gene exon# exon sequence ABCC2 15 ACAAAGCCATGCAGTTTTCTGAGGCCTCCTTTACCTGGGAACATGATTCGGAAGCCACAGTCCGAGA ACADSB 3 TTAAAAAATTTGCTCAGGAACAAATTGCACCTTTGGTTTCAACCATGGATGAAAATTCGAAAATGGAGAAATCAGTAATACAAGGATTATTTCAACAAGGG ACADVL 11 GTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAG AGA 8 CTACCAAGCTGTAGAATACATGAGAAGAGGAGAAGATCCAACCATAGCTTGCCAAAAAGTGATTTCAAGAATCCAGAAGCATTTTCCAGAATTCTTTGGGGCTGTTATATGTGCCAATGTGACTGGAAGTTACG ALDH5A1 10 GTTCGATACAGAGGAGGAGGCTATAGCAATCGCTAACGCAGCTGATGTTGGGTTAGCAG AQP3 5 TTCATAGGCACAGCCTCCCTTATCGTGTGTGTGCTGGCCATTGTTGACCCCTACAACAACCCCGTCCCCCGAGGCCTGGAGGCCTTCACCGTGGGCCTGGTGGTCCTGGTCATTGGCACCTCCATGGGCTTCAACTCCGGCTATGCCGTCAACCCTGCCCGGGACTTTGGCCCCCGCCTTTTTACAGCCCTTGCGGGCTGGGGCTCTGCAGTCTTCAC ATM 31 GTATTGGACTTGTTGAAATACTTAGTGATAGATAACAAGGATAATGAAAACCTCTATATCACGATTAAGCTTTTAGATCCTTTTCCTGACCATGTTGTTTTTAAGGATTTGCGTATTACTCAGCAAAAAATCAAATACAGTAGAGGACCCTTTTCACTCTTGGAG ATP2C1 22 GTCTGCAATCGAAGAGGGTAAAGGGATTTATAATAACATTAAAAATTTCGTTAGATTCCAGCTGAGCAC ATP7A 21 AATGATCTTCTGGATGTAGTGGCAAGTATTGACTTATCAAGAGAGACAGTCAAGAGGATTCGGATAAATTTTGTCTTTGCTCTAATTTATAATCTGGTTGGAATTCCCATAGCTGCTG BSCL2 4 GTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAGTCCCCTGTGAATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGTGGCCGAATCATCTCCACTTCTTCGCGTTCG BTK 9 GCAGGAAGGCTACATTCCTAGTAACTATGTCACTGAAGCAGAAGACTCCATAGAAATGTATGA CFTR 13 AGCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTTTTAACAGAAAAAGAAATATTTGAAAG COLQ 16 GCTGTCACCGTGCCTACTGTGGAGATGGTCACCGGCATGAGGGTGTGGAGGACTGTGACGGCTCTGACTTTGGCTACCTGACATGCGAGACCTATCTCCCTGG CPO 4 ATCAGCCAACCATCTGGTAATCCCAAGAAAATCATTTGGATGGACTGTGGAATTCACGCCAGAGAATGGATTGCTCCTGCTTTTTGCCAATGGTTCGTCAAAGAA CYBA 4 GGGACAGAAGTACATGACCGCCGTGGTGAAGCTGTTCGGGCCCTTTACCAGGAATTACTATGTTCGGGCCGTCCTGCATCTCCT CYP17A1 7 CATCGGTGAGTTTGCTGTGGACAAGGGCACAGAAGTTATCATCAATCTGTGGGCGCTGCATCACAATGAGAAGGAGTGGCACCAGCCGGATCAGTTCATGCCTG CYP27A1 7 TCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAAC DES 3 GACGTGGATGCAGCTACTCTAGCTCGCATTGACCTGGAGCGCAGAATTGAATCTCTCAACGAGGAGATCGCGTTCCTTAAGAAAGTGCATGAAGAG DMD 68 GCTAATAATAAGCCAGAGATCGAAGCGGCCCTCTTCCTAGACTGGATGAGACTGGAACCCCAGTCCATGGTGTGGCTGCCCGTCCTGCACAGAGTGGCTGCTGCAGAAACTGCCAAGCATCAGGCCAAATGTAACATCTGCAAAGAGTGTCCAATCATTGGATTCAG DPYD 14 GACATTGTGACAAATGTTTCCCCCAGAATCATCCGGGGAACCACCTCTGGCCCCATGTATGGCCCTGGACAAAGCTCCTTTCTGAATATTGAGCTCATCAGTGAGAAAACGGCTGCATATTGGTGTCAAAGTGTCACTGAACTAAAGGCTGACTTTCCAGACAAC ENAM 7 GCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAG ENG 3 GGCCCGTCACAGCTGGAGCTGACTCTCCAGGCATCCAAGCAAAATGGCACCTGGCCCCGAGAGGTGCTTCTGGTCCTCAGTGTAAACAGCAGTGTCTTCCTGCATCTCCAGGCCCTGGGAATCCCACTGCACTTGGCCTAC EXT2 9 AGCATCTGTGGTTGTACCAGAAGAAAAGATGTCAGATGTGTACAGTATTTTGCAGAGCATCCCCCAAAGACAGATTGAAGAAATGCAGAGACAG F7 3 TCTTCGTAACCCAGGAGGAAGCCCACGGCGTCCTGCACCGGCGCCGGCGCGCCAACGCGTTCCTGGAGGAGCTGCGGCCGGGCTCCCTGGAGAGGGAGTGCAAGGAGGAGCAGTGCTCCTTCGAGGAGGCCCGGGAGATCTTCAAGGACGCGGAGAGGACG F7 5 ATGGGGACCAGTGTGCCTCAAGTCCATGCCAGAATGGGGGCTCCTGCAAGGACCAGCTCCAGTCCTATATCTGCTTCTGCCTCCCTGCCTTCGAGGGCCGGAACTGTGAGACGC F7 7 TTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAG F7 8 GTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGG FANCB 7 AAGGAATGTCTTGTTCCTCTTTGTGGTGAAGAAGAAAATTCTGTCCATATCTTAGATGAAAAGTTATCAGACAATTTTCAAGATTCAGAACAGCTAGTAGAGAAGATATGGTATCGTGTAATAGATGATAGCTTGGTTGTTGGAGTGAAAACTACATCTTCTTTGAAGCT FANCC 5 GGTGTATTATCTCATATACTTTCAGCACTCAGATTTGATAAAGAAGTTGCTCTTTTCACTCAAGGTCTTGGGTATGCACCTATAGATTACTATCCTGGTTTGCTTAAAAAT FECH 3 GAAGCCGAAAACTGGAATATTAATGCTAAACATGGGAGGCCCTGAAACTCTTGGAGATGTTCACGACTTCCTTCTGAGACTCTTCTTGGACCGAGACCTCATGACACTTCCTATTCAGAA FGG 3 GGTAGTTATTGTCCAACTACCTGTGGCATTGCAGATTTCCTGTCTACTTATCAAACCAAAGTAGACAAGGATCTACAGTCTTTGGAAGACATCTTACATCAAGTTGAAAACAAAACATCAGAAGTCAAACAGCTGATAAAAGCAATCCAACTCACTTATAATCCTGATGAATCATCAAAACCAA GCH1 5 TTCAGGAGCGCCTTACAAAACAAATTGCTGTAGCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC GHR 9 GATTAAAATGCTGATTCTGCCCCCAGTTCCAGTTCCAAAGATTAAAGGAATCGATCCAGATCTCCTCAAG HADHA 3 CCAGAACCCATATTAACTATGGAGTCAAAGGGGATGTGGCAGTTGTTCGAATTAACTCTCCCAATTCAAAG HSPG2 64 ACCCGCGGCTCACGGCTGCGGCTGCACCATGTGTCCCCGGCCGACTCGGGTGAATACGTGTGCCGGGTGATGGGCAGCTCTGGCCCCCTGGAGGCCTCAGTCCTGGTCACCATCGAAGCCTCTGGCTCAAGTGCTGTCCACGTCCCCG IKBKAP 20 ATGCCAAGGGGAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATTCGGAAGTGGTTGGACAA ITGB3 2 GGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGATGAG LAMA2 26 TTGATGGCCTATGGGGGCAAACTCAAGTATGCAATCTATTTCGAGGCTCGGGAAGAAACAGGTTTCTCTACATATAATCCTCAAGTGATCATTCGAGGTGGGACACCTACTCATGCTAGAATTATCGTCAGGCATATGGCTGCTCCTCTGATTGGCCAATTGACAAGGCATGAAATTGAAATGACAGAG LEPR 18 ATGATATTGAAAAACACCAGAGTGATGCAGGTTTATATGTAATTGTGCCAGTAATTATTTCCTCTTCCATCTTATTGCTTGGAACATTATTAATATCACACCAAAG MOCS1 2 GTCAGTACTGCATGCCCGAGGAGGGGGTCCCGCTGACCCCCAAAGCCAACCTGCTGACCACAGAGGAGATCCTGACCCTCGCCCGGCTCTTTGTGAAGGAAGGCATCGACAAGATCCGGCTCACAGGTGGAGAGCCGCTTATCCGGCCGGACGTGGTGGACATTGTGG MOCS1 8 GTCTGCCTCTTTGGAAACTCTGAGGTATCCCTGCGGGATCACCTGCGAGCTGGGGCCTCTGAGCAGGAGCTGCTGAGAATCATTGGGGCTGCTGTGGGCAGGAAGAAGCGGCAGCATGCAG MTMR2 15 TTTCCTACCGCATTTGAATTCAATGAGTATTTTCTCATTACCATTTTGGACCACCTATACAGCTGCTTATTCGGAACATTCCTCTGTAATAGTGAACAACAGAGAGGAAAAGAG MYBPC3 7 AGGCCATGGGCACCGGAGACCTGGACCTCCTATCAGCCTTCCGCCGCAC MYH11 33 TTGTTAGCCGAGGAGAAAAACATCTCTTCCAAATACGCGGATGAGAGGGACAGAGCTGAGGCAGAAGCCAGGGAGAAGGAAACCAAGGCCCTGTCCCTGGCTCGGGCCCTTGAAGAGGCCTTGGAAGCCAAAGAGGAACTCGAGCGGACCAACAAAATGCTCAAAGCCGAAATGGAAGACCTGGTCAGCTCCAAGGATGACGTGGGCAAGAAC NEU1 5 CCCTATGAGCTCCCAGATGGCTCAGTCGTCATCAATGCCCGAAACCAGAACAACTACCACTGCCACTGCCGAATTGTCCTCCGCAGCTATGATGCCTGTGATACACTAAGGCCCCGTGATGTGACCTTCGACCCTGAGCTCGTGGACCCTGTGGTAGCTGCAGGAGCTGTAGTCACCAGCTCCGGCATTGTCTTCTTCTCCAACCCAGCACATCCAGAGTTCC PAH 12 GAACTTTGCTGCCACAATACCTCGGCCCTTCTCAGTTCGCTACGACCCATACACCCAAAGGATTGAGGTCTTGGACAATACCCAGCAGCTTAAGATTTTGGCTGATTCCATTAACA PAX6 4 AGCCCCATATTCGAGCCCCGTGGAATCCCGCGGCCCCCAGCCAGAGCCAGCATGCAGAACA PCCA 13 GTTGAGCATCCTGTCACAGAATGCATTACTGGCCTGGACCTAGTCCAGGAAATGATCCGTGTTGCTAAGGGCTACCCTCTCAGGCACAAACAAGCTGATATTCGCATCAACGGCTGGGCAGTTGAATGTCGGGTTTATGCTGAG PEX10 3 GCTACCAGACCCTGGGGGAGGAGTACGTCAGCATCATCCAGGTGGACCCATCGCGGATACATGTGCCCTCCTCGCTGCGCCGTGGCGTGCTGGTGACACTGCATGCCGTCCTGCCCTACCTGCTGGACAAGGCCCTGCTCCCCCTGGAGCAGGAGCTGCAGGCTGACCCCGACAGTGGGCGACCCTTGCAGGGGAGCCTGGGGCCAGGTGGGCGTGGCTGCTCAGGGGCGCGGCGCTGGATGCGTCACCACACGGCCACCCTGACTGAGCAGCAGAGGAGGGCGCTGCTGCGGGCGGTCTTCGTCCTCAGACAGGGCCTCGCCTGCCTCCAGCGGCTACATGTTGCCTGGTTTTACATCCACGGTGTCTTCTACCACCTGGCCAAGAGGCTCACGGGGATCACGTAC PEX16 10 GGCCAGGATCCTCTTCCTGCTCCAGTTGCTGGCCGACCACGTCCCTGGCGTTGGCCTGGTCACAA PFKM 3 GGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTG PHKA1 31 ATGACTCCAGGTGAGATTAAATTCTCTGTTCATGTGGAGTCTGTCCTGAATCGTGTACCTCAGCCAGAGTACCGTCAGCTGCTGGTTGAAGCCATCCTTGTCCTCACCATGCTGGCAGATATTGAAATTCATAGCATCGGAAGCATCATTGCTGTGGAAAAAATAGTGCATATTGCCAATGACTTGTTCCTTCAAGAACAG PHKA2 26 GAGAAGAGGCTTCTGAAAGTTTGATGAACCTCAGCCCTTTCGATATGAAAAATCTCCTGCACCATATTCTAAGTGGGAAAGAGTTTGGCGTTGAAAGAAGTG PKD1 44 GCTGCCCAGCAGCTACGCTTCGTGCGCCAGTGGTCCGTCTTTGGCAAGACATTATGCCGAGCTCTGCCAGAGCTCCTGGGGGTCACCTTGGGCCTGGTGGTGCTCGGGGTAGCCTACGCCCAGCTGGCCATCCTG PLP1 6 TTCCAAATGACCTTCCACCTGTTTATTGCTGCATTTGTGGGGGCTGCAGCTACACTGGTTTCCCTG PRKAR1A 7 GTCTATGTTAACAATGAATGGGCAACCAGTGTTGGGGAAGGAGGGAGCTTTGGAGAACTTGCTTTGATTTATGGAACACCGAGAGCAGCCACTGTCAAAGCAAAGACAAATGTGAAATTGTGGGGCATCGACCGAGACAGCTATAGAAGAATCCTCATG PTGIS 9 GTATTTAAATACAACCGATTCCTGAACCCTGACGGATCAGAGAAGAAAGACTTTTACAAGGATGGGAAACGGCTGAAGAATTACAACATGCCCTGGGGGGCGGGGCACAATCACTGCCTGGGGAGGAGTTATGCGGTCAACAGCATCAAACA PTH 2 TGAAGATGATACCTGCAAAAGACATGGCTAAAGTTATGATTGTCATGTTGGCAATTTGTTTTCTTACAAAATCGGATGGGAAATCTGTTAA RB1 6 GATATCTACTGAAATAAATTCTGCATTGGTGCTAAAAGTTTCTTGGATCACATTTTTATTAGCTAAAG RHAG 7 CCACTTTTTACTACTAAACTGAGGATCCATGATACATGTGGGGTCCATAACCTCCACGGCTTACCTGGTGTAGTGGGAGGCCTTGCAGGCATTGTGGCAGTAGCAATGGGCGCCTCCAACAC SDHC 5 GGGTCTCTCTTTTTGGCATGTCGGCCCTGTTACTCCCTGGGAACTTTGAGTCTTATTTGGAACTTGTGAAGTCCCTGTGTCTGGGGCCAGCACTGATCCACACAGCTAAGTTTGCACTTGTCTTCCCTCTCATGTATCATACCTGGAATGGGATCCGACACTTG SERPINA7 3 ATGGGTTGACTTGTTTGTTCCAAAGTTTTCCATTTCTGCCACATATGACCTTGGAGCCACACTTTTGAAGATGGGCATTCAGCATGCCTATTCTGAAAATGCTGATTTTTCTGGACTCACAGAGGACAATGGTCTGAAACTTTCCAAT SLC25A13 11 CTGTTGGAGCCACTGCTGTGTATCCTATCGATCTTGTAAAAACTCGAATGCAGAACCAACGATCAACTGGCTCTTTTGTGGGAGAACTCATGTATAAAAACAGCTTTGACTGTTTTAAGAAAGTGCTACGCTATGAAGGCTTCTTTGGACTGTATAGAG SMARCB1 7 CTGAACATCCATGTGGGAAACATTTCCCTGGTGGACCAGTTTGAGTGGGACATGTCAGAGAAGGAGAACTCACCAGAGAAGTTTGCCCTGAAGCTGTGCTCGGAGCTGGGGTTGGGCGGGGAGTTTGTCACCACCATCGCATACAGCATCCGGGGACAGCTGAGCTGGCATCAGAAGACCTACGCCTTCAG TSHB 2 CATGACTGCTCTCTTTCTGATGTCCATGCTTTTTGGCCTTACATGTGGGCAAGCGATGTCTTTTTGTATTCCAACTGAGTATACAATGCACATCGAAAGGAGAGAGTGTGCTTATTGCCTAACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGG USH1C 12 GGCCGGGAGCTGTTCATGACAGACCGGGAGCGGCTGGCAGAGGCGCGGCAGCGTGAGCTGCAGCGGCAGGAGCTTCTCATGCAGAAGCGGCTGGCGATGGAGTCCAACAAGATCCTCCAGGAGCAGCAGGAGATGGAGCGGCA WRN 30 ATTGTGTTATATGGCAAATTGGTAGAAGCTAGGCAGAAACATGCCAATAAAATGGATGTTCCCCCAGCTATTCTGGCAACAAACAAGATACTGGTGGATATGGCCAAAATGAG