DDX39A (DExD-box helicase 39A)

Highlighted bases are known variants (red = pathogenic). Hover or tap one for details.

TAGATGGGGTGGGAGCCAGGCTTCCATAATAACAAGTTTATTCTCATACAATCTCTAGCTTCTCAACAGT
GGCGCCTGGAAAGGGGAGGTGAAGCTGCATGCGGGCGGCTCCGGGTGGGCGGCTCTGGCACGTGGTGGTT
ACCGGCTCTGCTCGACTGTAAGACATGAGATGCAGTGAACTGAAGGGCCGGGGGAGGAACCCTCTGCCCC
AGACCCCTGGCCCTGCCCAAGGCACTTACTGTATGTGGAGATGTCGATTTCCTCTGGAAGTTCTGCCACA
TTAACTTCAAACCGGTCCTGGACGTCATTGAGGATTTTGGCATCATTCTCGTCAGACACAAAAGTGATGG
CTAGGCCTTTGGTGCCAAAGCGACCCGCCCGGGCCACCTGCAGGCAGACAGGATCAGGGTCAGGCCACAG
ATACTACCTCAGGACTTGAGGAAAAGCAGGGCTGGGGCCCCACCCCACCGCCAGGGGAAAGCAACATGCC
CGTGAGGCTGCTCACCCGGTGCAGGTAGGTGTCCGAGTCCTCAGGCATGTCGTAGTTAAAGACGATGTTG
ACTCGCTCGATGTCCATCCCCCGGCCAAACAGATTGGTGGCCACCAGGATCCGCCGCTGGAAATCCTTGA
ACTGCTGATAGCGTGACAGGCTGGGGTGCAGGAGAAACAAGTGGAGGCCGTCAGACACTGGGCTCCTGGT
GGTGCTCCCTGCAGCCTTGGCGGGCGGCTCGCACTCACCGCTCCTCCTGGGCCATGCCCCGGTGGATGGC
GATGGCCGGGAAGTTCTGCTCCACGAGGAGCTGGGCCAGGGCCATGCAGCGCTGCACTGACTTGACGAAG
ATTATCACCTGAGGGAAGGAGTGGCAGTCAGGGCCACACAGTCCCTGTGGCCCAGTGACCTCCCGAAGGT
CCTGAGCCCCAGGACAGGCTGATGGAAGTATCACCTGGTTAAACTCCAGCACATCCAAGAGATCAAAGAG
CTTGCGGTTCTTCTCACTGTCTTTGAGTTTGACGTAGTACTGCTGCAGGCCGTGCAGCGTGAGCTTGGTC
TCGTCGTCCACAAACACCTCCATGGGCTGTGTGGGAAGGGAGGTGGGAGGGGCGGGCAGGGATCACCTCT
GGGCATCTCGCCTGCCCAGAACCTTCCAGTGGGCGACTCCTTTGTGCGACACTTCCCAGAGGACCTGCTG
CACCAGACCTCAGTAAACATCGCTCAAAAGCTGGATGTAAGCTCTGGCCCGACTCAGGTGTGGACCAAGC
TTGACTCCCAGTTTGACAAGACCGAGGGGAGGAAAGGAGGCTCCGCCGGCTCCCAGCATCCCAGCATCCT
CCGTGCCATGTGGGCCGTGCGGGTGTCCTGGGGCCCCAGGCTCCAGGCCCCTGGGGAAGGCCAAAGCTGC
CACTCTCGCCCTACTCACATCCTGCATGAACTTCCTGCACACAGGCCGGATGTCCTTGCTCAGGGTGGCG
CTGAACATCATGCACTGCTTCTCGTGTGGTGTCAGGCGGAAGATCTCCTGCACATCCCGCCGCATGTCTA
GGTGGGGAGGGCAAGACATGGGTGGGCATGAGCGTCTGCCATGCAGGACCCCCACCCCAGACCAGACCCA
GACCCCTCCCAACCTGTGCCAGGGAGCCAGTGGCACCGTGACGAGGGCAGAGTGAGCCGCGGGAGTGGCC
AGTCCTGGTGCCTGAGGGGCTGGGGGGTGGCCAGCGAGCGCAGGCGCGGGAGGAGCTGCAATCCACTTAC
ACGCTGGCGCGGAGCAGCCGTGCCCGTGCGCCTCGAGCCACGCTTCAGGGAGGGGAGCCTGAGGCAGAGA
CAGCCGCTGGGGTGAGAGCTGCAGCTGCCTCCCAGGACACAAGCCCATCTCCCACCGGCCCTGTCGGGGC
TCACTGAGGGCAGGCGGGGCCTGGAACCAACCCAACAGGTGGCAGAAGCCTCATACTCCCAGAGGTATGT
GTGCATGCCTTTACGTCCAGGAGGGACGGGGGCTTGCTTGGGCCCCGTGGTCCCATTCGGCTCGGGCTCA
GAAACAGCACATCCCTCTGCCAGCAGCAGAGCTTTCCCCAAGATCACCACAGGAGCCCCGCCTGCCGGCC
GCCCATGTAACCCACTCAAGAGCCTTCCGCCTGCTATGGGGCCCGCCTAGTCACTGACTCTCAGCTGGGG
CTGCAAGGGCAGAGGACTCACCCAGCTGCTCCAGCATCTTGTCACACTCGTCCAGCACAAAGTGCTTCAC
ATTCTTTAGGCTGAAGCTCCTATTCCGCACGAGCGCCAGGATGCGGCCCGGGGTCCCCACCACGACATGG
GGACAGTTCTTCTTCAACACTTCTTCATCCTTCTTGATGGAGAGACCACCGAAGAACACAGACACCTATG
GGGATGAGGAGGAAACCGCTCCATGCTGATACACGGCCCAAGGCCCCAACCTGCACGGCCCAGCACCTGC
GAACAGGAGGCCTCAGGGGACCAAGGCAGGCCTGAGAGCCTCCCGGGGCTCCACTCAAAGGCAGCCCCAG
GCTGGGACCTGCGCAGGCCCCTGGGAGCCATGCATAATTCATCAGGCTTTTAAGGAGCAAAAACCACCGC
AAACCTCAAAGGCAGCTGCCCCTGCCAAGCTTGGTAAATGCTGGCTGGGCCAGAGCCGAGGCTAACAAAG
CTGCAGAAACCAAGTGGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTG
GAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCA
CCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCCTAAACCCCTTCCCCACCAGAGTCCA
CCCAACCCAGTCCCCCTGACACTGCACCCAACATCACAGGCCATTTGAAGGCCCGGTCCAAATGCCTCCC
ACTTCTCACGGCCCTTCCCCACCCCTCACTCCCTATACCCTCCCACAGCTATTGAAACCTGTCTCCCAAC
ACCAGGACCCACAATAAGAAACAGAAAATGGAACAGAAAATGGCCCGCATAATGTAATGGTTAGACCTGG
CCTGCCTGGGTGACATGGGACCTGGCTCTCTAAGGATTTCCTGAATCTCGGCACTCGGGCGGCCCCGGTC
TTCCCACCCGTGCCATCAGACACTGGACCACACCACAGCCCTCCACAGCACCTTCATCCTTCAGGATGTG
CTCTGAGATAACGAGGGCACGGGCGCCAATATGAAGCCCAAAGATGTGCACCTGGCCTGACTCGGGAGCA
AGACACCAGAATTCACTGAAGTGTCTCCCCAGGACAGTGGCACACAAGACAATGGGAGAAGACAGCCAGG
GCCTAACAGCAAGGACAGTGGTGACAGCTATATTCGGGGCAACCCAACCTTCACAGATGGACACTCTCTA
GGTAAGTGGCACGGCAAAACAGCAACGATGCCTCTGGGGCAAGGGGCAAACTGTGGGCACTTTCCAGTTA
TTTTGGCTTATTGGCAATTTCTAATTTTTGTTATAACTAATTATTTTTTGAGATGGAGTCTACCTCTGCC
ACCCAGGCTGGAGTGCAGTGGTGTGATCATAGCACACTGCAGCCTCGACTTCCTGGGCTCAAGCAATCCT
CCAGCCTCAGCTTCCCAAAGCACTGGGCTAACAGGTGTGAGCCACCCCATCCAGCCTACTCTACTTCCGC
CGCCACAGGCAGGGTGGGGCCAGGAAGGGAGGAGCCCACCCACCTGTCCGTTGACAGGCTCAATCTGCTG
TAGGGTGGCCAGCACGAAGACCGCTGTCTTGCCCATCCCGGACTTGGCCTGGCACAGGACGTCCATGCCC
AGGATGGCCTGGGGAATGCACTCATGCTGGACTGCAGGAGAAGCAGAGCGTGAGGGACGAGAACCTGGAT
GCACCCCCGTGCAGGATCCTCACCAGTTGACCGGGGGCCCACAGTGAGGGCAATCAGAAGAGGCCGAGTC
CGGACAAGGCCACAGACACCTGCAGGGCTGGGGTATCCGCCTGGTCAAAGCAGAACGCCCCACTGCCGAG
GGCAGCCACAGGCCCCGCTGGGCACAACTGATCCGCGGGACAGACGGGCCCCTCCCTCACCCACGGCAAA
CTGGAGGCGGCACCGCTCTGGGCGGGCAGGGCTGGTCTTGTCTTGGTGAGGACCTGGGCAAGAGGATAAC
ACCCAGAAGGCGTACCCTCAGAAGGATGCTCAAAGCCACAGTCCACGATGGCCCGCAGGAGCTCCGGCTT
CAGCAGAAAGTCCCGGAAGCCAGAGCTGTGGATGGAAACGTAGGATCCCTTGATGTCTTTCTTAGGGGGA
GCTGGTGTGCTCTCTTGAGGAGCCTGGGGCTCTTCCTCTTCATCGTAATCCAAAAGATCGTTTTCCACAT
CCTGTTCTGCCATGATGCTGAGAAGAGAGAGAGGCAGGGTCCCGCGAGTGGGCACAGAAGGATGATGAAG
CTTCATTCAAATGGCATTCTCTGCCGCCTCCTTCCATGAGTGAGCCCATCAGCTCTACCTGGGCTGCACC
TCGCAGCTTCGCCCTGTCTCCACCTCCCCACCCCCAAGCTACCCCATCTCTCCCCCATGCCCCTCTGGCC
ACACCCACAGACAGAACACCCTCCACCTCCAAGGGCTTCCCATGGCTCACAGAGTTAAAATCCCAACTCT
CACCACAGGCCAGGCAATCCCCTTGGTTTGACCCCTGCTCACCTCATCCCACACCACCCCCAGCCTTGTT
CAGCTGCTCAGACCCCTGGAGCCCCTGCCCCAAGCCTTTGAACCTGGCTGTCACCGCCAGGAATGCTCTG
CCCCCAGGTCTCTGCACAAATGCCTCCTTCTCCACACGCAAGCCTCAGCTCCAGTGAACCTCCTCAGACT
ACTCAGCCCAGAGAAGCCCCCTCCCTATCACTCCCCAAGGAACCCACTGGGCTTTCATGGGGCAGGAGCC
CAAAGATCCCAGGGGTGGGGCTGCCAGGATGCTGGTGGGAACTGAGTTTGCGAGAGAGCAAGCAGTATCT
GTCCAGCCCCAGCTTCTCCCACTCTCTGTGGTCTGCACAGGGGAATAATTAAGTGCTCTCATGAAAGGCC
TCCTATTGGGCCTGGGCCAATAAAAATAAAGCTGAGAAGATGGAAAATGGAATTAATACAAAGTCTGCCT
ACCTCTTTGCTTTATTAATCTAATGCATACCAAGTGCCTGCTGGGTGCAAGGGACCCAAACATGAGGACA
ATTGTCTTTCGTCCTCCTCCCCTACCCCAGACTCCAGTGGGGGGTGGAGCAGAGGGTGACAGCTGCTACA
ATTCTTCCTGAGGCTGGATGCTGAGGATCCTAGGCCACTTTTGGCCTCGCTGTCACTCATTCCCGGCTCA
GAAACAGCAATTCCATTGTCTCAATGGCTGTTTTCTCTCTCTCAACCTCCCTGTCCATGAGGCAGTGAAT
CCCACCAAGGCCCTCTGGCCAGTTCTCACCTATGCTACCATGCTGGCCCCAAGCTGCTATCACCTGTTTT
ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTGAGATGAAGTCTTGCTGTCACCCAG
GCTGCAGTGCAGTGGCGCAACCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGATTCTCCTGCCTC
AGCCTCCTGAGTATCTGGGATTACAGGTGCTTGCCACCATGCCCAGCTAATTTTTGTAGTTTTCGTAGAG
ACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCATGATCTACCCACCTCAGCCTCC
TAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTTATTATTATTTTTAACTAGAACAGCTTT
ACAGGCTGCGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTTGAGAGACCAAGGCGGGTGGGTCACCT
GAAGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCAACTCTACTAAAAATACAAAAATTT
AGCCAGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCGGGAAGCTGAGGCAGAAAAATTGCTTAAAC
CTGGGAGGCGGAGGTTGTGATGGGCTGAAATCACGCTTCACTCCAGCCTAAAAAAAAAAAAAAAAAAAAA
GAAAAGCTTCACAGAGATATTTACATGCTATACAACTCACCACTTAAGGCAGATAATTCAGTGGTTTTTA
GTGTAGTCACAGACATGTGCAACCACTACCACATGTGCAATTTTAGAATACTTCATCACCTTGAAATAAA
AGCTCCTGTACCCTTTACGTATCCATACCCTAAACACCCCACCCCAGCCCCGGGCAACCACTAATCTGCT
TTCTGTTTCTATGGATTTGCCTGTTGTTGTGGACATTTCACATAAATGAAATCTTATAATTTGTGACATT
TTGTGTCTGGCTTCTTTCACTCAGCACAGTGTGCTCTACCACATCATCAGTACTCCCTTCCTTTTTTTTC
CCCCCTCTTTGAGACAAGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCAATCAAAGCTCACTT
CAACCTCTGCCTCCCGGGCTCAATCAAGCGATCTTCCCACCTCAGCCTCCCTAGTAGCAGGAGCTACATG
CGCCCGCCACCACTAATTTTTGTATTTGTAACAGAGATGGGGTTTCACCATGTTGCCCAAGCTGATCTCC
AACTTGTGGGCTCAGGCGATCCGCCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCA
CACCTGGCCTCATTTCTTTCCATGGTCACCTAATGTTCCATCTCACCAACATACTACATTTTGCTTAACC
ACTGTCAGCTGGACATGTAGGTGCCATCATCTCTTGCCTGAATTAAGCCAATATCCTCCTCCCTGGTTTC
CCTGTTGCCATCCCCCAGCCCCTCCCCAGAGCAGCCAGAAAGACCCTATCAAACTAAGTCACGGCCAGGC
GCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCGGACCACCTGAGGTCAGGAGT
CCAGGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACCAAAAATGTGCCGGGTGTGG
TGGCGGGTACCTGTAATCCCAGCTACTTGGAGGCAGGAGAATCACTTGAACCTAGGAGGCAGAGGTTGCA
GAGAGCCGAGATCACACCATGGCCCTCCAGCCTGGGCGACAGAGCAAGACCAAGACTCTGTCTCAAAAAA
AAAAACAAACCTAAGAGTACATCACTATTCTGCTCAAAACTTTTAATGGGTTCCTACTGTGCTTAGAAAA
AAACTCGAGTCCTCACAAAGCCAGCCTACCGGGCCCCTCCTAACCCGACTCCTCTATACTCATACCTCAT
CTCCCCCATTGCCCCTCACTCGCCAGCCTTGCTGCCGTGTCTCAAACACACCTCAGCACCTTTGCACTTG
CTGTTCCTGCTGCCTGGAAGGGTCACAAATCCCCCACTTCTTTTGGGCCTCCTTTGCTCCAGAAAGGCAT
TTCCTCACAGCCCCAACTAAAACAGCACCGCTTCCAGTCAGCCCTGCCCTGTGAGAACAGCTAATAAGCA
CTCCATAGCAATGGCTGAATAAATGGAACTAGAATAAAGGCGTTCAGGCAGAGTTGAACATGTCTCTTTA
TCTGACCCTTCAAACAGGCAATCTGAAGGGGTCACTTCCCAGGCAGCAGGGAAAACAGGAGCCAAGAAAG
GTCAGTCCGAAAAGCACCAGAGCCTTTTGGGGTATGCAGAGTAGGACTAGCTGGCTGGCGTCAGGGCAGA
AGACAAAGCTGGAAGAGCTGGTCAGCCACACAGGGCATGTGTTTGTTTGTTTGTTTTTTTGTTTTTTGAG
ACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCACTGGAGCCTCGACCTC
CCAGGCCCAGTGAGTCCACCACCTCAGCTTCCTGTGTAGCTGGGACTACAGGTGCATGCCACCACGCCTG
GCTAATTTTTGTTTTAGTAGAGACAGTGTTTCACCACGTTTCCCAGGCTGGTCGTGAACTCCTGGACTCA
AGCAAACCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGAATGAGCCACCCACCACGCCCAGCCT
GGGCCTGTGTACTTGTTAAGCAATAGGGAACTGCTAATTAGATTGGAGCTGAGCCACTCAATCAGGATCT
GCCCAAGAGTACTGTAACTTACTCCTCCGATGAAGGGGTAGGTTAAGACCAGTAGCAGGGAAAACCAGTC
ACCAAATAAAAGAGAAGTAACCAGGGTAGGGGCGTGAGGTAAGGAAAGAAAGGGTGGGACATGCCAAAAG
ACAGGAACATCCCCTGACCAATCCATGGGTAGAGAAAAGCCACAGTCTATTCTGGGCTCCAAATCTAGGT
GGCCAAGAGATGGTGTATTTTAAGGAAATAAAGCAAAGTTGTTTTGTTGGTGGGGAAATAAATTTGGGGC
AGGCCCGGCATGGTGCCTCACTTCTGTAATCCCAGCACTTTGAGAAGCCAGCGTGGGAGGATGGCTTGAG
CCCAGGAGTTCGAGACCAACCTGGACAATAAGTCGAGACCGCGTCTATACAAAAACAATTTTTAAAAAAG
TAGCCGGGTGGGTGGGGGGAGGGGGGAGGGACAGCATTAGGAGATATACCTAATGCAAATGACGAGTTAA
CGGGTCCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCT
AAAACTTAAAAAAACTTAAAAAACACATAGCCCAAGGGGCACCTTCTATGTAGCAAAGGCTAAAAAATAA
ATAAGTAGAAATTAAAAAAAGAAAAAAATTAGCCCGGTGTGGTGGCATGGGCCTGTAGTCCCAGCTACTT
GGGAGGCTGTGCCGGGAGGATCGCTTGAGCCAGGAGGTCGAGGCTGCCAGTGATGGCGCCATGGCATTCC
AGCCTGGGTGACAGAGGGAGACCCTTTCTCAAGAAAAATAAATTTAAAAAAAGAAATTGGGGCCCAGCGT
GGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCGAAGCGGGCGGATCACTTGAAGTCGGGAATTAG
AGACAAGCCTGGGCAACATGGTGAAACCCCGTCTCTACTACAAATACAAAAATTAGCCGGATGTGCTTGC
TTGAACCCGGAAGACGGAGGCTGCAGTGAGCCGAGATAGTGTCACTGCACTCCAGCCTGGGCGACAGAGC
AAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATAAATAAATTGGGGTGAACC
GAATCTGCTAAGATAAAATTTTCGAGAAACCGGGCTGGACAGGATCTAAAGCTCAAAACTGATTAGATCA
GGAAAGGATCCGGCGGGGTTTTCCCCGCCCAAAGTGGGTGGCCATGACCGCTAAGGCGCCAGGAGCGCAT
GAACTTGAAAGGTGACAGCGGGGAACTCACAACCCAGACACGCCACGTGTACCCAGTTACCCTCAAGTGT
CCCCAGGCAGGCTTTCCACCCCGGAGTTTATTCCCACCTGGGGACTCCTATTTCCAAAAGAAAATCTTTT
TTTCATTCTGTTTTTTTTGAGGCAGAATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGTCGCGATCTCG
GCTCACTGTAACCTCCACCTCCCGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGACCA
CAGGCGCTCGCCACCACGCTCGGCTGATTTTTTTTTGTATTTTGAGTAGAGACGAGGTTTCACCATGTTG
GCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGTCTCTCCCAAAGTACTGAGATT
ACAAGAGCCACCGCGCCCGGCCTTCCAAAATAAAGTCTTATTTGCTCTAAATCTCAGAATCCCGAATCCC
GTAAAAAGTAGACCAAGAAGAAGGTAGACTGGGAAAGGGATCAAGTCCCTCGGACCCAAAGAAACCCCTG
ACAACTGAAAGCTCCAACTTCTCCCACCCAGGCCCCAGACCCCGGCGTCACCCCCTCGTCCCTCTCCAAA
TGGCCCCAGGCCGCCGCGGGGTCTATTCGGACGAACTGACAGACTCCAAGTGGGGCTCGGAGCGCCGTAG
GCCATGACAGCCCCTCCGAGAAGCGGGCCCCGAGCCCCGAGCACCGCGCGCCAACGGCTGGCCCACCCCT
AGCGCATGCGCCCCGGTGCCCAACGGCCAACACACAGCGCTCTGACACACCAACCGCCCCGCCCCCACCG
TCTCGCGACCCTTTCTCCCCCTCCCCTTAGATCCCAACGTCTCCCCTCGTCCTCTCGCTCTCAGTTCAGA
CGTCCCCACACCGCGGCCCCGCGCCCGGGATCCGCTGCTCACCTGGCTCCCCGTTCTTCTCCGCGCGCTG
CTAAGAGACACTTCCAACTTCGGTTTTCCGCCGGGCGCTCAGACACGAGTTGCTGCGCTTCCTGCCTCTT
GCGTCGGGCTGCTGCT