gene exon# exon sequence ABCC8 35 GGCACATCATCATTGATGGCATTGACATCGCCAAACTGCCGCTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTCCTCTTCAGCGGCACCATCCG ACY1 6 GTACCTGGAAGCTGTGAGGAGGCTGAAGGTGGAGGGCCACCGGTTCCCCAGAACCATCCACATGACCTTTGTGCCTG ADA 4 GGGCTGCCGGGAGGCTATCAAAAGGATCGCCTATGAGTTTGTAGAGATGAAGGCCAAAGAGGGCGTGGTGTATGTGGAGGTGCGGTACAGTCCGCACCTGCTGGCCAACTCCAAAGTGGAGCCAATCCCCTGGAACCAGGCTGA AGL 5 GCTACAACATGATTCATTTTACCCCATTGCAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTG ALDH3A2 5 ACGCATAACCTGGGGAAAATACATGAATTGTGGCCAAACCTGCATTGCACCCGACTATATTCTCTGTGAAGCATCCCTCCAAAATCAAATTGTATGGAAGATTAAGGAAACAGTGAAG AMN 4 CTCCTGCCGCTGGATGGGGAACTCGTCCTGGCTTCAGGAGCCGGATTCGGCGTCTCAGACGTGGGCTCGCACCTGGACTGTGGCGCGG ATP7B 5 ATCACAGGGATGACCTGCGCGTCCTGTGTCCACAACATAGAGTCCAAACTCACGAGGACAAATGGCATCACTTATGCCTCCGTTGCCCTTGCCACCAGCAAAGCCCTTGTTAAGTTTGACCCGGAAATTATCGGTCCACGGGATATTATCAAAATTATTGAG CASR 3 GTATAATTTCCGTGGGTTTCGCTGGTTACAGGCTATGATATTTGCCATAGAGGAGATAAACAGCAGCCCAGCCCTTCTTCCCAACTTGACGCTGGGATACAGGATATTTGACACTTGCAACACCGTTTCTAAGGCCTTGGAAGCCACCCTGAGTTTTGTTGCTCAAAACAAAATTGATTCTTTGAACCTTGATGAGTTCTGCAACTGCTCAGAGCACATTCCCTCTACGATTGCTGTGGTGGGAGCAACTGGCTCAGGCGTCTCCACGGCAGTGGCAAATCTGCTGGGGCTCTTCTACATTCCCCAG CBS 14 GTGGTGGCACCTCCGTGTTCAGGAGCTGGGCCTGTCAGCCCCGCTGACCGTGCTCCCGACCATCACCTGTGGGCACACCATCGAGATCCTCCGGGAGAAGGGCTTCGACCAGGCGCCCGTGGTGGATGAGGCGGG CFI 5 ATTCTCCAATGGATGACTTCTTTCAGTGTGTGAATGGGAAATACATTTCTCAGATGAAAGCCTGTGATGGTATCAATGATTGTGGAGACCAAAGTGATGAACTGTGTTGTAAAG CREBBP 22 TTTCGTTGATTGCAAGGAGTGTGGCCGGAAGATGCATCAGATTTGCGTTCTGCACTATGACATCATTTGGCCTTCAGG CUL4B 7 ATCATGATCAGGAGCATTTTTTTGTTTCTGGATAGAACTTACGTTCTTCAGAATTCAATGCTACCCTCCATTTG CYB5R3 6 GGAAGTTCGCCATCCGACCTGACAAAAAGTCCAACCCTATCATCAGGACAGTGAAGTCTGTGGGCATGATCGCGGGAGGGACAG DES 3 GACGTGGATGCAGCTACTCTAGCTCGCATTGACCTGGAGCGCAGAATTGAATCTCTCAACGAGGAGATCGCGTTCCTTAAGAAAGTGCATGAAGAG DMD 3 TTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTG DSG1 3 GTAAGAGATTATAACACTAAAAATGGCACCATCAAATGGCATTCAATCCGAAGGCAGAAACGTGAATGGATCAAGTTCGCAGCAGCCTGTCGTGAAGGTGAAGACAACTCAAAGAGGAACCCAATCGCCAAA EXT1 8 GTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCCGTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAG F8 25 GTGAATAATCCAAAAGAGTGGCTGCAAGTGGACTTCCAGAAGACAATGAAAGTCACAGGAGTAACTACTCAGGGAGTAAAATCTCTGCTTACCAGCATGTATGTGAAGGAGTTCCTCATCTCCAGCAGTCAAGATGGCCATCAGTGGACTCTCTTTTTTCAGAATGGCAAAGTAAAG GBE1 7 CCGTTATGGAACACCTGAAGAGCTACAAGAACTGGTAGACACAGCTCATTCCATGGGTATCATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAAAAAATTCAGCAGATGGATTGAATATGTTTGATGGGACAGATTCCTGTTATTTTCATTCTGGACCTAGAGGGACTCATGATCTTTGGGATAGCAGATTGTTTGCCTACTCCAG GNRHR 2 TTATACATCTTCAGGATGATTCATCTAGCAGACAGCTCTGGACAGACAAAAGTTTTCTCTCAATGTGTAACACACTGCAGTTTTTCACAATGGTGGCATCAAGCATTTTATAACTTTTTCACCTTCAGCTGCCTCTTCATCATCCCTCTTTTCATCATGCTGATCTGCAATGCAAAAATCATCTTCACCCTGACACGGGTCCTTCATCAGGACCCCCACG HMBS 2 GAAGAAAACAGCCCAAAGATGAGAGTGATTCGCGTGGGTACCCGCAAGAGCCAG HMBS 11 GGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTG IKBKG 9 GATCGAGGACATGAGGAAGCGGCATGTCGAGGTCTCCCAGGCCCCCTTGCCCCCCGCCCCTG ITGA2B 26 GTGGACTGGGGGCTGCCCATCCCCAGCCCCTCCCCCATTCACCCGGCCCATCACAAGCGGGATCGCAGACAGATCTTCCTGCCAGAGCCCGAGCAGCCCTCGAGGCTTCAGGATCCAGTTCTCGTA LAMC2 4 AGACTCCAAGTGTGACTGTGACCCAGCTGGCATCGCAGGGCCCTGTGACGCGGGCCGCTGTGTCTGCAAGCCAGCTGTCACTGGAGAACGCTGTGATAG LAMC2 9 GTACTGGGTACATTGACAATGTGACCCTGATTTCAGCCCGCCCTGTCTCTGGAGCCCCAGCACCCTGGGTTGAACAGTGTATATGTCCTGTTGGGTACAAGGGGCAATTCTGCCAGGATTGTGCTTCTGGCTACAAGAGAGATTCAGCGAGACTGGGGCCTTTTGGCACCTGTATTCCTTGTAACTGTCAAGGGGGAGGGGCCTGTGATCCAGACACAG LAMA2 32 GTGTGCCCCTGGCTATACTGGCAGTCCAGGCAACCCTGGAGGCTCCTGCCAAGAATGTGAGTGTGATCCCTATGGCTCACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTGCACGTGCCGACCTGGAGCCACGGGAAGGAAGTGTGACGGCTGCAAGCACTGGCATGCACGCGAGGGCTGGGAGTGTGTTT MCOLN1 4 TACCTGGCGTTGCCTGACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGTGGTTACTG MLH1 6 GTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAG MTTP 10 AGTAAGTTCAAAGGTTCTATTGGTAGCAGTGACATCAGAGAAACTGTTATGATCATCACTGGGACACTTGTCAGAAAGTTGTGTCAGAATGAAGGCTGCAAACTCAAA NT5C3 9 GGGGTGCTCAAAGGATTTAAAGGAGAACTAATTCATGTATTTAACAAACATGATGGTGCCTTGAGGAATACAGAATATTTCAATCAACTAAAAGACAATAGTAACATAATTCTTCTGGGAGACTCCCAAGGAGACTTAAGAATGGCAGATGGAGTGGCCAATGTTGAGCACATTCTGAAAATTGGATATCTAAATGATAGA PEX3 11 TCTTTCCAGTGTCAGCCTGCCTTTAGCTAAGATAATTCCAATAGTAAACGGACAGATCCATTCAGTTTGCAGTGAAACACCTAGTCATTTTGTTCAG PHYH 2 GTATACTCTGGATAATAACGTTCTAACCCTGGAACAGAGAAAATTTTATGAAGAAAATGGGTTTCTAGTAATCAAAAATCTTGTACCTGATGCCGATATTCAACGCTTTCG PNPO 4 GACTCTAATCCCTTTGCTTCCCTTGTCTTCTACTGGGAGCCACTTAACCGTCAG PSEN1 9 CAACAATGGTGTGGTTGGTGAATATGGCAGAAGGAGACCCGGAAGCTCAAAGGAGAGTATCCAAAAATTCCAAGTATAATGCAGAAA PTEN 4 TTGTGCTGAAAGACATTATGACACCGCCAAATTTAATTGCAGAG RHAG 7 CCACTTTTTACTACTAAACTGAGGATCCATGATACATGTGGGGTCCATAACCTCCACGGCTTACCTGGTGTAGTGGGAGGCCTTGCAGGCATTGTGGCAGTAGCAATGGGCGCCTCCAACAC SPTA1 18 GAAAGGACCTGATTGCTTCCAAAAAGCTTCTGAATAGGCATAGAGTCATCCTGGAGAACATTGCCAGCCATGAACCACGCATTCAAGAGATAACAGAAAGGGGAAACAAAATGGTAGAGGAAG TG 4 GTCTGTCATTTTGTCAGCTACAGAAACAGCAGATCTTACTGAGTGGCTACATTAACAGCACAGACACCTCCTACCTCCCTCAGTGTCAGGATTCAGGGGACTACGCGCCTGTTCAGTGTGATGTGCAGCAGGTCCAGTGCTGGTGTGTGGACGCAGAGGGGATGGAGGTGTATGGGACCCGCCAGCTGGGGAGGCCAAAGCGAT TG 35 TTGCTCAAAATAATGCTCCCAGTTTTTGCCCTTTGGTTGTTCTGCCTTCCCTCACAGAGAAAG WRN 26 GGTAGAAATTGGCTTCATAAAGCTAATACAGAATCTCAGAGCCTCATCCTTCAAGCTAATGAAGAATTGTGTCCAAAGAAGTTGCTTCTGCCTAG XPC 4 AACTTAGTGAGCCTGTGCTGGGTGACGTGAGAGAAAGTACAGCCTTCTCTCGATCTCTTCTGCCTGTGAAGCCAGTGGAGATAGAGATTGAAACGCCAGAGCAGGCGAAGACAAGAGAAAGAAG