCTGCAGCTGCGGCTCTCACATCTCTGGGAGTGGGGGAGCCCATGTCCCGGATGTGGCCCACGTGGGTGTGAAGCTGGAGCTGGGGGTGCCGTCCAGGCTCTGCTGGACGTGGTGCTGCCCCCATGGTGCACTGCTGCACCGTACCTGGGCCCACAGGAGGTCCCCGGGGGCGTTAGGAGCTGAGTCCCCCTCAGTGAGCCGTCCCCTCCAGGAGTGTGAGGGTAGGGATGCCATGGAGACAGGGTGGGAGGGTCCGACCTGGAGGACCACAGGGAGGAAACCTCAGGGTCTGCGGTACGAAGTCAGCGCTTCCTCAGCACGCGGGTCGCGGTGTGCGTTCGGGCGTTCCATGGGGAGCTCCCGGTGGGTGAGCTGGGCCACTGAGCACATTCACAGGCCCTGAGGCTGCCCCAGGGGAGGAGCCGTGGACTCAGAGCCGAGGTTCCCCATACGTGCTGCGACAGAGAACCTAGGGCTTGCACCTGGGTCTGGCTGCCCTTCAGCAGGCGGGCAGCCTCTGGCCCCACAACAGTGGGCTGTGCTTCTGCCGCCAAGGTGCAGGCGTCCTCCCCCAGGGTCCACATCAGCAGCAGGGGCACCTGGACCCTGAGGGCAGGAACCAGACCTTGGCTCCTCCACCCACCCCCTCGTTCCTGATGGGGCAGGGAAGTCTCGGGACCCCATGATGGGCGACATGGCGATGGTCACTGTGGGTGCTTTGCTATCAGGTGGGGGGCCTTCCTCTCCACTCTGGGTCCAGTGTGAGTGGCCGCTATGGCTTCCCCTCCACTCCAGGTTCTATCGTGAGTGGGTGGGTGCTGCGTCTGTGGATGTCACGTGACCTTTCCTCTTTAGCCTATCATTGTAGTTGGGAGTTAGTTAGCCCGTTGAGCGTCATTGAATTTCCAGTGTTGAGCCAGCCCTGCGTGCCCGGGATAAACCCACCTGGCCGTGGTGTGTGGCCCTGTTTATGCACGTGGGCCCTGATTCGCTGATGCCTGCCTGAGGGTTTGCGCTTATCGGCGACATCAGCCTGCACTTTTCTTTTCTCGTGATCTCTCTGGTTCTGGCCTCAGGGTGACGTGGGCCTCGTAGGGTCCTGTGGTGGCTCCTCCCCAGACGGTGACATGGAGTGAGCCCATTCTCCCTCCTGGGAGTGGGTCACTCAGGCCACCAGAGCACCACAGGGAAAGCAGCCAGGGAGGACACGGAGGCCCTTGAAGCTCTGGCCTCTTCTGAGGCCTCCAGGACCTGACAGTGAGTGGGAGCAGCCCTGGCAGAACCCCTCCCCTCCTCTCGGCCGCCCTGACACCTCATCCCCGACACTCAGAGCTCATCCTCCTTCCCAGCTGTTTCCAATTTCAAAGTGAACTCGACCTTGTGGCTCCAGGAGATGCAGCAGGGACAGTGTTAAATCGGCTTTCACCAGCCCACACGGCCAGGCATCCTCCTCGGCCCTCCTGGGCACTGGGTGGACACCACTGGCTGTGGCCTGGCCCTGGCCTTC
|
benign
| 321,046 |
Does the variant on chromosome 21 at location 46131945 affecting gene COL6A2 (collagen type VI alpha 2 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
CAGCTGGGCTGCCGTGCGTCTGGGATGGGGCTGAGGGAGGGTGCTGCCCAGGTGCTGGAGGATGTTCCAGCACCAGGTTCCAGCGGAGCCTCGGAAACAGGCCCCAGAGGCTGGTGAGCCTCGCTGGGTGTGGGCACTAATCCCGTGCATGGTGACTCGTGGGCGCTCACGGCCCACCTGGTGGCAGGTGAAGGCTTCCGGTTGGGCAGCAGATAGTCCTGGGGGAAGCTGGCAGTCCTGGCACCATGACGTATCTGGGCTGGTGTCATGCACAGTAGGGCGAATGGCCACAGCTGCCTGCCAGCAGCCCTGATCCCGGGGTGTCTGCACCCTTCCAGCCCAACCTCTGGGTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTGACCCCGACGTTCTGACTGCAGGAGCCCTCATCCAGGCTGGGCTCCTGCCGGGCACGGCTGTGACCATTTCTCAGGGCCAGGTTCTCGTCCCCACACCCACTGCACAGGGCAGGCCAGGCTGGTCTTCCCACTGTGGGGATGAAGGATCCTCCACAGGAGGAGGAGAGCAGAGTCCACAGACATCCCAACAGCCTCAGCCTCCCTGTGCCTGGCCGGCCCCCACAGCTTCCCCGTCTCCTCCAGGCCCCACAGACACTGATGAATGGACAGAGACCCCCAAAACCAGCTGCCCCTTGCATGTCTGTCTCCATATGTTTGGTGACAGCAGTGAAAATGTTATTAGTTTTGAGGGGGTTTGGGAAGCCCAGCGGTACCTGAGGAGTTTCTGGACATTTAAGCCGGTTCCTAGGTGTGGCCTTAACAGGGAGGCTGCCCTTCCTTTCACTGAATGAGCTGCGTCACTCATAAGCTCACTGAGGGAACCCCATCTGCCAGCTCGTGCGTGCTCAGACGGCGTCCATGTCTCAAGCGTTCTGTGAAGGCTGCGGTGCAGCGTGAGGTCACCCTGCTGTGTTCAGAGCTTTGCTCACTGCCTGCGGGGCTGGACCGTTGCACCTCCAGGGCCCCCAGAAACCGAGTTTCGGGTCAGGGTCCTCTGTGTGCATTCCTGGGGGTCCATGTACCAGCTGTGACGACGTCCAGGGGTTGGGCTGAGAAGCAGACACCCTTGGGGAAACTGGCTCTGTCCCTCCCCTCCCCCATCCCAGGAGCTGAGGTCTTGGTGAGGCCACAGGGCCAGGTCCACGCAAGGACTGTCCGTGTCCTGTCCTGTGGTCTCTGGCCCCACGTGACACCCACACGTGTGGTAGGCAGCCTGGCCTGGGTTGTGGCTATGGCCAGGCCCCCAAGCTGTCCCCGATGCCCAGGGCTGGTGACCACCCAGGCAGGTGGGGGCCCCACTTGGTAACAGAGTCATAGGGCAGAACCCACCTGGGCTGCCACAGAAGGTCTGGCTGCCCCTGTGCCCACTGCTCCCCACCATGGCCAATCAGAAGAGTCAGGGGCTCCTGGTCTTTCCGGGAGGGACGTGGCCCAGCCAGCTCTAGGTGTTCTGAGCAGCTCTGGGACCCAGCGATTGAGGGGTCAGGCTGGGGGTGTCAGAGCCAGGGTCCTCCTTAAGTACCTCCCACACTACACAGACAGTGGCCCTTTTGTGGGCAGCAAATTCTTGAGCCATGAAAGGATGCTTTGGGCCCCTTCCCTCCCAGGAGGGCAGCCTGTGCAGGGATGGTGCTCAGCAGGTGGACAGGGCCTGGGGCCTGTGTCAGGGTCTCAGGCCTGGGAGCACCAGCAGAGGAGATGGCGGCTCCCAGCAGTGCCGCCTGAAAGTGTCTTGGGCTAAGGACCCACACCCAGGGCTGCCCTGCAGAAACGCCCCCGCAGAGCCCAGTGGTCTGTGAGGTTGCAGGCAGGGTGCGAATGGAAGGGCACAGGTGCGGGGCTGGCACCTGCCCGGTCCTGCCCACCTCCCCTCCGCCCAGCCCGCACCTGCGTCTCCCCACAGAGCTGTCCGTGGCACAGTGCACGCAGCGGCCCGTGGACATCGTCTTCCTGCTGGACGGCTCCGAGCGGCTGGGTGAGCAGAACTTCCACAAGGCCCGGCGCTTCGTGGAGCAGGTGGCGCGGCGGCTGACGCTGGCCCGGAGGGACGACGACCCTCTCAACGCACGCGTGGCGCTGCTGCAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACCTCACGGCCATCCACGAGGCGCTGGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCGCAGGCGTGGTGCACGCCATCAATGCCATCGTGCGCAGCCCGCGTGGCGGGGCCCGGAGGCACGCAGAGCTGTCCTTCGTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCACGAGTCGGCGCACTCCATGCGCAAGCAGAACGTGGTACCCACCGTGCTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGCACCTCTCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCGGCCCCCGCCCAGCCCCAGGTCTCCCCAGGCCCTCCGCAGGCTGCCCGGCCTCCCTCCCCCTGCAGCCATCCCAAGGCTCCTGACCTACCTGGCCCCTGAGCTCTGGAGCAAGCCCTGACCCAATAAAGGCTTTGAACCCATTGCGTGCCTGCTTGCGAGCTTCTGTGCGCAGGAGAGACCTCAAAGGTGTCTTGTGGCCAGGAGGGAAACACTGCAGCTGTCGCTCGCCCACCAGGGTCAATGGCTCCCCCGGGCCCAGCCCTGACCTCCTAGGACATCAACTGCAGGTGCTGGCTGACCCCGCCTGTGCAGACCCCACAGCCTTGATCAGCAAACTCTCCCTCCAGCCCCAGCCAGGCCCAAAGTGCTCTAAGAAGTGTCACCATGGCTGAGGGTCTTCTGTGGGTGGACGCATGATTAACACTAGACGGGGAGACAGCAGGTGCTGAGCCTGTTGTGTTCTGTGTGGAGATCTCAGTGAGTTTTTGCTGTTCAGACCCCAGGGTCCTTCAGGCTCAGCTCAGGAGCCCCACAGTGAACCAGAGGCTCCACAGGCAGGTGCTGACCTGACAGGAGTGGGCTTGGTGGCCATCACAGGGCACCACAGACACAGCTTGAACAACTACCAGTATCGGCCACAGGCCTGGAGGCATCAGCCGGGCCATGCTTCCTCTGGAGGGCTAGAGGAGGACTAGAGAAGGGCCTGCCCCGGCCTCTCCCCAGCATCCCAGGGTTCCTGATCTCCTGGATAAGGATACAAGTCACCACACTGGACTGGGGCTCAGCCTGCTCTAGAATACCTCACCTAAGTCACAGTGGACCAGGCTCAGCCTGCTCTAAGGTGAGCTTACCCGAGACACTGGACCAGAGATCAGCCTATCCTGGGATAAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCTAGGATGAGCTCACCCAAATCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTAAGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGGTGAGCTCACCCGAGACACTGGG
|
CAGCTGGGCTGCCGTGCGTCTGGGATGGGGCTGAGGGAGGGTGCTGCCCAGGTGCTGGAGGATGTTCCAGCACCAGGTTCCAGCGGAGCCTCGGAAACAGGCCCCAGAGGCTGGTGAGCCTCGCTGGGTGTGGGCACTAATCCCGTGCATGGTGACTCGTGGGCGCTCACGGCCCACCTGGTGGCAGGTGAAGGCTTCCGGTTGGGCAGCAGATAGTCCTGGGGGAAGCTGGCAGTCCTGGCACCATGACGTATCTGGGCTGGTGTCATGCACAGTAGGGCGAATGGCCACAGCTGCCTGCCAGCAGCCCTGATCCCGGGGTGTCTGCACCCTTCCAGCCCAACCTCTGGGTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTGACCCCGACGTTCTGACTGCAGGAGCCCTCATCCAGGCTGGGCTCCTGCCGGGCACGGCTGTGACCATTTCTCAGGGCCAGGTTCTCGTCCCCACACCCACTGCACAGGGCAGGCCAGGCTGGTCTTCCCACTGTGGGGATGAAGGATCCTCCACAGGAGGAGGAGAGCAGAGTCCACAGACATCCCAACAGCCTCAGCCTCCCTGTGCCTGGCCGGCCCCCACAGCTTCCCCGTCTCCTCCAGGCCCCACAGACACTGATGAATGGACAGAGACCCCCAAAACCAGCTGCCCCTTGCATGTCTGTCTCCATATGTTTGGTGACAGCAGTGAAAATGTTATTAGTTTTGAGGGGGTTTGGGAAGCCCAGCGGTACCTGAGGAGTTTCTGGACATTTAAGCCGGTTCCTAGGTGTGGCCTTAACAGGGAGGCTGCCCTTCCTTTCACTGAATGAGCTGCGTCACTCATAAGCTCACTGAGGGAACCCCATCTGCCAGCTCGTGCGTGCTCAGACGGCGTCCATGTCTCAAGCGTTCTGTGAAGGCTGCGGTGCAGCGTGAGGTCACCCTGCTGTGTTCAGAGCTTTGCTCACTGCCTGCGGGGCTGGACCGTTGCACCTCCAGGGCCCCCAGAAACCGAGTTTCGGGTCAGGGTCCTCTGTGTGCATTCCTGGGGGTCCATGTACCAGCTGTGACGACGTCCAGGGGTTGGGCTGAGAAGCAGACACCCTTGGGGAAACTGGCTCTGTCCCTCCCCTCCCCCATCCCAGGAGCTGAGGTCTTGGTGAGGCCACAGGGCCAGGTCCACGCAAGGACTGTCCGTGTCCTGTCCTGTGGTCTCTGGCCCCACGTGACACCCACACGTGTGGTAGGCAGCCTGGCCTGGGTTGTGGCTATGGCCAGGCCCCCAAGCTGTCCCCGATGCCCAGGGCTGGTGACCACCCAGGCAGGTGGGGGCCCCACTTGGTAACAGAGTCATAGGGCAGAACCCACCTGGGCTGCCACAGAAGGTCTGGCTGCCCCTGTGCCCACTGCTCCCCACCATGGCCAATCAGAAGAGTCAGGGGCTCCTGGTCTTTCCGGGAGGGACGTGGCCCAGCCAGCTCTAGGTGTTCTGAGCAGCTCTGGGACCCAGCGATTGAGGGGTCAGGCTGGGGGTGTCAGAGCCAGGGTCCTCCTTAAGTACCTCCCACACTACACAGACAGTGGCCCTTTTGTGGGCAGCAAATTCTTGAGCCATGAAAGGATGCTTTGGGCCCCTTCCCTCCCAGGAGGGCAGCCTGTGCAGGGATGGTGCTCAGCAGGTGGACAGGGCCTGGGGCCTGTGTCAGGGTCTCAGGCCTGGGAGCACCAGCAGAGGAGATGGCGGCTCCCAGCAGTGCCGCCTGAAAGTGTCTTGGGCTAAGGACCCACACCCAGGGCTGCCCTGCAGAAACGCCCCCGCAGAGCCCAGTGGTCTGTGAGGTTGCAGGCAGGGTGCGAATGGAAGGGCACAGGTGCGGGGCTGGCACCTGCCCGGTCCTGCCCACCTCCCCTCCGCCCAGCCCGCACCTGCGTCTCCCCCACAGAGCTGTCCGTGGCACAGTGCACGCAGCGGCCCGTGGACATCGTCTTCCTGCTGGACGGCTCCGAGCGGCTGGGTGAGCAGAACTTCCACAAGGCCCGGCGCTTCGTGGAGCAGGTGGCGCGGCGGCTGACGCTGGCCCGGAGGGACGACGACCCTCTCAACGCACGCGTGGCGCTGCTGCAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACCTCACGGCCATCCACGAGGCGCTGGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCGCAGGCGTGGTGCACGCCATCAATGCCATCGTGCGCAGCCCGCGTGGCGGGGCCCGGAGGCACGCAGAGCTGTCCTTCGTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCACGAGTCGGCGCACTCCATGCGCAAGCAGAACGTGGTACCCACCGTGCTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCGGGCCCCGCAGTCGAGGGTCGTGAGCCCACCCCGTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCACCGCTGCTCACTCGGACGACGCCCTGGGCCTGCACCTCTCCAGCTCCTCCCACGGGGTCCCCGTAGCCCCGGCCCCCGCCCAGCCCCAGGTCTCCCCAGGCCCTCCGCAGGCTGCCCGGCCTCCCTCCCCCTGCAGCCATCCCAAGGCTCCTGACCTACCTGGCCCCTGAGCTCTGGAGCAAGCCCTGACCCAATAAAGGCTTTGAACCCATTGCGTGCCTGCTTGCGAGCTTCTGTGCGCAGGAGAGACCTCAAAGGTGTCTTGTGGCCAGGAGGGAAACACTGCAGCTGTCGCTCGCCCACCAGGGTCAATGGCTCCCCCGGGCCCAGCCCTGACCTCCTAGGACATCAACTGCAGGTGCTGGCTGACCCCGCCTGTGCAGACCCCACAGCCTTGATCAGCAAACTCTCCCTCCAGCCCCAGCCAGGCCCAAAGTGCTCTAAGAAGTGTCACCATGGCTGAGGGTCTTCTGTGGGTGGACGCATGATTAACACTAGACGGGGAGACAGCAGGTGCTGAGCCTGTTGTGTTCTGTGTGGAGATCTCAGTGAGTTTTTGCTGTTCAGACCCCAGGGTCCTTCAGGCTCAGCTCAGGAGCCCCACAGTGAACCAGAGGCTCCACAGGCAGGTGCTGACCTGACAGGAGTGGGCTTGGTGGCCATCACAGGGCACCACAGACACAGCTTGAACAACTACCAGTATCGGCCACAGGCCTGGAGGCATCAGCCGGGCCATGCTTCCTCTGGAGGGCTAGAGGAGGACTAGAGAAGGGCCTGCCCCGGCCTCTCCCCAGCATCCCAGGGTTCCTGATCTCCTGGATAAGGATACAAGTCACCACACTGGACTGGGGCTCAGCCTGCTCTAGAATACCTCACCTAAGTCACAGTGGACCAGGCTCAGCCTGCTCTAAGGTGAGCTTACCCGAGACACTGGACCAGAGATCAGCCTATCCTGGGATAAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCTAGGATGAGCTCACCCAAATCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTAAGTCACACTGGACCAGGGCTCAGCCTGCTCTAAGGTGAGCTCACCCGAGACACTGG
|
benign
| 321,063 |
The mutation in gene FTCD (formimidoyltransferase cyclodeaminase) at chromosome 21, position 46138498—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GAGGCTATCCTTCCAGCGTCGAAGGTCCTGCTGTCCCTGGGGTTTCTGTCCCATGCACAGAACCAGGGCCCCTTTCCCTCAGACAAGGGGCCTCACAGCCCAGGGACCTGCACTGAACCCCAGGTCCTCTGAATACCTGTGACCCTGCCCACTGTGGGCTGCACTGGGTGTCTGGGGACCCTGGCGCTGAGGTCTGTCTCCTCACGCTGCAACCCCATTCCCTCCAACCCTGGCTCCCATGGGCCACTGACCATATGTCCTGCTCCTGCCCCAAGACCCGCAGCTCAGCTCTCAGCCCTGCCCCCAAAACCGCCAACACACAACACAGGTTTGGTGCCAAAACTTTACTGGAGGTCACATGGGACTAGGGGCCTTCTGTCCCTGCCAGCGCCTCCATTCCCAGGCGATGCCCCGCTGCCTGCCCACCTACCCTCCGGGCCCCACACGAACAAGCTGTGTCCCCACCGAGGTCACAGCTCTGCCCTCTGGGGATGGGCGAGGGAGGGGCCACAGAGCCCGGAGAGGCCTCCCGCACCGTCACTCCTGCCGGGTCTCCAAGCAGTCCAGCACCAGTGCAGCCTGGGTCTTGGCTTCCTGCAGGAGGCTGGAAACACGATGGTGGATCTGATGGACACAGGGAAAGAGGGGTCTGGTAGTTCCAGTCTTCAGCCCAGCTTGCTGGGCAGCAACCTCCGACCCCCACTGCCCACAGCCAGTCGGCAATCACCCTGAGGCTGTGAATCCAGGCCCCCACGTGGGGTCCGGGCACCACACCTGCCTCCTGCTCACCTGGTCCTTAAATGCCTCGTCTGTGATGTCCCTCAGGTTGATGAGCACGTTGAAATATGCGCCAAACACGCCCATCTCCAGGGCTTTGGCCGCCACCTGCAAGGACCCCAGGGAGCCCCTACATGGATCAAGGCTGAGCAAACTGCCGGAAGGAGGGTCTCTGCCTGACGGGCTCTGGGACAGGCCGGACTTCGTCCTCCTCCTCACAAGGAGCCCAGCGCAGCCCCCGCTTTCGCCCCACAGAGGGCTAAGCCCCACCACTGAGCTTAGAAAACAAAACTTTCTCTTATCCAAGCAGGGCTCAGCCCCACAGGAGGCCTGGGAGCAGTCACACTGGAGGCTCTCCGCCACTCTAGGAACCAGGACCACAGTTCTAGAGACAAAGTCATCCCCTGGAGGGCCCCCGGAGGCAGCTTCAGGCTAACGGCCCGCCCACTGCCCAGGGACACTTCCCAGGGACTGAGGGGACACTTCTCTGGGACCAGATGCTGAAAAGAGGCGTCTTTCCTATAAAGAACCCGAAGACCATGAGGTCTTAGGGCAGCTGCAGAAAGTGCTGAGCCCATGAGAGAGACGCTCCTTCTCTGGGACCCTCTGCCCAGCTGTGGCCCCTGTCAGTGTGAGGCATCTACTTCCAAGAGCTGCCTTGTGTGCTTTCTCGTGTTTTGTTGTTTTTGACCCAGGGTCTTGCTCTGTCACCAAGGCTGGAGCGCAGTGGTGTGATCACGGCTCACTGCAGCCTTGACCTCCTGTGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCACCACCGTGCCTGGCTCATATGTATCTATTGTACAGCCAGGGTCCCACTATGTTGCCCAGGCTGGTCTCGACCTCCTCTATTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGACCACAGGCGAGAACCATTGTGCCTGGGCTGACATAGGTGTTTTCTAGAACAAGACAGTGGGGGTGATACAAGGGGTCTTGGGGGAGTATACACTTATACAGTGGTCAGGGTGGGCTCTGCAGACACATTTGGGTCTCCGTCTGTGGTGCCGCCGTGAGCGAGATCTTAGAAGGCAGCGGACACCCCGGCCCTGTTGGAGGAGGCCAAAGCCCCGGGAACTGCCCGTGAAGTGAGGTCTCCCTACCTGGCTCAGCCCAGCCAACCACCGTGCTCTCCAGCAACTCAGCCCCAACAGCTGCTTCCTGCTTTGCGGCAGGAGGCCTGGGGTCCCCCGGGCCCCCCTACCTGGAGGTCTGACCGGCAGGCCAGGTTCCCACACCGGGCCAGTTCCTGCAGGGCCGGCCACAGCGAGGCCACCGTCTCCGCCAGCGTCAGCGGCACAGAGACTGCCCGCCTCAGACCCTCCTGTAGGGCCGCCGTGCGCCTGAAAGGAGCAAGAGGAGAGCCTGAGCACAGCGGCACACACAGGCAGGCAGTGGACACACTGCACCCCAACAGGGCTGAGCAGGCTGCAGAAGCGGGCGATGGGAAGTCATTCCCAAACACCCAGCACGCCCAGGCCAACCACGCCCCGTCACAGCACCCAGGTACTCGGGATCCTGGCCACCAACTCCCCAGACACAGAGGCCCACGGTGCGGCCGGCCCTCCAGGCTCACCTGTCCTTTTCCTCAGGTGTGTTCTTGGGGAGCCTCATTGCTTCCTGCCATAAAGAGACAGAACCACTGGGCGAGGGACCGTAGGGGGAGCAGCCATGCCCTCTGAGCTCCCACAAGGGGCTGTAGCAAGGAGCATGTCCCAGGCAGGGACCAGTTCTCTGGGAACCAAGCTTCTGTTGGGCCAGTGGTTTATAGCCCTTAGCATCAGGCTTGGTGGAGGAGCAGGGTAGGGGGGGTCGGGGCACACAGCAGATGGTCAGAGACCCGGGGATGTGAGAAGCAGGTAGTTCCCTCAGGGCCCTTATTCTCAGCTAAAGAGCCTGAGGGCCCAGGAGGTCCCCTGAGCCCTCAGAACCTGTAGGCAGGAGTGGCTCTGGGCCTGTGTCTCCAACACAAGCAGCTGCACCGCCCCCAAGCCTGGGCATAAGAGGCTCAGACTGTGCAGAAGGACCAAGAGCAAACCTCAAAGCCCCTCATGTCCCTGCCCCGGTCACAGGCACTGGCCTTTCCTAGGTGCTCATGTGTGTAGCTCACGGCGTCACCGTAAGGCACTCGGCTCCTCGGACCCACCCCGTGTGGAAGAGCACAGCTGGGACCACACACCAACCTTCCAAGGACCCACTGGGAGCCCTACTCACACGGACTGTGGCCAGAGCCCTGGCCAAGGGGTTCTCAGTGGGGAATATGCTCACTTCATCTTGGAAGATTCAGCCAACTCTCCACCAGAAAGTCATCATCAACAGCCCCTACCCTCGACCATGGATGAGAGCAAATGCTCCCTGGGCGCCAGCCAGATCTGGATCCTTTGACCATTCCGACAGCAGTGATCGAGGAACAGAAATGCCCAGTGTCTCCCTGACTGGCTGGGGCATCATCCAGACCAGGCCTCCTGGCTGCAGCCCCTCTCCCAGGCTGTCCTCTGCACAAGGGTCTGTAGCAGTTGCAGGCGGAGGCAGGACAGCCATCCTCAAGCTGCGACTCGCGCTACGAACACTCTCTCACACCCAGGCCTTGCGGTGTCCATGGTCTCCCTGGGCAGATCTTGGCCAAGGGTGTGCTTTAGGTGGCCTCATCTGCGTCCGGCCGAGGCCTGCCCGCCCGGTCCGTTTTGTTTTCTGTGATTTATCGTGAGGCTTGGTTGTGTTGGTGGTGGGGAAATACAGTTTTCTATTCCATCTGGAAATTACTTATGTATTTGGTGCAAGGTACAGATATCTCCTTATGTTTTTCAAAAGTCGACCTTTGCATTGCTCAGAGGGAGCATAAACCAATCCAGCACTCCCCGTCCACCTTCACATTGCTCACAGGGAGTGTACACCAACCCAGCACTCCCCGTCCACCTTCACGTGCCTCACAGGGTGCGTAAACCAATGCAGCACTCCCCGTCCACCTTCACATTGTTCACAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTCAGAGGGAGTGTAAACCAACCCAGCACTCCCCCGTCCACCTTCACGTGGCTCACAGGGAGTGTAAACCAATCCAGCACTCCCCGTCCACCTTCGCGTGGCTCACAGGGAGTGTAAACCAACCCAGCACTCCTCGTCCACCTTCACATTGTTCGCAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTCAGAGGGAGTGTA
|
GAGGCTATCCTTCCAGCGTCGAAGGTCCTGCTGTCCCTGGGGTTTCTGTCCCATGCACAGAACCAGGGCCCCTTTCCCTCAGACAAGGGGCCTCACAGCCCAGGGACCTGCACTGAACCCCAGGTCCTCTGAATACCTGTGACCCTGCCCACTGTGGGCTGCACTGGGTGTCTGGGGACCCTGGCGCTGAGGTCTGTCTCCTCACGCTGCAACCCCATTCCCTCCAACCCTGGCTCCCATGGGCCACTGACCATATGTCCTGCTCCTGCCCCAAGACCCGCAGCTCAGCTCTCAGCCCTGCCCCCAAAACCGCCAACACACAACACAGGTTTGGTGCCAAAACTTTACTGGAGGTCACATGGGACTAGGGGCCTTCTGTCCCTGCCAGCGCCTCCATTCCCAGGCGATGCCCCGCTGCCTGCCCACCTACCCTCCGGGCCCCACACGAACAAGCTGTGTCCCCACCGAGGTCACAGCTCTGCCCTCTGGGGATGGGCGAGGGAGGGGCCACAGAGCCCGGAGAGGCCTCCCGCACCGTCACTCCTGCCGGGTCTCCAAGCAGTCCAGCACCAGTGCAGCCTGGGTCTTGGCTTCCTGCAGGAGGCTGGAAACACGATGGTGGATCTGATGGACACAGGGAAAGAGGGGTCTGGTAGTTCCAGTCTTCAGCCCAGCTTGCTGGGCAGCAACCTCCGACCCCCACTGCCCACAGCCAGTCGGCAATCACCCTGAGGCTGTGAATCCAGGCCCCCACGTGGGGTCCGGGCACCACACCTGCCTCCTGCTCACCTGGTCCTTAAATGCCTCGTCTGTGATGTCCCTCAGGTTGATGAGCACGTTGAAATATGCGCCAAACACGCCCATCTCCAGGGCTTTGGCCGCCACCTGCAAGGACCCCAGGGAGCCCCTACATGGATCAAGGCTGAGCAAACTGCCGGAAGGAGGGTCTCTGCCTGACGGGCTCTGGGACAGGCCGGACTTCGTCCTCCTCCTCACAAGGAGCCCAGCGCAGCCCCCGCTTTCGCCCCACAGAGGGCTAAGCCCCACCACTGAGCTTAGAAAACAAAACTTTCTCTTATCCAAGCAGGGCTCAGCCCCACAGGAGGCCTGGGAGCAGTCACACTGGAGGCTCTCCGCCACTCTAGGAACCAGGACCACAGTTCTAGAGACAAAGTCATCCCCTGGAGGGCCCCCGGAGGCAGCTTCAGGCTAACGGCCCGCCCACTGCCCAGGGACACTTCCCAGGGACTGAGGGGACACTTCTCTGGGACCAGATGCTGAAAAGAGGCGTCTTTCCTATAAAGAACCCGAAGACCATGAGGTCTTAGGGCAGCTGCAGAAAGTGCTGAGCCCATGAGAGAGACGCTCCTTCTCTGGGACCCTCTGCCCAGCTGTGGCCCCTGTCAGTGTGAGGCATCTACTTCCAAGAGCTGCCTTGTGTGCTTTCTCGTGTTTTGTTGTTTTTGACCCAGGGTCTTGCTCTGTCACCAAGGCTGGAGCGCAGTGGTGTGATCACGGCTCACTGCAGCCTTGACCTCCTGTGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCACCACCGTGCCTGGCTCATATGTATCTATTGTACAGCCAGGGTCCCACTATGTTGCCCAGGCTGGTCTCGACCTCCTCTATTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGACCACAGGCGAGAACCATTGTGCCTGGGCTGACATAGGTGTTTTCTAGAACAAGACAGTGGGGGTGATACAAGGGGTCTTGGGGGAGTATACACTTATACAGTGGTCAGGGTGGGCTCTGCAGACACATTTGGGTCTCCGTCTGTGGTGCCGCCGTGAGCGAGATCTTAGAAGGCAGCGGACACCCCGGCCCTGTTGGAGGAGGCCAAAGCCCCGGGAACTGCCCGTGAAGTGAGGTCTCCCTACCTGGCTCAGCCCAGCCAACCACCGTGCTCTCCAGCAACTCAGCCCCAACAGCTGCTTCCTGCTTTGCGGCAGGAGGCCTGGGGTCCCCCGGGCCCCCTACCTGGAGGTCTGACCGGCAGGCCAGGTTCCCACACCGGGCCAGTTCCTGCAGGGCCGGCCACAGCGAGGCCACCGTCTCCGCCAGCGTCAGCGGCACAGAGACTGCCCGCCTCAGACCCTCCTGTAGGGCCGCCGTGCGCCTGAAAGGAGCAAGAGGAGAGCCTGAGCACAGCGGCACACACAGGCAGGCAGTGGACACACTGCACCCCAACAGGGCTGAGCAGGCTGCAGAAGCGGGCGATGGGAAGTCATTCCCAAACACCCAGCACGCCCAGGCCAACCACGCCCCGTCACAGCACCCAGGTACTCGGGATCCTGGCCACCAACTCCCCAGACACAGAGGCCCACGGTGCGGCCGGCCCTCCAGGCTCACCTGTCCTTTTCCTCAGGTGTGTTCTTGGGGAGCCTCATTGCTTCCTGCCATAAAGAGACAGAACCACTGGGCGAGGGACCGTAGGGGGAGCAGCCATGCCCTCTGAGCTCCCACAAGGGGCTGTAGCAAGGAGCATGTCCCAGGCAGGGACCAGTTCTCTGGGAACCAAGCTTCTGTTGGGCCAGTGGTTTATAGCCCTTAGCATCAGGCTTGGTGGAGGAGCAGGGTAGGGGGGGTCGGGGCACACAGCAGATGGTCAGAGACCCGGGGATGTGAGAAGCAGGTAGTTCCCTCAGGGCCCTTATTCTCAGCTAAAGAGCCTGAGGGCCCAGGAGGTCCCCTGAGCCCTCAGAACCTGTAGGCAGGAGTGGCTCTGGGCCTGTGTCTCCAACACAAGCAGCTGCACCGCCCCCAAGCCTGGGCATAAGAGGCTCAGACTGTGCAGAAGGACCAAGAGCAAACCTCAAAGCCCCTCATGTCCCTGCCCCGGTCACAGGCACTGGCCTTTCCTAGGTGCTCATGTGTGTAGCTCACGGCGTCACCGTAAGGCACTCGGCTCCTCGGACCCACCCCGTGTGGAAGAGCACAGCTGGGACCACACACCAACCTTCCAAGGACCCACTGGGAGCCCTACTCACACGGACTGTGGCCAGAGCCCTGGCCAAGGGGTTCTCAGTGGGGAATATGCTCACTTCATCTTGGAAGATTCAGCCAACTCTCCACCAGAAAGTCATCATCAACAGCCCCTACCCTCGACCATGGATGAGAGCAAATGCTCCCTGGGCGCCAGCCAGATCTGGATCCTTTGACCATTCCGACAGCAGTGATCGAGGAACAGAAATGCCCAGTGTCTCCCTGACTGGCTGGGGCATCATCCAGACCAGGCCTCCTGGCTGCAGCCCCTCTCCCAGGCTGTCCTCTGCACAAGGGTCTGTAGCAGTTGCAGGCGGAGGCAGGACAGCCATCCTCAAGCTGCGACTCGCGCTACGAACACTCTCTCACACCCAGGCCTTGCGGTGTCCATGGTCTCCCTGGGCAGATCTTGGCCAAGGGTGTGCTTTAGGTGGCCTCATCTGCGTCCGGCCGAGGCCTGCCCGCCCGGTCCGTTTTGTTTTCTGTGATTTATCGTGAGGCTTGGTTGTGTTGGTGGTGGGGAAATACAGTTTTCTATTCCATCTGGAAATTACTTATGTATTTGGTGCAAGGTACAGATATCTCCTTATGTTTTTCAAAAGTCGACCTTTGCATTGCTCAGAGGGAGCATAAACCAATCCAGCACTCCCCGTCCACCTTCACATTGCTCACAGGGAGTGTACACCAACCCAGCACTCCCCGTCCACCTTCACGTGCCTCACAGGGTGCGTAAACCAATGCAGCACTCCCCGTCCACCTTCACATTGTTCACAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTCAGAGGGAGTGTAAACCAACCCAGCACTCCCCCGTCCACCTTCACGTGGCTCACAGGGAGTGTAAACCAATCCAGCACTCCCCGTCCACCTTCGCGTGGCTCACAGGGAGTGTAAACCAACCCAGCACTCCTCGTCCACCTTCACATTGTTCGCAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTCAGAGGGAGTGTAN
|
benign
| 321,110 |
Chromosome 21, position 46145854, gene FTCD (formimidoyltransferase cyclodeaminase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Glutamate_formiminotransferase_deficiency']
|
TCTCCCTTTCTCCAGGGGAGTTTGAAGAAGACTCTGGTCCACCACCTCTTGTAAAGGGCCCACCCGCAGTTATCCCGAGGCCTAATCGTCTCCCTGTGATGCTGTGCTTTAGAGCTCATGCTCCTGTTTCACTTTTATGTTCCACTCTGTACACCTGGCTCCGCCCTCTAGATAACAGTAGCAAACTTAGTAAAAGTATTAGTCTTTAATCTTTCTAAAAAGAGGATTAAAAAAAATGATGTGAGCTGTCCTCTCTCTCTCTGCCTCAGCTACCTAACAGGGAAGGGGCCCCTGTGCGGTGGACATGTGACTCACGTGACCTTATCAATCATTAAAGATGACTCACACTCTTTACCCTGCCTCTTTTGCTTTGTATCCAATAAATAACAGCGCAGCCAGGCATTCAGGGCCACTACCGGTCTCCGTGTCTTAGTGGTAGTGGTCCCCCGGGCCCAGCTGTCTTTTCTTCTCTTTGTCTTGTGTCTTTATTTCTATAATCTCTCATCTCTACACACGGGGAGAAAAACCCACAGACCCTGTAGGGCTGGCCCCTACACCTCTCTCCCCTCTCTCCCTCTCTCTCCCTCCCTCTCTCTCCACCTACCTCTCTCCCCCCTCCCTCCCTCCCCTCTTTCCCCCTCTCCCTCTCTCCCCTCTCTCCCCCCTCTCCCCCTCTCCCTCCCCTTTCCCTCCTCCCCTCTCCCTCCCTCTCTCCCCCTCTCCCTCTCTCCCCTTTTCCCCCTCCCTCTCTCCCCCCTCCTCCCTCTGTCTCCCTCCCTCTCTCCCTCCCTCTCCCTCTCTCTCTGTCTCTCCCCCTCCCTCTCTCCCCCTCTCCCTCTCCTCCCCCTCCCTCCCTCCCCATCCCTCCCTCCCTCTCTCTCTCCGCCATCTGCCTCTCTCCCCACTCTCCCTCTCTTCTCTCTCCCCTCCCTCTCTCTCTCTTTTCTGCCCTTCCCTCCTGTCCTCTCCTGGGCTGGAACTGCTTGGGAGCATCCTGACCTTGTCACTGCCCTTTCCCAGGCTCTCTGGCCCCTGCCCTAGGCTCTGAGCACCCAGCACCCATCTGTGGGCACATCCTGCCAGCTGATGCTCATGTTCCTGTCCCGTTTGGAGGGAGGTGGGGTCACTGCCTGCCTGAGTGGGTGTTATCTGAAGATGGTGTTTCTGTCTTATGCTGTGGCTGAAACGGGTCGTCTCTGGCCTGCCTGAGAGCACTCATCACTGTGTTCCTGAGATTCTTGCAGGCCTCCTTTCCTGGAATTGCAGGCTTCTAAAGAAGGGCCCTGCCTTGCTCCAGGTCTGTGGGGTCCCCCAAGCCTGGGCTCCTGGCTCCCCTGCTGGGAGGGGCCTGTTCCCTTGTACCGGCTGCCATGGCCTGTGAATGTGGGGTCACCCTGGCCGAACCCTCAAACCCTGCTGGGCCCAAGCACTTGCCGGGGTGAGGGCGGTGCTGGTGGTCAAGGTCCAGACAGCGGCCAGTGGTGACGCCCTCAGGCCCCTCCTGGTCCCCAGCCCCTCCCCAGCCGGAGGCTGACCCGCTTCTCACTGGGGCCCCAGCTGGGGGTTCGCTGTTGGTGGGGCCCGGGGAGCCCTGCTGTGGCCGCCACTCACCAGGTAGGCGGTGAAGGCCTCGGCGTCGGCATCCACCAGCGTGGTTAGCTTGGCCGAAGCCTCGCGGAAGGGCGGGATCAGGCGCCGCATCGTCGTGTCCAGGGACTGGAATTGGCGCCGCCCGTAGGTCATGAGGCCCACCATGGAGCCCAGCGCCGCACCCTGCGAGAGGGGTGGATGTGGGGGTCGCAGGGACCCCAGACGGCCCGGGACCGACCCCAGGAAGAGCCAGGGGCCCGGGTGATCCCTGCGGGGGTCCCACCCGTGTGGCCCCCACGTCTCCACCCAGGGCGGCCCCACCGCGCCCTCCCCACCCCGTGCCCTCCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAACTGCGCCTCCCCTGCCCCTCCCCCCGCGCTCACCATGGCCGCAGCGGCCGCCGCCACCGAGCCGCCCCCGGGGGCCGCAGAGCGGGCACCCACCTCCCCCACGAAGGCGCGCAGGGACTTGCTGCCCAGGCCTCGCTCAGGCCCGCGCTCAGGGACCAGGTACCTGCAGGGTGGGCGCGGCTCAGCGGGTCTGGCCGGGGTTGGTGGGGGGAGCGCAGTCCTCCCGGGGCGGCCCCAGGCCCCACGCCCGTCTGCACCCACGGGGAGGTGACCACTCGGCTGAGAACCTGCGGGGACCCGGCCGGGGTCTCTGTGCCCCCCTCAGCCCCCAGACCCCGGCTTGGCGCAGGCCGAGTAGGCGCCCAAAGGGAGGCGCTGGGAGGACTCAGCCGGGTCTCCACGCAGGGACCCCAGCGCCCCGCAAGGCCCGAGAGGCAGAGCCCGGGAGGGGTGAGAAGAGGGCGGGAGGGCAGAGGCTCACTCGATGATCCGCTCCTTAGGGCTGAAGGGGCACAGGGAGTCCAGGCCCAGCCGGCTCACCACCTGGAAAAGGGGCTTGGAGTGGAAACGGCCTCGGCGCGTCTCCACCACCAGGAAAGCCTCGGAACCCGCGGGTCCCACCCTTGCGGCAGCCGCCCCCTGCCCCGAGCACACAGGTGCTTTTGCGGGGAGCAGGGCAGGGGCGTGGCTGGCACCCCCCACCTCTGCCCCGCCAGGAGCCCTGTGGGCCCCGCCCCAGCAGGCACCCCGTACAGGCTTCTGGAAACAGCCATCACCCTGAGTTGCCCTTGGGGAACCTGAGGCCCAGAGAAAGGAGTTGCCCCCTGGGGACCCCTCAGCAAACTGCTGCTCATGCTTCGCCGCCCCCCAGCACCACTGCCCCATCGCTGACGGGCGGGAAAGATTTTAATTCACCAAGTCTTCACATCTAACAAGTCCTCAAAAGCTGAGGAACAGCCCCAAGTCACCCACACATAAACTTGTATGCCACAAAAGTGAGTTTTACCTAAATTCAAAATAAAGTTGTGACAGTCCCATTTAAGATTAGAATTCATTCTGGGAAACCCATTCAGAACACGTTGGCTATGCGACCCCCACCCCACCCCACAGAGACGGACAGCAGCCGGGCGGGGTGGAGAGTGCCTCCCCGTGGCATAGAACCAGCAAGCCACAAGGCAAAGCCTCCTTCCGCAGAAAACCCCAGGAAGATGCCGGGCATTTTAAAGGCCTGGCTAAGCTAGCAGACAGGACATCATTCGAAACCAGACACGACCAGAAAGACGAGTCCGGAAAGGCCTGCCAGCCTGGAGCTGGGTCTGCCCTGGGGGCAACTGCCCCTCTCTGGCAGCCCCTGATGAGTGGGGGAGGTCTGGGGCCTTCAGAGTGGGGTCCGACTGGAGACCCCTGGAAGGTGACACCCCCAAGGATGAATTAGAAACAGCCACCCGCCAGAGGAAACAGTTGAGGTACTTCCCAGTCCCTGCCTTCCCTTTGGGTGAAGCAGGAAAAAAAAAAAAATCTCCTGGGAATTCCTAATCACAAGCCACCCTGACAGGGCTGCAGGCCTCACCCGACACCGAATTCACTCTTGTGTGGTTCCAGAACTCCAAGCCAAAAACTCAGCTTCAGGGGGTCCTGTGAGGCAGTGTCCACAAGCGCCAGCACAAACCCTCCTTGGAGGAGAAAACTTTGAACCCAGGTGTCCAAGAATTACCATAGATAAAATTCCACAGAGCATGCACTGGCAATCAAAAATCACACAACACAAAGCAAAGCAGCCTCACCACAAGGAGGCAGCACGCAGCCACGGGCACAGCCAGACCTGTGCAGGCCGCAGGCATGGGGCCCTTCAGGTAAAGAAGACAAAACCCCAGCCAGTCACGGTGGCTCACGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGCGGACGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAAAAAAAAATACAAAAATTAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGAGAACTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACAC
|
TCTCCCTTTCTCCAGGGGAGTTTGAAGAAGACTCTGGTCCACCACCTCTTGTAAAGGGCCCACCCGCAGTTATCCCGAGGCCTAATCGTCTCCCTGTGATGCTGTGCTTTAGAGCTCATGCTCCTGTTTCACTTTTATGTTCCACTCTGTACACCTGGCTCCGCCCTCTAGATAACAGTAGCAAACTTAGTAAAAGTATTAGTCTTTAATCTTTCTAAAAAGAGGATTAAAAAAAATGATGTGAGCTGTCCTCTCTCTCTCTGCCTCAGCTACCTAACAGGGAAGGGGCCCCTGTGCGGTGGACATGTGACTCACGTGACCTTATCAATCATTAAAGATGACTCACACTCTTTACCCTGCCTCTTTTGCTTTGTATCCAATAAATAACAGCGCAGCCAGGCATTCAGGGCCACTACCGGTCTCCGTGTCTTAGTGGTAGTGGTCCCCCGGGCCCAGCTGTCTTTTCTTCTCTTTGTCTTGTGTCTTTATTTCTATAATCTCTCATCTCTACACACGGGGAGAAAAACCCACAGACCCTGTAGGGCTGGCCCCTACACCTCTCTCCCCTCTCTCCCTCTCTCTCCCTCCCTCTCTCTCCACCTACCTCTCTCCCCCCTCCCTCCCTCCCCTCTTTCCCCCTCTCCCTCTCTCCCCTCTCTCCCCCCTCTCCCCCTCTCCCTCCCCTTTCCCTCCTCCCCTCTCCCTCCCTCTCTCCCCCTCTCCCTCTCTCCCCTTTTCCCCCTCCCTCTCTCCCCCCTCCTCCCTCTGTCTCCCTCCCTCTCTCCCTCCCTCTCCCTCTCTCTCTGTCTCTCCCCCTCCCTCTCTCCCCCTCTCCCTCTCCTCCCCCTCCCTCCCTCCCCATCCCTCCCTCCCTCTCTCTCTCCGCCATCTGCCTCTCTCCCCACTCTCCCTCTCTTCTCTCTCCCCTCCCTCTCTCTCTCTTTTCTGCCCTTCCCTCCTGTCCTCTCCTGGGCTGGAACTGCTTGGGAGCATCCTGACCTTGTCACTGCCCTTTCCCAGGCTCTCTGGCCCCTGCCCTAGGCTCTGAGCACCCAGCACCCATCTGTGGGCACATCCTGCCAGCTGATGCTCATGTTCCTGTCCCGTTTGGAGGGAGGTGGGGTCACTGCCTGCCTGAGTGGGTGTTATCTGAAGATGGTGTTTCTGTCTTATGCTGTGGCTGAAACGGGTCGTCTCTGGCCTGCCTGAGAGCACTCATCACTGTGTTCCTGAGATTCTTGCAGGCCTCCTTTCCTGGAATTGCAGGCTTCTAAAGAAGGGCCCTGCCTTGCTCCAGGTCTGTGGGGTCCCCCAAGCCTGGGCTCCTGGCTCCCCTGCTGGGAGGGGCCTGTTCCCTTGTACCGGCTGCCATGGCCTGTGAATGTGGGGTCACCCTGGCCGAACCCTCAAACCCTGCTGGGCCCAAGCACTTGCCGGGGTGAGGGCGGTGCTGGTGGTCAAGGTCCAGACAGCGGCCAGTGGTGACGCCCTCAGGCCCCTCCTGGTCCCCAGCCCCTCCCCAGCCGGAGGCTGACCCGCTTCTCACTGGGGCCCCAGCTGGGGGTTCGCTGTTGGTGGGGCCCGGGGAGCCCTGCTGTGGCCGCCACTCACCAGGTAGGCGGTGAAGGCCTCGGCGTCGGCATCCACCAGCGTGGTTAGCTTGGCCGAAGCCTCGCGGAAGGGCGGGATCAGGCGCCGCATCGTCGTGTCCAGGGACTGGAATTGGCGCCGCCCGTAGGTCATGAGGCCCACCATGGAGCCCAGCGCCGCACCCTGCGAGAGGGGTGGATGTGGGGGTCGCAGGGACCCCAGACGGCCCGGGACCGACCCCAGGAAGAGCCAGGGGCCCGGGTGATCCCTGCGGGGGTCCCACCCGTGTGGCCCCCACGTCTCCACCCAGGGCGGCCCCACCGCGCCCTCCCCACCCCGTGCCCTCCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAACTGCGCCTCCCCTGCCCCTCCCCCCGCGCTCACCATGGCCGCAGCGGCCGCCGCCACCGAGCCGCCCCCGCGAAGGCGCGCAGGGACTTGCTGCCCAGGCCTCGCTCAGGCCCGCGCTCAGGGACCAGGTACCTGCAGGGTGGGCGCGGCTCAGCGGGTCTGGCCGGGGTTGGTGGGGGGAGCGCAGTCCTCCCGGGGCGGCCCCAGGCCCCACGCCCGTCTGCACCCACGGGGAGGTGACCACTCGGCTGAGAACCTGCGGGGACCCGGCCGGGGTCTCTGTGCCCCCCTCAGCCCCCAGACCCCGGCTTGGCGCAGGCCGAGTAGGCGCCCAAAGGGAGGCGCTGGGAGGACTCAGCCGGGTCTCCACGCAGGGACCCCAGCGCCCCGCAAGGCCCGAGAGGCAGAGCCCGGGAGGGGTGAGAAGAGGGCGGGAGGGCAGAGGCTCACTCGATGATCCGCTCCTTAGGGCTGAAGGGGCACAGGGAGTCCAGGCCCAGCCGGCTCACCACCTGGAAAAGGGGCTTGGAGTGGAAACGGCCTCGGCGCGTCTCCACCACCAGGAAAGCCTCGGAACCCGCGGGTCCCACCCTTGCGGCAGCCGCCCCCTGCCCCGAGCACACAGGTGCTTTTGCGGGGAGCAGGGCAGGGGCGTGGCTGGCACCCCCCACCTCTGCCCCGCCAGGAGCCCTGTGGGCCCCGCCCCAGCAGGCACCCCGTACAGGCTTCTGGAAACAGCCATCACCCTGAGTTGCCCTTGGGGAACCTGAGGCCCAGAGAAAGGAGTTGCCCCCTGGGGACCCCTCAGCAAACTGCTGCTCATGCTTCGCCGCCCCCCAGCACCACTGCCCCATCGCTGACGGGCGGGAAAGATTTTAATTCACCAAGTCTTCACATCTAACAAGTCCTCAAAAGCTGAGGAACAGCCCCAAGTCACCCACACATAAACTTGTATGCCACAAAAGTGAGTTTTACCTAAATTCAAAATAAAGTTGTGACAGTCCCATTTAAGATTAGAATTCATTCTGGGAAACCCATTCAGAACACGTTGGCTATGCGACCCCCACCCCACCCCACAGAGACGGACAGCAGCCGGGCGGGGTGGAGAGTGCCTCCCCGTGGCATAGAACCAGCAAGCCACAAGGCAAAGCCTCCTTCCGCAGAAAACCCCAGGAAGATGCCGGGCATTTTAAAGGCCTGGCTAAGCTAGCAGACAGGACATCATTCGAAACCAGACACGACCAGAAAGACGAGTCCGGAAAGGCCTGCCAGCCTGGAGCTGGGTCTGCCCTGGGGGCAACTGCCCCTCTCTGGCAGCCCCTGATGAGTGGGGGAGGTCTGGGGCCTTCAGAGTGGGGTCCGACTGGAGACCCCTGGAAGGTGACACCCCCAAGGATGAATTAGAAACAGCCACCCGCCAGAGGAAACAGTTGAGGTACTTCCCAGTCCCTGCCTTCCCTTTGGGTGAAGCAGGAAAAAAAAAAAAATCTCCTGGGAATTCCTAATCACAAGCCACCCTGACAGGGCTGCAGGCCTCACCCGACACCGAATTCACTCTTGTGTGGTTCCAGAACTCCAAGCCAAAAACTCAGCTTCAGGGGGTCCTGTGAGGCAGTGTCCACAAGCGCCAGCACAAACCCTCCTTGGAGGAGAAAACTTTGAACCCAGGTGTCCAAGAATTACCATAGATAAAATTCCACAGAGCATGCACTGGCAATCAAAAATCACACAACACAAAGCAAAGCAGCCTCACCACAAGGAGGCAGCACGCAGCCACGGGCACAGCCAGACCTGTGCAGGCCGCAGGCATGGGGCCCTTCAGGTAAAGAAGACAAAACCCCAGCCAGTCACGGTGGCTCACGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGCGGACGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAAAAAAAAATACAAAAATTAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGAGAACTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 321,117 |
Mutation found at chromosome 21 position 46145925, gene FTCD (formimidoyltransferase cyclodeaminase): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['FTCD-related_disorder', 'Glutamate_formiminotransferase_deficiency', 'Inborn_genetic_diseases']
|
ATCCCGAGGCCTAATCGTCTCCCTGTGATGCTGTGCTTTAGAGCTCATGCTCCTGTTTCACTTTTATGTTCCACTCTGTACACCTGGCTCCGCCCTCTAGATAACAGTAGCAAACTTAGTAAAAGTATTAGTCTTTAATCTTTCTAAAAAGAGGATTAAAAAAAATGATGTGAGCTGTCCTCTCTCTCTCTGCCTCAGCTACCTAACAGGGAAGGGGCCCCTGTGCGGTGGACATGTGACTCACGTGACCTTATCAATCATTAAAGATGACTCACACTCTTTACCCTGCCTCTTTTGCTTTGTATCCAATAAATAACAGCGCAGCCAGGCATTCAGGGCCACTACCGGTCTCCGTGTCTTAGTGGTAGTGGTCCCCCGGGCCCAGCTGTCTTTTCTTCTCTTTGTCTTGTGTCTTTATTTCTATAATCTCTCATCTCTACACACGGGGAGAAAAACCCACAGACCCTGTAGGGCTGGCCCCTACACCTCTCTCCCCTCTCTCCCTCTCTCTCCCTCCCTCTCTCTCCACCTACCTCTCTCCCCCCTCCCTCCCTCCCCTCTTTCCCCCTCTCCCTCTCTCCCCTCTCTCCCCCCTCTCCCCCTCTCCCTCCCCTTTCCCTCCTCCCCTCTCCCTCCCTCTCTCCCCCTCTCCCTCTCTCCCCTTTTCCCCCTCCCTCTCTCCCCCCTCCTCCCTCTGTCTCCCTCCCTCTCTCCCTCCCTCTCCCTCTCTCTCTGTCTCTCCCCCTCCCTCTCTCCCCCTCTCCCTCTCCTCCCCCTCCCTCCCTCCCCATCCCTCCCTCCCTCTCTCTCTCCGCCATCTGCCTCTCTCCCCACTCTCCCTCTCTTCTCTCTCCCCTCCCTCTCTCTCTCTTTTCTGCCCTTCCCTCCTGTCCTCTCCTGGGCTGGAACTGCTTGGGAGCATCCTGACCTTGTCACTGCCCTTTCCCAGGCTCTCTGGCCCCTGCCCTAGGCTCTGAGCACCCAGCACCCATCTGTGGGCACATCCTGCCAGCTGATGCTCATGTTCCTGTCCCGTTTGGAGGGAGGTGGGGTCACTGCCTGCCTGAGTGGGTGTTATCTGAAGATGGTGTTTCTGTCTTATGCTGTGGCTGAAACGGGTCGTCTCTGGCCTGCCTGAGAGCACTCATCACTGTGTTCCTGAGATTCTTGCAGGCCTCCTTTCCTGGAATTGCAGGCTTCTAAAGAAGGGCCCTGCCTTGCTCCAGGTCTGTGGGGTCCCCCAAGCCTGGGCTCCTGGCTCCCCTGCTGGGAGGGGCCTGTTCCCTTGTACCGGCTGCCATGGCCTGTGAATGTGGGGTCACCCTGGCCGAACCCTCAAACCCTGCTGGGCCCAAGCACTTGCCGGGGTGAGGGCGGTGCTGGTGGTCAAGGTCCAGACAGCGGCCAGTGGTGACGCCCTCAGGCCCCTCCTGGTCCCCAGCCCCTCCCCAGCCGGAGGCTGACCCGCTTCTCACTGGGGCCCCAGCTGGGGGTTCGCTGTTGGTGGGGCCCGGGGAGCCCTGCTGTGGCCGCCACTCACCAGGTAGGCGGTGAAGGCCTCGGCGTCGGCATCCACCAGCGTGGTTAGCTTGGCCGAAGCCTCGCGGAAGGGCGGGATCAGGCGCCGCATCGTCGTGTCCAGGGACTGGAATTGGCGCCGCCCGTAGGTCATGAGGCCCACCATGGAGCCCAGCGCCGCACCCTGCGAGAGGGGTGGATGTGGGGGTCGCAGGGACCCCAGACGGCCCGGGACCGACCCCAGGAAGAGCCAGGGGCCCGGGTGATCCCTGCGGGGGTCCCACCCGTGTGGCCCCCACGTCTCCACCCAGGGCGGCCCCACCGCGCCCTCCCCACCCCGTGCCCTCCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAACTGCGCCTCCCCTGCCCCTCCCCCCGCGCTCACCATGGCCGCAGCGGCCGCCGCCACCGAGCCGCCCCCGGGGGCCGCAGAGCGGGCACCCACCTCCCCCACGAAGGCGCGCAGGGACTTGCTGCCCAGGCCTCGCTCAGGCCCGCGCTCAGGGACCAGGTACCTGCAGGGTGGGCGCGGCTCAGCGGGTCTGGCCGGGGTTGGTGGGGGGAGCGCAGTCCTCCCGGGGCGGCCCCAGGCCCCACGCCCGTCTGCACCCACGGGGAGGTGACCACTCGGCTGAGAACCTGCGGGGACCCGGCCGGGGTCTCTGTGCCCCCCTCAGCCCCCAGACCCCGGCTTGGCGCAGGCCGAGTAGGCGCCCAAAGGGAGGCGCTGGGAGGACTCAGCCGGGTCTCCACGCAGGGACCCCAGCGCCCCGCAAGGCCCGAGAGGCAGAGCCCGGGAGGGGTGAGAAGAGGGCGGGAGGGCAGAGGCTCACTCGATGATCCGCTCCTTAGGGCTGAAGGGGCACAGGGAGTCCAGGCCCAGCCGGCTCACCACCTGGAAAAGGGGCTTGGAGTGGAAACGGCCTCGGCGCGTCTCCACCACCAGGAAAGCCTCGGAACCCGCGGGTCCCACCCTTGCGGCAGCCGCCCCCTGCCCCGAGCACACAGGTGCTTTTGCGGGGAGCAGGGCAGGGGCGTGGCTGGCACCCCCCACCTCTGCCCCGCCAGGAGCCCTGTGGGCCCCGCCCCAGCAGGCACCCCGTACAGGCTTCTGGAAACAGCCATCACCCTGAGTTGCCCTTGGGGAACCTGAGGCCCAGAGAAAGGAGTTGCCCCCTGGGGACCCCTCAGCAAACTGCTGCTCATGCTTCGCCGCCCCCCAGCACCACTGCCCCATCGCTGACGGGCGGGAAAGATTTTAATTCACCAAGTCTTCACATCTAACAAGTCCTCAAAAGCTGAGGAACAGCCCCAAGTCACCCACACATAAACTTGTATGCCACAAAAGTGAGTTTTACCTAAATTCAAAATAAAGTTGTGACAGTCCCATTTAAGATTAGAATTCATTCTGGGAAACCCATTCAGAACACGTTGGCTATGCGACCCCCACCCCACCCCACAGAGACGGACAGCAGCCGGGCGGGGTGGAGAGTGCCTCCCCGTGGCATAGAACCAGCAAGCCACAAGGCAAAGCCTCCTTCCGCAGAAAACCCCAGGAAGATGCCGGGCATTTTAAAGGCCTGGCTAAGCTAGCAGACAGGACATCATTCGAAACCAGACACGACCAGAAAGACGAGTCCGGAAAGGCCTGCCAGCCTGGAGCTGGGTCTGCCCTGGGGGCAACTGCCCCTCTCTGGCAGCCCCTGATGAGTGGGGGAGGTCTGGGGCCTTCAGAGTGGGGTCCGACTGGAGACCCCTGGAAGGTGACACCCCCAAGGATGAATTAGAAACAGCCACCCGCCAGAGGAAACAGTTGAGGTACTTCCCAGTCCCTGCCTTCCCTTTGGGTGAAGCAGGAAAAAAAAAAAAATCTCCTGGGAATTCCTAATCACAAGCCACCCTGACAGGGCTGCAGGCCTCACCCGACACCGAATTCACTCTTGTGTGGTTCCAGAACTCCAAGCCAAAAACTCAGCTTCAGGGGGTCCTGTGAGGCAGTGTCCACAAGCGCCAGCACAAACCCTCCTTGGAGGAGAAAACTTTGAACCCAGGTGTCCAAGAATTACCATAGATAAAATTCCACAGAGCATGCACTGGCAATCAAAAATCACACAACACAAAGCAAAGCAGCCTCACCACAAGGAGGCAGCACGCAGCCACGGGCACAGCCAGACCTGTGCAGGCCGCAGGCATGGGGCCCTTCAGGTAAAGAAGACAAAACCCCAGCCAGTCACGGTGGCTCACGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGCGGACGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAAAAAAAAATACAAAAATTAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGAGAACTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCGGCCTGGGTGACAAAGTGAGGCTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGACAAA
|
ATCCCGAGGCCTAATCGTCTCCCTGTGATGCTGTGCTTTAGAGCTCATGCTCCTGTTTCACTTTTATGTTCCACTCTGTACACCTGGCTCCGCCCTCTAGATAACAGTAGCAAACTTAGTAAAAGTATTAGTCTTTAATCTTTCTAAAAAGAGGATTAAAAAAAATGATGTGAGCTGTCCTCTCTCTCTCTGCCTCAGCTACCTAACAGGGAAGGGGCCCCTGTGCGGTGGACATGTGACTCACGTGACCTTATCAATCATTAAAGATGACTCACACTCTTTACCCTGCCTCTTTTGCTTTGTATCCAATAAATAACAGCGCAGCCAGGCATTCAGGGCCACTACCGGTCTCCGTGTCTTAGTGGTAGTGGTCCCCCGGGCCCAGCTGTCTTTTCTTCTCTTTGTCTTGTGTCTTTATTTCTATAATCTCTCATCTCTACACACGGGGAGAAAAACCCACAGACCCTGTAGGGCTGGCCCCTACACCTCTCTCCCCTCTCTCCCTCTCTCTCCCTCCCTCTCTCTCCACCTACCTCTCTCCCCCCTCCCTCCCTCCCCTCTTTCCCCCTCTCCCTCTCTCCCCTCTCTCCCCCCTCTCCCCCTCTCCCTCCCCTTTCCCTCCTCCCCTCTCCCTCCCTCTCTCCCCCTCTCCCTCTCTCCCCTTTTCCCCCTCCCTCTCTCCCCCCTCCTCCCTCTGTCTCCCTCCCTCTCTCCCTCCCTCTCCCTCTCTCTCTGTCTCTCCCCCTCCCTCTCTCCCCCTCTCCCTCTCCTCCCCCTCCCTCCCTCCCCATCCCTCCCTCCCTCTCTCTCTCCGCCATCTGCCTCTCTCCCCACTCTCCCTCTCTTCTCTCTCCCCTCCCTCTCTCTCTCTTTTCTGCCCTTCCCTCCTGTCCTCTCCTGGGCTGGAACTGCTTGGGAGCATCCTGACCTTGTCACTGCCCTTTCCCAGGCTCTCTGGCCCCTGCCCTAGGCTCTGAGCACCCAGCACCCATCTGTGGGCACATCCTGCCAGCTGATGCTCATGTTCCTGTCCCGTTTGGAGGGAGGTGGGGTCACTGCCTGCCTGAGTGGGTGTTATCTGAAGATGGTGTTTCTGTCTTATGCTGTGGCTGAAACGGGTCGTCTCTGGCCTGCCTGAGAGCACTCATCACTGTGTTCCTGAGATTCTTGCAGGCCTCCTTTCCTGGAATTGCAGGCTTCTAAAGAAGGGCCCTGCCTTGCTCCAGGTCTGTGGGGTCCCCCAAGCCTGGGCTCCTGGCTCCCCTGCTGGGAGGGGCCTGTTCCCTTGTACCGGCTGCCATGGCCTGTGAATGTGGGGTCACCCTGGCCGAACCCTCAAACCCTGCTGGGCCCAAGCACTTGCCGGGGTGAGGGCGGTGCTGGTGGTCAAGGTCCAGACAGCGGCCAGTGGTGACGCCCTCAGGCCCCTCCTGGTCCCCAGCCCCTCCCCAGCCGGAGGCTGACCCGCTTCTCACTGGGGCCCCAGCTGGGGGTTCGCTGTTGGTGGGGCCCGGGGAGCCCTGCTGTGGCCGCCACTCACCAGGTAGGCGGTGAAGGCCTCGGCGTCGGCATCCACCAGCGTGGTTAGCTTGGCCGAAGCCTCGCGGAAGGGCGGGATCAGGCGCCGCATCGTCGTGTCCAGGGACTGGAATTGGCGCCGCCCGTAGGTCATGAGGCCCACCATGGAGCCCAGCGCCGCACCCTGCGAGAGGGGTGGATGTGGGGGTCGCAGGGACCCCAGACGGCCCGGGACCGACCCCAGGAAGAGCCAGGGGCCCGGGTGATCCCTGCGGGGGTCCCACCCGTGTGGCCCCCACGTCTCCACCCAGGGCGGCCCCACCGCGCCCTCCCCACCCCGTGCCCTCCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAACTGCGCCTCCCCTGCCCCTCCCCCCGCGCTCACCATGGCCGCAGCGGCCGCCGCCACCGAGCCGCCCCCGGGGGCCGCAGAGCGGGCACCCACCTCCCCCACGAAGGCGCGCAGGGACTTGCTGCCCAGGCCTCGCTCAGGCCCCGCGCTCAGGGACCAGGTACCTGCAGGGTGGGCGCGGCTCAGCGGGTCTGGCCGGGGTTGGTGGGGGGAGCGCAGTCCTCCCGGGGCGGCCCCAGGCCCCACGCCCGTCTGCACCCACGGGGAGGTGACCACTCGGCTGAGAACCTGCGGGGACCCGGCCGGGGTCTCTGTGCCCCCCTCAGCCCCCAGACCCCGGCTTGGCGCAGGCCGAGTAGGCGCCCAAAGGGAGGCGCTGGGAGGACTCAGCCGGGTCTCCACGCAGGGACCCCAGCGCCCCGCAAGGCCCGAGAGGCAGAGCCCGGGAGGGGTGAGAAGAGGGCGGGAGGGCAGAGGCTCACTCGATGATCCGCTCCTTAGGGCTGAAGGGGCACAGGGAGTCCAGGCCCAGCCGGCTCACCACCTGGAAAAGGGGCTTGGAGTGGAAACGGCCTCGGCGCGTCTCCACCACCAGGAAAGCCTCGGAACCCGCGGGTCCCACCCTTGCGGCAGCCGCCCCCTGCCCCGAGCACACAGGTGCTTTTGCGGGGAGCAGGGCAGGGGCGTGGCTGGCACCCCCCACCTCTGCCCCGCCAGGAGCCCTGTGGGCCCCGCCCCAGCAGGCACCCCGTACAGGCTTCTGGAAACAGCCATCACCCTGAGTTGCCCTTGGGGAACCTGAGGCCCAGAGAAAGGAGTTGCCCCCTGGGGACCCCTCAGCAAACTGCTGCTCATGCTTCGCCGCCCCCCAGCACCACTGCCCCATCGCTGACGGGCGGGAAAGATTTTAATTCACCAAGTCTTCACATCTAACAAGTCCTCAAAAGCTGAGGAACAGCCCCAAGTCACCCACACATAAACTTGTATGCCACAAAAGTGAGTTTTACCTAAATTCAAAATAAAGTTGTGACAGTCCCATTTAAGATTAGAATTCATTCTGGGAAACCCATTCAGAACACGTTGGCTATGCGACCCCCACCCCACCCCACAGAGACGGACAGCAGCCGGGCGGGGTGGAGAGTGCCTCCCCGTGGCATAGAACCAGCAAGCCACAAGGCAAAGCCTCCTTCCGCAGAAAACCCCAGGAAGATGCCGGGCATTTTAAAGGCCTGGCTAAGCTAGCAGACAGGACATCATTCGAAACCAGACACGACCAGAAAGACGAGTCCGGAAAGGCCTGCCAGCCTGGAGCTGGGTCTGCCCTGGGGGCAACTGCCCCTCTCTGGCAGCCCCTGATGAGTGGGGGAGGTCTGGGGCCTTCAGAGTGGGGTCCGACTGGAGACCCCTGGAAGGTGACACCCCCAAGGATGAATTAGAAACAGCCACCCGCCAGAGGAAACAGTTGAGGTACTTCCCAGTCCCTGCCTTCCCTTTGGGTGAAGCAGGAAAAAAAAAAAAATCTCCTGGGAATTCCTAATCACAAGCCACCCTGACAGGGCTGCAGGCCTCACCCGACACCGAATTCACTCTTGTGTGGTTCCAGAACTCCAAGCCAAAAACTCAGCTTCAGGGGGTCCTGTGAGGCAGTGTCCACAAGCGCCAGCACAAACCCTCCTTGGAGGAGAAAACTTTGAACCCAGGTGTCCAAGAATTACCATAGATAAAATTCCACAGAGCATGCACTGGCAATCAAAAATCACACAACACAAAGCAAAGCAGCCTCACCACAAGGAGGCAGCACGCAGCCACGGGCACAGCCAGACCTGTGCAGGCCGCAGGCATGGGGCCCTTCAGGTAAAGAAGACAAAACCCCAGCCAGTCACGGTGGCTCACGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGCGGACGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAAAAAAAAATACAAAAATTAGCCAAGTGCGGTGGCACACGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGAGAACTGCTTCAATCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCGGCCTGGGTGACAAAGTGAGGCTCCATCTCAAAAAAAAAAAAAAAAAAGAAGAAGACAA
|
pathogenic
| 321,119 |
Gene FTCD (formimidoyltransferase cyclodeaminase) variant at chromosome 21, position 46152980—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Glutamate_formiminotransferase_deficiency']
|
GACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCACCTGGGACTCCGGAAGTCGCTGTTTCCCAGCAGTATGGAAATGCTGCCACATGTTAACAAAGGGAAGTCCTGCCTCGTTCCCTGGAAAATCCCCAGGAGGCCAGAGCTCCCCAGCTTCACTCCGCCCCTGACCTGCCGACCTGCGCGGTCCCCGCACGGTGTGGACGCGGAGGCTGGGCCGGTCTGCAGGTGGGAGGCCGAACCCTGTCCGGCCGGTGCCCCATCCCCACCGACCTCCCCGCCTGAGGCTCTCAGCCTCTAACCCTTTCCCGAGGGGCTGGGTGGGGCTCCATGGGGTCAGTGAACGGGGTCACCTGGTCCTTCCCGCGGCCCTGCTCCCGCAGGTTGAGCGCGATGCGGTGGGCTTGCTCCTTTGTGCCGAGCAGGTTGATGTTAAAAGCAATGAGGAACTTCCTCGCCCCCGTGGCCGTGGCCCCCCAACTGGGGACAAAGGAGCTGGGACCAAAGTCGGGCGCCCAGTCGGCCTGCTGGAGCTGTGAGCAAGTTCGCTCTGGGGTGAGACATCCCCCACGGGAGGGAACAGCCCCCCGGGGTCCCGGGAAGGAGGGGCCCGGCCCAGCCACCCCAGCCAGGACAAAGGGGCAGGTCCACCTCCTTCCCAGGCCCGACCGCCCGGGGTGGGGGCACCTTCTTAGGGAGGGCCTCGTACTCCCCGGCCCGGATGGCCGGCAGGGTCCGGCGACTGTCCATCCTGGCTGCCTCGCCGTACAGGTAAACTGCAGGAGAGCCCGGCGGTCAGGCCTGGACCGGCAGGGGGTCCAGGACTCAGTTCCTGGAGGACGCAGGTGGAGGGGCTCCCTCCAGCCTAACCCAGGAATGGGCCTCTACTGCACCCTCTCCTGGGGAGTGCCCGTTCTCCGCCTTGGATGGATGCGGGTGGTCCCAGTGGACCCTCAGTGTGGGCCAGCACCCCTGCCCACCCCCTCCTCAGAGGGCCCTGAAAAGGCGAATTGCAGGGTTAGGATGGAACATGTGGGACATGCTAACGGCAGGACGTTCATGCTTCTGTTTTCTTTGTATGATAAACAGAACCGCAAGCAACCACATAAATATAACGGCAGAGAAGAGGAAAAACTCGTGAACCCGCACACCAGTGTGACTGTGACGTGGGCCCTGCGTCGGGATTTCCTTCGGGGGGACTGGCATGACCGTGACGGGGGTTACGTGTGCCCTGCATGCCGGCGTGACCGTGACGGGGGTTACGTGTGCCCTGCACGCTGGCGTGACTGTGACCTACGTCCCTGCCTCGGGATTTCTTTCCAGGAGCGCTGGGTTGGTGCAGCCTAGGGGTGGGTATGCACTTTGTCCCGTTTGTCTCTGTTTGTTTCATATCATTTTCTTGATTTAGTTAATTTCCCAAAGTGAAATTATTCTGCTCTAGAAGGCGTGGACTTTAAGGCTCTTGGTTTGCCTGTGCAGCTGCTCTGCGGTGTAGTCTGAGGAGGCCCCGGGCCTGCACGGCCGCAGGCGAGGCTGCGTTTATTTCGGTATTGAGGGAGCTGCGCTTCTGCATGTTGGCTTTTTGGAACACTCTGCCCTTGCAAGAGCAGTCAAGGGCAGGGAACTGGGGGATACAGAAGGAGCCAATAACCCACACCAATGAGACGGGAGCAGAGTGAGGGGGGCGGGGGGGCACGCTCACCTGGCACGTCCAGCTCCTCTGCCAGCCTCTGGCCAAAGGCCTGGGCGCAGAGCACACACTCATCCACGCTGACGCCCCTCACGGGGATGAAGGGGCAGACGTCTAGGGCCCCCATGCGGGGGTGCTCTCCTGCAGAGAGACGGCGAGGCCGGGCAGGAGGCCAGGTGTGGGAGCGGGTGGGAGCTCCACGGGGTTCTCGGACCCTCTGTCCTCTCCGGCCTGGGCAGCCCCCAGTCCACACACCCAGCAAGCTGCTCACACTGACCCACAGGGAGGAGGCCGGCCCTGGGCGCTCCCAGCCCTGCCCCAGCGGCAGCACCAGCCCTCCCGGGACAACGGAAGTTCCCGCACCGTCCTCCCAGCCAGTGTGGGGGAGGTCCTTCAGCCCAGGAGCAGCAGCACCTGAGCGGGTGGTCTGGCATCTCTGGGATAAACCTGTCCCTCTCCTAACACTCACAAAAATAACTTTGAAAGGGGTGCAAAGCTCAGCTCTCAGGCAGCCCCGGCCAGGCCAAGAGGGGGCGCTCGAGGCTGGGTTCCGGCCACCCCAACCCCCTCCCCTGAAGCCGAGAATCCACTCTGCGTTTCCAGAGCATTCTTCTCACTAGCTGAGTCCCTCGCTGTGGCTACACCAAGCCGTGGGTCGGCGCCCACCCCAGGGGACGCCAGCCTCCCCCGCCTTTGCCGCCACCGCCCAGGGCTGGCCACTTAGAGATAAGCTTCTCATCCATCCACCCCTCAGGATCACTGTGGATCCCTGGCCTCTCATGAGCGGCCCACAGCCCAGCCCCTGGCCAGCGCCCGTGTGTCCACACACCTTTGGCCCTGCCTGCCCACCGAGGTGTTTGGCTTGTGGGCTGTTGACAGGTCAGCTTCCAGGCAGCCCTTCCCCCACCAGTGCCTGCTCCAAGACTGGCTCTCAGCCCCCTTGACGAGTGGGCAGGTGGACGGGGCCCACAAACCTTCCCCGGCGTGGCCCCCTCCCCCCACCCAGCCGTGAAGGTGGCCCGGTGCTGTGGGAGCGTGGCGACCTGGGGGTCCCCCAGAGCACAGCCCTGCAGGCAGGATGGGGGCCATGACCCCCACACTCCAGGGTCCTCCTAGGAGAGCCAGAGCCAGCCCCACTGGACCCCACGTTCCAAGCCTGGGCCCCGGGCCTACCCCCTCTCCCAGGACACCAGGACAGGGCTCGGCCCTGACATTCTGAGACACGGCAGCCACAGGAGAGCCCAGAGACCTCACCTTGGTGCCTGCTCATGTCGATAAGTCGGGAAGCTACCCGGGCAGCGTTGAGGGCCCCCTCCACCACGCACTCCGGCGGCCCCACGAAGGTGTACACGGTGCGGTTGGTGGAAGGGCCTGCGTCCACATCCAGCAGCACGCAGCCCGGGGTCTGTGTGATGGCTCCAGAGATGGCGTCGATCACCTGGGACACAGGCCCGGCCCCCACACCTCAGTCTCCCCGTTTGAAAGAAGGAAAAGGAGCTTGGAGGTGGCTGCACCCCGAGACACAAATGGGGGCTGAGGAGGCGGGCCAAGCCTTTGGGGGCTCTCCGACAAGCTGAGCTCCCACCGAAAGTGCCCGCACACAGCGGCCGCCCGGGAACCCTCACAGCAGCCACAGTCACTCCAGCCCAAGCACAGTCCCCACAAGGGGCTGCAGGTGGTGCCTCCAGGAGAGACTCACGGGCTCTGCTCCGACAGACAGATGCCAGAGACGTGGCCGGGGATCCAAGAAGGTGACCACAGGCGCAGGTCACAGAGGGGCCGGGACCCCCACCCCCGAGCAGGGGAGGGACAGATCACCAGCATGGGGGAGGGGCCTGAAGGGCCTAGAACCTTCCGGGTGGCAGGACTGCTGGGAGCAGGGGCTCAGCCCCAAATCTTGCCCTGTCCCAGGGCCTTGGTGCTGGCTGGAATCCCGGCATGACGAGGCCTCCCTGCACCCCTGCGGGTGACCCCTGTGGCCTGGTGCTGCGCTCTGGGAGGCCTTCCAGGTGGCCCTTAGGGCCTGCGTTTGTTCCCGGAGGAGCCTGGACCTCAGGGCTGTGGAAGGCGAGAGGCCGGACCTGGGGGCCTGCTGCCCCCTCTGTGCCTACTTCGTTTTGGGTCCAGTGAGGA
|
GACTCTGACCTCTGCCCTTGGCCGGGGCCTAAAGCAGGACTTAGAGGTCCCTGTGCTTTTGTGCTGAGTCTGCAGGTCGGGAAGCCGGGTCCCAGGACCTTGGCTGTTTGTGGGACCGGGGTCTCTGAGTGGGGAACAGATGGGCAGGTGGTCCCCCCCGCTTTCTCCGGGTATCTATACCCGGAGTGACGCTCAGACCGGGTGACCACTGCTGTGCAGACGTGGAGGGAAAGGCCTGGGGGCACCTGAAGGTTTGTAGGGGTGTCGGGGCTCCCAAGGCATCTGGAGGGATATGGGGGGCCCCTGAGGGCACCTGGGACTCCGGAAGTCGCTGTTTCCCAGCAGTATGGAAATGCTGCCACATGTTAACAAAGGGAAGTCCTGCCTCGTTCCCTGGAAAATCCCCAGGAGGCCAGAGCTCCCCAGCTTCACTCCGCCCCTGACCTGCCGACCTGCGCGGTCCCCGCACGGTGTGGACGCGGAGGCTGGGCCGGTCTGCAGGTGGGAGGCCGAACCCTGTCCGGCCGGTGCCCCATCCCCACCGACCTCCCCGCCTGAGGCTCTCAGCCTCTAACCCTTTCCCGAGGGGCTGGGTGGGGCTCCATGGGGTCAGTGAACGGGGTCACCTGGTCCTTCCCGCGGCCCTGCTCCCGCAGGTTGAGCGCGATGCGGTGGGCTTGCTCCTTTGTGCCGAGCAGGTTGATGTTAAAAGCAATGAGGAACTTCCTCGCCCCCGTGGCCGTGGCCCCCCAACTGGGGACAAAGGAGCTGGGACCAAAGTCGGGCGCCCAGTCGGCCTGCTGGAGCTGTGAGCAAGTTCGCTCTGGGGTGAGACATCCCCCACGGGAGGGAACAGCCCCCCGGGGTCCCGGGAAGGAGGGGCCCGGCCCAGCCACCCCAGCCAGGACAAAGGGGCAGGTCCACCTCCTTCCCAGGCCCGACCGCCCGGGGTGGGGGCACCTTCTTAGGGAGGGCCTCGTACTCCCCGGCCCGGATGGCCGGCAGGGTCCGGCGACTGTCCATCCTGGCTGCCTCGCCGTACAGGTAAACTGCAGGAGAGCCCGGCGGTCAGGCCTGGACCGGCAGGGGGTCCAGGACTCAGTTCCTGGAGGACGCAGGTGGAGGGGCTCCCTCCAGCCTAACCCAGGAATGGGCCTCTACTGCACCCTCTCCTGGGGAGTGCCCGTTCTCCGCCTTGGATGGATGCGGGTGGTCCCAGTGGACCCTCAGTGTGGGCCAGCACCCCTGCCCACCCCCTCCTCAGAGGGCCCTGAAAAGGCGAATTGCAGGGTTAGGATGGAACATGTGGGACATGCTAACGGCAGGACGTTCATGCTTCTGTTTTCTTTGTATGATAAACAGAACCGCAAGCAACCACATAAATATAACGGCAGAGAAGAGGAAAAACTCGTGAACCCGCACACCAGTGTGACTGTGACGTGGGCCCTGCGTCGGGATTTCCTTCGGGGGGACTGGCATGACCGTGACGGGGGTTACGTGTGCCCTGCATGCCGGCGTGACCGTGACGGGGGTTACGTGTGCCCTGCACGCTGGCGTGACTGTGACCTACGTCCCTGCCTCGGGATTTCTTTCCAGGAGCGCTGGGTTGGTGCAGCCTAGGGGTGGGTATGCACTTTGTCCCGTTTGTCTCTGTTTGTTTCATATCATTTTCTTGATTTAGTTAATTTCCCAAAGTGAAATTATTCTGCTCTAGAAGGCGTGGACTTTAAGGCTCTTGGTTTGCCTGTGCAGCTGCTCTGCGGTGTAGTCTGAGGAGGCCCCGGGCCTGCACGGCCGCAGGCGAGGCTGCGTTTATTTCGGTATTGAGGGAGCTGCGCTTCTGCATGTTGGCTTTTTGGAACACTCTGCCCTTGCAAGAGCAGTCAAGGGCAGGGAACTGGGGGATACAGAAGGAGCCAATAACCCACACCAATGAGACGGGAGCAGAGTGAGGGGGGCGGGGGGGCACGCTCACCTGGCACGTCCAGCTCCTCTGCCAGCCTCTGGCCAAAGGCCTGGGCGCAGAGCACACACTCATCCACGCTGACGCCCCCTCACGGGGATGAAGGGGCAGACGTCTAGGGCCCCCATGCGGGGGTGCTCTCCTGCAGAGAGACGGCGAGGCCGGGCAGGAGGCCAGGTGTGGGAGCGGGTGGGAGCTCCACGGGGTTCTCGGACCCTCTGTCCTCTCCGGCCTGGGCAGCCCCCAGTCCACACACCCAGCAAGCTGCTCACACTGACCCACAGGGAGGAGGCCGGCCCTGGGCGCTCCCAGCCCTGCCCCAGCGGCAGCACCAGCCCTCCCGGGACAACGGAAGTTCCCGCACCGTCCTCCCAGCCAGTGTGGGGGAGGTCCTTCAGCCCAGGAGCAGCAGCACCTGAGCGGGTGGTCTGGCATCTCTGGGATAAACCTGTCCCTCTCCTAACACTCACAAAAATAACTTTGAAAGGGGTGCAAAGCTCAGCTCTCAGGCAGCCCCGGCCAGGCCAAGAGGGGGCGCTCGAGGCTGGGTTCCGGCCACCCCAACCCCCTCCCCTGAAGCCGAGAATCCACTCTGCGTTTCCAGAGCATTCTTCTCACTAGCTGAGTCCCTCGCTGTGGCTACACCAAGCCGTGGGTCGGCGCCCACCCCAGGGGACGCCAGCCTCCCCCGCCTTTGCCGCCACCGCCCAGGGCTGGCCACTTAGAGATAAGCTTCTCATCCATCCACCCCTCAGGATCACTGTGGATCCCTGGCCTCTCATGAGCGGCCCACAGCCCAGCCCCTGGCCAGCGCCCGTGTGTCCACACACCTTTGGCCCTGCCTGCCCACCGAGGTGTTTGGCTTGTGGGCTGTTGACAGGTCAGCTTCCAGGCAGCCCTTCCCCCACCAGTGCCTGCTCCAAGACTGGCTCTCAGCCCCCTTGACGAGTGGGCAGGTGGACGGGGCCCACAAACCTTCCCCGGCGTGGCCCCCTCCCCCCACCCAGCCGTGAAGGTGGCCCGGTGCTGTGGGAGCGTGGCGACCTGGGGGTCCCCCAGAGCACAGCCCTGCAGGCAGGATGGGGGCCATGACCCCCACACTCCAGGGTCCTCCTAGGAGAGCCAGAGCCAGCCCCACTGGACCCCACGTTCCAAGCCTGGGCCCCGGGCCTACCCCCTCTCCCAGGACACCAGGACAGGGCTCGGCCCTGACATTCTGAGACACGGCAGCCACAGGAGAGCCCAGAGACCTCACCTTGGTGCCTGCTCATGTCGATAAGTCGGGAAGCTACCCGGGCAGCGTTGAGGGCCCCCTCCACCACGCACTCCGGCGGCCCCACGAAGGTGTACACGGTGCGGTTGGTGGAAGGGCCTGCGTCCACATCCAGCAGCACGCAGCCCGGGGTCTGTGTGATGGCTCCAGAGATGGCGTCGATCACCTGGGACACAGGCCCGGCCCCCACACCTCAGTCTCCCCGTTTGAAAGAAGGAAAAGGAGCTTGGAGGTGGCTGCACCCCGAGACACAAATGGGGGCTGAGGAGGCGGGCCAAGCCTTTGGGGGCTCTCCGACAAGCTGAGCTCCCACCGAAAGTGCCCGCACACAGCGGCCGCCCGGGAACCCTCACAGCAGCCACAGTCACTCCAGCCCAAGCACAGTCCCCACAAGGGGCTGCAGGTGGTGCCTCCAGGAGAGACTCACGGGCTCTGCTCCGACAGACAGATGCCAGAGACGTGGCCGGGGATCCAAGAAGGTGACCACAGGCGCAGGTCACAGAGGGGCCGGGACCCCCACCCCCGAGCAGGGGAGGGACAGATCACCAGCATGGGGGAGGGGCCTGAAGGGCCTAGAACCTTCCGGGTGGCAGGACTGCTGGGAGCAGGGGCTCAGCCCCAAATCTTGCCCTGTCCCAGGGCCTTGGTGCTGGCTGGAATCCCGGCATGACGAGGCCTCCCTGCACCCCTGCGGGTGACCCCTGTGGCCTGGTGCTGCGCTCTGGGAGGCCTTCCAGGTGGCCCTTAGGGCCTGCGTTTGTTCCCGGAGGAGCCTGGACCTCAGGGCTGTGGAAGGCGAGAGGCCGGACCTGGGGGCCTGCTGCCCCCTCTGTGCCTACTTCGTTTTGGGTCCAGTGAGG
|
pathogenic
| 321,132 |
Determine if the mutation at chromosome 21, position 46154202 in gene FTCD (formimidoyltransferase cyclodeaminase) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Glutamate_formiminotransferase_deficiency']
|
ACCCTCAGTGTGGGCCAGCACCCCTGCCCACCCCCTCCTCAGAGGGCCCTGAAAAGGCGAATTGCAGGGTTAGGATGGAACATGTGGGACATGCTAACGGCAGGACGTTCATGCTTCTGTTTTCTTTGTATGATAAACAGAACCGCAAGCAACCACATAAATATAACGGCAGAGAAGAGGAAAAACTCGTGAACCCGCACACCAGTGTGACTGTGACGTGGGCCCTGCGTCGGGATTTCCTTCGGGGGGACTGGCATGACCGTGACGGGGGTTACGTGTGCCCTGCATGCCGGCGTGACCGTGACGGGGGTTACGTGTGCCCTGCACGCTGGCGTGACTGTGACCTACGTCCCTGCCTCGGGATTTCTTTCCAGGAGCGCTGGGTTGGTGCAGCCTAGGGGTGGGTATGCACTTTGTCCCGTTTGTCTCTGTTTGTTTCATATCATTTTCTTGATTTAGTTAATTTCCCAAAGTGAAATTATTCTGCTCTAGAAGGCGTGGACTTTAAGGCTCTTGGTTTGCCTGTGCAGCTGCTCTGCGGTGTAGTCTGAGGAGGCCCCGGGCCTGCACGGCCGCAGGCGAGGCTGCGTTTATTTCGGTATTGAGGGAGCTGCGCTTCTGCATGTTGGCTTTTTGGAACACTCTGCCCTTGCAAGAGCAGTCAAGGGCAGGGAACTGGGGGATACAGAAGGAGCCAATAACCCACACCAATGAGACGGGAGCAGAGTGAGGGGGGCGGGGGGGCACGCTCACCTGGCACGTCCAGCTCCTCTGCCAGCCTCTGGCCAAAGGCCTGGGCGCAGAGCACACACTCATCCACGCTGACGCCCCTCACGGGGATGAAGGGGCAGACGTCTAGGGCCCCCATGCGGGGGTGCTCTCCTGCAGAGAGACGGCGAGGCCGGGCAGGAGGCCAGGTGTGGGAGCGGGTGGGAGCTCCACGGGGTTCTCGGACCCTCTGTCCTCTCCGGCCTGGGCAGCCCCCAGTCCACACACCCAGCAAGCTGCTCACACTGACCCACAGGGAGGAGGCCGGCCCTGGGCGCTCCCAGCCCTGCCCCAGCGGCAGCACCAGCCCTCCCGGGACAACGGAAGTTCCCGCACCGTCCTCCCAGCCAGTGTGGGGGAGGTCCTTCAGCCCAGGAGCAGCAGCACCTGAGCGGGTGGTCTGGCATCTCTGGGATAAACCTGTCCCTCTCCTAACACTCACAAAAATAACTTTGAAAGGGGTGCAAAGCTCAGCTCTCAGGCAGCCCCGGCCAGGCCAAGAGGGGGCGCTCGAGGCTGGGTTCCGGCCACCCCAACCCCCTCCCCTGAAGCCGAGAATCCACTCTGCGTTTCCAGAGCATTCTTCTCACTAGCTGAGTCCCTCGCTGTGGCTACACCAAGCCGTGGGTCGGCGCCCACCCCAGGGGACGCCAGCCTCCCCCGCCTTTGCCGCCACCGCCCAGGGCTGGCCACTTAGAGATAAGCTTCTCATCCATCCACCCCTCAGGATCACTGTGGATCCCTGGCCTCTCATGAGCGGCCCACAGCCCAGCCCCTGGCCAGCGCCCGTGTGTCCACACACCTTTGGCCCTGCCTGCCCACCGAGGTGTTTGGCTTGTGGGCTGTTGACAGGTCAGCTTCCAGGCAGCCCTTCCCCCACCAGTGCCTGCTCCAAGACTGGCTCTCAGCCCCCTTGACGAGTGGGCAGGTGGACGGGGCCCACAAACCTTCCCCGGCGTGGCCCCCTCCCCCCACCCAGCCGTGAAGGTGGCCCGGTGCTGTGGGAGCGTGGCGACCTGGGGGTCCCCCAGAGCACAGCCCTGCAGGCAGGATGGGGGCCATGACCCCCACACTCCAGGGTCCTCCTAGGAGAGCCAGAGCCAGCCCCACTGGACCCCACGTTCCAAGCCTGGGCCCCGGGCCTACCCCCTCTCCCAGGACACCAGGACAGGGCTCGGCCCTGACATTCTGAGACACGGCAGCCACAGGAGAGCCCAGAGACCTCACCTTGGTGCCTGCTCATGTCGATAAGTCGGGAAGCTACCCGGGCAGCGTTGAGGGCCCCCTCCACCACGCACTCCGGCGGCCCCACGAAGGTGTACACGGTGCGGTTGGTGGAAGGGCCTGCGTCCACATCCAGCAGCACGCAGCCCGGGGTCTGTGTGATGGCTCCAGAGATGGCGTCGATCACCTGGGACACAGGCCCGGCCCCCACACCTCAGTCTCCCCGTTTGAAAGAAGGAAAAGGAGCTTGGAGGTGGCTGCACCCCGAGACACAAATGGGGGCTGAGGAGGCGGGCCAAGCCTTTGGGGGCTCTCCGACAAGCTGAGCTCCCACCGAAAGTGCCCGCACACAGCGGCCGCCCGGGAACCCTCACAGCAGCCACAGTCACTCCAGCCCAAGCACAGTCCCCACAAGGGGCTGCAGGTGGTGCCTCCAGGAGAGACTCACGGGCTCTGCTCCGACAGACAGATGCCAGAGACGTGGCCGGGGATCCAAGAAGGTGACCACAGGCGCAGGTCACAGAGGGGCCGGGACCCCCACCCCCGAGCAGGGGAGGGACAGATCACCAGCATGGGGGAGGGGCCTGAAGGGCCTAGAACCTTCCGGGTGGCAGGACTGCTGGGAGCAGGGGCTCAGCCCCAAATCTTGCCCTGTCCCAGGGCCTTGGTGCTGGCTGGAATCCCGGCATGACGAGGCCTCCCTGCACCCCTGCGGGTGACCCCTGTGGCCTGGTGCTGCGCTCTGGGAGGCCTTCCAGGTGGCCCTTAGGGCCTGCGTTTGTTCCCGGAGGAGCCTGGACCTCAGGGCTGTGGAAGGCGAGAGGCCGGACCTGGGGGCCTGCTGCCCCCTCTGTGCCTACTTCGTTTTGGGTCCAGTGAGGATGGTGGCTGCAGGGTGGGGGCTCAGCAAGCTAACTCCAGTGGAGATGGAGAGGCGGCAGTGGGGACCATGCTGGGCCACCTCGTGTGGCCTCACACAGCCCTTTCAGTCAGTGGCAGGAGCCCCATTTTCAGGGGGGAGCACCAAGGCCCTTTGAGGCCCAGAGATCTGCCCAACCCCCCACCGAAAGCACCCGAAAGGCCCCTGAAGCCACAGCCAAGCCTCAGCCCCCACAAGCACCAGTCGTGTTCCACCCACCCCTGGGTCAGGCACTCCCCAGGGCCCTGAGCCACGGGATGTCCTTGGGGCCCACGGGCAGCGGCTCTGCCCATCCTGGGAAGACGACCCGGGACACCAAGCCCACCACCTCCTCCATGGCCTGGGCCTTAGCCACTCAAGCTGCCCCATCAGCCCTAGATGCTTGACCAGCTCCTCGGGCCTCACCTCCTGGTTCTTCCCCTCCGAAAAGTTGGGGACGCATTCCACCAGCTGGGACATGGCCAGCACCTTGATCCAGATGCTCCTCTCTGGGCAGATGGAAGGACAGGGCCAGTGCTCCGCAGCCGCCGCCAGGGCCTTTATACGCTCACCGGCAGCACCTCCCCACCGGCTTCTCATTAACCAGCAAGGCACAAGGAGCAGTGGGGCCAAGGTCCCTGTGCAGCCGCGGAGTGGGGTGCTGCAGAGCCACCCCGGGTGCTGTTGACCCAGAGGGGATGGCTCCACTCAGCCAGAGTGTGGGTTCCCGGAAAAGAAGCACATGCCAGGGTGAAGGGGCATGTGCCGAGGACCCCCAGGAGCATCAGGCCAGCCTGGCTGGAATCCTGTCGTGACGAGGCCTCCCTGTGCCACTGCGGGTGACCCTCGTGACCCTGTGCTGCCTTCTGGGAGGCCTTCCAGGCAGCCCGTGGGGCCTGCGTTTGTTCCTGGAGGAGCCTGGACCCCTGGGGCTGTGGAGGGCGAGAGGCCAGCATGAGGCCCTGGCTCGCAGCACCCAACTGAGGTCAGCTCAGCTCAGACAGGAGAGTGCAGGGGAGCACGCGTGTGAGAGTGAGTGAGGATACACGTGAGGGCAGGGCAGGGGAACACGTGAGAGTGCAGATACACGTGAGCACAAGGCAGGGGAGCACATGTGTGAGAGCGTGGATACATGTGAGCACAGGACAGGGGAACACGTGTGAGAGTGAGCGAGGATACATGTGAGTGTGGGGTAGGGGAGCACAC
|
ACCCTCAGTGTGGGCCAGCACCCCTGCCCACCCCCTCCTCAGAGGGCCCTGAAAAGGCGAATTGCAGGGTTAGGATGGAACATGTGGGACATGCTAACGGCAGGACGTTCATGCTTCTGTTTTCTTTGTATGATAAACAGAACCGCAAGCAACCACATAAATATAACGGCAGAGAAGAGGAAAAACTCGTGAACCCGCACACCAGTGTGACTGTGACGTGGGCCCTGCGTCGGGATTTCCTTCGGGGGGACTGGCATGACCGTGACGGGGGTTACGTGTGCCCTGCATGCCGGCGTGACCGTGACGGGGGTTACGTGTGCCCTGCACGCTGGCGTGACTGTGACCTACGTCCCTGCCTCGGGATTTCTTTCCAGGAGCGCTGGGTTGGTGCAGCCTAGGGGTGGGTATGCACTTTGTCCCGTTTGTCTCTGTTTGTTTCATATCATTTTCTTGATTTAGTTAATTTCCCAAAGTGAAATTATTCTGCTCTAGAAGGCGTGGACTTTAAGGCTCTTGGTTTGCCTGTGCAGCTGCTCTGCGGTGTAGTCTGAGGAGGCCCCGGGCCTGCACGGCCGCAGGCGAGGCTGCGTTTATTTCGGTATTGAGGGAGCTGCGCTTCTGCATGTTGGCTTTTTGGAACACTCTGCCCTTGCAAGAGCAGTCAAGGGCAGGGAACTGGGGGATACAGAAGGAGCCAATAACCCACACCAATGAGACGGGAGCAGAGTGAGGGGGGCGGGGGGGCACGCTCACCTGGCACGTCCAGCTCCTCTGCCAGCCTCTGGCCAAAGGCCTGGGCGCAGAGCACACACTCATCCACGCTGACGCCCCTCACGGGGATGAAGGGGCAGACGTCTAGGGCCCCCATGCGGGGGTGCTCTCCTGCAGAGAGACGGCGAGGCCGGGCAGGAGGCCAGGTGTGGGAGCGGGTGGGAGCTCCACGGGGTTCTCGGACCCTCTGTCCTCTCCGGCCTGGGCAGCCCCCAGTCCACACACCCAGCAAGCTGCTCACACTGACCCACAGGGAGGAGGCCGGCCCTGGGCGCTCCCAGCCCTGCCCCAGCGGCAGCACCAGCCCTCCCGGGACAACGGAAGTTCCCGCACCGTCCTCCCAGCCAGTGTGGGGGAGGTCCTTCAGCCCAGGAGCAGCAGCACCTGAGCGGGTGGTCTGGCATCTCTGGGATAAACCTGTCCCTCTCCTAACACTCACAAAAATAACTTTGAAAGGGGTGCAAAGCTCAGCTCTCAGGCAGCCCCGGCCAGGCCAAGAGGGGGCGCTCGAGGCTGGGTTCCGGCCACCCCAACCCCCTCCCCTGAAGCCGAGAATCCACTCTGCGTTTCCAGAGCATTCTTCTCACTAGCTGAGTCCCTCGCTGTGGCTACACCAAGCCGTGGGTCGGCGCCCACCCCAGGGGACGCCAGCCTCCCCCGCCTTTGCCGCCACCGCCCAGGGCTGGCCACTTAGAGATAAGCTTCTCATCCATCCACCCCTCAGGATCACTGTGGATCCCTGGCCTCTCATGAGCGGCCCACAGCCCAGCCCCTGGCCAGCGCCCGTGTGTCCACACACCTTTGGCCCTGCCTGCCCACCGAGGTGTTTGGCTTGTGGGCTGTTGACAGGTCAGCTTCCAGGCAGCCCTTCCCCCACCAGTGCCTGCTCCAAGACTGGCTCTCAGCCCCCTTGACGAGTGGGCAGGTGGACGGGGCCCACAAACCTTCCCCGGCGTGGCCCCCTCCCCCCACCCAGCCGTGAAGGTGGCCCGGTGCTGTGGGAGCGTGGCGACCTGGGGGTCCCCCAGAGCACAGCCCTGCAGGCAGGATGGGGGCCATGACCCCCACACTCCAGGGTCCTCCTAGGAGAGCCAGAGCCAGCCCCACTGGACCCCACGTTCCAAGCCTGGGCCCCGGGCCTACCCCCTCTCCCAGGACACCAGGACAGGGCTCGGCCCTGACATTCTGAGACACGGCAGCCACAGGAGAGCCCAGAGACCTCACCTTGGTGCCTGCTCATGTCGATAAGTCGGGAAGCTACCCGGGCAGCGTTGAGGGCCCCTCCACCACGCACTCCGGCGGCCCCACGAAGGTGTACACGGTGCGGTTGGTGGAAGGGCCTGCGTCCACATCCAGCAGCACGCAGCCCGGGGTCTGTGTGATGGCTCCAGAGATGGCGTCGATCACCTGGGACACAGGCCCGGCCCCCACACCTCAGTCTCCCCGTTTGAAAGAAGGAAAAGGAGCTTGGAGGTGGCTGCACCCCGAGACACAAATGGGGGCTGAGGAGGCGGGCCAAGCCTTTGGGGGCTCTCCGACAAGCTGAGCTCCCACCGAAAGTGCCCGCACACAGCGGCCGCCCGGGAACCCTCACAGCAGCCACAGTCACTCCAGCCCAAGCACAGTCCCCACAAGGGGCTGCAGGTGGTGCCTCCAGGAGAGACTCACGGGCTCTGCTCCGACAGACAGATGCCAGAGACGTGGCCGGGGATCCAAGAAGGTGACCACAGGCGCAGGTCACAGAGGGGCCGGGACCCCCACCCCCGAGCAGGGGAGGGACAGATCACCAGCATGGGGGAGGGGCCTGAAGGGCCTAGAACCTTCCGGGTGGCAGGACTGCTGGGAGCAGGGGCTCAGCCCCAAATCTTGCCCTGTCCCAGGGCCTTGGTGCTGGCTGGAATCCCGGCATGACGAGGCCTCCCTGCACCCCTGCGGGTGACCCCTGTGGCCTGGTGCTGCGCTCTGGGAGGCCTTCCAGGTGGCCCTTAGGGCCTGCGTTTGTTCCCGGAGGAGCCTGGACCTCAGGGCTGTGGAAGGCGAGAGGCCGGACCTGGGGGCCTGCTGCCCCCTCTGTGCCTACTTCGTTTTGGGTCCAGTGAGGATGGTGGCTGCAGGGTGGGGGCTCAGCAAGCTAACTCCAGTGGAGATGGAGAGGCGGCAGTGGGGACCATGCTGGGCCACCTCGTGTGGCCTCACACAGCCCTTTCAGTCAGTGGCAGGAGCCCCATTTTCAGGGGGGAGCACCAAGGCCCTTTGAGGCCCAGAGATCTGCCCAACCCCCCACCGAAAGCACCCGAAAGGCCCCTGAAGCCACAGCCAAGCCTCAGCCCCCACAAGCACCAGTCGTGTTCCACCCACCCCTGGGTCAGGCACTCCCCAGGGCCCTGAGCCACGGGATGTCCTTGGGGCCCACGGGCAGCGGCTCTGCCCATCCTGGGAAGACGACCCGGGACACCAAGCCCACCACCTCCTCCATGGCCTGGGCCTTAGCCACTCAAGCTGCCCCATCAGCCCTAGATGCTTGACCAGCTCCTCGGGCCTCACCTCCTGGTTCTTCCCCTCCGAAAAGTTGGGGACGCATTCCACCAGCTGGGACATGGCCAGCACCTTGATCCAGATGCTCCTCTCTGGGCAGATGGAAGGACAGGGCCAGTGCTCCGCAGCCGCCGCCAGGGCCTTTATACGCTCACCGGCAGCACCTCCCCACCGGCTTCTCATTAACCAGCAAGGCACAAGGAGCAGTGGGGCCAAGGTCCCTGTGCAGCCGCGGAGTGGGGTGCTGCAGAGCCACCCCGGGTGCTGTTGACCCAGAGGGGATGGCTCCACTCAGCCAGAGTGTGGGTTCCCGGAAAAGAAGCACATGCCAGGGTGAAGGGGCATGTGCCGAGGACCCCCAGGAGCATCAGGCCAGCCTGGCTGGAATCCTGTCGTGACGAGGCCTCCCTGTGCCACTGCGGGTGACCCTCGTGACCCTGTGCTGCCTTCTGGGAGGCCTTCCAGGCAGCCCGTGGGGCCTGCGTTTGTTCCTGGAGGAGCCTGGACCCCTGGGGCTGTGGAGGGCGAGAGGCCAGCATGAGGCCCTGGCTCGCAGCACCCAACTGAGGTCAGCTCAGCTCAGACAGGAGAGTGCAGGGGAGCACGCGTGTGAGAGTGAGTGAGGATACACGTGAGGGCAGGGCAGGGGAACACGTGAGAGTGCAGATACACGTGAGCACAAGGCAGGGGAGCACATGTGTGAGAGCGTGGATACATGTGAGCACAGGACAGGGGAACACGTGTGAGAGTGAGCGAGGATACATGTGAGTGTGGGGTAGGGGAGCACACN
|
pathogenic
| 321,136 |
Chromosome 21, position 46245202, gene MCM3AP: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
CATCACTCAAAGTCCAGACAAGCTTACATCGAGACTGGCAGGGCCAGTAATGACTACTCAAAAGCCACAAAATCCTCTCTAAGAGCCATCCTAGGGGGCCTGTTTCAGGGAGGTGAGTTCAGGCTCTACCAGAAACTTCCTAGCCTGTCTCAATGTTTTTAAGTCACTCACTTGAAGAGGGAAGTCCTAAGGAAAGGAAGGATAGAGACCCAAAAGAAAAGCAGCAACATCAACTAAACATCTTCCTTTGCAGAAACTGGACCAGGAAAGTCTCGTGAGGAGCTGATCCCATTGCATCAAGCTCTAATTACCTGATGTAACAGGAAGCCGGGGGGGCGTCCAGTCTCTCAGCTTGTGGTTGATACACAAGGCGATAAGATCATCCCATGGGATCTCCATGACCGAGGGGCCTGCCCCATGGACTGGGGAGGGACTCTTGCTCTTCCACCTACAGTAGGTTCTGTGGAGCAGGTTCTCCACCTGGGACTGGAGGACAGGCTGTGTCTGGCGTGAGCTGGGGATCTGGGAGGCGTACTGGACAACCATGGAGCACACGGGGAGCCAGGGGGCTGGGGAGAAAGTGCCTCATTAGTTACAGGTTTGGCCAAAATACAGGTGAAAATGTACATGAAAACATTTTCTCAGGAGAAGGCAACTGTGAAGTTGAGAAGTCTGCTTTCTAAACACAGCAGAACCACAGTTGTTGAGGGGGAAGAGCAGCTTGCTCCCAGGGTCTAGGTGAGGGATGCAGACAGTCCCCCTTAACAGTGTTGCTAGCCAAGTTCTACCCAGAAGTTCTGACTGTACAGGCCTGTGGTTGTGCCTAGGAAATCTGTATTTTAACAAGCACCCAGATGAGTCTGGTATAAGCAGTCTTAGCTTATTTTGGGGAACCCCAACCTAACCAGAGCACCGAGGGCTTGTGCTGAGTGGTTTGCTTCCCTTTGGGTTCCTTCAATAATGAGCATGAGTTAGACCTACTACAGACCACACACCACAATTTAGAAGGGCGCCTGAGGCCCAAAGGGGAGTGTCTGTGCTAATGCCACAACTTCTGCCAGATAAGCAGCTCATTCCCTTCTGAGTGCATAGGAAGGAGCAGCCCCATGCCATACTGGGCTTGAGCCAGCCAGATGGCCTGTCGGATCTGTGTCAAAACAGCCCAAAGACCTCAGCCAGGAACAGGGGCACAGCCAGAGCCATAGAAGAAGGCCTCTTTGACAAAGAAAGAATGTTAAATCAGCACTGAGTGCCATGGCTGCGGCTTGGGGACAGGGCTACATGGTCCCCATGCTCTTTGCCCCTTGTCTGTTCTGAAAACAGGGACCCTGTGGGCAGGCAGGACAGGATCAGGGTTGGTGTTCCTCCCAGTACCACTTGTCACTTTTCTCCTGAAGCTGAGTGAACTCCCATGGACTGCCTTGCTGGTCAGGAAAGGCTAACAGCCCCCACTCCACAAAACCCAGCTTGTTCTGGCTCATGAACCCAAAGGACCAAAGGAAGGTGCAGGCGAGCACAGCATGGAGACACACGGAGGTGGACGTGCAGCCCTCACACTGGTGCCCAACACCTGCCAGACGGTTACTACAGTGAGAAGGAAGCCTGAGACTTGGCTGCAGCCACCCACCAGACCTCCCCAGGTCAAGCACGTACCCCCCAGGGGTGGAAGGTCCATCTGCGGAAGCTGGAACCCGAGCACAGCCTGCTTCAGCCAGGCCAGGTGCTCTGGGGCATTCCAGTGCAGGTGAGGAAGCAGCCGGCTGCCCCCTGCCTCAGCAAACTCAGTGACAGGCCAGGACAGGTCACACAGCTGTTCAGAGGACACCACAGAAGCCAGGAACTGCAGCACACTGTTAAACAGCTCAATGATGGCGCCAGGCTCCTGAGAAGCAAGACCGCCCAGACGCCTCTCTCTTCTGTCATGGAAAAAGCGGCCACTAAACTCATGGCCAATCCCGTCTTCGACGTACTGAATGAGAGTCTGGCAGCAGAGGTCAAGGGAATGGGGGCAGTGGGAAACCAGCCACTGCACTGCTTGCAAAACCTGAGAAGAAAGAAGAGACTTGGTTGAACAATTCACACTGTTTTTCAAAAACAGCTTTCTGAAAGGGCTTGATCCCCCAAGGTTGCCCACAGCAGGTAATACCAGAGTACTGGGCTCTCAACTGTGGTAGGAAGGGGAACAGAAGTGTCCTATGCAGTTGAGTTTAGCCTTCTAGGGCTCTGGAGACATGTCCAGTAGGGGCACTAAAGAGAGCCCCCAGATCCCACCTGGCCTGAGGAGGAGTGTGACCTGCATGGTTGCCCCATGGAAAGGCCCAGGCCCTCAGGAAACCAGCCCTGAACATCCCCTTCACCATGCACAGAAATGGAGTCTTCTCCTTTTTGGAAGGACTAACAGCTTCACTATGTGCCAAGGTGCCTTCACACCCTATGGTTATCTTACTTCCTATAGTTATTTTAATTCCTGGCACCTCTTTCTCTAAATTGTTAGCAAAGACTCCCCCTGCCCTATTTTTTTTGTTTTTGAGAAGGGGGTCTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCTGCTTCAGCCTCCGAGTAGCAGAGACTACAGGTGCGAGGAGCCACCACGCCCAGCTTCAGACTTCCTTTTTAAAGGAAACATCAAATAACATTATTTCTTCATATATTCAGAGGACAATTACCCTAGAAAAATAACTTCTGTATCTGACCTTCAGATATAAGACATGTTCATATTTTAAATTCATAGAAACAAAAACACTAAAAAATTTTACATGAACAATTTAATTTGCAGATAGCAGGACTGTGGGCAAATTTTATCTTTTATTTTGATTTCTGCTTATGTTTTTAGAAAGTTATCTGTATAAAACATACAACTGCTGCCAGGCGCAGTGGCACACCACAGTAGTCCCATATACTTGGGAGACTGAAGTGGGAAGATTGCATGAGCCCTGTAGTTTGAGGTTGCAGGGAGCTATCATCATGCCACTATACTGGGTGACAATAAAACCCTGTCTCTTAAGAAAAAGACAATGCAAACGCTAATATACACTCAATTCAAGATACAGCAAAAGGGGAAAAAACAAAATATCTTGACAGACCATTAAAAATGATGAAACCTTACCTTAGTTGAACCTTGTAGATCATTAATGGTATCAGGGATCTCGGTAACAGTGTAATCTGAAATCAGCTTAGCTGAAACCAAGTCCTGTAGCATCAGACCTTTAAGACAGACATAGATGAAGGTCACTTGCATTCTGCTGTCAGCACACCTGCTAACATATCTCACTGTGCTGACCCCACCCAGTCCTGCAGTGGACAGTCACCACAGGGGTTGCTGTCTCAGTGATTCCTGACCCCAACACTACTGGACCATCCTCAGACCCAGGGCCTCCACCCATTTATTAAACAATGCTGCTTCATAAACGAGACTTCCTTCACAAACCATCTTCTACTTCCTTCTCAACGGCGTCCCCTCCTGGGCTAGGCACAAGAACCACCAGAGGAAGCGCAGGCTGGAAGGGCTTAGCCTGCAGGAGCTGCTTGAGCTGCAGCAAGGCCGACAGCCAGTACACGTCCTCCTCTGCCATGTCCTCACTCTTCATTTTGGGGGGAAGCAGCAGCATGAGCCCACTGGCTCCCAGGAGGTCCTTCTGTGTCTCCACAGCATCAATGGCACCATCACTGAGGGCGCCATGGGCCACCTGCAACAGCATCAAGATCATCAGGAGAGATGCACCATGGGACGCATCAGCAGTGACTGATCTGCCCCAGAGCAAGTGCAGCCAAAGCTCTCCGTGCACTAAATACTGACTGTACTCCAGACAGGCCTCCAAGGGCACAGCTGGGCATACCCTGTAGTTATCTTACTTCCTGTAGTTATTTTAATTCCTGGCCCCTCTTTCCCTAAATCCAATTGTTAGCAAAGACTCCCCTCAACCTTTTTTTTTTTTTGAGAAGGGGGTCTTATTATGTTGCCCAGGCTGGTCTTGAATTGCTGGGCTCGAGCAGTCCTCCTGGTTCAGCCTCCTGAGTAGCTGAGATTACAGGTTCGAGGAGCCACCATG
|
CATCACTCAAAGTCCAGACAAGCTTACATCGAGACTGGCAGGGCCAGTAATGACTACTCAAAAGCCACAAAATCCTCTCTAAGAGCCATCCTAGGGGGCCTGTTTCAGGGAGGTGAGTTCAGGCTCTACCAGAAACTTCCTAGCCTGTCTCAATGTTTTTAAGTCACTCACTTGAAGAGGGAAGTCCTAAGGAAAGGAAGGATAGAGACCCAAAAGAAAAGCAGCAACATCAACTAAACATCTTCCTTTGCAGAAACTGGACCAGGAAAGTCTCGTGAGGAGCTGATCCCATTGCATCAAGCTCTAATTACCTGATGTAACAGGAAGCCGGGGGGGCGTCCAGTCTCTCAGCTTGTGGTTGATACACAAGGCGATAAGATCATCCCATGGGATCTCCATGACCGAGGGGCCTGCCCCATGGACTGGGGAGGGACTCTTGCTCTTCCACCTACAGTAGGTTCTGTGGAGCAGGTTCTCCACCTGGGACTGGAGGACAGGCTGTGTCTGGCGTGAGCTGGGGATCTGGGAGGCGTACTGGACAACCATGGAGCACACGGGGAGCCAGGGGGCTGGGGAGAAAGTGCCTCATTAGTTACAGGTTTGGCCAAAATACAGGTGAAAATGTACATGAAAACATTTTCTCAGGAGAAGGCAACTGTGAAGTTGAGAAGTCTGCTTTCTAAACACAGCAGAACCACAGTTGTTGAGGGGGAAGAGCAGCTTGCTCCCAGGGTCTAGGTGAGGGATGCAGACAGTCCCCCTTAACAGTGTTGCTAGCCAAGTTCTACCCAGAAGTTCTGACTGTACAGGCCTGTGGTTGTGCCTAGGAAATCTGTATTTTAACAAGCACCCAGATGAGTCTGGTATAAGCAGTCTTAGCTTATTTTGGGGAACCCCAACCTAACCAGAGCACCGAGGGCTTGTGCTGAGTGGTTTGCTTCCCTTTGGGTTCCTTCAATAATGAGCATGAGTTAGACCTACTACAGACCACACACCACAATTTAGAAGGGCGCCTGAGGCCCAAAGGGGAGTGTCTGTGCTAATGCCACAACTTCTGCCAGATAAGCAGCTCATTCCCTTCTGAGTGCATAGGAAGGAGCAGCCCCATGCCATACTGGGCTTGAGCCAGCCAGATGGCCTGTCGGATCTGTGTCAAAACAGCCCAAAGACCTCAGCCAGGAACAGGGGCACAGCCAGAGCCATAGAAGAAGGCCTCTTTGACAAAGAAAGAATGTTAAATCAGCACTGAGTGCCATGGCTGCGGCTTGGGGACAGGGCTACATGGTCCCCATGCTCTTTGCCCCTTGTCTGTTCTGAAAACAGGGACCCTGTGGGCAGGCAGGACAGGATCAGGGTTGGTGTTCCTCCCAGTACCACTTGTCACTTTTCTCCTGAAGCTGAGTGAACTCCCATGGACTGCCTTGCTGGTCAGGAAAGGCTAACAGCCCCCACTCCACAAAACCCAGCTTGTTCTGGCTCATGAACCCAAAGGACCAAAGGAAGGTGCAGGCGAGCACAGCATGGAGACACACGGAGGTGGACGTGCAGCCCTCACACTGGTGCCCAACACCTGCCAGACGGTTACTACAGTGAGAAGGAAGCCTGAGACTTGGCTGCAGCCACCCACCAGACCTCCCCAGGTCAAGCACGTACCCCCCAGGGGTGGAAGGTCCATCTGCGGAAGCTGGAACCCGAGCACAGCCTGCTTCAGCCAGGCCAGGTGCTCTGGGGCATTCCAGTGCAGGTGAGGAAGCAGCCGGCTGCCCCCTGCCTCAGCAAACTCAGTGACAGGCCAGGACAGGTCACACAGCTGTTCAGAGGACACCACAGAAGCCAGGAACTGCAGCACACTGTTAAACAGCTCAATGATGGCGCCAGGCTCCTGAGAAGCAAGACCGCCCAGACGCCTCTCTCTTCTGTCATGGAAAAAGCGGCCACTAAACTCATGGCCAATCCCGTCTTCGACGTACTGAATGAGAGTCTGGCAGCAGAGGTCAAGGGAATGGGGGCAGTGGGAAACCAGCCACTGCACTGCTTGCAAAACCTGAGAAGAAGAGACTTGGTTGAACAATTCACACTGTTTTTCAAAAACAGCTTTCTGAAAGGGCTTGATCCCCCAAGGTTGCCCACAGCAGGTAATACCAGAGTACTGGGCTCTCAACTGTGGTAGGAAGGGGAACAGAAGTGTCCTATGCAGTTGAGTTTAGCCTTCTAGGGCTCTGGAGACATGTCCAGTAGGGGCACTAAAGAGAGCCCCCAGATCCCACCTGGCCTGAGGAGGAGTGTGACCTGCATGGTTGCCCCATGGAAAGGCCCAGGCCCTCAGGAAACCAGCCCTGAACATCCCCTTCACCATGCACAGAAATGGAGTCTTCTCCTTTTTGGAAGGACTAACAGCTTCACTATGTGCCAAGGTGCCTTCACACCCTATGGTTATCTTACTTCCTATAGTTATTTTAATTCCTGGCACCTCTTTCTCTAAATTGTTAGCAAAGACTCCCCCTGCCCTATTTTTTTTGTTTTTGAGAAGGGGGTCTTGCTATGTTGGCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCTGCTTCAGCCTCCGAGTAGCAGAGACTACAGGTGCGAGGAGCCACCACGCCCAGCTTCAGACTTCCTTTTTAAAGGAAACATCAAATAACATTATTTCTTCATATATTCAGAGGACAATTACCCTAGAAAAATAACTTCTGTATCTGACCTTCAGATATAAGACATGTTCATATTTTAAATTCATAGAAACAAAAACACTAAAAAATTTTACATGAACAATTTAATTTGCAGATAGCAGGACTGTGGGCAAATTTTATCTTTTATTTTGATTTCTGCTTATGTTTTTAGAAAGTTATCTGTATAAAACATACAACTGCTGCCAGGCGCAGTGGCACACCACAGTAGTCCCATATACTTGGGAGACTGAAGTGGGAAGATTGCATGAGCCCTGTAGTTTGAGGTTGCAGGGAGCTATCATCATGCCACTATACTGGGTGACAATAAAACCCTGTCTCTTAAGAAAAAGACAATGCAAACGCTAATATACACTCAATTCAAGATACAGCAAAAGGGGAAAAAACAAAATATCTTGACAGACCATTAAAAATGATGAAACCTTACCTTAGTTGAACCTTGTAGATCATTAATGGTATCAGGGATCTCGGTAACAGTGTAATCTGAAATCAGCTTAGCTGAAACCAAGTCCTGTAGCATCAGACCTTTAAGACAGACATAGATGAAGGTCACTTGCATTCTGCTGTCAGCACACCTGCTAACATATCTCACTGTGCTGACCCCACCCAGTCCTGCAGTGGACAGTCACCACAGGGGTTGCTGTCTCAGTGATTCCTGACCCCAACACTACTGGACCATCCTCAGACCCAGGGCCTCCACCCATTTATTAAACAATGCTGCTTCATAAACGAGACTTCCTTCACAAACCATCTTCTACTTCCTTCTCAACGGCGTCCCCTCCTGGGCTAGGCACAAGAACCACCAGAGGAAGCGCAGGCTGGAAGGGCTTAGCCTGCAGGAGCTGCTTGAGCTGCAGCAAGGCCGACAGCCAGTACACGTCCTCCTCTGCCATGTCCTCACTCTTCATTTTGGGGGGAAGCAGCAGCATGAGCCCACTGGCTCCCAGGAGGTCCTTCTGTGTCTCCACAGCATCAATGGCACCATCACTGAGGGCGCCATGGGCCACCTGCAACAGCATCAAGATCATCAGGAGAGATGCACCATGGGACGCATCAGCAGTGACTGATCTGCCCCAGAGCAAGTGCAGCCAAAGCTCTCCGTGCACTAAATACTGACTGTACTCCAGACAGGCCTCCAAGGGCACAGCTGGGCATACCCTGTAGTTATCTTACTTCCTGTAGTTATTTTAATTCCTGGCCCCTCTTTCCCTAAATCCAATTGTTAGCAAAGACTCCCCTCAACCTTTTTTTTTTTTTGAGAAGGGGGTCTTATTATGTTGCCCAGGCTGGTCTTGAATTGCTGGGCTCGAGCAGTCCTCCTGGTTCAGCCTCCTGAGTAGCTGAGATTACAGGTTCGAGGAGCCACCATGNNNN
|
benign
| 321,230 |
The chromosome 21, position 46260896 genetic variant in gene MCM3AP (minichromosome maintenance complex component 3 associated protein): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Inborn_genetic_diseases', 'MCM3AP-related_disorder', 'Peripheral_neuropathy,_autosomal_recessive,_with_or_without_impaired_intellectual_development']
|
AATACAGAAACTAATAGCTCATATATTTTGAATTTGTTAAAAGACTCTTCCCCGTGTGTGTGGATTTTGCCTGTAGGAACACAGGACTCACCGCTGTAGATACTTGCAGAAGCACTGAAGCTCCTGGAGGGTCTCCTTTGCAGTCTGGAAGATTTCCTCCACGAGAAACAAGTCCACTAAGTGGGCACAGACATCCTCACAGCAACGGGCCACACGGACCCTCTGGTCTGTCTCTACTGCATTCCTAGAAACAGGGCAATCAGCATGGAAGACACTGCACTTGGGGCCCACAGACACTGAGGGCTTGCTTGAAAAGTGCAAGAGTCAGTCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAAGCGGGTGGATCATGAGGTCAAGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATGACGTGAAGCCGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAGTGCAAGAGTCGGCCAGGCACAGTGGCTTACACCTGTAATCCTAGCTCTTTGCGAGGCCAAAGCAGGCAAATCACTTCAGGTCAGGAGTTCGAAACCAGCTTGGCCATCATGGTAGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGCGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGCGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATGAAAAATTAGCCAGGCATATTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCTTGGGTAACAGAGTAAAACTCCATTTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGCGGTGCATGCCTGTAATTCCAGCTACTTGGGAGGCTGAGCTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAACCCAGATCACGCCACTGCACTCCAGTGTGGGCGACAGAGCAAGACTCCGTCTTTAAAAAAAAAAAGTGCAAGAGTCTGCATCCTCAGTATTAAAATGTAATTCTATCTTCATTGTAAAAGAAGCTTTAATACTTAAACTACAGACACCTAGAAAGACAGGGTAAAAAGAATTAAGTGGAACAGGGTGCCAAATTATAGGTCCATAGGGGCCCTCGTAACAGTTAAGAAATAAACCTTTATCTTAATAAAATAGTCAGAATTTTTAATTATTTTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTACAGTGGCCACCACAGGTGCAGTCATAGCACACTACCTGGAACTTCTGAGCTTAAGTGATCTTTGCACCTCAGTCTCTTGAGTTGCTGGGACTACAGGTGCCTGGCGTAGAATTTGTAAATTACCATGCAGACAACCACAAAATCTTCTCATCAGCAACATCTGACTTGTGCAATCAATTGGAAGTGTCTCAAATATATGATAAATGCCAGTGGCTAATAAGGATGGCTGACTATGATCATGTGGTGGCAGCCCTCATATAAAAGAGAATTTTTTATAATAAAATTCTATTAGCCAAGGGAGCACAGAGGACTGCATCAAATACATTTGGTCACAAAATCAAAGTAGCTTAGACAGGCAAGATCCATTTCCAATAGCCCATCCTCAGTGGTGCAAGACACAGCCTAGGGCAGAGCCAAAGCTCACTCTCCTGGCACAGCAAGACACCAGCGTTTCACTTACTTCAACTCCTGGGAGCAGGTTTCCCTCACAAACTCCATCATCACGCGTTCCATCAGCTCCACGGCCAGGCCCTGGCTCAGCTCACTTAACACCAGCTCTCTCTCTTGTTTCAACCTACAGGGAAGAGAAAAAATACACAAGGGTAATGTTTAAGAATAAAAATAAGTGCTGTTTGTTTTACTCCCTGGCCACGCAGACAGGGATTGAGGTGTGCTGCCTGAGTCGGTAGGCCACCCCTACTCCAGCTCCCCTGACACCACCTCCCTTCCCCTGCCTTTCCTGGCTGGGAAGGGCCACTGCTCACGGGTAGGTGTGGCCTGAGGAGCTCCATCCACCCCCTGGGCTGAAGCATAGGAGGGCATGAGTGGGTCAGCAGGGGTGGAATGGTAGCACAGTGGACAATAGCAGGAGCATCGTGGCTAGGGTCAGTTCTTGCCTGTGTCCACACTGAGCTCCTTATTCGGCTGCATGGACAAGACACACTTACCTTTCCTCTTCAGCCCGCTGCCTCTCCTGCTCCCTTCGCTCTCTTTCCTTAGACACTTCTTCAGCTGCAATGTGCCTCAAAATGCCCGTGGTTGCAGCTGTTAACAAATCCTCCATAGCAGCATTAGAAACACTAAACGGAGCAAAGGGGATAGCATTCAAAATCAGAGTCAAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGAAGATCAAGACCATTCTGGCCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGCGGCAGCACACGCCTGTAGCCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTCGGACCTGGGAGCGGGAGACTGCAGTGAGCCAAGATTGCGTCACTGTACTCCAGCCTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAAATATCAGAAAAAAGCCAAGTCATTGACAAGGGAAAAAAAACACACAGGTTGAGTGTCCCTAATCCAAAAATCTGAAATCCAAAATGCTCCAAAATCTCAAACTTTTTGAGCACAACATGTCATGCTTTTCAAAGGAAATGCTCATTGGAGCATTTTAGAATTCAGATTTTCAGATTTTTAGGTAAGAGATACTCAACTGGTACATATAATACAAATATTCCAAAATCCAAAAATATCTGTCATCTAAAACCCTTGTGGTTCCAAGCGTTTTGAAGAAGGGATATGCAACCTGTACTTGTTTGGCTGCCAGCAGAAAAATTAAGCCCACTGTTAGAAACACACCATCTACCAAAACTGACTCATGAAGAAACAGAAAAATGTGAGTAGACCTATAACTAGTAAGGAGACTTCCAAACAAAGAAAGGTATGAGACCAGAAGGTTTCACTGGTAAATTCTATTAAACACTAACGAAAAACTAACCACCAATCTTTTTCAAATCCTTTCAAAAAACTGAAGAGGAGGGAATATTTACTAACTCATTTTATGAGGCTAGCATTGCTCTAATACCAAAGACAGACCAAAGACACTATAGGAAAACTACAGACTGAGCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTCAGGAGGCTGAGGTGGGAGCACTGCTTGAGCCCAGGAGTTCAAGACTAACCTGGGCAACATAGAGAGACCCCATCTCTACAAAAAATTAAAAAATTAGCCGGGTATGGTAGCATGCGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAGCCTAGAAGATCAAGGCTGTGGTTAGCTGTGATTGTGCTTCTGCACTCGGGTCTAGGTGACAAAGTAAGACCCTGTCTCAAAAAAGAAAAAAAAAAGGAATAAAGAAATAAAAAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGGGGCGGAGCCTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTG
|
AATACAGAAACTAATAGCTCATATATTTTGAATTTGTTAAAAGACTCTTCCCCGTGTGTGTGGATTTTGCCTGTAGGAACACAGGACTCACCGCTGTAGATACTTGCAGAAGCACTGAAGCTCCTGGAGGGTCTCCTTTGCAGTCTGGAAGATTTCCTCCACGAGAAACAAGTCCACTAAGTGGGCACAGACATCCTCACAGCAACGGGCCACACGGACCCTCTGGTCTGTCTCTACTGCATTCCTAGAAACAGGGCAATCAGCATGGAAGACACTGCACTTGGGGCCCACAGACACTGAGGGCTTGCTTGAAAAGTGCAAGAGTCAGTCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAAGCGGGTGGATCATGAGGTCAAGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATGACGTGAAGCCGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAGTGCAAGAGTCGGCCAGGCACAGTGGCTTACACCTGTAATCCTAGCTCTTTGCGAGGCCAAAGCAGGCAAATCACTTCAGGTCAGGAGTTCGAAACCAGCTTGGCCATCATGGTAGAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGCGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGCGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATGAAAAATTAGCCAGGCATATTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCTTGGGTAACAGAGTAAAACTCCATTTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGCGGTGCATGCCTGTAATTCCAGCTACTTGGGAGGCTGAGCTAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAACCCAGATCACGCCACTGCACTCCAGTGTGGGCGACAGAGCAAGACTCCGTCTTTAAAAAAAAAAAGTGCAAGAGTCTGCATCCTCAGTATTAAAATGTAATTCTATCTTCATTGTAAAAGAAGCTTTAATACTTAAACTACAGACACCTAGAAAGACAGGGTAAAAAGAATTAAGTGGAACAGGGTGCCAAATTATAGGTCCATAGGGGCCCTCGTAACAGTTAAGAAATAAACCTTTATCTTAATAAAATAGTCAGAATTTTTAATTATTTTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTACAGTGGCCACCACAGGTGCAGTCATAGCACACTACCTGGAACTTCTGAGCTTAAGTGATCTTTGCACCTCAGTCTCTTGAGTTGCTGGGACTACAGGTGCCTGGCGTAGAATTTGTAAATTACCATGCAGACAACCACAAAATCTTCTCATCAGCAACATCTGACTTGTGCAATCAATTGGAAGTGTCTCAAATATATGATAAATGCCAGTGGCTAATAAGGATGGCTGACTATGATCATGTGGTGGCAGCCCTCATATAAAAGAGAATTTTTTATAATAAAATTCTATTAGCCAAGGGAGCACAGAGGACTGCATCAAATACATTTGGTCACAAAATCAAAGTAGCTTAGACAGGCAAGATCCATTTCCAATAGCCCATCCTCAGTGGTGCAAGACACAGCCTAGGGCAGAGCCAAAGCTCACTCTCCTGGCACAGCAAGACACCAGCGTTTCACTTACTTCAACTCCTGGGAGCAGGTTTCCCTCACAAACTCCATCATCACGCGTTCCATCAGCTCCACGGCCAGGCCCTGGCTCAGCTCACTTAACACCAGCTCTCTCTCGTTTCAACCTACAGGGAAGAGAAAAAATACACAAGGGTAATGTTTAAGAATAAAAATAAGTGCTGTTTGTTTTACTCCCTGGCCACGCAGACAGGGATTGAGGTGTGCTGCCTGAGTCGGTAGGCCACCCCTACTCCAGCTCCCCTGACACCACCTCCCTTCCCCTGCCTTTCCTGGCTGGGAAGGGCCACTGCTCACGGGTAGGTGTGGCCTGAGGAGCTCCATCCACCCCCTGGGCTGAAGCATAGGAGGGCATGAGTGGGTCAGCAGGGGTGGAATGGTAGCACAGTGGACAATAGCAGGAGCATCGTGGCTAGGGTCAGTTCTTGCCTGTGTCCACACTGAGCTCCTTATTCGGCTGCATGGACAAGACACACTTACCTTTCCTCTTCAGCCCGCTGCCTCTCCTGCTCCCTTCGCTCTCTTTCCTTAGACACTTCTTCAGCTGCAATGTGCCTCAAAATGCCCGTGGTTGCAGCTGTTAACAAATCCTCCATAGCAGCATTAGAAACACTAAACGGAGCAAAGGGGATAGCATTCAAAATCAGAGTCAAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGAAGATCAAGACCATTCTGGCCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGCGGCAGCACACGCCTGTAGCCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTCGGACCTGGGAGCGGGAGACTGCAGTGAGCCAAGATTGCGTCACTGTACTCCAGCCTGGGCGACACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAGAAAAATATCAGAAAAAAGCCAAGTCATTGACAAGGGAAAAAAAACACACAGGTTGAGTGTCCCTAATCCAAAAATCTGAAATCCAAAATGCTCCAAAATCTCAAACTTTTTGAGCACAACATGTCATGCTTTTCAAAGGAAATGCTCATTGGAGCATTTTAGAATTCAGATTTTCAGATTTTTAGGTAAGAGATACTCAACTGGTACATATAATACAAATATTCCAAAATCCAAAAATATCTGTCATCTAAAACCCTTGTGGTTCCAAGCGTTTTGAAGAAGGGATATGCAACCTGTACTTGTTTGGCTGCCAGCAGAAAAATTAAGCCCACTGTTAGAAACACACCATCTACCAAAACTGACTCATGAAGAAACAGAAAAATGTGAGTAGACCTATAACTAGTAAGGAGACTTCCAAACAAAGAAAGGTATGAGACCAGAAGGTTTCACTGGTAAATTCTATTAAACACTAACGAAAAACTAACCACCAATCTTTTTCAAATCCTTTCAAAAAACTGAAGAGGAGGGAATATTTACTAACTCATTTTATGAGGCTAGCATTGCTCTAATACCAAAGACAGACCAAAGACACTATAGGAAAACTACAGACTGAGCAGGCACAGTGGCTCATGCCTGTCATCCCAGCATTTCAGGAGGCTGAGGTGGGAGCACTGCTTGAGCCCAGGAGTTCAAGACTAACCTGGGCAACATAGAGAGACCCCATCTCTACAAAAAATTAAAAAATTAGCCGGGTATGGTAGCATGCGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGTGAGAGGATGGCTTGAGCCTAGAAGATCAAGGCTGTGGTTAGCTGTGATTGTGCTTCTGCACTCGGGTCTAGGTGACAAAGTAAGACCCTGTCTCAAAAAAGAAAAAAAAAAGGAATAAAGAAATAAAAAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAGGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGGGGGCGGAGCCTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGNN
|
pathogenic
| 321,258 |
Is chromosome 21, position 46265326, gene MCM3AP (minichromosome maintenance complex component 3 associated protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Inborn_genetic_diseases']
|
CAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACAATTTAACCTAGGAGGCAAAAACTTTATACGTTGAAAACTACAAAGCATTGTCGAAAGAAATTAAGAATGACCTAAATAAATGGAAAGACATCCCACATTCTCAGATTAGAAGATTTAATATTGTTAAGATGACAATACTGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGTACTTTAGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCGAGACCATCCCTGGACAACATGGCGAAAAGCATCTCCACAAAAAATAAAAAAATTAGCCAGGCTGGTGCCCACCTGTAATCTCAGCTACTCGGGAAGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTGGAGGTTACAGTGAGGCTGAGATGGAGCCACTGCACTCCAGCCTGAGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGACAGTACCACCCAGAACAATCTACAGATTCAACGCAATCCCTATCAAAATCCCAACAGCACTTTCTGCAGAAACAGAAAAACTCATCCTAAAATTCGCATGGTATCTCAGGAGACCCCAAATAGCAAAACCATCTTGAAAAAGAAGAATGTAGGGGAAAATCTTCCTGACACTGTATCTGGCAATAACTTATTGGATTATGACTCCAAAAACGCAGGCAACTTTATGAGAGGAAACTTCTGGAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCACCGGACAGTCTGCAGGCGTCTCGTGACAGAAGCACAACCCCTGACACGGGGTCGGCTAGGCTGTTGCAGGAAAGGTGTCCCCTAGCGAATGGAAAGGTGCCATCTGGAGAGGAAGGCGCCCTGCGGATGGCCACACAGCGCCCTGGCCTAGCCATCTCCAGTCTACGTCAAGCAGCCTCTGTTTCTGTGACCACTCTATGCTCCCCCTAAGCACTCCCTGATCCCCAGATGGGCTGGTGCCCAGTGCCTGCCCCGAAGCAGCCAGAGTGGCACAATCCAGTCTCACAACCATGGAGTCGACAGGCTCTACTCAATATCAAGGCACCTGTCGGGACCATGCCCACCCTGAGGCCACAACCATCAAGGGGCACATCCACCCCCAGGCCAGGCTGGTCAAGGGGCTCACCCACCCCCAGGCCATGCCCATCAGGGTGCACAGCCAGAGACCACACACACCAGAGGGGACACGACCACCCCGAGGCCACGCCTATCAGGGGGCACAGCCACCCCAGCCATGCCCATCAGGGGGCACACCCGCCAGGGGACACGCCCATCCCAGGTCACACCCATCAGTGGGGACACCCAACCCCAGGACATGCCCTTCAGGGGACACACCCACACTCAGTCCATGCATATTGGGGTCCCATCAGGGGGACATGCCCACTCCAGGCCACACCCAAGGGGACACACCCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACAGGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGACTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTCTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGCGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGATG
|
CAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACAATTTAACCTAGGAGGCAAAAACTTTATACGTTGAAAACTACAAAGCATTGTCGAAAGAAATTAAGAATGACCTAAATAAATGGAAAGACATCCCACATTCTCAGATTAGAAGATTTAATATTGTTAAGATGACAATACTGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGTACTTTAGGAGGCTGAGGCAGGTGGATCACTTGAGGCCAGGAGTTCGAGACCATCCCTGGACAACATGGCGAAAAGCATCTCCACAAAAAATAAAAAAATTAGCCAGGCTGGTGCCCACCTGTAATCTCAGCTACTCGGGAAGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTGGAGGTTACAGTGAGGCTGAGATGGAGCCACTGCACTCCAGCCTGAGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGACAGTACCACCCAGAACAATCTACAGATTCAACGCAATCCCTATCAAAATCCCAACAGCACTTTCTGCAGAAACAGAAAAACTCATCCTAAAATTCGCATGGTATCTCAGGAGACCCCAAATAGCAAAACCATCTTGAAAAAGAAGAATGTAGGGGAAAATCTTCCTGACACTGTATCTGGCAATAACTTATTGGATTATGACTCCAAAAACGCAGGCAACTTTATGAGAGGAAACTTCTGGAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCACCGGACAGTCTGCAGGCGTCTCGTGACAGAAGCACAACCCCTGACACGGGGTCGGCTAGGCTGTTGCAGGAAAGGTGTCCCCTAGCGAATGGAAAGGTGCCATCTGGAGAGGAAGGCGCCCTGCGGATGGCCACACAGCGCCCTGGCCTAGCCATCTCCAGTCTACGTCAAGCAGCCTCTGTTTCTGTGACCACTCTATGCTCCCCCTAAGCACTCCCTGATCCCCAGATGGGCTGGTGCCCAGTGCCTGCCCCGAAGCAGCCAGAGTGGCACAATCCAGTCTCACAACCATGGAGTCGACAGGCTCTACTCAATATCAAGGCACCTGTCGGGACCATGCCCACCCTGAGGCCACAACCATCAAGGGGCACATCCACCCCCAGGCCAGGCTGGTCAAGGGGCTCACCCACCCCCAGGCCATGCCCATCAGGGTGCACAGCCAGAGACCACACACACCAGAGGGGACACGACCACCCCGAGGCCACGCCTATCAGGGGGCACAGCCACCCCAGCCATGCCCATCAGGGGGCACACCCGCCAGGGGACACGCCCATCCCAGGTCACACCCATCAGTGGGGACACCCAACCCCAGGACATGCCCTTCAGGGGACACACCCACACTCAGTCCATGCATATTGGGGTCCCATCAGGGGGACATGCCCACTCCAGGCCACACCCAAGGGGACACACCCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACAGGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGACTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTCTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGCGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGAT
|
pathogenic
| 321,263 |
Variant on chromosome 21, at position 46266018, affecting MCM3AP (minichromosome maintenance complex component 3 associated protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Inborn_genetic_diseases']
|
GGAAAATCTTCCTGACACTGTATCTGGCAATAACTTATTGGATTATGACTCCAAAAACGCAGGCAACTTTATGAGAGGAAACTTCTGGAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCACCGGACAGTCTGCAGGCGTCTCGTGACAGAAGCACAACCCCTGACACGGGGTCGGCTAGGCTGTTGCAGGAAAGGTGTCCCCTAGCGAATGGAAAGGTGCCATCTGGAGAGGAAGGCGCCCTGCGGATGGCCACACAGCGCCCTGGCCTAGCCATCTCCAGTCTACGTCAAGCAGCCTCTGTTTCTGTGACCACTCTATGCTCCCCCTAAGCACTCCCTGATCCCCAGATGGGCTGGTGCCCAGTGCCTGCCCCGAAGCAGCCAGAGTGGCACAATCCAGTCTCACAACCATGGAGTCGACAGGCTCTACTCAATATCAAGGCACCTGTCGGGACCATGCCCACCCTGAGGCCACAACCATCAAGGGGCACATCCACCCCCAGGCCAGGCTGGTCAAGGGGCTCACCCACCCCCAGGCCATGCCCATCAGGGTGCACAGCCAGAGACCACACACACCAGAGGGGACACGACCACCCCGAGGCCACGCCTATCAGGGGGCACAGCCACCCCAGCCATGCCCATCAGGGGGCACACCCGCCAGGGGACACGCCCATCCCAGGTCACACCCATCAGTGGGGACACCCAACCCCAGGACATGCCCTTCAGGGGACACACCCACACTCAGTCCATGCATATTGGGGTCCCATCAGGGGGACATGCCCACTCCAGGCCACACCCAAGGGGACACACCCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACAGGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGACTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTCTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGCGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGATGGCTTGTGAAGGTTTTATTCATAAGAGAAATCATGAAACAAACTGTCCATCAACAAGACCAGGTGAAGTCAGCTGTGCAGCATCCACATGACAAAAGGCCAGGAAGGTGCTGCAGAGGACCCCGGAGACCATGGAATGCCAGCAGGAAACCAATCCCGTGGAATGACATATAATAGTTGGAGACAACTGTTCACGGCATTCTAACAAGAGCCTTAAAAAAAAAAAAAGAAGACAGAGACCAGGTGCAGTAGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATAGCTACATCCTATTCTCTATAAAAAAAAATTTGTTTTAATTAGTGGGGCTTGGTGGCATGCACCTGTGGTCCCAGCAACATGGGAGGCTAAAGTGGGAGGACTGCTTGAGCCCAAGAGGTTGAGGCTGCAGTAAGCCTTGATCACACCACTGCACTCCAGCCTAGGTGACAGAGTGAGAACCAGTGTCTTAAAAAAAAGACAATGGGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGGTCACTTGAAGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGC
|
GGAAAATCTTCCTGACACTGTATCTGGCAATAACTTATTGGATTATGACTCCAAAAACGCAGGCAACTTTATGAGAGGAAACTTCTGGAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCACCGGACAGTCTGCAGGCGTCTCGTGACAGAAGCACAACCCCTGACACGGGGTCGGCTAGGCTGTTGCAGGAAAGGTGTCCCCTAGCGAATGGAAAGGTGCCATCTGGAGAGGAAGGCGCCCTGCGGATGGCCACACAGCGCCCTGGCCTAGCCATCTCCAGTCTACGTCAAGCAGCCTCTGTTTCTGTGACCACTCTATGCTCCCCCTAAGCACTCCCTGATCCCCAGATGGGCTGGTGCCCAGTGCCTGCCCCGAAGCAGCCAGAGTGGCACAATCCAGTCTCACAACCATGGAGTCGACAGGCTCTACTCAATATCAAGGCACCTGTCGGGACCATGCCCACCCTGAGGCCACAACCATCAAGGGGCACATCCACCCCCAGGCCAGGCTGGTCAAGGGGCTCACCCACCCCCAGGCCATGCCCATCAGGGTGCACAGCCAGAGACCACACACACCAGAGGGGACACGACCACCCCGAGGCCACGCCTATCAGGGGGCACAGCCACCCCAGCCATGCCCATCAGGGGGCACACCCGCCAGGGGACACGCCCATCCCAGGTCACACCCATCAGTGGGGACACCCAACCCCAGGACATGCCCTTCAGGGGACACACCCACACTCAGTCCATGCATATTGGGGTCCCATCAGGGGGACATGCCCACTCCAGGCCACACCCAAGGGGACACACCCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCAGTGCCAGGACAGGAGGCAGAGGCACTGGTGAGGGCGCAGGGGCTGGTAGAGACTGTGGGAGACTGGACAGGGGTGCATCCGGCTCTACACCACACTCCTCTCCTCTCCCTCCGCCTGGAAGGAAACATACAGGACAAAACATAGCTGCAGACACAGGGTGCCTGGCACCACGGGGACCGAGGTCTGTGCAGGGACAGCCCCAGGCCACCCACAGTGACCCTGAGGACTGGCCTGCCCTCCAGGAGACCAGCTACGTGGGACAACATACGCTTTGCATGAAAAACAAGCCCCAGGATGTCAGGGAGCCAGGAGGAGGGCTTCAAAGCCCTCAGTCCACTCCCAGTGAGAACCATCTGAGCATGAGGAAGAGCCACACCCCTGGGCCCCAAGACAAGACAGGTGCTCAGGCTCCTGGGAGGCGTCCTGGCGAGAAAATGCAGATGCCCAGGCTCCTGGGAGGCGTTCTGGTGGGAAAATGCAGCTAGTCCCCTCACTACGACTGCAGCTTCACTCACCCACTGTGTCGGAGCCGGGTCTCTGGGTGCTGACGGGCAGCTCCGCGGCCAGGCTCTCCCCGATGTACTTGTTCTGGGAGTTGAAGCTGCACACGGGTATGACGAGGGACGGGGGGCAATGGCCCTCCGTTCACAATTTCCCCGACTGACACCGTCAGCTTCCTAGTAATAAACACCGACTTCCTGGTCTTGGATAATCCCTCTGGTTCCAGGAATGCAGACCGGTTCAGCTCCACACAGCTACCCAGACCACAAAAGACCCCCGAGGGGTGTCACCAGGGGAGAAGACAGCTTCGCCCTCAGTGCCCTGCCGAGTACTGCAAGCCCCTTGGGTGTCACCACAGCCATGTGTAAATAACAGAAAGCACAGGCGCCAGGTCCCACTGCCGCCCACCCTGGAGCCTCTGTAGGTCCCTAGAACCACTAAGCCCAGCGTGTTAACAGACGCACGCTGACTCACTCCTGCCTCCTTGCTGGCTCACCCAAAACCGTCTAATTTTCTGAGGACAGAACTGGAAGGAGGAGACAGAACTAGAAGGAGACAGAACTGGAAGGAGGAGACAGGCAGGAGGCAGGTGAGGAGTTAGAGGAGACAGGGTGGGGAACTAGGCACCGGGTGTTGAGTGTAAGCTGCCAGTTTCTGAGAGAGCGTCTGTGAGTCTCACCACTCTGACTGGTAAGTACCGGAGAAGACTCCGGCTGGCCTGCGGGTGCCTCCATCCCAGCCGTCAGAGGTTGTCCGTCATTGGCTGGCAAAGGCAGTCAAGGGAAAGAATAAAGAAGGCCCTAACTTTTATCTTTAGGTTTGTCAGCAAGTCATGAAAAGGACTGATTTTGGAGTCACAAAGAACTTGGTCTGAGCCCTCAATGTGCTGACAGCCAGGATGTGACCTTGGGAACACCCCCAGCCATTCTGAGTCTCGTGTGTTCACCTGCATGGCAGAGGGAATGCACCTTCTTCAAGTCAGGCAAGCAGCCAGCCCTTCACAGCCCTTCATCAGAATTAACAAGAAAAAAGGAGACAGGGGCCCCACAGTTCCATTCTCAGCTCTTACCCGTCGGAAACGGTGAGGCCGTGGCAGGTGAGGAAGTCGGTGGCCTCTTCACAGTCTCTGAACAGCAGCATGCGCACCACACCATCCAGGGGAAAGATGGTAGATCGCTGTGTGCTCACCGTGTACGCAAAGTTGAGCGCCCGGAGAGCATCCTTGCGGATCTGAGAGGAGGAGCGAAATCACTGCAGTCTCAGACGAAGGCCCAGTCAGACACATGCAGTCAGCCCATGACCACAGCCATGGCCAGCGTGGGGCACATGGGCTCCTCCTGGGCTGAGTCCACCAGAAGGCGCTTTGGCAACACGGAACCCAAGCTTAGAGATCATAGGCGGTCTGCTCAGGGGCAGTGCTCAGGAATGCGTGCCAAGCAAACACTCTCATAGAGAAGGATGGCTTGTGAAGGTTTTATTCATAAGAGAAATCATGAAACAAACTGTCCATCAACAAGACCAGGTGAAGTCAGCTGTGCAGCATCCACATGACAAAAGGCCAGGAAGGTGCTGCAGAGGACCCCGGAGACCATGGAATGCCAGCAGGAAACCAATCCCGTGGAATGACATATAATAGTTGGAGACAACTGTTCACGGCATTCTAACAAGAGCCTTAAAAAAAAAAAAAGAAGACAGAGACCAGGTGCAGTAGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGGGCAACATAGCTACATCCTATTCTCTATAAAAAAAAATTTGTTTTAATTAGTGGGGCTTGGTGGCATGCACCTGTGGTCCCAGCAACATGGGAGGCTAAAGTGGGAGGACTGCTTGAGCCCAAGAGGTTGAGGCTGCAGTAAGCCTTGATCACACCACTGCACTCCAGCCTAGGTGACAGAGTGAGAACCAGTGTCTTAAAAAAAAGACAATGGGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGGTCACTTGAAGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCNN
|
pathogenic
| 321,268 |
Evaluate this variant at chromosome 21, position 46334525, gene PCNT (pericentrin): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
TGACACACAAACATTAGAAGTGTCCTCTTAAGGAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTCAGGTGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTAAGGTTGCAGTGAGCTGGGATTGCACCACTGCACGCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAATTAATTAAATTTCTTTTTTAAAGTAGAATTCATGGCCGGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACAAGGTCAAGAGATTGAGACCATCCTGGTCAACATGGTGAAACCCCGATTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCTCAAAAAAGACAAAAAAGAAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGAGGCGGAGGTTGCAGTGAGCCGAGGTCATGCCACCAGCCTGGGCGACGGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAATTACAGGCTGGGCACGGTTACTCACACCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCCGGGAGGTTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCGAGTTCGTGCAACTGCATTGCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAGAATTCATTAAGAAGAGGGGCAGGAACATCATTAGGGAAATTACTTGCATTATAAAAATGTTTAGAGCTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCCATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGAACCCAGGAGGCGGAGATTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTTTAGAGCTTGGGAATTGTTAATGCGGAAGGTGCACGTTCTGAACAGGTGGAAGTGAGCTCTACTTGTTAAATGAAGTCAGCACAGGCCTGCAGATAGAGGAGCTGGGAAGGGCCTGAGGCTGCAGCCCTAGACCTTGCTTTAAATGCTTCTTTCTGGTCCTCCCCTTCTTAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATGTTCACAAAGGTATTCTTTAAGTTCTCTGTTAAGGTGTATTCTTTGTCAAAAGATTTCTTTATGTTGTAGAAATCCAAACCAGTGAGAGGACCTTCCATCTCTGCAGGGCCTCTCTTTAGAAGTGGAAACTGGAAGCATAGAGAGCTGGAGGCAGAGGCTCACCCTGTAGGCCCCACGTGCTGCCGCCTGCACGTTCTTAGTGTTGCCTGTGAATGGGAAGCCTCTCTTCATACCCTTCTCCCTGAGCTCAAATCTGCCTCCCTTGTGATCTTCCTTTTTTGTTTTTCCCATGGGACATTGAAGAGAAGCCACCCTTCATAAGTTTGAGGAATGTCATGAATTCCCTTTATTCTAGTTGCCCTTGTCGATTGACTCACCTGTCTGTTCAGCCTGTTTCTTAGGCCTGGTACCTCGTTTCTCACATCATCAGTTTGTGACTGGAAGTCCTGTGCCAGTTGAGAGCCTGGCAGGGCAGGGAGGCTGTGGTCAGTCTGCATGTCCCTGGTTTCTGCCACGTTCCTGGTGGGATGAATTCCATACGTGTTGAGTTGATTACCTTTATTTTATTGACATGTTTTTTGTTAGCATGTGGAGGAAAACATTAAGTTTGGAATTGACTACTTTTGAAGTGTTATGTTAAAAGCATATATTTTAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAATTTTAGACCAGCCTGGCCAATATGGTGAAACCCCTCTCTACTAAAAATACAAAATTAGCTGGGTGCCACTGCACTTCAGCCTGGGAGACAGACCGAGATTCCATCTCACAAAAAAAAAAGCCTCTATTTTAGCCATTTGATTCTAGCTAGACTCAGTTCACACTGCTTTAGGCAAGTTTGGTTGTTTTTTGGTTTTTGGGGTTTTTTTTTTTTTTTTAAATAGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGTGGTGCGATCTTGGCTTACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTATAAGCACCCACCACCATGCCTGGCTAATTATTGTATTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTGCTGACCTCAAGTGATCTGCTCGTCTCAGCCTCCTGAAGTGTTGGGATTACAGGCGTAAGCCACTGCACTTGGCCGGCAAATTGTTTGTTTTTTGAGATGGAGTTTTGCTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGGTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCATCATATTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACTATGCAGGCCAAGTTTAGTTTTTAATCTGCATTATTGCAGGAAAGATCTAACTCCTAGGTGAGGCCTGGAAGCACAGTCTCTGGTGGGTTCTATAAAACCCACTCTTCATTTATTTATTGACTTCTTGGGACCGGGTCTCATTCTGTCCCCTGGGCTGGAGTATGGTGGTGCCATCACAGCTTAGTGTAGCCTCAACATTTTGATTCTTAAGTTGTTGCAGCTCTGTCCGTGGGGAGCCCCTTCAGGTGGCTCCTGTGTCATGTGTTTGAAGCACATCCTGGCTTGTGACACTGCAAGTTGGTGCCG
|
TGACACACAAACATTAGAAGTGTCCTCTTAAGGAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTCAGGTGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTAAGGTTGCAGTGAGCTGGGATTGCACCACTGCACGCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAATTAATTAAATTTCTTTTTTAAAGTAGAATTCATGGCCGGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACAAGGTCAAGAGATTGAGACCATCCTGGTCAACATGGTGAAACCCCGATTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCTCAAAAAAGACAAAAAAGAAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGAGGCGGAGGTTGCAGTGAGCCGAGGTCATGCCACCAGCCTGGGCGACGGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAATTACAGGCTGGGCACGGTTACTCACACCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCCGGGAGGTTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCGAGTTCGTGCAACTGCATTGCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAGAATTCATTAAGAAGAGGGGCAGGAACATCATTAGGGAAATTACTTGCATTATAAAAATGTTTAGAGCTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCCATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGAACCCAGGAGGCGGAGATTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTTTAGAGCTTGGGAATTGTTAATGCGGAAGGTGCACGTTCTGAACAGGTGGAAGTGAGCTCTACTTGTTAAATGAAGTCAGCACAGGCCTGCAGATAGAGGAGCTGGGAAGGGCCTGAGGCTGCAGCCCTAGACCTTGCTTTAAATGCTTCTTTCTGGTCCTCCCCTTCTTAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATGTTCACAAAGGTATTCTTTAAGTTCTCTGTTAAGGTGTATTCTTTGTCAAAAGATTTCTTTATGTTGTAGAAATCCAAACCAGTGAGAGGACCTTCCATCTCTGCAGGGCCTCTCTTTAGAAGTGGAAACTGGAAGCATAGAGAGCTGGAGGCAGAGGCTCACCCTGTAGGCCCCACGTGCTGCCGCCTGCACGTTCTTAGTGTTGCCTGTGAATGGGAAGCCTCTCTTCATACCCTTCTCCCTGAGCTCAAATCTGCCTCCCTTGTGATCTTCCTTTTTTGTTTTTCCCATGGGACATTGAAGAGAAGCCACCCTTCATAAGTTTGAGGAATGTCATGAATTCCCTTTATTCTAGTTGCCCTTGTCGATTGACTCACCTGTCTGTTCAGCCTGTTTCTTAGGCCTGGTACCTCGTTTCTCACATCATCAGTTTGTGACTGGAAGTCCTGTGCCAGTTGAGAGCCTGGCAGGGCAGGGAGGCTGTGGTCAGTCTGCATGTCCCTGGTTTCTGCCACGTTCCTGGTGGGATGAATTCCATACGTGTTGAGTTGATTACCTTTATTTTATTGACATGTTTTTTGTTAGCATGTGGAGGAAAACATTAAGTTTGGAATTGACTACTTTTGAAGTGTTATGTTAAAAGCATATATTTTAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAATTTTAGACCAGCCTGGCCAATATGGTGAAACCCCTCTCTACTAAAAATACAAAATTAGCTGGGTGCCACTGCACTTCAGCCTGGGAGACAGACCGAGATTCCATCTCACAAAAAAAAAAGCCTCTATTTTAGCCATTTGATTCTAGCTAGACTCAGTTCACACTGCTTTAGGCAAGTTTGGTTGTTTTTTGGTTTTTGGGGTTTTTTTTTTTTTTTTAAATAGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGTGGTGCGATCTTGGCTTACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTATAAGCACCCACCACCATGCCTGGCTAATTATTGTATTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTGCTGACCTCAAGTGATCTGCTCGTCTCAGCCTCCTGAAGTGTTGGGATTACAGGCGTAAGCCACTGCACTTGGCCGGCAAATTGTTTGTTTTTTGAGATGGAGTTTTGCTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGGTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCATCATATTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACTATGCAGGCCAAGTTTAGTTTTTAATCTGCATTATTGCAGGAAAGATCTAACTCCTAGGTGAGGCCTGGAAGCACAGTCTCTGGTGGGTTCTATAAAACCCACTCTTCATTTATTTATTGACTTCTTGGGACCGGGTCTCATTCTGTCCCCTGGGCTGGAGTATGGTGGTGCCATCACAGCTTAGTGTAGCCTCAACATTTTGATTCTTAAGTTGTTGCAGCTCTGTCCGTGGGGAGCCCCTTCAGGTGGCTCCTGTGTCATGTGTTTGAAGCACATCCTGGCTTGTGACACTGCAAGTTGGTGCCGN
|
pathogenic
| 321,315 |
Does the chromosome 21 mutation at position 46334557 within gene PCNT (pericentrin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
GAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTCAGGTGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTAAGGTTGCAGTGAGCTGGGATTGCACCACTGCACGCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAATTAATTAAATTTCTTTTTTAAAGTAGAATTCATGGCCGGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACAAGGTCAAGAGATTGAGACCATCCTGGTCAACATGGTGAAACCCCGATTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCTCAAAAAAGACAAAAAAGAAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGAGGCGGAGGTTGCAGTGAGCCGAGGTCATGCCACCAGCCTGGGCGACGGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAATTACAGGCTGGGCACGGTTACTCACACCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCCGGGAGGTTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCGAGTTCGTGCAACTGCATTGCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAGAATTCATTAAGAAGAGGGGCAGGAACATCATTAGGGAAATTACTTGCATTATAAAAATGTTTAGAGCTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCCATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGAACCCAGGAGGCGGAGATTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTTTAGAGCTTGGGAATTGTTAATGCGGAAGGTGCACGTTCTGAACAGGTGGAAGTGAGCTCTACTTGTTAAATGAAGTCAGCACAGGCCTGCAGATAGAGGAGCTGGGAAGGGCCTGAGGCTGCAGCCCTAGACCTTGCTTTAAATGCTTCTTTCTGGTCCTCCCCTTCTTAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATGTTCACAAAGGTATTCTTTAAGTTCTCTGTTAAGGTGTATTCTTTGTCAAAAGATTTCTTTATGTTGTAGAAATCCAAACCAGTGAGAGGACCTTCCATCTCTGCAGGGCCTCTCTTTAGAAGTGGAAACTGGAAGCATAGAGAGCTGGAGGCAGAGGCTCACCCTGTAGGCCCCACGTGCTGCCGCCTGCACGTTCTTAGTGTTGCCTGTGAATGGGAAGCCTCTCTTCATACCCTTCTCCCTGAGCTCAAATCTGCCTCCCTTGTGATCTTCCTTTTTTGTTTTTCCCATGGGACATTGAAGAGAAGCCACCCTTCATAAGTTTGAGGAATGTCATGAATTCCCTTTATTCTAGTTGCCCTTGTCGATTGACTCACCTGTCTGTTCAGCCTGTTTCTTAGGCCTGGTACCTCGTTTCTCACATCATCAGTTTGTGACTGGAAGTCCTGTGCCAGTTGAGAGCCTGGCAGGGCAGGGAGGCTGTGGTCAGTCTGCATGTCCCTGGTTTCTGCCACGTTCCTGGTGGGATGAATTCCATACGTGTTGAGTTGATTACCTTTATTTTATTGACATGTTTTTTGTTAGCATGTGGAGGAAAACATTAAGTTTGGAATTGACTACTTTTGAAGTGTTATGTTAAAAGCATATATTTTAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAATTTTAGACCAGCCTGGCCAATATGGTGAAACCCCTCTCTACTAAAAATACAAAATTAGCTGGGTGCCACTGCACTTCAGCCTGGGAGACAGACCGAGATTCCATCTCACAAAAAAAAAAGCCTCTATTTTAGCCATTTGATTCTAGCTAGACTCAGTTCACACTGCTTTAGGCAAGTTTGGTTGTTTTTTGGTTTTTGGGGTTTTTTTTTTTTTTTTAAATAGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGTGGTGCGATCTTGGCTTACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTATAAGCACCCACCACCATGCCTGGCTAATTATTGTATTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTGCTGACCTCAAGTGATCTGCTCGTCTCAGCCTCCTGAAGTGTTGGGATTACAGGCGTAAGCCACTGCACTTGGCCGGCAAATTGTTTGTTTTTTGAGATGGAGTTTTGCTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGGTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCATCATATTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACTATGCAGGCCAAGTTTAGTTTTTAATCTGCATTATTGCAGGAAAGATCTAACTCCTAGGTGAGGCCTGGAAGCACAGTCTCTGGTGGGTTCTATAAAACCCACTCTTCATTTATTTATTGACTTCTTGGGACCGGGTCTCATTCTGTCCCCTGGGCTGGAGTATGGTGGTGCCATCACAGCTTAGTGTAGCCTCAACATTTTGATTCTTAAGTTGTTGCAGCTCTGTCCGTGGGGAGCCCCTTCAGGTGGCTCCTGTGTCATGTGTTTGAAGCACATCCTGGCTTGTGACACTGCAAGTTGGTGCCGCAGGCTCATCGTGTAGGCCCTGTCTCCGTTCT
|
GAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTCAGGTGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTAAGGTTGCAGTGAGCTGGGATTGCACCACTGCACGCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAATTAATTAAATTTCTTTTTTAAAGTAGAATTCATGGCCGGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACAAGGTCAAGAGATTGAGACCATCCTGGTCAACATGGTGAAACCCCGATTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCTCAAAAAAGACAAAAAAGAAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGAGGCGGAGGTTGCAGTGAGCCGAGGTCATGCCACCAGCCTGGGCGACGGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAATTACAGGCTGGGCACGGTTACTCACACCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCCGGGAGGTTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCGAGTTCGTGCAACTGCATTGCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAGAATTCATTAAGAAGAGGGGCAGGAACATCATTAGGGAAATTACTTGCATTATAAAAATGTTTAGAGCTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCCATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGAACCCAGGAGGCGGAGATTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTTTAGAGCTTGGGAATTGTTAATGCGGAAGGTGCACGTTCTGAACAGGTGGAAGTGAGCTCTACTTGTTAAATGAAGTCAGCACAGGCCTGCAGATAGAGGAGCTGGGAAGGGCCTGAGGCTGCAGCCCTAGACCTTGCTTTAAATGCTTCTTTCTGGTCCTCCCCTTCTTAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATGTTCACAAAGGTATTCTTTAAGTTCTCTGTTAAGGTGTATTCTTTGTCAAAAGATTTCTTTATGTTGTAGAAATCCAAACCAGTGAGAGGACCTTCCATCTCTGCAGGGCCTCTCTTTAGAAGTGGAAACTGGAAGCATAGAGAGCTGGAGGCAGAGGCTCACCCTGTAGGCCCCACGTGCTGCCGCCTGCACGTTCTTAGTGTTGCCTGTGAATGGGAAGCCTCTCTTCATACCCTTCTCCCTGAGCTCAAATCTGCCTCCCTTGTGATCTTCCTTTTTTGTTTTTCCCATGGGACATTGAAGAGAAGCCACCCTTCATAAGTTTGAGGAATGTCATGAATTCCCTTTATTCTAGTTGCCCTTGTCGATTGACTCACCTGTCTGTTCAGCCTGTTTCTTAGGCCTGGTACCTCGTTTCTCACATCATCAGTTTGTGACTGGAAGTCCTGTGCCAGTTGAGAGCCTGGCAGGGCAGGGAGGCTGTGGTCAGTCTGCATGTCCCTGGTTTCTGCCACGTTCCTGGTGGGATGAATTCCATACGTGTTGAGTTGATTACCTTTATTTTATTGACATGTTTTTTGTTAGCATGTGGAGGAAAACATTAAGTTTGGAATTGACTACTTTTGAAGTGTTATGTTAAAAGCATATATTTTAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAATTTTAGACCAGCCTGGCCAATATGGTGAAACCCCTCTCTACTAAAAATACAAAATTAGCTGGGTGCCACTGCACTTCAGCCTGGGAGACAGACCGAGATTCCATCTCACAAAAAAAAAAGCCTCTATTTTAGCCATTTGATTCTAGCTAGACTCAGTTCACACTGCTTTAGGCAAGTTTGGTTGTTTTTTGGTTTTTGGGGTTTTTTTTTTTTTTTTAAATAGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGTGGTGCGATCTTGGCTTACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTATAAGCACCCACCACCATGCCTGGCTAATTATTGTATTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTGCTGACCTCAAGTGATCTGCTCGTCTCAGCCTCCTGAAGTGTTGGGATTACAGGCGTAAGCCACTGCACTTGGCCGGCAAATTGTTTGTTTTTTGAGATGGAGTTTTGCTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGGTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCATCATATTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACTATGCAGGCCAAGTTTAGTTTTTAATCTGCATTATTGCAGGAAAGATCTAACTCCTAGGTGAGGCCTGGAAGCACAGTCTCTGGTGGGTTCTATAAAACCCACTCTTCATTTATTTATTGACTTCTTGGGACCGGGTCTCATTCTGTCCCCTGGGCTGGAGTATGGTGGTGCCATCACAGCTTAGTGTAGCCTCAACATTTTGATTCTTAAGTTGTTGCAGCTCTGTCCGTGGGGAGCCCCTTCAGGTGGCTCCTGTGTCATGTGTTTGAAGCACATCCTGGCTTGTGACACTGCAAGTT
|
benign
| 321,316 |
The mutation in gene PCNT (pericentrin) at chromosome 21, position 46334557—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTCAGGTGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTAAGGTTGCAGTGAGCTGGGATTGCACCACTGCACGCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAATTAATTAAATTTCTTTTTTAAAGTAGAATTCATGGCCGGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACAAGGTCAAGAGATTGAGACCATCCTGGTCAACATGGTGAAACCCCGATTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCTCAAAAAAGACAAAAAAGAAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGAGGCGGAGGTTGCAGTGAGCCGAGGTCATGCCACCAGCCTGGGCGACGGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAATTACAGGCTGGGCACGGTTACTCACACCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCCGGGAGGTTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCGAGTTCGTGCAACTGCATTGCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAGAATTCATTAAGAAGAGGGGCAGGAACATCATTAGGGAAATTACTTGCATTATAAAAATGTTTAGAGCTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCCATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGAACCCAGGAGGCGGAGATTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTTTAGAGCTTGGGAATTGTTAATGCGGAAGGTGCACGTTCTGAACAGGTGGAAGTGAGCTCTACTTGTTAAATGAAGTCAGCACAGGCCTGCAGATAGAGGAGCTGGGAAGGGCCTGAGGCTGCAGCCCTAGACCTTGCTTTAAATGCTTCTTTCTGGTCCTCCCCTTCTTAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATGTTCACAAAGGTATTCTTTAAGTTCTCTGTTAAGGTGTATTCTTTGTCAAAAGATTTCTTTATGTTGTAGAAATCCAAACCAGTGAGAGGACCTTCCATCTCTGCAGGGCCTCTCTTTAGAAGTGGAAACTGGAAGCATAGAGAGCTGGAGGCAGAGGCTCACCCTGTAGGCCCCACGTGCTGCCGCCTGCACGTTCTTAGTGTTGCCTGTGAATGGGAAGCCTCTCTTCATACCCTTCTCCCTGAGCTCAAATCTGCCTCCCTTGTGATCTTCCTTTTTTGTTTTTCCCATGGGACATTGAAGAGAAGCCACCCTTCATAAGTTTGAGGAATGTCATGAATTCCCTTTATTCTAGTTGCCCTTGTCGATTGACTCACCTGTCTGTTCAGCCTGTTTCTTAGGCCTGGTACCTCGTTTCTCACATCATCAGTTTGTGACTGGAAGTCCTGTGCCAGTTGAGAGCCTGGCAGGGCAGGGAGGCTGTGGTCAGTCTGCATGTCCCTGGTTTCTGCCACGTTCCTGGTGGGATGAATTCCATACGTGTTGAGTTGATTACCTTTATTTTATTGACATGTTTTTTGTTAGCATGTGGAGGAAAACATTAAGTTTGGAATTGACTACTTTTGAAGTGTTATGTTAAAAGCATATATTTTAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAATTTTAGACCAGCCTGGCCAATATGGTGAAACCCCTCTCTACTAAAAATACAAAATTAGCTGGGTGCCACTGCACTTCAGCCTGGGAGACAGACCGAGATTCCATCTCACAAAAAAAAAAGCCTCTATTTTAGCCATTTGATTCTAGCTAGACTCAGTTCACACTGCTTTAGGCAAGTTTGGTTGTTTTTTGGTTTTTGGGGTTTTTTTTTTTTTTTTAAATAGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGTGGTGCGATCTTGGCTTACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTATAAGCACCCACCACCATGCCTGGCTAATTATTGTATTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTGCTGACCTCAAGTGATCTGCTCGTCTCAGCCTCCTGAAGTGTTGGGATTACAGGCGTAAGCCACTGCACTTGGCCGGCAAATTGTTTGTTTTTTGAGATGGAGTTTTGCTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGGTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCATCATATTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACTATGCAGGCCAAGTTTAGTTTTTAATCTGCATTATTGCAGGAAAGATCTAACTCCTAGGTGAGGCCTGGAAGCACAGTCTCTGGTGGGTTCTATAAAACCCACTCTTCATTTATTTATTGACTTCTTGGGACCGGGTCTCATTCTGTCCCCTGGGCTGGAGTATGGTGGTGCCATCACAGCTTAGTGTAGCCTCAACATTTTGATTCTTAAGTTGTTGCAGCTCTGTCCGTGGGGAGCCCCTTCAGGTGGCTCCTGTGTCATGTGTTTGAAGCACATCCTGGCTTGTGACACTGCAAGTTGGTGCCGCAGGCTCATCGTGTAGGCCCTGTCTCCGTTCT
|
GAAGTGGATGGTCCAGGTTCCTTTGAAGTGTGATCATTCATGTGAGCGGGCAGCTGATTGAGACTACTGTGTCCCCTTTTCGTCCCTCACTTCCTCTTGATTCTGAGAAGATTGATCTAGGGTATTGTCAAATGAAGACTTGTCTGAGATTTTATTTTCACGTCAGTTTTGCCATCATCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTCAGGTGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTAAGGTTGCAGTGAGCTGGGATTGCACCACTGCACGCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAATTAATTAAATTTCTTTTTTAAAGTAGAATTCATGGCCGGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACAAGGTCAAGAGATTGAGACCATCCTGGTCAACATGGTGAAACCCCGATTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCTCAAAAAAGACAAAAAAGAAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGAGGCGGAGGTTGCAGTGAGCCGAGGTCATGCCACCAGCCTGGGCGACGGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAATTACAGGCTGGGCACGGTTACTCACACCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCCGGGAGGTTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCGAGTTCGTGCAACTGCATTGCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAGAATTCATTAAGAAGAGGGGCAGGAACATCATTAGGGAAATTACTTGCATTATAAAAATGTTTAGAGCTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCCATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGAACCCAGGAGGCGGAGATTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTTTAGAGCTTGGGAATTGTTAATGCGGAAGGTGCACGTTCTGAACAGGTGGAAGTGAGCTCTACTTGTTAAATGAAGTCAGCACAGGCCTGCAGATAGAGGAGCTGGGAAGGGCCTGAGGCTGCAGCCCTAGACCTTGCTTTAAATGCTTCTTTCTGGTCCTCCCCTTCTTAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATGTTCACAAAGGTATTCTTTAAGTTCTCTGTTAAGGTGTATTCTTTGTCAAAAGATTTCTTTATGTTGTAGAAATCCAAACCAGTGAGAGGACCTTCCATCTCTGCAGGGCCTCTCTTTAGAAGTGGAAACTGGAAGCATAGAGAGCTGGAGGCAGAGGCTCACCCTGTAGGCCCCACGTGCTGCCGCCTGCACGTTCTTAGTGTTGCCTGTGAATGGGAAGCCTCTCTTCATACCCTTCTCCCTGAGCTCAAATCTGCCTCCCTTGTGATCTTCCTTTTTTGTTTTTCCCATGGGACATTGAAGAGAAGCCACCCTTCATAAGTTTGAGGAATGTCATGAATTCCCTTTATTCTAGTTGCCCTTGTCGATTGACTCACCTGTCTGTTCAGCCTGTTTCTTAGGCCTGGTACCTCGTTTCTCACATCATCAGTTTGTGACTGGAAGTCCTGTGCCAGTTGAGAGCCTGGCAGGGCAGGGAGGCTGTGGTCAGTCTGCATGTCCCTGGTTTCTGCCACGTTCCTGGTGGGATGAATTCCATACGTGTTGAGTTGATTACCTTTATTTTATTGACATGTTTTTTGTTAGCATGTGGAGGAAAACATTAAGTTTGGAATTGACTACTTTTGAAGTGTTATGTTAAAAGCATATATTTTAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAATTTTAGACCAGCCTGGCCAATATGGTGAAACCCCTCTCTACTAAAAATACAAAATTAGCTGGGTGCCACTGCACTTCAGCCTGGGAGACAGACCGAGATTCCATCTCACAAAAAAAAAAGCCTCTATTTTAGCCATTTGATTCTAGCTAGACTCAGTTCACACTGCTTTAGGCAAGTTTGGTTGTTTTTTGGTTTTTGGGGTTTTTTTTTTTTTTTTAAATAGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGTGGTGCGATCTTGGCTTACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTATAAGCACCCACCACCATGCCTGGCTAATTATTGTATTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTGCTGACCTCAAGTGATCTGCTCGTCTCAGCCTCCTGAAGTGTTGGGATTACAGGCGTAAGCCACTGCACTTGGCCGGCAAATTGTTTGTTTTTTGAGATGGAGTTTTGCTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGGTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCATCATATTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACTATGCAGGCCAAGTTTAGTTTTTAATCTGCATTATTGCAGGAAAGATCTAACTCCTAGGTGAGGCCTGGAAGCACAGTCTCTGGTGGGTTCTATAAAACCCACTCTTCATTTATTTATTGACTTCTTGGGACCGGGTCTCATTCTGTCCCCTGGGCTGGAGTATGGTGGTGCCATCACAGCTTAGTGTAGCCTCAACATTTTGATTCTTAAGTTGTTGCAGCTCTGTCCGTGGGGAGCCCCTTCAGGTGGCTCCTGTGTCATGTGTTTGAAGCACATCCTGGCTTGTGACACTGCAAGTTGGTGCCGCAGGCTCATCGTGTAGGCCCTGTCTCCGTTCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 321,317 |
Determine if the mutation at chromosome 21, position 46334734 in gene PCNT (pericentrin) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
TCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTCAGGTGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTAAGGTTGCAGTGAGCTGGGATTGCACCACTGCACGCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAATTAATTAAATTTCTTTTTTAAAGTAGAATTCATGGCCGGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACAAGGTCAAGAGATTGAGACCATCCTGGTCAACATGGTGAAACCCCGATTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCTCAAAAAAGACAAAAAAGAAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGAGGCGGAGGTTGCAGTGAGCCGAGGTCATGCCACCAGCCTGGGCGACGGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAATTACAGGCTGGGCACGGTTACTCACACCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCCGGGAGGTTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCGAGTTCGTGCAACTGCATTGCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAGAATTCATTAAGAAGAGGGGCAGGAACATCATTAGGGAAATTACTTGCATTATAAAAATGTTTAGAGCTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCCATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGAACCCAGGAGGCGGAGATTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTTTAGAGCTTGGGAATTGTTAATGCGGAAGGTGCACGTTCTGAACAGGTGGAAGTGAGCTCTACTTGTTAAATGAAGTCAGCACAGGCCTGCAGATAGAGGAGCTGGGAAGGGCCTGAGGCTGCAGCCCTAGACCTTGCTTTAAATGCTTCTTTCTGGTCCTCCCCTTCTTAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATGTTCACAAAGGTATTCTTTAAGTTCTCTGTTAAGGTGTATTCTTTGTCAAAAGATTTCTTTATGTTGTAGAAATCCAAACCAGTGAGAGGACCTTCCATCTCTGCAGGGCCTCTCTTTAGAAGTGGAAACTGGAAGCATAGAGAGCTGGAGGCAGAGGCTCACCCTGTAGGCCCCACGTGCTGCCGCCTGCACGTTCTTAGTGTTGCCTGTGAATGGGAAGCCTCTCTTCATACCCTTCTCCCTGAGCTCAAATCTGCCTCCCTTGTGATCTTCCTTTTTTGTTTTTCCCATGGGACATTGAAGAGAAGCCACCCTTCATAAGTTTGAGGAATGTCATGAATTCCCTTTATTCTAGTTGCCCTTGTCGATTGACTCACCTGTCTGTTCAGCCTGTTTCTTAGGCCTGGTACCTCGTTTCTCACATCATCAGTTTGTGACTGGAAGTCCTGTGCCAGTTGAGAGCCTGGCAGGGCAGGGAGGCTGTGGTCAGTCTGCATGTCCCTGGTTTCTGCCACGTTCCTGGTGGGATGAATTCCATACGTGTTGAGTTGATTACCTTTATTTTATTGACATGTTTTTTGTTAGCATGTGGAGGAAAACATTAAGTTTGGAATTGACTACTTTTGAAGTGTTATGTTAAAAGCATATATTTTAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAATTTTAGACCAGCCTGGCCAATATGGTGAAACCCCTCTCTACTAAAAATACAAAATTAGCTGGGTGCCACTGCACTTCAGCCTGGGAGACAGACCGAGATTCCATCTCACAAAAAAAAAAGCCTCTATTTTAGCCATTTGATTCTAGCTAGACTCAGTTCACACTGCTTTAGGCAAGTTTGGTTGTTTTTTGGTTTTTGGGGTTTTTTTTTTTTTTTTAAATAGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGTGGTGCGATCTTGGCTTACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTATAAGCACCCACCACCATGCCTGGCTAATTATTGTATTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTGCTGACCTCAAGTGATCTGCTCGTCTCAGCCTCCTGAAGTGTTGGGATTACAGGCGTAAGCCACTGCACTTGGCCGGCAAATTGTTTGTTTTTTGAGATGGAGTTTTGCTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGGTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCATCATATTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACTATGCAGGCCAAGTTTAGTTTTTAATCTGCATTATTGCAGGAAAGATCTAACTCCTAGGTGAGGCCTGGAAGCACAGTCTCTGGTGGGTTCTATAAAACCCACTCTTCATTTATTTATTGACTTCTTGGGACCGGGTCTCATTCTGTCCCCTGGGCTGGAGTATGGTGGTGCCATCACAGCTTAGTGTAGCCTCAACATTTTGATTCTTAAGTTGTTGCAGCTCTGTCCGTGGGGAGCCCCTTCAGGTGGCTCCTGTGTCATGTGTTTGAAGCACATCCTGGCTTGTGACACTGCAAGTTGGTGCCGCAGGCTCATCGTGTAGGCCCTGTCTCCGTTCTGAGTCCGCTGTTTCTCCAAGGAGTCTTGGTGCCTTTTACTAGATTATGGTGTTGAGACCAAGACCTGGGCTCTAGGTGTGCTCACTCCTGCTGGGATGTTGCTGCTGCTTCTGGGCTCTCTCCGTGGACAGAGTGAGGAAGGGTGTGCCTGGGAGCTAGTCTGTGTGTACACTCATA
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TCATTGGCCATGGGTGCTCTCTCTCTGCATTCATCTTGTGACTCATCTAATGATCCCGAAAAGTCGACACTGTCATGTTTCTTTGCTATTTTGGGAAGAAATTGAAATGTTCTTAGTGAATCATCTTGTTAAAGCAAGCTAATCTGGGCACTGTGGCTCATGCCTGTATTGCCAGCATTTTGGGATGCTGAGGTGGGAGGATTGCTTGAGCCCAGGATTTTGAGGCCAGCTTTGGAACATAATGAACAGAGACCCTGTCTCTACAAAAAAATAAAAAATAAGCTGGGCACAGTGGCGCATGCCAGTAGTTCCAGCTACTCAGGTGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGGTTAAGGTTGCAGTGAGCTGGGATTGCACCACTGCACGCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAATTAATTAAATTTCTTTTTTAAAGTAGAATTCATGGCCGGGCGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTTGGGCAGATCACAAGGTCAAGAGATTGAGACCATCCTGGTCAACATGGTGAAACCCCGATTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCGTCTCAAAAAAGACAAAAAAGAAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGAGGCGGAGGTTGCAGTGAGCCGAGGTCATGCCACCAGCCTGGGCGACGGAGTGAAACTTTGTCTCAAAAAAAAAAAAAAATTACAGGCTGGGCACGGTTACTCACACCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCCGGGAGGTTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCGAGTTCGTGCAACTGCATTGCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAGAATTCATTAAGAAGAGGGGCAGGAACATCATTAGGGAAATTACTTGCATTATAAAAATGTTTAGAGCTGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCACCCATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGAACCCAGGAGGCGGAGATTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATGTTTAGAGCTTGGGAATTGTTAATGCGGAAGGTGCACGTTCTGAACAGGTGGAAGTGAGCTCTACTTGTTAAATGAAGTCAGCACAGGCCTGCAGATAGAGGAGCTGGGAAGGGCCTGAGGCTGCAGCCCTAGACCTTGCTTTAAATGCTTCTTTCTGGTCCTCCCCTTCTTAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACACCCAGCAGAACAGCGTGGGATGTTCACAAAGGTATTCTTTAAGTTCTCTGTTAAGGTGTATTCTTTGTCAAAAGATTTCTTTATGTTGTAGAAATCCAAACCAGTGAGAGGACCTTCCATCTCTGCAGGGCCTCTCTTTAGAAGTGGAAACTGGAAGCATAGAGAGCTGGAGGCAGAGGCTCACCCTGTAGGCCCCACGTGCTGCCGCCTGCACGTTCTTAGTGTTGCCTGTGAATGGGAAGCCTCTCTTCATACCCTTCTCCCTGAGCTCAAATCTGCCTCCCTTGTGATCTTCCTTTTTTGTTTTTCCCATGGGACATTGAAGAGAAGCCACCCTTCATAAGTTTGAGGAATGTCATGAATTCCCTTTATTCTAGTTGCCCTTGTCGATTGACTCACCTGTCTGTTCAGCCTGTTTCTTAGGCCTGGTACCTCGTTTCTCACATCATCAGTTTGTGACTGGAAGTCCTGTGCCAGTTGAGAGCCTGGCAGGGCAGGGAGGCTGTGGTCAGTCTGCATGTCCCTGGTTTCTGCCACGTTCCTGGTGGGATGAATTCCATACGTGTTGAGTTGATTACCTTTATTTTATTGACATGTTTTTTGTTAGCATGTGGAGGAAAACATTAAGTTTGGAATTGACTACTTTTGAAGTGTTATGTTAAAAGCATATATTTTAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAATTTTAGACCAGCCTGGCCAATATGGTGAAACCCCTCTCTACTAAAAATACAAAATTAGCTGGGTGCCACTGCACTTCAGCCTGGGAGACAGACCGAGATTCCATCTCACAAAAAAAAAAGCCTCTATTTTAGCCATTTGATTCTAGCTAGACTCAGTTCACACTGCTTTAGGCAAGTTTGGTTGTTTTTTGGTTTTTGGGGTTTTTTTTTTTTTTTTAAATAGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGTGGTGCGATCTTGGCTTACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTATAAGCACCCACCACCATGCCTGGCTAATTATTGTATTTTTAGTAGAGACAGGGTTTCCTCATGTTGGTCAGGCTGGTGCTGACCTCAAGTGATCTGCTCGTCTCAGCCTCCTGAAGTGTTGGGATTACAGGCGTAAGCCACTGCACTTGGCCGGCAAATTGTTTGTTTTTTGAGATGGAGTTTTGCTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGGTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGAGCATGCCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGAAGGGGTTTCATCATATTGGTCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACTATGCAGGCCAAGTTTAGTTTTTAATCTGCATTATTGCAGGAAAGATCTAACTCCTAGGTGAGGCCTGGAAGCACAGTCTCTGGTGGGTTCTATAAAACCCACTCTTCATTTATTTATTGACTTCTTGGGACCGGGTCTCATTCTGTCCCCTGGGCTGGAGTATGGTGGTGCCATCACAGCTTAGTGTAGCCTCAACATTTTGATTCTTAAGTTGTTGCAGCTCTGTCCGTGGGGAGCCCCTTCAGGTGGCTCCTGTGTCATGTGTTTGAAGCACATCCTGGCTTGTGACACTGCAAGTTGGTGCCGCAGGCTCATCGTGTAGGCCCTGTCTCCGTTCTGAGTCCGCTGTTTCTCCAAGGAGTCTTGGTGCCTTTTACTAGATTATGGTGTTGAGACCAAGACCTGGGCTCTAGGTGTGCTCACTCCTGCTGGGATGTTGCTGCTGCTTCTGGGCTCTCTCCGTGGACAGAGTGAGGAAGGGTGTGCCTGGGAGCTAGTCTGTGTGTACACTCATAN
|
pathogenic
| 321,322 |
The mutation in gene PCNT (pericentrin) at chromosome 21, position 46363456—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
AAGAATACACATTCTTAACCTTGTCTTTTATCAGTACAGTCTACTAAGAGTCACCATGATGCTGCGTTGTGTAAACTGTGACCTCTAACTGCACAGGTGCTTTTGTCACCTCCCCTTCGTCTTCTGTGCTGCAGTTTTCATAGACTAGACATCACATCCGCCTCCTGCAGTGTCAGGAGATTTGCTTTGGAAAACATGTGTTTGAAAGAAATTAAGAGGAAAAATGGCCTTATACTTGCCATTTCTGGTGCTCTTCATTTCTTCTTGAAGATCTGAGTGTTTGGCGTCATTCCCTTCAGCGTGAAGGATCTCCTTCAGCATCTCTTGCTGTGCTGCACACATTTTCTCCGTTTTTTGAAGTCTTTATTTTACCTTGATTCTTGAGGAGTATTTTTGTGGCATTAAAAAGTCTAAGGTGACAGGTTTCTTGTTCAGGATTTAAAGATGTTTAAAATCCTTCTCTGCAGATTTTATGATCTGTTTTGTCTTGGTGTTGGTTTCCATTGATTGTGTTTTCTCTTCAGCAGGGGTCACGTTTTCCTGCTTATTTATGGGTCAGCTGGGTTCAGGTTGCATCCTGGACACTGTGAGTGATAGATTTGGAGACTTTGGGTTCTGTCCTGCTCCTCTGGAGAGTGTTGGTTTTCTGTTGCAGCAGGCAGTTCACTCGGGTGACTTCAGACTGCATGCTCCCCTGCGTCTGTGCTGGGCTGCGGCATGGTGTTAATTCAGTTCTTGTAGCTTTAGCCGGCTTGCTTGCTTTTGGAGTCTGCCCCTCGTATGTACAGATCGGGGTCAGCCTGAGACGTGGGCGGGTTCCTTCCCAGGCGTTGCAGCTCTCTTTCCTCCCTCACTCTCCAGTTCCTCTGGCTCAGTGAGGGATTTGGGATTTCTGTGTGTGGGGCATGGACAGATACTACTCTTAGTGAAAAGCTGGAAAAAGAGAATGGCTCAGTGCTGTTTCTTCCTTCTGAATGTCCAGCCCTCTGCAGGGTCTGTCTGCTTGTGGATCTCTCCACAGCCTTCAGGTTTTTTTGTACGTTCTGTTCAGTTCATAGTGGTTGTCTCTGGAGGGCTGGTCTGGCGAGGTGCACAGGCATCACCAGAAGTAGCACCCTAAACTTTAATAACTTAATTTTTAAATAAGGAGTTGAGGTCAATCTTACGTGCCTTTTTTTGGGTTTTTTGTTTGTTTCTTTTTGATGAGTTCAGTAGTTTATTGACCTACTTTTTTCTCTTTGAAAGTCAGGAAGTCAGGCATGGTGGCTCACACCTGTAACAATCCCAGCACTTTGGGAGGCTGAGGCTGGCGGATTGCTTGAGCTCAGGAGTTCAAGATCAGCCTGGGCAACATGCAGAACCCTGTCTCTATAAAGGATTGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATTGTGCCCCTGCACTCCAGCCTGGGCGACAGACCCTGTCTCAAAAAAAAAAAAAAGATTAGGATATTTGCCCTCTGCATTCTCCTTCATCCCCCTCTGCACAGGATCCCTTTACAGTGTGCCTTGCAGTTCATCCACCCCTTGCTCAAGGTCTTTCATTGTCCTGGCGTTGACCTTGTACAGATCGGGAGCATCGCACCATTGGCTGCTCTTGCCTCCTGGGCATCCGATCATGCTTGCTGCAGTGGCCCAGCGCTATCTGTGGGGCTGGCGTTCCCCTAACAGAGGCCTGCGGCCGATCTGAGTCCTGCCACTGGTCTTGGTCTGAACAAAGAAGCCTCCGGCTGCTGCCTTTGCTCGGCTGATGTGTGCTGCCTTCGGTTGTTGGTTGCTGTCAAGGCCACGGGCTCCAGAGATAAAGAACAGTCGGTTCTCGGTGCCAGGACGTAGGAGGCATTTTATTTAGTTTTAGACTTGTCCACTTTAGGTTTCTTCCATTGTCATCAACATGAGAATCATTCCTGTTGCTGTGTGCAGCGTAATGGGTGTGTGTGTGGTGAAAATTCCCTGTCTTCAGAGGTGGGTTTGGGTTGTCTCTTCTAATAATCTCTTCCATTAGCGTCTTTCCTCCTAAATGAAATTATGTTGTCTGTAGGTAAAACACAATCTAATTGAAGACCACCAGAAGGAACTAAATAATGCTAAGCAAAAGACTGAGCTGATGAAACAGGAATTCCAAAGAAAAGAAACGGACTGGAAAGTTATGAAGGAGGAGCTACAGCGGGAAGCTGAGGAGAAGTTAACATTGATGCTACTTGAACTGAGAGAAAAGGCTGAATCCGAGAAACAGACCATCATAAACAAGTTTGAGCTTCGAGAAGCTGAAATGAGGCAGCTTCAGGACCAACAGGCAGCCCAGATCCTGGATCTGGAGAGGTCCTTGACGGAGCAGCAGGGCCGCCTGCAGCAGCTGGAACAGGACCTCACTTCAGACGACGCCCTGCATTGCAGCCAGTGTGGGCGGGAGCCGCCCACAGCCCAGGACGGGGAGCTTGCTGCGCTCCACGTGAAGGAAGACTGCGCCCTGCAGCTGATGCTGGCCCGGAGCAGGTGGGTTTGCAGTGACGCCATCTGCAGTCCCTGTGAGGCCAGACACCTTGGAGGGTAGAAGGTGGGCAGGCTCCTGGGAGGAGGCGCTGTGGGCTCCACTGGGCGAAAAGGTCTGGAGGGAGCTGGAACAAGGTGTGGCGCTCTAGGTTTTCAGCCTAATTGCAGTGGGACAGCTTTGTGCTCGGACGGGCAGGCTGGCAGTTGCCATCCTGAAGCCCCCTGGCCGCAGTGGGACAGCTTTGTGCTCGGACAGGCAGGCTAGCAGTCGCCGTCCCGGAGCCCCCTGGCCGCAGTGGGACAGCTTTGTGCTCGGACGGGCAGGCTGGCAGTTGCTGTCCCGAAGCCCCCAGGCTGCAATGGGGACAGCTTTGTGCTTGGATGGGCAGGCTGGCAGCCGCCACCCCGAAGCCCCCCGGCCACAGTGGGACAGCTTTGTGTTTGGACGGGCAGGCTGGCAGCTGCCGCCCCAAAGCCCCCCAAGTCTGCACTCCCTGGGTGGGTGTCAGGGGCGGGGATCAGTCATTGTCTCTGTTGTTCTTCGTGTGTTTTAAGATTTGAACAGCAGAAGCTAAACCTCTTTTATAGGTGTCATAAGGACATGGAGTTTATCCACTAAGCGTTTTTGTGTTTTTTTTAACTTAAACAGGTGATTTTTAAAAATAAGCATGTTTTTCTGAAACATACACACTCTTCTTTGAAGTTTTCAAGAGGTTTAGAAAGTGATTGGGTTCTTTGCCTGTTGGTGCTGACCCTTTTTGCGAGCCTCAGTCCCAGGGCTGTGCCGTTCTTTCTCATCTGTCTGCCCCACCCAGCCCTTCCCCAGCAACCAGGGCCGCACAGGGCCCCGCTCAGGGATTGGAGAAACTCACGTTCAGGTCGCTGGGGCTGCATGAACACGAGCAGGACGCTCTTCTCACCAGGCTACGACATGCAGTTCGTGGTAGAGCTGAACCAAGGAGGCCCTCAAGAGAGGCTTCCAGGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGT
|
AAGAATACACATTCTTAACCTTGTCTTTTATCAGTACAGTCTACTAAGAGTCACCATGATGCTGCGTTGTGTAAACTGTGACCTCTAACTGCACAGGTGCTTTTGTCACCTCCCCTTCGTCTTCTGTGCTGCAGTTTTCATAGACTAGACATCACATCCGCCTCCTGCAGTGTCAGGAGATTTGCTTTGGAAAACATGTGTTTGAAAGAAATTAAGAGGAAAAATGGCCTTATACTTGCCATTTCTGGTGCTCTTCATTTCTTCTTGAAGATCTGAGTGTTTGGCGTCATTCCCTTCAGCGTGAAGGATCTCCTTCAGCATCTCTTGCTGTGCTGCACACATTTTCTCCGTTTTTTGAAGTCTTTATTTTACCTTGATTCTTGAGGAGTATTTTTGTGGCATTAAAAAGTCTAAGGTGACAGGTTTCTTGTTCAGGATTTAAAGATGTTTAAAATCCTTCTCTGCAGATTTTATGATCTGTTTTGTCTTGGTGTTGGTTTCCATTGATTGTGTTTTCTCTTCAGCAGGGGTCACGTTTTCCTGCTTATTTATGGGTCAGCTGGGTTCAGGTTGCATCCTGGACACTGTGAGTGATAGATTTGGAGACTTTGGGTTCTGTCCTGCTCCTCTGGAGAGTGTTGGTTTTCTGTTGCAGCAGGCAGTTCACTCGGGTGACTTCAGACTGCATGCTCCCCTGCGTCTGTGCTGGGCTGCGGCATGGTGTTAATTCAGTTCTTGTAGCTTTAGCCGGCTTGCTTGCTTTTGGAGTCTGCCCCTCGTATGTACAGATCGGGGTCAGCCTGAGACGTGGGCGGGTTCCTTCCCAGGCGTTGCAGCTCTCTTTCCTCCCTCACTCTCCAGTTCCTCTGGCTCAGTGAGGGATTTGGGATTTCTGTGTGTGGGGCATGGACAGATACTACTCTTAGTGAAAAGCTGGAAAAAGAGAATGGCTCAGTGCTGTTTCTTCCTTCTGAATGTCCAGCCCTCTGCAGGGTCTGTCTGCTTGTGGATCTCTCCACAGCCTTCAGGTTTTTTTGTACGTTCTGTTCAGTTCATAGTGGTTGTCTCTGGAGGGCTGGTCTGGCGAGGTGCACAGGCATCACCAGAAGTAGCACCCTAAACTTTAATAACTTAATTTTTAAATAAGGAGTTGAGGTCAATCTTACGTGCCTTTTTTTGGGTTTTTTGTTTGTTTCTTTTTGATGAGTTCAGTAGTTTATTGACCTACTTTTTTCTCTTTGAAAGTCAGGAAGTCAGGCATGGTGGCTCACACCTGTAACAATCCCAGCACTTTGGGAGGCTGAGGCTGGCGGATTGCTTGAGCTCAGGAGTTCAAGATCAGCCTGGGCAACATGCAGAACCCTGTCTCTATAAAGGATTGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATTGTGCCCCTGCACTCCAGCCTGGGCGACAGACCCTGTCTCAAAAAAAAAAAAAAGATTAGGATATTTGCCCTCTGCATTCTCCTTCATCCCCCTCTGCACAGGATCCCTTTACAGTGTGCCTTGCAGTTCATCCACCCCTTGCTCAAGGTCTTTCATTGTCCTGGCGTTGACCTTGTACAGATCGGGAGCATCGCACCATTGGCTGCTCTTGCCTCCTGGGCATCCGATCATGCTTGCTGCAGTGGCCCAGCGCTATCTGTGGGGCTGGCGTTCCCCTAACAGAGGCCTGCGGCCGATCTGAGTCCTGCCACTGGTCTTGGTCTGAACAAAGAAGCCTCCGGCTGCTGCCTTTGCTCGGCTGATGTGTGCTGCCTTCGGTTGTTGGTTGCTGTCAAGGCCACGGGCTCCAGAGATAAAGAACAGTCGGTTCTCGGTGCCAGGACGTAGGAGGCATTTTATTTAGTTTTAGACTTGTCCACTTTAGGTTTCTTCCATTGTCATCAACATGAGAATCATTCCTGTTGCTGTGTGCAGCGTAATGGGTGTGTGTGTGGTGAAAATTCCCTGTCTTCAGAGGTGGGTTTGGGTTGTCTCTTCTAATAATCTCTTCCATTAGCGTCTTTCCTCCTAAGGAACTAAATAATGCTAAGCAAAAGACTGAGCTGATGAAACAGGAATTCCAAAGAAAAGAAACGGACTGGAAAGTTATGAAGGAGGAGCTACAGCGGGAAGCTGAGGAGAAGTTAACATTGATGCTACTTGAACTGAGAGAAAAGGCTGAATCCGAGAAACAGACCATCATAAACAAGTTTGAGCTTCGAGAAGCTGAAATGAGGCAGCTTCAGGACCAACAGGCAGCCCAGATCCTGGATCTGGAGAGGTCCTTGACGGAGCAGCAGGGCCGCCTGCAGCAGCTGGAACAGGACCTCACTTCAGACGACGCCCTGCATTGCAGCCAGTGTGGGCGGGAGCCGCCCACAGCCCAGGACGGGGAGCTTGCTGCGCTCCACGTGAAGGAAGACTGCGCCCTGCAGCTGATGCTGGCCCGGAGCAGGTGGGTTTGCAGTGACGCCATCTGCAGTCCCTGTGAGGCCAGACACCTTGGAGGGTAGAAGGTGGGCAGGCTCCTGGGAGGAGGCGCTGTGGGCTCCACTGGGCGAAAAGGTCTGGAGGGAGCTGGAACAAGGTGTGGCGCTCTAGGTTTTCAGCCTAATTGCAGTGGGACAGCTTTGTGCTCGGACGGGCAGGCTGGCAGTTGCCATCCTGAAGCCCCCTGGCCGCAGTGGGACAGCTTTGTGCTCGGACAGGCAGGCTAGCAGTCGCCGTCCCGGAGCCCCCTGGCCGCAGTGGGACAGCTTTGTGCTCGGACGGGCAGGCTGGCAGTTGCTGTCCCGAAGCCCCCAGGCTGCAATGGGGACAGCTTTGTGCTTGGATGGGCAGGCTGGCAGCCGCCACCCCGAAGCCCCCCGGCCACAGTGGGACAGCTTTGTGTTTGGACGGGCAGGCTGGCAGCTGCCGCCCCAAAGCCCCCCAAGTCTGCACTCCCTGGGTGGGTGTCAGGGGCGGGGATCAGTCATTGTCTCTGTTGTTCTTCGTGTGTTTTAAGATTTGAACAGCAGAAGCTAAACCTCTTTTATAGGTGTCATAAGGACATGGAGTTTATCCACTAAGCGTTTTTGTGTTTTTTTTAACTTAAACAGGTGATTTTTAAAAATAAGCATGTTTTTCTGAAACATACACACTCTTCTTTGAAGTTTTCAAGAGGTTTAGAAAGTGATTGGGTTCTTTGCCTGTTGGTGCTGACCCTTTTTGCGAGCCTCAGTCCCAGGGCTGTGCCGTTCTTTCTCATCTGTCTGCCCCACCCAGCCCTTCCCCAGCAACCAGGGCCGCACAGGGCCCCGCTCAGGGATTGGAGAAACTCACGTTCAGGTCGCTGGGGCTGCATGAACACGAGCAGGACGCTCTTCTCACCAGGCTACGACATGCAGTTCGTGGTAGAGCTGAACCAAGGAGGCCCTCAAGAGAGGCTTCCAGGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 321,359 |
Clinical significance of chromosome 21, position 46363671, gene PCNT (pericentrin): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['PCNT-related_disorder']
|
GAGGAAAAATGGCCTTATACTTGCCATTTCTGGTGCTCTTCATTTCTTCTTGAAGATCTGAGTGTTTGGCGTCATTCCCTTCAGCGTGAAGGATCTCCTTCAGCATCTCTTGCTGTGCTGCACACATTTTCTCCGTTTTTTGAAGTCTTTATTTTACCTTGATTCTTGAGGAGTATTTTTGTGGCATTAAAAAGTCTAAGGTGACAGGTTTCTTGTTCAGGATTTAAAGATGTTTAAAATCCTTCTCTGCAGATTTTATGATCTGTTTTGTCTTGGTGTTGGTTTCCATTGATTGTGTTTTCTCTTCAGCAGGGGTCACGTTTTCCTGCTTATTTATGGGTCAGCTGGGTTCAGGTTGCATCCTGGACACTGTGAGTGATAGATTTGGAGACTTTGGGTTCTGTCCTGCTCCTCTGGAGAGTGTTGGTTTTCTGTTGCAGCAGGCAGTTCACTCGGGTGACTTCAGACTGCATGCTCCCCTGCGTCTGTGCTGGGCTGCGGCATGGTGTTAATTCAGTTCTTGTAGCTTTAGCCGGCTTGCTTGCTTTTGGAGTCTGCCCCTCGTATGTACAGATCGGGGTCAGCCTGAGACGTGGGCGGGTTCCTTCCCAGGCGTTGCAGCTCTCTTTCCTCCCTCACTCTCCAGTTCCTCTGGCTCAGTGAGGGATTTGGGATTTCTGTGTGTGGGGCATGGACAGATACTACTCTTAGTGAAAAGCTGGAAAAAGAGAATGGCTCAGTGCTGTTTCTTCCTTCTGAATGTCCAGCCCTCTGCAGGGTCTGTCTGCTTGTGGATCTCTCCACAGCCTTCAGGTTTTTTTGTACGTTCTGTTCAGTTCATAGTGGTTGTCTCTGGAGGGCTGGTCTGGCGAGGTGCACAGGCATCACCAGAAGTAGCACCCTAAACTTTAATAACTTAATTTTTAAATAAGGAGTTGAGGTCAATCTTACGTGCCTTTTTTTGGGTTTTTTGTTTGTTTCTTTTTGATGAGTTCAGTAGTTTATTGACCTACTTTTTTCTCTTTGAAAGTCAGGAAGTCAGGCATGGTGGCTCACACCTGTAACAATCCCAGCACTTTGGGAGGCTGAGGCTGGCGGATTGCTTGAGCTCAGGAGTTCAAGATCAGCCTGGGCAACATGCAGAACCCTGTCTCTATAAAGGATTGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATTGTGCCCCTGCACTCCAGCCTGGGCGACAGACCCTGTCTCAAAAAAAAAAAAAAGATTAGGATATTTGCCCTCTGCATTCTCCTTCATCCCCCTCTGCACAGGATCCCTTTACAGTGTGCCTTGCAGTTCATCCACCCCTTGCTCAAGGTCTTTCATTGTCCTGGCGTTGACCTTGTACAGATCGGGAGCATCGCACCATTGGCTGCTCTTGCCTCCTGGGCATCCGATCATGCTTGCTGCAGTGGCCCAGCGCTATCTGTGGGGCTGGCGTTCCCCTAACAGAGGCCTGCGGCCGATCTGAGTCCTGCCACTGGTCTTGGTCTGAACAAAGAAGCCTCCGGCTGCTGCCTTTGCTCGGCTGATGTGTGCTGCCTTCGGTTGTTGGTTGCTGTCAAGGCCACGGGCTCCAGAGATAAAGAACAGTCGGTTCTCGGTGCCAGGACGTAGGAGGCATTTTATTTAGTTTTAGACTTGTCCACTTTAGGTTTCTTCCATTGTCATCAACATGAGAATCATTCCTGTTGCTGTGTGCAGCGTAATGGGTGTGTGTGTGGTGAAAATTCCCTGTCTTCAGAGGTGGGTTTGGGTTGTCTCTTCTAATAATCTCTTCCATTAGCGTCTTTCCTCCTAAATGAAATTATGTTGTCTGTAGGTAAAACACAATCTAATTGAAGACCACCAGAAGGAACTAAATAATGCTAAGCAAAAGACTGAGCTGATGAAACAGGAATTCCAAAGAAAAGAAACGGACTGGAAAGTTATGAAGGAGGAGCTACAGCGGGAAGCTGAGGAGAAGTTAACATTGATGCTACTTGAACTGAGAGAAAAGGCTGAATCCGAGAAACAGACCATCATAAACAAGTTTGAGCTTCGAGAAGCTGAAATGAGGCAGCTTCAGGACCAACAGGCAGCCCAGATCCTGGATCTGGAGAGGTCCTTGACGGAGCAGCAGGGCCGCCTGCAGCAGCTGGAACAGGACCTCACTTCAGACGACGCCCTGCATTGCAGCCAGTGTGGGCGGGAGCCGCCCACAGCCCAGGACGGGGAGCTTGCTGCGCTCCACGTGAAGGAAGACTGCGCCCTGCAGCTGATGCTGGCCCGGAGCAGGTGGGTTTGCAGTGACGCCATCTGCAGTCCCTGTGAGGCCAGACACCTTGGAGGGTAGAAGGTGGGCAGGCTCCTGGGAGGAGGCGCTGTGGGCTCCACTGGGCGAAAAGGTCTGGAGGGAGCTGGAACAAGGTGTGGCGCTCTAGGTTTTCAGCCTAATTGCAGTGGGACAGCTTTGTGCTCGGACGGGCAGGCTGGCAGTTGCCATCCTGAAGCCCCCTGGCCGCAGTGGGACAGCTTTGTGCTCGGACAGGCAGGCTAGCAGTCGCCGTCCCGGAGCCCCCTGGCCGCAGTGGGACAGCTTTGTGCTCGGACGGGCAGGCTGGCAGTTGCTGTCCCGAAGCCCCCAGGCTGCAATGGGGACAGCTTTGTGCTTGGATGGGCAGGCTGGCAGCCGCCACCCCGAAGCCCCCCGGCCACAGTGGGACAGCTTTGTGTTTGGACGGGCAGGCTGGCAGCTGCCGCCCCAAAGCCCCCCAAGTCTGCACTCCCTGGGTGGGTGTCAGGGGCGGGGATCAGTCATTGTCTCTGTTGTTCTTCGTGTGTTTTAAGATTTGAACAGCAGAAGCTAAACCTCTTTTATAGGTGTCATAAGGACATGGAGTTTATCCACTAAGCGTTTTTGTGTTTTTTTTAACTTAAACAGGTGATTTTTAAAAATAAGCATGTTTTTCTGAAACATACACACTCTTCTTTGAAGTTTTCAAGAGGTTTAGAAAGTGATTGGGTTCTTTGCCTGTTGGTGCTGACCCTTTTTGCGAGCCTCAGTCCCAGGGCTGTGCCGTTCTTTCTCATCTGTCTGCCCCACCCAGCCCTTCCCCAGCAACCAGGGCCGCACAGGGCCCCGCTCAGGGATTGGAGAAACTCACGTTCAGGTCGCTGGGGCTGCATGAACACGAGCAGGACGCTCTTCTCACCAGGCTACGACATGCAGTTCGTGGTAGAGCTGAACCAAGGAGGCCCTCAAGAGAGGCTTCCAGGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTCCCATGGGGTTCTGATCACTGCCATGGCCTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCTGTGGGGTTCTGTTCACT
|
GAGGAAAAATGGCCTTATACTTGCCATTTCTGGTGCTCTTCATTTCTTCTTGAAGATCTGAGTGTTTGGCGTCATTCCCTTCAGCGTGAAGGATCTCCTTCAGCATCTCTTGCTGTGCTGCACACATTTTCTCCGTTTTTTGAAGTCTTTATTTTACCTTGATTCTTGAGGAGTATTTTTGTGGCATTAAAAAGTCTAAGGTGACAGGTTTCTTGTTCAGGATTTAAAGATGTTTAAAATCCTTCTCTGCAGATTTTATGATCTGTTTTGTCTTGGTGTTGGTTTCCATTGATTGTGTTTTCTCTTCAGCAGGGGTCACGTTTTCCTGCTTATTTATGGGTCAGCTGGGTTCAGGTTGCATCCTGGACACTGTGAGTGATAGATTTGGAGACTTTGGGTTCTGTCCTGCTCCTCTGGAGAGTGTTGGTTTTCTGTTGCAGCAGGCAGTTCACTCGGGTGACTTCAGACTGCATGCTCCCCTGCGTCTGTGCTGGGCTGCGGCATGGTGTTAATTCAGTTCTTGTAGCTTTAGCCGGCTTGCTTGCTTTTGGAGTCTGCCCCTCGTATGTACAGATCGGGGTCAGCCTGAGACGTGGGCGGGTTCCTTCCCAGGCGTTGCAGCTCTCTTTCCTCCCTCACTCTCCAGTTCCTCTGGCTCAGTGAGGGATTTGGGATTTCTGTGTGTGGGGCATGGACAGATACTACTCTTAGTGAAAAGCTGGAAAAAGAGAATGGCTCAGTGCTGTTTCTTCCTTCTGAATGTCCAGCCCTCTGCAGGGTCTGTCTGCTTGTGGATCTCTCCACAGCCTTCAGGTTTTTTTGTACGTTCTGTTCAGTTCATAGTGGTTGTCTCTGGAGGGCTGGTCTGGCGAGGTGCACAGGCATCACCAGAAGTAGCACCCTAAACTTTAATAACTTAATTTTTAAATAAGGAGTTGAGGTCAATCTTACGTGCCTTTTTTTGGGTTTTTTGTTTGTTTCTTTTTGATGAGTTCAGTAGTTTATTGACCTACTTTTTTCTCTTTGAAAGTCAGGAAGTCAGGCATGGTGGCTCACACCTGTAACAATCCCAGCACTTTGGGAGGCTGAGGCTGGCGGATTGCTTGAGCTCAGGAGTTCAAGATCAGCCTGGGCAACATGCAGAACCCTGTCTCTATAAAGGATTGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATTGTGCCCCTGCACTCCAGCCTGGGCGACAGACCCTGTCTCAAAAAAAAAAAAAAGATTAGGATATTTGCCCTCTGCATTCTCCTTCATCCCCCTCTGCACAGGATCCCTTTACAGTGTGCCTTGCAGTTCATCCACCCCTTGCTCAAGGTCTTTCATTGTCCTGGCGTTGACCTTGTACAGATCGGGAGCATCGCACCATTGGCTGCTCTTGCCTCCTGGGCATCCGATCATGCTTGCTGCAGTGGCCCAGCGCTATCTGTGGGGCTGGCGTTCCCCTAACAGAGGCCTGCGGCCGATCTGAGTCCTGCCACTGGTCTTGGTCTGAACAAAGAAGCCTCCGGCTGCTGCCTTTGCTCGGCTGATGTGTGCTGCCTTCGGTTGTTGGTTGCTGTCAAGGCCACGGGCTCCAGAGATAAAGAACAGTCGGTTCTCGGTGCCAGGACGTAGGAGGCATTTTATTTAGTTTTAGACTTGTCCACTTTAGGTTTCTTCCATTGTCATCAACATGAGAATCATTCCTGTTGCTGTGTGCAGCGTAATGGGTGTGTGTGTGGTGAAAATTCCCTGTCTTCAGAGGTGGGTTTGGGTTGTCTCTTCTAATAATCTCTTCCATTAGCGTCTTTCCTCCTAAATGAAATTATGTTGTCTGTAGGTAAAACACAATCTAATTGAAGACCACCAGAAGGAACTAAATAATGCTAAGCAAAAGACTGAGCTGATGAAACAGGAATTCCAAAGAAAAGAAACGGACTGGAAAGTTATGAAGGAGGAGCTACAGCGGGAAGCTGAGGAGAAGTTAACATTGATGCTACTTGAACTGAGAGAAAAGGCTGAATCCGAGAAACCAGACCATCATAAACAAGTTTGAGCTTCGAGAAGCTGAAATGAGGCAGCTTCAGGACCAACAGGCAGCCCAGATCCTGGATCTGGAGAGGTCCTTGACGGAGCAGCAGGGCCGCCTGCAGCAGCTGGAACAGGACCTCACTTCAGACGACGCCCTGCATTGCAGCCAGTGTGGGCGGGAGCCGCCCACAGCCCAGGACGGGGAGCTTGCTGCGCTCCACGTGAAGGAAGACTGCGCCCTGCAGCTGATGCTGGCCCGGAGCAGGTGGGTTTGCAGTGACGCCATCTGCAGTCCCTGTGAGGCCAGACACCTTGGAGGGTAGAAGGTGGGCAGGCTCCTGGGAGGAGGCGCTGTGGGCTCCACTGGGCGAAAAGGTCTGGAGGGAGCTGGAACAAGGTGTGGCGCTCTAGGTTTTCAGCCTAATTGCAGTGGGACAGCTTTGTGCTCGGACGGGCAGGCTGGCAGTTGCCATCCTGAAGCCCCCTGGCCGCAGTGGGACAGCTTTGTGCTCGGACAGGCAGGCTAGCAGTCGCCGTCCCGGAGCCCCCTGGCCGCAGTGGGACAGCTTTGTGCTCGGACGGGCAGGCTGGCAGTTGCTGTCCCGAAGCCCCCAGGCTGCAATGGGGACAGCTTTGTGCTTGGATGGGCAGGCTGGCAGCCGCCACCCCGAAGCCCCCCGGCCACAGTGGGACAGCTTTGTGTTTGGACGGGCAGGCTGGCAGCTGCCGCCCCAAAGCCCCCCAAGTCTGCACTCCCTGGGTGGGTGTCAGGGGCGGGGATCAGTCATTGTCTCTGTTGTTCTTCGTGTGTTTTAAGATTTGAACAGCAGAAGCTAAACCTCTTTTATAGGTGTCATAAGGACATGGAGTTTATCCACTAAGCGTTTTTGTGTTTTTTTTAACTTAAACAGGTGATTTTTAAAAATAAGCATGTTTTTCTGAAACATACACACTCTTCTTTGAAGTTTTCAAGAGGTTTAGAAAGTGATTGGGTTCTTTGCCTGTTGGTGCTGACCCTTTTTGCGAGCCTCAGTCCCAGGGCTGTGCCGTTCTTTCTCATCTGTCTGCCCCACCCAGCCCTTCCCCAGCAACCAGGGCCGCACAGGGCCCCGCTCAGGGATTGGAGAAACTCACGTTCAGGTCGCTGGGGCTGCATGAACACGAGCAGGACGCTCTTCTCACCAGGCTACGACATGCAGTTCGTGGTAGAGCTGAACCAAGGAGGCCCTCAAGAGAGGCTTCCAGGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTCCCATGGGGTTCTGATCACTGCCATGGCCTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCTGTGGGGTTCTGTTCAC
|
pathogenic
| 321,363 |
Regarding the variant at chromosome 21 and position 46366954, affecting gene PCNT (pericentrin): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
GGCTTCCAGGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTCCCATGGGGTTCTGATCACTGCCATGGCCTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCTGTGGGGTTCTGTTCACTGCTGTGGGGTTCTATTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCCGTTCACTGCCACAGGGTTCTGTTCACTGCCGTGGGGTTCTATTCACTCACTGTCGTGGGGTTCTGTTCACTGCCATGGGGTTCTATTCATTCACTGCTGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCATGGGGTTCTAGTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTGCCTTGGGGTTCTATTCACTCACTGCCTTGGGGTTCTATTCACTGCCATGAGGTTCTATTCATTCACTGCCATGGGGTTCAATTCACTGCCATGGGGTTCTCAGGCCTCGCCCTCCCCATGGGCCCCCATGGGCAGTGCCCCTTCCCTGTTGAGGAGCAGAGATTACCTTGGGATTCTTGGTTGGATGCTGGCTCGGACGCTGTGGTGTGAGTAGGAGGTTGGTTGTGCCTGCCGTGCGTGGCTCTGGCGGGGATGTGTGTGTGCCATCTCTTGCTGAGGGCGCTGGTTCCTACCTGTGGTCTGTGACCTGGCGACTCCCATGGCTTTGGCCTTTGGCCTCTGGGCTTCTCTGGCTTCATGGGGCCTCTTCACTCTCCCACTTACTATTTCTGGTGGTCGAGGGAAAAGTAGTAAGAGCAGTTAAAATCCCGAAACGATGACCTGAACAGTTGAAGTGGCATTTCCTGTGGGAAACTGACTTGGCTTTTGCAAGGGTCATTGCTTCCTGATGCATGTTTAACTGTCCTGTGTTCACTTTGTTGCCGCAGGTTTTTAGAGGAACGTAAAGAGATCACCGAGAAATTCAGTGCGGAACAAGATGCCTTCCTGCAGGAGGCCCAGGAGCAGCATGCCCGTGAGCTGCAGCTCCTCCAGGAGAGACACCAGCAGCAGCTCCTGTCAGTGACGGCGGAGCTCGAGGCCAGACACCAGGCCGCGTTGGGCGAGCTGACAGCCTCCTTAGAGAGCAAGCAGGGGGCTCTGCTGGCTGCACGTGTGGCCGAACTGCAGACAAAACACGCTGCCGACCTCGGCGCTCTGGAGACCAGACATCTGTCCAGCCTTGATTCTTTGGAATCCTGTTACCTCTCTGAATTTCAGACCATCCGTGAGGAGCACAGGCAGGCCCTAGAGCTCTTACGAGCAGACTTTGAGGAACAACTGTGGAAAAAGGACTCTCTTCACCAAACGATTTTGACTCAAGAGTTGGAGAAACTGAAGCGGAAACACGAAGGGGAGCTACAGTCTGTGCGGGACCACCTGCGAACCGAAGTGAGCACAGAGCTCGCCGGAACCGTGGCTCACGAGCTGCAGGGAGTGCACCAGGTAAGGCGCCAGGGCCCTGCCCCAGCCCAGGGCAGGCCTCTCCTCGCTGCCTGTGTGTTTCCACCGCGTGTCACATGTCTGCGTGCGTGCTGTGTGTGCCTGTGCGGGTGTCTGTGTGTCTCACAGGCTGCCGAGATCAGTGGGGACTTCTGGTCTCTTTGTGAACTGGGCTTTTTTTTTTTTTTTTGAGCCGGAGTCTCACTCTTTCGCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCTGCCACCATGCGCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGCTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAGGCGATCCACCCGCCTTGACTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGAGCTGGGCTTTAAAACACTGAGTTGAAGGGTTATTTTGATCGCAGGCACCTTGTTAAAGGCTTTGCTCTCGTACGTATGTGGGAGGGCCTAGACCTTGGTGGGGGATTTTGTGGGCTTTGGAGTATTCCTCAAGGCTGACCAGCACCTCTGCAGAAGACTTGGTTTCCAGGCTGCTGTGGGAAGATCTGATGGTCATGTTGTGTATTCAGAGCCTTGGTCCCCTCCTTTTATTGATGTTTCCTGAAATAAAACCCTTTTGCTACATTTCAAGAGCAGTGATGGGCCAGGCACAATGGCTCACGTCTGTAATCACAGCAGTTTAGGAGGCTGAGGCAGTTGGATTACTTGAGCCCAGGAGTTTGAAACCAGCCTGTGGGCTACGAAAATTAAAAACAATTCACCGGGCGTGGGGGCACGCACCTGTAGTCTCAGCTACTTTGGAGGCTGAAGCAGGAGGATTGCTTGAGCCCAGGAAGTCGAGGCTGCAGGGTGAGCTAAGACTGTGCCACTGCACTCCAGCCTGGGCTGTAACAGAGTGAGACCCTGTCTCAAAAAAAAAACAAAAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGTGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATCCAAAAAAAAATTAGCTGGGGGTGGTGGCGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGAGCTTGCAGTGATCCGAGATCGCACCAGTGCACTCCAGCCTGGGAGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGCGGTGATGGTTCATTTGACAGGCACTTCCAAGTTTTTATCATGAAGAAGAATTTCTGGCGAAGTCCCTCTTGCCCTGGGCTGGCGCCTGACTGCAGAAGCTGCAGTGCCTGTGACTCAGGAAAGGACACGTGTTGTCGTATCACACACACCTTGTGCTTTCTCTGCCCTCAGTGAGGTCTCTGAGGTTTTCTCACCTTGAAATAGATGAGTCTGCTCTGTTGAGCATGTGGAGCCACTGGGGCTGGCCTATCTCCCTGCAGGAAGGGGATGCATAGGCCTGGCTGCACGGTGGATGGGGCATGGGCTAGAGCTGATGAGGCAGTTAGAAATGGTTGTTCTGGCAGATCAATACCTTGTCAGACGTTTAAGAAGTACACGTTCCAAACTATAAACGAGGGAATTGCCAGCTTGGATAAGGTGGATACGTTGATTTCCTGATACCAGCATGCCACGGGAGGGCTTCCTCCTTCCTGACTGTGGGGAACAGTTGTGAGGCTCCAAAGCGTTGGCTTATTGTTTGCTTTCCTTCAGCTCTGTGTA
|
GGCTTCCAGGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTCCCATGGGGTTCTGATCACTGCCATGGCCTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCTGTGGGGTTCTGTTCACTGCTGTGGGGTTCTATTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCCGTTCACTGCCACAGGGTTCTGTTCACTGCCGTGGGGTTCTATTCACTCACTGTCGTGGGGTTCTGTTCACTGCCATGGGGTTCTATTCATTCACTGCTGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCATGGGGTTCTAGTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTGCCTTGGGGTTCTATTCACTCACTGCCTTGGGGTTCTATTCACTGCCATGAGGTTCTATTCATTCACTGCCATGGGGTTCAATTCACTGCCATGGGGTTCTCAGGCCTCGCCCTCCCCATGGGCCCCCATGGGCAGTGCCCCTTCCCTGTTGAGGAGCAGAGATTACCTTGGGATTCTTGGTTGGATGCTGGCTCGGACGCTGTGGTGTGAGTAGGAGGTTGGTTGTGCCTGCCGTGCGTGGCTCTGGCGGGGATGTGTGTGTGCCATCTCTTGCTGAGGGCGCTGGTTCCTACCTGTGGTCTGTGACCTGGCGACTCCCATGGCTTTGGCCTTTGGCCTCTGGGCTTCTCTGGCTTCATGGGGCCTCTTCACTCTCCCACTTACTATTTCTGGTGGTCGAGGGAAAAGTAGTAAGAGCAGTTAAAATCCCGAAACGATGACCTGAACAGTTGAAGTGGCATTTCCTGTGGGAAACTGACTTGGCTTTTGCAAGGGTCATTGCTTCCTGATGCATGTTTAACTGTCCTGTGTTCACTTTGTTGCCGCAGGTTTTTAGAGGAACGTAAAGAGATCACCGAGAAATTCAGTGCGGAACAAGATGCCTTCCTGCAGGAGGCCCAGGAGCAGCATGCCCGTGAGCTGCAGCTCCTCCAGGAGAGACACCAGCAGCAGCTCCTGTCAGTGACGGCGGAGCTCGAGGCCAGACACCAGGCCGCGTTGGGCGAGCTGACAGCCTCCTTAGAGAGCAAGCAGGGGGCTCTGCTGGCTGCACGTGTGGCCGAACTGCAGACAAAACACGCTGCCGACCTCGGCGCTCTGGAGACCAGACATCTGTCCAGCCTTGATTCTTTGGAATCCTGTTACCTCTCTGAATTTCAGACCATCCGTGAGGAGCACAGGCAGGCCCTAGAGCTCTTACGAGGAACAACTGTGGAAAAAGGACTCTCTTCACCAAACGATTTTGACTCAAGAGTTGGAGAAACTGAAGCGGAAACACGAAGGGGAGCTACAGTCTGTGCGGGACCACCTGCGAACCGAAGTGAGCACAGAGCTCGCCGGAACCGTGGCTCACGAGCTGCAGGGAGTGCACCAGGTAAGGCGCCAGGGCCCTGCCCCAGCCCAGGGCAGGCCTCTCCTCGCTGCCTGTGTGTTTCCACCGCGTGTCACATGTCTGCGTGCGTGCTGTGTGTGCCTGTGCGGGTGTCTGTGTGTCTCACAGGCTGCCGAGATCAGTGGGGACTTCTGGTCTCTTTGTGAACTGGGCTTTTTTTTTTTTTTTTGAGCCGGAGTCTCACTCTTTCGCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCTGCCACCATGCGCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGCTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAGGCGATCCACCCGCCTTGACTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGAGCTGGGCTTTAAAACACTGAGTTGAAGGGTTATTTTGATCGCAGGCACCTTGTTAAAGGCTTTGCTCTCGTACGTATGTGGGAGGGCCTAGACCTTGGTGGGGGATTTTGTGGGCTTTGGAGTATTCCTCAAGGCTGACCAGCACCTCTGCAGAAGACTTGGTTTCCAGGCTGCTGTGGGAAGATCTGATGGTCATGTTGTGTATTCAGAGCCTTGGTCCCCTCCTTTTATTGATGTTTCCTGAAATAAAACCCTTTTGCTACATTTCAAGAGCAGTGATGGGCCAGGCACAATGGCTCACGTCTGTAATCACAGCAGTTTAGGAGGCTGAGGCAGTTGGATTACTTGAGCCCAGGAGTTTGAAACCAGCCTGTGGGCTACGAAAATTAAAAACAATTCACCGGGCGTGGGGGCACGCACCTGTAGTCTCAGCTACTTTGGAGGCTGAAGCAGGAGGATTGCTTGAGCCCAGGAAGTCGAGGCTGCAGGGTGAGCTAAGACTGTGCCACTGCACTCCAGCCTGGGCTGTAACAGAGTGAGACCCTGTCTCAAAAAAAAAACAAAAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGTGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATCCAAAAAAAAATTAGCTGGGGGTGGTGGCGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGAGCTTGCAGTGATCCGAGATCGCACCAGTGCACTCCAGCCTGGGAGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGCGGTGATGGTTCATTTGACAGGCACTTCCAAGTTTTTATCATGAAGAAGAATTTCTGGCGAAGTCCCTCTTGCCCTGGGCTGGCGCCTGACTGCAGAAGCTGCAGTGCCTGTGACTCAGGAAAGGACACGTGTTGTCGTATCACACACACCTTGTGCTTTCTCTGCCCTCAGTGAGGTCTCTGAGGTTTTCTCACCTTGAAATAGATGAGTCTGCTCTGTTGAGCATGTGGAGCCACTGGGGCTGGCCTATCTCCCTGCAGGAAGGGGATGCATAGGCCTGGCTGCACGGTGGATGGGGCATGGGCTAGAGCTGATGAGGCAGTTAGAAATGGTTGTTCTGGCAGATCAATACCTTGTCAGACGTTTAAGAAGTACACGTTCCAAACTATAAACGAGGGAATTGCCAGCTTGGATAAGGTGGATACGTTGATTTCCTGATACCAGCATGCCACGGGAGGGCTTCCTCCTTCCTGACTGTGGGGAACAGTTGTGAGGCTCCAAAGCGTTGGCTTATTGTTTGCTTTCCTTCAGCTCTGTGTANNNNNNNNNNN
|
pathogenic
| 321,374 |
Variant in gene PCNT (pericentrin), located at chromosome 21 position 46366962: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
GGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTCCCATGGGGTTCTGATCACTGCCATGGCCTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCTGTGGGGTTCTGTTCACTGCTGTGGGGTTCTATTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCCGTTCACTGCCACAGGGTTCTGTTCACTGCCGTGGGGTTCTATTCACTCACTGTCGTGGGGTTCTGTTCACTGCCATGGGGTTCTATTCATTCACTGCTGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCATGGGGTTCTAGTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTGCCTTGGGGTTCTATTCACTCACTGCCTTGGGGTTCTATTCACTGCCATGAGGTTCTATTCATTCACTGCCATGGGGTTCAATTCACTGCCATGGGGTTCTCAGGCCTCGCCCTCCCCATGGGCCCCCATGGGCAGTGCCCCTTCCCTGTTGAGGAGCAGAGATTACCTTGGGATTCTTGGTTGGATGCTGGCTCGGACGCTGTGGTGTGAGTAGGAGGTTGGTTGTGCCTGCCGTGCGTGGCTCTGGCGGGGATGTGTGTGTGCCATCTCTTGCTGAGGGCGCTGGTTCCTACCTGTGGTCTGTGACCTGGCGACTCCCATGGCTTTGGCCTTTGGCCTCTGGGCTTCTCTGGCTTCATGGGGCCTCTTCACTCTCCCACTTACTATTTCTGGTGGTCGAGGGAAAAGTAGTAAGAGCAGTTAAAATCCCGAAACGATGACCTGAACAGTTGAAGTGGCATTTCCTGTGGGAAACTGACTTGGCTTTTGCAAGGGTCATTGCTTCCTGATGCATGTTTAACTGTCCTGTGTTCACTTTGTTGCCGCAGGTTTTTAGAGGAACGTAAAGAGATCACCGAGAAATTCAGTGCGGAACAAGATGCCTTCCTGCAGGAGGCCCAGGAGCAGCATGCCCGTGAGCTGCAGCTCCTCCAGGAGAGACACCAGCAGCAGCTCCTGTCAGTGACGGCGGAGCTCGAGGCCAGACACCAGGCCGCGTTGGGCGAGCTGACAGCCTCCTTAGAGAGCAAGCAGGGGGCTCTGCTGGCTGCACGTGTGGCCGAACTGCAGACAAAACACGCTGCCGACCTCGGCGCTCTGGAGACCAGACATCTGTCCAGCCTTGATTCTTTGGAATCCTGTTACCTCTCTGAATTTCAGACCATCCGTGAGGAGCACAGGCAGGCCCTAGAGCTCTTACGAGCAGACTTTGAGGAACAACTGTGGAAAAAGGACTCTCTTCACCAAACGATTTTGACTCAAGAGTTGGAGAAACTGAAGCGGAAACACGAAGGGGAGCTACAGTCTGTGCGGGACCACCTGCGAACCGAAGTGAGCACAGAGCTCGCCGGAACCGTGGCTCACGAGCTGCAGGGAGTGCACCAGGTAAGGCGCCAGGGCCCTGCCCCAGCCCAGGGCAGGCCTCTCCTCGCTGCCTGTGTGTTTCCACCGCGTGTCACATGTCTGCGTGCGTGCTGTGTGTGCCTGTGCGGGTGTCTGTGTGTCTCACAGGCTGCCGAGATCAGTGGGGACTTCTGGTCTCTTTGTGAACTGGGCTTTTTTTTTTTTTTTTGAGCCGGAGTCTCACTCTTTCGCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCTGCCACCATGCGCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGCTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAGGCGATCCACCCGCCTTGACTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGAGCTGGGCTTTAAAACACTGAGTTGAAGGGTTATTTTGATCGCAGGCACCTTGTTAAAGGCTTTGCTCTCGTACGTATGTGGGAGGGCCTAGACCTTGGTGGGGGATTTTGTGGGCTTTGGAGTATTCCTCAAGGCTGACCAGCACCTCTGCAGAAGACTTGGTTTCCAGGCTGCTGTGGGAAGATCTGATGGTCATGTTGTGTATTCAGAGCCTTGGTCCCCTCCTTTTATTGATGTTTCCTGAAATAAAACCCTTTTGCTACATTTCAAGAGCAGTGATGGGCCAGGCACAATGGCTCACGTCTGTAATCACAGCAGTTTAGGAGGCTGAGGCAGTTGGATTACTTGAGCCCAGGAGTTTGAAACCAGCCTGTGGGCTACGAAAATTAAAAACAATTCACCGGGCGTGGGGGCACGCACCTGTAGTCTCAGCTACTTTGGAGGCTGAAGCAGGAGGATTGCTTGAGCCCAGGAAGTCGAGGCTGCAGGGTGAGCTAAGACTGTGCCACTGCACTCCAGCCTGGGCTGTAACAGAGTGAGACCCTGTCTCAAAAAAAAAACAAAAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGTGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATCCAAAAAAAAATTAGCTGGGGGTGGTGGCGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGAGCTTGCAGTGATCCGAGATCGCACCAGTGCACTCCAGCCTGGGAGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGCGGTGATGGTTCATTTGACAGGCACTTCCAAGTTTTTATCATGAAGAAGAATTTCTGGCGAAGTCCCTCTTGCCCTGGGCTGGCGCCTGACTGCAGAAGCTGCAGTGCCTGTGACTCAGGAAAGGACACGTGTTGTCGTATCACACACACCTTGTGCTTTCTCTGCCCTCAGTGAGGTCTCTGAGGTTTTCTCACCTTGAAATAGATGAGTCTGCTCTGTTGAGCATGTGGAGCCACTGGGGCTGGCCTATCTCCCTGCAGGAAGGGGATGCATAGGCCTGGCTGCACGGTGGATGGGGCATGGGCTAGAGCTGATGAGGCAGTTAGAAATGGTTGTTCTGGCAGATCAATACCTTGTCAGACGTTTAAGAAGTACACGTTCCAAACTATAAACGAGGGAATTGCCAGCTTGGATAAGGTGGATACGTTGATTTCCTGATACCAGCATGCCACGGGAGGGCTTCCTCCTTCCTGACTGTGGGGAACAGTTGTGAGGCTCCAAAGCGTTGGCTTATTGTTTGCTTTCCTTCAGCTCTGTGTAAGAACAGG
|
GGCGCAGAGGTGCCTGTGCCTCTTGCCATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTCCCATGGGGTTCTGATCACTGCCATGGCCTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCTGTGGGGTTCTGTTCACTGCTGTGGGGTTCTATTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCCGTTCACTGCCACAGGGTTCTGTTCACTGCCGTGGGGTTCTATTCACTCACTGTCGTGGGGTTCTGTTCACTGCCATGGGGTTCTATTCATTCACTGCTGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCATGGGGTTCTAGTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTGCCTTGGGGTTCTATTCACTCACTGCCTTGGGGTTCTATTCACTGCCATGAGGTTCTATTCATTCACTGCCATGGGGTTCAATTCACTGCCATGGGGTTCTCAGGCCTCGCCCTCCCCATGGGCCCCCATGGGCAGTGCCCCTTCCCTGTTGAGGAGCAGAGATTACCTTGGGATTCTTGGTTGGATGCTGGCTCGGACGCTGTGGTGTGAGTAGGAGGTTGGTTGTGCCTGCCGTGCGTGGCTCTGGCGGGGATGTGTGTGTGCCATCTCTTGCTGAGGGCGCTGGTTCCTACCTGTGGTCTGTGACCTGGCGACTCCCATGGCTTTGGCCTTTGGCCTCTGGGCTTCTCTGGCTTCATGGGGCCTCTTCACTCTCCCACTTACTATTTCTGGTGGTCGAGGGAAAAGTAGTAAGAGCAGTTAAAATCCCGAAACGATGACCTGAACAGTTGAAGTGGCATTTCCTGTGGGAAACTGACTTGGCTTTTGCAAGGGTCATTGCTTCCTGATGCATGTTTAACTGTCCTGTGTTCACTTTGTTGCCGCAGGTTTTTAGAGGAACGTAAAGAGATCACCGAGAAATTCAGTGCGGAACAAGATGCCTTCCTGCAGGAGGCCCAGGAGCAGCATGCCCGTGAGCTGCAGCTCCTCCAGGAGAGACACCAGCAGCAGCTCCTGTCAGTGACGGCGGAGCTCGAGGCCAGACACCAGGCCGCGTTGGGCGAGCTGACAGCCTCCTTAGAGAGCAAGCAGGGGGCTCTGCTGGCTGCACGTGTGGCCGAACTGCAGACAAAACACGCTGCCGACCTCGGCGCTCTGGAGACCAGACATCTGTCCAGCCTTGATTCTTTGGAATCCTGTTACCTCTCTGAATTTCAGACCATCCGTGAGGAGCACAGGCAGGCCCTAGAGCTCTTACGAGCAGACTTTTTGAGGAACAACTGTGGAAAAAGGACTCTCTTCACCAAACGATTTTGACTCAAGAGTTGGAGAAACTGAAGCGGAAACACGAAGGGGAGCTACAGTCTGTGCGGGACCACCTGCGAACCGAAGTGAGCACAGAGCTCGCCGGAACCGTGGCTCACGAGCTGCAGGGAGTGCACCAGGTAAGGCGCCAGGGCCCTGCCCCAGCCCAGGGCAGGCCTCTCCTCGCTGCCTGTGTGTTTCCACCGCGTGTCACATGTCTGCGTGCGTGCTGTGTGTGCCTGTGCGGGTGTCTGTGTGTCTCACAGGCTGCCGAGATCAGTGGGGACTTCTGGTCTCTTTGTGAACTGGGCTTTTTTTTTTTTTTTTGAGCCGGAGTCTCACTCTTTCGCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCTGCCACCATGCGCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGCTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAGGCGATCCACCCGCCTTGACTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGAGCTGGGCTTTAAAACACTGAGTTGAAGGGTTATTTTGATCGCAGGCACCTTGTTAAAGGCTTTGCTCTCGTACGTATGTGGGAGGGCCTAGACCTTGGTGGGGGATTTTGTGGGCTTTGGAGTATTCCTCAAGGCTGACCAGCACCTCTGCAGAAGACTTGGTTTCCAGGCTGCTGTGGGAAGATCTGATGGTCATGTTGTGTATTCAGAGCCTTGGTCCCCTCCTTTTATTGATGTTTCCTGAAATAAAACCCTTTTGCTACATTTCAAGAGCAGTGATGGGCCAGGCACAATGGCTCACGTCTGTAATCACAGCAGTTTAGGAGGCTGAGGCAGTTGGATTACTTGAGCCCAGGAGTTTGAAACCAGCCTGTGGGCTACGAAAATTAAAAACAATTCACCGGGCGTGGGGGCACGCACCTGTAGTCTCAGCTACTTTGGAGGCTGAAGCAGGAGGATTGCTTGAGCCCAGGAAGTCGAGGCTGCAGGGTGAGCTAAGACTGTGCCACTGCACTCCAGCCTGGGCTGTAACAGAGTGAGACCCTGTCTCAAAAAAAAAACAAAAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGTGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATCCAAAAAAAAATTAGCTGGGGGTGGTGGCGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGAGCTTGCAGTGATCCGAGATCGCACCAGTGCACTCCAGCCTGGGAGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGCGGTGATGGTTCATTTGACAGGCACTTCCAAGTTTTTATCATGAAGAAGAATTTCTGGCGAAGTCCCTCTTGCCCTGGGCTGGCGCCTGACTGCAGAAGCTGCAGTGCCTGTGACTCAGGAAAGGACACGTGTTGTCGTATCACACACACCTTGTGCTTTCTCTGCCCTCAGTGAGGTCTCTGAGGTTTTCTCACCTTGAAATAGATGAGTCTGCTCTGTTGAGCATGTGGAGCCACTGGGGCTGGCCTATCTCCCTGCAGGAAGGGGATGCATAGGCCTGGCTGCACGGTGGATGGGGCATGGGCTAGAGCTGATGAGGCAGTTAGAAATGGTTGTTCTGGCAGATCAATACCTTGTCAGACGTTTAAGAAGTACACGTTCCAAACTATAAACGAGGGAATTGCCAGCTTGGATAAGGTGGATACGTTGATTTCCTGATACCAGCATGCCACGGGAGGGCTTCCTCCTTCCTGACTGTGGGGAACAGTTGTGAGGCTCCAAAGCGTTGGCTTATTGTTTGCTTTCCTTCAGCTCTGTGTAAGAACA
|
pathogenic
| 321,375 |
Considering the genetic mutation at chromosome 21, position 46366988, impacting PCNT (pericentrin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
CATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTCCCATGGGGTTCTGATCACTGCCATGGCCTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCTGTGGGGTTCTGTTCACTGCTGTGGGGTTCTATTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCCGTTCACTGCCACAGGGTTCTGTTCACTGCCGTGGGGTTCTATTCACTCACTGTCGTGGGGTTCTGTTCACTGCCATGGGGTTCTATTCATTCACTGCTGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCATGGGGTTCTAGTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTGCCTTGGGGTTCTATTCACTCACTGCCTTGGGGTTCTATTCACTGCCATGAGGTTCTATTCATTCACTGCCATGGGGTTCAATTCACTGCCATGGGGTTCTCAGGCCTCGCCCTCCCCATGGGCCCCCATGGGCAGTGCCCCTTCCCTGTTGAGGAGCAGAGATTACCTTGGGATTCTTGGTTGGATGCTGGCTCGGACGCTGTGGTGTGAGTAGGAGGTTGGTTGTGCCTGCCGTGCGTGGCTCTGGCGGGGATGTGTGTGTGCCATCTCTTGCTGAGGGCGCTGGTTCCTACCTGTGGTCTGTGACCTGGCGACTCCCATGGCTTTGGCCTTTGGCCTCTGGGCTTCTCTGGCTTCATGGGGCCTCTTCACTCTCCCACTTACTATTTCTGGTGGTCGAGGGAAAAGTAGTAAGAGCAGTTAAAATCCCGAAACGATGACCTGAACAGTTGAAGTGGCATTTCCTGTGGGAAACTGACTTGGCTTTTGCAAGGGTCATTGCTTCCTGATGCATGTTTAACTGTCCTGTGTTCACTTTGTTGCCGCAGGTTTTTAGAGGAACGTAAAGAGATCACCGAGAAATTCAGTGCGGAACAAGATGCCTTCCTGCAGGAGGCCCAGGAGCAGCATGCCCGTGAGCTGCAGCTCCTCCAGGAGAGACACCAGCAGCAGCTCCTGTCAGTGACGGCGGAGCTCGAGGCCAGACACCAGGCCGCGTTGGGCGAGCTGACAGCCTCCTTAGAGAGCAAGCAGGGGGCTCTGCTGGCTGCACGTGTGGCCGAACTGCAGACAAAACACGCTGCCGACCTCGGCGCTCTGGAGACCAGACATCTGTCCAGCCTTGATTCTTTGGAATCCTGTTACCTCTCTGAATTTCAGACCATCCGTGAGGAGCACAGGCAGGCCCTAGAGCTCTTACGAGCAGACTTTGAGGAACAACTGTGGAAAAAGGACTCTCTTCACCAAACGATTTTGACTCAAGAGTTGGAGAAACTGAAGCGGAAACACGAAGGGGAGCTACAGTCTGTGCGGGACCACCTGCGAACCGAAGTGAGCACAGAGCTCGCCGGAACCGTGGCTCACGAGCTGCAGGGAGTGCACCAGGTAAGGCGCCAGGGCCCTGCCCCAGCCCAGGGCAGGCCTCTCCTCGCTGCCTGTGTGTTTCCACCGCGTGTCACATGTCTGCGTGCGTGCTGTGTGTGCCTGTGCGGGTGTCTGTGTGTCTCACAGGCTGCCGAGATCAGTGGGGACTTCTGGTCTCTTTGTGAACTGGGCTTTTTTTTTTTTTTTTGAGCCGGAGTCTCACTCTTTCGCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCTGCCACCATGCGCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGCTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAGGCGATCCACCCGCCTTGACTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGAGCTGGGCTTTAAAACACTGAGTTGAAGGGTTATTTTGATCGCAGGCACCTTGTTAAAGGCTTTGCTCTCGTACGTATGTGGGAGGGCCTAGACCTTGGTGGGGGATTTTGTGGGCTTTGGAGTATTCCTCAAGGCTGACCAGCACCTCTGCAGAAGACTTGGTTTCCAGGCTGCTGTGGGAAGATCTGATGGTCATGTTGTGTATTCAGAGCCTTGGTCCCCTCCTTTTATTGATGTTTCCTGAAATAAAACCCTTTTGCTACATTTCAAGAGCAGTGATGGGCCAGGCACAATGGCTCACGTCTGTAATCACAGCAGTTTAGGAGGCTGAGGCAGTTGGATTACTTGAGCCCAGGAGTTTGAAACCAGCCTGTGGGCTACGAAAATTAAAAACAATTCACCGGGCGTGGGGGCACGCACCTGTAGTCTCAGCTACTTTGGAGGCTGAAGCAGGAGGATTGCTTGAGCCCAGGAAGTCGAGGCTGCAGGGTGAGCTAAGACTGTGCCACTGCACTCCAGCCTGGGCTGTAACAGAGTGAGACCCTGTCTCAAAAAAAAAACAAAAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGTGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATCCAAAAAAAAATTAGCTGGGGGTGGTGGCGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGAGCTTGCAGTGATCCGAGATCGCACCAGTGCACTCCAGCCTGGGAGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGCGGTGATGGTTCATTTGACAGGCACTTCCAAGTTTTTATCATGAAGAAGAATTTCTGGCGAAGTCCCTCTTGCCCTGGGCTGGCGCCTGACTGCAGAAGCTGCAGTGCCTGTGACTCAGGAAAGGACACGTGTTGTCGTATCACACACACCTTGTGCTTTCTCTGCCCTCAGTGAGGTCTCTGAGGTTTTCTCACCTTGAAATAGATGAGTCTGCTCTGTTGAGCATGTGGAGCCACTGGGGCTGGCCTATCTCCCTGCAGGAAGGGGATGCATAGGCCTGGCTGCACGGTGGATGGGGCATGGGCTAGAGCTGATGAGGCAGTTAGAAATGGTTGTTCTGGCAGATCAATACCTTGTCAGACGTTTAAGAAGTACACGTTCCAAACTATAAACGAGGGAATTGCCAGCTTGGATAAGGTGGATACGTTGATTTCCTGATACCAGCATGCCACGGGAGGGCTTCCTCCTTCCTGACTGTGGGGAACAGTTGTGAGGCTCCAAAGCGTTGGCTTATTGTTTGCTTTCCTTCAGCTCTGTGTAAGAACAGGAGAAAAGTGGAACCTTCTTTAATCGC
|
CATCCGTCCTGTGTCGCCAGTGCCCATTGGAGGCCTTGGCATTTTGCAGGACCCTCCAGCTCCAGGCTCTTTGGCCTCCTGATGGGAGCAGGTCCTTCTGTGAGGACTCTCCCTGCCTCTGTCTTTGGCCCTGAGTGCCGCCTGCACCTCCTTAATTCACTGCCACGGGGTTCTATTCACTTCCATGGGGTTCTATTCATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCCGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTATTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCGTGGGGTTCTGTTCACTCCCATGGGGTTCTGATCACTGCCATGGCCTTCTATTCACTGCCGTGGGGTTCTGATCACTGCCATGGGGTTCTATTCACTGCCATGGGGGTTCTATTCATTCACTGCCATGGGGTTCTCCTCACTGCTGTGGGGTTCTGTTCACTGCTGTGGGGTTCTATTCACTGCCGTGGGGTTCTATTCATTCACTCCCATGGAGTTCTGTTCACTCCCATAGGGTTCTATTCACTGCCATGGGGTTCTATTCACTGCCGTGGGGTTCCGTTCACTGCCACAGGGTTCTGTTCACTGCCGTGGGGTTCTATTCACTCACTGTCGTGGGGTTCTGTTCACTGCCATGGGGTTCTATTCATTCACTGCTGTGGGGTTCTATTCACTGCTGTGGGGTTCTGTTCACTGCCATGGGGTTCTAGTCACTGCCGTGGGGTTCTGTTCACTGCCGTGGGGTTCTATTCATTCACTGCCTTGGGGTTCTATTCACTCACTGCCTTGGGGTTCTATTCACTGCCATGAGGTTCTATTCATTCACTGCCATGGGGTTCAATTCACTGCCATGGGGTTCTCAGGCCTCGCCCTCCCCATGGGCCCCCATGGGCAGTGCCCCTTCCCTGTTGAGGAGCAGAGATTACCTTGGGATTCTTGGTTGGATGCTGGCTCGGACGCTGTGGTGTGAGTAGGAGGTTGGTTGTGCCTGCCGTGCGTGGCTCTGGCGGGGATGTGTGTGTGCCATCTCTTGCTGAGGGCGCTGGTTCCTACCTGTGGTCTGTGACCTGGCGACTCCCATGGCTTTGGCCTTTGGCCTCTGGGCTTCTCTGGCTTCATGGGGCCTCTTCACTCTCCCACTTACTATTTCTGGTGGTCGAGGGAAAAGTAGTAAGAGCAGTTAAAATCCCGAAACGATGACCTGAACAGTTGAAGTGGCATTTCCTGTGGGAAACTGACTTGGCTTTTGCAAGGGTCATTGCTTCCTGATGCATGTTTAACTGTCCTGTGTTCACTTTGTTGCCGCAGGTTTTTAGAGGAACGTAAAGAGATCACCGAGAAATTCAGTGCGGAACAAGATGCCTTCCTGCAGGAGGCCCAGGAGCAGCATGCCCGTGAGCTGCAGCTCCTCCAGGAGAGACACCAGCAGCAGCTCCTGTCAGTGACGGCGGAGCTCGAGGCCAGACACCAGGCCGCGTTGGGCGAGCTGACAGCCTCCTTAGAGAGCAAGCAGGGGGCTCTGCTGGCTGCACGTGTGGCCGAACTGCAGACAAAACACGCTGCCGACCTCGGCGCTCTGGAGACCAGACATCTGTCCAGCCTTGATTCTTTGGAATCCTGTTACCTCTCTGAATTTCAGACCATCCGTGAGGAGCACAGGCAGGCCCTAGAGCTCTTACGAGCAGACTTTGAGGAACAACTGTGGAAAAAGGACTCTTCACCAAACGATTTTGACTCAAGAGTTGGAGAAACTGAAGCGGAAACACGAAGGGGAGCTACAGTCTGTGCGGGACCACCTGCGAACCGAAGTGAGCACAGAGCTCGCCGGAACCGTGGCTCACGAGCTGCAGGGAGTGCACCAGGTAAGGCGCCAGGGCCCTGCCCCAGCCCAGGGCAGGCCTCTCCTCGCTGCCTGTGTGTTTCCACCGCGTGTCACATGTCTGCGTGCGTGCTGTGTGTGCCTGTGCGGGTGTCTGTGTGTCTCACAGGCTGCCGAGATCAGTGGGGACTTCTGGTCTCTTTGTGAACTGGGCTTTTTTTTTTTTTTTTGAGCCGGAGTCTCACTCTTTCGCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCTGCCACCATGCGCGGCTAATTTTTGTATTTTTAGTAGAGACTGGGCTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAGGCGATCCACCCGCCTTGACTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGAGCTGGGCTTTAAAACACTGAGTTGAAGGGTTATTTTGATCGCAGGCACCTTGTTAAAGGCTTTGCTCTCGTACGTATGTGGGAGGGCCTAGACCTTGGTGGGGGATTTTGTGGGCTTTGGAGTATTCCTCAAGGCTGACCAGCACCTCTGCAGAAGACTTGGTTTCCAGGCTGCTGTGGGAAGATCTGATGGTCATGTTGTGTATTCAGAGCCTTGGTCCCCTCCTTTTATTGATGTTTCCTGAAATAAAACCCTTTTGCTACATTTCAAGAGCAGTGATGGGCCAGGCACAATGGCTCACGTCTGTAATCACAGCAGTTTAGGAGGCTGAGGCAGTTGGATTACTTGAGCCCAGGAGTTTGAAACCAGCCTGTGGGCTACGAAAATTAAAAACAATTCACCGGGCGTGGGGGCACGCACCTGTAGTCTCAGCTACTTTGGAGGCTGAAGCAGGAGGATTGCTTGAGCCCAGGAAGTCGAGGCTGCAGGGTGAGCTAAGACTGTGCCACTGCACTCCAGCCTGGGCTGTAACAGAGTGAGACCCTGTCTCAAAAAAAAAACAAAAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGTGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATCCAAAAAAAAATTAGCTGGGGGTGGTGGCGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGCGGAGCTTGCAGTGATCCGAGATCGCACCAGTGCACTCCAGCCTGGGAGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAGCGGTGATGGTTCATTTGACAGGCACTTCCAAGTTTTTATCATGAAGAAGAATTTCTGGCGAAGTCCCTCTTGCCCTGGGCTGGCGCCTGACTGCAGAAGCTGCAGTGCCTGTGACTCAGGAAAGGACACGTGTTGTCGTATCACACACACCTTGTGCTTTCTCTGCCCTCAGTGAGGTCTCTGAGGTTTTCTCACCTTGAAATAGATGAGTCTGCTCTGTTGAGCATGTGGAGCCACTGGGGCTGGCCTATCTCCCTGCAGGAAGGGGATGCATAGGCCTGGCTGCACGGTGGATGGGGCATGGGCTAGAGCTGATGAGGCAGTTAGAAATGGTTGTTCTGGCAGATCAATACCTTGTCAGACGTTTAAGAAGTACACGTTCCAAACTATAAACGAGGGAATTGCCAGCTTGGATAAGGTGGATACGTTGATTTCCTGATACCAGCATGCCACGGGAGGGCTTCCTCCTTCCTGACTGTGGGGAACAGTTGTGAGGCTCCAAAGCGTTGGCTTATTGTTTGCTTTCCTTCAGCTCTGTGTAAGAACAGGAGAAAAGTGGAACCTTCTTTAATCGCNN
|
pathogenic
| 321,377 |
For chromosome 21, position 46385939, gene PCNT (pericentrin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGCAGCGGAAGCGCATTCACCATGTTGTATATTCAGTGATGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTACATTCAGTGACGGAAGAGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGTGGAAGCCCATTCACAGTGCTGTACATTCAGTGGCAGAAGTGCATTCGTGGTGTGCATTCAGGGGCGGAAGTGCATTCACGGTATTGTGCATAGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTGAGCGGCGGAAACACATTCATGGTGTTGTGCGTTGAGCGGCGGAAGCGCATTCACGGTGTTGTGCGTAGTTCAGTGGCGGAAGTGCATTCATGGTGTTGTGCGTTGAGCGGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGTGCATTCACAGTGTTGTGCATAGTTCAGTGGTGCAAGTGCATTCATGGTGTTGTGCGTAGTTCAGTGGTGCAGGCACATTCACGGTGTTGTACATTCGGTGATGGAATCACATTCACAGTATTGTGCAGCCATCACCACCATCCATCTCCAGAAGTCTTCATCTTGCAAAACTGAACTCTGTCCCCATTAGACTCTCACTCCCCATTTGCCCTCCCCTGGCACCATGGCTCACACCTTTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTCCAGCCCAGGAATTCGATACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTATAAAAAATTAAAAAAATTAGCCGTGTGTGGTGGCACGCACCTGTAGTCCCAGCTTCTCAGAAAGCTGAGGTGGGAGGATTGTTTGTGCCCTGGAGTTTGAGGCTACAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAGAAAGAAAGATCTTTGCCTGCCTGGCAACTGACTTTTGTGAATGACCAGATACAGTGACTTATTTCGAATTGCTGTTTGAGTGGTGGATCTCTGATGAACTGGCCCCTTCCCTCCCCTAGCCTCAGGTTCCACCTGGGGATGTTTGTGTATTCTTTTGTAAATGATGAATAATGGAGGAAAAACCGTATCAATAATTTTCACCTTTAATCAGCACCTCGTTCACCTTTGCCGTATTTTTATTAAATGTGCAGGTGCTCCTTGGCCTTTGCTGAGGTCACGCCTTTGACCACTGTCAGTGGAAGGCGTTGTGAGTCGAGGAACGTGCCGAAGTGCCTGCTCCTTTTGCCCCATCACCAAGCTGAAAAGTCCTAAGTCAGAGACTCTCAAATACTGAAATTGTGTTGAAAGTCCCTTACAGCCATTTGCTTTTAACCAAATTGTTTTAACGAAAGCTTTAACCATTTTTCTCGATAGCTGAAAGACCAGGTTTTATCCTTAAGTCACGAGATAGAAGAGTGCCGCTCCGAGTTGGAGGTGCTGCAGCAGAGGCGGGAGCGGGAGAACCGGGAAGGCGCAAACCTCCTCTCCATGCTCAAGGCCGACGTCAACCTGTCCCACAGCGAAAGGTCAGTGTGTCCTCGGCACCGAGGCTGCCTTGTGGCCGCCAGCACCCGCTGGGTCATGCAGATGCCATTGGTCCCCACGGCTCCTGGCCCCGTGGCTGCTGCCACCATGCACGCTGGCTCCTGGTGGACGGGGACCCGGCTTCCTTCTTCTCTCAGTTAGAAAGATTGTAAGCACCGGGAAGAAATCGCCTGCTGTGTCTCATCTCCCAGCCCCCGTGCCCTCCTCCCACCCTGCCTGCTGTGTCTCATTTCCCCATCTGGCCAGATTAAAACCAGCCGTTATCTCCCACACAGAGCCCGACCCCTCCCCTTTAGTGTCTGCGTCCCCGCAGCGTGTCCTCGTCCCCGGCACGGGGTGCAGGCCCACATGTCTCGTGGTTCCTGTGCTTTGGACTGTGTGCAAGTGTCGTGCCTCATGCATCTCTCTCTGTGACGTGTGTTTCTGAGACCGGCCCAAGCAGGGGCCGTAGCCCTGTCCGTTCCTTTCTCCATTGGGAGCCTGTGCCTGGGTAGCTGCAGGCACTGGGCTGAGCGCCCAGCCCCGAGGGCTCTCCCAGGGCGGGGTGTGGGTCTGCTTACCACGGGCCGTGGGGCCGCCTTCCCTGAACGCATGGGTCCAGGCCACATCCTGCCTTGGTGCCTCCTCACCTGCAGTGATGCTGTCCAGCAGGCTTGTCTGCCCTTTTGTCGCGTGTGGGGTCTTGAGAAACTTTTTGCTCCTCTGACACCATGGAGGTTTTTCCCAGGTCACCTCACAGGGTTTTAAGTTTTGCTTTTGTGTGACTCTGGGGTGAGCCTGCAGAGTTGTTCTTGCTTGCACCTGTCTGGGCAGTGGACTCGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCCCGTCTTTGTGTCCCCACTCGAGGCCTCTGGGTTGTGCTGCTGTGTCCTGAAGCTCTGAACTGGTTTGGCTCTGCTCTGGAGACCACCCAGGGTCCGGAGACCAGGTCGGGCTTATGGGACCCTCTGAGCTCACAGCTGTTTCTGGAGCATTGGTGTCTGTCATGCTGAGGGTCCATCCGTGTGTGGGGGGTGTCTGTGCAGGTCTCTCTTTGTTCTTTTCATCAAGTTTTGTGATTTTTCTGTGAGGACCTTGCCTTCTGTAGCACTTGGCTGTGGGTGTCTCGTAGCTTGGTGCTGACTCTCTCCAGTCACCCAGGTCAGTGGGCGAGCGAGAGCTCTAAACCGAGGGGCACAGCGGCCAGTGGGGCGGTCTGTGCTCTTAACTCGAGGGGTGCAGAGGTGGGTGGTGGGCGGGGTAGTCCCAGGCTCTAAACACAAGGGGTGCAGAGGTGAGCCCACGGTCCCTGGACACTGGAGAGGCTGCCTGTCTTGAGGTGGGGTGGCTGCAGACGCCCTGATGCCTGCAGGAGTTGGGCATTTTGGGGGGTGGAAGTGTGCTGGGGAGCAGGTGGCATTCTCTCCGTCAAGCCCCTCCTCAGGACTCCCCCTCCCTGTTATTTGCCCAGAATCTTCGGTTTCGCGGGGCCTGCACGACACTGCCTCCCGTTGTCACCTCACGGTCCCCACGAATGAGTCCTCATCGTCTGCTCCTCAGGGTTGGGCTCTCTGGGGACAGAGCTGTGAGCAGAGTAGAGGGAGGGCTGGCTGTGTAGTCACTGGGTCAACGTGCCTGTCCTCAGCGGCGTCACAGCTCCTAAATCATAGTGCAGGGAGCGAGATGTGGAGGGGCCTGTGGCCTCGGGAGCCCCTGTGTGTAAAAACAGAAGCATCCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTG
|
TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGCAGCGGAAGCGCATTCACCATGTTGTATATTCAGTGATGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTACATTCAGTGACGGAAGAGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGTGGAAGCCCATTCACAGTGCTGTACATTCAGTGGCAGAAGTGCATTCGTGGTGTGCATTCAGGGGCGGAAGTGCATTCACGGTATTGTGCATAGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTGAGCGGCGGAAACACATTCATGGTGTTGTGCGTTGAGCGGCGGAAGCGCATTCACGGTGTTGTGCGTAGTTCAGTGGCGGAAGTGCATTCATGGTGTTGTGCGTTGAGCGGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGTGCATTCACAGTGTTGTGCATAGTTCAGTGGTGCAAGTGCATTCATGGTGTTGTGCGTAGTTCAGTGGTGCAGGCACATTCACGGTGTTGTACATTCGGTGATGGAATCACATTCACAGTATTGTGCAGCCATCACCACCATCCATCTCCAGAAGTCTTCATCTTGCAAAACTGAACTCTGTCCCCATTAGACTCTCACTCCCCATTTGCCCTCCCCTGGCACCATGGCTCACACCTTTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTCCAGCCCAGGAATTCGATACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTATAAAAAATTAAAAAAATTAGCCGTGTGTGGTGGCACGCACCTGTAGTCCCAGCTTCTCAGAAAGCTGAGGTGGGAGGATTGTTTGTGCCCTGGAGTTTGAGGCTACAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAGAAAGAAAGATCTTTGCCTGCCTGGCAACTGACTTTTGTGAATGACCAGATACAGTGACTTATTTCGAATTGCTGTTTGAGTGGTGGATCTCTGATGAACTGGCCCCTTCCCTCCCCTAGCCTCAGGTTCCACCTGGGGATGTTTGTGTATTCTTTTGTAAATGATGAATAATGGAGGAAAAACCGTATCAATAATTTTCACCTTTAATCAGCACCTCGTTCACCTTTGCCGTATTTTTATTAAATGTGCAGGTGCTCCTTGGCCTTTGCTGAGGTCACGCCTTTGACCACTGTCAGTGGAAGGCGTTGTGAGTCGAGGAACGTGCCGAAGTGCCTGCTCCTTTTGCCCCATCACCAAGCTGAAAAGTCCTAAGTCAGAGACTCTCAAATACTGAAATTGTGTTGAAAGTCCCTTACAGCCATTTGCTTTTAACCAAATTGTTTTAACGAAAGCTTTAACCATTTTTCTCGATAGCTGAAAGACCAGGTTTTATCCTTAAGTCACGAGATAGAAGAGTGCCGCTCCGAGTTGGAGGTGCTGCAGCAGAGGCGGGAGCGGGAGAACCGGGAAGGCGCAAACCTCCTCCATGCTCAAGGCCGACGTCAACCTGTCCCACAGCGAAAGGTCAGTGTGTCCTCGGCACCGAGGCTGCCTTGTGGCCGCCAGCACCCGCTGGGTCATGCAGATGCCATTGGTCCCCACGGCTCCTGGCCCCGTGGCTGCTGCCACCATGCACGCTGGCTCCTGGTGGACGGGGACCCGGCTTCCTTCTTCTCTCAGTTAGAAAGATTGTAAGCACCGGGAAGAAATCGCCTGCTGTGTCTCATCTCCCAGCCCCCGTGCCCTCCTCCCACCCTGCCTGCTGTGTCTCATTTCCCCATCTGGCCAGATTAAAACCAGCCGTTATCTCCCACACAGAGCCCGACCCCTCCCCTTTAGTGTCTGCGTCCCCGCAGCGTGTCCTCGTCCCCGGCACGGGGTGCAGGCCCACATGTCTCGTGGTTCCTGTGCTTTGGACTGTGTGCAAGTGTCGTGCCTCATGCATCTCTCTCTGTGACGTGTGTTTCTGAGACCGGCCCAAGCAGGGGCCGTAGCCCTGTCCGTTCCTTTCTCCATTGGGAGCCTGTGCCTGGGTAGCTGCAGGCACTGGGCTGAGCGCCCAGCCCCGAGGGCTCTCCCAGGGCGGGGTGTGGGTCTGCTTACCACGGGCCGTGGGGCCGCCTTCCCTGAACGCATGGGTCCAGGCCACATCCTGCCTTGGTGCCTCCTCACCTGCAGTGATGCTGTCCAGCAGGCTTGTCTGCCCTTTTGTCGCGTGTGGGGTCTTGAGAAACTTTTTGCTCCTCTGACACCATGGAGGTTTTTCCCAGGTCACCTCACAGGGTTTTAAGTTTTGCTTTTGTGTGACTCTGGGGTGAGCCTGCAGAGTTGTTCTTGCTTGCACCTGTCTGGGCAGTGGACTCGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCCCGTCTTTGTGTCCCCACTCGAGGCCTCTGGGTTGTGCTGCTGTGTCCTGAAGCTCTGAACTGGTTTGGCTCTGCTCTGGAGACCACCCAGGGTCCGGAGACCAGGTCGGGCTTATGGGACCCTCTGAGCTCACAGCTGTTTCTGGAGCATTGGTGTCTGTCATGCTGAGGGTCCATCCGTGTGTGGGGGGTGTCTGTGCAGGTCTCTCTTTGTTCTTTTCATCAAGTTTTGTGATTTTTCTGTGAGGACCTTGCCTTCTGTAGCACTTGGCTGTGGGTGTCTCGTAGCTTGGTGCTGACTCTCTCCAGTCACCCAGGTCAGTGGGCGAGCGAGAGCTCTAAACCGAGGGGCACAGCGGCCAGTGGGGCGGTCTGTGCTCTTAACTCGAGGGGTGCAGAGGTGGGTGGTGGGCGGGGTAGTCCCAGGCTCTAAACACAAGGGGTGCAGAGGTGAGCCCACGGTCCCTGGACACTGGAGAGGCTGCCTGTCTTGAGGTGGGGTGGCTGCAGACGCCCTGATGCCTGCAGGAGTTGGGCATTTTGGGGGGTGGAAGTGTGCTGGGGAGCAGGTGGCATTCTCTCCGTCAAGCCCCTCCTCAGGACTCCCCCTCCCTGTTATTTGCCCAGAATCTTCGGTTTCGCGGGGCCTGCACGACACTGCCTCCCGTTGTCACCTCACGGTCCCCACGAATGAGTCCTCATCGTCTGCTCCTCAGGGTTGGGCTCTCTGGGGACAGAGCTGTGAGCAGAGTAGAGGGAGGGCTGGCTGTGTAGTCACTGGGTCAACGTGCCTGTCCTCAGCGGCGTCACAGCTCCTAAATCATAGTGCAGGGAGCGAGATGTGGAGGGGCCTGTGGCCTCGGGAGCCCCTGTGTGTAAAAACAGAAGCATCCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGNN
|
pathogenic
| 321,394 |
Evaluate if the mutation on chromosome 21 at position 46388870 in PCNT (pericentrin) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Inborn_genetic_diseases', 'Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
CGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCCCGTCTTTGTGTCCCCACTCGAGGCCTCTGGGTTGTGCTGCTGTGTCCTGAAGCTCTGAACTGGTTTGGCTCTGCTCTGGAGACCACCCAGGGTCCGGAGACCAGGTCGGGCTTATGGGACCCTCTGAGCTCACAGCTGTTTCTGGAGCATTGGTGTCTGTCATGCTGAGGGTCCATCCGTGTGTGGGGGGTGTCTGTGCAGGTCTCTCTTTGTTCTTTTCATCAAGTTTTGTGATTTTTCTGTGAGGACCTTGCCTTCTGTAGCACTTGGCTGTGGGTGTCTCGTAGCTTGGTGCTGACTCTCTCCAGTCACCCAGGTCAGTGGGCGAGCGAGAGCTCTAAACCGAGGGGCACAGCGGCCAGTGGGGCGGTCTGTGCTCTTAACTCGAGGGGTGCAGAGGTGGGTGGTGGGCGGGGTAGTCCCAGGCTCTAAACACAAGGGGTGCAGAGGTGAGCCCACGGTCCCTGGACACTGGAGAGGCTGCCTGTCTTGAGGTGGGGTGGCTGCAGACGCCCTGATGCCTGCAGGAGTTGGGCATTTTGGGGGGTGGAAGTGTGCTGGGGAGCAGGTGGCATTCTCTCCGTCAAGCCCCTCCTCAGGACTCCCCCTCCCTGTTATTTGCCCAGAATCTTCGGTTTCGCGGGGCCTGCACGACACTGCCTCCCGTTGTCACCTCACGGTCCCCACGAATGAGTCCTCATCGTCTGCTCCTCAGGGTTGGGCTCTCTGGGGACAGAGCTGTGAGCAGAGTAGAGGGAGGGCTGGCTGTGTAGTCACTGGGTCAACGTGCCTGTCCTCAGCGGCGTCACAGCTCCTAAATCATAGTGCAGGGAGCGAGATGTGGAGGGGCCTGTGGCCTCGGGAGCCCCTGTGTGTAAAAACAGAAGCATCCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACAGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAAGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGACAGAAGCATCCCAGACCGCACGTCCACGAGGCCTAGCGAGAGGCTGGGAGACACCATCCTCTTCCTGCCACACAACTCCTGTGAATGTGTGGCTGAGGCGTGACTTGGTGTTGGACAGACATCTTGTGAAATGGCTGGCTGGTGCACCCTGTGCTCCAGGGGAGGGGCGGAGCCTGTGTGCTGCTCCCGGGTGATTGACGCTGTGCGGCCACATCGCACACCTGCGGGACGGGTTTGCCGTGTTCCTAATGTGATGCCTTTTACACATCAGAAATGGCATCAGGAAGACCTCACCTAGGAAAGCCCGTGTCCCTGAGTGGGCTCCACGTGGTTGTCTTGTCTGTGGCCTCAGCTTCCTGTGCTCACATGGGCATGAGGATCATGTCTTCCGGCCCCGTGGGGACAGGCAGCCGTGGGCCGAGGTGTGCAAACTGGTGGGCGGCCCCTCAGCAGCATCCAGGGTGGGGGTTCTTATGCCGTGACCAGCTTGCCTGATGATGGGTGTCTCCTGTCTCAGAGGGGCCCTCCAGGACGCCCTGCGCAGGCTGCTGGGTTTGTTTGGAGAGACGCTGAGGGCAGCCGTCACCCTGAGGAGCCGGATCGGGGAGCGCGTGGGGCTCTGCCTGGATGACGCGGGCGCAGGCCTGGCCCTGTCGACAGGTGAGTGTGCCGGGACCAGCTGCCCAGCCCTGTGCTTGCAGCCCCTCTGTGGTCCTGGAGCTCTCTGAGAGGAGCCTCCGTATTGGGCGATGCCCTTGGGAGCACTGCCGTCCTGGTTTCCTGCTAGTTTCCGCACTTACAGAAGGCCGAGACCGGGGTTTGGGCTAAATTTGTCAGCTCCCGTGGACGTGGCGCTGACTCATCTCGGCTGGGGCGACGTTCTGAGTTCTGTGGCTTCCTTGTCGTCTTGGCTGCCATGGCCGCGGCCGGCTTGCTCACTGAGCCGCGTGTGCCGGCATCTGCTCATCTTGTAGCTCCGGCGCTGGAGGAGACATGGTCTGATGTGGCCCTCCCGGAGTTGGACAGAACTTTGTCTGAATGTGCAGAGATGTCTTCCGTGGCTGAAATTAGCAGCCACATGCGTGAAAGCTTTCTCATGAGCCCAGAAAGTGTGCGGGAGTGTGAGCAGCCCATCCGGAGGGTCTTCCAGAGCCTCAGCCTGGCCGTGGACGGCCTCATGGAGATGGCCCTGGACTCCAGCAGGCAGGTGAGGCCCAGGCTCCCGGGGTCCTGTGGAGATGTGAACAACTGAGTAGCTGATGATGCCACACGAGCCTGGTGGATGCCGGTGCCAACGACGCTCGCACGGGTTTCTCCCCAAGGAGGAGGCTTTTCTGAACCAGATCTTTGAGGAAGTGGGCTTGCTACGAATGAGAGAATCTGTTTGTTTAATTTGGATAATAAACAGGCCCATTTTCTTTACTTCATGCACTGTTGCAATTCCATGTGGAGTGTTTTCATATTTAGAGATTATCACTAAGAAAGGAAATTTTTTGTAACCGTTTTAGAACATTTTAGACAATTAAAAAAGACATTAAGTAGGAATACACGGAAAGCAATCAAAGATCTTTTTTTCAGCCAGGCACAGCGGCTCACTCCTGCAGTCCCAGCACTTTGGGAGGCTAAGGTAGGAGGTTCACTTCAGCCTACTTCAGCCCACGAGCTCATCTTGTAGCTCTGGCGCTGGAGGAGATGTGGTCTGATGTGGCCCTCCCGGAGTTGGACAGAACTTTGTCTGAATGTGCAGAGATGTCTTCCGTGGCTGAAATTAGCAGCCACATGTGTGAAAGCTTTCTCATGAGCCCAGAAAGTGTACGGGAGTGTGAGCAACCCATCCGGAGGGTCTTCCAGAGCCTCAGCCTGGCCGTGGACGGCCTCATGGAGATGGCCCTGGACTCCAGCAGCCAGCCTGGGCAACATAGCGAGACCTCATTTTAAGTTAGCCAGGCGTGGTGGCATGCGTCTGCGGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGGATTGCTTGATCCTGGGAGGCTGAGGCTGCCGTGAGTTGTGGTTGCACCACTGCACTCCAGCCTGGGTGCAGAGCAAGACCCTATCTCAAAAATGAAAATAAAAATTCTTTTTTGCTAAGTTTTGAGTTCAGAGGTAACTCTGGGTCTCAGCCTGTAGATGGCCTGGGAGCCCCAGACTGGACACAGTTGCCAGGGGAGTGTCTGGAGGAAGGGAGAGGGGCCCAGGGCTGAACTGGGAGGCTGAGGAGGGGTCCTCATTGGAGACTGTGGCCACAGTGTCTCGGAGGGTGGCTGAGATGTGCTCAGGTCCCGTCACCCTGGCCTGGCCCTGCCTGGGTGGTGACGGCCTGAAGGGTCTGGGGGTAGAAGTGGCGTTCTCTTGGTCTTAATGTAGGCTTCAGTTATTTTTGATCTGGAGTTTTGATTTGCAAATGTGTTTTAACAGCTGGAAGAAGCACGCCAAATTCATTCTCGTTTTGAAAAAGAATTTAGTTTTAAGAATGAGGAGACAGCACAGGTTGTCAGGAAGCACCAGGAGCTGCTGGAGTGTTTGAAGGAGGAGAGCGCAGCAAAGGCAGAGCTGGCGCTGGAGCTGCACAAGACTCAGGGTGAGCAGCATGAGGCCTCGGGGCACCTGGAGCACAGGCACGGGGAGCAGGCCTGGCCTCACTGAGGGAAGGAAGCCTTCAGAAT
|
CGGCACTGTGTTGCCAAACGCAGCCTCCCCTTGGTGCGCGTCCTCCCCGTCCCCTTGTGTGGGTCTTTGGCTGCTCCCATTGGCGTGTCCCCGCCCGAGGCCTCTGTGTCCTGCTGCTGCTCCCATCTGTGTGTCCCCGCTGAGGCTTCTGGGTCCAGCCACTGCTCCCGTCTGTCTGTCCCCGCCCCAGGCCTCTGAGTCCTGCTGCTGCTCCCGTCTTTGTGTCCCCACTCGAGGCCTCTGGGTTGTGCTGCTGTGTCCTGAAGCTCTGAACTGGTTTGGCTCTGCTCTGGAGACCACCCAGGGTCCGGAGACCAGGTCGGGCTTATGGGACCCTCTGAGCTCACAGCTGTTTCTGGAGCATTGGTGTCTGTCATGCTGAGGGTCCATCCGTGTGTGGGGGGTGTCTGTGCAGGTCTCTCTTTGTTCTTTTCATCAAGTTTTGTGATTTTTCTGTGAGGACCTTGCCTTCTGTAGCACTTGGCTGTGGGTGTCTCGTAGCTTGGTGCTGACTCTCTCCAGTCACCCAGGTCAGTGGGCGAGCGAGAGCTCTAAACCGAGGGGCACAGCGGCCAGTGGGGCGGTCTGTGCTCTTAACTCGAGGGGTGCAGAGGTGGGTGGTGGGCGGGGTAGTCCCAGGCTCTAAACACAAGGGGTGCAGAGGTGAGCCCACGGTCCCTGGACACTGGAGAGGCTGCCTGTCTTGAGGTGGGGTGGCTGCAGACGCCCTGATGCCTGCAGGAGTTGGGCATTTTGGGGGGTGGAAGTGTGCTGGGGAGCAGGTGGCATTCTCTCCGTCAAGCCCCTCCTCAGGACTCCCCCTCCCTGTTATTTGCCCAGAATCTTCGGTTTCGCGGGGCCTGCACGACACTGCCTCCCGTTGTCACCTCACGGTCCCCACGAATGAGTCCTCATCGTCTGCTCCTCAGGGTTGGGCTCTCTGGGGACAGAGCTGTGAGCAGAGTAGAGGGAGGGCTGGCTGTGTAGTCACTGGGTCAACGTGCCTGTCCTCAGCGGCGTCACAGCTCCTAAATCATAGTGCAGGGAGCGAGATGTGGAGGGGCCTGTGGCCTCGGGAGCCCCTGTGTGTAAAAACAGAAGCATCCCAGCCGGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACAGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAAGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAGACAGAAGCATCCCAGACCGCACGTCCACGAGGCCTAGCGAGAGGCTGGGAGACACCATCCTCTTCCTGCCACACAACTCCTGTGAATGTGTGGCTGAGGCGTGACTTGGTGTTGGACAGACATCTTGTGAAATGGCTGGCTGGTGCACCCTGTGCTCCAGGGGAGGGGCGGAGCCTGTGTGCTGCTCCCGGGTGATTGACGCTGTGCGGCCACATCGCACACCTGCGGGACGGGTTTGCCGTGTTCCTAATGTGATGCCTTTTACACATCAGAAATGGCATCAGGAAGACCTCACCTAGGAAAGCCCGTGTCCCTGAGTGGGCTCCACGTGGTTGTCTTGTCTGTGGCCTCAGCTTCCTGTGCTCACATGGGCATGAGGATCATGTCTTCCGGCCCCGTGGGGACAGGCAGCCGTGGGCCGAGGTGTGCAAACTGGTGGGCGGCCCCTCAGCAGCATCCAGGGTGGGGGTTCTTATGCCGTGACCAGCTTGCCTGATGATGGGTGTCTCCTGTCTCAGAGGGGCCCTCCAGGACGCCCTGCGCAGGCTGCTGGGTTTGTTTGGAGAGACGCTGAGGGCAGCCGTCACCCTGAGGAGCCGGATCGGGGAGCGCGTGGGGCTCTGCCTGGATGACGCGGGCGCAGGCCTGGCCCGGCCCTGTCGACAGGTGAGTGTGCCGGGACCAGCTGCCCAGCCCTGTGCTTGCAGCCCCTCTGTGGTCCTGGAGCTCTCTGAGAGGAGCCTCCGTATTGGGCGATGCCCTTGGGAGCACTGCCGTCCTGGTTTCCTGCTAGTTTCCGCACTTACAGAAGGCCGAGACCGGGGTTTGGGCTAAATTTGTCAGCTCCCGTGGACGTGGCGCTGACTCATCTCGGCTGGGGCGACGTTCTGAGTTCTGTGGCTTCCTTGTCGTCTTGGCTGCCATGGCCGCGGCCGGCTTGCTCACTGAGCCGCGTGTGCCGGCATCTGCTCATCTTGTAGCTCCGGCGCTGGAGGAGACATGGTCTGATGTGGCCCTCCCGGAGTTGGACAGAACTTTGTCTGAATGTGCAGAGATGTCTTCCGTGGCTGAAATTAGCAGCCACATGCGTGAAAGCTTTCTCATGAGCCCAGAAAGTGTGCGGGAGTGTGAGCAGCCCATCCGGAGGGTCTTCCAGAGCCTCAGCCTGGCCGTGGACGGCCTCATGGAGATGGCCCTGGACTCCAGCAGGCAGGTGAGGCCCAGGCTCCCGGGGTCCTGTGGAGATGTGAACAACTGAGTAGCTGATGATGCCACACGAGCCTGGTGGATGCCGGTGCCAACGACGCTCGCACGGGTTTCTCCCCAAGGAGGAGGCTTTTCTGAACCAGATCTTTGAGGAAGTGGGCTTGCTACGAATGAGAGAATCTGTTTGTTTAATTTGGATAATAAACAGGCCCATTTTCTTTACTTCATGCACTGTTGCAATTCCATGTGGAGTGTTTTCATATTTAGAGATTATCACTAAGAAAGGAAATTTTTTGTAACCGTTTTAGAACATTTTAGACAATTAAAAAAGACATTAAGTAGGAATACACGGAAAGCAATCAAAGATCTTTTTTTCAGCCAGGCACAGCGGCTCACTCCTGCAGTCCCAGCACTTTGGGAGGCTAAGGTAGGAGGTTCACTTCAGCCTACTTCAGCCCACGAGCTCATCTTGTAGCTCTGGCGCTGGAGGAGATGTGGTCTGATGTGGCCCTCCCGGAGTTGGACAGAACTTTGTCTGAATGTGCAGAGATGTCTTCCGTGGCTGAAATTAGCAGCCACATGTGTGAAAGCTTTCTCATGAGCCCAGAAAGTGTACGGGAGTGTGAGCAACCCATCCGGAGGGTCTTCCAGAGCCTCAGCCTGGCCGTGGACGGCCTCATGGAGATGGCCCTGGACTCCAGCAGCCAGCCTGGGCAACATAGCGAGACCTCATTTTAAGTTAGCCAGGCGTGGTGGCATGCGTCTGCGGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGGATTGCTTGATCCTGGGAGGCTGAGGCTGCCGTGAGTTGTGGTTGCACCACTGCACTCCAGCCTGGGTGCAGAGCAAGACCCTATCTCAAAAATGAAAATAAAAATTCTTTTTTGCTAAGTTTTGAGTTCAGAGGTAACTCTGGGTCTCAGCCTGTAGATGGCCTGGGAGCCCCAGACTGGACACAGTTGCCAGGGGAGTGTCTGGAGGAAGGGAGAGGGGCCCAGGGCTGAACTGGGAGGCTGAGGAGGGGTCCTCATTGGAGACTGTGGCCACAGTGTCTCGGAGGGTGGCTGAGATGTGCTCAGGTCCCGTCACCCTGGCCTGGCCCTGCCTGGGTGGTGACGGCCTGAAGGGTCTGGGGGTAGAAGTGGCGTTCTCTTGGTCTTAATGTAGGCTTCAGTTATTTTTGATCTGGAGTTTTGATTTGCAAATGTGTTTTAACAGCTGGAAGAAGCACGCCAAATTCATTCTCGTTTTGAAAAAGAATTTAGTTTTAAGAATGAGGAGACAGCACAGGTTGTCAGGAAGCACCAGGAGCTGCTGGAGTGTTTGAAGGAGGAGAGCGCAGCAAAGGCAGAGCTGGCGCTGGAGCTGCACAAGACTCAGGGTGAGCAGCATGAGGCCTCGGGGCACCTGGAGCACAGGCACGGGGAGCAGGCCTGGCCTCACTGAGGGAAGGAAGCCTTC
|
pathogenic
| 321,401 |
Gene PCNT (pericentrin) variant at chromosome position 46411793 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II', 'PCNT-related_disorder']
|
GCCCACGCCCGGCTAATTTTTGTATTTTTACTAGAGACCAGGGTGCACCGTGTCGGCCAGGCTGATCTTGAACTCCTGTGCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGACGTGAGCCACCGCGCCCGGCCTCAGTTCACTGATTTCAGGTTTTGGTGTTTTACATTTAGAGCTACCTTCGTATGCTGGCTCCAGTATTTTAACGTGATATATGCGTTGTGATTATGACCGTCTTCAGTGCGCACCCCTTGATTCCAGTTTATTTAGTGCATTTAGGGAATGAGCAGAAGCTGCGTATAATCAGAATTGTCCTCGAAATTCCTTCGCGTGCCTGTAGAGTACAGAGACAACGGCCGGTGCCGCACACAGTAAGGCACGCGACGGGGAGCAGAATGTGCAGCGGGCATTCCTAGCCCGCAGCTGGGAGGCTGCTTTTGCTAAATGCATGGTGTTGTTCATCGGTGGTAAATGCATAGGAAGGTGTTGTTGACAGCGTCCAAACCAAAGCCACAGGTTCATCCGGTTCCTTTGTTTTTTTTCTGTAGGCCAGATTTGCATTTGAGTCCAGAGTAATTGTGAGGTAGTTCCAGAGAAACCTGGAGTTGTTATGAAACCCTCAGTTTTTTGGAAGAACATATTAGTCTATAACAAATAGTTTTAAAATTGTTAGAGCACAAATGGATTAGAATTTTTCTATTTTTTGTCATTACCAGGAATGTTATCTTAAGAGAATAGAGTTTGGAGCTATATTGACATACATCTCAATCCTAATTTTCCACTTACTGTTTTTATGGGTTTAGAAAGATGTTTAATATCTCAGTTTCAATTTTCCTGTCTTTAAAGTGGAAACAATCGTATTTCCTTACATGGCTGAGGATTATGTTTCATGGCACAAGTAAACTCACTTCGATGCCTGGTGTCACCGAGTGGCAGTGGCAGAGACGCCTCATCACCAGCGTCACCACGAGCAGTGTTGGGATGGAAGGGGAGCGTGCCCGGCTCACCGCTTTGTTGGTGCAGATTCTCTGCCTAGGTTTCTTACTTTCCTCCTGGAGTCAGAATGACACCTAAAATCTAATGCACCTTCAGGAAAATCAAACAAATCAAAGTTGTTTAAATATTAACAAAATAACATTTAAAGGGTGGTGAAAGCATCATTCTGTAGATGTCCTTGCATGGAAAATGACTGCATTAGAGCTTCGTCCCACGATCAGACGTGGAGCACAAGGTGTGCACCAGGGCCCAGTGGCAGCCAAGGTGGGTGTGGAGTGCATCCGGCACCAGCAGTTTGCTTCTATGGCTGCTTTGTTTTTCACGCTATGGAGTCTTCACTCCAAGAATGCATTCAGGATGTAACGTGCCCTGAAGTAGGGACATTCGGAAGTGGATACATTTAATTTGCCTCTGAAATGTCCTCTCTCTTCAGGTCATATATACCAGAAGTTCTGAGATTGAAGAGCTGAAAGCCACTATTGAAAATCTGCAAGAGAATCAGAAACGATTACAAAAGGAGAAAGCAGAGGAAATTGAACAACTCCATGAAGTCATTGAGAAGCTGCAGCACGAGCTGTCCCTCATGGGGCCTGTGGTGCACGAAGTCAGCGACAGTCAGGCTGGCAGTCTGCAGAGCGAGCTGCTCTGCTCCCAGGCCGGGGGCCCTCGTGGGCAGGCCCTACAGGGCGAGCTCGAGGCTGCGCTGGAAGCCAAGGAGGCCCTGAGCCGGCTGCTGGCTGACCAGGAGCGCAGGCACAGCCAGGCCCTGGAGGCCCTGCAGCAGCGCCTCCAGGGCGCAGAGGAGGCTGCGGAGCTACAGCTGGCTGAGCTGGAGCGCAATGTAGCCCTCAGGGAGGCTGAGGTCGAAGACATGGCCTCCCGGATCCAGGAGTTCGAAGCGGCCCTGAAAGCAAAGGAAGCGACGATTGCCGAGAGAAATTTAGAAATCGACGCTCTGAACCAGCGGAAGGCGGCCCACTCTGCCGAGCTGGAGGCCGTCCTGTTGGCCTTGGCCCGCATCCGCCGCGCCCTGGAGCAGCAGCCCCTGGCAGCCGGGGCGGCGCCTCCCGAGCTGCAGTGGCTCCGAGCGCAGTGTGCCCGCCTCAGCCGCCAGCTGCAGGTGCTGCACCAGCGGTTCCTGAGGTGCCAGGTGGAGCTGGACAGGCGGCAGGCCCGCAGAGCCACAGCTCACACACGGGTGCCCGGGGCCCACCCACAGCCTCGCATGGATGGTGGCGCCAAGGCCCAGGTCACCGGCGACGTGGAGGCCTCCCATGATGCTGCTTTGGAGCCGGTTGTCCCTGACCCACAGGTGGGCTCCCCCCGCGGGCCATGGCAGGGTATTTTTTTTTACTCTCCTTTTCTCCTTTGATGTCAATGACTTCTCTCTGCGCTGGGCACTGGGGGCTGCAGTTGTCATGGTGGCTCATGACACAGCGGAGAAAGGGGGCCTGAAGCTCGGGCCAGCCTGGGCCTGTTCCGTGTCAGTACGCAGTGAAGCTGGGCTGAGGATTTCACTGTTTTGTACCATTTTAAGCTTATCGTTTTAAGCTTTTAAAAACAATTCTTTCTTTCACATAATAGGGACTGTCCAGTGAAACGGAGCTCACTATGTGAGGAGGGTCCGCTTAAGCTGCTTCTCTGGTTTCTAACCAAATGGTTTGTCTGTCGATGAGCAGTGCCTGTGTGAGATGTGGCGAGCGAGCTCTTCTTTTGGAGCTGGAGGCCCTGTAGGGAGTCGTCTTTTAAGGCTTCCACTTGTATTTGAGCAGAACCTTGGGAACTTGGTGCCTACCACCCCCACACCAGCTGGGTCTTTGTAGAGTGGCTCCCACTCTCAGATGCCCCAGTCCACCTTGCTCTGTGGGGTCGTCCTGGGTCGGGGCAGCTTTCTGCTGGGTCCTCAGCCCCGTTCCCATGTGGCCTGCTGTGGACCAAGGTGCTCGGCTGTGGATGTCACTGCCACCTCCCTCTGGCATCCCTGCTGGCTGCCGTACTGGTTCCCAGCTCCAGGCCACCTGAGGGGCAGCCCCAGCAACAGCCTCCTGCATGCTCAGCTTTCCTCTGTCTCCTCTGTCAAGGGTGATCTGCAGCCTGTCCTGGTGACGTTGAAGGATGCACCTCTCTGCAAGCAAGAAGGCGTGATGTCAGTGCTCACCGTCTGCCAGAGGCAGCTGCAGTCGGAGCTGCTCTTGGTGAAAAATGAAATGCGCCTGAGTCTGGAGGACGGCGGCAAGGTGTGGGGAGGGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAACGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGGGGGGAAGGCGTGAGGCCCCCCTGGGAGAGGCTGGGTGCAGAACATGTGGGTCTTGCCCTGGGCAGAGGCGGGTATTCTGCTGAGGTGAGGAGCACAGTCCGTGCCTGCAGTGACATGTTCTCTGAATCCTTTCTGTTCTGTAACGAGCTGTCCATAACTGTTGTGAAATTTCGTACGTGCTTCATTTAAGCCACTCTGTAGAAACAATCAGTTGGGTTTTTTTCTTGTAATTGATCCAAATGGATTTAACTGTGCTCGAGGGTTAGTCCTGGTTTGTCTTTTCATGGGAGGACCACATCGCCCCCGTGGGCCTCACCTCAGCTCAGGACTTTGATGGCCAGCGTCTGTTTTACTTTGAAAGGCCTCAGATTTATTCTTGTAATCTGTTCACCTCACTCCATATTGTCACTTGAAAAAAAGCTGGCACTTCTTTTCCCCGGGGAAGGAGGTTGCACCTTGACCATCTCAAATTGTAGCA
|
GCCCACGCCCGGCTAATTTTTGTATTTTTACTAGAGACCAGGGTGCACCGTGTCGGCCAGGCTGATCTTGAACTCCTGTGCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGACGTGAGCCACCGCGCCCGGCCTCAGTTCACTGATTTCAGGTTTTGGTGTTTTACATTTAGAGCTACCTTCGTATGCTGGCTCCAGTATTTTAACGTGATATATGCGTTGTGATTATGACCGTCTTCAGTGCGCACCCCTTGATTCCAGTTTATTTAGTGCATTTAGGGAATGAGCAGAAGCTGCGTATAATCAGAATTGTCCTCGAAATTCCTTCGCGTGCCTGTAGAGTACAGAGACAACGGCCGGTGCCGCACACAGTAAGGCACGCGACGGGGAGCAGAATGTGCAGCGGGCATTCCTAGCCCGCAGCTGGGAGGCTGCTTTTGCTAAATGCATGGTGTTGTTCATCGGTGGTAAATGCATAGGAAGGTGTTGTTGACAGCGTCCAAACCAAAGCCACAGGTTCATCCGGTTCCTTTGTTTTTTTTCTGTAGGCCAGATTTGCATTTGAGTCCAGAGTAATTGTGAGGTAGTTCCAGAGAAACCTGGAGTTGTTATGAAACCCTCAGTTTTTTGGAAGAACATATTAGTCTATAACAAATAGTTTTAAAATTGTTAGAGCACAAATGGATTAGAATTTTTCTATTTTTTGTCATTACCAGGAATGTTATCTTAAGAGAATAGAGTTTGGAGCTATATTGACATACATCTCAATCCTAATTTTCCACTTACTGTTTTTATGGGTTTAGAAAGATGTTTAATATCTCAGTTTCAATTTTCCTGTCTTTAAAGTGGAAACAATCGTATTTCCTTACATGGCTGAGGATTATGTTTCATGGCACAAGTAAACTCACTTCGATGCCTGGTGTCACCGAGTGGCAGTGGCAGAGACGCCTCATCACCAGCGTCACCACGAGCAGTGTTGGGATGGAAGGGGAGCGTGCCCGGCTCACCGCTTTGTTGGTGCAGATTCTCTGCCTAGGTTTCTTACTTTCCTCCTGGAGTCAGAATGACACCTAAAATCTAATGCACCTTCAGGAAAATCAAACAAATCAAAGTTGTTTAAATATTAACAAAATAACATTTAAAGGGTGGTGAAAGCATCATTCTGTAGATGTCCTTGCATGGAAAATGACTGCATTAGAGCTTCGTCCCACGATCAGACGTGGAGCACAAGGTGTGCACCAGGGCCCAGTGGCAGCCAAGGTGGGTGTGGAGTGCATCCGGCACCAGCAGTTTGCTTCTATGGCTGCTTTGTTTTTCACGCTATGGAGTCTTCACTCCAAGAATGCATTCAGGATGTAACGTGCCCTGAAGTAGGGACATTCGGAAGTGGATACATTTAATTTGCCTCTGAAATGTCCTCTCTCTTCAGGTCATATATACCAGAAGTTCTGAGATTGAAGAGCTGAAAGCCACTATTGAAAATCTGCAAGAGAATCAGAAACGATTACAAAAGGAGAAAGCAGAGGAAATTGAACAACTCCATGAAGTCATTGAGAAGCTGCAGCACGAGCTGTCCCTCATGGGGCCTGTGGTGCACGAAGTCAGCGACAGTCAGGCTGGCAGTCTGCAGAGCGAGCTGCTCTGCTCCCAGGCCGGGGGCCCTCGTGGGCAGGCCCTACAGGGCGAGCTCGAGGCTGCGCTGGAAGCCAAGGAGGCCCTGAGCCGGCTGCTGGCTGACCAGGAGCGCAGGCACAGCCAGGCCCTGGAGGCCCTGCAGCAGCGCCTCCAGGGCGCAGAGGAGGCTGCGGAGCTACAGCTGGCTGAGCTGGAGCGCAATGTAGCCCTCAGGGAGGCTGAGGTCGAAGACATGGCCTCCCGGATCCAGGAGTTCGAAGCGGCCCTGAAAGCAAAGGAAGCGACGATTGCCGAGAGAAATTTAGAAATCGACGCTCTGAACCAGCGGAAGGCGGCCCACTCTGCCGAGCTGGAGGCCGTCCTGTTGGCCTTGGCCCGCATCCGCCGCGCCCTGGAGCAGCAGCCGGGGCGGCGCCTCCCGAGCTGCAGTGGCTCCGAGCGCAGTGTGCCCGCCTCAGCCGCCAGCTGCAGGTGCTGCACCAGCGGTTCCTGAGGTGCCAGGTGGAGCTGGACAGGCGGCAGGCCCGCAGAGCCACAGCTCACACACGGGTGCCCGGGGCCCACCCACAGCCTCGCATGGATGGTGGCGCCAAGGCCCAGGTCACCGGCGACGTGGAGGCCTCCCATGATGCTGCTTTGGAGCCGGTTGTCCCTGACCCACAGGTGGGCTCCCCCCGCGGGCCATGGCAGGGTATTTTTTTTTACTCTCCTTTTCTCCTTTGATGTCAATGACTTCTCTCTGCGCTGGGCACTGGGGGCTGCAGTTGTCATGGTGGCTCATGACACAGCGGAGAAAGGGGGCCTGAAGCTCGGGCCAGCCTGGGCCTGTTCCGTGTCAGTACGCAGTGAAGCTGGGCTGAGGATTTCACTGTTTTGTACCATTTTAAGCTTATCGTTTTAAGCTTTTAAAAACAATTCTTTCTTTCACATAATAGGGACTGTCCAGTGAAACGGAGCTCACTATGTGAGGAGGGTCCGCTTAAGCTGCTTCTCTGGTTTCTAACCAAATGGTTTGTCTGTCGATGAGCAGTGCCTGTGTGAGATGTGGCGAGCGAGCTCTTCTTTTGGAGCTGGAGGCCCTGTAGGGAGTCGTCTTTTAAGGCTTCCACTTGTATTTGAGCAGAACCTTGGGAACTTGGTGCCTACCACCCCCACACCAGCTGGGTCTTTGTAGAGTGGCTCCCACTCTCAGATGCCCCAGTCCACCTTGCTCTGTGGGGTCGTCCTGGGTCGGGGCAGCTTTCTGCTGGGTCCTCAGCCCCGTTCCCATGTGGCCTGCTGTGGACCAAGGTGCTCGGCTGTGGATGTCACTGCCACCTCCCTCTGGCATCCCTGCTGGCTGCCGTACTGGTTCCCAGCTCCAGGCCACCTGAGGGGCAGCCCCAGCAACAGCCTCCTGCATGCTCAGCTTTCCTCTGTCTCCTCTGTCAAGGGTGATCTGCAGCCTGTCCTGGTGACGTTGAAGGATGCACCTCTCTGCAAGCAAGAAGGCGTGATGTCAGTGCTCACCGTCTGCCAGAGGCAGCTGCAGTCGGAGCTGCTCTTGGTGAAAAATGAAATGCGCCTGAGTCTGGAGGACGGCGGCAAGGTGTGGGGAGGGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAACGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGGGGGGAAGGCGTGAGGCCCCCCTGGGAGAGGCTGGGTGCAGAACATGTGGGTCTTGCCCTGGGCAGAGGCGGGTATTCTGCTGAGGTGAGGAGCACAGTCCGTGCCTGCAGTGACATGTTCTCTGAATCCTTTCTGTTCTGTAACGAGCTGTCCATAACTGTTGTGAAATTTCGTACGTGCTTCATTTAAGCCACTCTGTAGAAACAATCAGTTGGGTTTTTTTCTTGTAATTGATCCAAATGGATTTAACTGTGCTCGAGGGTTAGTCCTGGTTTGTCTTTTCATGGGAGGACCACATCGCCCCCGTGGGCCTCACCTCAGCTCAGGACTTTGATGGCCAGCGTCTGTTTTACTTTGAAAGGCCTCAGATTTATTCTTGTAATCTGTTCACCTCACTCCATATTGTCACTTGAAAAAAAGCTGGCACTTCTTTTCCCCGGGGAAGGAGGTTGCACCTTGACCATCTCAAATTGTAGCANNNNNNNNNN
|
pathogenic
| 321,464 |
The mutation in gene PCNT (pericentrin) at chromosome 21, position 46416329—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
CACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCCCCCTCCTCCCTGCTGTTTGCTAAATGTGCCCCAACTACTCCTCCAGGCTCTGAAACCCAGAGGCTCTAACACCAGAAGTGCTGGGCAGGTGTTTTATGGTCTCTAGGGTGGCACGGAAGCATGCTTGGTGCTGAAGCCTGCTGAGACCTGGGCTCACCCGAGCCCCTCGCAGCCCTCGTGAGTGTCCCGCACGTCGCTGGGACGTTTCTTGCATGAGTGCAGGTGCCGCCTGTTCCTGGGTCCACACTGCGTGCACCTCATTGGCGTTTAGAGCCTGAAAGATTCTTAATTCCACAGAAATCAGGGAAGGATGGGCCTAGGCCCGCAGTTCTGAGGAGACCCATGAACCTGGTTCGTGTGCTTGTCATGTGCTCTCGGGAAATACATCCTGTGTGGAGAGCCCTTCGCATCTCCTGCGGCAAACAGTCTTGGGGCCCTCATGACAGGAACGTTTCTTTGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTTGAGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCACTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGGTGGTCTCGAACTCCTGACCTCGTGATCCACCTGTCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACTGCACCCGGCCCAATTTTTTGAATTCTTAAGAGAAAGCTCAGCCCTGCCTGCCAAATTCTTAGAAGTTACACACACAGAAACTCCAAATTCATCACATAAACCACAATTTTGTGTTTTCGGTGCTCAGATATAGAACCTTCCCATCCTTTTTCCCTTGTATGAAGCTTGTGTCCTCAATCACCGCAGAAATAGGTTATGACAGTTGCCTTTTAAGCAAGGAGATGTAAGCCTTGGTTCTGTTTCTCATAGAATTAAATAAACTTGAAATGTGCAGGGCTCATTGTGGAATCACCCGAGTGCTCCGAAACTCCCTGAAATCCACTCATTAACACCAGACAGGTGCGACTCCTGGTGAGCCAGGTATTCCACCGTGCACCTGTTCTGTTTCACCTGCAGGGTAAAGAAAAAGTACTGGAAGATTGTCAGCTGCCGAAGGTCGATCTCGTAGCTCAGGTGAAACAGCTTCAGGAAAAACTGAACCGTTTGCTGTATTCCATGACCTTCCAGAATGTGGATGCTGCCGACACCAAATCTCTGTGGCCCATGGCCTCAGCACACCTGTTGGAGAGCAGCTGGAGTGATGATTCCTGTGACGGAGAAGAGCCTGACATATCACCCCACATAGACACATGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGCGTGTGATGCCAATACAACCCCAGGGGGTGTAACTGATGTTATCAAAAATTGGGATTCCTTGATACCAGATGAAATGCCAGATTCTCCCATTCAAGAAAAATCAGAATGTCAGGACATGTCTCTTTCTTCACCGACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTGCAGAGGCTGGGCCCCGGAAGAGCCCGGTCGGGATGCTGGACCTGTCTTCCTGGAGCTCCCCTGAGGTCCTCAGGAAGGACTGGACCCTGGAGCCCTGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTGAGCCTGTGCAGTGCCGACACATCCCTGGGGGACAGGGCGGACACCTCGCTGCCACAGACCCAGGGGCCGGGGCTGCTTTGTTCCCCAGGCGTGTCTGCAGCAGCGCTGGCACTGCAGTGGGCCGAGTCTCCGCCGGCTGACGACCACCATGTGCAGAGGACGGCTGTGGTAGGTGCCTGCTCTGCTCCCAGGCCTGCTGTTCCCGTGGGAATGTGGTCTGCCCGGCGCCACGGCAGCTGCCATTGTTTGTTCACCTCCTGACAGCACACACCTCGCAGTGCTGTGTGGGGCCAGCTCTGCAGGACTGGCATCATGGGCGCATTTAGATTATTTCAGTTGTTCAGGTATTTTTAAAATGCCTGAGATGCATTTGCCTGCCTCAGACATACCCTGGGCATGCTTCTCCACTGACGCTGACTCCAACGGGCATAGCCCAGACACGTCTTCGTGTGTGATGGGCATAGGGTTCTTTGTCCAGAATGGTTTTTTAGATTTATTTTTAGGAATGCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATGGAGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGACGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCCAGGTTCAAGCAAATCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACGCCACCACACCCGGCTAATTTTTGTAGTTTAGTAGAGACGGGGTTTTACCTTATTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCATGCTCAGCCAGAAATGCTTCATATTTTTAACAGGTTTCACATATGCTAATTAATTTTAATTTATGAGTTAGATCGTATTATTTCTAACATAATCATTTTGGGATTTTGTGTATCTTGAGTAAGATAAAATTAAAAATCAGGTATGGTTGGGCTCATGCTTGTAGTCTCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAATTTGAGACCAGGCTGGGTAACACGGTGAGACCCTGTCTCTACAAAAAAAACACAAAAAATTAGCTGGGCGTGCTGGTGCCGCCCATGGTCCCTGCTCTTCAGGAGGCTGAGGCAGGAGGATCACTTGACCTTGGGAGGTTGAGGATGCAGTGAGCCAAGATTGAACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTCCCTCAAAAAATAATAATTTAGCAGATACATATTATCTGAAACATCCATATACTATCATTTCATGCAAAACAATTTAAATCTGAAATATTTACTATTGGCTACATTAAAATATTCCTAAAGAGCTGTGGGTGAATCTGATTAAATTGTTGGAAGCATTCGACCTGTGTGTTCACCAGTTTTGAGTTGTTTCATCTGGGGTCTATGTGGGAAGATAAATTCAGGCCTTTGAAAGTTTTCACCTGGCAAAGTCAGCGCTATGATGTAATTACTCATTATTTTATGACCATTTAAAAATCTCTTAACAGGAGAAAGATGTCGAAGATTTTATCACAACATCCTTTGATTCTCAAGAAACATTAAGTTCACCTCCTCCTGGATTAGAAGGAAAAGCTGATAGAAGTGAGAAAAGTGAGTTGGTTATCTTTCATTTTTAATTTTTTATTTCAGTGGTTTCCTAGCACAGAATAGTCAAAAGAAT
|
CACGCCCAGCCTTAGATGGCACCTTTTGATGCACTGTCTGCACCTCGCCTCCTCCAGTCCAAGGCCCAGCGCAGCCTCCCTGGACACACAGCCACCCACCCTTCTCCTCCTTCTCCTCTGGGACACACATCTGTCCACCCTCCTCCTCCTCCTCCTCCTGGACACAGTCGCCCACCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCTTCCTCCTCCTTCTCGACACACAACCACCCACCCTGCTCCTCCTCCTCCTCCTCCTGGACATGCAGCCGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCTGCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGGACACGCAGCCGCCCACCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTGGACATGCAGCCGCCCACCCTGCTCCTCCTCCTCCTGGACACACAGACACCTACCCTCCTCCTGCTGGACACACAGCCACCCACCCTGCTCTTCCTCCTCCCCCTCCTCCCTGCTGTTTGCTAAATGTGCCCCAACTACTCCTCCAGGCTCTGAAACCCAGAGGCTCTAACACCAGAAGTGCTGGGCAGGTGTTTTATGGTCTCTAGGGTGGCACGGAAGCATGCTTGGTGCTGAAGCCTGCTGAGACCTGGGCTCACCCGAGCCCCTCGCAGCCCTCGTGAGTGTCCCGCACGTCGCTGGGACGTTTCTTGCATGAGTGCAGGTGCCGCCTGTTCCTGGGTCCACACTGCGTGCACCTCATTGGCGTTTAGAGCCTGAAAGATTCTTAATTCCACAGAAATCAGGGAAGGATGGGCCTAGGCCCGCAGTTCTGAGGAGACCCATGAACCTGGTTCGTGTGCTTGTCATGTGCTCTCGGGAAATACATCCTGTGTGGAGAGCCCTTCGCATCTCCTGCGGCAAACAGTCTTGGGGCCCTCATGACAGGAACGTTTCTTTGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTTGAGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCACTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGCACCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATTTTGGCCAGGGTGGTCTCGAACTCCTGACCTCGTGATCCACCTGTCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACTGCACCCGGCCCAATTTTTTGAATTCTTAAGAGAAAGCTCAGCCCTGCCTGCCAAATTCTTAGAAGTTACACACACAGAAACTCCAAATTCATCACATAAACCACAATTTTGTGTTTTCGGTGCTCAGATATAGAACCTTCCCATCCTTTTTCCCTTGTATGAAGCTTGTGTCCTCAATCACCGCAGAAATAGGTTATGACAGTTGCCTTTTAAGCAAGGAGATGTAAGCCTTGGTTCTGTTTCTCATAGAATTAAATAAACTTGAAATGTGCAGGGCTCATTGTGGAATCACCCGAGTGCTCCGAAACTCCCTGAAATCCACTCATTAACACCAGACAGGTGCGACTCCTGGTGAGCCAGGTATTCCACCGTGCACCTGTTCTGTTTCACCTGCAGGGTAAAGAAAAAGTACTGGAAGATTGTCAGCTGCCGAAGGTCGATCTCGTAGCTCAGGTGAAACAGCTTCAGGAAAAACTGAACCGTTTGCTGTATTCCATGACCTTCCAGAATGTGGATGCTGCCGACACCAAATCTCTGTGGCCCATGGCCTCAGCACACCTGTTGGAGAGCAGCTGGAGTGATGATTCCTGTGACGGAGAAGAGCCTGACATATCACCCCACATAGACACATGTGATGCCAATACAGCCACGGGGGGTGGTAACTGATGTTATCAAAAATCAGGCCATAGACGCGTGTGATGCCAATACAACCCCAGGGGGTGTAACTGATGTTATCAAAAATTGGGATTCCTTGATACCAGATGAAATGCCAGATTCTCCCATTCAAGAAAAATCAGAATGTCAGGACATGTCTCTTTCTTCACCGACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTGCAGAGGCTGGGCCCCGGAAGAGCCCGGTCGGGATGCTGGACCTGTCTTCCTGGAGCTCCCCTGAGGTCCTCAGGAAGGACTGGACCCTGGAGCCCTGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTGAGCCTGTGCAGTGCCGACACATCCCTGGGGGACAGGGCGGACACCTCGCTGCCACAGACCCAGGGGCCGGGGCTGCTTTGTTCCCCAGGCGTGTCTGCAGCAGCGCTGGCACTGCAGTGGGCCGAGTCTCCGCCGGCTGACGACCACCATGTGCAGAGGACGGCTGTGGTAGGTGCCTGCTCTGCTCCCAGGCCTGCTGTTCCCGTGGGAATGTGGTCTGCCCGGCGCCACGGCAGCTGCCATTGTTTGTTCACCTCCTGACAGCACACACCTCGCAGTGCTGTGTGGGGCCAGCTCTGCAGGACTGGCATCATGGGCGCATTTAGATTATTTCAGTTGTTCAGGTATTTTTAAAATGCCTGAGATGCATTTGCCTGCCTCAGACATACCCTGGGCATGCTTCTCCACTGACGCTGACTCCAACGGGCATAGCCCAGACACGTCTTCGTGTGTGATGGGCATAGGGTTCTTTGTCCAGAATGGTTTTTTAGATTTATTTTTAGGAATGCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATGGAGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGACGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCCAGGTTCAAGCAAATCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACGCCACCACACCCGGCTAATTTTTGTAGTTTAGTAGAGACGGGGTTTTACCTTATTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCATGCTCAGCCAGAAATGCTTCATATTTTTAACAGGTTTCACATATGCTAATTAATTTTAATTTATGAGTTAGATCGTATTATTTCTAACATAATCATTTTGGGATTTTGTGTATCTTGAGTAAGATAAAATTAAAAATCAGGTATGGTTGGGCTCATGCTTGTAGTCTCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAATTTGAGACCAGGCTGGGTAACACGGTGAGACCCTGTCTCTACAAAAAAAACACAAAAAATTAGCTGGGCGTGCTGGTGCCGCCCATGGTCCCTGCTCTTCAGGAGGCTGAGGCAGGAGGATCACTTGACCTTGGGAGGTTGAGGATGCAGTGAGCCAAGATTGAACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTCCCTCAAAAAATAATAATTTAGCAGATACATATTATCTGAAACATCCATATACTATCATTTCATGCAAAACAATTTAAATCTGAAATATTTACTATTGGCTACATTAAAATATTCCTAAAGAGCTGTGGGTGAATCTGATTAAATTGTTGGAAGCATTCGACCTGTGTGTTCACCAGTTTTGAGTTGTTTCATCTGGGGTCTATGTGGGAAGATAAATTCAGGCCTTTGAAAGTTTTCACCTGGCAAAGTCAGCGCTATGATGTAATTACTCATTATTTTATGACCATTTAAAAATCTCTTAACAGGAGAAAGATGTCGAAGATTTTATCACAACATCCTTTGATTCTCAAGAAACATTAAGTTCACCTCCTCCTGGATTAGAAGGAAAAGCTGATAGAAGTGAGAAAAGTGAGTTGGTTATCTTTCATTTTTAATTTTTTATTTCAGTGGTTTCCTAGCACAGAATAGTCAAAAGAA
|
pathogenic
| 321,502 |
Clinical significance of chromosome 21, position 46418198, gene PCNT (pericentrin): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
AACCGTTTGCTGTATTCCATGACCTTCCAGAATGTGGATGCTGCCGACACCAAATCTCTGTGGCCCATGGCCTCAGCACACCTGTTGGAGAGCAGCTGGAGTGATGATTCCTGTGACGGAGAAGAGCCTGACATATCACCCCACATAGACACATGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGCGTGTGATGCCAATACAACCCCAGGGGGTGTAACTGATGTTATCAAAAATTGGGATTCCTTGATACCAGATGAAATGCCAGATTCTCCCATTCAAGAAAAATCAGAATGTCAGGACATGTCTCTTTCTTCACCGACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTGCAGAGGCTGGGCCCCGGAAGAGCCCGGTCGGGATGCTGGACCTGTCTTCCTGGAGCTCCCCTGAGGTCCTCAGGAAGGACTGGACCCTGGAGCCCTGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTGAGCCTGTGCAGTGCCGACACATCCCTGGGGGACAGGGCGGACACCTCGCTGCCACAGACCCAGGGGCCGGGGCTGCTTTGTTCCCCAGGCGTGTCTGCAGCAGCGCTGGCACTGCAGTGGGCCGAGTCTCCGCCGGCTGACGACCACCATGTGCAGAGGACGGCTGTGGTAGGTGCCTGCTCTGCTCCCAGGCCTGCTGTTCCCGTGGGAATGTGGTCTGCCCGGCGCCACGGCAGCTGCCATTGTTTGTTCACCTCCTGACAGCACACACCTCGCAGTGCTGTGTGGGGCCAGCTCTGCAGGACTGGCATCATGGGCGCATTTAGATTATTTCAGTTGTTCAGGTATTTTTAAAATGCCTGAGATGCATTTGCCTGCCTCAGACATACCCTGGGCATGCTTCTCCACTGACGCTGACTCCAACGGGCATAGCCCAGACACGTCTTCGTGTGTGATGGGCATAGGGTTCTTTGTCCAGAATGGTTTTTTAGATTTATTTTTAGGAATGCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATGGAGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGACGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCCAGGTTCAAGCAAATCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACGCCACCACACCCGGCTAATTTTTGTAGTTTAGTAGAGACGGGGTTTTACCTTATTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCATGCTCAGCCAGAAATGCTTCATATTTTTAACAGGTTTCACATATGCTAATTAATTTTAATTTATGAGTTAGATCGTATTATTTCTAACATAATCATTTTGGGATTTTGTGTATCTTGAGTAAGATAAAATTAAAAATCAGGTATGGTTGGGCTCATGCTTGTAGTCTCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAATTTGAGACCAGGCTGGGTAACACGGTGAGACCCTGTCTCTACAAAAAAAACACAAAAAATTAGCTGGGCGTGCTGGTGCCGCCCATGGTCCCTGCTCTTCAGGAGGCTGAGGCAGGAGGATCACTTGACCTTGGGAGGTTGAGGATGCAGTGAGCCAAGATTGAACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTCCCTCAAAAAATAATAATTTAGCAGATACATATTATCTGAAACATCCATATACTATCATTTCATGCAAAACAATTTAAATCTGAAATATTTACTATTGGCTACATTAAAATATTCCTAAAGAGCTGTGGGTGAATCTGATTAAATTGTTGGAAGCATTCGACCTGTGTGTTCACCAGTTTTGAGTTGTTTCATCTGGGGTCTATGTGGGAAGATAAATTCAGGCCTTTGAAAGTTTTCACCTGGCAAAGTCAGCGCTATGATGTAATTACTCATTATTTTATGACCATTTAAAAATCTCTTAACAGGAGAAAGATGTCGAAGATTTTATCACAACATCCTTTGATTCTCAAGAAACATTAAGTTCACCTCCTCCTGGATTAGAAGGAAAAGCTGATAGAAGTGAGAAAAGTGAGTTGGTTATCTTTCATTTTTAATTTTTTATTTCAGTGGTTTCCTAGCACAGAATAGTCAAAAGAATTCCTGCATCCTTTGCCTGGTTCTGCGTCTGCCCCCCGCTGACCTCCACCCCGGCTCTGCGCTTTGTCGGGCGTGCACCTGGGGCCTCTTGACTTCTGAAAACACGCCTGTACCTTTCACAGAGCCAAGGTTGCTGGCCCGGGCCACGCTCCACCCTGGAATGTTCACCCTGATCCAAGGCTGGCATCTCAGCTACAGCTACAGACCTTGCTCAGATTCACCCATTGTCCCAGTAGTGTCCTTTATGGAAAAGACACCCCAGCTCACAGGCTGTGTTCAGGTGTCTTTGGCAGGATGGAGACTGGGGCGGTGCACGCCATGTTTCCAGGCTCTGCTGCCTTGCCTGCCCACCCTGCCTTTCCCTCCCCTTGGGGTGGACGTCCCTCTCTCTGCTGTGGGTTTCGGGGCACCGGCCCTGGAGAGGAGCCGAGGGGCCGCTGACTGTGGCGTGTCCTCGCGATGGTGCGTGGGGGGCTGCGTCTCCCCGGACCTCGTGGCGGGAGGTGCGTGGGCTTGACTTGGGCCTTTGTCTGTGATGGTGCCTGCCAGGTTTCCTCCACCTCCTTCTGTGGGAGATGCGGAGACTGAGTATTCTCTTCCCTCTCATGCTCACGCCCACTGGTCTCAGCCTCCCTTGGTTGCCCTGGCCCGCATCAGTTGTTGTGGCGGTTACCTGCCACACCGTCCTTTTTTTCATTTCATAACTTTTTCTATAATTGTTGTCTTTTTACAAGTCAGTCACCTTTTGAGGTGCTCTAACTTTTTAAAAAATCTGTTGGATTTTTCAGCGATTTAGTGTTTTTTGAGAACATGGTCACAATTTAATTAGAAATTTTAGTATTTGCAGAGTAGGGCCAGCAGCTTTTTAATTTTGTTTTTATTTATTTGATGAATAGTGAGCACGCAGGGTGACAGTTATGGGTGCTGAGGGGACCGTTTCCTGAGCAGCCTGTGTCCCAGCTCCCCACTCAGGACTGCAGCTCCCTGGGGATGCCACATTCAACTCTCAGAAATGTCTTCTCGTATTTGCTTTATTTTCAAACTCTATTTGCTGTTTAAAGTGGCATCTTCAGCCCTCCTAGCCCCTCGCCACACGCCCCTTGCTACACGAGGTGCAGTCTGCACGCCCTGTGCTGTCACAGCCAAGGTTTGCCCTTAAAGGACGCGCCCCGTGTTCCAGCAGAGCCGCTGGGAGCGTGCGTCCCCCTCGAGCCACTTTTGTTTTTCTTGGCTCAGTTTCTCCTGTGTGCTTCACTGCTGTCCTCGCACACAGTGTCCAGGTGAATGTCATCCAAGCCTTCCAAGCACAGCAGGTGCTTCCCCAACAACTCTCAGGGGCTCCCAGGCGGCCCCTTGCCCCTCCTCAACGGTCTCTTATTTACCGAGACAGGGTCTTGCTCTCTCACGCAGGCTGGAGTGCAGTGGCGTAGTCTCGACTCACTGCAGCCTCCACCTCCCGTACTCAAGTCATCCTCCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCAGCCCCCTCTTTTTTAAGGAAACATGTCCCCAGAAGCCTCTGTAGAAAAGGTGTCTGGTAGGTGCTTGTTTTTGAGAACTTCCTCGTCTCCCTGGTGGTTGTCGGTTGGTTGGCTGGGTGCAGACACTTGGGTTGGAAGGTATCGCGTGCCTGTCCACTGCCTCTGTGCCCGCGCCCTCCAGTGACGCACAACCTTTGAGGGGCCTGCGCGGTCAGGGTGTCCGCCGCCTCTGTGCCTGCGCCCTCCAGTGACACGCGACCTTGGAGGCCTGCGCGGTCGGGGTGGAGGATTTCCTCCTCGTTCGTCCTTCCTCCATTCACGTATCCTATGATTTTCTCT
|
AACCGTTTGCTGTATTCCATGACCTTCCAGAATGTGGATGCTGCCGACACCAAATCTCTGTGGCCCATGGCCTCAGCACACCTGTTGGAGAGCAGCTGGAGTGATGATTCCTGTGACGGAGAAGAGCCTGACATATCACCCCACATAGACACATGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGCGTGTGATGCCAATACAACCCCAGGGGGTGTAACTGATGTTATCAAAAATTGGGATTCCTTGATACCAGATGAAATGCCAGATTCTCCCATTCAAGAAAAATCAGAATGTCAGGACATGTCTCTTTCTTCACCGACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTGCAGAGGCTGGGCCCCGGAAGAGCCCGGTCGGGATGCTGGACCTGTCTTCCTGGAGCTCCCCTGAGGTCCTCAGGAAGGACTGGACCCTGGAGCCCTGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTGAGCCTGTGCAGTGCCGACACATCCCTGGGGGACAGGGCGGACACCTCGCTGCCACAGACCCAGGGGCCGGGGCTGCTTTGTTCCCCAGGCGTGTCTGCAGCAGCGCTGGCACTGCAGTGGGCCGAGTCTCCGCCGGCTGACGACCACCATGTGCAGAGGACGGCTGTGGTAGGTGCCTGCTCTGCTCCCAGGCCTGCTGTTCCCGTGGGAATGTGGTCTGCCCGGCGCCACGGCAGCTGCCATTGTTTGTTCACCTCCTGACAGCACACACCTCGCAGTGCTGTGTGGGGCCAGCTCTGCAGGACTGGCATCATGGGCGCATTTAGATTATTTCAGTTGTTCAGGTATTTTTAAAATGCCTGAGATGCATTTGCCTGCCTCAGACATACCCTGGGCATGCTTCTCCACTGACGCTGACTCCAACGGGCATAGCCCAGACACGTCTTCGTGTGTGATGGGCATAGGGTTCTTTGTCCAGAATGGTTTTTTAGATTTATTTTTAGGAATGCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATGGAGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGACGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCCAGGTTCAAGCAAATCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACACGCCACCACACCCGGCTAATTTTTGTAGTTTAGTAGAGACGGGGTTTTACCTTATTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCACCATGCTCAGCCAGAAATGCTTCATATTTTTAACAGGTTTCACATATGCTAATTAATTTTAATTTATGAGTTAGATCGTATTATTTCTAACATAATCATTTTGGGATTTTGTGTATCTTGAGTAAGATAAAATTAAAAATCAGGTATGGTTGGGCTCATGCTTGTAGTCTCAGCACTTTGGGAGGCTGAGGCGGGAGGATTGCTTGAGCCCAGGAATTTGAGACCAGGCTGGGTAACACGGTGAGACCCTGTCTCTACAAAAAAAACACAAAAAATTAGCTGGGCGTGCTGGTGCCGCCCATGGTCCCTGCTCTTCAGGAGGCTGAGGCAGGAGGATCACTTGACCTTGGGAGGTTGAGGATGCAGTGAGCCAAGATTGAACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTCCCTCAAAAAATAATAATTTAGCAGATACATATTATCTGAAACATCCATATACTATCATTTCATGCAAAACAATTTAAATCTGAAATATTTACTATTGGCTACATTAAAATATTCCTAAAGAGCTGTGGGTGAATCTGATTAAATTGTTGGAAGCATTCGACCTGTGTGTTCACCAGTTTTGAGTTGTTTCATCTGGGGTCTATGTGGGAAGATAAATTCAGGCCTTTGAAAGTTTTCACCTGGCAAAGTCAGCGCTATGATGTAATTACTCATTATTTTATGACCATTTAAAAATCTCTTATCTGAACAGGAGAAAGATGTCGAAGATTTTATCACAACATCCTTTGATTCTCAAGAAACATTAAGTTCACCTCCTCCTGGATTAGAAGGAAAAGCTGATAGAAGTGAGAAAAGTGAGTTGGTTATCTTTCATTTTTAATTTTTTATTTCAGTGGTTTCCTAGCACAGAATAGTCAAAAGAATTCCTGCATCCTTTGCCTGGTTCTGCGTCTGCCCCCCGCTGACCTCCACCCCGGCTCTGCGCTTTGTCGGGCGTGCACCTGGGGCCTCTTGACTTCTGAAAACACGCCTGTACCTTTCACAGAGCCAAGGTTGCTGGCCCGGGCCACGCTCCACCCTGGAATGTTCACCCTGATCCAAGGCTGGCATCTCAGCTACAGCTACAGACCTTGCTCAGATTCACCCATTGTCCCAGTAGTGTCCTTTATGGAAAAGACACCCCAGCTCACAGGCTGTGTTCAGGTGTCTTTGGCAGGATGGAGACTGGGGCGGTGCACGCCATGTTTCCAGGCTCTGCTGCCTTGCCTGCCCACCCTGCCTTTCCCTCCCCTTGGGGTGGACGTCCCTCTCTCTGCTGTGGGTTTCGGGGCACCGGCCCTGGAGAGGAGCCGAGGGGCCGCTGACTGTGGCGTGTCCTCGCGATGGTGCGTGGGGGGCTGCGTCTCCCCGGACCTCGTGGCGGGAGGTGCGTGGGCTTGACTTGGGCCTTTGTCTGTGATGGTGCCTGCCAGGTTTCCTCCACCTCCTTCTGTGGGAGATGCGGAGACTGAGTATTCTCTTCCCTCTCATGCTCACGCCCACTGGTCTCAGCCTCCCTTGGTTGCCCTGGCCCGCATCAGTTGTTGTGGCGGTTACCTGCCACACCGTCCTTTTTTTCATTTCATAACTTTTTCTATAATTGTTGTCTTTTTACAAGTCAGTCACCTTTTGAGGTGCTCTAACTTTTTAAAAAATCTGTTGGATTTTTCAGCGATTTAGTGTTTTTTGAGAACATGGTCACAATTTAATTAGAAATTTTAGTATTTGCAGAGTAGGGCCAGCAGCTTTTTAATTTTGTTTTTATTTATTTGATGAATAGTGAGCACGCAGGGTGACAGTTATGGGTGCTGAGGGGACCGTTTCCTGAGCAGCCTGTGTCCCAGCTCCCCACTCAGGACTGCAGCTCCCTGGGGATGCCACATTCAACTCTCAGAAATGTCTTCTCGTATTTGCTTTATTTTCAAACTCTATTTGCTGTTTAAAGTGGCATCTTCAGCCCTCCTAGCCCCTCGCCACACGCCCCTTGCTACACGAGGTGCAGTCTGCACGCCCTGTGCTGTCACAGCCAAGGTTTGCCCTTAAAGGACGCGCCCCGTGTTCCAGCAGAGCCGCTGGGAGCGTGCGTCCCCCTCGAGCCACTTTTGTTTTTCTTGGCTCAGTTTCTCCTGTGTGCTTCACTGCTGTCCTCGCACACAGTGTCCAGGTGAATGTCATCCAAGCCTTCCAAGCACAGCAGGTGCTTCCCCAACAACTCTCAGGGGCTCCCAGGCGGCCCCTTGCCCCTCCTCAACGGTCTCTTATTTACCGAGACAGGGTCTTGCTCTCTCACGCAGGCTGGAGTGCAGTGGCGTAGTCTCGACTCACTGCAGCCTCCACCTCCCGTACTCAAGTCATCCTCCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCAGCCCCCTCTTTTTTAAGGAAACATGTCCCCAGAAGCCTCTGTAGAAAAGGTGTCTGGTAGGTGCTTGTTTTTGAGAACTTCCTCGTCTCCCTGGTGGTTGTCGGTTGGTTGGCTGGGTGCAGACACTTGGGTTGGAAGGTATCGCGTGCCTGTCCACTGCCTCTGTGCCCGCGCCCTCCAGTGACGCACAACCTTTGAGGGGCCTGCGCGGTCAGGGTGTCCGCCGCCTCTGTGCCTGCGCCCTCCAGTGACACGCGACCTTGGAGGCCTGCGCGGTCGGGGTGGAGGATTTCCTCCTCGTTCGTCCTTCCTCCATTCACGTATCCTATGATTT
|
benign
| 321,519 |
Is the variant located on chromosome 21 at position 46427743, gene PCNT (pericentrin), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
CCGAGGCGGTGCCCTCCCTCTCCACAGCTGCCCGCCCTTCACAGAGTCCTGGCGGCAGCTCGGGGCCGCAGGTGGTGTAGAGCGTGGCTGTGTGGGGTGGCAGGCAACTCCCTTCTGACGCGCTTTCCCGCCACAGGCTTTACTGCAGATGGTGCGTGACGAGAGCCACCAGATCCTGGCGCTGTCAGAAGGCCTTGCACCCCCAAGCGGCGAGCCACACCCACCCCGGAAGGAAGACGAGATACAGGACATCTCGCTCCATGGGGGAAAGACGCAGGTTTATTTTGCCCTTCACACACTTCTTTTCCAAAGGATTTAAGGAGCTTGTGGTAATGGCCGCGTCCTTAGGGCCACGTGGACACTAGGATTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCGGCTCACTGCAACCTCCACCACCCCGGGTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATCTTAGCTAGGCTGGTCTTGAACTCCAGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAGGATTTTTTTTAGCACGGCCAAAAAGACTGAGGTCCAAGAACCCTGGGGAGGCCTTCCCATCTCCCACAGCCAGCGCAGGCTCTCGGGGCAGGTTCCCTGCGGGACGTGGAGGTGTGTGGGGGGCAGAAGGGCTCAGGGCTTTCAGGCCTGTGCCCTGTGTGAGCCTGCGGGGAGGCTGAGAGTGGTCCCTCCTGGCCATGTGGCCCTGCGGACTCGGCCCATTCCAGCACTTGTCCCCCAGGGCCTCTCCTCCTGCCACTCGGGTGACTTGCCCTCCGGCCTCATTCCTCCCCTTGGGTCTCTCCTACCTCCCCCTCCACACCCCAAGCCCCAGCAACTGGACCTCAGGGCCTCACCTCTGTGCTGTCGACCCCGCACCCCACTTTTCCCCAAGTCCTCCCCATCTCCCTGCCTGTCTGCTTCCATCACCAGGGCTTGTGGAGGTTGTGGAGTGGGTGCCAACTCCCATCACGCTCCCTCCCATCTCCGTGCCCACCCTGTCCTGCCCCTGTGCCTGCCTCTGACTGGGATCAAAGCTTTGTGAGGGAGGGAAGGGCTTTCTCCCTGTGCCTGGAACGCACAGGGTGTGCTGGTGCCATGGAGAGCCGGTGGGAGGGTCAGCCCCACCCGCCTCCGCTCGCCCCTCCAGCAGGCCCTGGTTGTGTGCGAGCGGCAGCCTGGCTGGCATTCAGGAGGCTCATTGGTGCTGCACGCTGCCCCTGGGGACCAGCGGGTAGCCCCTTGCAGCCTTAGGTCCCCTCCAGGCCCTGGGCCTTGAAGGCACAGCAGCAGGAAAAGAGGGAAGGAGCTTTGCTGACATTTTCCTGACCTTACTTTATCGTCTTTTTCAGTCTCTTCTGTGCTCATGATGGCAGCCTTTGCTTCTCGTGCCTTGAATGGCCCTGGGCAGTGTGTGTCTTCTCTTCTGTCAGGGTCATTTCTGTTTGAACGGCTGTCAGTCTGCTCAGCTGCCGTAACAGAACACCCCAGACCAGGGGGCTTAAACAGCAGACATTGATTTCACCTGTTGTGGCATCAGGGTGCCCACAGGGTTGGATTCTGGTGTAGGCGCCCTTCCTGGTTTGCGGACAGCGTCTCCGTGCTGTGTCCTCATATGATGGAGACAGCGAGTGAGCTCTGGTGTCTCTTCCTCTTCTTAAGAGGCCTCATTTACCCTGAATCACCTCCCGCAGGCCCCATCTCCAAACGCAGTCACACTGCGAACTTTAGGGCACAAGGATGCAGGTGCATTTGTGAGGACGCCACGTTTCTTCCTTCTTCCTTTAGGAAGTGCCCACCGCGTGCCCCGATTGGAGAGGGGACCTTCTGCAGGTTGTGCAAGAGGCCTTTGAAAAAGAGCAGGAGATGCAGGGGGTTGAGCTGCAGCCCCGACTCAGTGGCTCAGATCTGGGGGGTCACAGCTCCCTGCTCGAAAGGCTGGAGAAGATCATCCGTGAGCAGGTGAGTGTCAGCTCTGCCACCAGGCCTCAGTTTGCCCCAGGGGTCCAGCCCTGGCAGAGAGGGTGACACAGACTGTTTTGTGTGTGAATTTCGGTTTGTGTGTTTCTCTCGACCGCTGGAATGTGGCTGTCACTTACCCAGGTGTTGACGCTCAGTCCATGCAGGATGCTGCACTTTTCCACCTGCAGCTGTAACAGGACAGGTGTGCTCGAGATGCACCCTCAGGCCTCACTCTTTTCTGAGATAGGTGGCTAAAGAAACGTTCTCCATTCCAAGTAGCCCCTCCTAGGTTGAGAGGTGCTCTGTGTGCAGGGCTGGGTGGCGTTGGTGCCGTGGGGACACTGGAAATCCTGTTCCTGCCAGCATACACGAGGAAACCTAGTGTTGAGAGTAACTGGCTTGCAGGCCTCACGCAGGGTAGTGCAGCCCAGCCCTGACGCCTGCAGGCCCCAGAGCTGAGGCCCAGCAGATACTGTGCACCCATCCCAGACTCAGCAGGCTTGTCCCGGCGGAGCTGGTTTTGAGGGCGGGCAGCAGGGAAGGCCGGGGCATGGGGTGGCTGCCCAATGCTCAGGCTGCTTGTCCCATTGTGCCCCCAGGGAGACCTGCAGGAAAAGTCCCTGGAGCATCTTCGCTTGCCGGACCGGAGCAGCCTGCTGTCCGAGATCCAGGCGCTGCGTGCCCAGCTGCGCATGACGCACCTGCAGAACCAGGAGAAGCTGCAGCACTTGCGCACGGCGCTGACAAGCGCAGAGGCGCGCGGGAGCCAGCAGGAGCACCAGCTGCGCAGGCAGGGTGGGTGTCACTGTCTACACTGCCTGGGGCCCGGCCTCTGCACCTGCCCGCCCGACACTCACCTGTGTGGCCTTGGGAGCAGAGGGTGGTGACAGGGCATCATCTAGTCAAGCCCCTGAGTGTTGCCATGGTTGTCAGCTGATAGGACTGAGCAGAAAGGACCCTGGAGACAGGCAGCGCTGGGTGGGGCTGGCACGGAGGCCTCACTCTTGGGCCTGATGTGGGCAAGAGGGGCCTGGGTTGGGCTCTGAGTGCTGGCAGATTCTTGGGAGCTCATGCTAGAGTTCAGGAATGTCTCGTAGGTTTCTACATTTAATTTAGCTTCTTCGGGAGTTTTTATGTAGATGCTCAGGTCATCTGTGGGTAAGTAACGATTTTTTGTTTCTTGCCCGTGTTCTCTCACGTGCTGTGCCGTCAGCTGTGTGGGCAGATGCCATTCCCTGCTCTTAGTTTTGGGGGCAGGAGCTGGTCTCGTACCATCGCATGTGGGGTCAGGCGCCCTTGGTCAGCTTGGGCAAGTGCCCTCTGTTCCTAGTTTTGGATTCCGTCAAGGGGAACGGCCTTGCAGTTCAGCCCACGGCCCTTGTCCCGGCGCCCATGCCCTTTGTGCTCTCTGGGGCTGGGGGCCGGCGCTGTGCACATGCTCGTGAGGGGCATGGGTGGGGCTGGCGCTGTGCAAGCGCTTGTCAGGGGCATGGGCGGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGAGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGGCACGGGCAGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGGGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGGCACAGGGGGGCCGGCACTGTGCGATCGCTCGTGAGGGGCATGGGGGTGGTGGGCCGGTGCTGTCTGAGTGCTCGTGAGGGGCACTGGTCTGTTTTCTGTTGTGCCTTTTTGGTCTTGGTGCTGGGTAGCGCCAGCCCCACGGGGTGCGGGAAGTATTTGGGAAGTAGCCCCTCCGCCCTCCGTTGTCTAGAATTGGGGTTATTTCTTCCTTAAGTTTTGGGAGAATTTTCCAGTAAAGCCACCTGGGCCTGGAGTTCCCTCTGTTGGAGGCAGTTTAGGGTGTGAGTGGGGGTGAGGTGGCATTTTTAGGATGGCCCCAGGGCTATATCACTCCTGGACTCTGTG
|
CCGAGGCGGTGCCCTCCCTCTCCACAGCTGCCCGCCCTTCACAGAGTCCTGGCGGCAGCTCGGGGCCGCAGGTGGTGTAGAGCGTGGCTGTGTGGGGTGGCAGGCAACTCCCTTCTGACGCGCTTTCCCGCCACAGGCTTTACTGCAGATGGTGCGTGACGAGAGCCACCAGATCCTGGCGCTGTCAGAAGGCCTTGCACCCCCAAGCGGCGAGCCACACCCACCCCGGAAGGAAGACGAGATACAGGACATCTCGCTCCATGGGGGAAAGACGCAGGTTTATTTTGCCCTTCACACACTTCTTTTCCAAAGGATTTAAGGAGCTTGTGGTAATGGCCGCGTCCTTAGGGCCACGTGGACACTAGGATTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCGGCTCACTGCAACCTCCACCACCCCGGGTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATCTTAGCTAGGCTGGTCTTGAACTCCAGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAGGATTTTTTTTAGCACGGCCAAAAAGACTGAGGTCCAAGAACCCTGGGGAGGCCTTCCCATCTCCCACAGCCAGCGCAGGCTCTCGGGGCAGGTTCCCTGCGGGACGTGGAGGTGTGTGGGGGGCAGAAGGGCTCAGGGCTTTCAGGCCTGTGCCCTGTGTGAGCCTGCGGGGAGGCTGAGAGTGGTCCCTCCTGGCCATGTGGCCCTGCGGACTCGGCCCATTCCAGCACTTGTCCCCCAGGGCCTCTCCTCCTGCCACTCGGGTGACTTGCCCTCCGGCCTCATTCCTCCCCTTGGGTCTCTCCTACCTCCCCCTCCACACCCCAAGCCCCAGCAACTGGACCTCAGGGCCTCACCTCTGTGCTGTCGACCCCGCACCCCACTTTTCCCCAAGTCCTCCCCATCTCCCTGCCTGTCTGCTTCCATCACCAGGGCTTGTGGAGGTTGTGGAGTGGGTGCCAACTCCCATCACGCTCCCTCCCATCTCCGTGCCCACCCTGTCCTGCCCCTGTGCCTGCCTCTGACTGGGATCAAAGCTTTGTGAGGGAGGGAAGGGCTTTCTCCCTGTGCCTGGAACGCACAGGGTGTGCTGGTGCCATGGAGAGCCGGTGGGAGGGTCAGCCCCACCCGCCTCCGCTCGCCCCTCCAGCAGGCCCTGGTTGTGTGCGAGCGGCAGCCTGGCTGGCATTCAGGAGGCTCATTGGTGCTGCACGCTGCCCCTGGGGACCAGCGGGTAGCCCCTTGCAGCCTTAGGTCCCCTCCAGGCCCTGGGCCTTGAAGGCACAGCAGCAGGAAAAGAGGGAAGGAGCTTTGCTGACATTTTCCTGACCTTACTTTATCGTCTTTTTCAGTCTCTTCTGTGCTCATGATGGCAGCCTTTGCTTCTCGTGCCTTGAATGGCCCTGGGCAGTGTGTGTCTTCTCTTCTGTCAGGGTCATTTCTGTTTGAACGGCTGTCAGTCTGCTCAGCTGCCGTAACAGAACACCCCAGACCAGGGGGCTTAAACAGCAGACATTGATTTCACCTGTTGTGGCATCAGGGTGCCCACAGGGTTGGATTCTGGTGTAGGCGCCCTTCCTGGTTTGCGGACAGCGTCTCCGTGCTGTGTCCTCATATGATGGAGACAGCGAGTGAGCTCTGGTGTCTCTTCCTCTTCTTAAGAGGCCTCATTTACCCTGAATCACCTCCCGCAGGCCCCATCTCCAAACGCAGTCACACTGCGAACTTTAGGGCACAAGGATGCAGGTGCATTTGTGAGGACGCCACGTTTCTTCCTTCTTCCTTTAGGAAGTGCCCACCGCGTGCCCCGATTGGAGAGGGGACCTTCTGCAGGTTGTGCAAGAGGCCTTTGAAAAAGAGCAGGAGATGCAGGGGGTTGAGCTGCAGCCCCGACTCAGTGGCTCAGATCTGGGGGGGTCACAGCTCCCTGCTCGAAAGGCTGGAGAAGATCATCCGTGAGCAGGTGAGTGTCAGCTCTGCCACCAGGCCTCAGTTTGCCCCAGGGGTCCAGCCCTGGCAGAGAGGGTGACACAGACTGTTTTGTGTGTGAATTTCGGTTTGTGTGTTTCTCTCGACCGCTGGAATGTGGCTGTCACTTACCCAGGTGTTGACGCTCAGTCCATGCAGGATGCTGCACTTTTCCACCTGCAGCTGTAACAGGACAGGTGTGCTCGAGATGCACCCTCAGGCCTCACTCTTTTCTGAGATAGGTGGCTAAAGAAACGTTCTCCATTCCAAGTAGCCCCTCCTAGGTTGAGAGGTGCTCTGTGTGCAGGGCTGGGTGGCGTTGGTGCCGTGGGGACACTGGAAATCCTGTTCCTGCCAGCATACACGAGGAAACCTAGTGTTGAGAGTAACTGGCTTGCAGGCCTCACGCAGGGTAGTGCAGCCCAGCCCTGACGCCTGCAGGCCCCAGAGCTGAGGCCCAGCAGATACTGTGCACCCATCCCAGACTCAGCAGGCTTGTCCCGGCGGAGCTGGTTTTGAGGGCGGGCAGCAGGGAAGGCCGGGGCATGGGGTGGCTGCCCAATGCTCAGGCTGCTTGTCCCATTGTGCCCCCAGGGAGACCTGCAGGAAAAGTCCCTGGAGCATCTTCGCTTGCCGGACCGGAGCAGCCTGCTGTCCGAGATCCAGGCGCTGCGTGCCCAGCTGCGCATGACGCACCTGCAGAACCAGGAGAAGCTGCAGCACTTGCGCACGGCGCTGACAAGCGCAGAGGCGCGCGGGAGCCAGCAGGAGCACCAGCTGCGCAGGCAGGGTGGGTGTCACTGTCTACACTGCCTGGGGCCCGGCCTCTGCACCTGCCCGCCCGACACTCACCTGTGTGGCCTTGGGAGCAGAGGGTGGTGACAGGGCATCATCTAGTCAAGCCCCTGAGTGTTGCCATGGTTGTCAGCTGATAGGACTGAGCAGAAAGGACCCTGGAGACAGGCAGCGCTGGGTGGGGCTGGCACGGAGGCCTCACTCTTGGGCCTGATGTGGGCAAGAGGGGCCTGGGTTGGGCTCTGAGTGCTGGCAGATTCTTGGGAGCTCATGCTAGAGTTCAGGAATGTCTCGTAGGTTTCTACATTTAATTTAGCTTCTTCGGGAGTTTTTATGTAGATGCTCAGGTCATCTGTGGGTAAGTAACGATTTTTTGTTTCTTGCCCGTGTTCTCTCACGTGCTGTGCCGTCAGCTGTGTGGGCAGATGCCATTCCCTGCTCTTAGTTTTGGGGGCAGGAGCTGGTCTCGTACCATCGCATGTGGGGTCAGGCGCCCTTGGTCAGCTTGGGCAAGTGCCCTCTGTTCCTAGTTTTGGATTCCGTCAAGGGGAACGGCCTTGCAGTTCAGCCCACGGCCCTTGTCCCGGCGCCCATGCCCTTTGTGCTCTCTGGGGCTGGGGGCCGGCGCTGTGCACATGCTCGTGAGGGGCATGGGTGGGGCTGGCGCTGTGCAAGCGCTTGTCAGGGGCATGGGCGGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGAGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGGCACGGGCAGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGGGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGGCACAGGGGGGCCGGCACTGTGCGATCGCTCGTGAGGGGCATGGGGGTGGTGGGCCGGTGCTGTCTGAGTGCTCGTGAGGGGCACTGGTCTGTTTTCTGTTGTGCCTTTTTGGTCTTGGTGCTGGGTAGCGCCAGCCCCACGGGGTGCGGGAAGTATTTGGGAAGTAGCCCCTCCGCCCTCCGTTGTCTAGAATTGGGGTTATTTCTTCCTTAAGTTTTGGGAGAATTTTCCAGTAAAGCCACCTGGGCCTGGAGTTCCCTCTGTTGGAGGCAGTTTAGGGTGTGAGTGGGGGTGAGGTGGCATTTTTAGGATGGCCCCAGGGCTATATCACTCCTGGACTCTGT
|
pathogenic
| 321,544 |
Chromosome 21, position 46430158, gene PCNT (pericentrin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic
|
CTGGGTGGCGTTGGTGCCGTGGGGACACTGGAAATCCTGTTCCTGCCAGCATACACGAGGAAACCTAGTGTTGAGAGTAACTGGCTTGCAGGCCTCACGCAGGGTAGTGCAGCCCAGCCCTGACGCCTGCAGGCCCCAGAGCTGAGGCCCAGCAGATACTGTGCACCCATCCCAGACTCAGCAGGCTTGTCCCGGCGGAGCTGGTTTTGAGGGCGGGCAGCAGGGAAGGCCGGGGCATGGGGTGGCTGCCCAATGCTCAGGCTGCTTGTCCCATTGTGCCCCCAGGGAGACCTGCAGGAAAAGTCCCTGGAGCATCTTCGCTTGCCGGACCGGAGCAGCCTGCTGTCCGAGATCCAGGCGCTGCGTGCCCAGCTGCGCATGACGCACCTGCAGAACCAGGAGAAGCTGCAGCACTTGCGCACGGCGCTGACAAGCGCAGAGGCGCGCGGGAGCCAGCAGGAGCACCAGCTGCGCAGGCAGGGTGGGTGTCACTGTCTACACTGCCTGGGGCCCGGCCTCTGCACCTGCCCGCCCGACACTCACCTGTGTGGCCTTGGGAGCAGAGGGTGGTGACAGGGCATCATCTAGTCAAGCCCCTGAGTGTTGCCATGGTTGTCAGCTGATAGGACTGAGCAGAAAGGACCCTGGAGACAGGCAGCGCTGGGTGGGGCTGGCACGGAGGCCTCACTCTTGGGCCTGATGTGGGCAAGAGGGGCCTGGGTTGGGCTCTGAGTGCTGGCAGATTCTTGGGAGCTCATGCTAGAGTTCAGGAATGTCTCGTAGGTTTCTACATTTAATTTAGCTTCTTCGGGAGTTTTTATGTAGATGCTCAGGTCATCTGTGGGTAAGTAACGATTTTTTGTTTCTTGCCCGTGTTCTCTCACGTGCTGTGCCGTCAGCTGTGTGGGCAGATGCCATTCCCTGCTCTTAGTTTTGGGGGCAGGAGCTGGTCTCGTACCATCGCATGTGGGGTCAGGCGCCCTTGGTCAGCTTGGGCAAGTGCCCTCTGTTCCTAGTTTTGGATTCCGTCAAGGGGAACGGCCTTGCAGTTCAGCCCACGGCCCTTGTCCCGGCGCCCATGCCCTTTGTGCTCTCTGGGGCTGGGGGCCGGCGCTGTGCACATGCTCGTGAGGGGCATGGGTGGGGCTGGCGCTGTGCAAGCGCTTGTCAGGGGCATGGGCGGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGAGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGGCACGGGCAGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGGGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGGCACAGGGGGGCCGGCACTGTGCGATCGCTCGTGAGGGGCATGGGGGTGGTGGGCCGGTGCTGTCTGAGTGCTCGTGAGGGGCACTGGTCTGTTTTCTGTTGTGCCTTTTTGGTCTTGGTGCTGGGTAGCGCCAGCCCCACGGGGTGCGGGAAGTATTTGGGAAGTAGCCCCTCCGCCCTCCGTTGTCTAGAATTGGGGTTATTTCTTCCTTAAGTTTTGGGAGAATTTTCCAGTAAAGCCACCTGGGCCTGGAGTTCCCTCTGTTGGAGGCAGTTTAGGGTGTGAGTGGGGGTGAGGTGGCATTTTTAGGATGGCCCCAGGGCTATATCACTCCTGGACTCTGTGTCTCCCGGCCAGGTGGGTGGGCCCTGGAAGGAAATGGGCCCAGAGGGCAGAATTGAGCATCCTGGTTCCACCCGCAGTGAAAGCTTCTAGTCCACAGAACCTCCTTTCTTCCCGAAGCACATACACCTCACGCCCCCACGAGTCTGTCTCTAACCTGGTGTCACTTGTGCAGCACGAGGAGCTCATGGGGGCCTGTTACTGTTCTTTTGTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGATCCATGCTGAGCAGTAAGGAGAACGAGCTGAAGGCCGCGCTTCAGGAGCTGGAGAGTGAGCAGGGGAAGGGGCGTGCCCTGCAGAGCCAGCTGGAGGAGGAGCAGCTGCGGCACCTGCAGAGGGAGAGCCAGAGTGCCAAGGCCCTGGAGGTAACAGGGTGTCAGGGCAAGGCAGCCGGCATGGGCTGTGTGCACTGGAAGCCTGAAGCCATGCTCCTCTTTCATCCTTCTTTTCCTGTTCTTCATGGCAGTGCACCCAGTTGACAGCAGTGTGACGTAGCAGGATAGGGCTGTGTTTGCAGGTAAAATTGCACCTTGGTGTAGTGGCAGCCACCACAGGGCGAAGAGTGCGATGACCCGTGGTGGCACGATACCCCTGCTCGGAGCCCCCCCCCGTCCCTGAGCACTTGCTGTGGAGATGGACACAGCCTCCTCGCTGGCATCCAGACAGAGCACAGCCTCAGAGGTCTGTGCACAAGGCAGGCTGGTGGTGGGGCCTCTGCTTTGCATGGCGGAGGCCCAGCAGGCCTGCTGTGGCTTCTGAGCAAGTCTGTGCCAGTTCCATGGGTTATGGCTTTCAACAGCATGGAAGTGGTGGTTCCTAGCAAGCTGGGTGTGTATCTCTGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGGAGAGGGGGCGGGCAGGGGACATCTCTGAATCATTTTCTGGAGAGGGACAGACTGGGAACATCTCTGAACCCAGGACTCAACACCATTTCCGAAAAAAGTATGTCATCTCCGCAGTCTGGGTTTTTTGTTACTTGATGAACTAACAAAAAAATGTTGTCCCTACATGTGGCTAATAGGGTGCATTTCAAAAGGTAGAATTGCTGGGCTAAAGTATATAAACAAATGTGGACAGGAAAACCATGTAGACACTTTTCCTCTTGATTCAGTGTCTCCCATCGTATGTGTTTGCTGTCTAGGAGCTGCGGGCGTCTTTGGAGACACAGCGTGCTCAGAGCAGTCGACTCTGCGTGGCACTGAAACACGAGCAGACGGCCAAGGACAACCTGCAGAAGGAGCTGCGTATCGAGCACTCACGCTGCGAGGCCTTGCTGGCTCAGGAGCGGAGCCAGCTCTCTGAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCCGCACCCTGGAGCTGTCAGAGGCCTTGCGGCACGAGCGGCTCCTGACCGAGCAGCTGAGCCAGAGGACACAGGAGGCTTGCGTGCACCAGGACACACAGGCCCATCACGCTCTGCTGCAGAAGCTGAAGGAGGAGAAGTCCCGGGTGGTGGACTTGCAAGCGATGCTTGAAAAGGTGCAGCAGCAAGCCCTGCATTCTCAGCAGCAGCTTGAGGCTGAGGCTCAGAAGCACTGTGAGGCGCTCAGGAGAGAGAAGGAGGTAAGTGCCACACTGAAGTCGACGGTGGAAGCCCTGCACACCCAAAAACGAGAGCTGAGATGCTCTCTGGAGAGAGAGAGGGAGAAACCAGCGTGGTTGCAGGCAGAATTAGAGCAGTCACACCCACGGTTGAAAGAGCAAGAAGGACGCAAGGCTGCGAGGAGGAGCGCGGAGGCCAGGCAGAGCCCAGCGGCTGCGGAGCAGTGGAGGAAGTGGCAGAGAGACAA
|
CTGGGTGGCGTTGGTGCCGTGGGGACACTGGAAATCCTGTTCCTGCCAGCATACACGAGGAAACCTAGTGTTGAGAGTAACTGGCTTGCAGGCCTCACGCAGGGTAGTGCAGCCCAGCCCTGACGCCTGCAGGCCCCAGAGCTGAGGCCCAGCAGATACTGTGCACCCATCCCAGACTCAGCAGGCTTGTCCCGGCGGAGCTGGTTTTGAGGGCGGGCAGCAGGGAAGGCCGGGGCATGGGGTGGCTGCCCAATGCTCAGGCTGCTTGTCCCATTGTGCCCCCAGGGAGACCTGCAGGAAAAGTCCCTGGAGCATCTTCGCTTGCCGGACCGGAGCAGCCTGCTGTCCGAGATCCAGGCGCTGCGTGCCCAGCTGCGCATGACGCACCTGCAGAACCAGGAGAAGCTGCAGCACTTGCGCACGGCGCTGACAAGCGCAGAGGCGCGCGGGAGCCAGCAGGAGCACCAGCTGCGCAGGCAGGGTGGGTGTCACTGTCTACACTGCCTGGGGCCCGGCCTCTGCACCTGCCCGCCCGACACTCACCTGTGTGGCCTTGGGAGCAGAGGGTGGTGACAGGGCATCATCTAGTCAAGCCCCTGAGTGTTGCCATGGTTGTCAGCTGATAGGACTGAGCAGAAAGGACCCTGGAGACAGGCAGCGCTGGGTGGGGCTGGCACGGAGGCCTCACTCTTGGGCCTGATGTGGGCAAGAGGGGCCTGGGTTGGGCTCTGAGTGCTGGCAGATTCTTGGGAGCTCATGCTAGAGTTCAGGAATGTCTCGTAGGTTTCTACATTTAATTTAGCTTCTTCGGGAGTTTTTATGTAGATGCTCAGGTCATCTGTGGGTAAGTAACGATTTTTTGTTTCTTGCCCGTGTTCTCTCACGTGCTGTGCCGTCAGCTGTGTGGGCAGATGCCATTCCCTGCTCTTAGTTTTGGGGGCAGGAGCTGGTCTCGTACCATCGCATGTGGGGTCAGGCGCCCTTGGTCAGCTTGGGCAAGTGCCCTCTGTTCCTAGTTTTGGATTCCGTCAAGGGGAACGGCCTTGCAGTTCAGCCCACGGCCCTTGTCCCGGCGCCCATGCCCTTTGTGCTCTCTGGGGCTGGGGGCCGGCGCTGTGCACATGCTCGTGAGGGGCATGGGTGGGGCTGGCGCTGTGCAAGCGCTTGTCAGGGGCATGGGCGGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGAGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGGCACGGGCAGGGGGTGCCGGCGCTGTGCGAGCGCTCGTGAGGGGCATGGGGGGGCTGGCGCTGTGCACGTGCTCGTGAGGGGCACAGGGGGGCCGGCACTGTGCGATCGCTCGTGAGGGGCATGGGGGTGGTGGGCCGGTGCTGTCTGAGTGCTCGTGAGGGGCACTGGTCTGTTTTCTGTTGTGCCTTTTTGGTCTTGGTGCTGGGTAGCGCCAGCCCCACGGGGTGCGGGAAGTATTTGGGAAGTAGCCCCTCCGCCCTCCGTTGTCTAGAATTGGGGTTATTTCTTCCTTAAGTTTTGGGAGAATTTTCCAGTAAAGCCACCTGGGCCTGGAGTTCCCTCTGTTGGAGGCAGTTTAGGGTGTGAGTGGGGGTGAGGTGGCATTTTTAGGATGGCCCCAGGGCTATATCACTCCTGGACTCTGTGTCTCCCGGCCAGGTGGGTGGGCCCTGGAAGGAAATGGGCCCAGAGGGCAGAATTGAGCATCCTGGTTCCACCCGCAGTGAAAGCTTCTAGTCCACAGAACCTCCTTTCTTCCCGAAGCACATACACCTCACGCCCCCACGAGTCTGTCTCTAACCTGGTGTCACTTGTGCAGCACGAGGAGCTCATGGGGGCCTGTTACTGTTCTTTTGTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGATCCATGCTGAGCAGTAAGGAGAACGAGCTGAAGGCCGCGCTTCAGGAGCTGGAGAGTGAGCAGGGGAAGGGGCGTGCCCTGCAGAGCCAGCTGGAGGAGGAGCAGCTGCGGCACCTGCAGAGGGAGAGCCAGAGTGCCAAGGCCCTGGAGGTAACAGGGTGTCAGGGCAAGGCAGCCGGCATGGGCTGTGTGCACTGGAAGCCTGAAGCCATGCTCCTCTTTCATCCTTCTTTTCCTGTTCTTCATGGCAGTGCACCCAGTTGACAGCAGTGTGACGTAGCAGGATAGGGCTGTGTTTGCAGGTAAAATTGCACCTTGGTGTAGTGGCAGCCACCACAGGGCGAAGAGTGCGATGACCCGTGGTGGCACGATACCCCTGCTCGGAGCCCCCCCCCGTCCCTGAGCACTTGCTGTGGAGATGGACACAGCCTCCTCGCTGGCATCCAGACAGAGCACAGCCTCAGAGGTCTGTGCACAAGGCAGGCTGGTGGTGGGGCCTCTGCTTTGCATGGCGGAGGCCCAGCAGGCCTGCTGTGGCTTCTGAGCAAGTCTGTGCCAGTTCCATGGGTTATGGCTTTCAACAGCATGGAAGTGGTGGTTCCTAGCAAGCTGGGTGTGTATCTCTGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGGAGAGGGGGCGGGCAGGGGACATCTCTGAATCATTTTCTGGAGAGGGACAGACTGGGAACATCTCTGAACCCAGGACTCAACACCATTTCCGAAAAAAGTATGTCATCTCCGCAGTCTGGGTTTTTTGTTACTTGATGAACTAACAAAAAAATGTTGTCCCTACATGTGGCTAATAGGGTGCATTTCAAAAGGTAGAATTGCTGGGCTAAAGTATATAAACAAATGTGGACAGGAAAACCATGTAGACACTTTTCCTCTTGATTCAGTGTCTCCCATCGTATGTGTTTGCTGTCTAGGAGCTGCGGGCGTCTTTGGAGACACAGCGTGCTCAGAGCAGTCGACTCTGCGTGGCACTGAAACACGAGCAGACGGCCAAGGACAACCTGCAGAAGGAGCTGCGTATCGAGCACTCACGCTGCGAGGCCTTGCTGGCTCAGGAGCGGAGCCAGCTCTCTGAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCCGCACCCTGGAGCTGTCAGAGGCCTTGCGGCACGAGCGGCTCCTGACCGAGCAGCTGAGCCAGAGGACACAGGAGGCTTGCGTGCACCAGGACACACAGGCCCATCACGCTCTGCTGCAGAAGCTGAAGGAGGAGAAGTCCCGGGTGGTGGACTTGCAAGCGATGCTTGAAAAGGTGCAGCAGCAAGCCCTGCATTCTCAGCAGCAGCTTGAGGCTGAGGCTCAGAAGCACTGTGAGGCGCTCAGGAGAGAGAAGGAGGTAAGTGCCACACTGAAGTCGACGGTGGAAGCCCTGCACACCCAAAAACGAGAGCTGAGATGCTCTCTGGAGAGAGAGAGGGAGAAACCAGCGTGGTTGCAGGCAGAATTAGAGCAGTCACACCCACGGTTGAAAGAGCAAGAAGGACGCAAGGCTGCGAGGAGGAGCGCGGAGGCCAGGCAGAGCCCAGCGGCTGCGGAGCAGTGGAGGAAGTGGCAGAGAGACAANN
|
pathogenic
| 321,559 |
Does the chromosome 21 mutation at position 46432047 within gene PCNT (pericentrin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['PCNT-related_disorder']
|
GTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGATCCATGCTGAGCAGTAAGGAGAACGAGCTGAAGGCCGCGCTTCAGGAGCTGGAGAGTGAGCAGGGGAAGGGGCGTGCCCTGCAGAGCCAGCTGGAGGAGGAGCAGCTGCGGCACCTGCAGAGGGAGAGCCAGAGTGCCAAGGCCCTGGAGGTAACAGGGTGTCAGGGCAAGGCAGCCGGCATGGGCTGTGTGCACTGGAAGCCTGAAGCCATGCTCCTCTTTCATCCTTCTTTTCCTGTTCTTCATGGCAGTGCACCCAGTTGACAGCAGTGTGACGTAGCAGGATAGGGCTGTGTTTGCAGGTAAAATTGCACCTTGGTGTAGTGGCAGCCACCACAGGGCGAAGAGTGCGATGACCCGTGGTGGCACGATACCCCTGCTCGGAGCCCCCCCCCGTCCCTGAGCACTTGCTGTGGAGATGGACACAGCCTCCTCGCTGGCATCCAGACAGAGCACAGCCTCAGAGGTCTGTGCACAAGGCAGGCTGGTGGTGGGGCCTCTGCTTTGCATGGCGGAGGCCCAGCAGGCCTGCTGTGGCTTCTGAGCAAGTCTGTGCCAGTTCCATGGGTTATGGCTTTCAACAGCATGGAAGTGGTGGTTCCTAGCAAGCTGGGTGTGTATCTCTGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGGAGAGGGGGCGGGCAGGGGACATCTCTGAATCATTTTCTGGAGAGGGACAGACTGGGAACATCTCTGAACCCAGGACTCAACACCATTTCCGAAAAAAGTATGTCATCTCCGCAGTCTGGGTTTTTTGTTACTTGATGAACTAACAAAAAAATGTTGTCCCTACATGTGGCTAATAGGGTGCATTTCAAAAGGTAGAATTGCTGGGCTAAAGTATATAAACAAATGTGGACAGGAAAACCATGTAGACACTTTTCCTCTTGATTCAGTGTCTCCCATCGTATGTGTTTGCTGTCTAGGAGCTGCGGGCGTCTTTGGAGACACAGCGTGCTCAGAGCAGTCGACTCTGCGTGGCACTGAAACACGAGCAGACGGCCAAGGACAACCTGCAGAAGGAGCTGCGTATCGAGCACTCACGCTGCGAGGCCTTGCTGGCTCAGGAGCGGAGCCAGCTCTCTGAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCCGCACCCTGGAGCTGTCAGAGGCCTTGCGGCACGAGCGGCTCCTGACCGAGCAGCTGAGCCAGAGGACACAGGAGGCTTGCGTGCACCAGGACACACAGGCCCATCACGCTCTGCTGCAGAAGCTGAAGGAGGAGAAGTCCCGGGTGGTGGACTTGCAAGCGATGCTTGAAAAGGTGCAGCAGCAAGCCCTGCATTCTCAGCAGCAGCTTGAGGCTGAGGCTCAGAAGCACTGTGAGGCGCTCAGGAGAGAGAAGGAGGTAAGTGCCACACTGAAGTCGACGGTGGAAGCCCTGCACACCCAAAAACGAGAGCTGAGATGCTCTCTGGAGAGAGAGAGGGAGAAACCAGCGTGGTTGCAGGCAGAATTAGAGCAGTCACACCCACGGTTGAAAGAGCAAGAAGGACGCAAGGCTGCGAGGAGGAGCGCGGAGGCCAGGCAGAGCCCAGCGGCTGCGGAGCAGTGGAGGAAGTGGCAGAGAGACAAGGAGAAGCTGGTGAGAGCCGCCTGCCGGCGGAGCGTCCACACCTAAAAACGATAAGCAATTGGAGTTAGGATGGTTCACGTGGGGGACGCGAGATTTATGTCTGGCCCTCTGACCTGGTCTGCTCTGGTCTGTGTGCCCTGACGCTGGCACCACACTGCTGTTACTGTAGCTTTCTAGAAAGTATTGAAATCAGGAAGTGTGAGTTCTCCAACTTCGTTCTTCCTCTTCAAGATAGTTTCAGCTCTGTGGGGCTTCTTGCTATTCCACAGGAATTTGAGGATTGGTGTTTGTATTTCTGCAGAACCTGCCACTGGGATTTTCTTAGGGATGGCATTAAATGTGCTGATTGCTCTGGGTAGTATTGACATCTGGACAGTGTGAGGTCTTTTGATCCACGATTACAGAATGTGTCTCTTCATTTAATTAGGATTTTTTTGAGATAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGATGTGATCTCAGCTCACTGCAGTCGCCGCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCACGTAGCTGGGACTGCAGGCACATGCCACCACGCCTGGCTAATTTTTGGATTAGTAGAGACAGGGTTTTCCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTGGGCCTCTCAGACTGCTGGGATTACAGGCGTCAGCCACCACACTCGGCTGTTTACTTAGGCCTTCTTTAGTTTCTTTCAGTAGTGTTTCATTGCTTTCAAAATATAAGTTTTATACTTTTGTTAAATTTATTTACTTATTTATTTTTTGAGATGGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGCACGAACTCAACAATGTTGAATAGAAGGGATGAGAGCAGGCCGGGCACGGTGGCCGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCGAAAGCCCATTTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGTGTGCACCTGTAATCCCAGCTATTCGGGAGGCTGGGGCAGGAGAATTGCTTGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGGGATTGCACCGCTGCACTTCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAAAAACAAAAACACTCTTTGGAATAGTCGTAGTTTTTTTTATCTCCAGAAGCCTTGGAGAGTAGGGAGGTGGTTTGGTGGTACAGACAGTGTGGCCAAGCATGGCAGGGGCGTCTACACAGGACCCCAGCTGAGGGTGAGACGTGGTGTGTGTGTTTGCCTTTCTCCTGGGCAAGAGCTCATCCTTTGATGGAATGCTCAAAGGAGTCTTTACTTTTTGAGAACTTCCTGAAACCACGCCTGAAGTTGCCAGCCAAAACCTTTAATTTTGATTGTTTCTTAAAAAAAATAGTAACATGAGTGCTTAGAAAATATTTTCTAAGTTGCTTGCTTCAGGATGCATCTTGACCTGTATTTTGAGTGAGGTGGCCCTTCCAGAGTGATTTATTTATTAATTTTTTTTTTGAGGTAGAGTCTCGCTCTGTCTTCCAAGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGTCACCACGCCCAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTAC
|
GTCTTTCTCAGTTGAACTGCTGGCTTATAAAGTAGAGCAGGAGAAGTGCATTGCTGGTGACTTGCAGAAGACGCTGAGTGAAGAGCAAGAGAAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGATCCATGCTGAGCAGTAAGGAGAACGAGCTGAAGGCCGCGCTTCAGGAGCTGGAGAGTGAGCAGGGGAAGGGGCGTGCCCTGCAGAGCCAGCTGGAGGAGGAGCAGCTGCGGCACCTGCAGAGGGAGAGCCAGAGTGCCAAGGCCCTGGAGGTAACAGGGTGTCAGGGCAAGGCAGCCGGCATGGGCTGTGTGCACTGGAAGCCTGAAGCCATGCTCCTCTTTCATCCTTCTTTTCCTGTTCTTCATGGCAGTGCACCCAGTTGACAGCAGTGTGACGTAGCAGGATAGGGCTGTGTTTGCAGGTAAAATTGCACCTTGGTGTAGTGGCAGCCACCACAGGGCGAAGAGTGCGATGACCCGTGGTGGCACGATACCCCTGCTCGGAGCCCCCCCCCGTCCCTGAGCACTTGCTGTGGAGATGGACACAGCCTCCTCGCTGGCATCCAGACAGAGCACAGCCTCAGAGGTCTGTGCACAAGGCAGGCTGGTGGTGGGGCCTCTGCTTTGCATGGCGGAGGCCCAGCAGGCCTGCTGTGGCTTCTGAGCAAGTCTGTGCCAGTTCCATGGGTTATGGCTTTCAACAGCATGGAAGTGGTGGTTCCTAGCAAGCTGGGTGTGTATCTCTGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGGAGAGGGGGCGGGCAGGGGACATCTCTGAATCATTTTCTGGAGAGGGACAGACTGGGAACATCTCTGAACCCAGGACTCAACACCATTTCCGAAAAAAGTATGTCATCTCCGCAGTCTGGGTTTTTTGTTACTTGATGAACTAACAAAAAAATGTTGTCCCTACATGTGGCTAATAGGGTGCATTTCAAAAGGTAGAATTGCTGGGCTAAAGTATATAAACAAATGTGGACAGGAAAACCATGTAGACACTTTTCCTCTTGATTCAGTGTCTCCCATCGTATGTGTTTGCTGTCTAGGAGCTGCGGGCGTCTTTGGAGACACAGCGTGCTCAGAGCAGTCGACTCTGCGTGGCACTGAAACACGAGCAGACGGCCAAGGACAACCTGCAGAAGGAGCTGCGTATCGAGCACTCACGCTGCGAGGCCTTGCTGGCTCAGGAGCGGAGCCAGCTCTCTGAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCCGCACCCTGGAGCTGTCAGAGGCCTTGCGGCACGAGCGGCTCCTGACCGAGCAGCTGAGCCAGAGGACACAGGAGGCTTGCGTGCACCAGGACACACAGGCCCATCACGCTCTGCTGCAGAAGCTGAAGGAGGAGAAGTCCCGGGTGGTGGACTTGCAAGCGATGCTTGAAAAGGTGCAGCAGCAAGCCCTGCATTCTCAGCAGCAGCTTGAGGCTGAGGCTCAGAAGCACTGTGAGGCGCTCAGGAGAGAGAAGGAGGTAAGTGCCACACTGAAGTCGACGGTGGAAGCCCTGCACACCCAAAAACGAGAGCTGAGATGCTCTCTGGAGAGAGAGGGAGAAACCAGCGTGGTTGCAGGCAGAATTAGAGCAGTCACACCCACGGTTGAAAGAGCAAGAAGGACGCAAGGCTGCGAGGAGGAGCGCGGAGGCCAGGCAGAGCCCAGCGGCTGCGGAGCAGTGGAGGAAGTGGCAGAGAGACAAGGAGAAGCTGGTGAGAGCCGCCTGCCGGCGGAGCGTCCACACCTAAAAACGATAAGCAATTGGAGTTAGGATGGTTCACGTGGGGGACGCGAGATTTATGTCTGGCCCTCTGACCTGGTCTGCTCTGGTCTGTGTGCCCTGACGCTGGCACCACACTGCTGTTACTGTAGCTTTCTAGAAAGTATTGAAATCAGGAAGTGTGAGTTCTCCAACTTCGTTCTTCCTCTTCAAGATAGTTTCAGCTCTGTGGGGCTTCTTGCTATTCCACAGGAATTTGAGGATTGGTGTTTGTATTTCTGCAGAACCTGCCACTGGGATTTTCTTAGGGATGGCATTAAATGTGCTGATTGCTCTGGGTAGTATTGACATCTGGACAGTGTGAGGTCTTTTGATCCACGATTACAGAATGTGTCTCTTCATTTAATTAGGATTTTTTTGAGATAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGATGTGATCTCAGCTCACTGCAGTCGCCGCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCACGTAGCTGGGACTGCAGGCACATGCCACCACGCCTGGCTAATTTTTGGATTAGTAGAGACAGGGTTTTCCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTGGGCCTCTCAGACTGCTGGGATTACAGGCGTCAGCCACCACACTCGGCTGTTTACTTAGGCCTTCTTTAGTTTCTTTCAGTAGTGTTTCATTGCTTTCAAAATATAAGTTTTATACTTTTGTTAAATTTATTTACTTATTTATTTTTTGAGATGGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGCACGAACTCAACAATGTTGAATAGAAGGGATGAGAGCAGGCCGGGCACGGTGGCCGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCGAAAGCCCATTTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGTGTGCACCTGTAATCCCAGCTATTCGGGAGGCTGGGGCAGGAGAATTGCTTGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGGGATTGCACCGCTGCACTTCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAAAAACAAAAACACTCTTTGGAATAGTCGTAGTTTTTTTTATCTCCAGAAGCCTTGGAGAGTAGGGAGGTGGTTTGGTGGTACAGACAGTGTGGCCAAGCATGGCAGGGGCGTCTACACAGGACCCCAGCTGAGGGTGAGACGTGGTGTGTGTGTTTGCCTTTCTCCTGGGCAAGAGCTCATCCTTTGATGGAATGCTCAAAGGAGTCTTTACTTTTTGAGAACTTCCTGAAACCACGCCTGAAGTTGCCAGCCAAAACCTTTAATTTTGATTGTTTCTTAAAAAAAATAGTAACATGAGTGCTTAGAAAATATTTTCTAAGTTGCTTGCTTCAGGATGCATCTTGACCTGTATTTTGAGTGAGGTGGCCCTTCCAGAGTGATTTATTTATTAATTTTTTTTTTGAGGTAGAGTCTCGCTCTGTCTTCCAAGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGTCACCACGCCCAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTACNN
|
pathogenic
| 321,581 |
The genetic variant at chromosome 21, position 46432138, affecting gene PCNT (pericentrin): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
AAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGATCCATGCTGAGCAGTAAGGAGAACGAGCTGAAGGCCGCGCTTCAGGAGCTGGAGAGTGAGCAGGGGAAGGGGCGTGCCCTGCAGAGCCAGCTGGAGGAGGAGCAGCTGCGGCACCTGCAGAGGGAGAGCCAGAGTGCCAAGGCCCTGGAGGTAACAGGGTGTCAGGGCAAGGCAGCCGGCATGGGCTGTGTGCACTGGAAGCCTGAAGCCATGCTCCTCTTTCATCCTTCTTTTCCTGTTCTTCATGGCAGTGCACCCAGTTGACAGCAGTGTGACGTAGCAGGATAGGGCTGTGTTTGCAGGTAAAATTGCACCTTGGTGTAGTGGCAGCCACCACAGGGCGAAGAGTGCGATGACCCGTGGTGGCACGATACCCCTGCTCGGAGCCCCCCCCCGTCCCTGAGCACTTGCTGTGGAGATGGACACAGCCTCCTCGCTGGCATCCAGACAGAGCACAGCCTCAGAGGTCTGTGCACAAGGCAGGCTGGTGGTGGGGCCTCTGCTTTGCATGGCGGAGGCCCAGCAGGCCTGCTGTGGCTTCTGAGCAAGTCTGTGCCAGTTCCATGGGTTATGGCTTTCAACAGCATGGAAGTGGTGGTTCCTAGCAAGCTGGGTGTGTATCTCTGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGGAGAGGGGGCGGGCAGGGGACATCTCTGAATCATTTTCTGGAGAGGGACAGACTGGGAACATCTCTGAACCCAGGACTCAACACCATTTCCGAAAAAAGTATGTCATCTCCGCAGTCTGGGTTTTTTGTTACTTGATGAACTAACAAAAAAATGTTGTCCCTACATGTGGCTAATAGGGTGCATTTCAAAAGGTAGAATTGCTGGGCTAAAGTATATAAACAAATGTGGACAGGAAAACCATGTAGACACTTTTCCTCTTGATTCAGTGTCTCCCATCGTATGTGTTTGCTGTCTAGGAGCTGCGGGCGTCTTTGGAGACACAGCGTGCTCAGAGCAGTCGACTCTGCGTGGCACTGAAACACGAGCAGACGGCCAAGGACAACCTGCAGAAGGAGCTGCGTATCGAGCACTCACGCTGCGAGGCCTTGCTGGCTCAGGAGCGGAGCCAGCTCTCTGAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCCGCACCCTGGAGCTGTCAGAGGCCTTGCGGCACGAGCGGCTCCTGACCGAGCAGCTGAGCCAGAGGACACAGGAGGCTTGCGTGCACCAGGACACACAGGCCCATCACGCTCTGCTGCAGAAGCTGAAGGAGGAGAAGTCCCGGGTGGTGGACTTGCAAGCGATGCTTGAAAAGGTGCAGCAGCAAGCCCTGCATTCTCAGCAGCAGCTTGAGGCTGAGGCTCAGAAGCACTGTGAGGCGCTCAGGAGAGAGAAGGAGGTAAGTGCCACACTGAAGTCGACGGTGGAAGCCCTGCACACCCAAAAACGAGAGCTGAGATGCTCTCTGGAGAGAGAGAGGGAGAAACCAGCGTGGTTGCAGGCAGAATTAGAGCAGTCACACCCACGGTTGAAAGAGCAAGAAGGACGCAAGGCTGCGAGGAGGAGCGCGGAGGCCAGGCAGAGCCCAGCGGCTGCGGAGCAGTGGAGGAAGTGGCAGAGAGACAAGGAGAAGCTGGTGAGAGCCGCCTGCCGGCGGAGCGTCCACACCTAAAAACGATAAGCAATTGGAGTTAGGATGGTTCACGTGGGGGACGCGAGATTTATGTCTGGCCCTCTGACCTGGTCTGCTCTGGTCTGTGTGCCCTGACGCTGGCACCACACTGCTGTTACTGTAGCTTTCTAGAAAGTATTGAAATCAGGAAGTGTGAGTTCTCCAACTTCGTTCTTCCTCTTCAAGATAGTTTCAGCTCTGTGGGGCTTCTTGCTATTCCACAGGAATTTGAGGATTGGTGTTTGTATTTCTGCAGAACCTGCCACTGGGATTTTCTTAGGGATGGCATTAAATGTGCTGATTGCTCTGGGTAGTATTGACATCTGGACAGTGTGAGGTCTTTTGATCCACGATTACAGAATGTGTCTCTTCATTTAATTAGGATTTTTTTGAGATAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGATGTGATCTCAGCTCACTGCAGTCGCCGCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCACGTAGCTGGGACTGCAGGCACATGCCACCACGCCTGGCTAATTTTTGGATTAGTAGAGACAGGGTTTTCCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTGGGCCTCTCAGACTGCTGGGATTACAGGCGTCAGCCACCACACTCGGCTGTTTACTTAGGCCTTCTTTAGTTTCTTTCAGTAGTGTTTCATTGCTTTCAAAATATAAGTTTTATACTTTTGTTAAATTTATTTACTTATTTATTTTTTGAGATGGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGCACGAACTCAACAATGTTGAATAGAAGGGATGAGAGCAGGCCGGGCACGGTGGCCGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCGAAAGCCCATTTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGTGTGCACCTGTAATCCCAGCTATTCGGGAGGCTGGGGCAGGAGAATTGCTTGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGGGATTGCACCGCTGCACTTCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAAAAACAAAAACACTCTTTGGAATAGTCGTAGTTTTTTTTATCTCCAGAAGCCTTGGAGAGTAGGGAGGTGGTTTGGTGGTACAGACAGTGTGGCCAAGCATGGCAGGGGCGTCTACACAGGACCCCAGCTGAGGGTGAGACGTGGTGTGTGTGTTTGCCTTTCTCCTGGGCAAGAGCTCATCCTTTGATGGAATGCTCAAAGGAGTCTTTACTTTTTGAGAACTTCCTGAAACCACGCCTGAAGTTGCCAGCCAAAACCTTTAATTTTGATTGTTTCTTAAAAAAAATAGTAACATGAGTGCTTAGAAAATATTTTCTAAGTTGCTTGCTTCAGGATGCATCTTGACCTGTATTTTGAGTGAGGTGGCCCTTCCAGAGTGATTTATTTATTAATTTTTTTTTTGAGGTAGAGTCTCGCTCTGTCTTCCAAGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGTCACCACGCCCAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTACTGAGGATAGTGAATTTGATCTGGATTATAGAACCCTTCTCTAGCTGTAGCCATGGAAGCCTCCCAAGATAGTGGCATGCTGGATACAATTC
|
AAGGCAAACAGCGTGCAGAAGCTCCTGGCGGCGGAGCAGACTGTAGTGCGAGATTTGAAGTCCGACCTCTGTGAGAGCAGGCAGAAGAGCGAACAGCTGTCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGATCCATGCTGAGCAGTAAGGAGAACGAGCTGAAGGCCGCGCTTCAGGAGCTGGAGAGTGAGCAGGGGAAGGGGCGTGCCCTGCAGAGCCAGCTGGAGGAGGAGCAGCTGCGGCACCTGCAGAGGGAGAGCCAGAGTGCCAAGGCCCTGGAGGTAACAGGGTGTCAGGGCAAGGCAGCCGGCATGGGCTGTGTGCACTGGAAGCCTGAAGCCATGCTCCTCTTTCATCCTTCTTTTCCTGTTCTTCATGGCAGTGCACCCAGTTGACAGCAGTGTGACGTAGCAGGATAGGGCTGTGTTTGCAGGTAAAATTGCACCTTGGTGTAGTGGCAGCCACCACAGGGCGAAGAGTGCGATGACCCGTGGTGGCACGATACCCCTGCTCGGAGCCCCCCCCCGTCCCTGAGCACTTGCTGTGGAGATGGACACAGCCTCCTCGCTGGCATCCAGACAGAGCACAGCCTCAGAGGTCTGTGCACAAGGCAGGCTGGTGGTGGGGCCTCTGCTTTGCATGGCGGAGGCCCAGCAGGCCTGCTGTGGCTTCTGAGCAAGTCTGTGCCAGTTCCATGGGTTATGGCTTTCAACAGCATGGAAGTGGTGGTTCCTAGCAAGCTGGGTGTGTATCTCTGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGGAGAGGGGGCGGGCAGGGGACATCTCTGAATCATTTTCTGGAGAGGGACAGACTGGGAACATCTCTGAACCCAGGACTCAACACCATTTCCGAAAAAAGTATGTCATCTCCGCAGTCTGGGTTTTTTGTTACTTGATGAACTAACAAAAAAATGTTGTCCCTACATGTGGCTAATAGGGTGCATTTCAAAAGGTAGAATTGCTGGGCTAAAGTATATAAACAAATGTGGACAGGAAAACCATGTAGACACTTTTCCTCTTGATTCAGTGTCTCCCATCGTATGTGTTTGCTGTCTAGGAGCTGCGGGCGTCTTTGGAGACACAGCGTGCTCAGAGCAGTCGACTCTGCGTGGCACTGAAACACGAGCAGACGGCCAAGGACAACCTGCAGAAGGAGCTGCGTATCGAGCACTCACGCTGCGAGGCCTTGCTGGCTCAGGAGCGGAGCCAGCTCTCTGAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCCGCACCCTGGAGCTGTCAGAGGCCTTGCGGCACGAGCGGCTCCTGACCGAGCAGCTGAGCCAGAGGACACAGGAGGCTTGCGTGCACCAGGACACACAGGCCCATCACGCTCTGCTGCAGAAGCTGAAGGAGGAGAAGTCCCGGGTGGTGGACTTGCAAGCGATGCTTGAAAAGGTGCAGCAGCAAGCCCTGCATTCTCAGCAGCAGCTTGAGGCTGAGGCTCAGAAGCACTGTGAGGCGCTCAGGAGAGAGAAGGAGGTAAGTGCCACACTGAAGTCGACGGTGGAAGCCCTGCACACCCAAAAACGAGAGCTGAGATGCTCTCTGGAGAGAGAGAGGGAGAAACCAGCGTGGTTGCAGGCAGAATTAGAGCAGTCACACCCACGGTTGAAAGAGCAAGAAGGACGCAAGGCTGCGAGGAGGCCAGGCAGAGCCCAGCGGCTGCGGAGCAGTGGAGGAAGTGGCAGAGAGACAAGGAGAAGCTGGTGAGAGCCGCCTGCCGGCGGAGCGTCCACACCTAAAAACGATAAGCAATTGGAGTTAGGATGGTTCACGTGGGGGACGCGAGATTTATGTCTGGCCCTCTGACCTGGTCTGCTCTGGTCTGTGTGCCCTGACGCTGGCACCACACTGCTGTTACTGTAGCTTTCTAGAAAGTATTGAAATCAGGAAGTGTGAGTTCTCCAACTTCGTTCTTCCTCTTCAAGATAGTTTCAGCTCTGTGGGGCTTCTTGCTATTCCACAGGAATTTGAGGATTGGTGTTTGTATTTCTGCAGAACCTGCCACTGGGATTTTCTTAGGGATGGCATTAAATGTGCTGATTGCTCTGGGTAGTATTGACATCTGGACAGTGTGAGGTCTTTTGATCCACGATTACAGAATGTGTCTCTTCATTTAATTAGGATTTTTTTGAGATAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGATGTGATCTCAGCTCACTGCAGTCGCCGCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCACGTAGCTGGGACTGCAGGCACATGCCACCACGCCTGGCTAATTTTTGGATTAGTAGAGACAGGGTTTTCCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTGGGCCTCTCAGACTGCTGGGATTACAGGCGTCAGCCACCACACTCGGCTGTTTACTTAGGCCTTCTTTAGTTTCTTTCAGTAGTGTTTCATTGCTTTCAAAATATAAGTTTTATACTTTTGTTAAATTTATTTACTTATTTATTTTTTGAGATGGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGCACGAACTCAACAATGTTGAATAGAAGGGATGAGAGCAGGCCGGGCACGGTGGCCGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCGAAAGCCCATTTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGTGTGCACCTGTAATCCCAGCTATTCGGGAGGCTGGGGCAGGAGAATTGCTTGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGGGATTGCACCGCTGCACTTCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAAAAACAAAAACACTCTTTGGAATAGTCGTAGTTTTTTTTATCTCCAGAAGCCTTGGAGAGTAGGGAGGTGGTTTGGTGGTACAGACAGTGTGGCCAAGCATGGCAGGGGCGTCTACACAGGACCCCAGCTGAGGGTGAGACGTGGTGTGTGTGTTTGCCTTTCTCCTGGGCAAGAGCTCATCCTTTGATGGAATGCTCAAAGGAGTCTTTACTTTTTGAGAACTTCCTGAAACCACGCCTGAAGTTGCCAGCCAAAACCTTTAATTTTGATTGTTTCTTAAAAAAAATAGTAACATGAGTGCTTAGAAAATATTTTCTAAGTTGCTTGCTTCAGGATGCATCTTGACCTGTATTTTGAGTGAGGTGGCCCTTCCAGAGTGATTTATTTATTAATTTTTTTTTTGAGGTAGAGTCTCGCTCTGTCTTCCAAGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGTCACCACGCCCAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTACTGAGGATAGTGAATTTGATCTGGATTATAGAACCCTTCTCTAGCTGTAGCCATGGAAGCCTCCCAAGATAGTGGCATGCTGGATACAATTCNNNNNNNNNN
|
pathogenic
| 321,584 |
The mutation impacting PCNT (pericentrin) on chromosome 21 at position 46432237: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
TCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGATCCATGCTGAGCAGTAAGGAGAACGAGCTGAAGGCCGCGCTTCAGGAGCTGGAGAGTGAGCAGGGGAAGGGGCGTGCCCTGCAGAGCCAGCTGGAGGAGGAGCAGCTGCGGCACCTGCAGAGGGAGAGCCAGAGTGCCAAGGCCCTGGAGGTAACAGGGTGTCAGGGCAAGGCAGCCGGCATGGGCTGTGTGCACTGGAAGCCTGAAGCCATGCTCCTCTTTCATCCTTCTTTTCCTGTTCTTCATGGCAGTGCACCCAGTTGACAGCAGTGTGACGTAGCAGGATAGGGCTGTGTTTGCAGGTAAAATTGCACCTTGGTGTAGTGGCAGCCACCACAGGGCGAAGAGTGCGATGACCCGTGGTGGCACGATACCCCTGCTCGGAGCCCCCCCCCGTCCCTGAGCACTTGCTGTGGAGATGGACACAGCCTCCTCGCTGGCATCCAGACAGAGCACAGCCTCAGAGGTCTGTGCACAAGGCAGGCTGGTGGTGGGGCCTCTGCTTTGCATGGCGGAGGCCCAGCAGGCCTGCTGTGGCTTCTGAGCAAGTCTGTGCCAGTTCCATGGGTTATGGCTTTCAACAGCATGGAAGTGGTGGTTCCTAGCAAGCTGGGTGTGTATCTCTGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGGAGAGGGGGCGGGCAGGGGACATCTCTGAATCATTTTCTGGAGAGGGACAGACTGGGAACATCTCTGAACCCAGGACTCAACACCATTTCCGAAAAAAGTATGTCATCTCCGCAGTCTGGGTTTTTTGTTACTTGATGAACTAACAAAAAAATGTTGTCCCTACATGTGGCTAATAGGGTGCATTTCAAAAGGTAGAATTGCTGGGCTAAAGTATATAAACAAATGTGGACAGGAAAACCATGTAGACACTTTTCCTCTTGATTCAGTGTCTCCCATCGTATGTGTTTGCTGTCTAGGAGCTGCGGGCGTCTTTGGAGACACAGCGTGCTCAGAGCAGTCGACTCTGCGTGGCACTGAAACACGAGCAGACGGCCAAGGACAACCTGCAGAAGGAGCTGCGTATCGAGCACTCACGCTGCGAGGCCTTGCTGGCTCAGGAGCGGAGCCAGCTCTCTGAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCCGCACCCTGGAGCTGTCAGAGGCCTTGCGGCACGAGCGGCTCCTGACCGAGCAGCTGAGCCAGAGGACACAGGAGGCTTGCGTGCACCAGGACACACAGGCCCATCACGCTCTGCTGCAGAAGCTGAAGGAGGAGAAGTCCCGGGTGGTGGACTTGCAAGCGATGCTTGAAAAGGTGCAGCAGCAAGCCCTGCATTCTCAGCAGCAGCTTGAGGCTGAGGCTCAGAAGCACTGTGAGGCGCTCAGGAGAGAGAAGGAGGTAAGTGCCACACTGAAGTCGACGGTGGAAGCCCTGCACACCCAAAAACGAGAGCTGAGATGCTCTCTGGAGAGAGAGAGGGAGAAACCAGCGTGGTTGCAGGCAGAATTAGAGCAGTCACACCCACGGTTGAAAGAGCAAGAAGGACGCAAGGCTGCGAGGAGGAGCGCGGAGGCCAGGCAGAGCCCAGCGGCTGCGGAGCAGTGGAGGAAGTGGCAGAGAGACAAGGAGAAGCTGGTGAGAGCCGCCTGCCGGCGGAGCGTCCACACCTAAAAACGATAAGCAATTGGAGTTAGGATGGTTCACGTGGGGGACGCGAGATTTATGTCTGGCCCTCTGACCTGGTCTGCTCTGGTCTGTGTGCCCTGACGCTGGCACCACACTGCTGTTACTGTAGCTTTCTAGAAAGTATTGAAATCAGGAAGTGTGAGTTCTCCAACTTCGTTCTTCCTCTTCAAGATAGTTTCAGCTCTGTGGGGCTTCTTGCTATTCCACAGGAATTTGAGGATTGGTGTTTGTATTTCTGCAGAACCTGCCACTGGGATTTTCTTAGGGATGGCATTAAATGTGCTGATTGCTCTGGGTAGTATTGACATCTGGACAGTGTGAGGTCTTTTGATCCACGATTACAGAATGTGTCTCTTCATTTAATTAGGATTTTTTTGAGATAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGATGTGATCTCAGCTCACTGCAGTCGCCGCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCACGTAGCTGGGACTGCAGGCACATGCCACCACGCCTGGCTAATTTTTGGATTAGTAGAGACAGGGTTTTCCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTGGGCCTCTCAGACTGCTGGGATTACAGGCGTCAGCCACCACACTCGGCTGTTTACTTAGGCCTTCTTTAGTTTCTTTCAGTAGTGTTTCATTGCTTTCAAAATATAAGTTTTATACTTTTGTTAAATTTATTTACTTATTTATTTTTTGAGATGGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGCACGAACTCAACAATGTTGAATAGAAGGGATGAGAGCAGGCCGGGCACGGTGGCCGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCGAAAGCCCATTTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGTGTGCACCTGTAATCCCAGCTATTCGGGAGGCTGGGGCAGGAGAATTGCTTGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGGGATTGCACCGCTGCACTTCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAAAAACAAAAACACTCTTTGGAATAGTCGTAGTTTTTTTTATCTCCAGAAGCCTTGGAGAGTAGGGAGGTGGTTTGGTGGTACAGACAGTGTGGCCAAGCATGGCAGGGGCGTCTACACAGGACCCCAGCTGAGGGTGAGACGTGGTGTGTGTGTTTGCCTTTCTCCTGGGCAAGAGCTCATCCTTTGATGGAATGCTCAAAGGAGTCTTTACTTTTTGAGAACTTCCTGAAACCACGCCTGAAGTTGCCAGCCAAAACCTTTAATTTTGATTGTTTCTTAAAAAAAATAGTAACATGAGTGCTTAGAAAATATTTTCTAAGTTGCTTGCTTCAGGATGCATCTTGACCTGTATTTTGAGTGAGGTGGCCCTTCCAGAGTGATTTATTTATTAATTTTTTTTTTGAGGTAGAGTCTCGCTCTGTCTTCCAAGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGTCACCACGCCCAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTACTGAGGATAGTGAATTTGATCTGGATTATAGAACCCTTCTCTAGCTGTAGCCATGGAAGCCTCCCAAGATAGTGGCATGCTGGATACAATTCCATCTTTTCTAAATAATACAATCTCATTAGTTCCTCTGTATCTTACTTTCCTTACTAGAAAATAGAAAAGATACTCATTCCTGTTTAAGAGGCCCGAGC
|
TCCCGGTCCCTCTGCGAGGTGCAGCAGGAGGTCCTCCAGCTGAGGTGCGCCTGATCCCCCTTCCTGGGACACTGGCGGGAGTCCCCCCGTTGTGCCATGTTTTCTTGGTGATGAAGGGAGACAGAACCTCTGGTGGGCCGCAGTTGGGCAGCCCCAGGGGCACCGCGCCCTGCTGTCCCTGGGTTGATAATCCTGTGGTGGGGGGTGAAGCACACGTGTGGGACCTGGCAGGGCTCTGCCTCCCCTCCTGGAGCTCCCAGCCCCCGGGAACACACTCTGGCCCACGTGGTCAGATTGTTCTGCGATGTCTCCACGCAGATCCATGCTGAGCAGTAAGGAGAACGAGCTGAAGGCCGCGCTTCAGGAGCTGGAGAGTGAGCAGGGGAAGGGGCGTGCCCTGCAGAGCCAGCTGGAGGAGGAGCAGCTGCGGCACCTGCAGAGGGAGAGCCAGAGTGCCAAGGCCCTGGAGGTAACAGGGTGTCAGGGCAAGGCAGCCGGCATGGGCTGTGTGCACTGGAAGCCTGAAGCCATGCTCCTCTTTCATCCTTCTTTTCCTGTTCTTCATGGCAGTGCACCCAGTTGACAGCAGTGTGACGTAGCAGGATAGGGCTGTGTTTGCAGGTAAAATTGCACCTTGGTGTAGTGGCAGCCACCACAGGGCGAAGAGTGCGATGACCCGTGGTGGCACGATACCCCTGCTCGGAGCCCCCCCCCGTCCCTGAGCACTTGCTGTGGAGATGGACACAGCCTCCTCGCTGGCATCCAGACAGAGCACAGCCTCAGAGGTCTGTGCACAAGGCAGGCTGGTGGTGGGGCCTCTGCTTTGCATGGCGGAGGCCCAGCAGGCCTGCTGTGGCTTCTGAGCAAGTCTGTGCCAGTTCCATGGGTTATGGCTTTCAACAGCATGGAAGTGGTGGTTCCTAGCAAGCTGGGTGTGTATCTCTGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGAAGAGGGGGCAGGAGCCTCTGGTGGAGTGATTTTCTGGAGAGGGGGCGGGCAGGGGACATCTCTGAATCATTTTCTGGAGAGGGACAGACTGGGAACATCTCTGAACCCAGGACTCAACACCATTTCCGAAAAAAGTATGTCATCTCCGCAGTCTGGGTTTTTTGTTACTTGATGAACTAACAAAAAAATGTTGTCCCTACATGTGGCTAATAGGGTGCATTTCAAAAGGTAGAATTGCTGGGCTAAAGTATATAAACAAATGTGGACAGGAAAACCATGTAGACACTTTTCCTCTTGATTCAGTGTCTCCCATCGTATGTGTTTGCTGTCTAGGAGCTGCGGGCGTCTTTGGAGACACAGCGTGCTCAGAGCAGTCGACTCTGCGTGGCACTGAAACACGAGCAGACGGCCAAGGACAACCTGCAGAAGGAGCTGCGTATCGAGCACTCACGCTGCGAGGCCTTGCTGGCTCAGGAGCGGAGCCAGCTCTCTGAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCCGCACCCTGGAGCTGTCAGAGGCCTTGCGGCACGAGCGGCTCCTGACCGAGCAGCTGAGCCAGAGGACACAGGAGGCTTGCGTGCACCAGGACACACAGGCCCATCACGCTCTGCTGCAGAAGCTGAAGGAGGAGAAGTCCCGGGTGGTGGACTTGCAAGCGATGCTTGAAAAGGTGCAGCAGCAAGCCCTGCATTCTCAGCAGCAGCTTGAGGCTGAGGCTCAGAAGCACTGTGAGGCGCTCAGGAGAGAGAAGGAGGTAAGTGCCACACTGAAGTCGACGGTGGAAGCCCTGCACACCCAAAAACGAGAGCTGAGATGCTCTCTGGAGAGAGAGAGGGAGAAACCAGCGTGGTTGCAGGCAGAATTAGAGCAGTCACACCCACGGTTGAAAGAGCAAGAAGGACGCAAGGCTGCGAGGAGGAGCGCGGAGGCCAGGCAGAGCCCAGCGGCTGCGGAGCAGTGGAGGAAGTGGCAGAGAGACAAGGAGAAGCTGGTGAGAGCCGCCTGCCGGCGGAGGCGTCCACACCTAAAAACGATAAGCAATTGGAGTTAGGATGGTTCACGTGGGGGACGCGAGATTTATGTCTGGCCCTCTGACCTGGTCTGCTCTGGTCTGTGTGCCCTGACGCTGGCACCACACTGCTGTTACTGTAGCTTTCTAGAAAGTATTGAAATCAGGAAGTGTGAGTTCTCCAACTTCGTTCTTCCTCTTCAAGATAGTTTCAGCTCTGTGGGGCTTCTTGCTATTCCACAGGAATTTGAGGATTGGTGTTTGTATTTCTGCAGAACCTGCCACTGGGATTTTCTTAGGGATGGCATTAAATGTGCTGATTGCTCTGGGTAGTATTGACATCTGGACAGTGTGAGGTCTTTTGATCCACGATTACAGAATGTGTCTCTTCATTTAATTAGGATTTTTTTGAGATAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGATGTGATCTCAGCTCACTGCAGTCGCCGCCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCACGTAGCTGGGACTGCAGGCACATGCCACCACGCCTGGCTAATTTTTGGATTAGTAGAGACAGGGTTTTCCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTGGGCCTCTCAGACTGCTGGGATTACAGGCGTCAGCCACCACACTCGGCTGTTTACTTAGGCCTTCTTTAGTTTCTTTCAGTAGTGTTTCATTGCTTTCAAAATATAAGTTTTATACTTTTGTTAAATTTATTTACTTATTTATTTTTTGAGATGGAGTCTCATTCCGTCACTCAGGCTGGAGTGCAGTGGCACGAACTCAACAATGTTGAATAGAAGGGATGAGAGCAGGCCGGGCACGGTGGCCGATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCGAAAGCCCATTTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGTGTGCACCTGTAATCCCAGCTATTCGGGAGGCTGGGGCAGGAGAATTGCTTGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGGGATTGCACCGCTGCACTTCAGCCTGGGCAACAAGAGCGAGACTCCATCTCAAAAAAACAAAAACACTCTTTGGAATAGTCGTAGTTTTTTTTATCTCCAGAAGCCTTGGAGAGTAGGGAGGTGGTTTGGTGGTACAGACAGTGTGGCCAAGCATGGCAGGGGCGTCTACACAGGACCCCAGCTGAGGGTGAGACGTGGTGTGTGTGTTTGCCTTTCTCCTGGGCAAGAGCTCATCCTTTGATGGAATGCTCAAAGGAGTCTTTACTTTTTGAGAACTTCCTGAAACCACGCCTGAAGTTGCCAGCCAAAACCTTTAATTTTGATTGTTTCTTAAAAAAAATAGTAACATGAGTGCTTAGAAAATATTTTCTAAGTTGCTTGCTTCAGGATGCATCTTGACCTGTATTTTGAGTGAGGTGGCCCTTCCAGAGTGATTTATTTATTAATTTTTTTTTTGAGGTAGAGTCTCGCTCTGTCTTCCAAGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGTCACCACGCCCAGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTACTGAGGATAGTGAATTTGATCTGGATTATAGAACCCTTCTCTAGCTGTAGCCATGGAAGCCTCCCAAGATAGTGGCATGCTGGATACAATTCCATCTTTTCTAAATAATACAATCTCATTAGTTCCTCTGTATCTTACTTTCCTTACTAGAAAATAGAAAAGATACTCATTCCTGTTTAAGAGGCCCGAG
|
benign
| 321,586 |
Mutation found at chromosome 21 position 46436019, gene PCNT (pericentrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II', 'PCNT-related_disorder']
|
TTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTACTGAGGATAGTGAATTTGATCTGGATTATAGAACCCTTCTCTAGCTGTAGCCATGGAAGCCTCCCAAGATAGTGGCATGCTGGATACAATTCCATCTTTTCTAAATAATACAATCTCATTAGTTCCTCTGTATCTTACTTTCCTTACTAGAAAATAGAAAAGATACTCATTCCTGTTTAAGAGGCCCGAGCATTGAGTGAGGCGCTGTCAGGAGGGTAGAGTCTGAGCTGCACCCTGGTCACCGCAGTGGCAGGGGCGCTGGTGCCACACAGTGCAGGCTCAGCTGTGGGTCCTCTGGGCTGGGAAGGCCTCAGCTCAGTGCTGGGGTTCCCTCCCTGACACGGCAAGCCGCCTCTGTGTGTCTGCATCTTGGGCCTCTTCCCGCTGGATCTGTCTTTGTGTTGTCACAAGGAAGCCCCAGCGGCGCTGCTGGGAATCAGAGGCCCTTCAGAGGCTGCTTCGTCCTTCCTTGCCCCATCGTGCAGTAGACCTTCTGTCCCCTGCCTGGTGGGAGTCGGGCCCTGGGCAGGGGCTCAGGCGCTTGCTGACACGCTTCTCCCGGGCACCAGACATGGCCTGTGCCCCCGTCCTGCAGAAGGAAAGGCTGCTGCTCCTTGAGGTCTGGCTTAGGAGCTCAGGCCCACGTGGCCACCCAGGCTCAGCCCCAGGGCTGCACTCAGGCTCATACGTGTGTGCATGTTCACATGCACAAATGTGCCTGTCTGTGTCTATGTTGGTATGAGCGTCTGGGCGTGTGCGTGTACATATGTGGATGAGTGGGACCAGGGCACAGGGAAGCGTCATCCGGTCTGTTCTGTTTCAGCTTCTCAGGCTCCTCTCCTTTGGACCCCGCGTGCTTGCCCTGGGCCTGATGAAAGCCTGATAGTTTTAAAAACTACGATGGAAACGCTTTTACCACTGAATCATTCTGGGGTGTGTGATTCAGCTGCCTCCATGCTGGAGGGACACAGAGCAGCACAGCACGAGGGTGTGCAGTGTGTCAGCTGTGGGTCCCAGTACAGGACCACAGGGGCTGCCTGCCCGAGGGCCTGTTTCTGGTCTGTGAGGGGCCTCCCCTGTAACGCGGCTGTGTGTTTTGGGCTTTTGCTTGGCAGTTGTTGTTTTTTTTGTTTTGGTTTGGTTTTTTTTGGTAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGTAACCTCTACCTTCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCCTCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCTGCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCTGCTGGCAGTTTTGTGTTTTGTTTTGTTTTGTTTTGTTTGAGATGGAGTCTCACTCTGTTGTCCAGGCTGAAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCATCCTCTCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGTGGGGTTTCACTGTGTTGGCCAGCATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAACCACCGCGCCCGGCCGGCAGTTTTGTTTTTGGACACTGACGTGAACGTCTTCTCTGTCTTTTTTCTGTTAACAACAGCGAGAATTAGAACTGCAGCGTCAGCGTGACTTGCATAAGATCAAGCAGCTTCAGCAGACAGTGAGAGACCTGGAGTCGAAGGACGAGGTGCCTGGCAGCCGCCTCCACCTAGGTTCTGCCCGCAGGGCTGCCGGCTCGGATGCGGACCACCTCCGGGAACAGCAGCGAGAGCTGGAGGCGATGAGGCAGCGGCTGCTCTCTGCCGCCCGGCTTCTCACCAGCTTCACCAGCCAGGCCGTGGACAGGTGTGCACCCACGCCACCTGGCGCTCACTGGTCCCTTGCAGCCACCCCTCTGTCCCAGACCCGGCCCGAGGGCTGGGGCGCGTCTGGTGTGAGGCCCCTGCTCCTTTGCACTTAACGCTCTAGTCCTCTTTCTGAGACTTTGCTGAGGGATTCCGGATTGGCAAGATGGCATGTTCATATTCTAATGTCAGAGAAAAAAATCCTGTGATTCAAAATACGCCTGACGTGGGGCTTCCATGTTCCTTTGAGGGTTGGCTTGGTTCTCTTTACACTCTGTGTAGTTGCTCACCACCCACAGGGTCGGGTTTGGAGCCTCCTGTGGCCCCCCCCCCCCCCCCCCGCTGGCACTGCCCAGTGTCACTCAAGGCCACTCACACCCAGGATGACGATCGTGATATTTCATATGGGCAGAAAGGGTAATGCTAATGTTTGTCTTTTTCCCTATACACAGAAACTCGGCAAACACAGTTCTCCTTTCTATACTTGGACTTAATGTATAGAGCAGCATGATTTCTAAGCAAAGTTTCACTTAGGACAGCATTTTAAATCATTCATTCCAGAGGAAAGCCACGGGGCCTGGCAGGCGGTGGCTTCCCGTGCTCGGTGGCGCGCCTCCCGGCTGGAGGTTTCTGAGCTCTGCAGAAGCGTCCAGCCACAGGCCTGTTGCCCCCGTGGGCCCCTGGCTCTGCCTCACGGCTGGACGAAGTGATTCACACACAGGCTCCTCAGAAACCTGTCTTGTCTCTCTTGAGCCGTGAGCTCTTGTTTAGTTTTGCATAATGGTCACTTGGGGCGCGTATGCAACTTTGAGTGCCCATTTATTTTTACAGGACAGTTAATGATTGGACGTCATCCAATGAGAAAGCAGTGATGTCTTTACTGCACACGTTGGAGGAGCTGAAGTCTGACTTGAGCAGGCCCACCTCCTCCCAGGTAAGGGGTGAGCGCCCCCAGGTCCCTGGCCTGGCTCCTCCCCCAGAGGGGCCCTCTCGGCAGCTTTGTGGTTCTTTTTCACGCTTCCCCATTGTTCTTCCTCCCTCGCTGCCTTCTCTGAATTCATGGTTGCTATCTGGGTGAGTGGGTGGGGTCGACCCTGTGGGCCGAGTGGGGACGGATGTCCTCCATGTCCTGGGGCACTTGTGTGGTCTTCGGGGGCTGAGCCCTGCTGCCATGGGATGCTGTGTGACTGTGTGGTCTTCGGGGGCTGAGCCCTGCTGCCATGGGATGCTGCGTGACTGGTAGAGCCCCCTCACATGCTGCTCGCTGTGCATGACCTGGACACATTGCAGGTCGCTGGTCAGGAGGGGCTATGGTTCTGCTCTGGTGCTGGCGGCCGATGTTCACCTCCACCTGGCCCAGCCTGCTGGCTTTGTGTTTGCGTTGACGGCCTTTGCTAGAAACAAAAACCCAAGTCCTCCTTGGAAAGTCTGAGCTCACTGTAAGCTGCCTCTGAAGGAGGTGGGAATCTGGCTGCTGGTATAAATTCTTGATGTGTGTTCTGTGGCATTTATGAAATCATGACTTTGATCGTGGAGCCCACGCATGTGAGGTGCAGGGGAGCTGCGCCGCTTACCCTCTGGCCCCGCCAGCTGAACGTCGTTGTGGGTGGGGTGCACCCTGCCCCCTGTGTTGGGCCCTGGTGACCTTTCAGCGTGCCCACCCTCCACAGGCTGAACGTCCTTTTGATGGTGGAAGTAATAAACCTGTTTTGAGGGGCTTCACATCCGCCCCCTTGGGATGAACTAACAACGGTCCAGCCACCTGTTAATTTCAGTGCTGTTAGAACAACCAAACGGGCTATGCTTTGTGACAGGCCTGCGTTGTTCATACAAGCCAGTTGCGTGCAAAGTCTGTGATTCAATGACTTTTACAATTTTCTGCCAGCTCCACAAGCTTCTCATTGAACCCCAGACACATT
|
TTTACCACATTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGCCACTGTGCCCGGCCTCCAGAGTGTTTTTTACTGAGGATAGTGAATTTGATCTGGATTATAGAACCCTTCTCTAGCTGTAGCCATGGAAGCCTCCCAAGATAGTGGCATGCTGGATACAATTCCATCTTTTCTAAATAATACAATCTCATTAGTTCCTCTGTATCTTACTTTCCTTACTAGAAAATAGAAAAGATACTCATTCCTGTTTAAGAGGCCCGAGCATTGAGTGAGGCGCTGTCAGGAGGGTAGAGTCTGAGCTGCACCCTGGTCACCGCAGTGGCAGGGGCGCTGGTGCCACACAGTGCAGGCTCAGCTGTGGGTCCTCTGGGCTGGGAAGGCCTCAGCTCAGTGCTGGGGTTCCCTCCCTGACACGGCAAGCCGCCTCTGTGTGTCTGCATCTTGGGCCTCTTCCCGCTGGATCTGTCTTTGTGTTGTCACAAGGAAGCCCCAGCGGCGCTGCTGGGAATCAGAGGCCCTTCAGAGGCTGCTTCGTCCTTCCTTGCCCCATCGTGCAGTAGACCTTCTGTCCCCTGCCTGGTGGGAGTCGGGCCCTGGGCAGGGGCTCAGGCGCTTGCTGACACGCTTCTCCCGGGCACCAGACATGGCCTGTGCCCCCGTCCTGCAGAAGGAAAGGCTGCTGCTCCTTGAGGTCTGGCTTAGGAGCTCAGGCCCACGTGGCCACCCAGGCTCAGCCCCAGGGCTGCACTCAGGCTCATACGTGTGTGCATGTTCACATGCACAAATGTGCCTGTCTGTGTCTATGTTGGTATGAGCGTCTGGGCGTGTGCGTGTACATATGTGGATGAGTGGGACCAGGGCACAGGGAAGCGTCATCCGGTCTGTTCTGTTTCAGCTTCTCAGGCTCCTCTCCTTTGGACCCCGCGTGCTTGCCCTGGGCCTGATGAAAGCCTGATAGTTTTAAAAACTACGATGGAAACGCTTTTACCACTGAATCATTCTGGGGTGTGTGATTCAGCTGCCTCCATGCTGGAGGGACACAGAGCAGCACAGCACGAGGGTGTGCAGTGTGTCAGCTGTGGGTCCCAGTACAGGACCACAGGGGCTGCCTGCCCGAGGGCCTGTTTCTGGTCTGTGAGGGGCCTCCCCTGTAACGCGGCTGTGTGTTTTGGGCTTTTGCTTGGCAGTTGTTGTTTTTTTTGTTTTGGTTTGGTTTTTTTTGGTAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGTAACCTCTACCTTCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCCTCATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCTGCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCTGCTGGCAGTTTTGTGTTTTGTTTTGTTTTGTTTTGTTTGAGATGGAGTCTCACTCTGTTGTCCAGGCTGAAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCATCCTCTCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGTGGGGTTTCACTGTGTTGGCCAGCATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAACCACCGCGCCCGGCCGGCAGTTTTGTTTTTGGACACTGACGTGAACGTCTTCTCTGTCTTTTTTCTGTTAACAACAGCGAGAATTAGAACTGCAGCGTCAGCGTGACTTGCATAAGATCAAGCAGCTTCAGCAGACAGTGAGAGACCTGGAGTCGAAGGACGAGGTGCCTGGCAGCCGCCTCCACCTAGGTTCTTGCCCGCAGGGCTGCCGGCTCGGATGCGGACCACCTCCGGGAACAGCAGCGAGAGCTGGAGGCGATGAGGCAGCGGCTGCTCTCTGCCGCCCGGCTTCTCACCAGCTTCACCAGCCAGGCCGTGGACAGGTGTGCACCCACGCCACCTGGCGCTCACTGGTCCCTTGCAGCCACCCCTCTGTCCCAGACCCGGCCCGAGGGCTGGGGCGCGTCTGGTGTGAGGCCCCTGCTCCTTTGCACTTAACGCTCTAGTCCTCTTTCTGAGACTTTGCTGAGGGATTCCGGATTGGCAAGATGGCATGTTCATATTCTAATGTCAGAGAAAAAAATCCTGTGATTCAAAATACGCCTGACGTGGGGCTTCCATGTTCCTTTGAGGGTTGGCTTGGTTCTCTTTACACTCTGTGTAGTTGCTCACCACCCACAGGGTCGGGTTTGGAGCCTCCTGTGGCCCCCCCCCCCCCCCCCCGCTGGCACTGCCCAGTGTCACTCAAGGCCACTCACACCCAGGATGACGATCGTGATATTTCATATGGGCAGAAAGGGTAATGCTAATGTTTGTCTTTTTCCCTATACACAGAAACTCGGCAAACACAGTTCTCCTTTCTATACTTGGACTTAATGTATAGAGCAGCATGATTTCTAAGCAAAGTTTCACTTAGGACAGCATTTTAAATCATTCATTCCAGAGGAAAGCCACGGGGCCTGGCAGGCGGTGGCTTCCCGTGCTCGGTGGCGCGCCTCCCGGCTGGAGGTTTCTGAGCTCTGCAGAAGCGTCCAGCCACAGGCCTGTTGCCCCCGTGGGCCCCTGGCTCTGCCTCACGGCTGGACGAAGTGATTCACACACAGGCTCCTCAGAAACCTGTCTTGTCTCTCTTGAGCCGTGAGCTCTTGTTTAGTTTTGCATAATGGTCACTTGGGGCGCGTATGCAACTTTGAGTGCCCATTTATTTTTACAGGACAGTTAATGATTGGACGTCATCCAATGAGAAAGCAGTGATGTCTTTACTGCACACGTTGGAGGAGCTGAAGTCTGACTTGAGCAGGCCCACCTCCTCCCAGGTAAGGGGTGAGCGCCCCCAGGTCCCTGGCCTGGCTCCTCCCCCAGAGGGGCCCTCTCGGCAGCTTTGTGGTTCTTTTTCACGCTTCCCCATTGTTCTTCCTCCCTCGCTGCCTTCTCTGAATTCATGGTTGCTATCTGGGTGAGTGGGTGGGGTCGACCCTGTGGGCCGAGTGGGGACGGATGTCCTCCATGTCCTGGGGCACTTGTGTGGTCTTCGGGGGCTGAGCCCTGCTGCCATGGGATGCTGTGTGACTGTGTGGTCTTCGGGGGCTGAGCCCTGCTGCCATGGGATGCTGCGTGACTGGTAGAGCCCCCTCACATGCTGCTCGCTGTGCATGACCTGGACACATTGCAGGTCGCTGGTCAGGAGGGGCTATGGTTCTGCTCTGGTGCTGGCGGCCGATGTTCACCTCCACCTGGCCCAGCCTGCTGGCTTTGTGTTTGCGTTGACGGCCTTTGCTAGAAACAAAAACCCAAGTCCTCCTTGGAAAGTCTGAGCTCACTGTAAGCTGCCTCTGAAGGAGGTGGGAATCTGGCTGCTGGTATAAATTCTTGATGTGTGTTCTGTGGCATTTATGAAATCATGACTTTGATCGTGGAGCCCACGCATGTGAGGTGCAGGGGAGCTGCGCCGCTTACCCTCTGGCCCCGCCAGCTGAACGTCGTTGTGGGTGGGGTGCACCCTGCCCCCTGTGTTGGGCCCTGGTGACCTTTCAGCGTGCCCACCCTCCACAGGCTGAACGTCCTTTTGATGGTGGAAGTAATAAACCTGTTTTGAGGGGCTTCACATCCGCCCCCTTGGGATGAACTAACAACGGTCCAGCCACCTGTTAATTTCAGTGCTGTTAGAACAACCAAACGGGCTATGCTTTGTGACAGGCCTGCGTTGTTCATACAAGCCAGTTGCGTGCAAAGTCTGTGATTCAATGACTTTTACAATTTTCTGCCAGCTCCACAAGCTTCTCATTGAACCCCAGACACAT
|
pathogenic
| 321,591 |
Considering the variant on chromosome 21, location 46440991, involving gene PCNT (pericentrin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
ACAGACATGAGCCACCGTGCCCGGCCTAAAGTGACTTATAATTTTCATAATGGTATAGTTGGATAGAGTTATCTTCCGGAATGTCTCATTTTTTTTTCTTTTGTATTTAGGCTATTTTGTTTGTGATTTGCTTTATTTTTTATAACTTTTTAAAAATTATTTTTAAATTTACATACAGTAAAATTTGCCCTTTCCTGGTGTAGTGTCATACAAGTTCACACACACACACATCCCTGTAACCTTCATAAGTAACCACCATTCACAGAGCACACAGCGATGGCCCCCCCAAAAAGAGCAGCAGGCATCTCCGCCTGCCACAGGCCCTGGCTCTCTCCCAGAAAGGTGTGTCAGTGGAACCAGCCCGTCTGGGACCTCCTAAACTGGCTTTTTTCACTTTTTGGGTTTTTTTTCTGAGACAGGGCCTTGCTGCATCTCCCAGGCTGGAGTGCAGTGGAGCAGTCACAGCTCACTTCAGCCTTGACCTCCCAGGTTCAGGGATCCTCCTGCCTCAGCCTCCTGACCTGCAGTGGTGTCAGCAGCAACCTGTGCACGTCCTCCCGTACACTCTTAAGTCATCTCTAAGATCACTTGCAGCACCTCATTCAGTGTAAATGCCACGTAAATAGTTGTCATCCTGTATTGTTTAGGGTGTAGGGGCAAGAAAAGAAGCACACGTTTGGTACAGACACATCGTTTTTTCTGAATATTTTTCACCCACAGTTGGTTGAATCCATGGATGTGGAACCCACAGCTGTCGAGAGTTGACTGTGCTTGTAGTTACCAGTGGTTGGCATTTCTAGGACCGGAGAATATGAGAGTGTTTAAGGCTTAAAGCTTTGAATTTGGGGTGATTTTACAAAGAATTGGTTTTCTGTTTCTGTTAAAATGTACCTTTTTTGCAATCATACTTCAGCAAGTGGCATGTCGTAATTACTCCATGTTAATTCTTTGGCTGATCACAGCACGGCGTAACCTAGGCCCTGCTGAGGGGGTGCTGAAGTTGAGGAGGGGCCAGGTGTGGTGTGGTCAGCCTGGCCTCCCCGCACATGGCCTTCTCCCTCACCTGCCCCCGGCTGCGTCTCTAAGATGCTCTTGTTGACGAGCAGCTCTGTAGACAGCGCTGGCTGTGCTTCCTTACAGAGGTCGGAAAGGTCTGCTTGGAAGCCAGACGAAACGGCTCCACAGAGTTCCCTGAGGCGCCCAGACCCCGGCCGGCTTCCACCAGCTGCCAGCGAGGAAGCACACACCAGCAATGTCAAGGTAGGAACGGTGCCACGAGTATAGAACTTTGGTGCTTTTTTAAGTCCTGGGTTTGCAAATTGCAGGCAAAGCATTTTTGTGACCACAAGGTTCTCGTCTGCCGGGTGTAGCAGTCACATCACTAAAGGAAAGGACGTTCACAGAATAAACTTCGGCTTGAATTTTGTTTTAATTGTGCACAAATACTGAGTTTCTGTGCTTGTTAAGCGTGGAACGTGGAAGGCTTTGACAAAGTCAGCAAATGGCGGCCTCTGCAGCCTGAGGGAGGCCTGGCCCAGGGGCTTGCCGGGATTCGGCCCAAGATCTGCTGCAGTCTCCTGATGGCACACGGTCCCCACCCCGTGACGTCCATCTCATGCCCAGTTTGGACCTTACCTAAGGGGTGAAATGCAAGAAGCTTCATAGGGGCTCATTTGATGATGCTGTGGAGAGGAGCTTGTGGTCCTAGATCTTGTCTGACAAACACAAATTGATCTTCCAACAGCAAGGTTGTTTCTGGCCACAGATACTGTTGGAAGGCCGATGGCTCTGTGATGATTTGATGGGAAAAAACAATCTGACTCTTTGGAAAGAGCAATGGTGTTAATGTGCTTTTGTCAGCAAGACAGTCTTTGTTTCCTATGATAAAATTTTACTGCTTTTTTTCTTTTAGATGGAAAAATTGTACCTGCATTACTTGAGAGCAGAGAGCTTTAGAAAAGCTCTGATTTATCAAAAGAAGTATCTTTTGCTGTTGATTGGTGGATTCCAGGATTCTGAACAAGAAACACTCTCCATGATTGCCCATTTGGGGGTATTTCCTTCCAAAGCAGAACGGAAAATCACATCTCGTCCTTTCACCAGGTTCCGCACGGCCGTCAGGGTGGTCATTGCAATATTAAGGTAAATGCCATGACGTTCAGTCAGTGCGTTCCGCGTCTGTCTCCGTGAGTGGGCAGCACACTGCATGGTTTTTTGGTCATTTTATTCCTTGAAACTCCATAATATGTTCTTTTTAAAGATGAATGGCATTTGAGGCCTTAGAGAAAATACAGATGATGAACTTGTCTTCAAGAAGTCATGTGTATGAATCTCTCACCTTCTAAAACTAAAGATTTAAGGGCACCTTTGTATTACAGAGGAACATCTTGACTTTTAATGGGTTTCGTGCCACAAAGAACGTGCTGAATTTCTAAAACTGTTTTTCCCCCTAAACACTGTGCGGCTGTGCCTGCTCCCTGATGCCACAGAGGTGTTTCCCAAGGCCACGCGCGGGCCTGTCTGGAGTAGCAGATGCAGCAGAGAGCAGCTAGGAATCCCGCTCCTTTCAGAGACCAGGTGCCGAGCCAGTTCAGTCATCGCGGCTGCAGGCTGGGCCAAAGTGGGGTGCAGGCGAGGCCTCCTGGGTTGCTGTACTCTCAGCTTCTCTGGTCCTGGGGCACTTTGTCTCCTCGTCTCTGAGCTCCCCTGACCGTAGGCCTCCACCGTCCATCCTTCCACCCACCCATCTGTCCATCCTGTGTTCATGGGGAGAACACCCTGCAGGAGGAAGCATTTTAGGCACTAGATAGGGGAGGTAAGCAGACCCAGATCCTACCTCCTGTCGAGGAGGGGAGATCTTTTGAAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGATGGGAGGGTCCTGCACACCAGGCGGGAGCGGCATGTGTTTCCTAGTCACTGGTGTGGCCGGCTGACTTTGAACTGGAGTCGTCCTGAGCTGGGCCATGGTGGGTGTCTAGGGGACCATATGGTCCACGGTGGGGCCGCAGTGAGGCTTTGTCAGGTGGTTGGGCATGGGAAGGTCGCCGCCGCCGGCAGCCCTGCGAGCACTTTGGATGTGTGCACCCGGCATGCCAGGCCCGAGTCAACAGACTGGCCGACCTTGGCGTCCTGGTCCCCATGGGCAGCGAGGCCCCCATTCTGCTTGTTTGGTCACAGTGGGGTTTTCATTGCTCTTTCCCTTCCTGTCTTGCCGTACTTTTAAGTGTGTCTTGTCTCTTTTTTTTGTAGATTACGTTTTTTGGTTAAGAAATGGCAAGAAGTAGATCGGAAAGGAGCTCTGGCACAAGGCAAAGCCCCTCGCCCAGGTGGGACTCCAGCTGCTGTTGACCGCTGGACTCACAAACCTTTCTTTCTACTCTTGTTTTTCATTCACTTTGGGTCATTTTTCAGTGTTGATGGGGACGTAATAAAGCACGGTAAGAAAATCCGTGAATTCCGTCAGAGCAGTCGTCCAGAGGGAAGGCGCGCCCGGCGTAGGGAGGTCAGAGCTCATGTTAGCTATGAACACAGGTCACAGGGGCGTACGGCGATGGGAAACACTGAGATGCTCAATATATTGATTATTTAATAGTGTTTAGCAAAATGGTCTTTTTTTATTCCTTAAATCAACTGAAACTCACTTCACGTCTCTTTCCTTGTAGAGCATCATGCTTATTTCTGGCTCACTCACATCTTTGTCTCGGGAGTTCTCTGCCGAGCCATTGCCCCCTACAGCAGAGAGCACAGCTGGCTGCACTAGTGCTGAAGGAGCCAGCCCCAGAGCAGGGCAT
|
ACAGACATGAGCCACCGTGCCCGGCCTAAAGTGACTTATAATTTTCATAATGGTATAGTTGGATAGAGTTATCTTCCGGAATGTCTCATTTTTTTTTCTTTTGTATTTAGGCTATTTTGTTTGTGATTTGCTTTATTTTTTATAACTTTTTAAAAATTATTTTTAAATTTACATACAGTAAAATTTGCCCTTTCCTGGTGTAGTGTCATACAAGTTCACACACACACACATCCCTGTAACCTTCATAAGTAACCACCATTCACAGAGCACACAGCGATGGCCCCCCCAAAAAGAGCAGCAGGCATCTCCGCCTGCCACAGGCCCTGGCTCTCTCCCAGAAAGGTGTGTCAGTGGAACCAGCCCGTCTGGGACCTCCTAAACTGGCTTTTTTCACTTTTTGGGTTTTTTTTCTGAGACAGGGCCTTGCTGCATCTCCCAGGCTGGAGTGCAGTGGAGCAGTCACAGCTCACTTCAGCCTTGACCTCCCAGGTTCAGGGATCCTCCTGCCTCAGCCTCCTGACCTGCAGTGGTGTCAGCAGCAACCTGTGCACGTCCTCCCGTACACTCTTAAGTCATCTCTAAGATCACTTGCAGCACCTCATTCAGTGTAAATGCCACGTAAATAGTTGTCATCCTGTATTGTTTAGGGTGTAGGGGCAAGAAAAGAAGCACACGTTTGGTACAGACACATCGTTTTTTCTGAATATTTTTCACCCACAGTTGGTTGAATCCATGGATGTGGAACCCACAGCTGTCGAGAGTTGACTGTGCTTGTAGTTACCAGTGGTTGGCATTTCTAGGACCGGAGAATATGAGAGTGTTTAAGGCTTAAAGCTTTGAATTTGGGGTGATTTTACAAAGAATTGGTTTTCTGTTTCTGTTAAAATGTACCTTTTTTGCAATCATACTTCAGCAAGTGGCATGTCGTAATTACTCCATGTTAATTCTTTGGCTGATCACAGCACGGCGTAACCTAGGCCCTGCTGAGGGGGTGCTGAAGTTGAGGAGGGGCCAGGTGTGGTGTGGTCAGCCTGGCCTCCCCGCACATGGCCTTCTCCCTCACCTGCCCCCGGCTGCGTCTCTAAGATGCTCTTGTTGACGAGCAGCTCTGTAGACAGCGCTGGCTGTGCTTCCTTACAGAGGTCGGAAAGGTCTGCTTGGAAGCCAGACGAAACGGCTCCACAGAGTTCCCTGAGGCGCCCAGACCCCGGCCGGCTTCCACCAGCTGCCAGCGAGGAAGCACACACCAGCAATGTCAAGGTAGGAACGGTGCCACGAGTATAGAACTTTGGTGCTTTTTTAAGTCCTGGGTTTGCAAATTGCAGGCAAAGCATTTTTGTGACCACAAGGTTCTCGTCTGCCGGGTGTAGCAGTCACATCACTAAAGGAAAGGACGTTCACAGAATAAACTTCGGCTTGAATTTTGTTTTAATTGTGCACAAATACTGAGTTTCTGTGCTTGTTAAGCGTGGAACGTGGAAGGCTTTGACAAAGTCAGCAAATGGCGGCCTCTGCAGCCTGAGGGAGGCCTGGCCCAGGGGCTTGCCGGGATTCGGCCCAAGATCTGCTGCAGTCTCCTGATGGCACACGGTCCCCACCCCGTGACGTCCATCTCATGCCCAGTTTGGACCTTACCTAAGGGGTGAAATGCAAGAAGCTTCATAGGGGCTCATTTGATGATGCTGTGGAGAGGAGCTTGTGGTCCTAGATCTTGTCTGACAAACACAAATTGATCTTCCAACAGCAAGGTTGTTTCTGGCCACAGATACTGTTGGAAGGCCGATGGCTCTGTGATGATTTGATGGGAAAAAACAATCTGACTCTTTGGAAAGAGCAATGGTGTTAATGTGCTTTTGTCAGCAAGACAGTCTTTGTTTCCTATGATAAAATTTTACTGCTTTTTTTCTTTTAGATGGAAAAATTGTACCTGCATTACTTGAGAGCAGAGAGCTTTAGAAAAGCTCTGATTTATCAAAAGAAGTATCTTTTGCTGTTGATTGGTGGATTCCAGGATTCTGAACAAGAAACACTCTCCATGATTGCCCATTTGGGGGGTATTTCCTTCCAAAGCAGAACGGAAAATCACATCTCGTCCTTTCACCAGGTTCCGCACGGCCGTCAGGGTGGTCATTGCAATATTAAGGTAAATGCCATGACGTTCAGTCAGTGCGTTCCGCGTCTGTCTCCGTGAGTGGGCAGCACACTGCATGGTTTTTTGGTCATTTTATTCCTTGAAACTCCATAATATGTTCTTTTTAAAGATGAATGGCATTTGAGGCCTTAGAGAAAATACAGATGATGAACTTGTCTTCAAGAAGTCATGTGTATGAATCTCTCACCTTCTAAAACTAAAGATTTAAGGGCACCTTTGTATTACAGAGGAACATCTTGACTTTTAATGGGTTTCGTGCCACAAAGAACGTGCTGAATTTCTAAAACTGTTTTTCCCCCTAAACACTGTGCGGCTGTGCCTGCTCCCTGATGCCACAGAGGTGTTTCCCAAGGCCACGCGCGGGCCTGTCTGGAGTAGCAGATGCAGCAGAGAGCAGCTAGGAATCCCGCTCCTTTCAGAGACCAGGTGCCGAGCCAGTTCAGTCATCGCGGCTGCAGGCTGGGCCAAAGTGGGGTGCAGGCGAGGCCTCCTGGGTTGCTGTACTCTCAGCTTCTCTGGTCCTGGGGCACTTTGTCTCCTCGTCTCTGAGCTCCCCTGACCGTAGGCCTCCACCGTCCATCCTTCCACCCACCCATCTGTCCATCCTGTGTTCATGGGGAGAACACCCTGCAGGAGGAAGCATTTTAGGCACTAGATAGGGGAGGTAAGCAGACCCAGATCCTACCTCCTGTCGAGGAGGGGAGATCTTTTGAAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGATGGGAGGGTCCTGCACACCAGGCGGGAGCGGCATGTGTTTCCTAGTCACTGGTGTGGCCGGCTGACTTTGAACTGGAGTCGTCCTGAGCTGGGCCATGGTGGGTGTCTAGGGGACCATATGGTCCACGGTGGGGCCGCAGTGAGGCTTTGTCAGGTGGTTGGGCATGGGAAGGTCGCCGCCGCCGGCAGCCCTGCGAGCACTTTGGATGTGTGCACCCGGCATGCCAGGCCCGAGTCAACAGACTGGCCGACCTTGGCGTCCTGGTCCCCATGGGCAGCGAGGCCCCCATTCTGCTTGTTTGGTCACAGTGGGGTTTTCATTGCTCTTTCCCTTCCTGTCTTGCCGTACTTTTAAGTGTGTCTTGTCTCTTTTTTTTGTAGATTACGTTTTTTGGTTAAGAAATGGCAAGAAGTAGATCGGAAAGGAGCTCTGGCACAAGGCAAAGCCCCTCGCCCAGGTGGGACTCCAGCTGCTGTTGACCGCTGGACTCACAAACCTTTCTTTCTACTCTTGTTTTTCATTCACTTTGGGTCATTTTTCAGTGTTGATGGGGACGTAATAAAGCACGGTAAGAAAATCCGTGAATTCCGTCAGAGCAGTCGTCCAGAGGGAAGGCGCGCCCGGCGTAGGGAGGTCAGAGCTCATGTTAGCTATGAACACAGGTCACAGGGGCGTACGGCGATGGGAAACACTGAGATGCTCAATATATTGATTATTTAATAGTGTTTAGCAAAATGGTCTTTTTTTATTCCTTAAATCAACTGAAACTCACTTCACGTCTCTTTCCTTGTAGAGCATCATGCTTATTTCTGGCTCACTCACATCTTTGTCTCGGGAGTTCTCTGCCGAGCCATTGCCCCCTACAGCAGAGAGCACAGCTGGCTGCACTAGTGCTGAAGGAGCCAGCCCCAGAGCAGGGCA
|
pathogenic
| 321,614 |
Is the genetic change at chromosome 21, position 46443854, within gene PCNT (pericentrin) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II']
|
AAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGATGGGAGGGTCCTGCACACCAGGCGGGAGCGGCATGTGTTTCCTAGTCACTGGTGTGGCCGGCTGACTTTGAACTGGAGTCGTCCTGAGCTGGGCCATGGTGGGTGTCTAGGGGACCATATGGTCCACGGTGGGGCCGCAGTGAGGCTTTGTCAGGTGGTTGGGCATGGGAAGGTCGCCGCCGCCGGCAGCCCTGCGAGCACTTTGGATGTGTGCACCCGGCATGCCAGGCCCGAGTCAACAGACTGGCCGACCTTGGCGTCCTGGTCCCCATGGGCAGCGAGGCCCCCATTCTGCTTGTTTGGTCACAGTGGGGTTTTCATTGCTCTTTCCCTTCCTGTCTTGCCGTACTTTTAAGTGTGTCTTGTCTCTTTTTTTTGTAGATTACGTTTTTTGGTTAAGAAATGGCAAGAAGTAGATCGGAAAGGAGCTCTGGCACAAGGCAAAGCCCCTCGCCCAGGTGGGACTCCAGCTGCTGTTGACCGCTGGACTCACAAACCTTTCTTTCTACTCTTGTTTTTCATTCACTTTGGGTCATTTTTCAGTGTTGATGGGGACGTAATAAAGCACGGTAAGAAAATCCGTGAATTCCGTCAGAGCAGTCGTCCAGAGGGAAGGCGCGCCCGGCGTAGGGAGGTCAGAGCTCATGTTAGCTATGAACACAGGTCACAGGGGCGTACGGCGATGGGAAACACTGAGATGCTCAATATATTGATTATTTAATAGTGTTTAGCAAAATGGTCTTTTTTTATTCCTTAAATCAACTGAAACTCACTTCACGTCTCTTTCCTTGTAGAGCATCATGCTTATTTCTGGCTCACTCACATCTTTGTCTCGGGAGTTCTCTGCCGAGCCATTGCCCCCTACAGCAGAGAGCACAGCTGGCTGCACTAGTGCTGAAGGAGCCAGCCCCAGAGCAGGGCATTTCCAGGGGCTCTTGTCCCAGAGCGGCAGGCGTTGTGTGCAGAGAACGCCCCTCCCACGCAGCACAGAGAACGCGGGGTGGGTGTGTGGCTCCGGGCCTGTGGGGCTTAGGCTGCCTGAACCACCGCCGACTGGCACCATGACTCGGCATTCCTGGAAGTGCCTTACCAAGTTGTTGTTGTTGTTTTGTTGTTTTTTAAGAGACGGGCTTGCTCTATCATCCAGGCTCGAGTGCAATGGCACAGTCACAGCTCACTGCAGCCTTGAACTCGTGGGCTCAAGCCATCCTCCTGTGTCAGCCTCCCCAGTACCTGGGACTGTGGGCATGAGCACTGCGCCTGGCAGCTGTATCAGTGTTGACTCCACATTTTAATAGTTGCTTCTTGAAATTAAAATGCTTTGATTCAGCCTTCAAGCCATCAGGAAAGTTTGCCCCTCTGAGTCACACCTGGTGGTCTCCAGGGTTCCTGCCCCTCCCTCCTGAGCCAGCTCCTCAGAGCGGATAGAGGCAGGACCCCCACCCAGGTCTTGAGACCCCCCTGCCCCGCACTCCCCCGGAGACGGGCTACCCCTGCAGATGCAGATAGTCAAAGCTCAGGTTTCTTCCAAAGCTTTTAAAAAGATATTGTACCTTGAGCACTTTAAAAATGTCTTAAAATTGCCATACAGGCTCTTAAAAGCTTATACGTTTAAACTGTTGATAGATGGGCCTTTACTAAAATGCATTCATTTATTTTCCTAATCCCTTGGTTGTTAAATAATTCTGGGGAAGGGCCCCGAGCACGACAGCCGCAGTCTCCACCCAGAACCAGAGAGTCCCCCCCAACCCGGGATGTACCCTCTGGCCACACCAGGGACCCTGCCAGAGGCCGCAGACTGGCAGCAGCAGCCTCCCCACACAGTGGGGGAAGGTCAGTGTGATGCCTTCAGGCCCCGTCTCCTGCCAGGGCTCTCCCTCCAGCCTACATAGGGCCTCAGAGAAATGCATTTTTAGTTCTGGCTTTGGCCCAGCCCAGGGCAAGGCAGGAAACTCTCCAGCGTGAGTCCGTGAGGGCCAAGAAGTCCCGCCCTGTTCTGGGGGAGGACCTGGCTTTTCTGGTGTCTCTGGTGCCCGAGAGCCCGGTGCTGCCATCTTTAGTGAAAGAGTAAATGGTGGCCGAGGGCTCCTTTTGTGAGGGATGTGCCTTGGTGAAGAAGGCATGTTCCCTGCCGTGAAGATACTTGGAAGCTCTGGGTGGAGAGGGAAAAGGGATACCCCTGGTGCTCCCTGGGCCTGGCGGAAGGCTAGGAGGAAGGACAGCTGAGGTGAGGACTGAGTGGGGCAGGTATCACCCTGACAAACAGTTTGGGAAGATCAGGAAAGGCAGGTGAGACCTGGTGCAGAATCCAGGTTGGGTAATAGATACATCGTCGAAGATGTAGCAAGCAAAGTAATATACTCAACTCTGGAACATTGCACAGAAGCTTTTAAAGCACTCTGTGACACTTTTTGTAATGAGGGATCTGAAGGAAACGGCCCCAGAGTCACCCATCCCCACGGGTCTGGTTGGCGGGGCTGGTGCCTTTCTTCTGCACTCAGTCACCATGGCTCCGTCTGTCAAACTCAACTCTTTTTTTTTTTTTTTTTCTTCTCTTGGTGTGGTAATTTGTTTGAAGAGCCACTCCATCCCCAAATTCAAGATTAGAAAGATCCCTGACTGCTTCTCAAGATCCAGAACATTCCTTGACAGAGTATATTCACCATTTAGAAGTGATCCAGCAAAGATTGGGAGGGGTACTACCAGGTAATGCAAGTCCTCGCCGAGTATTTATTAAGCTGATTATCACTGTACCCTGGAAACGTAGGGTCTGTTGAAAGATGGCTGGTATTCAGCTTAGTAACCAAAGTTTCAGTCTGAACAATCAGTGTCACTAATAGTATTAGAATAGAGGCTACAAGTGAAGAATCTCACAGAAGTCTAAGCCAGTGTACTCAGTGATACGTGCTGAGGTCAGTTTGACTTAATCACCGTCTGGACTTTTTTGTCCTTTCTCTTACATTGATAGCGAACATAAAGATTATATTTCGACCAGGATATAATTTGTTCAGTGTTTCTTAAATATCATAATTTAAACCACTGTATAATTCATATTTTTACCAAAATTTACATGAATTCAGTGATAGTGTTTCAAAATTGTGGAATTCTTTTCAAAAAATCTGTGAAGCCTTGTAACCAATTTGCTGCCTCATTTTTATTTATATGCAGATTCTACTTCAAAGAAATCCTGCCACCCGATGATTAAACAGTGAATAAAATGTCATGGCTCTTTCCTGCGACAATTCTATTTGAGGAAAAGATTTGTTTTTCCCTTTTCCCAAGGAAGCTCGTGGGACAGCATGGGCACTACTCTTCATGTGCGGTGACACCAGCCCCCAGATGCCTTGAATTAAGTGTCCTCACCTTTATGCATGACTGCAAAGCCAGCTGGAGCATTTTCTATGGAGCCTCCGTATGTTTTAGGCCCATGACCTTCGTGAGGTGACGGGCACTCACTCCCATGAGCCCTGGCTGTGTGCTGTTGTGTGCCTATCGGCAGATCCATCCTTCCTGCCTCCAAGGAGGATACACAGAGAATGGCTTCCTGTTGTTTTGTTTATTTTCTTAACGTGTACAGATGGAAACTTCATTTAAAAATAAAAACAAAACAACTCAAAAAGGAATAAAATTTAATCACTGTTTTGTTTGTGAATAGCCCTTGTGTTGTTTTTTTTTTCCATTTTATCCATTTTATCAGTTTGCCTTTCTCACTGACTAAAAAATTGAGCAGAGAGTTTATGTTAAACTCGTAAGTCAAAAATTTTCAGTGGAACCCGGAGCATTCTT
|
AAGGCAGTGGTGTCCCAGAAAGGAGCAGTCTCTGTGTCCCTGTGAGGGCACTGCCTAGGGTAGCTGCCACCAAGGGGCCTTGACAGGTCTTATGGAGGAATCGGCAGTGTCTGCTATGCCTCAAAGGAGGGAAGCCACAGGCATGATGCTTGTTCCGAAGGCCATCCTAGCAGGGCGTCTGGGGCCCTGCACACTGACCTGCATGCCCTCGTCACCTGCACTCTGCATGCTCACCATCTGACGGACTCCTGCGAGGGCTGGGGTCTCCGTGTTCTGAGCCTGTCCAGTGGCATCTGTGACAGGATGAAGATGGGAGGGTCCTGCACACCAGGCGGGAGCGGCATGTGTTTCCTAGTCACTGGTGTGGCCGGCTGACTTTGAACTGGAGTCGTCCTGAGCTGGGCCATGGTGGGTGTCTAGGGGACCATATGGTCCACGGTGGGGCCGCAGTGAGGCTTTGTCAGGTGGTTGGGCATGGGAAGGTCGCCGCCGCCGGCAGCCCTGCGAGCACTTTGGATGTGTGCACCCGGCATGCCAGGCCCGAGTCAACAGACTGGCCGACCTTGGCGTCCTGGTCCCCATGGGCAGCGAGGCCCCCATTCTGCTTGTTTGGTCACAGTGGGGTTTTCATTGCTCTTTCCCTTCCTGTCTTGCCGTACTTTTAAGTGTGTCTTGTCTCTTTTTTTTGTAGATTACGTTTTTTGGTTAAGAAATGGCAAGAAGTAGATCGGAAAGGAGCTCTGGCACAAGGCAAAGCCCCTCGCCCAGGTGGGACTCCAGCTGCTGTTGACCGCTGGACTCACAAACCTTTCTTTCTACTCTTGTTTTTCATTCACTTTGGGTCATTTTTCAGTGTTGATGGGGACGTAATAAAGCACGGTAAGAAAATCCGTGAATTCCGTCAGAGCAGTCGTCCAGAGGGAAGGCGCGCCCGGCGTAGGGAGGTCAGAGCTCATGTTAGCTATGAACACAGGTCACAGGGGCGTACGGCGATGGGAAACACTGAGATGCTCAATATATTGATTATTTAATAGTGTTTAGCAAAATGGTCTTTTTTTATTCCTTAAATCAACTGAAACTCACTTCACGTCTCTTTCCTTGTAGAGCATCATGCTTATTTCTGGCTCACTCACATCTTTGTCTCGGGAGTTCTCTGCCGAGCCATTGCCCCCTACAGCAGAGAGCACAGCTGGCTGCACTAGTGCTGAAGGAGCCAGCCCCAGAGCAGGGCATTTCCAGGGGCTCTTGTCCCAGAGCGGCAGGCGTTGTGTGCAGAGAACGCCCCTCCCACGCAGCACAGAGAACGCGGGGTGGGTGTGTGGCTCCGGGCCTGTGGGGCTTAGGCTGCCTGAACCACCGCCGACTGGCACCATGACTCGGCATTCCTGGAAGTGCCTTACCAAGTTGTTGTTGTTGTTTTGTTGTTTTTTAAGAGACGGGCTTGCTCTATCATCCAGGCTCGAGTGCAATGGCACAGTCACAGCTCACTGCAGCCTTGAACTCGTGGGCTCAAGCCATCCTCCTGTGTCAGCCTCCCCAGTACCTGGGACTGTGGGCATGAGCACTGCGCCTGGCAGCTGTATCAGTGTTGACTCCACATTTTAATAGTTGCTTCTTGAAATTAAAATGCTTTGATTCAGCCTTCAAGCCATCAGGAAAGTTTGCCCCTCTGAGTCACACCTGGTGGTCTCCAGGGTTCCTGCCCCTCCCTCCTGAGCCAGCTCCTCAGAGCGGATAGAGGCAGGACCCCCACCCAGGTCTTGAGACCCCCCTGCCCCGCACTCCCCCGGAGACGGGCTACCCCTGCAGATGCAGATAGTCAAAGCTCAGGTTTCTTCCAAAGCTTTTAAAAAGATATTGTACCTTGAGCACTTTAAAAATGTCTTAAAATTGCCATACAGGCTCTTAAAAGCTTATACGTTTAAACTGTTGATAGATGGGCCTTTACTAAAATGCATTCATTTATTTTCCTAATCCCTTGGTTGTTAAATAATTCTGGGGAAGGGCCCCGAGCACGACAGCCGCAGTCTCCACCCAGAACCAGAGAGTCCCCCCAACCCGGGATGTACCCTCTGGCCACACCAGGGACCCTGCCAGAGGCCGCAGACTGGCAGCAGCAGCCTCCCCACACAGTGGGGGAAGGTCAGTGTGATGCCTTCAGGCCCCGTCTCCTGCCAGGGCTCTCCCTCCAGCCTACATAGGGCCTCAGAGAAATGCATTTTTAGTTCTGGCTTTGGCCCAGCCCAGGGCAAGGCAGGAAACTCTCCAGCGTGAGTCCGTGAGGGCCAAGAAGTCCCGCCCTGTTCTGGGGGAGGACCTGGCTTTTCTGGTGTCTCTGGTGCCCGAGAGCCCGGTGCTGCCATCTTTAGTGAAAGAGTAAATGGTGGCCGAGGGCTCCTTTTGTGAGGGATGTGCCTTGGTGAAGAAGGCATGTTCCCTGCCGTGAAGATACTTGGAAGCTCTGGGTGGAGAGGGAAAAGGGATACCCCTGGTGCTCCCTGGGCCTGGCGGAAGGCTAGGAGGAAGGACAGCTGAGGTGAGGACTGAGTGGGGCAGGTATCACCCTGACAAACAGTTTGGGAAGATCAGGAAAGGCAGGTGAGACCTGGTGCAGAATCCAGGTTGGGTAATAGATACATCGTCGAAGATGTAGCAAGCAAAGTAATATACTCAACTCTGGAACATTGCACAGAAGCTTTTAAAGCACTCTGTGACACTTTTTGTAATGAGGGATCTGAAGGAAACGGCCCCAGAGTCACCCATCCCCACGGGTCTGGTTGGCGGGGCTGGTGCCTTTCTTCTGCACTCAGTCACCATGGCTCCGTCTGTCAAACTCAACTCTTTTTTTTTTTTTTTTTCTTCTCTTGGTGTGGTAATTTGTTTGAAGAGCCACTCCATCCCCAAATTCAAGATTAGAAAGATCCCTGACTGCTTCTCAAGATCCAGAACATTCCTTGACAGAGTATATTCACCATTTAGAAGTGATCCAGCAAAGATTGGGAGGGGTACTACCAGGTAATGCAAGTCCTCGCCGAGTATTTATTAAGCTGATTATCACTGTACCCTGGAAACGTAGGGTCTGTTGAAAGATGGCTGGTATTCAGCTTAGTAACCAAAGTTTCAGTCTGAACAATCAGTGTCACTAATAGTATTAGAATAGAGGCTACAAGTGAAGAATCTCACAGAAGTCTAAGCCAGTGTACTCAGTGATACGTGCTGAGGTCAGTTTGACTTAATCACCGTCTGGACTTTTTTGTCCTTTCTCTTACATTGATAGCGAACATAAAGATTATATTTCGACCAGGATATAATTTGTTCAGTGTTTCTTAAATATCATAATTTAAACCACTGTATAATTCATATTTTTACCAAAATTTACATGAATTCAGTGATAGTGTTTCAAAATTGTGGAATTCTTTTCAAAAAATCTGTGAAGCCTTGTAACCAATTTGCTGCCTCATTTTTATTTATATGCAGATTCTACTTCAAAGAAATCCTGCCACCCGATGATTAAACAGTGAATAAAATGTCATGGCTCTTTCCTGCGACAATTCTATTTGAGGAAAAGATTTGTTTTTCCCTTTTCCCAAGGAAGCTCGTGGGACAGCATGGGCACTACTCTTCATGTGCGGTGACACCAGCCCCCAGATGCCTTGAATTAAGTGTCCTCACCTTTATGCATGACTGCAAAGCCAGCTGGAGCATTTTCTATGGAGCCTCCGTATGTTTTAGGCCCATGACCTTCGTGAGGTGACGGGCACTCACTCCCATGAGCCCTGGCTGTGTGCTGTTGTGTGCCTATCGGCAGATCCATCCTTCCTGCCTCCAAGGAGGATACACAGAGAATGGCTTCCTGTTGTTTTGTTTATTTTCTTAACGTGTACAGATGGAAACTTCATTTAAAAATAAAAACAAAACAACTCAAAAAGGAATAAAATTTAATCACTGTTTTGTTTGTGAATAGCCCTTGTGTTGTTTTTTTTTTCCATTTTATCCATTTTATCAGTTTGCCTTTCTCACTGACTAAAAAATTGAGCAGAGAGTTTATGTTAAACTCGTAAGTCAAAAATTTTCAGTGGAACCCGGAGCATTCTTN
|
pathogenic
| 321,627 |
Gene PCNT (pericentrin) variant at chromosome position 46444720 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Microcephalic_osteodysplastic_primordial_dwarfism_type_II', 'PCNT-related_disorder']
|
GTAATAAAGCACGGTAAGAAAATCCGTGAATTCCGTCAGAGCAGTCGTCCAGAGGGAAGGCGCGCCCGGCGTAGGGAGGTCAGAGCTCATGTTAGCTATGAACACAGGTCACAGGGGCGTACGGCGATGGGAAACACTGAGATGCTCAATATATTGATTATTTAATAGTGTTTAGCAAAATGGTCTTTTTTTATTCCTTAAATCAACTGAAACTCACTTCACGTCTCTTTCCTTGTAGAGCATCATGCTTATTTCTGGCTCACTCACATCTTTGTCTCGGGAGTTCTCTGCCGAGCCATTGCCCCCTACAGCAGAGAGCACAGCTGGCTGCACTAGTGCTGAAGGAGCCAGCCCCAGAGCAGGGCATTTCCAGGGGCTCTTGTCCCAGAGCGGCAGGCGTTGTGTGCAGAGAACGCCCCTCCCACGCAGCACAGAGAACGCGGGGTGGGTGTGTGGCTCCGGGCCTGTGGGGCTTAGGCTGCCTGAACCACCGCCGACTGGCACCATGACTCGGCATTCCTGGAAGTGCCTTACCAAGTTGTTGTTGTTGTTTTGTTGTTTTTTAAGAGACGGGCTTGCTCTATCATCCAGGCTCGAGTGCAATGGCACAGTCACAGCTCACTGCAGCCTTGAACTCGTGGGCTCAAGCCATCCTCCTGTGTCAGCCTCCCCAGTACCTGGGACTGTGGGCATGAGCACTGCGCCTGGCAGCTGTATCAGTGTTGACTCCACATTTTAATAGTTGCTTCTTGAAATTAAAATGCTTTGATTCAGCCTTCAAGCCATCAGGAAAGTTTGCCCCTCTGAGTCACACCTGGTGGTCTCCAGGGTTCCTGCCCCTCCCTCCTGAGCCAGCTCCTCAGAGCGGATAGAGGCAGGACCCCCACCCAGGTCTTGAGACCCCCCTGCCCCGCACTCCCCCGGAGACGGGCTACCCCTGCAGATGCAGATAGTCAAAGCTCAGGTTTCTTCCAAAGCTTTTAAAAAGATATTGTACCTTGAGCACTTTAAAAATGTCTTAAAATTGCCATACAGGCTCTTAAAAGCTTATACGTTTAAACTGTTGATAGATGGGCCTTTACTAAAATGCATTCATTTATTTTCCTAATCCCTTGGTTGTTAAATAATTCTGGGGAAGGGCCCCGAGCACGACAGCCGCAGTCTCCACCCAGAACCAGAGAGTCCCCCCCAACCCGGGATGTACCCTCTGGCCACACCAGGGACCCTGCCAGAGGCCGCAGACTGGCAGCAGCAGCCTCCCCACACAGTGGGGGAAGGTCAGTGTGATGCCTTCAGGCCCCGTCTCCTGCCAGGGCTCTCCCTCCAGCCTACATAGGGCCTCAGAGAAATGCATTTTTAGTTCTGGCTTTGGCCCAGCCCAGGGCAAGGCAGGAAACTCTCCAGCGTGAGTCCGTGAGGGCCAAGAAGTCCCGCCCTGTTCTGGGGGAGGACCTGGCTTTTCTGGTGTCTCTGGTGCCCGAGAGCCCGGTGCTGCCATCTTTAGTGAAAGAGTAAATGGTGGCCGAGGGCTCCTTTTGTGAGGGATGTGCCTTGGTGAAGAAGGCATGTTCCCTGCCGTGAAGATACTTGGAAGCTCTGGGTGGAGAGGGAAAAGGGATACCCCTGGTGCTCCCTGGGCCTGGCGGAAGGCTAGGAGGAAGGACAGCTGAGGTGAGGACTGAGTGGGGCAGGTATCACCCTGACAAACAGTTTGGGAAGATCAGGAAAGGCAGGTGAGACCTGGTGCAGAATCCAGGTTGGGTAATAGATACATCGTCGAAGATGTAGCAAGCAAAGTAATATACTCAACTCTGGAACATTGCACAGAAGCTTTTAAAGCACTCTGTGACACTTTTTGTAATGAGGGATCTGAAGGAAACGGCCCCAGAGTCACCCATCCCCACGGGTCTGGTTGGCGGGGCTGGTGCCTTTCTTCTGCACTCAGTCACCATGGCTCCGTCTGTCAAACTCAACTCTTTTTTTTTTTTTTTTTCTTCTCTTGGTGTGGTAATTTGTTTGAAGAGCCACTCCATCCCCAAATTCAAGATTAGAAAGATCCCTGACTGCTTCTCAAGATCCAGAACATTCCTTGACAGAGTATATTCACCATTTAGAAGTGATCCAGCAAAGATTGGGAGGGGTACTACCAGGTAATGCAAGTCCTCGCCGAGTATTTATTAAGCTGATTATCACTGTACCCTGGAAACGTAGGGTCTGTTGAAAGATGGCTGGTATTCAGCTTAGTAACCAAAGTTTCAGTCTGAACAATCAGTGTCACTAATAGTATTAGAATAGAGGCTACAAGTGAAGAATCTCACAGAAGTCTAAGCCAGTGTACTCAGTGATACGTGCTGAGGTCAGTTTGACTTAATCACCGTCTGGACTTTTTTGTCCTTTCTCTTACATTGATAGCGAACATAAAGATTATATTTCGACCAGGATATAATTTGTTCAGTGTTTCTTAAATATCATAATTTAAACCACTGTATAATTCATATTTTTACCAAAATTTACATGAATTCAGTGATAGTGTTTCAAAATTGTGGAATTCTTTTCAAAAAATCTGTGAAGCCTTGTAACCAATTTGCTGCCTCATTTTTATTTATATGCAGATTCTACTTCAAAGAAATCCTGCCACCCGATGATTAAACAGTGAATAAAATGTCATGGCTCTTTCCTGCGACAATTCTATTTGAGGAAAAGATTTGTTTTTCCCTTTTCCCAAGGAAGCTCGTGGGACAGCATGGGCACTACTCTTCATGTGCGGTGACACCAGCCCCCAGATGCCTTGAATTAAGTGTCCTCACCTTTATGCATGACTGCAAAGCCAGCTGGAGCATTTTCTATGGAGCCTCCGTATGTTTTAGGCCCATGACCTTCGTGAGGTGACGGGCACTCACTCCCATGAGCCCTGGCTGTGTGCTGTTGTGTGCCTATCGGCAGATCCATCCTTCCTGCCTCCAAGGAGGATACACAGAGAATGGCTTCCTGTTGTTTTGTTTATTTTCTTAACGTGTACAGATGGAAACTTCATTTAAAAATAAAAACAAAACAACTCAAAAAGGAATAAAATTTAATCACTGTTTTGTTTGTGAATAGCCCTTGTGTTGTTTTTTTTTTCCATTTTATCCATTTTATCAGTTTGCCTTTCTCACTGACTAAAAAATTGAGCAGAGAGTTTATGTTAAACTCGTAAGTCAAAAATTTTCAGTGGAACCCGGAGCATTCTTGAATAGCCACTTGACTGTTGTTTACTCTTACTTGGTTTCTTATTTTTTTAAAGATGCTGCCACTATGTATCCACCTCTCATGGCCATGCTTTTTGTTTTTGAGATGGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCGCCGCCTCCTGGGCTCAAGCAACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAGGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTTTGAATTCCTGACCTCAAATGATCCATCCTCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGGCTGTGCTTTTTTATGTTTCACTCATACTCGCTTAGACTAGACAGTAATACCTAGCCAAGGACCCTTTATCCAAAAATGTACTAGATGGGTATAATTTTTTTATTTTTAGAGACAAGGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCACAACTCACTGCAGCCTTGACCTACCAAGCCCAAATGATCCGCCTGCTTAGCCTCCCGAGTAGTTGGGACTACAGGTGCGCACCACCACGCCTGGCACTAATTTTCGTATTTCTTTTAGAGACAAGGTTTCACTTTGTTTCCCGGCCTGGTTTCAAGCTCCTGGCTCAAGCAATCCTACTGTCTCTGCCTCCCGAGTAGCTGGGAGTACAGGCACGCACTGCCACATTGAGCTAGTTGTTTTTTGTTTTTTTTTTTTTTTAAGTAGAGATGGAGTTTCACTCTGTTGCCCACACTGGTCTTGAACCCCTAGCTTCAAGTGATCCT
|
GTAATAAAGCACGGTAAGAAAATCCGTGAATTCCGTCAGAGCAGTCGTCCAGAGGGAAGGCGCGCCCGGCGTAGGGAGGTCAGAGCTCATGTTAGCTATGAACACAGGTCACAGGGGCGTACGGCGATGGGAAACACTGAGATGCTCAATATATTGATTATTTAATAGTGTTTAGCAAAATGGTCTTTTTTTATTCCTTAAATCAACTGAAACTCACTTCACGTCTCTTTCCTTGTAGAGCATCATGCTTATTTCTGGCTCACTCACATCTTTGTCTCGGGAGTTCTCTGCCGAGCCATTGCCCCCTACAGCAGAGAGCACAGCTGGCTGCACTAGTGCTGAAGGAGCCAGCCCCAGAGCAGGGCATTTCCAGGGGCTCTTGTCCCAGAGCGGCAGGCGTTGTGTGCAGAGAACGCCCCTCCCACGCAGCACAGAGAACGCGGGGTGGGTGTGTGGCTCCGGGCCTGTGGGGCTTAGGCTGCCTGAACCACCGCCGACTGGCACCATGACTCGGCATTCCTGGAAGTGCCTTACCAAGTTGTTGTTGTTGTTTTGTTGTTTTTTAAGAGACGGGCTTGCTCTATCATCCAGGCTCGAGTGCAATGGCACAGTCACAGCTCACTGCAGCCTTGAACTCGTGGGCTCAAGCCATCCTCCTGTGTCAGCCTCCCCAGTACCTGGGACTGTGGGCATGAGCACTGCGCCTGGCAGCTGTATCAGTGTTGACTCCACATTTTAATAGTTGCTTCTTGAAATTAAAATGCTTTGATTCAGCCTTCAAGCCATCAGGAAAGTTTGCCCCTCTGAGTCACACCTGGTGGTCTCCAGGGTTCCTGCCCCTCCCTCCTGAGCCAGCTCCTCAGAGCGGATAGAGGCAGGACCCCCACCCAGGTCTTGAGACCCCCCTGCCCCGCACTCCCCCGGAGACGGGCTACCCCTGCAGATGCAGATAGTCAAAGCTCAGGTTTCTTCCAAAGCTTTTAAAAAGATATTGTACCTTGAGCACTTTAAAAATGTCTTAAAATTGCCATACAGGCTCTTAAAAGCTTATACGTTTAAACTGTTGATAGATGGGCCTTTACTAAAATGCATTCATTTATTTTCCTAATCCCTTGGTTGTTAAATAATTCTGGGGAAGGGCCCCGAGCACGACAGCCGCAGTCTCCACCCAGAACCAGAGAGTCCCCCCCAACCCGGGATGTACCCTCTGGCCACACCAGGGACCCTGCCAGAGGCCGCAGACTGGCAGCAGCAGCCTCCCCACACAGTGGGGGAAGGTCAGTGTGATGCCTTCAGGCCCCGTCTCCTGCCAGGGCTCTCCCTCCAGCCTACATAGGGCCTCAGAGAAATGCATTTTTAGTTCTGGCTTTGGCCCAGCCCAGGGCAAGGCAGGAAACTCTCCAGCGTGAGTCCGTGAGGGCCAAGAAGTCCCGCCCTGTTCTGGGGGAGGACCTGGCTTTTCTGGTGTCTCTGGTGCCCGAGAGCCCGGTGCTGCCATCTTTAGTGAAAGAGTAAATGGTGGCCGAGGGCTCCTTTTGTGAGGGATGTGCCTTGGTGAAGAAGGCATGTTCCCTGCCGTGAAGATACTTGGAAGCTCTGGGTGGAGAGGGAAAAGGGATACCCCTGGTGCTCCCTGGGCCTGGCGGAAGGCTAGGAGGAAGGACAGCTGAGGTGAGGACTGAGTGGGGCAGGTATCACCCTGACAAACAGTTTGGGAAGATCAGGAAAGGCAGGTGAGACCTGGTGCAGAATCCAGGTTGGGTAATAGATACATCGTCGAAGATGTAGCAAGCAAAGTAATATACTCAACTCTGGAACATTGCACAGAAGCTTTTAAAGCACTCTGTGACACTTTTTGTAATGAGGGATCTGAAGGAAACGGCCCCAGAGTCACCCATCCCCACGGGTCTGGTTGGCGGGGCTGGTGCCTTTCTTCTGCACTCAGTCACCATGGCTCCGTCTGTCAAACTCAACTCTTTTTTTTTTTTTTTTTCTTCTCTTGGTGTGGTAATTTGTTTGAAGAGCCACTCCATCCCCAAATTCAAGATTAGATCCCTGACTGCTTCTCAAGATCCAGAACATTCCTTGACAGAGTATATTCACCATTTAGAAGTGATCCAGCAAAGATTGGGAGGGGTACTACCAGGTAATGCAAGTCCTCGCCGAGTATTTATTAAGCTGATTATCACTGTACCCTGGAAACGTAGGGTCTGTTGAAAGATGGCTGGTATTCAGCTTAGTAACCAAAGTTTCAGTCTGAACAATCAGTGTCACTAATAGTATTAGAATAGAGGCTACAAGTGAAGAATCTCACAGAAGTCTAAGCCAGTGTACTCAGTGATACGTGCTGAGGTCAGTTTGACTTAATCACCGTCTGGACTTTTTTGTCCTTTCTCTTACATTGATAGCGAACATAAAGATTATATTTCGACCAGGATATAATTTGTTCAGTGTTTCTTAAATATCATAATTTAAACCACTGTATAATTCATATTTTTACCAAAATTTACATGAATTCAGTGATAGTGTTTCAAAATTGTGGAATTCTTTTCAAAAAATCTGTGAAGCCTTGTAACCAATTTGCTGCCTCATTTTTATTTATATGCAGATTCTACTTCAAAGAAATCCTGCCACCCGATGATTAAACAGTGAATAAAATGTCATGGCTCTTTCCTGCGACAATTCTATTTGAGGAAAAGATTTGTTTTTCCCTTTTCCCAAGGAAGCTCGTGGGACAGCATGGGCACTACTCTTCATGTGCGGTGACACCAGCCCCCAGATGCCTTGAATTAAGTGTCCTCACCTTTATGCATGACTGCAAAGCCAGCTGGAGCATTTTCTATGGAGCCTCCGTATGTTTTAGGCCCATGACCTTCGTGAGGTGACGGGCACTCACTCCCATGAGCCCTGGCTGTGTGCTGTTGTGTGCCTATCGGCAGATCCATCCTTCCTGCCTCCAAGGAGGATACACAGAGAATGGCTTCCTGTTGTTTTGTTTATTTTCTTAACGTGTACAGATGGAAACTTCATTTAAAAATAAAAACAAAACAACTCAAAAAGGAATAAAATTTAATCACTGTTTTGTTTGTGAATAGCCCTTGTGTTGTTTTTTTTTTCCATTTTATCCATTTTATCAGTTTGCCTTTCTCACTGACTAAAAAATTGAGCAGAGAGTTTATGTTAAACTCGTAAGTCAAAAATTTTCAGTGGAACCCGGAGCATTCTTGAATAGCCACTTGACTGTTGTTTACTCTTACTTGGTTTCTTATTTTTTTAAAGATGCTGCCACTATGTATCCACCTCTCATGGCCATGCTTTTTGTTTTTGAGATGGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCGCCGCCTCCTGGGCTCAAGCAACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCAGGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTTTGAATTCCTGACCTCAAATGATCCATCCTCCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGGCTGTGCTTTTTTATGTTTCACTCATACTCGCTTAGACTAGACAGTAATACCTAGCCAAGGACCCTTTATCCAAAAATGTACTAGATGGGTATAATTTTTTTATTTTTAGAGACAAGGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCACAACTCACTGCAGCCTTGACCTACCAAGCCCAAATGATCCGCCTGCTTAGCCTCCCGAGTAGTTGGGACTACAGGTGCGCACCACCACGCCTGGCACTAATTTTCGTATTTCTTTTAGAGACAAGGTTTCACTTTGTTTCCCGGCCTGGTTTCAAGCTCCTGGCTCAAGCAATCCTACTGTCTCTGCCTCCCGAGTAGCTGGGAGTACAGGCACGCACTGCCACATTGAGCTAGTTGTTTTTTGTTTTTTTTTTTTTTTAAGTAGAGATGGAGTTTCACTCTGTTGCCCACACTGGTCTTGAACCCCTAGCTTCAAGTGATCCTNNNN
|
pathogenic
| 321,630 |
Evaluate this variant at chromosome 22, position 17181858, gene ADA2 (adenosine deaminase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Autoinflammatory_syndrome', 'Sneddon_syndrome', 'Vasculitis_due_to_ADA2_deficiency']
|
GAGTGACCTGATTTAATTTGATCTTTTAAAAGTCATTCTAGGCCAGGCCGGGTGGCTCACGCCTGTAATCCCAGTGCTTTGGGAGGCCGAGGCGGGTGGACCACGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCGCTGCACTCCACCCTGGGCAACAGAGCGAGACTCCATCTCAAACAAAACAAAACAAACAAACAAAATGTCATTCTACACTGTGAAAAATGAGCTGGAGGAGGCAAAGGGAAGAAAGGGGAGATCAGTGAGGAGGCTGTTGTCATAGCTCAGGCAGGAGTATGGTAGCTTGGACTTGGCAACAGCGTGCAGGTAGAGCACCACCGCTGGAGTCTGGATGCGGGATGCATTCTGATGTAGGGAGTGGGGGACCGCGCAGCATCAAGAAGCCACCGCTGGAGTCCAGATGAGGGATGCGTTCTGATGTAGGGAGTGGGGGACGGCGCAGCATCAAGACTTGCACTGAAAATTTCTGCTTTGAGCAACTGCGTGGAATGGATGGAGGTGTCCTTCACCAGCTATGGGAAAGGCCAGGGAAAGGTTTAAAGGGCTGAGTGTGGTGGCTCATGTCAGTAATCCCAGCACTTCGGGAGACTGCGGCAGGAGGATCACTTGAGTTGGAGACCAGCCTGGGCAACATAGCAAGACACTCTTTAGAAAAATTAAAGTAGAGAAAAAGAAAGGTTTAAAGGGAAGAGACTGAGGGTTCAGAATTGTACCTCATCAGTTTCTGAGATTCCTGTGAGCTCTCCAAGTGCATAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCACTTTGGGAGCCAAGGGGCGAGTGGATCACCTGAGGTCAAGAGTTGGATACCAGCCTCGCCAACATGGTGAAAACCTGTCTCTACTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCACATGCCTATAATTCCAACTACTCGCGAGGCTGATGCAAGAGAATTGCCTGAACCCGGGTGGCGGAGGTTGCACTGAGCTGAGATCGCACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGAAAAAATACAAAAATAAAAAAATAAAGAGACCAGAATAGAAGAGAGCCCAGGACTGAGTCCTGAGGAAACAGCACAGAGATCAGAGAGAGGAGAAGACTCTGAAATAGGGAAACTGGAAGAAATGGCCAGAGACAGGAGAAAACCAAGAGGGTCAATGTCACTGTGGCTGAGAGAGAATATTTCCAGAGGATGAATTTGCTCAGCCAGCCAAGTGCTTCTCACAGGGTCGCTCCATACAGAGGCCATTGATTTCATGGGCACATGGAGCTGATTCAAGAACGAGTGAGAGGAAGTGACAGCGTGTGCAAGAAGACAGCTTGTAGAGGGCTGGCTAGCTTCTCCTCACTTTGTAGCCACATCTGCTATGAACTTATCCCATCTCTTCTTCCAGATTTCCATGAAAGTATTTTTCTCACTCTCCAACAGGGTACTGTACCTGCAGGAAGAGGAGGAGCCCAGGTCAGCCTCAGGGCAGGGGTTGGGGAACGGGGCAGGGAGCCTGAGAGGACATTAGAGCCTTGCAGAGCACTCTCCCCAGGCCAGCAGCAAGGACTAAACAGCCATGATGAGAAGGAACCCACAGGAACCATCGAGGCATCTGCCTCAAGCCTCCAGAGAGGCAAACACAAGCTGCGGGCTGGAAGGAGGCGGGGGACCTGGGAGGACACAGGACACTCACTTGATAGAGTTCATGGCCAGCTGTTTGAGGGTCCTCAGGTCAGCCTTCATCCCCCCAATGCCCATGAAGACCTCATAGAAATCATAGGACAAGCCTTTGGCACCAAACATAGCTGGGTCATCAGAGCTGATCACCATGGGGTGCCCAGTGGCCATCAGAGTGGCTACAGGGTGGTTCCTCAAGTCAGACACCAGTTTCAGCACCTGCGCAATAGGAGGGAAGGGAGAAAGATGAACTCTGATCCCTAAAAAGAGTAGTCACAAGTGAGGTGAGACCTTGAGCCCCATCAGCTCCCTTCATCTTCCCATCACTATCTCCCCAGTATGGGGATGACTTCTGGGCAGAGTCACAAGGAGACATAAGGAACAGAGCCAGTCCTTATGCTCCTCCTCATGTTTCATCAGCACTGCAAACATCGGGTCACTTCTGTTCCTGCTCAGAGAAGCGCTAACTGAACACAGACACAAAGGACCCCAAGAAACCATGGGGAGCAGCATCCCATGGTCCGTCCCACTTCACTGGCCTCCCCCCATGTCCTTTTTGCTTTGTCTACAGTCTTGCCCAAAATTCCACCCCACTGGGGACCCTCACTGCTGCCTCATTCTTATTGGTGGCTTAGGCAAAAGGCCCCTCCTGAATAACTTTACTAACAGGGGTAGGAGAGTGGAGGGATGTAGGTAACAAGAGAGTTAAGGAGAGATAAGTTATACAGCAAAAAGTTTAAGAGAGCAGAGGTTGTGGTTAGGGGAGATCATATGGGATTAGCCACATGGGTCACACATACCTGGTTAGAGATGGGACAGACTTCTATGGGGATGTCCTTTTTCCAGGAGTAAGTCCTGACTGCGGGGTGTTTGCTCAAAGCAAATCCATGGCCGATTCTGGTAGTGTTCAGCATCAGAGCATCCAGAATGTTCCTGTCTATGGAAGTACCCTGCCAGTCTGAACACACGGGAATGGTCTTCCATGGGGGATGGATGGGTCTGGTCTTCCATGGGGGATGGATGGGTCTGACCCACCCGCCCCCCGACCATCCTCAAATAAACAGCCCCCCAAGCACAAAAATGAAGAGAAATTAACATTAACACAAATACACACACACAGTTTCCTTTTAACAATGCTAAAGAGAGGTATGATATGGCTTTATTAAATTAATCATCTAATTTATTAATTTATCATTCTAATGAGAAAGTTGAAACTTAATAGCTTCTATAAATTGACCAAGGATGTTCACACAGTAAGTAGCAAAACCGAGTTTTTTGTTGTTGTTGTTGTTGTTTTTTGAGACACAGTCTTGCTCTGTCGCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGGCACACGCCACCACGCCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATTTCTTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCACCTGGCCTGCAAAACTGAGTTTTAAACCTTCGTCTCTCTGACCCCACAGTCCGCTTTCCTTCTTCCTCTTTTGTGGCACTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCGGCTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTAGGCCTCCCAAAGTGCTGTGATTATAGGCATGAGCCACCGCACCGGGCTCTGGGACTCTTATGCTTATGATCTTTACAACAATATGTTACAGGTTCTCTTATTGACAACATCAGTATAACTACCTGTATGTGCTCACTTTAATTTATATATTTAATAGTACTGTCAAGATGTTATCACTCGCTAGATGACCGC
|
GAGTGACCTGATTTAATTTGATCTTTTAAAAGTCATTCTAGGCCAGGCCGGGTGGCTCACGCCTGTAATCCCAGTGCTTTGGGAGGCCGAGGCGGGTGGACCACGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCCGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCGCTGCACTCCACCCTGGGCAACAGAGCGAGACTCCATCTCAAACAAAACAAAACAAACAAACAAAATGTCATTCTACACTGTGAAAAATGAGCTGGAGGAGGCAAAGGGAAGAAAGGGGAGATCAGTGAGGAGGCTGTTGTCATAGCTCAGGCAGGAGTATGGTAGCTTGGACTTGGCAACAGCGTGCAGGTAGAGCACCACCGCTGGAGTCTGGATGCGGGATGCATTCTGATGTAGGGAGTGGGGGACCGCGCAGCATCAAGAAGCCACCGCTGGAGTCCAGATGAGGGATGCGTTCTGATGTAGGGAGTGGGGGACGGCGCAGCATCAAGACTTGCACTGAAAATTTCTGCTTTGAGCAACTGCGTGGAATGGATGGAGGTGTCCTTCACCAGCTATGGGAAAGGCCAGGGAAAGGTTTAAAGGGCTGAGTGTGGTGGCTCATGTCAGTAATCCCAGCACTTCGGGAGACTGCGGCAGGAGGATCACTTGAGTTGGAGACCAGCCTGGGCAACATAGCAAGACACTCTTTAGAAAAATTAAAGTAGAGAAAAAGAAAGGTTTAAAGGGAAGAGACTGAGGGTTCAGAATTGTACCTCATCAGTTTCTGAGATTCCTGTGAGCTCTCCAAGTGCATAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCACTTTGGGAGCCAAGGGGCGAGTGGATCACCTGAGGTCAAGAGTTGGATACCAGCCTCGCCAACATGGTGAAAACCTGTCTCTACTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCACATGCCTATAATTCCAACTACTCGCGAGGCTGATGCAAGAGAATTGCCTGAACCCGGGTGGCGGAGGTTGCACTGAGCTGAGATCGCACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGAAAAAATACAAAAATAAAAAAATAAAGAGACCAGAATAGAAGAGAGCCCAGGACTGAGTCCTGAGGAAACAGCACAGAGATCAGAGAGAGGAGAAGACTCTGAAATAGGGAAACTGGAAGAAATGGCCAGAGACAGGAGAAAACCAAGAGGGTCAATGTCACTGTGGCTGAGAGAGAATATTTCCAGAGGATGAATTTGCTCAGCCAGCCAAGTGCTTCTCACAGGGTCGCTCCATACAGAGGCCATTGATTTCATGGGCACATGGAGCTGATTCAAGAACGAGTGAGAGGAAGTGACAGCGTGTGCAAGAAGACAGCTTGTAGAGGGCTGGCTAGCTTCTCCTCACTTTGTAGCCACATCTGCTATGAACTTATCCCATCTCTTCTTCCAGATTTCCATGAAAGTATTTTTCTCACTCTCCAACAGGGTACTGTACCTGCAGGAAGAGGAGGAGCCCAGGTCAGCCTCAGGGCAGGGGTTGGGGAACGGGGCAGGGAGCCTGAGAGGACATTAGAGCCTTGCAGAGCACTCTCCCCAGGCCAGCAGCAAGGACTAAACAGCCATGATGAGAAGGAACCCACAGGAACCATCGAGGCATCTGCCTCAAGCCTCCAGAGAGGCAAACACAAGCTGCGGGCTGGAAGGAGGCGGGGGACCTGGGAGGACACAGGACACTCACTTGATAGAGTTCATGGCCAGCTGTTTGAGGGTCCTCAGGTCATCCCCCCAATGCCCATGAAGACCTCATAGAAATCATAGGACAAGCCTTTGGCACCAAACATAGCTGGGTCATCAGAGCTGATCACCATGGGGTGCCCAGTGGCCATCAGAGTGGCTACAGGGTGGTTCCTCAAGTCAGACACCAGTTTCAGCACCTGCGCAATAGGAGGGAAGGGAGAAAGATGAACTCTGATCCCTAAAAAGAGTAGTCACAAGTGAGGTGAGACCTTGAGCCCCATCAGCTCCCTTCATCTTCCCATCACTATCTCCCCAGTATGGGGATGACTTCTGGGCAGAGTCACAAGGAGACATAAGGAACAGAGCCAGTCCTTATGCTCCTCCTCATGTTTCATCAGCACTGCAAACATCGGGTCACTTCTGTTCCTGCTCAGAGAAGCGCTAACTGAACACAGACACAAAGGACCCCAAGAAACCATGGGGAGCAGCATCCCATGGTCCGTCCCACTTCACTGGCCTCCCCCCATGTCCTTTTTGCTTTGTCTACAGTCTTGCCCAAAATTCCACCCCACTGGGGACCCTCACTGCTGCCTCATTCTTATTGGTGGCTTAGGCAAAAGGCCCCTCCTGAATAACTTTACTAACAGGGGTAGGAGAGTGGAGGGATGTAGGTAACAAGAGAGTTAAGGAGAGATAAGTTATACAGCAAAAAGTTTAAGAGAGCAGAGGTTGTGGTTAGGGGAGATCATATGGGATTAGCCACATGGGTCACACATACCTGGTTAGAGATGGGACAGACTTCTATGGGGATGTCCTTTTTCCAGGAGTAAGTCCTGACTGCGGGGTGTTTGCTCAAAGCAAATCCATGGCCGATTCTGGTAGTGTTCAGCATCAGAGCATCCAGAATGTTCCTGTCTATGGAAGTACCCTGCCAGTCTGAACACACGGGAATGGTCTTCCATGGGGGATGGATGGGTCTGGTCTTCCATGGGGGATGGATGGGTCTGACCCACCCGCCCCCCGACCATCCTCAAATAAACAGCCCCCCAAGCACAAAAATGAAGAGAAATTAACATTAACACAAATACACACACACAGTTTCCTTTTAACAATGCTAAAGAGAGGTATGATATGGCTTTATTAAATTAATCATCTAATTTATTAATTTATCATTCTAATGAGAAAGTTGAAACTTAATAGCTTCTATAAATTGACCAAGGATGTTCACACAGTAAGTAGCAAAACCGAGTTTTTTGTTGTTGTTGTTGTTGTTTTTTGAGACACAGTCTTGCTCTGTCGCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGGCACACGCCACCACGCCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATTTCTTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCACCTGGCCTGCAAAACTGAGTTTTAAACCTTCGTCTCTCTGACCCCACAGTCCGCTTTCCTTCTTCCTCTTTTGTGGCACTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCGGCTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTAGGCCTCCCAAAGTGCTGTGATTATAGGCATGAGCCACCGCACCGGGCTCTGGGACTCTTATGCTTATGATCTTTACAACAATATGTTACAGGTTCTCTTATTGACAACATCAGTATAACTACCTGTATGTGCTCACTTTAATTTATATATTTAATAGTACTGTCAAGATGTTATCACTCGCTAGATGACCGCNNNNNNN
|
pathogenic
| 321,710 |
The genetic variant at chromosome 22, position 17182776, affecting gene ADA2 (adenosine deaminase 2): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
TAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCACTTTGGGAGCCAAGGGGCGAGTGGATCACCTGAGGTCAAGAGTTGGATACCAGCCTCGCCAACATGGTGAAAACCTGTCTCTACTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCACATGCCTATAATTCCAACTACTCGCGAGGCTGATGCAAGAGAATTGCCTGAACCCGGGTGGCGGAGGTTGCACTGAGCTGAGATCGCACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGAAAAAATACAAAAATAAAAAAATAAAGAGACCAGAATAGAAGAGAGCCCAGGACTGAGTCCTGAGGAAACAGCACAGAGATCAGAGAGAGGAGAAGACTCTGAAATAGGGAAACTGGAAGAAATGGCCAGAGACAGGAGAAAACCAAGAGGGTCAATGTCACTGTGGCTGAGAGAGAATATTTCCAGAGGATGAATTTGCTCAGCCAGCCAAGTGCTTCTCACAGGGTCGCTCCATACAGAGGCCATTGATTTCATGGGCACATGGAGCTGATTCAAGAACGAGTGAGAGGAAGTGACAGCGTGTGCAAGAAGACAGCTTGTAGAGGGCTGGCTAGCTTCTCCTCACTTTGTAGCCACATCTGCTATGAACTTATCCCATCTCTTCTTCCAGATTTCCATGAAAGTATTTTTCTCACTCTCCAACAGGGTACTGTACCTGCAGGAAGAGGAGGAGCCCAGGTCAGCCTCAGGGCAGGGGTTGGGGAACGGGGCAGGGAGCCTGAGAGGACATTAGAGCCTTGCAGAGCACTCTCCCCAGGCCAGCAGCAAGGACTAAACAGCCATGATGAGAAGGAACCCACAGGAACCATCGAGGCATCTGCCTCAAGCCTCCAGAGAGGCAAACACAAGCTGCGGGCTGGAAGGAGGCGGGGGACCTGGGAGGACACAGGACACTCACTTGATAGAGTTCATGGCCAGCTGTTTGAGGGTCCTCAGGTCAGCCTTCATCCCCCCAATGCCCATGAAGACCTCATAGAAATCATAGGACAAGCCTTTGGCACCAAACATAGCTGGGTCATCAGAGCTGATCACCATGGGGTGCCCAGTGGCCATCAGAGTGGCTACAGGGTGGTTCCTCAAGTCAGACACCAGTTTCAGCACCTGCGCAATAGGAGGGAAGGGAGAAAGATGAACTCTGATCCCTAAAAAGAGTAGTCACAAGTGAGGTGAGACCTTGAGCCCCATCAGCTCCCTTCATCTTCCCATCACTATCTCCCCAGTATGGGGATGACTTCTGGGCAGAGTCACAAGGAGACATAAGGAACAGAGCCAGTCCTTATGCTCCTCCTCATGTTTCATCAGCACTGCAAACATCGGGTCACTTCTGTTCCTGCTCAGAGAAGCGCTAACTGAACACAGACACAAAGGACCCCAAGAAACCATGGGGAGCAGCATCCCATGGTCCGTCCCACTTCACTGGCCTCCCCCCATGTCCTTTTTGCTTTGTCTACAGTCTTGCCCAAAATTCCACCCCACTGGGGACCCTCACTGCTGCCTCATTCTTATTGGTGGCTTAGGCAAAAGGCCCCTCCTGAATAACTTTACTAACAGGGGTAGGAGAGTGGAGGGATGTAGGTAACAAGAGAGTTAAGGAGAGATAAGTTATACAGCAAAAAGTTTAAGAGAGCAGAGGTTGTGGTTAGGGGAGATCATATGGGATTAGCCACATGGGTCACACATACCTGGTTAGAGATGGGACAGACTTCTATGGGGATGTCCTTTTTCCAGGAGTAAGTCCTGACTGCGGGGTGTTTGCTCAAAGCAAATCCATGGCCGATTCTGGTAGTGTTCAGCATCAGAGCATCCAGAATGTTCCTGTCTATGGAAGTACCCTGCCAGTCTGAACACACGGGAATGGTCTTCCATGGGGGATGGATGGGTCTGGTCTTCCATGGGGGATGGATGGGTCTGACCCACCCGCCCCCCGACCATCCTCAAATAAACAGCCCCCCAAGCACAAAAATGAAGAGAAATTAACATTAACACAAATACACACACACAGTTTCCTTTTAACAATGCTAAAGAGAGGTATGATATGGCTTTATTAAATTAATCATCTAATTTATTAATTTATCATTCTAATGAGAAAGTTGAAACTTAATAGCTTCTATAAATTGACCAAGGATGTTCACACAGTAAGTAGCAAAACCGAGTTTTTTGTTGTTGTTGTTGTTGTTTTTTGAGACACAGTCTTGCTCTGTCGCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGGCACACGCCACCACGCCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATTTCTTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCACCTGGCCTGCAAAACTGAGTTTTAAACCTTCGTCTCTCTGACCCCACAGTCCGCTTTCCTTCTTCCTCTTTTGTGGCACTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCGGCTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTAGGCCTCCCAAAGTGCTGTGATTATAGGCATGAGCCACCGCACCGGGCTCTGGGACTCTTATGCTTATGATCTTTACAACAATATGTTACAGGTTCTCTTATTGACAACATCAGTATAACTACCTGTATGTGCTCACTTTAATTTATATATTTAATAGTACTGTCAAGATGTTATCACTCGCTAGATGACCGCAGACAGTCTTGTGGCCTCCCTTCTCCCCTGCCATCCCCATCACACCTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAAGCTCCACTTCCCGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTGATTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCACCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCCATCACACCTTTCTTGCAGCTAGGGCCCTCGGTAGAGGATGAAAGGTCAGATGTGCCTTTCTCAGTCTCCCTTACAGCTAAAATAGCCTTAACGCTGGACTGGGAGGTTATTTGTTGGGGAGCTTTGGGGGATTCCTCCCTGATAAAAGGGGATCCACTGGGAGGCTGTCTCCTATTTTGCTTCACTGGATGTGGTCACCCCAAATGTGATTCACCATCCGACAACCAAGTGGGGCAGAATCACCCACACAATGGGCATAGCACAGATTGCTTCTTACGTGAGATAACAAATGTCCTTATTGTAAAATCGGTGGGATGCATGTACTCTATTCTTGCAGCCATAAGCATTCTAATGGATTCACATATAAAATATGAACATCTGGCTGGGTGCGGTGGCTCACACCTGTAATCGCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCAAGGCCAGCCATGGGCAACATAGAGACACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGGCTGCAGTCCCAGCTACTTAG
|
TAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCACTTTGGGAGCCAAGGGGCGAGTGGATCACCTGAGGTCAAGAGTTGGATACCAGCCTCGCCAACATGGTGAAAACCTGTCTCTACTAAAAATGCAAAAATCAGCTGGGTGTGGTGGCACATGCCTATAATTCCAACTACTCGCGAGGCTGATGCAAGAGAATTGCCTGAACCCGGGTGGCGGAGGTTGCACTGAGCTGAGATCGCACCATTGTACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCGAAAAAATACAAAAATAAAAAAATAAAGAGACCAGAATAGAAGAGAGCCCAGGACTGAGTCCTGAGGAAACAGCACAGAGATCAGAGAGAGGAGAAGACTCTGAAATAGGGAAACTGGAAGAAATGGCCAGAGACAGGAGAAAACCAAGAGGGTCAATGTCACTGTGGCTGAGAGAGAATATTTCCAGAGGATGAATTTGCTCAGCCAGCCAAGTGCTTCTCACAGGGTCGCTCCATACAGAGGCCATTGATTTCATGGGCACATGGAGCTGATTCAAGAACGAGTGAGAGGAAGTGACAGCGTGTGCAAGAAGACAGCTTGTAGAGGGCTGGCTAGCTTCTCCTCACTTTGTAGCCACATCTGCTATGAACTTATCCCATCTCTTCTTCCAGATTTCCATGAAAGTATTTTTCTCACTCTCCAACAGGGTACTGTACCTGCAGGAAGAGGAGGAGCCCAGGTCAGCCTCAGGGCAGGGGTTGGGGAACGGGGCAGGGAGCCTGAGAGGACATTAGAGCCTTGCAGAGCACTCTCCCCAGGCCAGCAGCAAGGACTAAACAGCCATGATGAGAAGGAACCCACAGGAACCATCGAGGCATCTGCCTCAAGCCTCCAGAGAGGCAAACACAAGCTGCGGGCTGGAAGGAGGCGGGGGACCTGGGAGGACACAGGACACTCACTTGATAGAGTTCATGGCCAGCTGTTTGAGGGTCCTCAGGTCAGCCTTCATCCCCCCAATGCCCATGAAGACCTCATAGAAATCATAGGACAAGCCTTTGGCACCAAACATAGCTGGGTCATCAGAGCTGATCACCATGGGGTGCCCAGTGGCCATCAGAGTGGCTACAGGGTGGTTCCTCAAGTCAGACACCAGTTTCAGCACCTGCGCAATAGGAGGGAAGGGAGAAAGATGAACTCTGATCCCTAAAAAGAGTAGTCACAAGTGAGGTGAGACCTTGAGCCCCATCAGCTCCCTTCATCTTCCCATCACTATCTCCCCAGTATGGGGATGACTTCTGGGCAGAGTCACAAGGAGACATAAGGAACAGAGCCAGTCCTTATGCTCCTCCTCATGTTTCATCAGCACTGCAAACATCGGGTCACTTCTGTTCCTGCTCAGAGAAGCGCTAACTGAACACAGACACAAAGGACCCCAAGAAACCATGGGGAGCAGCATCCCATGGTCCGTCCCACTTCACTGGCCTCCCCCCATGTCCTTTTTGCTTTGTCTACAGTCTTGCCCAAAATTCCACCCCACTGGGGACCCTCACTGCTGCCTCATTCTTATTGGTGGCTTAGGCAAAAGGCCCCTCCTGAATAACTTTACTAACAGGGGTAGGAGAGTGGAGGGATGTAGGTAACAAGAGAGTTAAGGAGAGATAAGTTATACAGCAAAAAGTTTAAGAGAGCAGAGGTTGTGGTTAGGGGAGATCATATGGGATTAGCCACATGGGTCACACATACCTGGTTAGAGATGGGACAGACTTCTATGGGGATGTCCTTTTTCCAGGAGTAAGTCCTGACTGCGGGGTGTTTGCTCAAAGCAAATCCATGGCCGATTCTGGTAGTGTTCAGCATCAGAGCATCCAGAATGTTCCTGTCTATGGAAGTACCCTGCCAGTCTGAACACACGGGAATGGTCTTCCATGGGGGATGGATGGGTCTGACCCACCCGCCCCCCGACCATCCTCAAATAAACAGCCCCCCAAGCACAAAAATGAAGAGAAATTAACATTAACACAAATACACACACACAGTTTCCTTTTAACAATGCTAAAGAGAGGTATGATATGGCTTTATTAAATTAATCATCTAATTTATTAATTTATCATTCTAATGAGAAAGTTGAAACTTAATAGCTTCTATAAATTGACCAAGGATGTTCACACAGTAAGTAGCAAAACCGAGTTTTTTGTTGTTGTTGTTGTTGTTTTTTGAGACACAGTCTTGCTCTGTCGCCAGGCTGGAGTACAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACAATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGGCACACGCCACCACGCCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATTTCTTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCACCTGGCCTGCAAAACTGAGTTTTAAACCTTCGTCTCTCTGACCCCACAGTCCGCTTTCCTTCTTCCTCTTTTGTGGCACTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCGGCTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCGGCCAGGCCGGTCTCAAACTCCTGACCTCAGGGGATCCACCCGCCTAGGCCTCCCAAAGTGCTGTGATTATAGGCATGAGCCACCGCACCGGGCTCTGGGACTCTTATGCTTATGATCTTTACAACAATATGTTACAGGTTCTCTTATTGACAACATCAGTATAACTACCTGTATGTGCTCACTTTAATTTATATATTTAATAGTACTGTCAAGATGTTATCACTCGCTAGATGACCGCAGACAGTCTTGTGGCCTCCCTTCTCCCCTGCCATCCCCATCACACCTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAAGCTCCACTTCCCGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTGATTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCACCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCCCATCACACCTTTCTTGCAGCTAGGGCCCTCGGTAGAGGATGAAAGGTCAGATGTGCCTTTCTCAGTCTCCCTTACAGCTAAAATAGCCTTAACGCTGGACTGGGAGGTTATTTGTTGGGGAGCTTTGGGGGATTCCTCCCTGATAAAAGGGGATCCACTGGGAGGCTGTCTCCTATTTTGCTTCACTGGATGTGGTCACCCCAAATGTGATTCACCATCCGACAACCAAGTGGGGCAGAATCACCCACACAATGGGCATAGCACAGATTGCTTCTTACGTGAGATAACAAATGTCCTTATTGTAAAATCGGTGGGATGCATGTACTCTATTCTTGCAGCCATAAGCATTCTAATGGATTCACATATAAAATATGAACATCTGGCTGGGTGCGGTGGCTCACACCTGTAATCGCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCAAGGCCAGCCATGGGCAACATAGAGACACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGGCTGCAGTCCCAGCTACTTAGNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 321,720 |
Is the genetic change at chromosome 22, position 17189972, within gene ADA2 (adenosine deaminase 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Sneddon_syndrome', 'Vasculitis_due_to_ADA2_deficiency']
|
GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTACCAGCTACTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGCCTCTGCTCGCATCCCGCAGGCTCACCTGTTTCTCCGGCGTGGAAGAAGTAAGGCAGCTTAACGCCATCCTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAGTGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCAGGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCCTTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTAAGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAACTTGCAGTGAGCTGAGATCACACCAATGCACTACAGCCTGGCCAAGAGCAAAAAATATATATATATATATATTTTGTAAAGACGGGGTCTCACCGATTTGCTCAGGCTGGTCTAGAACTCCTGGACTCAGGTGACCCTCCCACCTTGGCCCCCCAAGGTGCTGGGATTACAGGAGTGAGCCACTGCCCTGGACTAATCTAGATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCAGGCCACCAAGGCTGGCTAATTTTTGTGTTTTTAGTAGAGATGCGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTTCAGACCTCAGGTGATCCACCTGTCTCGCCCTCCCAAAGTGCTGAGGGCATGAGCCACTGCACCCGGCCTAGATTCTTTATGAGATTGCCGAGCTGTCACCTAAGAAATGTCCTGGTTGTGCTTCGATTTGGTGGGGAGGTGTGGGACAATGACAACACCTATGAATGTGTAGCTTCAAAAACTGGTGTGGCCAGGCATGATGGCTGGAGAGGGAGGGACAAATATCACTACCTTGAGGATTTGCAAAGGCCTGGCTCCATCCTGGACTCTGTTTCCAGACATTACCCCCCAGTCCCCACCCCGCGTGCTACAGGGGCTGGTGAGGGTTTTAAGACCCACACCTAGGTGAGCAGTGTGGGATAGAAAAAAGGGCACAGGCAGGGCCATGGGGAATGAGCCCATAACTGTGGTCCAAACTCCCTGAATGCCATCCTTATTCTGGAACTTTCCTTGTTAGCTTGTTAGAACTGGCTGTCTGCTCTCCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACATGGATGCAGCTCAGGGGCAGCTCTCTGTCCACTGCACACCTGCAAAGGGCCACAGGTCACCCAAGTCCCTGATGGGTCGGCTGGACCCAGTAACCATATGGCCTCTTGCTGATTAAGTCAGCAAGATCCTGGGTACTGCAGAACCCTACAGGGGCAAGGCAGGCAGCATGACAACAAAAGCCCCAAAACACAGGGTCTGGCGCAAGCCCACGACAGGCTCAAGGTCTTTGCCCTGCCACTGGCTCTCCTGCTCCAATCCTCGGCTCTGTGGGGATAAAGCCTTCCTGGCCTGCCCCACCCATGGCCTCTCCCCAGAGCCTAGGCAAACCTGGGGGCACTGATGCACTCAGCTCAGCCCTCACACCCTCCTGCCACTGGCCCTGGGAAGGGGCACCTGGCACCAGGGAGCCTCTGAGCAGAACGTGGGCCCATCCTGCAAGCTCCCTCCTAGGGGGACCGGCACAAAGCCAGAGCTTAGCTCCTCCAGGCCCCAGGCCCCATGGAAGGGAAGGGGACTCAGGAAGACTGGGCATGGGAGGAGGCTCCTGGGGAGTCAGTGCCCTCCAGAGCCCAGGCTCGTGGGTGAGCTGAGCAGAGGGAGCCGCTGCCGGATCCCTTCGGTGCCCGCCCCGTGCCTGACTCCGAGGGACCCCACTGGCTGCTGCCCTTGCAGCTGCGACCATGGACAGGTCCCAGCCTTAGACTGGCTGCTCTTTAAAGTGAGGGGAGGGGTCTTGTCTGGTAAAGTCAGAAGGACAATTAAGCTGCAAAGCTTTCTGTGCTTCCCTGGGAAAAAGAGTGGGTCTTTCACCCACGTGCCAGGCCACGCACATGGTACTACTGGAGGTCCCCACACGCAGACTTGAGCCAGTGCCACTCAGGGTGTCTCCGTGATCAAGGACTCACACACAACCACACACAGAACCCAGAGGCAAATTGAAACCAAAAACGGGCCAATTATCCAAACATTCAGGCAAAACCATTATGCTCATAAATGAGTCACCAGGCCAATGTGGGGTCACAGCCGAGAATTATCTGGGAAATTCACACATTCTTCATTTCAGTTTGGGGGTGAAGACCTGAACTAGAAGTGGCTTCAGGCAGCAATTCATTGTTGGGTCACCGCACTTACCTAGGACTGTGCTCTCACACAGGCACAGCACAGCTCCTTGGCACCAGTGCTGGGCCTCTCCCGGCCTCCCAGCCCCGCTTCTCACCCCTCCCCTCCCAGCCTAGTAGCTCTGCCTGCATCCCAGCCTCCCAACCCGAGCTTTTCAGCAATATTCTCTCTCACCTGTGATCCGAATAAATGATTTTGATTCCAATAAACTCAGGGTGAGTTTCCACAAACTTCTGAGCTACTTCCTGGTAAGTCTTCACTGACCACTCTTCGTCATGGTGCTCTCCACTGAGCTCATACACCTGGGAAGAAAGCACAACCAGGAGCCGTCAGGTGAGCAGTGAGAGACGCCACCCCCTTCCCAGCCACCCCTGCCCAGCCACCCCTGGCCAGCCACCCCTGCCCAACCACCCCCTTCCCAGCCACCCCTTCCCAGCCACCCTTGCCCAGCCACCCCTGCCCAGCCACCCTTGCCCAGCCACCTCCTTCCCAGTCAACTCCTTCCCAGCCA
|
GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTACCAGCTACTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGCCTCTGCTCGCATCCCGCAGGCTCACCTGTTTCTCCGGCGTGGAAGAAGTAAGGCAGCTTAACGCCATCCTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAGTGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCAGGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCCTTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTAAGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAACTTGCAGTGAGCTGAGATCACACCAATGCACTACAGCCTGGCCAAGAGCAAAAAATATATATATATATATATTTTGTAAAGACGGGGTCTCACCGATTTGCTCAGGCTGGTCTAGAACTCCTGGACTCAGGTGACCCTCCCACCTTGGCCCCCCAAGGTGCTGGGATTACAGGAGTGAGCCACTGCCCTGGACTAATCTAGATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCAGGCCACCAAGGCTGGCTAATTTTTGTGTTTTTAGTAGAGATGCGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTTCAGACCTCAGGTGATCCACCTGTCTCGCCCTCCCAAAGTGCTGAGGGCATGAGCCACTGCACCCGGCCTAGATTCTTTATGAGATTGCCGAGCTGTCACCTAAGAAATGTCCTGGTTGTGCTTCGATTTGGTGGGGAGGTGTGGGACAATGACAACACCTATGAATGTGTAGCTTCAAAAACTGGTGTGGCCAGGCATGATGGCTGGAGAGGGAGGGACAAATATCACTACCTTGAGGATTTGCAAAGGCCTGGCTCCATCCTGGACTCTGTTTCCAGACATTACCCCCCAGTCCCCACCCCGCGTGCTACAGGGGCTGGTGAGGGTTTTAAGACCCACACCTAGGTGAGCAGTGTGGGATAGAAAAAAGGGCACAGGCAGGGCCATGGGGAATGAGCCCATAACTGTGGTCCAAACTCCCTGAATGCCATCCTTATTCTGGAACTTTCCTTGTTAGCTTGTTAGAACTGGCTGTCTGCTCTCCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACATGGATGCAGCTCAGGGGCAGCTCTCTGTCCACTGCACACCTGCAAAGGGCCACAGGTCACCCAAGTCCCTGATGGGTCGGCTGGACCCAGTAACCATATGGCCTCTTGCTGATTAAGTCAGCAAGATCCTGGGTACTGCAGAACCCTACAGGGGCAAGGCAGGCAGCATGACAACAAAAGCCCCAAAACACAGGGTCTGGCGCAAGCCCACGACAGGCTCAAGGTCTTTGCCCTGCCACTGGCTCTCCTGCTCCAATCCTCGGCTCTGTGGGGATAAAGCCTTCCTGGCCTGCCCCACCCATGGCCTCTCCCCAGAGCCTAGGCAAACCTGGGGGCACTGATGCACTCAGCTCAGCCCTCACACCCTCCTGCCACTGGCCCTGGGAAGGGGCACCTGGCACCAGGGAGCCTCTGAGCAGAACGTGGGCCCATCCTGCAAGCTCCCTCCTAGGGGGACCGGCACAAAGCCAGAGCTTAGCTCCTCCAGGCCCCAGGCCCCATGGAAGGGAAGGGGACTCAGGAAGACTGGGCATGGGAGGAGGCTCCTGGGGAGTCAGTGCCCTCCAGAGCCCAGGCTCGTGGGTGAGCTGAGCAGAGGGAGCCGCTGCCGGATCCCTTCGGTGCCCGCCCCGTGCCTGACTCCGAGGGACCCCACTGGCTGCTGCCCTTGCAGCTGCGACCATGGACAGGTCCCAGCCTTAGACTGGCTGCTCTTTAAAGTGAGGGGAGGGGTCTTGTCTGGTAAAGTCAGAAGGACAATTAAGCTGCAAAGCTTTCTGTGCTTCCCTGGGAAAAAGAGTGGGTCTTTCACCCACGTGCCAGGCCACGCACATGGTACTACTGGAGGTCCCCACACGCAGACTTGAGCCAGTGCCACTCAGGGTGTCTCCGTGATCAAGGACTCACACACAACCACACACAGAACCCAGAGGCAAATTGAAACCAAAAACGGGCCAATTATCCAAACATTCAGGCAAAACCATTATGCTCATAAATGAGTCACCAGGCCAATGTGGGGTCACAGCCGAGAATTATCTGGGAAATTCACACATTCTTCATTTCAGTTTGGGGGTGAAGACCTGAACTAGAAGTGGCTTCAGGCAGCAATTCATTGTTGGGTCACCGCACTTACCTAGGACTGTGCTCTCACACAGGCACAGCACAGCTCCTTGGCACCAGTGCTGGGCCTCTCCCGGCCTCCCAGCCCCGCTTCTCACCCCTCCCCTCCCAGCCTAGTAGCTCTGCCTGCATCCCAGCCTCCCAACCCGAGCTTTTCAGCAATATTCTCTCTCACCTGTGATCCGAATAAATGATTTTGATTCCAATAAACTCAGGGTGAGTTTCCACAAACTTCTGAGCTACTTCCTGGTAAGTCTTCACTGACCACTCTTCGTCATGGTGCTCTCCACTGAGCTCATACACCTGGGAAGAAAGCACAACCAGGAGCCGTCAGGTGAGCAGTGAGAGACGCCACCCCCTTCCCAGCCACCCCTGCCCAGCCACCCCTGGCCAGCCACCCCTGCCCAACCACCCCCTTCCCAGCCACCCCTTCCCAGCCACCCTTGCCCAGCCACCCCTGCCCAGCCACCCTTGCCCAGCCACCTCCTTCCCAGTCAACTCCTTCCCAGCCANN
|
pathogenic
| 321,739 |
Is the chromosome 22, position 17190042 variant in ADA2 (adenosine deaminase 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
CTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGCCTCTGCTCGCATCCCGCAGGCTCACCTGTTTCTCCGGCGTGGAAGAAGTAAGGCAGCTTAACGCCATCCTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAGTGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCAGGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCCTTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTAAGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAACTTGCAGTGAGCTGAGATCACACCAATGCACTACAGCCTGGCCAAGAGCAAAAAATATATATATATATATATTTTGTAAAGACGGGGTCTCACCGATTTGCTCAGGCTGGTCTAGAACTCCTGGACTCAGGTGACCCTCCCACCTTGGCCCCCCAAGGTGCTGGGATTACAGGAGTGAGCCACTGCCCTGGACTAATCTAGATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCAGGCCACCAAGGCTGGCTAATTTTTGTGTTTTTAGTAGAGATGCGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTTCAGACCTCAGGTGATCCACCTGTCTCGCCCTCCCAAAGTGCTGAGGGCATGAGCCACTGCACCCGGCCTAGATTCTTTATGAGATTGCCGAGCTGTCACCTAAGAAATGTCCTGGTTGTGCTTCGATTTGGTGGGGAGGTGTGGGACAATGACAACACCTATGAATGTGTAGCTTCAAAAACTGGTGTGGCCAGGCATGATGGCTGGAGAGGGAGGGACAAATATCACTACCTTGAGGATTTGCAAAGGCCTGGCTCCATCCTGGACTCTGTTTCCAGACATTACCCCCCAGTCCCCACCCCGCGTGCTACAGGGGCTGGTGAGGGTTTTAAGACCCACACCTAGGTGAGCAGTGTGGGATAGAAAAAAGGGCACAGGCAGGGCCATGGGGAATGAGCCCATAACTGTGGTCCAAACTCCCTGAATGCCATCCTTATTCTGGAACTTTCCTTGTTAGCTTGTTAGAACTGGCTGTCTGCTCTCCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACATGGATGCAGCTCAGGGGCAGCTCTCTGTCCACTGCACACCTGCAAAGGGCCACAGGTCACCCAAGTCCCTGATGGGTCGGCTGGACCCAGTAACCATATGGCCTCTTGCTGATTAAGTCAGCAAGATCCTGGGTACTGCAGAACCCTACAGGGGCAAGGCAGGCAGCATGACAACAAAAGCCCCAAAACACAGGGTCTGGCGCAAGCCCACGACAGGCTCAAGGTCTTTGCCCTGCCACTGGCTCTCCTGCTCCAATCCTCGGCTCTGTGGGGATAAAGCCTTCCTGGCCTGCCCCACCCATGGCCTCTCCCCAGAGCCTAGGCAAACCTGGGGGCACTGATGCACTCAGCTCAGCCCTCACACCCTCCTGCCACTGGCCCTGGGAAGGGGCACCTGGCACCAGGGAGCCTCTGAGCAGAACGTGGGCCCATCCTGCAAGCTCCCTCCTAGGGGGACCGGCACAAAGCCAGAGCTTAGCTCCTCCAGGCCCCAGGCCCCATGGAAGGGAAGGGGACTCAGGAAGACTGGGCATGGGAGGAGGCTCCTGGGGAGTCAGTGCCCTCCAGAGCCCAGGCTCGTGGGTGAGCTGAGCAGAGGGAGCCGCTGCCGGATCCCTTCGGTGCCCGCCCCGTGCCTGACTCCGAGGGACCCCACTGGCTGCTGCCCTTGCAGCTGCGACCATGGACAGGTCCCAGCCTTAGACTGGCTGCTCTTTAAAGTGAGGGGAGGGGTCTTGTCTGGTAAAGTCAGAAGGACAATTAAGCTGCAAAGCTTTCTGTGCTTCCCTGGGAAAAAGAGTGGGTCTTTCACCCACGTGCCAGGCCACGCACATGGTACTACTGGAGGTCCCCACACGCAGACTTGAGCCAGTGCCACTCAGGGTGTCTCCGTGATCAAGGACTCACACACAACCACACACAGAACCCAGAGGCAAATTGAAACCAAAAACGGGCCAATTATCCAAACATTCAGGCAAAACCATTATGCTCATAAATGAGTCACCAGGCCAATGTGGGGTCACAGCCGAGAATTATCTGGGAAATTCACACATTCTTCATTTCAGTTTGGGGGTGAAGACCTGAACTAGAAGTGGCTTCAGGCAGCAATTCATTGTTGGGTCACCGCACTTACCTAGGACTGTGCTCTCACACAGGCACAGCACAGCTCCTTGGCACCAGTGCTGGGCCTCTCCCGGCCTCCCAGCCCCGCTTCTCACCCCTCCCCTCCCAGCCTAGTAGCTCTGCCTGCATCCCAGCCTCCCAACCCGAGCTTTTCAGCAATATTCTCTCTCACCTGTGATCCGAATAAATGATTTTGATTCCAATAAACTCAGGGTGAGTTTCCACAAACTTCTGAGCTACTTCCTGGTAAGTCTTCACTGACCACTCTTCGTCATGGTGCTCTCCACTGAGCTCATACACCTGGGAAGAAAGCACAACCAGGAGCCGTCAGGTGAGCAGTGAGAGACGCCACCCCCTTCCCAGCCACCCCTGCCCAGCCACCCCTGGCCAGCCACCCCTGCCCAACCACCCCCTTCCCAGCCACCCCTTCCCAGCCACCCTTGCCCAGCCACCCCTGCCCAGCCACCCTTGCCCAGCCACCTCCTTCCCAGTCAACTCCTTCCCAGCCATCAACGAGCTCTGGGAAAAGTAGATGGGGTCAGGGGACCCACAAAACAGTTTTATTTGTGTTTGGATTAG
|
CTTGGAAGGCTGAGGCAGGAGACTCTCTTGAACCTGGGAAGCCGAGGTTGCAGTGAGCTGGGCGACAGAGGGAGACTCCGTAAAAAAAAGAAAAAAAAAGAAGAAGAAGAAAAGAAAACAGGAAGGAAAGAAGAAAGAGAAACTAGAAATAATACATGTAAAGTGGCTGATTCTATTATCCTTGTTATTCCTTCTCCATGGGGCTGTTGTCAGGATTAAGTGAGATAGAGCACAGGAAAGGGCTCTGGAAACGCCTGTAGGCTCTAACCCTGAGGCATGGGCCTGTGGCCAGGAGCTCTCCCATTGACCACCTCCGCTGCCTCTGCTCGCATCCCGCAGGCTCACCTGTTTCTCCGGCGTGGAAGAAGTAAGGCAGCTTAACGCCATCCTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAGTGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCAGGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCCTTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTAAGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCAGGTGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAACTTGCAGTGAGCTGAGATCACACCAATGCACTACAGCCTGGCCAAGAGCAAAAAATATATATATATATATATTTTGTAAAGACGGGGTCTCACCGATTTGCTCAGGCTGGTCTAGAACTCCTGGACTCAGGTGACCCTCCCACCTTGGCCCCCCAAGGTGCTGGGATTACAGGAGTGAGCCACTGCCCTGGACTAATCTAGATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCAGGCCACCAAGGCTGGCTAATTTTTGTGTTTTTAGTAGAGATGCGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTTCAGACCTCAGGTGATCCACCTGTCTCGCCCTCCCAAAGTGCTGAGGGCATGAGCCACTGCACCCGGCCTAGATTCTTTATGAGATTGCCGAGCTGTCACCTAAGAAATGTCCTGGTTGTGCTTCGATTTGGTGGGGAGGTGTGGGACAATGACAACACCTATGAATGTGTAGCTTCAAAAACTGGTGTGGCCAGGCATGATGGCTGGAGAGGGAGGGACAAATATCACTACCTTGAGGATTTGCAAAGGCCTGGCTCCATCCTGGACTCTGTTTCCAGACATTACCCCCCAGTCCCCACCCCGCGTGCTACAGGGGCTGGTGAGGGTTTTAAGACCCACACCTAGGTGAGCAGTGTGGGATAGAAAAAAGGGCACAGGCAGGGCCATGGGGAATGAGCCCATAACTGTGGTCCAAACTCCCTGAATGCCATCCTTATTCTGGAACTTTCCTTGTTAGCTTGTTAGAACTGGCTGTCTGCTCTCCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACATGGATGCAGCTCAGGGGCAGCTCTCTGTCCACTGCACACCTGCAAAGGGCCACAGGTCACCCAAGTCCCTGATGGGTCGGCTGGACCCAGTAACCATATGGCCTCTTGCTGATTAAGTCAGCAAGATCCTGGGTACTGCAGAACCCTACAGGGGCAAGGCAGGCAGCATGACAACAAAAGCCCCAAAACACAGGGTCTGGCGCAAGCCCACGACAGGCTCAAGGTCTTTGCCCTGCCACTGGCTCTCCTGCTCCAATCCTCGGCTCTGTGGGGATAAAGCCTTCCTGGCCTGCCCCACCCATGGCCTCTCCCCAGAGCCTAGGCAAACCTGGGGGCACTGATGCACTCAGCTCAGCCCTCACACCCTCCTGCCACTGGCCCTGGGAAGGGGCACCTGGCACCAGGGAGCCTCTGAGCAGAACGTGGGCCCATCCTGCAAGCTCCCTCCTAGGGGGACCGGCACAAAGCCAGAGCTTAGCTCCTCCAGGCCCCAGGCCCCATGGAAGGGAAGGGGACTCAGGAAGACTGGGCATGGGAGGAGGCTCCTGGGGAGTCAGTGCCCTCCAGAGCCCAGGCTCGTGGGTGAGCTGAGCAGAGGGAGCCGCTGCCGGATCCCTTCGGTGCCCGCCCCGTGCCTGACTCCGAGGGACCCCACTGGCTGCTGCCCTTGCAGCTGCGACCATGGACAGGTCCCAGCCTTAGACTGGCTGCTCTTTAAAGTGAGGGGAGGGGTCTTGTCTGGTAAAGTCAGAAGGACAATTAAGCTGCAAAGCTTTCTGTGCTTCCCTGGGAAAAAGAGTGGGTCTTTCACCCACGTGCCAGGCCACGCACATGGTACTACTGGAGGTCCCCACACGCAGACTTGAGCCAGTGCCACTCAGGGTGTCTCCGTGATCAAGGACTCACACACAACCACACACAGAACCCAGAGGCAAATTGAAACCAAAAACGGGCCAATTATCCAAACATTCAGGCAAAACCATTATGCTCATAAATGAGTCACCAGGCCAATGTGGGGTCACAGCCGAGAATTATCTGGGAAATTCACACATTCTTCATTTCAGTTTGGGGGTGAAGACCTGAACTAGAAGTGGCTTCAGGCAGCAATTCATTGTTGGGTCACCGCACTTACCTAGGACTGTGCTCTCACACAGGCACAGCACAGCTCCTTGGCACCAGTGCTGGGCCTCTCCCGGCCTCCCAGCCCCGCTTCTCACCCCTCCCCTCCCAGCCTAGTAGCTCTGCCTGCATCCCAGCCTCCCAACCCGAGCTTTTCAGCAATATTCTCTCTCACCTGTGATCCGAATAAATGATTTTGATTCCAATAAACTCAGGGTGAGTTTCCACAAACTTCTGAGCTACTTCCTGGTAAGTCTTCACTGACCACTCTTCGTCATGGTGCTCTCCACTGAGCTCATACACCTGGGAAGAAAGCACAACCAGGAGCCGTCAGGTGAGCAGTGAGAGACGCCACCCCCTTCCCAGCCACCCCTGCCCAGCCACCCCTGGCCAGCCACCCCTGCCCAACCACCCCCTTCCCAGCCACCCCTTCCCAGCCACCCTTGCCCAGCCACCCCTGCCCAGCCACCCTTGCCCAGCCACCTCCTTCCCAGTCAACTCCTTCCCAGCCATCAACGAGCTCTGGGAAAAGTAGATGGGGTCAGGGGACCCACAAAACAGTTTTATTTGTGTTTGGATTAGN
|
benign
| 321,742 |
Determine if the mutation at chromosome 22, position 17191821 in gene ADA2 (adenosine deaminase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
CGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACATGGATGCAGCTCAGGGGCAGCTCTCTGTCCACTGCACACCTGCAAAGGGCCACAGGTCACCCAAGTCCCTGATGGGTCGGCTGGACCCAGTAACCATATGGCCTCTTGCTGATTAAGTCAGCAAGATCCTGGGTACTGCAGAACCCTACAGGGGCAAGGCAGGCAGCATGACAACAAAAGCCCCAAAACACAGGGTCTGGCGCAAGCCCACGACAGGCTCAAGGTCTTTGCCCTGCCACTGGCTCTCCTGCTCCAATCCTCGGCTCTGTGGGGATAAAGCCTTCCTGGCCTGCCCCACCCATGGCCTCTCCCCAGAGCCTAGGCAAACCTGGGGGCACTGATGCACTCAGCTCAGCCCTCACACCCTCCTGCCACTGGCCCTGGGAAGGGGCACCTGGCACCAGGGAGCCTCTGAGCAGAACGTGGGCCCATCCTGCAAGCTCCCTCCTAGGGGGACCGGCACAAAGCCAGAGCTTAGCTCCTCCAGGCCCCAGGCCCCATGGAAGGGAAGGGGACTCAGGAAGACTGGGCATGGGAGGAGGCTCCTGGGGAGTCAGTGCCCTCCAGAGCCCAGGCTCGTGGGTGAGCTGAGCAGAGGGAGCCGCTGCCGGATCCCTTCGGTGCCCGCCCCGTGCCTGACTCCGAGGGACCCCACTGGCTGCTGCCCTTGCAGCTGCGACCATGGACAGGTCCCAGCCTTAGACTGGCTGCTCTTTAAAGTGAGGGGAGGGGTCTTGTCTGGTAAAGTCAGAAGGACAATTAAGCTGCAAAGCTTTCTGTGCTTCCCTGGGAAAAAGAGTGGGTCTTTCACCCACGTGCCAGGCCACGCACATGGTACTACTGGAGGTCCCCACACGCAGACTTGAGCCAGTGCCACTCAGGGTGTCTCCGTGATCAAGGACTCACACACAACCACACACAGAACCCAGAGGCAAATTGAAACCAAAAACGGGCCAATTATCCAAACATTCAGGCAAAACCATTATGCTCATAAATGAGTCACCAGGCCAATGTGGGGTCACAGCCGAGAATTATCTGGGAAATTCACACATTCTTCATTTCAGTTTGGGGGTGAAGACCTGAACTAGAAGTGGCTTCAGGCAGCAATTCATTGTTGGGTCACCGCACTTACCTAGGACTGTGCTCTCACACAGGCACAGCACAGCTCCTTGGCACCAGTGCTGGGCCTCTCCCGGCCTCCCAGCCCCGCTTCTCACCCCTCCCCTCCCAGCCTAGTAGCTCTGCCTGCATCCCAGCCTCCCAACCCGAGCTTTTCAGCAATATTCTCTCTCACCTGTGATCCGAATAAATGATTTTGATTCCAATAAACTCAGGGTGAGTTTCCACAAACTTCTGAGCTACTTCCTGGTAAGTCTTCACTGACCACTCTTCGTCATGGTGCTCTCCACTGAGCTCATACACCTGGGAAGAAAGCACAACCAGGAGCCGTCAGGTGAGCAGTGAGAGACGCCACCCCCTTCCCAGCCACCCCTGCCCAGCCACCCCTGGCCAGCCACCCCTGCCCAACCACCCCCTTCCCAGCCACCCCTTCCCAGCCACCCTTGCCCAGCCACCCCTGCCCAGCCACCCTTGCCCAGCCACCTCCTTCCCAGTCAACTCCTTCCCAGCCATCAACGAGCTCTGGGAAAAGTAGATGGGGTCAGGGGACCCACAAAACAGTTTTATTTGTGTTTGGATTAGGCCAAGTGGCCTTGTTCCCAAAAGTCCAGCCAGGCTGGACTTGTGCTTCCCTTGTTCAGGTCCTCTACGGCCTTGGGCATTGTCTCTGCTGCTGCATGGGGAATTCCTAGCTGGCTCTGGGATAACCCTGATGCTGATGCCCACCTGTCTCCTTCATTGCTGGGTCACTGCACTTAAAACAGCACATGGCACACGCGAGGGTAGGTGCCCATTAAGCATCTGCATAATGGTTGAAGAGCAGGTCACGGGGGGAGAGGATGAAAGCTAGAAAGAGTGATCTGAGAATGACGTCATTCCCCACTACCTGCTCACCTCCCCACTGCTTCCCTAACTCCAGGTGCAGCAGCTGCAAGGCGGCCACTGCCACCAGGGACAGCAAGGGGGACACAGTGAGAGCAGAGTGGGGAGAGTTGGGAGTGGGCAGGTGACAAGGAAGCTAAGGGAAGGGAGGTGTGTAATGGGGAAAGGTGGCTCACACCTGTAATCATAGCACTTTGGGAGGCCGAGGCAGGGGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACCAAAAATACAAGATTAGCTGGGCATGGTGGCACATGCCTGTTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATACCACTGCACTCCAGCCTGGGCGACAAAGCAAGACTCTGTCTCGAAAAAAAAAAAGGGGGGGCCCTCTCTCTTCCTCGGCGCTGCCTACAGAAGTGGCAGCCATCTCCTCTTTGGCATCATGGCCACCCTCAGACCCCTTGTGAAGCCTGATTGTCAAAAAGAGAACCAAAAAGTTCATCTGGCACCGGTCTGACCAATACGTCAAAATTAACCGTAACTGGCGGAAACCCAGAGGTATTCACAACGGGGTTCATAGAAGGTTCAAGGGCCAGATCTCGATGCCCAACAGTGGTTATGGGAGCAACAAAAAAAAACAAAGAACACGCTGCCCAGTGGCTTCCAGAAGTTCCTGGTCCACAACATCAAGGAGCTGGAAGTGCTGCTGATGTGCAACAATCTCCCTGTGCTGACATCGCTCACAACGTTTCCTCTAAGAACCACGAAGCCATCGTGGAAAGAGCTGCCCAGCTGGTCATCAGAGTCACCAACCCCAATGCCAGGCTGCGCAGCAAAGAAAATGAGTAGACAGCTCATGTCCCCTTTTTGTGTTTAAATAAAACCGTAAAAACTGCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGCGGTCGAGGTGGGTGGATCACGAGGTCATGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCGTGCCTGTAGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCACCTTAAAAAAAAACTAAAAAAAAAAAAAAAAGATGTGGGAATTTCTGCAGAGACTGTGGGGTGAAGGAGACAGGGAGCAATAATATGGAGATGTCGATTACTTCCATGGCATCAGTTAAGCCCTTATGATATAAAAGGAACAGGGCTGGGCATTGGAAGGGATGAAAAAATGCTAATAGACAAGATAGCTGCCCTCAGGAGTGAC
|
CGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGACAGAGAAGCCAGGAGACAGTGCCCAGCACCGACAGAGCACAAACCCCAGAGCACACCCTCCGTGCAGGGCTGGGCCAGCCCCAAGTGTGCAGGTCCCGTTTCCCAAACCTGAGGCACCCCTGCCCTCCTGACCCCACCCTGACCAGGCCATTGTGATCCCTGAGAGATATGTAGCCCAAATCCATTCTTATCAAAGACCCTTGCTGGCTCTGGGGGCACCTGTAGTCTCTGAAAAGTAGATGGGGTCAGAGGACCCACGGGAACAGTTTTATTTGTCTGCGTTTAGAGGAGGCCAGGTGGCCTTGTTCCCAGCTCTCCCTGCATCTCTGTCGGGGGTGTAGACATGGATGCAGCTCAGGGGCAGCTCTCTGTCCACTGCACACCTGCAAAGGGCCACAGGTCACCCAAGTCCCTGATGGGTCGGCTGGACCCAGTAACCATATGGCCTCTTGCTGATTAAGTCAGCAAGATCCTGGGTACTGCAGAACCCTACAGGGGCAAGGCAGGCAGCATGACAACAAAAGCCCCAAAACACAGGGTCTGGCGCAAGCCCACGACAGGCTCAAGGTCTTTGCCCTGCCACTGGCTCTCCTGCTCCAATCCTCGGCTCTGTGGGGATAAAGCCTTCCTGGCCTGCCCCACCCATGGCCTCTCCCCAGAGCCTAGGCAAACCTGGGGGCACTGATGCACTCAGCTCAGCCCTCACACCCTCCTGCCACTGGCCCTGGGAAGGGGCACCTGGCACCAGGGAGCCTCTGAGCAGAACGTGGGCCCATCCTGCAAGCTCCCTCCTAGGGGGACCGGCACAAAGCCAGAGCTTAGCTCCTCCAGGCCCCAGGCCCCATGGAAGGGAAGGGGACTCAGGAAGACTGGGCATGGGAGGAGGCTCCTGGGGAGTCAGTGCCCTCCAGAGCCCAGGCTCGTGGGTGAGCTGAGCAGAGGGAGCCGCTGCCGGATCCCTTCGGTGCCCGCCCCGTGCCTGACTCCGAGGGACCCCACTGGCTGCTGCCCTTGCAGCTGCGACCATGGACAGGTCCCAGCCTTAGACTGGCTGCTCTTTAAAGTGAGGGGAGGGGTCTTGTCTGGTAAAGTCAGAAGGACAATTAAGCTGCAAAGCTTTCTGTGCTTCCCTGGGAAAAAGAGTGGGTCTTTCACCCACGTGCCAGGCCACGCACATGGTACTACTGGAGGTCCCCACACGCAGACTTGAGCCAGTGCCACTCAGGGTGTCTCCGTGATCAAGGACTCACACACAACCACACACAGAACCCAGAGGCAAATTGAAACCAAAAACGGGCCAATTATCCAAACATTCAGGCAAAACCATTATGCTCATAAATGAGTCACCAGGCCAATGTGGGGTCACAGCCGAGAATTATCTGGGAAATTCACACATTCTTCATTTCAGTTTGGGGGTGAAGACCTGAACTAGAAGTGGCTTCAGGCAGCAATTCATTGTTGGGTCACCGCACTTACCTAGGACTGTGCTCTCACACAGGCACAGCACAGCTCCTTGGCACCAGTGCTGGGCCTCTCCCGGCCTCCCAGCCCCGCTTCTCACCCCTCCCCTCCCAGCCTAGTAGCTCTGCCTGCATCCCAGCCTCCCAACCCGAGCTTTTCAGCAATATTCTCTCTCACCTGTGATCCGAATAAATGATTTTGATTCCAATAAACTCAGGGTGAGTTTCCACAAACTTCTGAGCTACTTCCTGGTAAGTCTTCACTGACCACTCTTCGTCATGGTGCTCTCCACTGAGCTCATACACCTGGGAAGAAACACAACCAGGAGCCGTCAGGTGAGCAGTGAGAGACGCCACCCCCTTCCCAGCCACCCCTGCCCAGCCACCCCTGGCCAGCCACCCCTGCCCAACCACCCCCTTCCCAGCCACCCCTTCCCAGCCACCCTTGCCCAGCCACCCCTGCCCAGCCACCCTTGCCCAGCCACCTCCTTCCCAGTCAACTCCTTCCCAGCCATCAACGAGCTCTGGGAAAAGTAGATGGGGTCAGGGGACCCACAAAACAGTTTTATTTGTGTTTGGATTAGGCCAAGTGGCCTTGTTCCCAAAAGTCCAGCCAGGCTGGACTTGTGCTTCCCTTGTTCAGGTCCTCTACGGCCTTGGGCATTGTCTCTGCTGCTGCATGGGGAATTCCTAGCTGGCTCTGGGATAACCCTGATGCTGATGCCCACCTGTCTCCTTCATTGCTGGGTCACTGCACTTAAAACAGCACATGGCACACGCGAGGGTAGGTGCCCATTAAGCATCTGCATAATGGTTGAAGAGCAGGTCACGGGGGGAGAGGATGAAAGCTAGAAAGAGTGATCTGAGAATGACGTCATTCCCCACTACCTGCTCACCTCCCCACTGCTTCCCTAACTCCAGGTGCAGCAGCTGCAAGGCGGCCACTGCCACCAGGGACAGCAAGGGGGACACAGTGAGAGCAGAGTGGGGAGAGTTGGGAGTGGGCAGGTGACAAGGAAGCTAAGGGAAGGGAGGTGTGTAATGGGGAAAGGTGGCTCACACCTGTAATCATAGCACTTTGGGAGGCCGAGGCAGGGGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACCAAAAATACAAGATTAGCTGGGCATGGTGGCACATGCCTGTTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATACCACTGCACTCCAGCCTGGGCGACAAAGCAAGACTCTGTCTCGAAAAAAAAAAAGGGGGGGCCCTCTCTCTTCCTCGGCGCTGCCTACAGAAGTGGCAGCCATCTCCTCTTTGGCATCATGGCCACCCTCAGACCCCTTGTGAAGCCTGATTGTCAAAAAGAGAACCAAAAAGTTCATCTGGCACCGGTCTGACCAATACGTCAAAATTAACCGTAACTGGCGGAAACCCAGAGGTATTCACAACGGGGTTCATAGAAGGTTCAAGGGCCAGATCTCGATGCCCAACAGTGGTTATGGGAGCAACAAAAAAAAACAAAGAACACGCTGCCCAGTGGCTTCCAGAAGTTCCTGGTCCACAACATCAAGGAGCTGGAAGTGCTGCTGATGTGCAACAATCTCCCTGTGCTGACATCGCTCACAACGTTTCCTCTAAGAACCACGAAGCCATCGTGGAAAGAGCTGCCCAGCTGGTCATCAGAGTCACCAACCCCAATGCCAGGCTGCGCAGCAAAGAAAATGAGTAGACAGCTCATGTCCCCTTTTTGTGTTTAAATAAAACCGTAAAAACTGCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGACAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGCGGTCGAGGTGGGTGGATCACGAGGTCATGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCGTGCCTGTAGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCACCTTAAAAAAAAACTAAAAAAAAAAAAAAAAGATGTGGGAATTTCTGCAGAGACTGTGGGGTGAAGGAGACAGGGAGCAATAATATGGAGATGTCGATTACTTCCATGGCATCAGTTAAGCCCTTATGATATAAAAGGAACAGGGCTGGGCATTGGAAGGGATGAAAAAATGCTAATAGACAAGATAGCTGCCCTCAGGAGTGACN
|
benign
| 321,749 |
Variant on chromosome 22, at position 17199694, affecting ADA2 (adenosine deaminase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CAGGCATATGCAGGGGGCTTTATGCCATAATCTCATTTAACCCTCAAAACTACACTATGAGGTAGGTCTCATTTTACAGATAAGGATTTTGAGGCTTTAAAAGTTTGAGAAGGCTGAGCACGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCACGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGAAAATTAGCCGGGTGTGGTGGCACATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCAAGATTGCACCATTGCACTCCAGTCTGGGCAACAAGAACGAAACTCCGTCTCAAAAAAAAAAAAAACAAAAAAATTGAGAAACTCAGTACCCCTGCATAATTAGTGGGGCTGGAGGCCGACCACATTTCAGAATTTTGCTTGCCCTGAGTTGTCTCCTGTCATCAGGAGGCCCCTGCCCCCTCCTGTAGAAAGGTGACAGTCACTAGAGTGACATCTCAGCCCTGGCGGCACATTGGCATCACTCAAGGAGAGGAAAAATGCCTGTGTCCCACCCCAGAGCAACCAAATCAGAATCTGTGGGGTAGAAGCTTGGTGTTTGTAATCTCCCAGGTGGTGCTAGGGTGCGATATACAGCTGGGCTGAAGATCTGCCACTGTTCCAATCGACAGACAAGTAAATAGCACAATGACAGCATAGTCGGATGAGTCCTGTCAAAAAGGGAGCAGTTAAGAGGGTGCGTGTTCTCGTAAAGCGACACCAGCAACATGACACAGGGTTCGCTTCATTCAGCAAGGAGCCAAATGGAATTTTGAATGAAAGGTCTGCTAAGAATCCAGGCAAAAGCATGGGGGCTGGGGAGCGCGGGTACAGGGAGCACTAGAAATGCTTACTGTATGAACGACAACGTCTTAGAAAACGTCTGGGAACGACTGTCACAGGTTCTCTGCCACCGACGTGTCTCCCATAAGCTCTCCCCTCCATAAGTGCCAGCAGGGCCATCCCCTGTGGATAACCCTCCGGGGTCTTGGAAGAGCCCCATGCTAAAGACTCAGGGGACCCAGTCTGGGCCTCAGACTCTGCCGTGGGGGAAGGGGCCGGAGCCCAGGAGATAAGACCCGCCTAGCGACCGTTGCTACCGGCGAGCAGCCTTTGTTACTGAGCATTAGGAACACAATGGGAGGCTCAGCGGCCAGGATAGTCCGTCCACAGCAGCCCAGGCCGGAATTAGCCTGCGACCAGGCAGGGGGAGGCGAGGGGGCTCAGCAAAAGGATTCTAGTGAAGACTGTTTTTAGTTGTTAATGTGTTGGTGGCCCCCCAACTCTGGCTAATGGGGGGCATTAAGACCTAGACTCTCCGTGGCAAAAGCCTTTGTTCCAGGGTCAGACCCGAACAAATGGGCACATCCCCTCCCCCTCCCCCTCCACCAGAATCCCAAATCCTAGCAGCCCAGCACCTTCTCCAAAGGTTGGCTGGGGGACGGGCGGAGACGGGCAGAGTGAGGACAGAGGACTGGAGCTGGGCAGGCCCCCAAGTCTCTCCACCTCCGGCTCTGGAAGGAGAAAATGGCCACCTGCAGAACAAGGGGGAAGATGGAACAGGAAGCCAGTGCTCTGGCCCTTCTCTTCCTCCCTCCGATCCAACCGCTCAGCAACTTCTCCCACATGCCTCCCCACCAGGCTCAAGATGAAAGCCTCTGTCTCAGCGTCTCCTCCCTCCCCTCCTCTATCCTCTTCCCCTCCACCCACGAAGATCCCAGGGTTCTGCGAGGGTCGGAGTTCCCTATGCACTCCCACACCAAGACAGTTGTCAGGATTTGCCCAACAGGAAGTTCTCCCCTACCAGAGCCCAGTTCCATTCCAGGGAATCCATCTCCCCTCCGGAAAAAGGAAAATTGAAGCCAGATGCTCTCTGGGATCGCCATTTGAGGTGGGCGTGGCTATTAGGACGCTCAGAGAGCCCAGCGCGGTGAGGAAAGCGACGAACTTAGGAGCCCTGGTCTGGGTCCAGCCACCCCTTACTACCTATTTGACCTTCATCAAGCTCTTTGACCTTTCCAGGCTTTAGTTTCGACATCAATAAGATGAATTAATAGCTGGGCATGGCTCGCGTCTGTAATCCTAGTACTTTGGGAGGCCGACGTGGGTGTATTTGCCTGAGCTCAGGAGTTCCAGACCAGCCTGGGCAATATGGTAAAACCCCATCTCGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGTGGGTGGATCACTTGAGGTCGTGAGTTCGAAACCAGCCTGGCCAATATGGTGAAATCTCATCTCTTCTAAAAATACAAAAATTAGCTGAGTGCGGTGGTGTACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGAGGTTACAATGCGCCAAGATCACGCCACTTTACTCCAGCCTGGGCAACACAGAATGTCTCAAAAACAACAAACAAACAAACACAAGAATCACCTGCTCTGGGAAGTGCAGTTTCTTCCAGCCTACCTAGGCCAGGAGCAAAGTCAGCTCATCAATTTTTGCCAGCGCCTCCCTTTTCAGAAATTCTTTTCTCAATAAAAGATGAGACCCTCTCTTTTCTTTTAAAAGGATGATTTGTGTCCTGTGTCTTGTCTGTCTGCTCTGTCCACAAAACTGATGAAAGCTCCACTGCAAGGCAAAGTTAATGTTCCCCTCCCACTTCTCAAGAACTCAGAAATGGAAATATAACTCTGCACTCAGAGAGTTAAAATAGAAAACAAGCAACAGATCCAAGTGGAGACATGCAGATCACACAAGAGATCGGACTCTCCAGGATCCAGCCTTGCCGCTAAACTCACCAAGGGTATTAACATATCTAAGGAAAAGGCCGGGCATGGTGGCTCGTAATCTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTGCAAGACCAGCCTAGCCAACATGGTAAAACCCTGTCTCTACTAATAATACAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTATTCCAGAGGCTGAGGCAGGAGGTTCCCTTGAACCCAGGAGGCGGAGGTTGCAGTAAACCAAGATGGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGCCTCAAAAAAAAAAAAAACATATCTAAGGAAAAAGGTGGGTCAGTCCAGGATGCCAAGCAAAGGGAGAGTTGAGACCCACAAACTGGAATAACTTGAATAACGAGTGGATCAGCTGAGGTCAGGAGTTCAAGACTAACCTGGCCAACATGGTGAAACCCCATTTACTGAAAATACAAAAAATTAGCCAGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGGCAAGATCATACCACTACACTCCAGCCTGGGCGACAGAAATTCTGTCAAAAAAAAAAAAGAAGAAGAAGAAAGAAAAGAAAAGAGGAGAATTTCCTGATGAAGCATAAGTGTCTGGTCCGAATGATAACAGCATTCTGACTTTCTTGTTTACACATCTATCCCTTATGAATTTGTTCAGTGTGTATTGATCCTGCGGAGTCCTATCACTTCTGGGTCTACAAACAGTAAACTTCGGAGCGTATAAAAGCCTACAGAATATGCTAACAAAACTAAAATACTGCCACCATGTGGGCCTTTCCACAAGCTTAACTGTCAGTCCCCAAGGCATTTGTGTATCCGATCAATATGTAAATGAACGAGCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCA
|
CAGGCATATGCAGGGGGCTTTATGCCATAATCTCATTTAACCCTCAAAACTACACTATGAGGTAGGTCTCATTTTACAGATAAGGATTTTGAGGCTTTAAAAGTTTGAGAAGGCTGAGCACGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCACGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATAGAAAATTAGCCGGGTGTGGTGGCACATGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCAAGATTGCACCATTGCACTCCAGTCTGGGCAACAAGAACGAAACTCCGTCTCAAAAAAAAAAAAAACAAAAAAATTGAGAAACTCAGTACCCCTGCATAATTAGTGGGGCTGGAGGCCGACCACATTTCAGAATTTTGCTTGCCCTGAGTTGTCTCCTGTCATCAGGAGGCCCCTGCCCCCTCCTGTAGAAAGGTGACAGTCACTAGAGTGACATCTCAGCCCTGGCGGCACATTGGCATCACTCAAGGAGAGGAAAAATGCCTGTGTCCCACCCCAGAGCAACCAAATCAGAATCTGTGGGGTAGAAGCTTGGTGTTTGTAATCTCCCAGGTGGTGCTAGGGTGCGATATACAGCTGGGCTGAAGATCTGCCACTGTTCCAATCGACAGACAAGTAAATAGCACAATGACAGCATAGTCGGATGAGTCCTGTCAAAAAGGGAGCAGTTAAGAGGGTGCGTGTTCTCGTAAAGCGACACCAGCAACATGACACAGGGTTCGCTTCATTCAGCAAGGAGCCAAATGGAATTTTGAATGAAAGGTCTGCTAAGAATCCAGGCAAAAGCATGGGGGCTGGGGAGCGCGGGTACAGGGAGCACTAGAAATGCTTACTGTATGAACGACAACGTCTTAGAAAACGTCTGGGAACGACTGTCACAGGTTCTCTGCCACCGACGTGTCTCCCATAAGCTCTCCCCTCCATAAGTGCCAGCAGGGCCATCCCCTGTGGATAACCCTCCGGGGTCTTGGAAGAGCCCCATGCTAAAGACTCAGGGGACCCAGTCTGGGCCTCAGACTCTGCCGTGGGGGAAGGGGCCGGAGCCCAGGAGATAAGACCCGCCTAGCGACCGTTGCTACCGGCGAGCAGCCTTTGTTACTGAGCATTAGGAACACAATGGGAGGCTCAGCGGCCAGGATAGTCCGTCCACAGCAGCCCAGGCCGGAATTAGCCTGCGACCAGGCAGGGGGAGGCGAGGGGGCTCAGCAAAAGGATTCTAGTGAAGACTGTTTTTAGTTGTTAATGTGTTGGTGGCCCCCCAACTCTGGCTAATGGGGGGCATTAAGACCTAGACTCTCCGTGGCAAAAGCCTTTGTTCCAGGGTCAGACCCGAACAAATGGGCACATCCCCTCCCCCTCCCCCTCCACCAGAATCCCAAATCCTAGCAGCCCAGCACCTTCTCCAAAGGTTGGCTGGGGGACGGGCGGAGACGGGCAGAGTGAGGACAGAGGACTGGAGCTGGGCAGGCCCCCAAGTCTCTCCACCTCCGGCTCTGGAAGGAGAAAATGGCCACCTGCAGAACAAGGGGGAAGATGGAACAGGAAGCCAGTGCTCTGGCCCTTCTCTTCCTCCCTCCGATCCAACCGCTCAGCAACTTCTCCCACATGCCTCCCCACCAGGCTCAAGATGAAAGCCTCTGTCTCAGCGTCTCCTCCCTCCCCTCCTCTATCCTCTTCCCCTCCACCCACGAAGATCCCAGGGTTCTGCGAGGGTCGGAGTTCCCTATGCACTCCCACACCAAGACAGTTGTCAGGATTTGCCCAACAGGAAGTTCTCCCCTACCAGAGCCCAGTTCCATTCCAGGGAATCCATCTCCCCTCCGGAAAAAGGAAAATTGAAGCCAGATGCTCTCTGGGATCGCCATTTGAGGTGGGCGTGGCTATTAGGACGCTCAGAGAGCCCAGCGCGGTGAGGAAAGCGACGAACTTAGCCCTGGTCTGGGTCCAGCCACCCCTTACTACCTATTTGACCTTCATCAAGCTCTTTGACCTTTCCAGGCTTTAGTTTCGACATCAATAAGATGAATTAATAGCTGGGCATGGCTCGCGTCTGTAATCCTAGTACTTTGGGAGGCCGACGTGGGTGTATTTGCCTGAGCTCAGGAGTTCCAGACCAGCCTGGGCAATATGGTAAAACCCCATCTCGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCCAAGGTGGGTGGATCACTTGAGGTCGTGAGTTCGAAACCAGCCTGGCCAATATGGTGAAATCTCATCTCTTCTAAAAATACAAAAATTAGCTGAGTGCGGTGGTGTACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCGGGAGGCGGAGGTTACAATGCGCCAAGATCACGCCACTTTACTCCAGCCTGGGCAACACAGAATGTCTCAAAAACAACAAACAAACAAACACAAGAATCACCTGCTCTGGGAAGTGCAGTTTCTTCCAGCCTACCTAGGCCAGGAGCAAAGTCAGCTCATCAATTTTTGCCAGCGCCTCCCTTTTCAGAAATTCTTTTCTCAATAAAAGATGAGACCCTCTCTTTTCTTTTAAAAGGATGATTTGTGTCCTGTGTCTTGTCTGTCTGCTCTGTCCACAAAACTGATGAAAGCTCCACTGCAAGGCAAAGTTAATGTTCCCCTCCCACTTCTCAAGAACTCAGAAATGGAAATATAACTCTGCACTCAGAGAGTTAAAATAGAAAACAAGCAACAGATCCAAGTGGAGACATGCAGATCACACAAGAGATCGGACTCTCCAGGATCCAGCCTTGCCGCTAAACTCACCAAGGGTATTAACATATCTAAGGAAAAGGCCGGGCATGGTGGCTCGTAATCTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTGCAAGACCAGCCTAGCCAACATGGTAAAACCCTGTCTCTACTAATAATACAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTATTCCAGAGGCTGAGGCAGGAGGTTCCCTTGAACCCAGGAGGCGGAGGTTGCAGTAAACCAAGATGGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGCCTCAAAAAAAAAAAAAACATATCTAAGGAAAAAGGTGGGTCAGTCCAGGATGCCAAGCAAAGGGAGAGTTGAGACCCACAAACTGGAATAACTTGAATAACGAGTGGATCAGCTGAGGTCAGGAGTTCAAGACTAACCTGGCCAACATGGTGAAACCCCATTTACTGAAAATACAAAAAATTAGCCAGGCATGGTGGTGTGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGGCAAGATCATACCACTACACTCCAGCCTGGGCGACAGAAATTCTGTCAAAAAAAAAAAAGAAGAAGAAGAAAGAAAAGAAAAGAGGAGAATTTCCTGATGAAGCATAAGTGTCTGGTCCGAATGATAACAGCATTCTGACTTTCTTGTTTACACATCTATCCCTTATGAATTTGTTCAGTGTGTATTGATCCTGCGGAGTCCTATCACTTCTGGGTCTACAAACAGTAAACTTCGGAGCGTATAAAAGCCTACAGAATATGCTAACAAAACTAAAATACTGCCACCATGTGGGCCTTTCCACAAGCTTAACTGTCAGTCCCCAAGGCATTTGTGTATCCGATCAATATGTAAATGAACGAGCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCANNN
|
benign
| 321,752 |
Determine whether the variant at chromosome 22, position 17203651, in gene ADA2 (adenosine deaminase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Sneddon_syndrome', 'Vasculitis_due_to_ADA2_deficiency']
|
GTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTCTCTCCAAACTTCCTTCCTTAAAATCAAATTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCATCCAGGCTGAAGAGCAATGGCGGTATCTCTGCTCACTGCAAGCTCCTCCCCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGATTACAGGTGCGCACCACCATGCCAGCTAATTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACTCAGGCTAGAGTGCAATGACACAATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGAAGTACAGGCATGCGCCATCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCGAGTGCTGAGATTACAGGCATGAGCCACCTCGCCCGGCCAACAGCTAATTTTTGTATTTTTAGTAGAGATGGAATTTCGCCATGTTGACCAGGCTGGTTTCAAACTCCTGGCCTCAAGTGATCCACCAGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAATGCACCTGGCCTCCCCTCTCTTTTTAACCTCTCCACACTTCTTCCTTCTGTGTGCAAAACAAGTCTCTCCATCCTAAAAAGAAACCTGTGGCCCCTGTGGTTCCCTCCAGCTATCTCGATGTTCTTTTTCTCAAATCACACTCAGAGCCTTTAATCAGCCAAACCTGGCTCCAATTCATCACCTGTATTTCATTTTTCTTTCTCTTTTCCTTTCTTTCTTTTTTTTTTTGTGTGTGTGTGTTTTTTGAGACAACATCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCAGTGCAATCTCTGCTTCCCAGGTTCAAGTGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCGTCTATTTCATTTTTCTACTCCCAGAAATGGGGTTTCTCTTCTCAGCATGTTACTGAAACTGCTCAAAGGTGACCTTGTAATTTCCAAATCCCATGGACGATTATGCATCTGCATGTCTCTTGCCCTCACCCTGCCATGTGGCTCCTTTTATTTTTCAAACCCCTTGTTTTGGCCCCTAAGATGGCTCTATCCCAATTCTCCTTCTCAGCTTATGTCACGAGGCCCTGAGTATCATGGCAGAGGGGAGAACGGGGAACCATGAGAAACAGGGGGGCAAAGGGCAGCACGGAATGTGTTCCCAGTTTTGCTGGAGGCTGCCCAGTCCATTTCAGGTTTCCTTGCTCATGTTGGCCCCTGGAAAGGCACATGATCCCTTGCACCAGAGACCTGAGTGGTCAATTCATGAGCATTCAGTCTTCTACCAGCTAAGATCTGAGTCAGGCCAGAGCAAAGGAGGTGGGAGGAACAGAGAGGAGAGCTGGGCTCACCGGCAGCAGCCTGGCTCTGATCTCCATGTAGAGCACGTTGTCCTCGTAGAACTCCTGCATGCTCCGGAAGACATAGTCTCTGAACACTGGTGCGTAATGGATGAGACCAGAGATGGTGAAGAAGATGGTTTCAAATTTCGACCAGACAACATTTTGGTTTGTGTAAATCACCTCCGGGTGCTGGGTCACCAGAGTGAAATTCCTCAGCAAGCTGTCCAAGACACGAAGTGGGGAGTGGCAGAGGCATGATCCAGGACACTGCCCCCGGGCGCCCATAGGACTGCTACCCACCTTGCATATCCCAGCTAGCAGCTCACAGGATTCACCCTAGAGTGGAGATAAGGAAGGGGCAAAGGGGAGCATTCCCACGCTCACGATATAAGCATGGGTCCTGTGGCCAGGCAGCCCACTGCCTGCTTAAACCCAAACCCCAAACGCAGGAGACTGCTTAAGATGAGAGCTCACCAGTCAGTCTCTCCTGGCTCCTGTCCTCCCTCTGTATGCTTGGCCAGTCTGACCCCACTGTACTTTCTAGACCAAAAAGCTCTCTCTCTCTCTCTTTTTTTCTTCCTATACCCACTGACAGGAAACTAGACCAAGCTCTTTTTGGGGAATGTTATGGACTAACTTGTGTCCCCAAACCCCCAAATTCAAATATTGAAGCCCTAGCCCTCATTTGGAGAAGGGAATTTTAAAGAGATGATTAAGACTAAATGAGGTTGTAAGGATGGGGCTCTACCCTAATAAGATGGGTGTCCTTGTAAGAAGAGGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGATGGGTGGATCATTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAATACAAAAATCAGCCAGGCGTGGTGGTTTGTCCCTGTAATCCCAGTTACTAGGGAGGCAAGAGAATTGTTTGAACCCTGGAAGTGGAGGTTGTAGTGAGCTGAGATCGCACCACTGTACTCCAGCCTGGGCGACACAGCAAGACTCATCTCAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCGCAGGAGTGCACATACAGAGGAAAGGCCATGTGAGTACACAGCCAGAGGCGCCTTCTGCACGCCAAGGACAGAGGTCTCAGGAGGAACCACCCCTGCCCTGGCACCTTGATCTTAGACTTCCAGCCTCCAGAACCATGAGAAAATCAATTCCTTCTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTCACAATCACAGCTCGCTGCAGCCTCAATCTCCCAGGCTCAAGCAATCCTCTTATGTCAGCCCCCTGGGGTAGCTGAGACTATAGGTGTACACCACCACATCTGGTTAATTTTTTATTTTTTGTTGAGATGGGGATCTCACTATGTTGCCCAGACTGGTCTTTCTTTCTTTCTTTTTTTTTTTAAACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGG
|
GTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCTTCTGGCCAAAATGCAAGACCCAAAAATCAGATTTTTTTGATGATGCTCCCTTCTTTTGGACTCTTTCTACTCCTTTCCATTTCACTCTCTCCAAACTTCCTTCCTTAAAATCAAATTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCATCCAGGCTGAAGAGCAATGGCGGTATCTCTGCTCACTGCAAGCTCCTCCCCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGATTACAGGTGCGCACCACCATGCCAGCTAATTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACTCAGGCTAGAGTGCAATGACACAATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGAAGTACAGGCATGCGCCATCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCGACCTCGTGATCCGCCTGCCTCAGCCTCCCGAGTGCTGAGATTACAGGCATGAGCCACCTCGCCCGGCCAACAGCTAATTTTTGTATTTTTAGTAGAGATGGAATTTCGCCATGTTGACCAGGCTGGTTTCAAACTCCTGGCCTCAAGTGATCCACCAGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAATGCACCTGGCCTCCCCTCTCTTTTTAACCTCTCCACACTTCTTCCTTCTGTGTGCAAAACAAGTCTCTCCATCCTAAAAAGAAACCTGTGGCCCCTGTGGTTCCCTCCAGCTATCTCGATGTTCTTTTTCTCAAATCACACTCAGAGCCTTTAATCAGCCAAACCTGGCTCCAATTCATCACCTGTATTTCATTTTTCTTTCTCTTTTCCTTTCTTTCTTTTTTTTTTTGTGTGTGTGTGTTTTTTGAGACAACATCTAACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCAGTGCAATCTCTGCTTCCCAGGTTCAAGTGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCTCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCGTCTATTTCATTTTTCTACTCCCAGAAATGGGGTTTCTCTTCTCAGCATGTTACTGAAACTGCTCAAAGGTGACCTTGTAATTTCCAAATCCCATGGACGATTATGCATCTGCATGTCTCTTGCCCTCACCCTGCCATGTGGCTCCTTTTATTTTTCAAACCCCTTGTTTTGGCCCCTAAGATGGCTCTATCCCAATTCTCCTTCTCAGCTTATGTCACGAGGCCCTGAGTATCATGGCAGAGGGGAGAACGGGGAACCATGAGAAACAGGGGGGCAAAGGGCAGCACGGAATGTGTTCCCAGTTTTGCTGGAGGCTGCCCAGTCCATTTCAGGTTTCCTTGCTCATGTTGGCCCCTGGAAAGGCACATGATCCCTTGCACCAGAGACCTGAGTGGTCAATTCATGAGCATTCAGTCTTCTACCAGCTAAGATCTGAGTCAGGCCAGAGCAAAGGAGGTGGGAGGAACAGAGAGGAGAGCTGGGCTCACCGGCAGCAGCCTGGCTCTGATCTCCATGTAGAGCACGTTGTCCTCGTAGAACTCCTGCATGCTCCGGAAGACATAGTCTCTGAACACTGGTAATGGATGAGACCAGAGATGGTGAAGAAGATGGTTTCAAATTTCGACCAGACAACATTTTGGTTTGTGTAAATCACCTCCGGGTGCTGGGTCACCAGAGTGAAATTCCTCAGCAAGCTGTCCAAGACACGAAGTGGGGAGTGGCAGAGGCATGATCCAGGACACTGCCCCCGGGCGCCCATAGGACTGCTACCCACCTTGCATATCCCAGCTAGCAGCTCACAGGATTCACCCTAGAGTGGAGATAAGGAAGGGGCAAAGGGGAGCATTCCCACGCTCACGATATAAGCATGGGTCCTGTGGCCAGGCAGCCCACTGCCTGCTTAAACCCAAACCCCAAACGCAGGAGACTGCTTAAGATGAGAGCTCACCAGTCAGTCTCTCCTGGCTCCTGTCCTCCCTCTGTATGCTTGGCCAGTCTGACCCCACTGTACTTTCTAGACCAAAAAGCTCTCTCTCTCTCTCTTTTTTTCTTCCTATACCCACTGACAGGAAACTAGACCAAGCTCTTTTTGGGGAATGTTATGGACTAACTTGTGTCCCCAAACCCCCAAATTCAAATATTGAAGCCCTAGCCCTCATTTGGAGAAGGGAATTTTAAAGAGATGATTAAGACTAAATGAGGTTGTAAGGATGGGGCTCTACCCTAATAAGATGGGTGTCCTTGTAAGAAGAGGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGATGGGTGGATCATTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAATACAAAAATCAGCCAGGCGTGGTGGTTTGTCCCTGTAATCCCAGTTACTAGGGAGGCAAGAGAATTGTTTGAACCCTGGAAGTGGAGGTTGTAGTGAGCTGAGATCGCACCACTGTACTCCAGCCTGGGCGACACAGCAAGACTCATCTCAAAAAAAAAAAAAGAAGAAGAAGAAGAGACCGCAGGAGTGCACATACAGAGGAAAGGCCATGTGAGTACACAGCCAGAGGCGCCTTCTGCACGCCAAGGACAGAGGTCTCAGGAGGAACCACCCCTGCCCTGGCACCTTGATCTTAGACTTCCAGCCTCCAGAACCATGAGAAAATCAATTCCTTCTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGTCACAATCACAGCTCGCTGCAGCCTCAATCTCCCAGGCTCAAGCAATCCTCTTATGTCAGCCCCCTGGGGTAGCTGAGACTATAGGTGTACACCACCACATCTGGTTAATTTTTTATTTTTTGTTGAGATGGGGATCTCACTATGTTGCCCAGACTGGTCTTTCTTTCTTTCTTTTTTTTTTTAAACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGTGTGTCCTTGCATAAGCTAATTAACCTTGCTCAGCTTCACGTTTCTCATTTCATAAAGGGAAGTAACCTCAGGGGGGCACTCTGTAGACATTTCTGTGACCAAATTAATTGTCACTTATAATATTACTATACAATGCCAGGNNNN
|
pathogenic
| 321,759 |
A genetic alteration at chromosome 22, position 17209533, in gene ADA2 (adenosine deaminase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Sneddon_syndrome', 'Splenomegaly', 'Vasculitis_due_to_ADA2_deficiency']
|
TGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGC
|
TGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAG
|
pathogenic
| 321,771 |
Does the genetic variant at chromosome 22, position 17209533, impacting gene ADA2 (adenosine deaminase 2), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Sneddon_syndrome', 'Vasculitis_due_to_ADA2_deficiency']
|
TGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGC
|
TGGGGACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACACCAGCTGTGCCCCTTGCTCCCCTAGGCACAGTGCATGCTGTCCCTCTGCGCTTCTTGTGCCCATCCAGCCCCTGGCCCTGACACGAGCCCCCAGACACCCTCTTATGCCTCCCAGCAACTGGGGATGCTACTTTACTGACCTCACGATTATTATTATTTTTTAAATCTCTATTTATAACATTAAAAGAAAAAAAAACAGCTGGGCACAGTGGCTCACTCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGAAGGATGTTGCAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAAAACAGGTGTTAAGTCTTTGTAAACTGCAAGCTGCTATTATTTTTACATTTTAAATTAACATTTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGTGTGGATTGCCTGAGCTCAGGTGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTATCCAGGTGTGGTGGTTCATGCATGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCAGTGCACTTCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATTTTTTTTAATAAAAAAAAAAATTAACATTTTTTGGGGAACAGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGTGCCATCATAGCTCCCTGCAAACTCCACCTCCTGGGCTCAAGCGATACTCTCCACTCAGCCTCCAGAGTAGCTCGGATTACAGGTGCACCACCACCCCTGGCTATTTATATGTGCGGGATGCTAATTATTTCATGTTTCATGGAGGTGTGTTTATACTACTCCAGGATGCTATATCACATTGTATCCTATGTGGTAGCTTAGCCCCTGGGAAAACTAAAAAGGGAATAGCAAAGTCTCAGGGCTGGATGCTTTTCCAATCCTGACTGTCTGCGAGTCCCCCAGGAAGCAGGGGTTTTGGTTTTCAACACCCTTTTCCTAGTCTACCCATAAGGACAGAGGAGCAGAACAGCTGAGTGAGGCTTTCTCTGCTCCATCTAGAATAGCAACAGCCACAAGCACAGTAATAGCCCCAAGATGAGTCCCTCTACCTTCCCAGCACCCCAAGCCACCCCTTTCCAAACCTTACCTTTTGGCATCATCCTTAGAATATTAAACACTTGACTTCTCTCAATGAGATGCTTGGCCTGGAAAAAGTGCATGCTGGGTGGGAATATCAGGGTCCTCATGGCCTCCTTCATCTCAGCGATTTTGAGCGTCATGAGCCTCTCATTGGCCAGCTCCTCCTTGGTGTTCAGCACCAGCCGCCCCCCAGCCGCATCATCTTTTCTTTCAACAACAGATGCGCCCGTGTTTCATCTATGGATAGAGCTGAGCCGAAGAAAGACATTGCCACAGCCAACAGCAAGAAGCACAGGGCTGGCCGCTCAGATGGGCCATCCACCAACATCGGGATGCCTGGACTAGGAAAGGGCTCAGATGGAGACTCCACGGGACTGCAAAGGAGAGTGGGGGAGTGAAAACCTACAGATTTAAGGGTGGAACTCTGATCTTCCTTTTCTCGCCCTGCTCTCAGATTACCAGAAGGCAAGATATTGAAGGATTCTTCTTCCAGACCCCAGAGAAAAGACCTACAGGTACAGACAGGTAGGGGTTTCCCAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGCTGCCCAGGCTGGAGCACGGTGGTGCAATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGACAGGATGGTCACGATCTCCTGACCTCGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCACCTGGCATTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGTAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGCTTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCATGCATCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCAGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGGCAGGTTTTCCCAAATTAAAGGTCACCATGAGGTCAAACAAGCCCTGGCTCATGCATAAAGACACTGCAATCTGATTTTTAGTGGTTCACTTTTATTTTATTTTATTTATTTTAATTTTTGTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGACTGCAGTGACGTGATCTTGGCCCTCTACAACCTCCGCCTCCAGGGTTTAAGCGATTCTCGTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGCACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAATAGAGACCATATTGGCCAGGCTGGTCTTGAACTCCTAGCCTCAAGTGATCCACTCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCAACATGTCCAGCCAGTGTTTTACTTTTAAATATAACCAGCATGCCTGTGGTCCCAGCTATTCAGGAGGCTGAAGCGGGAGCATCACTTGAGCCCAGTACTTTGAGGCTGCAATGAGCTTTGACCTCACCACTGCACTCCAGCCTTGGCAACAGATCAAGACCTTGTCTCTAAAAAAAATATTTTTTTATTAAAAAATAAAAATACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTCAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAAACCCGTCCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACGCATGCCTGTAGTCCCAGCTGTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTAGAATAAGCTGAGTTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAATCTCAAAATAAATAAATAAAATTAAAATAAGACCAGGTGCTGGCACAGCAGGTGGATTGCTCAAGCCCAGGAATTCAAGACCATTCTCAGCAACATGTTGAAACTCCATCTCTACAAAAGATACAAAAATTAGCTGGGCGTGGTTGTGCACACCTATAGTCCCAGCTACTGGGGAGGCTGAGGTGGGAAGTTCACCTGAGCCTGGGAAATCGAGGATGCAATGAGCN
|
pathogenic
| 321,772 |
Is chromosome 22, position 17594620, gene ATP6V1E1 (ATPase H+ transporting V1 subunit E1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
GGCAGTGAAGAGGAAGCTACAGAGACATTCGTGTTTCTTCAAATATCAGAAGCTTCCACATCACAGCAGGAGAGCTGACGACGAGCTCCACCTCCTGAAGGCTTAGTCCAAAAACTTCCTGTTGGCATTTGCACCAAACAAGGCTCCCCGGACTTCTGGCATCATCTGTGGAGAGAAAGTGTAATAAATACGCAATGTCAGCTGAAGAAGTTGTAGAGCGCTGCACATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCCGCTCATTGCAAGCTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGATGGGACTACAGGTGCTTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCAAGCCTGGCCAGAGTGCTGCACATCTTAACCACAGGTGGAAAGCCATGAACCTCTATGTGGCTGGGAAGGACTCACAAAGCCACGCACATCAAAGCCACCCTCTCCTTCCCTGAAGCAAGTAACACATTCCTTGGTGAGAAACTTAACTCATCCCAAATCTGGGGTTCAGACTGCTTACAAAAGGGACACATTAAAAAAAAACAAAACAAAAAAAAACCTAAAGTCACTACTATCTCAGACTTAACTCATCATAATCATCTCACCACAATATGCTGGGTCACCTACACTCTTTCTTCAACAAACATTTACTGAGTGCCTACTATGGCCACAGCAGCTGCAAAGAACACTTCCAATGCCAGCTTAGGCTGGAAGCACTTGCTACAGCCACTGATGAATCCTTAGGAGAACTTAACCCTGGACTTCCAAGGCTCGGCTGTCCAACAGGGCAGTCCTAGCTACAGATGGTTATTGTGTGCTGAGAAACTGAATTTTTCGGTTTAATTAAATATCCGTAAGTGAGTAGTGGCTATGATACTGGATGGGACAGTGGCTACTAGGAAACAATGTTCTGAGGTTTAAGTTACCAGAATATGAAAAAATCAAGGTGAAAGTGCTTTAGTTATAAGACAAGTATCTGCATAAACAGTAAACTGCATATCTAGGTCAGGGAATAACTAGGTTGGCAGCCACAGCAATAGACTCCCACTAGAAGTCTAGAAGATGCCCAGCATTTTAGAACAAATGGAATTTTCCTGGCTTGTTTCCTAGAGTTCCTGTGTACAAATCTGGAAACATCTGAAAAGCCAGCAGCTTTATGATAATTCCTTTAAATAAGTATTTGTGTCTGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAATTTGATAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCCAAGACTGCACTCCAGCCTGCGCAAAAAAGAGTGAAACTCCATCTCAAAAAAGCAAAACAAAACAAAAAAACACAAGTATTTGCTTTAGTTCCCATCACTCCTGTTAGAGAAAGAACTTGTCAGCACCTTACATGTAGTAAAATGTACATATTCGAATCCTAGGTCAACAAAACACTTGTTCTGACCCCAAATTCACCCTCATGTAAATGTTACCACCTCAGCAAATGCTACTACATGCCCAATTCTCATTCTTTTTGAGAAAATGTCCAAAACTGGAAAGACAGCAACAAATCCCAAATACCAGTGAATGGACACGTGTTCTCTGTCCCACTTCAAAGTAACAGCAGACCAACTACCAAGAAGTACCCCCACACTCACCTGCTGGGCTATGAGATCCAGCCGGCTTTCCAGGGTGTTGGAAACCTTTATTTTACGATCTCCATTATAGATCTCAACTCCACCAGCTCTGCAAAAAAAAAAGCACAGGAAATAATCATTTTCAAAGACTTGAGAAAGATACATGGTACCCTTTACTCCCGCAGAGGAATGCCCTTGTCTTGGTGTGTAGACTGCGCAACCTAAGCAACAGGCTTGAAAGGAACTGAAAAAGCTTCTGAAGATGTAACGCACAGTTGGTTTCAGGAAACCCCAGTCCCCGCCTAGATGTCCATTATATGAAACAGCGTAGTATTTGCATACAACCATCACACATCCTCCCCTATATTGCAAATCATGTCTACAGCACTTAAAATAGCTAATACGATGTAAATGGTTGTTATACCGTAGTGTTTAGGGAGTGAAAAGAAAAAGTTGGTTGAATTCACAGGTGTGGACCCCAAAGATACAGAGAACTGACTGTATTCATCTCAATAACTGTCATTTACCAAGTGACACTATGTGTCAATTTGTTTTGTTTTTTTTGAGACTCGCTCTGTTGCCCAGGCAGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAATTCTCCTGCGTCAGCCTCCCCAGTAGCTGGGATTACAGGCACCTGCCATCACGCCTGGCTAATTTTTGTATTGTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCTGCCTCCACAAGTGTTGGGATTACAGGAGTGAGTCACCGCGCCCAGCCTGTGTCAATTTGATTTTATGTTACAAAACCTGTTTTAATTATCACAGCCAGCCCTCCCCAACAAAATGAAAAAGAGAGGATTTCATCTCAGTTTGCAAATCACTCAATCCTCATCTGAATGTTTTCTTAAGCCCAATCCTGCTCATTACTGATGAGGCCCTATCACGACTGCATGTGTGTCTGATAAAAGATGCCACTGCTGGCCGGGCGTGGTAGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGCTCCCAAACTCAAGTTTGAGGCCAGCCTGGCCAACATGGCGAAAGCCTGTCTCCACTAAAAATACAAAAATTAGCTGGGCATGGTGGGGCGTGCCTGTAGTCCCAGCTACTTGAGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGCAAGCCGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAAAGAGACCCTTACTCAAAATACAACAACAACAACAAAAAAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCTCTTTGAGAGGCCGAGGTGGGCAGATCACGACATCAGGAGATTGAGACAATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCGAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTAATCGGGAGGCTAAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGGGTGAGAGTGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAGATAAAAAATGCTATGAGGTTAGTGCTAATACGTCAATTTACAGATAAGGGAATCAGGGCTCACTACTATGGTTTGAGTCTGTTCCCTCAGAAACTAATGGTGAAATTTGATTCTCAATGTGGCAGTGTTGGGAGGTGGAGCATAGTAGGAGGTGTTCAGGGCTCAAGGGCAGATCCCGAGGCAATGAACTGTGGCGAGGGCCTGGATTCTAGCTCCGGCAGGACTCGACTGTGAGCAGAGGGTGGGCTGGTATGATAGGGAGTCTGGTTCCCTAGGCTCTCTGGCCTCCTCTCTCGCCATGTGGTCTCTATGCACACACCCACTCCCCTTCCACCTTCTGCCATGAGTGGAAGCAGCCTGAGGCCCTCACCAGATGCAGCTGTCCAATCTTGAACTTTCCAGCCATGAGAATCATGAACCAAATAAACCTCTTTTCTCCATGAATTACCCAGCCTCGGGTATTCTGTTATAGCAACACTAAATGGACGACACCACTCAATGAAACTGAATAA
|
GGCAGTGAAGAGGAAGCTACAGAGACATTCGTGTTTCTTCAAATATCAGAAGCTTCCACATCACAGCAGGAGAGCTGACGACGAGCTCCACCTCCTGAAGGCTTAGTCCAAAAACTTCCTGTTGGCATTTGCACCAAACAAGGCTCCCCGGACTTCTGGCATCATCTGTGGAGAGAAAGTGTAATAAATACGCAATGTCAGCTGAAGAAGTTGTAGAGCGCTGCACATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCCGCTCATTGCAAGCTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGATGGGACTACAGGTGCTTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCAAGCCTGGCCAGAGTGCTGCACATCTTAACCACAGGTGGAAAGCCATGAACCTCTATGTGGCTGGGAAGGACTCACAAAGCCACGCACATCAAAGCCACCCTCTCCTTCCCTGAAGCAAGTAACACATTCCTTGGTGAGAAACTTAACTCATCCCAAATCTGGGGTTCAGACTGCTTACAAAAGGGACACATTAAAAAAAAACAAAACAAAAAAAAACCTAAAGTCACTACTATCTCAGACTTAACTCATCATAATCATCTCACCACAATATGCTGGGTCACCTACACTCTTTCTTCAACAAACATTTACTGAGTGCCTACTATGGCCACAGCAGCTGCAAAGAACACTTCCAATGCCAGCTTAGGCTGGAAGCACTTGCTACAGCCACTGATGAATCCTTAGGAGAACTTAACCCTGGACTTCCAAGGCTCGGCTGTCCAACAGGGCAGTCCTAGCTACAGATGGTTATTGTGTGCTGAGAAACTGAATTTTTCGGTTTAATTAAATATCCGTAAGTGAGTAGTGGCTATGATACTGGATGGGACAGTGGCTACTAGGAAACAATGTTCTGAGGTTTAAGTTACCAGAATATGAAAAAATCAAGGTGAAAGTGCTTTAGTTATAAGACAAGTATCTGCATAAACAGTAAACTGCATATCTAGGTCAGGGAATAACTAGGTTGGCAGCCACAGCAATAGACTCCCACTAGAAGTCTAGAAGATGCCCAGCATTTTAGAACAAATGGAATTTTCCTGGCTTGTTTCCTAGAGTTCCTGTGTACAAATCTGGAAACATCTGAAAAGCCAGCAGCTTTATGATAATTCCTTTAAATAAGTATTTGTGTCTGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAATTTGATAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCCAAGACTGCACTCCAGCCTGCGCAAAAAAGAGTGAAACTCCATCTCAAAAAAGCAAAACAAAACAAAAAAACACAAGTATTTGCTTTAGTTCCCATCACTCCTGTTAGAGAAAGAACTTGTCAGCACCTTACATGTAGTAAAATGTACATATTCGAATCCTAGGTCAACAAAACACTTGTTCTGACCCCAAATTCACCCTCATGTAAATGTTACCACCTCAGCAAATGCTACTACATGCCCAATTCTCATTCTTTTTGAGAAAATGTCCAAAACTGGAAAGACAGCAACAAATCCCAAATACCAGTGAATGGACACGTGTTCTCTGTCCCACTTCAAAGTAACAGCAGACCAACTACCAAGAAGTACCCCCACACTCACCTGCTGGGCTATGAGATCCAGCCGGCTTTCCAGGGTGTTGGAAACCTTTATTTTACGATCTCCATTATAGATCTCAACTCCACCAGCTCTGCAAAAAAAAAAAGCACAGGAAATAATCATTTTCAAAGACTTGAGAAAGATACATGGTACCCTTTACTCCCGCAGAGGAATGCCCTTGTCTTGGTGTGTAGACTGCGCAACCTAAGCAACAGGCTTGAAAGGAACTGAAAAAGCTTCTGAAGATGTAACGCACAGTTGGTTTCAGGAAACCCCAGTCCCCGCCTAGATGTCCATTATATGAAACAGCGTAGTATTTGCATACAACCATCACACATCCTCCCCTATATTGCAAATCATGTCTACAGCACTTAAAATAGCTAATACGATGTAAATGGTTGTTATACCGTAGTGTTTAGGGAGTGAAAAGAAAAAGTTGGTTGAATTCACAGGTGTGGACCCCAAAGATACAGAGAACTGACTGTATTCATCTCAATAACTGTCATTTACCAAGTGACACTATGTGTCAATTTGTTTTGTTTTTTTTGAGACTCGCTCTGTTGCCCAGGCAGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAATTCTCCTGCGTCAGCCTCCCCAGTAGCTGGGATTACAGGCACCTGCCATCACGCCTGGCTAATTTTTGTATTGTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCTGCCTCCACAAGTGTTGGGATTACAGGAGTGAGTCACCGCGCCCAGCCTGTGTCAATTTGATTTTATGTTACAAAACCTGTTTTAATTATCACAGCCAGCCCTCCCCAACAAAATGAAAAAGAGAGGATTTCATCTCAGTTTGCAAATCACTCAATCCTCATCTGAATGTTTTCTTAAGCCCAATCCTGCTCATTACTGATGAGGCCCTATCACGACTGCATGTGTGTCTGATAAAAGATGCCACTGCTGGCCGGGCGTGGTAGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGCTCCCAAACTCAAGTTTGAGGCCAGCCTGGCCAACATGGCGAAAGCCTGTCTCCACTAAAAATACAAAAATTAGCTGGGCATGGTGGGGCGTGCCTGTAGTCCCAGCTACTTGAGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGCAAGCCGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAAAGAGACCCTTACTCAAAATACAACAACAACAACAAAAAAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCTCTTTGAGAGGCCGAGGTGGGCAGATCACGACATCAGGAGATTGAGACAATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCGAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTAATCGGGAGGCTAAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGGGTGAGAGTGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAGATAAAAAATGCTATGAGGTTAGTGCTAATACGTCAATTTACAGATAAGGGAATCAGGGCTCACTACTATGGTTTGAGTCTGTTCCCTCAGAAACTAATGGTGAAATTTGATTCTCAATGTGGCAGTGTTGGGAGGTGGAGCATAGTAGGAGGTGTTCAGGGCTCAAGGGCAGATCCCGAGGCAATGAACTGTGGCGAGGGCCTGGATTCTAGCTCCGGCAGGACTCGACTGTGAGCAGAGGGTGGGCTGGTATGATAGGGAGTCTGGTTCCCTAGGCTCTCTGGCCTCCTCTCTCGCCATGTGGTCTCTATGCACACACCCACTCCCCTTCCACCTTCTGCCATGAGTGGAAGCAGCCTGAGGCCCTCACCAGATGCAGCTGTCCAATCTTGAACTTTCCAGCCATGAGAATCATGAACCAAATAAACCTCTTTTCTCCATGAATTACCCAGCCTCGGGTATTCTGTTATAGCAACACTAAATGGACGACACCACTCAATGAAACTGAATA
|
benign
| 321,801 |
Chromosome 22, position 17594620, gene ATP6V1E1 (ATPase H+ transporting V1 subunit E1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
GGCAGTGAAGAGGAAGCTACAGAGACATTCGTGTTTCTTCAAATATCAGAAGCTTCCACATCACAGCAGGAGAGCTGACGACGAGCTCCACCTCCTGAAGGCTTAGTCCAAAAACTTCCTGTTGGCATTTGCACCAAACAAGGCTCCCCGGACTTCTGGCATCATCTGTGGAGAGAAAGTGTAATAAATACGCAATGTCAGCTGAAGAAGTTGTAGAGCGCTGCACATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCCGCTCATTGCAAGCTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGATGGGACTACAGGTGCTTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCAAGCCTGGCCAGAGTGCTGCACATCTTAACCACAGGTGGAAAGCCATGAACCTCTATGTGGCTGGGAAGGACTCACAAAGCCACGCACATCAAAGCCACCCTCTCCTTCCCTGAAGCAAGTAACACATTCCTTGGTGAGAAACTTAACTCATCCCAAATCTGGGGTTCAGACTGCTTACAAAAGGGACACATTAAAAAAAAACAAAACAAAAAAAAACCTAAAGTCACTACTATCTCAGACTTAACTCATCATAATCATCTCACCACAATATGCTGGGTCACCTACACTCTTTCTTCAACAAACATTTACTGAGTGCCTACTATGGCCACAGCAGCTGCAAAGAACACTTCCAATGCCAGCTTAGGCTGGAAGCACTTGCTACAGCCACTGATGAATCCTTAGGAGAACTTAACCCTGGACTTCCAAGGCTCGGCTGTCCAACAGGGCAGTCCTAGCTACAGATGGTTATTGTGTGCTGAGAAACTGAATTTTTCGGTTTAATTAAATATCCGTAAGTGAGTAGTGGCTATGATACTGGATGGGACAGTGGCTACTAGGAAACAATGTTCTGAGGTTTAAGTTACCAGAATATGAAAAAATCAAGGTGAAAGTGCTTTAGTTATAAGACAAGTATCTGCATAAACAGTAAACTGCATATCTAGGTCAGGGAATAACTAGGTTGGCAGCCACAGCAATAGACTCCCACTAGAAGTCTAGAAGATGCCCAGCATTTTAGAACAAATGGAATTTTCCTGGCTTGTTTCCTAGAGTTCCTGTGTACAAATCTGGAAACATCTGAAAAGCCAGCAGCTTTATGATAATTCCTTTAAATAAGTATTTGTGTCTGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAATTTGATAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCCAAGACTGCACTCCAGCCTGCGCAAAAAAGAGTGAAACTCCATCTCAAAAAAGCAAAACAAAACAAAAAAACACAAGTATTTGCTTTAGTTCCCATCACTCCTGTTAGAGAAAGAACTTGTCAGCACCTTACATGTAGTAAAATGTACATATTCGAATCCTAGGTCAACAAAACACTTGTTCTGACCCCAAATTCACCCTCATGTAAATGTTACCACCTCAGCAAATGCTACTACATGCCCAATTCTCATTCTTTTTGAGAAAATGTCCAAAACTGGAAAGACAGCAACAAATCCCAAATACCAGTGAATGGACACGTGTTCTCTGTCCCACTTCAAAGTAACAGCAGACCAACTACCAAGAAGTACCCCCACACTCACCTGCTGGGCTATGAGATCCAGCCGGCTTTCCAGGGTGTTGGAAACCTTTATTTTACGATCTCCATTATAGATCTCAACTCCACCAGCTCTGCAAAAAAAAAAGCACAGGAAATAATCATTTTCAAAGACTTGAGAAAGATACATGGTACCCTTTACTCCCGCAGAGGAATGCCCTTGTCTTGGTGTGTAGACTGCGCAACCTAAGCAACAGGCTTGAAAGGAACTGAAAAAGCTTCTGAAGATGTAACGCACAGTTGGTTTCAGGAAACCCCAGTCCCCGCCTAGATGTCCATTATATGAAACAGCGTAGTATTTGCATACAACCATCACACATCCTCCCCTATATTGCAAATCATGTCTACAGCACTTAAAATAGCTAATACGATGTAAATGGTTGTTATACCGTAGTGTTTAGGGAGTGAAAAGAAAAAGTTGGTTGAATTCACAGGTGTGGACCCCAAAGATACAGAGAACTGACTGTATTCATCTCAATAACTGTCATTTACCAAGTGACACTATGTGTCAATTTGTTTTGTTTTTTTTGAGACTCGCTCTGTTGCCCAGGCAGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAATTCTCCTGCGTCAGCCTCCCCAGTAGCTGGGATTACAGGCACCTGCCATCACGCCTGGCTAATTTTTGTATTGTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCTGCCTCCACAAGTGTTGGGATTACAGGAGTGAGTCACCGCGCCCAGCCTGTGTCAATTTGATTTTATGTTACAAAACCTGTTTTAATTATCACAGCCAGCCCTCCCCAACAAAATGAAAAAGAGAGGATTTCATCTCAGTTTGCAAATCACTCAATCCTCATCTGAATGTTTTCTTAAGCCCAATCCTGCTCATTACTGATGAGGCCCTATCACGACTGCATGTGTGTCTGATAAAAGATGCCACTGCTGGCCGGGCGTGGTAGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGCTCCCAAACTCAAGTTTGAGGCCAGCCTGGCCAACATGGCGAAAGCCTGTCTCCACTAAAAATACAAAAATTAGCTGGGCATGGTGGGGCGTGCCTGTAGTCCCAGCTACTTGAGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGCAAGCCGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAAAGAGACCCTTACTCAAAATACAACAACAACAACAAAAAAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCTCTTTGAGAGGCCGAGGTGGGCAGATCACGACATCAGGAGATTGAGACAATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCGAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTAATCGGGAGGCTAAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGGGTGAGAGTGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAGATAAAAAATGCTATGAGGTTAGTGCTAATACGTCAATTTACAGATAAGGGAATCAGGGCTCACTACTATGGTTTGAGTCTGTTCCCTCAGAAACTAATGGTGAAATTTGATTCTCAATGTGGCAGTGTTGGGAGGTGGAGCATAGTAGGAGGTGTTCAGGGCTCAAGGGCAGATCCCGAGGCAATGAACTGTGGCGAGGGCCTGGATTCTAGCTCCGGCAGGACTCGACTGTGAGCAGAGGGTGGGCTGGTATGATAGGGAGTCTGGTTCCCTAGGCTCTCTGGCCTCCTCTCTCGCCATGTGGTCTCTATGCACACACCCACTCCCCTTCCACCTTCTGCCATGAGTGGAAGCAGCCTGAGGCCCTCACCAGATGCAGCTGTCCAATCTTGAACTTTCCAGCCATGAGAATCATGAACCAAATAAACCTCTTTTCTCCATGAATTACCCAGCCTCGGGTATTCTGTTATAGCAACACTAAATGGACGACACCACTCAATGAAACTGAATAA
|
GGCAGTGAAGAGGAAGCTACAGAGACATTCGTGTTTCTTCAAATATCAGAAGCTTCCACATCACAGCAGGAGAGCTGACGACGAGCTCCACCTCCTGAAGGCTTAGTCCAAAAACTTCCTGTTGGCATTTGCACCAAACAAGGCTCCCCGGACTTCTGGCATCATCTGTGGAGAGAAAGTGTAATAAATACGCAATGTCAGCTGAAGAAGTTGTAGAGCGCTGCACATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCATCTCCGCTCATTGCAAGCTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGATGGGACTACAGGTGCTTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCAAGCCTGGCCAGAGTGCTGCACATCTTAACCACAGGTGGAAAGCCATGAACCTCTATGTGGCTGGGAAGGACTCACAAAGCCACGCACATCAAAGCCACCCTCTCCTTCCCTGAAGCAAGTAACACATTCCTTGGTGAGAAACTTAACTCATCCCAAATCTGGGGTTCAGACTGCTTACAAAAGGGACACATTAAAAAAAAACAAAACAAAAAAAAACCTAAAGTCACTACTATCTCAGACTTAACTCATCATAATCATCTCACCACAATATGCTGGGTCACCTACACTCTTTCTTCAACAAACATTTACTGAGTGCCTACTATGGCCACAGCAGCTGCAAAGAACACTTCCAATGCCAGCTTAGGCTGGAAGCACTTGCTACAGCCACTGATGAATCCTTAGGAGAACTTAACCCTGGACTTCCAAGGCTCGGCTGTCCAACAGGGCAGTCCTAGCTACAGATGGTTATTGTGTGCTGAGAAACTGAATTTTTCGGTTTAATTAAATATCCGTAAGTGAGTAGTGGCTATGATACTGGATGGGACAGTGGCTACTAGGAAACAATGTTCTGAGGTTTAAGTTACCAGAATATGAAAAAATCAAGGTGAAAGTGCTTTAGTTATAAGACAAGTATCTGCATAAACAGTAAACTGCATATCTAGGTCAGGGAATAACTAGGTTGGCAGCCACAGCAATAGACTCCCACTAGAAGTCTAGAAGATGCCCAGCATTTTAGAACAAATGGAATTTTCCTGGCTTGTTTCCTAGAGTTCCTGTGTACAAATCTGGAAACATCTGAAAAGCCAGCAGCTTTATGATAATTCCTTTAAATAAGTATTTGTGTCTGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAATTTGATAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCCAAGACTGCACTCCAGCCTGCGCAAAAAAGAGTGAAACTCCATCTCAAAAAAGCAAAACAAAACAAAAAAACACAAGTATTTGCTTTAGTTCCCATCACTCCTGTTAGAGAAAGAACTTGTCAGCACCTTACATGTAGTAAAATGTACATATTCGAATCCTAGGTCAACAAAACACTTGTTCTGACCCCAAATTCACCCTCATGTAAATGTTACCACCTCAGCAAATGCTACTACATGCCCAATTCTCATTCTTTTTGAGAAAATGTCCAAAACTGGAAAGACAGCAACAAATCCCAAATACCAGTGAATGGACACGTGTTCTCTGTCCCACTTCAAAGTAACAGCAGACCAACTACCAAGAAGTACCCCCACACTCACCTGCTGGGCTATGAGATCCAGCCGGCTTTCCAGGGTGTTGGAAACCTTTATTTTACGATCTCCATTATAGATCTCAACTCCACCAGCTCTGCAAAAAAAAAGCACAGGAAATAATCATTTTCAAAGACTTGAGAAAGATACATGGTACCCTTTACTCCCGCAGAGGAATGCCCTTGTCTTGGTGTGTAGACTGCGCAACCTAAGCAACAGGCTTGAAAGGAACTGAAAAAGCTTCTGAAGATGTAACGCACAGTTGGTTTCAGGAAACCCCAGTCCCCGCCTAGATGTCCATTATATGAAACAGCGTAGTATTTGCATACAACCATCACACATCCTCCCCTATATTGCAAATCATGTCTACAGCACTTAAAATAGCTAATACGATGTAAATGGTTGTTATACCGTAGTGTTTAGGGAGTGAAAAGAAAAAGTTGGTTGAATTCACAGGTGTGGACCCCAAAGATACAGAGAACTGACTGTATTCATCTCAATAACTGTCATTTACCAAGTGACACTATGTGTCAATTTGTTTTGTTTTTTTTGAGACTCGCTCTGTTGCCCAGGCAGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAATTCTCCTGCGTCAGCCTCCCCAGTAGCTGGGATTACAGGCACCTGCCATCACGCCTGGCTAATTTTTGTATTGTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCTGCCTCCACAAGTGTTGGGATTACAGGAGTGAGTCACCGCGCCCAGCCTGTGTCAATTTGATTTTATGTTACAAAACCTGTTTTAATTATCACAGCCAGCCCTCCCCAACAAAATGAAAAAGAGAGGATTTCATCTCAGTTTGCAAATCACTCAATCCTCATCTGAATGTTTTCTTAAGCCCAATCCTGCTCATTACTGATGAGGCCCTATCACGACTGCATGTGTGTCTGATAAAAGATGCCACTGCTGGCCGGGCGTGGTAGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGCTCCCAAACTCAAGTTTGAGGCCAGCCTGGCCAACATGGCGAAAGCCTGTCTCCACTAAAAATACAAAAATTAGCTGGGCATGGTGGGGCGTGCCTGTAGTCCCAGCTACTTGAGAGACTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGCAAGCCGAGATCACACCACTGCACTCCAGCTTGGGTGACAGAAAGAGACCCTTACTCAAAATACAACAACAACAACAAAAAAAGAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCTCTTTGAGAGGCCGAGGTGGGCAGATCACGACATCAGGAGATTGAGACAATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCGAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTAATCGGGAGGCTAAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTGGGTGAGAGTGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAGATAAAAAATGCTATGAGGTTAGTGCTAATACGTCAATTTACAGATAAGGGAATCAGGGCTCACTACTATGGTTTGAGTCTGTTCCCTCAGAAACTAATGGTGAAATTTGATTCTCAATGTGGCAGTGTTGGGAGGTGGAGCATAGTAGGAGGTGTTCAGGGCTCAAGGGCAGATCCCGAGGCAATGAACTGTGGCGAGGGCCTGGATTCTAGCTCCGGCAGGACTCGACTGTGAGCAGAGGGTGGGCTGGTATGATAGGGAGTCTGGTTCCCTAGGCTCTCTGGCCTCCTCTCTCGCCATGTGGTCTCTATGCACACACCCACTCCCCTTCCACCTTCTGCCATGAGTGGAAGCAGCCTGAGGCCCTCACCAGATGCAGCTGTCCAATCTTGAACTTTCCAGCCATGAGAATCATGAACCAAATAAACCTCTTTTCTCCATGAATTACCCAGCCTCGGGTATTCTGTTATAGCAACACTAAATGGACGACACCACTCAATGAAACTGAATAAN
|
benign
| 321,802 |
Determine if the mutation at chromosome 22, position 18078398 in gene PEX26 is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B']
|
CTTAATGCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTTCTCCCCAGTTCTCTACCCTTTGAATTCACTCCAAAGCTTCCCTAGAATCTTTGCTCTCCTAGAAATTAGATTAAACAGGCACCTGCTCACATCATACATCCCCTGCCCTTGTCACCAGACATGCACACATCCATCTTCTGGGATTTCCGTTCTCTTGCAGAAAAGTCTGCATGGGAAGCTGAGGCAGAACCAAGTCCACCAGACTCCGAGGAAAGAGAAGTCTGGACCCTGTAACCAGATAAAAGTGAAACCAGGACTTCATTTATTCCACAAATACTTTTTGACTACCTATAGATGACAGGCACTGTTCAAGGCATTGAGGTTCCCACAGTGAACAAAAGAGACAAAAACGTCTGCCTTTGTGAGTTTATATCATAGTGGAAGGAAATAGACAATAAAAATAAGTAAAATATAGACATTGGTATGTAGATGGTGATAAATGATAAGGAGAAATATAAAGACAGATCGGAAGTGACAACAGTGGGGAAGTGGAATTGGTATCTGCATTTAACGTTGTTTTTTAACAGCAAATTCAGGATGGGGCAGAGAGCAGTGAGAAAAATGAGGCCCTTATGCTCAGCGCCCCCAACCCCGCCTCGGTGGGGTCACTATTCATTTTGGAACATTGCCCTTGGGACCAACATATTCTCAGTGGTCCTTGTGAAGGTTTCCACCCTAAGTCCCTCATCCTCACCAGGCAATATTCATTACCCTACAGCAAACTCCGGAGGCAACGCGGAGAAAGTGTGAATCAATTCAAGACTAAGGTTGCCAAAATGTTTGATCAGCTCTGCGTCAGCCTTGACATTACATTACATTACAGATCCCCTGATCGCCACCGTCGCAGAAGCTCTGAATTAAAAGCGTGCATGTAGCTGCACATCCATTGCTGGCACTTCTTCCGTTAGCCTCCGCTGGAACTGGTTAGTGAGGACCCCTCCATTTCACAAGACAGCTTCGGTTTTGCTTCGTTTTGACTTCCGCACCCCGAAGCTGTAGCACCAGTTTGTTTTCTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCT
|
CTTAATGCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTTCTCCCCAGTTCTCTACCCTTTGAATTCACTCCAAAGCTTCCCTAGAATCTTTGCTCTCCTAGAAATTAGATTAAACAGGCACCTGCTCACATCATACATCCCCTGCCCTTGTCACCAGACATGCACACATCCATCTTCTGGGATTTCCGTTCTCTTGCAGAAAAGTCTGCATGGGAAGCTGAGGCAGAACCAAGTCCACCAGACTCCGAGGAAAGAGAAGTCTGGACCCTGTAACCAGATAAAAGTGAAACCAGGACTTCATTTATTCCACAAATACTTTTTGACTACCTATAGATGACAGGCACTGTTCAAGGCATTGAGGTTCCCACAGTGAACAAAAGAGACAAAAACGTCTGCCTTTGTGAGTTTATATCATAGTGGAAGGAAATAGACAATAAAAATAAGTAAAATATAGACATTGGTATGTAGATGGTGATAAATGATAAGGAGAAATATAAAGACAGATCGGAAGTGACAACAGTGGGGAAGTGGAATTGGTATCTGCATTTAACGTTGTTTTTTAACAGCAAATTCAGGATGGGGCAGAGAGCAGTGAGAAAAATGAGGCCCTTATGCTCAGCGCCCCCAACCCCGCCTCGGTGGGGTCACTATTCATTTTGGAACATTGCCCTTGGGACCAACATATTCTCAGTGGTCCTTGTGAAGGTTTCCACCCTAAGTCCCTCATCCTCACCAGGCAATATTCATTACCCTACAGCAAACTCCGGAGGCAACGCGGAGAAAGTGTGAATCAATTCAAGACTAAGGTTGCCAAAATGTTTGATCAGCTCTGCGTCAGCCTTGACATTACATTACATTACAGATCCCCTGATCGCCACCGTCGCAGAAGCTCTGAATTAAAAGCGTGCATGTAGCTGCACATCCATTGCTGGCACTTCTTCCGTTAGCCTCCGCTGGAACTGGTTAGTGAGGACCCCTCCATTTCACAAGACAGCTTCGGTTTTGCTTCGTTTTGACTTCCGCACCCCGAAGCTGTAGCACCAGTTTGTTTTCTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCT
|
pathogenic
| 321,854 |
For chromosome 22, position 18078404, gene PEX26 (peroxisomal biogenesis factor 26): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B']
|
GCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTTCTCCCCAGTTCTCTACCCTTTGAATTCACTCCAAAGCTTCCCTAGAATCTTTGCTCTCCTAGAAATTAGATTAAACAGGCACCTGCTCACATCATACATCCCCTGCCCTTGTCACCAGACATGCACACATCCATCTTCTGGGATTTCCGTTCTCTTGCAGAAAAGTCTGCATGGGAAGCTGAGGCAGAACCAAGTCCACCAGACTCCGAGGAAAGAGAAGTCTGGACCCTGTAACCAGATAAAAGTGAAACCAGGACTTCATTTATTCCACAAATACTTTTTGACTACCTATAGATGACAGGCACTGTTCAAGGCATTGAGGTTCCCACAGTGAACAAAAGAGACAAAAACGTCTGCCTTTGTGAGTTTATATCATAGTGGAAGGAAATAGACAATAAAAATAAGTAAAATATAGACATTGGTATGTAGATGGTGATAAATGATAAGGAGAAATATAAAGACAGATCGGAAGTGACAACAGTGGGGAAGTGGAATTGGTATCTGCATTTAACGTTGTTTTTTAACAGCAAATTCAGGATGGGGCAGAGAGCAGTGAGAAAAATGAGGCCCTTATGCTCAGCGCCCCCAACCCCGCCTCGGTGGGGTCACTATTCATTTTGGAACATTGCCCTTGGGACCAACATATTCTCAGTGGTCCTTGTGAAGGTTTCCACCCTAAGTCCCTCATCCTCACCAGGCAATATTCATTACCCTACAGCAAACTCCGGAGGCAACGCGGAGAAAGTGTGAATCAATTCAAGACTAAGGTTGCCAAAATGTTTGATCAGCTCTGCGTCAGCCTTGACATTACATTACATTACAGATCCCCTGATCGCCACCGTCGCAGAAGCTCTGAATTAAAAGCGTGCATGTAGCTGCACATCCATTGCTGGCACTTCTTCCGTTAGCCTCCGCTGGAACTGGTTAGTGAGGACCCCTCCATTTCACAAGACAGCTTCGGTTTTGCTTCGTTTTGACTTCCGCACCCCGAAGCTGTAGCACCAGTTTGTTTTCTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCT
|
GCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTTCTCCCCAGTTCTCTACCCTTTGAATTCACTCCAAAGCTTCCCTAGAATCTTTGCTCTCCTAGAAATTAGATTAAACAGGCACCTGCTCACATCATACATCCCCTGCCCTTGTCACCAGACATGCACACATCCATCTTCTGGGATTTCCGTTCTCTTGCAGAAAAGTCTGCATGGGAAGCTGAGGCAGAACCAAGTCCACCAGACTCCGAGGAAAGAGAAGTCTGGACCCTGTAACCAGATAAAAGTGAAACCAGGACTTCATTTATTCCACAAATACTTTTTGACTACCTATAGATGACAGGCACTGTTCAAGGCATTGAGGTTCCCACAGTGAACAAAAGAGACAAAAACGTCTGCCTTTGTGAGTTTATATCATAGTGGAAGGAAATAGACAATAAAAATAAGTAAAATATAGACATTGGTATGTAGATGGTGATAAATGATAAGGAGAAATATAAAGACAGATCGGAAGTGACAACAGTGGGGAAGTGGAATTGGTATCTGCATTTAACGTTGTTTTTTAACAGCAAATTCAGGATGGGGCAGAGAGCAGTGAGAAAAATGAGGCCCTTATGCTCAGCGCCCCCAACCCCGCCTCGGTGGGGTCACTATTCATTTTGGAACATTGCCCTTGGGACCAACATATTCTCAGTGGTCCTTGTGAAGGTTTCCACCCTAAGTCCCTCATCCTCACCAGGCAATATTCATTACCCTACAGCAAACTCCGGAGGCAACGCGGAGAAAGTGTGAATCAATTCAAGACTAAGGTTGCCAAAATGTTTGATCAGCTCTGCGTCAGCCTTGACATTACATTACATTACAGATCCCCTGATCGCCACCGTCGCAGAAGCTCTGAATTAAAAGCGTGCATGTAGCTGCACATCCATTGCTGGCACTTCTTCCGTTAGCCTCCGCTGGAACTGGTTAGTGAGGACCCCTCCATTTCACAAGACAGCTTCGGTTTTGCTTCGTTTTGACTTCCGCACCCCGAAGCTGTAGCACCAGTTTGTTTTCTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCC
|
pathogenic
| 321,855 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 18078404, gene PEX26 (peroxisomal biogenesis factor 26). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)']
|
GCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTTCTCCCCAGTTCTCTACCCTTTGAATTCACTCCAAAGCTTCCCTAGAATCTTTGCTCTCCTAGAAATTAGATTAAACAGGCACCTGCTCACATCATACATCCCCTGCCCTTGTCACCAGACATGCACACATCCATCTTCTGGGATTTCCGTTCTCTTGCAGAAAAGTCTGCATGGGAAGCTGAGGCAGAACCAAGTCCACCAGACTCCGAGGAAAGAGAAGTCTGGACCCTGTAACCAGATAAAAGTGAAACCAGGACTTCATTTATTCCACAAATACTTTTTGACTACCTATAGATGACAGGCACTGTTCAAGGCATTGAGGTTCCCACAGTGAACAAAAGAGACAAAAACGTCTGCCTTTGTGAGTTTATATCATAGTGGAAGGAAATAGACAATAAAAATAAGTAAAATATAGACATTGGTATGTAGATGGTGATAAATGATAAGGAGAAATATAAAGACAGATCGGAAGTGACAACAGTGGGGAAGTGGAATTGGTATCTGCATTTAACGTTGTTTTTTAACAGCAAATTCAGGATGGGGCAGAGAGCAGTGAGAAAAATGAGGCCCTTATGCTCAGCGCCCCCAACCCCGCCTCGGTGGGGTCACTATTCATTTTGGAACATTGCCCTTGGGACCAACATATTCTCAGTGGTCCTTGTGAAGGTTTCCACCCTAAGTCCCTCATCCTCACCAGGCAATATTCATTACCCTACAGCAAACTCCGGAGGCAACGCGGAGAAAGTGTGAATCAATTCAAGACTAAGGTTGCCAAAATGTTTGATCAGCTCTGCGTCAGCCTTGACATTACATTACATTACAGATCCCCTGATCGCCACCGTCGCAGAAGCTCTGAATTAAAAGCGTGCATGTAGCTGCACATCCATTGCTGGCACTTCTTCCGTTAGCCTCCGCTGGAACTGGTTAGTGAGGACCCCTCCATTTCACAAGACAGCTTCGGTTTTGCTTCGTTTTGACTTCCGCACCCCGAAGCTGTAGCACCAGTTTGTTTTCTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCT
|
GCGCATGGCGCTTTATGCGCAATATTACTTAATTCTTCCCTCAGCCATTGGGAGCTAAGGACAAACTGTTATCCCAATTTTACAGGTGAGGAAATCAGAGCTTATTTAAATAAATTGCCGAGGTCACACAACTAGTAAGCGACAAAATCTCAGTCAAACCGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTTCTCCCCAGTTCTCTACCCTTTGAATTCACTCCAAAGCTTCCCTAGAATCTTTGCTCTCCTAGAAATTAGATTAAACAGGCACCTGCTCACATCATACATCCCCTGCCCTTGTCACCAGACATGCACACATCCATCTTCTGGGATTTCCGTTCTCTTGCAGAAAAGTCTGCATGGGAAGCTGAGGCAGAACCAAGTCCACCAGACTCCGAGGAAAGAGAAGTCTGGACCCTGTAACCAGATAAAAGTGAAACCAGGACTTCATTTATTCCACAAATACTTTTTGACTACCTATAGATGACAGGCACTGTTCAAGGCATTGAGGTTCCCACAGTGAACAAAAGAGACAAAAACGTCTGCCTTTGTGAGTTTATATCATAGTGGAAGGAAATAGACAATAAAAATAAGTAAAATATAGACATTGGTATGTAGATGGTGATAAATGATAAGGAGAAATATAAAGACAGATCGGAAGTGACAACAGTGGGGAAGTGGAATTGGTATCTGCATTTAACGTTGTTTTTTAACAGCAAATTCAGGATGGGGCAGAGAGCAGTGAGAAAAATGAGGCCCTTATGCTCAGCGCCCCCAACCCCGCCTCGGTGGGGTCACTATTCATTTTGGAACATTGCCCTTGGGACCAACATATTCTCAGTGGTCCTTGTGAAGGTTTCCACCCTAAGTCCCTCATCCTCACCAGGCAATATTCATTACCCTACAGCAAACTCCGGAGGCAACGCGGAGAAAGTGTGAATCAATTCAAGACTAAGGTTGCCAAAATGTTTGATCAGCTCTGCGTCAGCCTTGACATTACATTACATTACAGATCCCCTGATCGCCACCGTCGCAGAAGCTCTGAATTAAAAGCGTGCATGTAGCTGCACATCCATTGCTGGCACTTCTTCCGTTAGCCTCCGCTGGAACTGGTTAGTGAGGACCCCTCCATTTCACAAGACAGCTTCGGTTTTGCTTCGTTTTGACTTCCGCACCCCGAAGCTGTAGCACCAGTTTGTTTTCTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTN
|
pathogenic
| 321,856 |
Is the genetic variant on chromosome 22, position 18078563, gene PEX26 (peroxisomal biogenesis factor 26), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['PEX26-related_disorder', 'Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B']
|
CGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTTCTCCCCAGTTCTCTACCCTTTGAATTCACTCCAAAGCTTCCCTAGAATCTTTGCTCTCCTAGAAATTAGATTAAACAGGCACCTGCTCACATCATACATCCCCTGCCCTTGTCACCAGACATGCACACATCCATCTTCTGGGATTTCCGTTCTCTTGCAGAAAAGTCTGCATGGGAAGCTGAGGCAGAACCAAGTCCACCAGACTCCGAGGAAAGAGAAGTCTGGACCCTGTAACCAGATAAAAGTGAAACCAGGACTTCATTTATTCCACAAATACTTTTTGACTACCTATAGATGACAGGCACTGTTCAAGGCATTGAGGTTCCCACAGTGAACAAAAGAGACAAAAACGTCTGCCTTTGTGAGTTTATATCATAGTGGAAGGAAATAGACAATAAAAATAAGTAAAATATAGACATTGGTATGTAGATGGTGATAAATGATAAGGAGAAATATAAAGACAGATCGGAAGTGACAACAGTGGGGAAGTGGAATTGGTATCTGCATTTAACGTTGTTTTTTAACAGCAAATTCAGGATGGGGCAGAGAGCAGTGAGAAAAATGAGGCCCTTATGCTCAGCGCCCCCAACCCCGCCTCGGTGGGGTCACTATTCATTTTGGAACATTGCCCTTGGGACCAACATATTCTCAGTGGTCCTTGTGAAGGTTTCCACCCTAAGTCCCTCATCCTCACCAGGCAATATTCATTACCCTACAGCAAACTCCGGAGGCAACGCGGAGAAAGTGTGAATCAATTCAAGACTAAGGTTGCCAAAATGTTTGATCAGCTCTGCGTCAGCCTTGACATTACATTACATTACAGATCCCCTGATCGCCACCGTCGCAGAAGCTCTGAATTAAAAGCGTGCATGTAGCTGCACATCCATTGCTGGCACTTCTTCCGTTAGCCTCCGCTGGAACTGGTTAGTGAGGACCCCTCCATTTCACAAGACAGCTTCGGTTTTGCTTCGTTTTGACTTCCGCACCCCGAAGCTGTAGCACCAGTTTGTTTTCTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATG
|
CGAGGCTCTTTTGGTTCAAAGATGTGTATTGAGCTCTACTCTGCTCTGCAGGGACAGAACTAAGTATGTTTGCTATTCAGGGGATACACAGTCATTCCATGAGCAAGTTACACAATGTAAAATAAGGACATTGTGAAAAACAAAACCATACCGTACATAATGCACTTTATAGTAAAGTACTGGGAACAGAGTATTTGGTAAATTGTAACTATAATAATAATTTTAAACAGATCCACAAATCACACTTATTATTATATTCTGTTTCACCCGGGCTTTGCCAAGCTTCCCACATTTGTACTAGATCCTCTTGGCTTTAGTTTCTCCCCAGTTCTCTACCCTTTGAATTCACTCCAAAGCTTCCCTAGAATCTTTGCTCTCCTAGAAATTAGATTAAACAGGCACCTGCTCACATCATACATCCCCTGCCCTTGTCACCAGACATGCACACATCCATCTTCTGGGATTTCCGTTCTCTTGCAGAAAAGTCTGCATGGGAAGCTGAGGCAGAACCAAGTCCACCAGACTCCGAGGAAAGAGAAGTCTGGACCCTGTAACCAGATAAAAGTGAAACCAGGACTTCATTTATTCCACAAATACTTTTTGACTACCTATAGATGACAGGCACTGTTCAAGGCATTGAGGTTCCCACAGTGAACAAAAGAGACAAAAACGTCTGCCTTTGTGAGTTTATATCATAGTGGAAGGAAATAGACAATAAAAATAAGTAAAATATAGACATTGGTATGTAGATGGTGATAAATGATAAGGAGAAATATAAAGACAGATCGGAAGTGACAACAGTGGGGAAGTGGAATTGGTATCTGCATTTAACGTTGTTTTTTAACAGCAAATTCAGGATGGGGCAGAGAGCAGTGAGAAAAATGAGGCCCTTATGCTCAGCGCCCCCAACCCCGCCTCGGTGGGGTCACTATTCATTTTGGAACATTGCCCTTGGGACCAACATATTCTCAGTGGTCCTTGTGAAGGTTTCCACCCTAAGTCCCTCATCCTCACCAGGCAATATTCATTACCCTACAGCAAACTCCGGAGGCAACGCGGAGAAAGTGTGAATCAATTCAAGACTAAGGTTGCCAAAATGTTTGATCAGCTCTGCGTCAGCCTTGACATTACATTACATTACAGATCCCCTGATCGCCACCGTCGCAGAAGCTCTGAATTAAAAGCGTGCATGTAGCTGCACATCCATTGCTGGCACTTCTTCCGTTAGCCTCCGCTGGAACTGGTTAGTGAGGACCCCTCCATTTCACAAGACAGCTTCGGTTTTGCTTCGTTTTGACTTCCGCACCCCGAAGCTGTAGCACCAGTTTGTTTTCTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGNN
|
pathogenic
| 321,859 |
For chromosome 22, position 18079896, gene PEX26 (peroxisomal biogenesis factor 26): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B']
|
CTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGG
|
CTCACGGCACAGGGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTG
|
pathogenic
| 321,863 |
Is the genetic variant on chromosome 22, position 18079971, gene PEX26 (peroxisomal biogenesis factor 26), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Peroxisome_biogenesis_disorder_7A_(Zellweger)', 'Peroxisome_biogenesis_disorder_7B']
|
ACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTACCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGCATTTTTTCATATACCTGTTGGCCATGGTACGTCGTC
|
ACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCCTCAGATAGGCCCCTTCCTTTTCCTTCTCGGGGAATCGACCTCGGGAAGGGGTGTGGGCAAAGAGATGAGGACTCTCCCTCTTCGCCCAGGCCAACTCGGGATATCCCGGAGCCTCTGGGGAGGCGGTCACTCCGACGTCTGAGGACCTGGGCCTTGGACCCGGACTCGTTATGAAGAGCGATTCTTCGACCTCTGCAGCCCCCCTCAGGGGGCTCGGGGGACCCCTGCGCAGCAGCGAGCCGGTGCGCGCGGTCCCGGCCCGGGCGCCGGCCGTGGACCTTCTGGAGGAGGCGGCCGACCTCCTGGTGGTGCACCTGGACTTCCGGGCGGCGCTGGAGACCTGCGAGCGGGCCTGGCAGAGTCTGGCCAACCACGCCGTGGCAGAGGAACCCGCGGGCACGTACGTGCTGGGCTCGGAAATGAACCGATTTCCGGGCGCTCTTGTGGTGGGGCTCAAGGTCTCAGGAGTTCTGTCCTTCCCAGATTGCCCACAAGGAGCTTTACACCTCGCTTTCATCAGTGGTTTGTCTCCGAGAGGGTGGTCGCTCATCGTGTGCCCATTCTACAGAGAAGGGAAGTCGTGTAACAAAAACTTAGTGGGGATCCCACAGCCAATTATTTGCTCCTTGTTCCAAGGTACAATGACATGATGGGAAGGCTGAATGTGTATTAAGTGCTAAGTTCTGTCAGTAAGCAGGTGGTAAAAGTCCTCTCCCAGGTACCTCCGCCCTCCCCGCCCCGCCCAAGGTTGTTTATTCCTGACCTTGGCTGATGATGGGGAATGGGGGTCATGGCAGGAGCAGCGTTCTGGTCCAATTAGAGGACTGGATTAAAGAATTAATTCAGGGCCGGGAGCTGGGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGTAACATAATGAGCCCTCTTCTCTACCAAAAAGAAGAAAAAGAAAAGAATCCGGAGAAAAAAACCTTGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAACTTGGGTTAGGCCACGCTAGGGAGGTGGTAGGTAGAATAGCTAAAGTTGACCACAAAGAAGGATGATCTGGAGAGCCCTGGCTGTGTTTTAGGGGACTGGGTGGGAGCTCATTTCAGTGAATGCAGAAGGCTTTGCTTCTGGGTGTCTGGAGGAACCTTACTAGGTGGTGCCTTTTAGCCAGCTATGGAGTCTATACCTCCACTCAGCCAGAAACCTTGCTCCAAGCCCATTTGTTCACAGAGCAAACTCTTAGTTCCAGCTCTCTTTTCAGCCACACACCGGTGCTGTGTGTTATTTCCCCCTCAGGATTACCCTTCCTCTTCATTTAAATCTGATTTCACCTGGATACAAAGATGAACGTTGAGCAACAGCTGACTTGCCTCTTGAAAGAGGGTTACAGGAACTTTTAGTTCCTGGGGGAAAGGGCAGCCCATGAGACCAATTGTGAAGCCCATCTAAATACTAACAGGGATGAGAGAGATGATGGCTGCTGAGTTGGGAGCTGGAGAGGAACAGTCCCAAGGTGGAGGTGGGAATGGAAATGGAGGGGAACCACTTCTAACTGAAATTGGTTTTTCTGCTGACAGCTCATTGGAGGTGAAGTGCTCCCTGTGTGTTGTGGGGATCCAGGCCCTGGCAGAAATGGATCGGTGGCAAGAAGTCCTCTCCTGGGTCCTTCAGTATTCAGGTCCCTGAAAAGCTACCCCCCAAAGTCCTGGAGCTGTGGTAAGTCTTCTTTGCTGACTCATCAGATCGGTTCAGAAACGAGAGGATTTTCATCTCCTCTCCTAAATACCTACTCTTTTCCCCTTCCCTACTATTGCCCTCCAGATCGGATTCTTTCCCTTCACTTTTTTTTCCCCAGACTTCCATACATAGCAATAAAGAATAAGGGGGAGGAATTTAGGAGTAGAATAGATATAAAGAAGGGAGGAAACAGGGAATAGGAGCGACGTGGGATGACAGAGTGGACAGAGCTGAAAGAGCAGCTTGCTACGTCCTAGGAATTCCTAATTCTTAAAAAAAAATTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCCCTGTCGCCCAGGTTGGAGTGCAGTGGCACAGTCTCTGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTGTTTTAAGTAGAGACAGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCATCCCAAAGTGCTGGGATTACAGATGTGAGCCATCGCCCCTGGCCAAAAAATAACAAAGTTTTTAAAATTGACACTTGTACATATTTATGGGGTAAATTAGACATTTCAATATATGCTGTGTATATGTTGTATAATGATCAAATCAGGGTAGTTAGCATATCCATCACCTCATGCATTTATCATTTGTTTGTGACAGGAACATTCAAAAGCCTCTCTTCCGGCTATTTTATATATACAATACCTTACTGTTAACCATAACCACCCTACCGTGCAATAGAACACCACAACTTATTCCTCCTATCCCACCGTAACTTTGTACCCATTGACGAACCTCTTCCCGTCTTCCTTTTCTTCCTTCCTTTCCCAGTCTCTGGTAACCACCGTTCTACCGTCTGCTTCTATGATATCAACTTTTTTTTTTTTTTAAAGATTCACATGAGTGAAATCATGTAGTATTTATCTTTCTGTGCCTGGCTTATTTCACTTAACATGATGTCCCCCAGGTCCACCTGTGTTGTCATGAATGACAAGATTTCATTCTTTTTTATGGCTATATAGTATTCCATTATATATATATATATATATATATATGCGTGTGTGTATATATATACACATATATAAACACATATATACACATAATATACATATATGTACACATATACACACACACACACACACACACACACACACACACATTATCCATTCATCTGTTGTTGGACACTTAGGTTGATTCCATATCTTGGCTGTTGTGAATAGTGCTGCATTAAACAGGGGAGATAATGGATTGCTAGATCATGTGGTAGTTCTATTTTTATTTTTTTCACCTGGCCATTCTTAAGTTTATTTTGATGACACCCGGTGACAGTTCCCTGTACCTAGAAGAAGGTGTTGGGACTCTTGATGTTGGAGTGTGGCTTGTGCTGAAGACACAGGACCTGGTAGGGCAGCAGGAACTTGATCTTGGAATTGTGGAACTGCTTGACTGTCGGCCGGTGGCAGTACCAGAAGCGGGACTTGGCACAACTTGCTTAGGTGCAGAGATTTGCTGGCAGTAGAGGGGCAGCATGTGGCATTTGGGGGTGGGCAGGCAGCAAATACTCTCTCAGTGTGCCCCAGGCCTTCATGGCATTCTCTCAGCACTTGCCACCACTTACAAAAAGGAAGTGCCGTCTTTCCTATTTTGAATTTTTTAAAGGAACCTGCATTCTGTTTTCCATAATGGCTGTACTAATTTACAGTCCCACCAACAGTGTGTAAGTGCTGCCTTTCTCCACATCCTCACCCGCACCAACACTCGTTTTCTTTTGTCTTTTTGATAAGAGCTGTTCTAACTGGAGCGAGGTAGTGTCTCATTGTGGTTTTGATTGGCATTTCCCTGATGATTAGTAGTGTTGAGCATTTTTTCATATACCTGTTGGCCATGGTACGTCGTCNN
|
pathogenic
| 321,866 |
Subsets and Splits
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