Highlighted bases are known variants (red = pathogenic). Hover or tap one for details.
CAGGTGACACATGCATTTAATAGACACATTCCAGGGAGGGAACAGAGGGAGCACTCACTCCCAGCAGGCC
ACTTATAAACACTATGAGACAGGTGGGTGACAACCTGGCATTGAGAGACTCCCCAGCCTCTGCATCTGGA
GGGAGGGAGGGAGGTGGAGCTGGAGGAGGACTTTCCAGCTGCCCGGGCCTCGCAAGATAGGCTGAATGAG
AGCCTTAGGAGAGAGCAGGCTTTGGTTTCACATGTGTAACAGACGGGTGCTGCTGGCAGTCTGGGCACTG
TCAGGAGGGAGAGGCTGGCTTAGGCCTGGGAATGGGTATAGCCAGTACTCCAGGCTCCCAGCAGCACAGG
TGCACCTTACAAGGAGAGAGGAAGGAGGAGGACCCTGGTGTCCAGGTGTGACTGCAAACAGGCCTCAAGG
CAGGGTAGAGGGAGCCATGGGGCTCTCTTAGTGCGTGTAGCTCTTCTGGCTGGAGGATGTGGTGGAGACA
AACTTGACGCTAGAACCACTGCCCCCTAAGCCCCGGTTGCTGGTGGCACTGAATCCAGAACCTCCCAGGC
CTGCACCCAGGCTATGCCCACCACTGGTGGTGAAGGAGTAGCCGCTGCCCCCACCGAGGCCCAGGTTTCC
ACCTCCAATGCTGCTGCCGCTTCCATAGCCACTGGAAAGAGTAGAGGTGACCACAGCTGCCGGGAAGAGA
GGAGGTGTGGTCAGATCAAGTGCAAGCGAGAAGACAGCTGGGAGTGTGAGGGCCTGTGCCCTGGAGTCCT
TGGGTGGGGAGGGGGTGGTCTCGTCAGCCAGCAGTTTGCCTCCTTCCAATGTCCCCTGCTTAGTGAGATC
ACTGCCTGTGTTCCTGAGCTGCAGCTCCAGGCAGCCTCTTAGGCTGGAATGGCTTCCTCCTCCCCTTCCA
GAACCTACTGGAGCCCTCTCCTCCTGGAAGCAGCTCCAGTCCACCTGCTTTCCCTTTGATCCTCCTGCTG
TGCCGTCTGGGTCTGTCTCCCTGTCTGAGCCTGACTCCAGAGTTTCTCTTCCTTCTGGATGCTTATGGGG
GGAGGGGCACACTCCTCTTCCCTCAGCGTCTCCCAGCCCCACACTCAGAATCCCAGGGTGGAGGCTGGAA
TATTCTTGATGGATCAAGTGACAGATTAACCTGTTGGCCAGTGAACTCTGCCCCCGTTCTCCTCCCAACC
TATTCTTCTCCTAATTTATAACTCATCCCCTTACACATTCTAGCACCCTACTTTGGGTCCTGCCGAAGGA
AAATCAAATTTTAAAAAAATAGACTCCGTTATAGGATGAATTGTGTCCTTCAAAAACCTATGGTGAAGTG
TTAACACCAGTATCCGTGAATGCAACCTTATTTGGAAATGGGATCGTTGCAGGTATAACCAAGTTAAGAT
AAAGTCTGTAGGGTGGGCCCTGATCTAACATGACTGGTGTCCATACAGAAAGAAGGAAGACATTCATCTG
AAGCCACAGACACACAGGGACACGGTCATACAATCACAGAAACAGAGAGTGGAGGGATGCAGCCACAAGC
CAAGGAACACCGAGGATGGATGGCCACCGCCAGAGCTAGGAGGAGGCTGGAGGGGGGCTGGGCTGCCCAT
GCTGCCTCCGTGTTCCAGAACACTATCTGGTTTGGAGAGGGGATAGTGCCACCCTGCATGATATACAGAG
CAGGAGGCTGGTCCAGGCTCCAAGTTTCAGAGGGACCAGGGCCCTGCTAACCCTTAATTTCAGCCTCCGG
AACTGTGAGACAAGACATTTCTGTTGCTTTAAACCACCTGACTGGTGGTACTTTTTGCAACAGCCCTGGA
AAACTAATACAGACAATTAGGTGTTTTCAAGAGAAAAGGAGCTTCAAGGTTATGCTTGAAGGCCTGTCCC
CAAAATTAGCTTTGAGGGTCTCTGGCACCACTAGACAAAGACATCAGGGAGGAAGGACACCTGGGTGGTT
CAGAGGGCTCTGCCTTCTAGAATCATTGGCTAATATAATGAATTGCCCTTATGAATGCCCATCAAGAAAA
CCAAACTCAAACTCACTTGTAGAGGGTGAGTTGTAAGAGTCATTTCTGTTGCCCTTGTGATGCCAGCACT
GAGCTCTGCGAATGACCACTTCTTCTCTCACCAGCACAGGGCCATGCCAGCTTGTTAATACCTCTCCTGT
TTTAGAGCTACTGTAGCCAACTGCCATATTTTATGCTGCCCTTACTGCCTTGAAAACCCTTGGCATCCTT
CTGCAGTTATACTCGGCAGAGTTGAGCCAAGCAGTGGAGCTTCTTCTCAAACTGTTTAGGAGAGAAGCTG
CCTAGTTGGCAATGCTCTTGTCCACAGCATGAAGGCTCCCTTCAAAGGTCCAAGCCAGACCAGGAATTTT
CATAAATCCCGTCTACATCAAGTGCTCACCTCTGTGCTAGGCTTGCAGCCCCAACAAAAAGGCAGGGAAT
TCTGGGAGGTAGGAGATGTGGCCAGGATCTTTTAAACCCACTCAGAACAATGACATCAAACCTCTCATCA
CCCCTTCTGTGACACCCTCACTCTCAAAGAGGAAAGAACTGTGACATTAAAGACTCCTAATATGGCTTGC
TTTTTAAGGGACCCAAAACCTCAAACCTTCTCCAAATGAACGCTGTCTGTGAGATCCCGTCTAACCCGTC
ATATCTTCACCCTCTGGCAAGCCCACCACATCCCCATCCCCTCTACCACACACACTCCAAATGGCCCAAG
AAGTATGTCATACTCACAAATGTTAACTGGAGAAACTCCCTCTCCACTCAACCTGATTGGGAAGAGCAGG
GAGAAGGAAGGTTACCAATGTGGCCAGCAGCTTAAGGGCCTTTGCAATGACACTTTTGTAATTGTTGACA
AAGCATTTAAACATACTTTATTATTTTTATTGCAGAAGTAATGCAGGTTGAAATTATTTGAGAACTAGTA
GTATTAAAGATAATATTAATAATCTAATGAATAAAATAAGGTGGAGTTTGAGGTTCACAGGAGCAAAATC
TATAATCTCAGAAATACAATTTTTGGTTTAAACTAGTTAGATGCCTTAAGGAAATTAAAAGTAATCATAT
ACTGGCATCAACTGGAAAGAAGGGCCTGTCCTATAATAAGATTTGTCTCTCAACAAGGGACCATTGTCAT
GCACTGAGCCAGGGCTGAGCTTATTGTATATAGGTGTGGAGAGGCGTCTGAGTCATAAAAATAACAATAG
TAATATCAGTTTATTATTATCTTAGCAACCAAGTAACTTTGCTTTAGCATCTTCAGGACAGAACTGGCAT
TCATTCATAAACACATACTGAGAAACTTAACAAGAGGTAACAGCTGTTGATTACCTGTTACTTATATCAC
ACCACTTAGTTCTCTCAACAACCCCATGAGGTAGGTATTATTTGCTCACTTTTATAGAGGGAGAAATGGA
AGCTCAGACAAGTTAACTAACTTGCCCATAGTCGCAAAGCTGGACTTGAAGACAGATTCATCTGACACCA
AAGCCTATGTCTTTGGCCATGAAACTGAATGATAGCTAACATTTATCGAACACGCTGTGTACCATGCATT
GTTCTAAGAGCTTTGTGTGTATTCCCTTATTTTAACCCTTTTAATAATGTGAGAGTTTAGAACTATTGTT
ATTCACATTTTATTGGATGAGAACACTGAGAGGTGGAGAGGTTAAGTATCTGCTCTTGGCTACACAGCTC
CTAACTGGCAGAGCACAAAGCTCCCATGAAGCTTTGCGGATCATGTAATCTGACCTTTTCATTTTATCAT
TGAAGAAATTGAGGGCCAGAGAAGGGAGACTGACTTTCCCAAGGTTATGTAGCTACTTAGTGTTAGATCT
GTAAGCCCAAATCCTAGGACTGTTTGTTCTCAGCCCATGGCCTTTTAGACCACATTTCGAGAGCTGCCAT
GTAACCAAATGTCTCCTTTGGTAGAATTCAGTTACTTAGACCTGATCAGGTTTTAGGTTTCTATGGGGAT
GCTAACTGTAGTTGCACCTCAAATGATTTACTAGCCTGGAAGGAAATTAAAATTATTTTTTTGCCATAGC
CCAATTCTGAACTGCATTTTCTTCCAGGAGAAGAAGGGGCTGCAACAGCCCGAGCCCCTAGGAATGCCCA
GGAAGCTGAGGTGAGCTCAACTTGCTTTGAGGATGAAGTTGGTGCATCTGCCTCACCTGCACTCCTCGCC
TTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGATGTTCATCAGCTCCTGGTAC
TCACGCAGGAGCCGAGCCATGTCCTGCTTGGCCTTCTGCAGGGCCTCCTCAAGGTCCACCAGCTTGGCCC
GTGCATCCTTGAGAGCCAGTTCTCCCCGCTGCTCTGCATCAGCAATGGCCGTTTGCAAGCTGGAACACTG
TAAGGACAGGAGGAAGCCATGAGTCCTGCTGACAGCCCATGGAGGTGTGGTGCTTCTTGGGGAGGAGTTC
TTAAAGATGGCAGAAAGGCCCAGAAGAAATGAGCATTTGAGGAGCTCTTGGCCCTGCCAAATCTTTACCT
GCTTCTTGACGCTGTCAATCTCAGCTCTCAGCCTCTGGATCATGCGGTTCATTTCAGAGATCTCTTGTTT
GGTGTTTCGAAGGTCATCCCCATGTCTGCCTGCGGTGACCTGCAGCTCCTCGTACTGAGAGAACCAGAGC
AAACCCAGTCACTGAGTCAAATGCCTGGCCCAGGCACTCGCTGTGCACACAGACCCACCCTGGGTGCCAC
AAGCAGGCTCATTCATTCCTGGTCATTCACTCATTCCCCCTGAAGCTTACAGTTTATTGGGGGACATAGA
CATTAACTGAATTAGCATATTATCAAATGTATAGTTCCACACTAAGATAAGTGCCCTTAGGAAATGAACA
GGGTCCTGGGAGAGTGTAATGAAGGAATCTGACCTAGATTTGGAAGTGGGAAGTGGTGGTCAGAGAAGTC
TCTCCAGAGATGGAGATGCTTGAACTGTGGTCTGAAGGATGAGAAGGAGGGACCTAAGTGACCAGTTGTG
GGGGAGAACATTCCAGACAAAGGAAACAGCCTGCATGAAGACTCTGGGTCAGGGAAGGAACATGGTGAGT
TCTAGGAGTGAGACGGTGATTTGATCAAGGTCCCTGGGTAGTTCCTGGTCACAGAGCGTGCATCCAGACC
AACTGTGCCCATGAATTTTGGTAGCCCTCCAAACACCAGTGCTGGGGAAACAGGGAGGAGATATGGGGGA
ATGGTGTGGGATGGTGCAGAGGCTGTGGAAGGCACAATTTTGAAGACTTTGTAAAAGTATTCCCAATCTC
AGGTAGTTCTCAATCTAATGGTGCATATCCAGGACATGTGAATTTAAGAGCAATAATTACACCCTGTCTC
CTCCAGCAGACTGAAGTGAAACCTACACCTTTCCCTGACAAAAGGAGATCCCCTGCCAGAGTCAAGATCT
GTGGGGTTCTTGAAAGTGCTGAATAGCTCAGGTTCCCGCTTCTAGGTATACATGATTAAATGGAGCAACA
ACCCAACAACATGAGGAATCGTTTGCTATCGATTTCAACCACTTCACCTTGGGGTTAAGTGCATCATGTT
TCCTTTCACCGTCAAGGCGCTGCCTCTGCCCTGTGGAACCCTGGTCCCTGCTACCCACCTTCCTTTCCAC
CACACTCCTGACCAGAAGGGATGAGGCAACGTATGGAGCAGGGAAAGAGTTGGAACCTGCTCGTAGGTGA
GAAGCTGCCCCAAGAGGGGTCTGGATTTGACAGGGAGCTGGTATCATGGGTCAATTGTACCCCGCAAAGC
CAAACTTCTTTGCGGCTGTCTGAGCTCTGGGCAGTAGCTGTTTGTGTTTATCCCAGCCTTCCTCTTCCTG
ACATAAACTCCCTTGCTTGTTCTTGCCTGCCAGCTCCTTGTTCAGCCTTAAACCTCTCCCCACTCCTCAG
CAATCTTTTGTCCCTCATGGCTTCCCAACTGTACAAAGCCCCCATGTCTTCCTGGAAGCTTTTTATTCAT
GCTATCTTTTCCCTTCCATGATTGTCCATTCACTTCATGGCCTCCCAGAGCTTGGGTTCTCTGTTTGCAG
TTTATTTATTTGCAACCCTGTAACCCTGATTGGCATACAGCAGGAGCTCAGAAAATATATAGAGAATAAA
TAAGCCTTTTAGAAACTGCTTCATGACTGTGTCTCGGTTGTCCTGGTGTCTCACCCTGCTCCCACCCAGA
TCTTGAGGAATGTGGGGCCAGTGGATGTCCTGAGCTCCCAGCATTGGGCTGACCATGTATTAGTGTGTCT
GGTTCGGTTTCCACATGCATTTCAAGCTAAGTTGTCATAGCATCAAAGACATGCCTGCTAAGTTGAAATA
AACGAATGTGCTCACACGTTTCCTGAGGCTGAGTTAAGTGATAATGTGGAGCCTCAGAGAACACTAACCC
TGGAACCTCTCATGGAGGTGTCCATGCTCACCTTGGTCTGGTACCAGGACTCAGCCTCGGCCCGGCTGCG
GTTGGCAATGTCCTCGTATTGTGCTTTGACCTCGGCGATGATACTATCCAGGTCCAGGTTGCGGTTGTTG
TCCATGGACAGCACCACGGATGTGTCACCGACCTGGGTCTGCAACTGGGACAGCTCCTGCAGGGCAGTAA
ACTCAGCATCACCAAGGCATAAGATGAAGAATCTTAAATCTTCGTGGTTAACTACCCATCTAGGTCAGGA
ATCCTTTCCTTGGTATTCCTGGCAGATTCTCCCAGCTATTCCCTAGGTATTCCCATTCATCCCAAAAGAT
CAGTGTGGTGAAAATCTTTCCCAGCCTTACTTCTCAAGGCTCCCATCTGTGTGCTTTCCCCAGGCATGAG
GGTGGGTAAGCATCCTCTGAATTGGAATTACATAGATTTGAATGTGACACGTGTCTGTTCAGTATGCCAA
CATAAACGGCTTCTTTAAGAGCATTGGGGACATCTGGGACACTGCTTCCCCCTGCACAGTGTGACTCCAT
CACTTTCTACCTCTCTCTCCCTTTCCACAGACCCAGGTCTCTGCCTTTGGAGGGGTAGCGCCCAGAATGA
GGCATCTTCAAAGGGTAGGAAGCCCCCTGACCAATGAGCTGAGGGACAGCTTGCCTTTTTTTTTTTTTAA
TACTTTTCAGGGAAGGGGAAGGGAGCAGGTATGTGTTGATTCCTTGGGAAATTACCCAGTGTCCTAGAAT
TTGGGAATCAGTACTCTCTCCTTGTTAGATGTTGTCCTGCCATGGGATAAGGGAGTTCGGGGGAGAAGCA
TCAGAGCTGGGGTAGTTTAGTATGACAAGGCTCCAAGTGGTTCTCCCTGGTCCCCCTACCACCCAAGCCC
CAGCTTGAAGTATCCAAGCAAGATGCTGGGCAGAGGCACTGAATGAATGAATGGCACAATGCATCATCCT
TTTCTTTCCAGGCTCCAGACCTAGGAGAGACAGAAATACTTGCAGACTCTTACTGCATCAAAGACTGAGT
GGATGAAGTTGATCTCCTCGGGCAGAGATTTGACCTTGGCTTCCAGCTCCACCTTGTTCATATAGGCAGC
ATCTACGTCCTGGAATGACAGCGCAGGATGCTCCTTTGAGTCTGCAGCCCCAAGTATCTAGTCCAAAAGA
AGCTGAGCAGATTTCTCCCCAGCCCATCTAGTTTGGATTTTAGAAAACTCTGGGTCTGGGTGATTTGGGG
TTGGGGATGGGTAATTACGGAGAACTGGGGGCTTGAATTCCCTGAGCTCACAGAAACCCAAGTAGGGCTA
ATGGGGCCATCAACGTAGAGGGAACATGTTGGGAGGTTTGAACTCTGCAGATATTCTCAAGGTTGATGTG
ACATTTCTTGGGTGGCCCAAGGGTCAGAGGTCAGGTTACCCCACACTCCAGATTCCATTTTAAACCTTCT
CCTTTGAGAGAAACATCCCCACTCACCTTTTTCAGGGCTACAAATTCATTCTCAGCAGCTGTGCGCTTGT
TAATTTCATCTTCGTACCTATAAGGACAGAGCGGGGGGTGTGCTGTTGAGCAAGTCTGCATTGAACTCTT
TCCAGGCTGGTGTAGCAAGAGTTAAGAGCCCTCAAATCATTTCCAGCTCTTCTGCTGACCTGGGCATGAC
TTTGGGTGATTCATTTAACCTCTATTTCTCCCTCCATAAAAGGGGGATAATTTCTTCTGCTAGTTTTTAA
TAAACTTTTCTAAGAGTAGAAGGTGAGCATGGAACTTAAAGGAATACAAAAATATACTTATGCAACTCCA
TCTTTTGATAGATATGCAATGCTAATCTAAAATGTTTTTCCACCTCAAGTGTCTACCGAAATCGTGGAGT
AAACTTTATCTGTTCAGCAGGCTGTTTCGGGTAGATTTTGATATATTTTCACTGAACCTCAGGGTGGCCC
CTGAGAAATATGCTTTTTGTAACTAGGGGTAGCTCAAGCTTAGAAATAAGGGCAAGCTGGCTAATGGGTT
AGTCTGGACCAAATCCCTTTCCACTGGATACCTCACCTACTGCAGCCTGGATGATGTGCAGTCAAAAGTT
TCCCCCCACAAGAAAAGTCAGATTGCCCTCCTTTAAACTCTTCCTTGTTACCTCTCTTCACTCTACAGTG
AATGCCATCCTGGAAATGCAAACCATCTCAATAATTGAGCCCATGTCCAATGGAATTAAACAATATGCTG
ACTGTGAAATTACATTATGATTTCTAGAGTGAGTAGCAATATTTTGTCGGATGATGTTGATATCCCTTTG
CAGTCATGTGAACAAATAGGAATAGGATCTTCATAGCAATACACAAGATGAAGGTCCTTGTGCTACCCCA
CACAGTGCTGTCTCCACCTTGCAGGATAAAGGCTGCAGTTCCAAAGCTCCCGGCTGATATCGGCATTTGC
TCCTTTGCACCTCTCTGGTCCTCACACAAAGGAGCCTTCAGATGGCTGTGTGTGGCCAGAAGCCAGTCTC
CCACTTACCTGACTTTGAAATCTTCCACAACATCCTGCATGTTCCTCAGTTCAGCTTCAAGCCTGCCCCT
CTCGGTGGTGATGCTTTCCAGCTGCCGTCGGAGCTCACTGGTATAGGAATCAAAGAGGGGCTCTAGGTTC
TGCCTCACAGTCCTGGAGCCCTGCTCCTGCAGGAGGGCCCACTTGGTCTCCAGGACCTTGTTCTGCTGCT
CCAAGAACCTCACCTGGAGGGAAGAAGAGAGAATGAAACCTTGAGAAGTTGGAGAGGCAGAGTTAGACAC
TCCTATTAATAAGGGAGAGAAGAAAAAGATATTTTTTTCACTTGGCACCCATTGACAATAATGTAACTGA
CAACTCCAACCCAAAAGGAGGCAGTCCATGGAGCTACCGCAAAGTTCCCTAGGGCTTGCATAGGATTCGG
GTGGTGGGGCCTAGAGGCTTCTGTTGGGGAGCTGCTCTTGGGTTAAGTTTCTCAACACCACCTACTCTGG
GTTAGGGTAGTTTGCTGAGCAGCAACTCTCCTGTAGAGAATCAACAAAACTCTTCCCTTGGTGTTGACTG
AACCAGCCCATGTGGCTCCGAAAGAGAGGAAATTTCTACCAGGTCCTGTGGGGCAAGCTGGCCTGACTTG
GAAGGGTCTCAGCCCCTGGGAGCCCGTGCTGAACAGTGCTCATTCCCACAGTGGGGTCATTGCATTATTG
CTCTCCCCCCATGGGATGGCCCTTCCAAGAGTTTATTTGATCCCAAACCCAAGGGGGTGGATGAAGCCCC
TGCTTACCTTGTCGATGAAGGAGGCGAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGCCCG
CACCCGCTGGATGGTGGGGTCGATTTGCAGGTGAAGAGGAGTCAGGAGACTCTGGTTGACAGTGACCTCT
TGGATGCCTCCAGGGGGACACACGGGGAAGCTGGGGCCACTGAAGCCTCCTCCAACTCCACCCCCATAGC
CAAATCCACTGTTGACTCCAAACCTGTTGCTGGCCCTGCCACCAAAGCCACTTCGGCAGCTGCTGCCACA
CCCATTGATGGAGACCCGCTTGGCACCCCCCAGGTTGTAGAGGCTGCGGCTTCCAAAGCTGGCCCCAGCA
CTGCTGATCCTTCCCAGGCCCCCACTCCCTGCTGCAGAGCGGGCCACAGAGACAGAGCTGAAGCGGGAGC
GGCCAGCTGCCGGGGTGATGGCCGAGGTGGTGCTGAAGCCCCTGCGGCTGCCAGACTGGAAGGTGATGGA
GGACTGCCGAGACATGGTGGGTGAGGAAGGCCGGCGAGAAGGCACCTGAGGTGGGCTGGTACAGGCAGTG
GAGAAGACAGGT