Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.41624212_41624236delinsCCAGGTAGGAGGCCAGGCGGTCATTCA2260105454KRT17c.274_298delinsAATGACCGCCTGGCCTCCTACCTGG (p.Asn92=)
c.-312-30_-312-6delinsAATGACCGCCTGGCCTCCTACCTGG (n.-312-30_-312-6delinsAATGACCGCCTGGCCTCCTACCTGG)
n.340_364delinsAATGACCGCCTGGCCTCCTACCTGG
n.61_85delinsAATGACCGCCTGGCCTCCTACCTGG
c.69_72-21delinsAATGACCGCCTGGCCTCCTACCTGG
c.229_253delinsAATGACCGCCTGGCCTCCTACCTGG (p.Asn77=)
17g.41624213_41624236delCA216608KRT17c.274_297del (p.Asn92_Leu99del)
c.-312-30_-312-7del (n.-312-30_-312-7del)
n.340_363del
n.61_84del
c.69_72-22del
c.229_252del (p.Asn77_Leu84del)
 ClinVar dbSNP
17g.41624218_41624232delCA216611KRT17c.281_295del (p.Arg94_Tyr98del)
c.-312-23_-312-9del (n.-312-23_-312-9del)
n.347_361del
n.68_82del
c.71+5_71+19del (n.71+5_71+19del)
c.236_250del (p.Arg79_Tyr83del)
 ClinVar dbSNP
17g.41624232T>ACA399512483KRT17c.278A>T (p.Asp93Val)
c.-312-26A>T (n.-312-26A>T)
n.344A>T
n.65A>T
c.71+2A>T (n.71+2A>T)
c.233A>T (p.Asp78Val)
 gnomAD v4
17g.41624232T>CCA399512485KRT17c.278A>G (p.Asp93Gly)
c.-312-26A>G (n.-312-26A>G)
n.344A>G
n.65A>G
c.71+2A>G (n.71+2A>G)
c.233A>G (p.Asp78Gly)
17g.41624232T>GCA399512480KRT17c.278A>C (p.Asp93Ala)
c.-312-26A>C (n.-312-26A>C)
n.344A>C
n.65A>C
c.71+2A>C (n.71+2A>C)
c.233A>C (p.Asp78Ala)
17g.41624232_41624241delinsACA2695225892KRT17c.269_278delinsT (p.Asn90_Asp93delinsIle)
c.-312-35_-312-26delinsT (n.-312-35_-312-26delinsT)
n.335_344delinsT
n.56_65delinsT
c.64_71+2delinsT
c.224_233delinsT (p.Asn75_Asp78delinsIle)
17g.41624233C>ACA399512488KRT17c.277G>T (p.Asp93Tyr)
c.-312-27G>T (n.-312-27G>T)
n.343G>T
n.64G>T
c.71+1G>T (n.71+1G>T)
c.232G>T (p.Asp78Tyr)
17g.41624233C>GCA399512489KRT17c.277G>C (p.Asp93His)
c.-312-27G>C (n.-312-27G>C)
n.343G>C
n.64G>C
c.71+1G>C (n.71+1G>C)
c.232G>C (p.Asp78His)
17g.41624233C>TCA399512490KRT17c.277G>A (p.Asp93Asn)
c.-312-27G>A (n.-312-27G>A)
n.343G>A
n.64G>A
c.71+1G>A (n.71+1G>A)
c.232G>A (p.Asp78Asn)
17g.41624234A=CA2260105467KRT17c.276T= (p.Asn92=)
c.-312-28T= (n.-312-28T=)
n.342T=
n.63T=
c.71T= (p.Met24=)
c.231T= (p.Asn77=)
17g.41624234A>CCA399512492KRT17c.276T>G (p.Asn92Lys)
c.-312-28T>G (n.-312-28T>G)
n.342T>G
n.63T>G
c.71T>G (p.Met24Arg)
c.231T>G (p.Asn77Lys)
17g.41624234A>GCA8563801KRT17c.276T>C (p.Asn92=)
c.-312-28T>C (n.-312-28T>C)
n.342T>C
n.63T>C
c.71T>C (p.Met24Thr)
c.231T>C (p.Asn77=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41624234A>TCA399512496KRT17c.276T>A (p.Asn92Lys)
c.-312-28T>A (n.-312-28T>A)
n.342T>A
n.63T>A
c.71T>A (p.Met24Lys)
c.231T>A (p.Asn77Lys)
17g.41624235T>ACA399512502KRT17c.275A>T (p.Asn92Ile)
c.-312-29A>T (n.-312-29A>T)
n.341A>T
n.62A>T
c.70A>T (p.Met24Leu)
c.230A>T (p.Asn77Ile)
17g.41624235T>CCA216610KRT17c.275A>G (p.Asn92Ser)
c.-312-29A>G (n.-312-29A>G)
n.341A>G
n.62A>G
c.70A>G (p.Met24Val)
c.230A>G (p.Asn77Ser)
 ClinVar dbSNP gnomAD v4
17g.41624235T>GCA399512499KRT17c.275A>C (p.Asn92Thr)
c.-312-29A>C (n.-312-29A>C)
n.341A>C
n.62A>C
c.70A>C (p.Met24Leu)
c.230A>C (p.Asn77Thr)
17g.41624235T=CA2260105468KRT17c.275A= (p.Asn92=)
c.-312-29A= (n.-312-29A=)
n.341A=
n.62A=
c.70A= (p.Met24=)
c.230A= (p.Asn77=)
17g.41624236T>ACA399512505KRT17c.274A>T (p.Asn92Tyr)
c.-312-30A>T (n.-312-30A>T)
n.340A>T
n.61A>T
c.69A>T (p.Ser23=)
c.229A>T (p.Asn77Tyr)
17g.41624236T>CCA216607KRT17c.274A>G (p.Asn92Asp)
c.-312-30A>G (n.-312-30A>G)
n.340A>G
n.61A>G
c.69A>G (p.Ser23=)
c.229A>G (p.Asn77Asp)
 ClinVar dbSNP gnomAD v4
17g.41624236T>GCA124153KRT17c.274A>C (p.Asn92His)
c.-312-30A>C (n.-312-30A>C)
n.340A>C
n.61A>C
c.69A>C (p.Ser23=)
c.229A>C (p.Asn77His)
 ClinVar dbSNP
17g.41624236T=CA2260105469KRT17c.274A= (p.Asn92=)
c.-312-30A= (n.-312-30A=)
n.340A=
n.61A=
c.69A= (p.Ser23=)
c.229A= (p.Asn77=)
17g.41624237G>ACA8563802KRT17c.273C>T (p.Leu91=)
c.-312-31C>T (n.-312-31C>T)
n.339C>T
n.60C>T
c.68C>T (p.Ser23Leu)
c.228C>T (p.Leu76=)
 dbSNP ExAC gnomAD v2
17g.41624237G>CCA399512511KRT17c.273C>G (p.Leu91=)
c.-312-31C>G (n.-312-31C>G)
n.339C>G
n.60C>G
c.68C>G (p.Ser23Ter)
c.228C>G (p.Leu76=)
17g.41624237G=CA2260105470KRT17c.273C= (p.Leu91=)
c.-312-31C= (n.-312-31C=)
n.339C=
n.60C=
c.68C= (p.Ser23=)
c.228C= (p.Leu76=)
17g.41624237G>TCA399512512KRT17c.273C>A (p.Leu91=)
c.-312-31C>A (n.-312-31C>A)
n.339C>A
n.60C>A
c.68C>A (p.Ser23Ter)
c.228C>A (p.Leu76=)
17g.41624238A>CCA399512516KRT17c.272T>G (p.Leu91Arg)
c.-312-32T>G (n.-312-32T>G)
n.338T>G
n.59T>G
c.67T>G (p.Ser23Ala)
c.227T>G (p.Leu76Arg)
17g.41624238A>GCA399512520KRT17c.272T>C (p.Leu91Pro)
c.-312-32T>C (n.-312-32T>C)
n.338T>C
n.59T>C
c.67T>C (p.Ser23Pro)
c.227T>C (p.Leu76Pro)
17g.41624238A>TCA399512518KRT17c.272T>A (p.Leu91His)
c.-312-32T>A (n.-312-32T>A)
n.338T>A
n.59T>A
c.67T>A (p.Ser23Thr)
c.227T>A (p.Leu76His)
17g.41624239G>ACA399512523KRT17c.271C>T (p.Leu91Phe)
c.-312-33C>T (n.-312-33C>T)
n.337C>T
n.58C>T
c.66C>T (p.Thr22=)
c.226C>T (p.Leu76Phe)
 dbSNP
17g.41624239G>CCA399512525KRT17c.271C>G (p.Leu91Val)
c.-312-33C>G (n.-312-33C>G)
n.337C>G
n.58C>G
c.66C>G (p.Thr22=)
c.226C>G (p.Leu76Val)
 gnomAD v4
17g.41624239G=CA2260105471KRT17c.271C= (p.Leu91=)
c.-312-33C= (n.-312-33C=)
n.337C=
n.58C=
c.66C= (p.Thr22=)
c.226C= (p.Leu76=)
17g.41624239G>TCA399512526KRT17c.271C>A (p.Leu91Ile)
c.-312-33C>A (n.-312-33C>A)
n.337C>A
n.58C>A
c.66C>A (p.Thr22=)
c.226C>A (p.Leu76Ile)
17g.41624240G>ACA399512530KRT17c.270C>T (p.Asn90=)
c.-312-34C>T (n.-312-34C>T)
n.336C>T
n.57C>T
c.65C>T (p.Thr22Ile)
c.225C>T (p.Asn75=)
 gnomAD v4
17g.41624240G>CCA399512531KRT17c.270C>G (p.Asn90Lys)
c.-312-34C>G (n.-312-34C>G)
n.336C>G
n.57C>G
c.65C>G (p.Thr22Ser)
c.225C>G (p.Asn75Lys)
17g.41624240G>TCA399512534KRT17c.270C>A (p.Asn90Lys)
c.-312-34C>A (n.-312-34C>A)
n.336C>A
n.57C>A
c.65C>A (p.Thr22Asn)
c.225C>A (p.Asn75Lys)
 gnomAD v4
17g.41624241T>ACA399512537KRT17c.269A>T (p.Asn90Ile)
c.-312-35A>T (n.-312-35A>T)
n.335A>T
n.56A>T
c.64A>T (p.Thr22Ser)
c.224A>T (p.Asn75Ile)
17g.41624241T>CCA399512539KRT17c.269A>G (p.Asn90Ser)
c.-312-35A>G (n.-312-35A>G)
n.335A>G
n.56A>G
c.64A>G (p.Thr22Ala)
c.224A>G (p.Asn75Ser)
17g.41624241T>GCA399512541KRT17c.269A>C (p.Asn90Thr)
c.-312-35A>C (n.-312-35A>C)
n.335A>C
n.56A>C
c.64A>C (p.Thr22Pro)
c.224A>C (p.Asn75Thr)
17g.41624242T>ACA399512543KRT17c.268A>T (p.Asn90Tyr)
c.-312-36A>T (n.-312-36A>T)
n.334A>T
n.55A>T
c.63A>T (p.Arg21Ser)
c.223A>T (p.Asn75Tyr)
17g.41624242T>CCA399512545KRT17c.268A>G (p.Asn90Asp)
c.-312-36A>G (n.-312-36A>G)
n.334A>G
n.55A>G
c.63A>G (p.Arg21=)
c.223A>G (p.Asn75Asp)
17g.41624242T>GCA399512546KRT17c.268A>C (p.Asn90His)
c.-312-36A>C (n.-312-36A>C)
n.334A>C
n.55A>C
c.63A>C (p.Arg21Ser)
c.223A>C (p.Asn75His)
 dbSNP gnomAD v2 gnomAD v4
17g.41624242T=CA2260105472KRT17c.268A= (p.Asn90=)
c.-312-36A= (n.-312-36A=)
n.334A=
n.55A=
c.63A= (p.Arg21=)
c.223A= (p.Asn75=)
17g.41624243C>ACA399512547KRT17c.267G>T (p.Gln89His)
c.-312-37G>T (n.-312-37G>T)
n.333G>T
n.54G>T
c.62G>T (p.Arg21Ile)
c.222G>T (p.Gln74His)
17g.41624243C=CA2260105473KRT17c.267G= (p.Gln89=)
c.-312-37G= (n.-312-37G=)
n.333G=
n.54G=
c.62G= (p.Arg21=)
c.222G= (p.Gln74=)
17g.41624243C>GCA8563803KRT17c.267G>C (p.Gln89His)
c.-312-37G>C (n.-312-37G>C)
n.333G>C
n.54G>C
c.62G>C (p.Arg21Thr)
c.222G>C (p.Gln74His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41624243C>TCA399512549KRT17c.267G>A (p.Gln89=)
c.-312-37G>A (n.-312-37G>A)
n.333G>A
n.54G>A
c.62G>A (p.Arg21Lys)
c.222G>A (p.Gln74=)
17g.41624244T>ACA399512554KRT17c.266A>T (p.Gln89Leu)
c.-312-38A>T (n.-312-38A>T)
n.332A>T
n.53A>T
c.61A>T (p.Arg21Ter)
c.221A>T (p.Gln74Leu)
17g.41624244T>CCA399512555KRT17c.266A>G (p.Gln89Arg)
c.-312-38A>G (n.-312-38A>G)
n.332A>G
n.53A>G
c.61A>G (p.Arg21Gly)
c.221A>G (p.Gln74Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.41624244T>GCA399512558KRT17c.266A>C (p.Gln89Pro)
c.-312-38A>C (n.-312-38A>C)
n.332A>C
n.53A>C
c.61A>C (p.Arg21=)
c.221A>C (p.Gln74Pro)
17g.41624244T=CA2260105474KRT17c.266A= (p.Gln89=)
c.-312-38A= (n.-312-38A=)
n.332A=
n.53A=
c.61A= (p.Arg21=)
c.221A= (p.Gln74=)
17g.41624245G>ACA399512561KRT17c.265C>T (p.Gln89Ter)
c.-312-39C>T (n.-312-39C>T)
n.331C>T
n.52C>T
c.60C>T (p.Cys20=)
c.220C>T (p.Gln74Ter)
 gnomAD v4
17g.41624245G>CCA399512563KRT17c.265C>G (p.Gln89Glu)
c.-312-39C>G (n.-312-39C>G)
n.331C>G
n.52C>G
c.60C>G (p.Cys20Trp)
c.220C>G (p.Gln74Glu)
17g.41624245G>TCA399512565KRT17c.265C>A (p.Gln89Lys)
c.-312-39C>A (n.-312-39C>A)
n.331C>A
n.52C>A
c.60C>A (p.Cys20Ter)
c.220C>A (p.Gln74Lys)
17g.41624245_41624246insACA645576831KRT17c.264_265insT (p.Gln89SerfsTer5)
c.-312-40_-312-39insT (n.-312-40_-312-39insT)
n.330_331insT
n.51_52insT
c.59_60insT (p.Arg21GlnfsTer8)
c.219_220insT (p.Gln74SerfsTer5)
 COSMIC
17g.41624246C>ACA399512567KRT17c.264G>T (p.Met88Ile)
c.-312-40G>T (n.-312-40G>T)
n.330G>T
n.51G>T
c.59G>T (p.Cys20Phe)
c.219G>T (p.Met73Ile)
17g.41624246C=CA2260105475KRT17c.264G= (p.Met88=)
c.-312-40G= (n.-312-40G=)
n.330G=
n.51G=
c.59G= (p.Cys20=)
c.219G= (p.Met73=)
17g.41624246C>GCA399512569KRT17c.264G>C (p.Met88Ile)
c.-312-40G>C (n.-312-40G>C)
n.330G>C
n.51G>C
c.59G>C (p.Cys20Ser)
c.219G>C (p.Met73Ile)
17g.41624246C>TCA399512570KRT17c.264G>A (p.Met88Ile)
c.-312-40G>A (n.-312-40G>A)
n.330G>A
n.51G>A
c.59G>A (p.Cys20Tyr)
c.219G>A (p.Met73Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41624247A=CA2260105476KRT17c.263T= (p.Met88=)
c.-312-41T= (n.-312-41T=)
n.329T=
n.50T=
c.58T= (p.Cys20=)
c.218T= (p.Met73=)
17g.41624247A>CCA399512572KRT17c.263T>G (p.Met88Arg)
c.-312-41T>G (n.-312-41T>G)
n.329T>G
n.50T>G
c.58T>G (p.Cys20Gly)
c.218T>G (p.Met73Arg)
17g.41624247A>GCA216606KRT17c.263T>C (p.Met88Thr)
c.-312-41T>C (n.-312-41T>C)
n.329T>C
n.50T>C
c.58T>C (p.Cys20Arg)
c.218T>C (p.Met73Thr)
 ClinVar dbSNP
17g.41624247A>TCA216605KRT17c.263T>A (p.Met88Lys)
c.-312-41T>A (n.-312-41T>A)
n.329T>A
n.50T>A
c.58T>A (p.Cys20Ser)
c.218T>A (p.Met73Lys)
 ClinVar dbSNP
17g.41624248T>ACA399512579KRT17c.262A>T (p.Met88Leu)
c.-312-42A>T (n.-312-42A>T)
n.328A>T
n.49A>T
c.57A>T (p.Pro19=)
c.217A>T (p.Met73Leu)
17g.41624248T>CCA399512576KRT17c.262A>G (p.Met88Val)
c.-312-42A>G (n.-312-42A>G)
n.328A>G
n.49A>G
c.57A>G (p.Pro19=)
c.217A>G (p.Met73Val)
17g.41624248T>GCA399512577KRT17c.262A>C (p.Met88Leu)
c.-312-42A>C (n.-312-42A>C)
n.328A>C
n.49A>C
c.57A>C (p.Pro19=)
c.217A>C (p.Met73Leu)
17g.41624249G>ACA399512582KRT17c.261C>T (p.Thr87=)
c.-312-43C>T (n.-312-43C>T)
n.327C>T
n.48C>T
c.56C>T (p.Pro19Leu)
c.216C>T (p.Thr72=)
 dbSNP
17g.41624249G>CCA399512584KRT17c.261C>G (p.Thr87=)
c.-312-43C>G (n.-312-43C>G)
n.327C>G
n.48C>G
c.56C>G (p.Pro19Arg)
c.216C>G (p.Thr72=)
17g.41624249G=CA2260105477KRT17c.261C= (p.Thr87=)
c.-312-43C= (n.-312-43C=)
n.327C=
n.48C=
c.56C= (p.Pro19=)
c.216C= (p.Thr72=)
17g.41624249G>TCA399512587KRT17c.261C>A (p.Thr87=)
c.-312-43C>A (n.-312-43C>A)
n.327C>A
n.48C>A
c.56C>A (p.Pro19Gln)
c.216C>A (p.Thr72=)
 gnomAD v4
17g.41624250G>ACA399512589KRT17c.260C>T (p.Thr87Ile)
c.-312-44C>T (n.-312-44C>T)
n.326C>T
n.47C>T
c.55C>T (p.Pro19Ser)
c.215C>T (p.Thr72Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.41624250G>CCA399512591KRT17c.260C>G (p.Thr87Ser)
c.-312-44C>G (n.-312-44C>G)
n.326C>G
n.47C>G
c.55C>G (p.Pro19Ala)
c.215C>G (p.Thr72Ser)
17g.41624250G=CA2260105478KRT17c.260C= (p.Thr87=)
c.-312-44C= (n.-312-44C=)
n.326C=
n.47C=
c.55C= (p.Pro19=)
c.215C= (p.Thr72=)
17g.41624250G>TCA399512594KRT17c.260C>A (p.Thr87Asn)
c.-312-44C>A (n.-312-44C>A)
n.326C>A
n.47C>A
c.55C>A (p.Pro19Thr)
c.215C>A (p.Thr72Asn)
17g.41624251T>ACA399512597KRT17c.259A>T (p.Thr87Ser)
c.-312-45A>T (n.-312-45A>T)
n.325A>T
n.46A>T
c.54A>T (p.Pro18=)
c.214A>T (p.Thr72Ser)
17g.41624251T>CCA399512599KRT17c.259A>G (p.Thr87Ala)
c.-312-45A>G (n.-312-45A>G)
n.325A>G
n.46A>G
c.54A>G (p.Pro18=)
c.214A>G (p.Thr72Ala)
17g.41624251T>GCA399512601KRT17c.259A>C (p.Thr87Pro)
c.-312-45A>C (n.-312-45A>C)
n.325A>C
n.46A>C
c.54A>C (p.Pro18=)
c.214A>C (p.Thr72Pro)
17g.41624252G>ACA399512603KRT17c.258C>T (p.Ala86=)
c.-312-46C>T (n.-312-46C>T)
n.324C>T
n.45C>T
c.53C>T (p.Pro18Leu)
c.213C>T (p.Ala71=)
 gnomAD v4
17g.41624252G>CCA399512605KRT17c.258C>G (p.Ala86=)
c.-312-46C>G (n.-312-46C>G)
n.324C>G
n.45C>G
c.53C>G (p.Pro18Arg)
c.213C>G (p.Ala71=)
17g.41624252G>TCA399512607KRT17c.258C>A (p.Ala86=)
c.-312-46C>A (n.-312-46C>A)
n.324C>A
n.45C>A
c.53C>A (p.Pro18Gln)
c.213C>A (p.Ala71=)
17g.41624253G>ACA399512612KRT17c.257C>T (p.Ala86Val)
c.-312-47C>T (n.-312-47C>T)
n.323C>T
n.44C>T
c.52C>T (p.Pro18Ser)
c.212C>T (p.Ala71Val)
17g.41624253G>CCA399512614KRT17c.257C>G (p.Ala86Gly)
c.-312-47C>G (n.-312-47C>G)
n.323C>G
n.44C>G
c.52C>G (p.Pro18Ala)
c.212C>G (p.Ala71Gly)
17g.41624253G=CA2260105479KRT17c.257C= (p.Ala86=)
c.-312-47C= (n.-312-47C=)
n.323C=
n.44C=
c.52C= (p.Pro18=)
c.212C= (p.Ala71=)
17g.41624253G>TCA399512610KRT17c.257C>A (p.Ala86Asp)
c.-312-47C>A (n.-312-47C>A)
n.323C>A
n.44C>A
c.52C>A (p.Pro18Thr)
c.212C>A (p.Ala71Asp)
 dbSNP
17g.41624254C>ACA399512617KRT17c.256G>T (p.Ala86Ser)
c.-312-48G>T (n.-312-48G>T)
n.322G>T
n.43G>T
c.51G>T (p.Arg17Ser)
c.211G>T (p.Ala71Ser)
17g.41624254C=CA2260105480KRT17c.256G= (p.Ala86=)
c.-312-48G= (n.-312-48G=)
n.322G=
n.43G=
c.51G= (p.Arg17=)
c.211G= (p.Ala71=)
17g.41624254C>GCA399512621KRT17c.256G>C (p.Ala86Pro)
c.-312-48G>C (n.-312-48G>C)
n.322G>C
n.43G>C
c.51G>C (p.Arg17Ser)
c.211G>C (p.Ala71Pro)
17g.41624254C>TCA399512618KRT17c.256G>A (p.Ala86Thr)
c.-312-48G>A (n.-312-48G>A)
n.322G>A
n.43G>A
c.51G>A (p.Arg17=)
c.211G>A (p.Ala71Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41624255C>ACA399512623KRT17c.255G>T (p.Lys85Asn)
c.-312-49G>T (n.-312-49G>T)
n.321G>T
n.42G>T
c.50G>T (p.Arg17Met)
c.210G>T (p.Lys70Asn)
 COSMIC
17g.41624255C=CA2260105481KRT17c.255G= (p.Lys85=)
c.-312-49G= (n.-312-49G=)
n.321G=
n.42G=
c.50G= (p.Arg17=)
c.210G= (p.Lys70=)
17g.41624255C>GCA399512627KRT17c.255G>C (p.Lys85Asn)
c.-312-49G>C (n.-312-49G>C)
n.321G>C
n.42G>C
c.50G>C (p.Arg17Thr)
c.210G>C (p.Lys70Asn)
17g.41624255C>TCA8563804KRT17c.255G>A (p.Lys85=)
c.-312-49G>A (n.-312-49G>A)
n.321G>A
n.42G>A
c.50G>A (p.Arg17Lys)
c.210G>A (p.Lys70=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41624256T>ACA399512630KRT17c.254A>T (p.Lys85Met)
c.-312-50A>T (n.-312-50A>T)
n.320A>T
n.41A>T
c.49A>T (p.Arg17Trp)
c.209A>T (p.Lys70Met)
17g.41624256T>CCA399512634KRT17c.254A>G (p.Lys85Arg)
c.-312-50A>G (n.-312-50A>G)
n.320A>G
n.41A>G
c.49A>G (p.Arg17Gly)
c.209A>G (p.Lys70Arg)
 COSMIC
17g.41624256T>GCA399512632KRT17c.254A>C (p.Lys85Thr)
c.-312-50A>C (n.-312-50A>C)
n.320A>C
n.41A>C
c.49A>C (p.Arg17=)
c.209A>C (p.Lys70Thr)
17g.41624257T>ACA399512637KRT17c.253A>T (p.Lys85Ter)
c.-312-51A>T (n.-312-51A>T)
n.319A>T
n.40A>T
c.48A>T (p.Arg16Ser)
c.208A>T (p.Lys70Ter)
17g.41624257T>CCA399512641KRT17c.253A>G (p.Lys85Glu)
c.-312-51A>G (n.-312-51A>G)
n.319A>G
n.40A>G
c.48A>G (p.Arg16=)
c.208A>G (p.Lys70Glu)
17g.41624257T>GCA399512639KRT17c.253A>C (p.Lys85Gln)
c.-312-51A>C (n.-312-51A>C)
n.319A>C
n.40A>C
c.48A>C (p.Arg16Ser)
c.208A>C (p.Lys70Gln)
17g.41624258C>ACA399512644KRT17c.252G>T (p.Glu84Asp)
c.-312-52G>T (n.-312-52G>T)
n.318G>T
n.39G>T
c.47G>T (p.Arg16Ile)
c.207G>T (p.Glu69Asp)
17g.41624258C>GCA399512646KRT17c.252G>C (p.Glu84Asp)
c.-312-52G>C (n.-312-52G>C)
n.318G>C
n.39G>C
c.47G>C (p.Arg16Thr)
c.207G>C (p.Glu69Asp)
17g.41624258C>TCA399512648KRT17c.252G>A (p.Glu84=)
c.-312-52G>A (n.-312-52G>A)
n.318G>A
n.39G>A
c.47G>A (p.Arg16Lys)
c.207G>A (p.Glu69=)
17g.41624259T>ACA399512650KRT17c.251A>T (p.Glu84Val)
c.-312-53A>T (n.-312-53A>T)
n.317A>T
n.38A>T
c.46A>T (p.Arg16Ter)
c.206A>T (p.Glu69Val)
17g.41624259T>CCA399512653KRT17c.251A>G (p.Glu84Gly)
c.-312-53A>G (n.-312-53A>G)
n.317A>G
n.38A>G
c.46A>G (p.Arg16Gly)
c.206A>G (p.Glu69Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.41624259T>GCA399512655KRT17c.251A>C (p.Glu84Ala)
c.-312-53A>C (n.-312-53A>C)
n.317A>C
n.38A>C
c.46A>C (p.Arg16=)
c.206A>C (p.Glu69Ala)
17g.41624259T=CA2260105482KRT17c.251A= (p.Glu84=)
c.-312-53A= (n.-312-53A=)
n.317A=
n.38A=
c.46A= (p.Arg16=)
c.206A= (p.Glu69=)
17g.41624260C>ACA399512658KRT17c.250G>T (p.Glu84Ter)
c.-312-54G>T (n.-312-54G>T)
n.316G>T
n.37G>T
c.45G>T (p.Val15=)
c.205G>T (p.Glu69Ter)
17g.41624260C>GCA399512659KRT17c.250G>C (p.Glu84Gln)
c.-312-54G>C (n.-312-54G>C)
n.316G>C
n.37G>C
c.45G>C (p.Val15=)
c.205G>C (p.Glu69Gln)
17g.41624260C>TCA399512662KRT17c.250G>A (p.Glu84Lys)
c.-312-54G>A (n.-312-54G>A)
n.316G>A
n.37G>A
c.45G>A (p.Val15=)
c.205G>A (p.Glu69Lys)
 gnomAD v4
17g.41624261A=CA2260105483KRT17c.249T= (p.Gly83=)
c.-312-55T= (n.-312-55T=)
n.315T=
n.36T=
c.44T= (p.Val15=)
c.204T= (p.Gly68=)
17g.41624261A>CCA399512665KRT17c.249T>G (p.Gly83=)
c.-312-55T>G (n.-312-55T>G)
n.315T>G
n.36T>G
c.44T>G (p.Val15Gly)
c.204T>G (p.Gly68=)
 dbSNP
17g.41624261A>GCA399512667KRT17c.249T>C (p.Gly83=)
c.-312-55T>C (n.-312-55T>C)
n.315T>C
n.36T>C
c.44T>C (p.Val15Ala)
c.204T>C (p.Gly68=)
17g.41624261A>TCA8563805KRT17c.249T>A (p.Gly83=)
c.-312-55T>A (n.-312-55T>A)
n.315T>A
n.36T>A
c.44T>A (p.Val15Glu)
c.204T>A (p.Gly68=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41624262C>ACA399512671KRT17c.248G>T (p.Gly83Val)
c.-312-56G>T (n.-312-56G>T)
n.314G>T
n.35G>T
c.43G>T (p.Val15Leu)
c.203G>T (p.Gly68Val)
 dbSNP
17g.41624262C=CA2260105484KRT17c.248G= (p.Gly83=)
c.-312-56G= (n.-312-56G=)
n.314G=
n.35G=
c.43G= (p.Val15=)
c.203G= (p.Gly68=)
17g.41624262C>GCA399512673KRT17c.248G>C (p.Gly83Ala)
c.-312-56G>C (n.-312-56G>C)
n.314G>C
n.35G>C
c.43G>C (p.Val15Leu)
c.203G>C (p.Gly68Ala)
17g.41624262C>TCA399512672KRT17c.248G>A (p.Gly83Asp)
c.-312-56G>A (n.-312-56G>A)
n.314G>A
n.35G>A
c.43G>A (p.Val15Met)
c.203G>A (p.Gly68Asp)
17g.41624263C>ACA399512676KRT17c.247G>T (p.Gly83Cys)
c.-312-57G>T (n.-312-57G>T)
n.313G>T
n.34G>T
c.42G>T (p.Glu14Asp)
c.202G>T (p.Gly68Cys)
17g.41624263C=CA2260105485KRT17c.247G= (p.Gly83=)
c.-312-57G= (n.-312-57G=)
n.313G=
n.34G=
c.42G= (p.Glu14=)
c.202G= (p.Gly68=)
17g.41624263C>GCA399512678KRT17c.247G>C (p.Gly83Arg)
c.-312-57G>C (n.-312-57G>C)
n.313G>C
n.34G>C
c.42G>C (p.Glu14Asp)
c.202G>C (p.Gly68Arg)
17g.41624263C>TCA399512680KRT17c.247G>A (p.Gly83Ser)
c.-312-57G>A (n.-312-57G>A)
n.313G>A
n.34G>A
c.42G>A (p.Glu14=)
c.202G>A (p.Gly68Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.41624264T>ACA399512683KRT17c.246A>T (p.Gly82=)
c.-312-58A>T (n.-312-58A>T)
n.312A>T
n.33A>T
c.41A>T (p.Glu14Val)
c.201A>T (p.Gly67=)
17g.41624264T>CCA399512685KRT17c.246A>G (p.Gly82=)
c.-312-58A>G (n.-312-58A>G)
n.312A>G
n.33A>G
c.41A>G (p.Glu14Gly)
c.201A>G (p.Gly67=)
17g.41624264T>GCA399512687KRT17c.246A>C (p.Gly82=)
c.-312-58A>C (n.-312-58A>C)
n.312A>C
n.33A>C
c.41A>C (p.Glu14Ala)
c.201A>C (p.Gly67=)
17g.41624265C>ACA399512689KRT17c.245G>T (p.Gly82Val)
c.-312-59G>T (n.-312-59G>T)
n.311G>T
n.32G>T
c.40G>T (p.Glu14Ter)
c.200G>T (p.Gly67Val)
17g.41624265C=CA2260105486KRT17c.245G= (p.Gly82=)
c.-312-59G= (n.-312-59G=)
n.311G=
n.32G=
c.40G= (p.Glu14=)
c.200G= (p.Gly67=)
17g.41624265C>GCA399512691KRT17c.245G>C (p.Gly82Ala)
c.-312-59G>C (n.-312-59G>C)
n.311G>C
n.32G>C
c.40G>C (p.Glu14Gln)
c.200G>C (p.Gly67Ala)
17g.41624265C>TCA399512692KRT17c.245G>A (p.Gly82Glu)
c.-312-59G>A (n.-312-59G>A)
n.311G>A
n.32G>A
c.40G>A (p.Glu14Lys)
c.200G>A (p.Gly67Glu)
 dbSNP gnomAD v4
17g.41624266C>ACA399512697KRT17c.244G>T (p.Gly82Ter)
c.-312-60G>T (n.-312-60G>T)
n.310G>T
n.31G>T
c.39G>T (p.Leu13=)
c.199G>T (p.Gly67Ter)
17g.41624266C>GCA399512696KRT17c.244G>C (p.Gly82Arg)
c.-312-60G>C (n.-312-60G>C)
n.310G>C
n.31G>C
c.39G>C (p.Leu13=)
c.199G>C (p.Gly67Arg)
17g.41624266C>TCA399512694KRT17c.244G>A (p.Gly82Arg)
c.-312-60G>A (n.-312-60G>A)
n.310G>A
n.31G>A
c.39G>A (p.Leu13=)
c.199G>A (p.Gly67Arg)
 ClinVar COSMIC
17g.41624267A=CA2260105487KRT17c.243T= (p.Ala81=)
c.-312-61T= (n.-312-61T=)
n.309T=
n.30T=
c.38T= (p.Leu13=)
c.198T= (p.Ala66=)
17g.41624267A>CCA399512701KRT17c.243T>G (p.Ala81=)
c.-312-61T>G (n.-312-61T>G)
n.309T>G
n.30T>G
c.38T>G (p.Leu13Arg)
c.198T>G (p.Ala66=)
 gnomAD v4
17g.41624267A>GCA8563806KRT17c.243T>C (p.Ala81=)
c.-312-61T>C (n.-312-61T>C)
n.309T>C
n.30T>C
c.38T>C (p.Leu13Pro)
c.198T>C (p.Ala66=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.41624267A>TCA399512705KRT17c.243T>A (p.Ala81=)
c.-312-61T>A (n.-312-61T>A)
n.309T>A
n.30T>A
c.38T>A (p.Leu13Gln)
c.198T>A (p.Ala66=)
17g.41624267_41624268delinsGACA2580617964KRT17c.242_243delinsTC (p.Ala81Val)
c.-312-62_-312-61delinsTC (n.-312-62_-312-61delinsTC)
n.308_309delinsTC
n.29_30delinsTC
c.37_38delinsTC (p.Leu13Ser)
c.197_198delinsTC (p.Ala66Val)
 ClinVar
17g.41624268G>ACA8563808KRT17c.242C>T (p.Ala81Val)
c.-312-62C>T (n.-312-62C>T)
n.308C>T
n.29C>T
c.37C>T (p.Leu13=)
c.197C>T (p.Ala66Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.41624268G>CCA399512709KRT17c.242C>G (p.Ala81Gly)
c.-312-62C>G (n.-312-62C>G)
n.308C>G
n.29C>G
c.37C>G (p.Leu13Val)
c.197C>G (p.Ala66Gly)
 gnomAD v4
17g.41624268G=CA2260105488KRT17c.242C= (p.Ala81=)
c.-312-62C= (n.-312-62C=)
n.308C=
n.29C=
c.37C= (p.Leu13=)
c.197C= (p.Ala66=)
17g.41624268G>TCA8563807KRT17c.242C>A (p.Ala81Asp)
c.-312-62C>A (n.-312-62C>A)
n.308C>A
n.29C>A
c.37C>A (p.Leu13Met)
c.197C>A (p.Ala66Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41624269C>ACA399512713KRT17c.241G>T (p.Ala81Ser)
c.-312-63G>T (n.-312-63G>T)
n.307G>T
n.28G>T
c.36G>T (p.Trp12Cys)
c.196G>T (p.Ala66Ser)
17g.41624269C>GCA399512718KRT17c.241G>C (p.Ala81Pro)
c.-312-63G>C (n.-312-63G>C)
n.307G>C
n.28G>C
c.36G>C (p.Trp12Cys)
c.196G>C (p.Ala66Pro)
17g.41624269C>TCA399512720KRT17c.241G>A (p.Ala81Thr)
c.-312-63G>A (n.-312-63G>A)
n.307G>A
n.28G>A
c.36G>A (p.Trp12Ter)
c.196G>A (p.Ala66Thr)
 gnomAD v4 COSMIC
17g.41624270C>ACA399512722KRT17c.240G>T (p.Leu80=)
c.-312-64G>T (n.-312-64G>T)
n.306G>T
n.27G>T
c.35G>T (p.Trp12Leu)
c.195G>T (p.Leu65=)
17g.41624270C=CA2260105489KRT17c.240G= (p.Leu80=)
c.-312-64G= (n.-312-64G=)
n.306G=
n.27G=
c.35G= (p.Trp12=)
c.195G= (p.Leu65=)
17g.41624270C>GCA8563809KRT17c.240G>C (p.Leu80=)
c.-312-64G>C (n.-312-64G>C)
n.306G>C
n.27G>C
c.35G>C (p.Trp12Ser)
c.195G>C (p.Leu65=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41624270C>TCA399512725KRT17c.240G>A (p.Leu80=)
c.-312-64G>A (n.-312-64G>A)
n.306G>A
n.27G>A
c.35G>A (p.Trp12Ter)
c.195G>A (p.Leu65=)
17g.41624271A=CA2260105490KRT17c.239T= (p.Leu80=)
c.-312-65T= (n.-312-65T=)
n.305T=
n.26T=
c.34T= (p.Trp12=)
c.194T= (p.Leu65=)
17g.41624271A>CCA399512732KRT17c.239T>G (p.Leu80Arg)
c.-312-65T>G (n.-312-65T>G)
n.305T>G
n.26T>G
c.34T>G (p.Trp12Gly)
c.194T>G (p.Leu65Arg)
17g.41624271A>GCA399512728KRT17c.239T>C (p.Leu80Pro)
c.-312-65T>C (n.-312-65T>C)
n.305T>C
n.26T>C
c.34T>C (p.Trp12Arg)
c.194T>C (p.Leu65Pro)
 dbSNP
17g.41624271A>TCA399512729KRT17c.239T>A (p.Leu80Gln)
c.-312-65T>A (n.-312-65T>A)
n.305T>A
n.26T>A
c.34T>A (p.Trp12Arg)
c.194T>A (p.Leu65Gln)
17g.41624272G>ACA500206450KRT17c.238C>T (p.Leu80=)
c.-312-66C>T (n.-312-66C>T)
n.304C>T
n.25C>T
c.33C>T (p.Cys11=)
c.193C>T (p.Leu65=)
17g.41624272G>CCA399512733KRT17c.238C>G (p.Leu80Val)
c.-312-66C>G (n.-312-66C>G)
n.304C>G
n.25C>G
c.33C>G (p.Cys11Trp)
c.193C>G (p.Leu65Val)
17g.41624272G>TCA399512735KRT17c.238C>A (p.Leu80Met)
c.-312-66C>A (n.-312-66C>A)
n.304C>A
n.25C>A
c.33C>A (p.Cys11Ter)
c.193C>A (p.Leu65Met)
17g.41624272_41624273delinsGCCA2260105491KRT17c.237_238delinsGC (p.Leu79=)
c.-312-67_-312-66delinsGC (n.-312-67_-312-66delinsGC)
n.303_304delinsGC
n.24_25delinsGC
c.32_33delinsGC (p.Cys11=)
c.192_193delinsGC (p.Leu64=)
17g.41624273delCA8563810KRT17c.237del (p.Leu80TrpfsTer?)
c.-312-67del (n.-312-67del)
n.303del
n.24del
c.32del (p.Cys11SerfsTer5)
c.192del (p.Leu65TrpfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41624273C>ACA399512740KRT17c.237G>T (p.Leu79=)
c.-312-67G>T (n.-312-67G>T)
n.303G>T
n.24G>T
c.32G>T (p.Cys11Phe)
c.192G>T (p.Leu64=)
17g.41624273C=CA2260105492KRT17c.237G= (p.Leu79=)
c.-312-67G= (n.-312-67G=)
n.303G=
n.24G=
c.32G= (p.Cys11=)
c.192G= (p.Leu64=)
17g.41624273C>GCA399512742KRT17c.237G>C (p.Leu79=)
c.-312-67G>C (n.-312-67G>C)
n.303G>C
n.24G>C
c.32G>C (p.Cys11Ser)
c.192G>C (p.Leu64=)
17g.41624273C>TCA399512744KRT17c.237G>A (p.Leu79=)
c.-312-67G>A (n.-312-67G>A)
n.303G>A
n.24G>A
c.32G>A (p.Cys11Tyr)
c.192G>A (p.Leu64=)
 dbSNP gnomAD v2 gnomAD v4
17g.41624274A>CCA399512748KRT17c.236T>G (p.Leu79Arg)
c.-312-68T>G (n.-312-68T>G)
n.302T>G
n.23T>G
c.31T>G (p.Cys11Gly)
c.191T>G (p.Leu64Arg)
17g.41624274A>GCA399512750KRT17c.236T>C (p.Leu79Pro)
c.-312-68T>C (n.-312-68T>C)
n.302T>C
n.23T>C
c.31T>C (p.Cys11Arg)
c.191T>C (p.Leu64Pro)
17g.41624274A>TCA399512751KRT17c.236T>A (p.Leu79Gln)
c.-312-68T>A (n.-312-68T>A)
n.302T>A
n.23T>A
c.31T>A (p.Cys11Ser)
c.191T>A (p.Leu64Gln)
17g.41624275G>ACA500206456KRT17c.235C>T (p.Leu79=)
c.-312-69C>T (n.-312-69C>T)
n.301C>T
n.22C>T
c.30C>T (p.Gly10=)
c.190C>T (p.Leu64=)
 gnomAD v4
17g.41624275G>CCA399512754KRT17c.235C>G (p.Leu79Val)
c.-312-69C>G (n.-312-69C>G)
n.301C>G
n.22C>G
c.30C>G (p.Gly10=)
c.190C>G (p.Leu64Val)
17g.41624275G=CA2260105493KRT17c.235C= (p.Leu79=)
c.-312-69C= (n.-312-69C=)
n.301C=
n.22C=
c.30C= (p.Gly10=)
c.190C= (p.Leu64=)
17g.41624275G>TCA290686138KRT17c.235C>A (p.Leu79Met)
c.-312-69C>A (n.-312-69C>A)
n.301C>A
n.22C>A
c.30C>A (p.Gly10=)
c.190C>A (p.Leu64Met)
 dbSNP gnomAD v2
17g.41624276C>ACA399512760KRT17c.234G>T (p.Gly78=)
c.-312-70G>T (n.-312-70G>T)
n.300G>T
n.21G>T
c.29G>T (p.Gly10Val)
c.189G>T (p.Gly63=)
17g.41624276C=CA2260105494KRT17c.234G= (p.Gly78=)
c.-312-70G= (n.-312-70G=)
n.300G=
n.21G=
c.29G= (p.Gly10=)
c.189G= (p.Gly63=)
17g.41624276C>GCA399512763KRT17c.234G>C (p.Gly78=)
c.-312-70G>C (n.-312-70G>C)
n.300G>C
n.21G>C
c.29G>C (p.Gly10Ala)
c.189G>C (p.Gly63=)
17g.41624276C>TCA399512759KRT17c.234G>A (p.Gly78=)
c.-312-70G>A (n.-312-70G>A)
n.300G>A
n.21G>A
c.29G>A (p.Gly10Asp)
c.189G>A (p.Gly63=)
 dbSNP gnomAD v4
17g.41624277_41624284dupCA2637840893KRT17c.227_234dup (p.Leu80MetfsTer?)
c.-312-77_-312-70dup (n.-312-77_-312-70dup)
n.293_300dup
n.14_21dup
c.22_29dup (p.Cys11Ter)
c.182_189dup (p.Leu65MetfsTer?)
 gnomAD v4
17g.41624277C>ACA399512769KRT17c.233G>T (p.Gly78Val)
c.-312-71G>T (n.-312-71G>T)
n.299G>T
n.20G>T
c.28G>T (p.Gly10Cys)
c.188G>T (p.Gly63Val)
17g.41624277C=CA2260105495KRT17c.233G= (p.Gly78=)
c.-312-71G= (n.-312-71G=)
n.299G=
n.20G=
c.28G= (p.Gly10=)
c.188G= (p.Gly63=)
17g.41624277C>GCA290686141KRT17c.233G>C (p.Gly78Ala)
c.-312-71G>C (n.-312-71G>C)
n.299G>C
n.20G>C
c.28G>C (p.Gly10Arg)
c.188G>C (p.Gly63Ala)
 dbSNP
17g.41624277C>TCA8563811KRT17c.233G>A (p.Gly78Glu)
c.-312-71G>A (n.-312-71G>A)
n.299G>A
n.20G>A
c.28G>A (p.Gly10Ser)
c.188G>A (p.Gly63Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41624278C>ACA399512771KRT17c.232G>T (p.Gly78Trp)
c.-312-72G>T (n.-312-72G>T)
n.298G>T
n.19G>T
c.27G>T (p.Met9Ile)
c.187G>T (p.Gly63Trp)
17g.41624278C>GCA399512772KRT17c.232G>C (p.Gly78Arg)
c.-312-72G>C (n.-312-72G>C)
n.298G>C
n.19G>C
c.27G>C (p.Met9Ile)
c.187G>C (p.Gly63Arg)
17g.41624278C>TCA399512774KRT17c.232G>A (p.Gly78Arg)
c.-312-72G>A (n.-312-72G>A)
n.298G>A
n.19G>A
c.27G>A (p.Met9Ile)
c.187G>A (p.Gly63Arg)
17g.41624279A=CA2260105496KRT17c.231T= (p.Asp77=)
c.-312-73T= (n.-312-73T=)
n.297T=
n.18T=
c.26T= (p.Met9=)
c.186T= (p.Asp62=)
17g.41624279A>CCA399512777KRT17c.231T>G (p.Asp77Glu)
c.-312-73T>G (n.-312-73T>G)
n.297T>G
n.18T>G
c.26T>G (p.Met9Arg)
c.186T>G (p.Asp62Glu)
17g.41624279A>GCA290686146KRT17c.231T>C (p.Asp77=)
c.-312-73T>C (n.-312-73T>C)
n.297T>C
n.18T>C
c.26T>C (p.Met9Thr)
c.186T>C (p.Asp62=)
 dbSNP gnomAD v4
17g.41624279A>TCA399512780KRT17c.231T>A (p.Asp77Glu)
c.-312-73T>A (n.-312-73T>A)
n.297T>A
n.18T>A
c.26T>A (p.Met9Lys)
c.186T>A (p.Asp62Glu)
17g.41624280T>ACA399512784KRT17c.230A>T (p.Asp77Val)
c.-312-74A>T (n.-312-74A>T)
n.296A>T
n.17A>T
c.25A>T (p.Met9Leu)
c.185A>T (p.Asp62Val)
17g.41624280T>CCA399512786KRT17c.230A>G (p.Asp77Gly)
c.-312-74A>G (n.-312-74A>G)
n.296A>G
n.17A>G
c.25A>G (p.Met9Val)
c.185A>G (p.Asp62Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.41624280T>GCA399512788KRT17c.230A>C (p.Asp77Ala)
c.-312-74A>C (n.-312-74A>C)
n.296A>C
n.17A>C
c.25A>C (p.Met9Leu)
c.185A>C (p.Asp62Ala)
 gnomAD v4
17g.41624280T=CA2260105497KRT17c.230A= (p.Asp77=)
c.-312-74A= (n.-312-74A=)
n.296A=
n.17A=
c.25A= (p.Met9=)
c.185A= (p.Asp62=)
17g.41624281C>ACA399512795KRT17c.229G>T (p.Asp77Tyr)
c.-312-75G>T (n.-312-75G>T)
n.295G>T
n.16G>T
c.24G>T (p.Leu8Phe)
c.184G>T (p.Asp62Tyr)
17g.41624281C>GCA399512794KRT17c.229G>C (p.Asp77His)
c.-312-75G>C (n.-312-75G>C)
n.295G>C
n.16G>C
c.24G>C (p.Leu8Phe)
c.184G>C (p.Asp62His)
17g.41624281C>TCA399512791KRT17c.229G>A (p.Asp77Asn)
c.-312-75G>A (n.-312-75G>A)
n.295G>A
n.16G>A
c.24G>A (p.Leu8=)
c.184G>A (p.Asp62Asn)
17g.41624282A>CCA399512798KRT17c.228T>G (p.Val76=)
c.-312-76T>G (n.-312-76T>G)
n.294T>G
n.15T>G
c.23T>G (p.Leu8Trp)
c.183T>G (p.Val61=)
17g.41624282A>GCA399512801KRT17c.228T>C (p.Val76=)
c.-312-76T>C (n.-312-76T>C)
n.294T>C
n.15T>C
c.23T>C (p.Leu8Ser)
c.183T>C (p.Val61=)
17g.41624282A>TCA399512803KRT17c.228T>A (p.Val76=)
c.-312-76T>A (n.-312-76T>A)
n.294T>A
n.15T>A
c.23T>A (p.Leu8Ter)
c.183T>A (p.Val61=)
17g.41624283A=CA2260105498KRT17c.227T= (p.Val76=)
c.-312-77T= (n.-312-77T=)
n.293T=
n.14T=
c.22T= (p.Leu8=)
c.182T= (p.Val61=)
17g.41624283A>CCA399512805KRT17c.227T>G (p.Val76Gly)
c.-312-77T>G (n.-312-77T>G)
n.293T>G
n.14T>G
c.22T>G (p.Leu8Val)
c.182T>G (p.Val61Gly)
 dbSNP
17g.41624283A>GCA399512806KRT17c.227T>C (p.Val76Ala)
c.-312-77T>C (n.-312-77T>C)
n.293T>C
n.14T>C
c.22T>C (p.Leu8=)
c.182T>C (p.Val61Ala)
 gnomAD v4
17g.41624283A>TCA399512808KRT17c.227T>A (p.Val76Asp)
c.-312-77T>A (n.-312-77T>A)
n.293T>A
n.14T>A
c.22T>A (p.Leu8Met)
c.182T>A (p.Val61Asp)
17g.41624284C>ACA399512811KRT17c.226G>T (p.Val76Phe)
c.-312-78G>T (n.-312-78G>T)
n.292G>T
n.13G>T
c.21G>T (p.Val7=)
c.181G>T (p.Val61Phe)
17g.41624284C=CA2260105499KRT17c.226G= (p.Val76=)
c.-312-78G= (n.-312-78G=)
n.292G=
n.13G=
c.21G= (p.Val7=)
c.181G= (p.Val61=)
17g.41624284C>GCA399512813KRT17c.226G>C (p.Val76Leu)
c.-312-78G>C (n.-312-78G>C)
n.292G>C
n.13G>C
c.21G>C (p.Val7=)
c.181G>C (p.Val61Leu)
17g.41624284C>TCA399512815KRT17c.226G>A (p.Val76Ile)
c.-312-78G>A (n.-312-78G>A)
n.292G>A
n.13G>A
c.21G>A (p.Val7=)
c.181G>A (p.Val61Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.41624285A=CA2260105501KRT17c.225T= (p.Gly75=)
c.-312-79T= (n.-312-79T=)
n.291T=
n.12T=
c.20T= (p.Val7=)
c.180T= (p.Gly60=)
17g.41624285A>CCA399512817KRT17c.225T>G (p.Gly75=)
c.-312-79T>G (n.-312-79T>G)
n.291T>G
n.12T>G
c.20T>G (p.Val7Gly)
c.180T>G (p.Gly60=)
 dbSNP
17g.41624285A>GCA8563812KRT17c.225T>C (p.Gly75=)
c.-312-79T>C (n.-312-79T>C)
n.291T>C
n.12T>C
c.20T>C (p.Val7Ala)
c.180T>C (p.Gly60=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41624285A>TCA399512820KRT17c.225T>A (p.Gly75=)
c.-312-79T>A (n.-312-79T>A)
n.291T>A
n.12T>A
c.20T>A (p.Val7Glu)
c.180T>A (p.Gly60=)
17g.41624285_41624286delinsACCA2260105500KRT17c.224_225delinsGT (p.Gly75=)
c.-312-80_-312-79delinsGT (n.-312-80_-312-79delinsGT)
n.290_291delinsGT
n.11_12delinsGT
c.19_20delinsGT (p.Val7=)
c.179_180delinsGT (p.Gly60=)
17g.41624286C>ACA399512823KRT17c.224G>T (p.Gly75Val)
c.-312-80G>T (n.-312-80G>T)
n.290G>T
n.11G>T
c.19G>T (p.Val7Leu)
c.179G>T (p.Gly60Val)
 dbSNP gnomAD v2 gnomAD v4
17g.41624286C=CA2260105502KRT17c.224G= (p.Gly75=)
c.-312-80G= (n.-312-80G=)
n.290G=
n.11G=
c.19G= (p.Val7=)
c.179G= (p.Gly60=)
17g.41624286C>GCA399512825KRT17c.224G>C (p.Gly75Ala)
c.-312-80G>C (n.-312-80G>C)
n.290G>C
n.11G>C
c.19G>C (p.Val7Leu)
c.179G>C (p.Gly60Ala)
17g.41624286C>TCA8563813KRT17c.224G>A (p.Gly75Asp)
c.-312-80G>A (n.-312-80G>A)
n.290G>A
n.11G>A
c.19G>A (p.Val7Met)
c.179G>A (p.Gly60Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41624290delCA772032189KRT17c.224del (p.Gly75ValfsTer?)
c.-312-80del (n.-312-80del)
n.290del
n.11del
c.19del (p.Val7CysfsTer2)
c.179del (p.Gly60ValfsTer?)
 dbSNP gnomAD v3 gnomAD v4
17g.41624287C>ACA399512827KRT17c.223G>T (p.Gly75Cys)
c.-312-81G>T (n.-312-81G>T)
n.289G>T
n.10G>T
c.18G>T (p.Gly6=)
c.178G>T (p.Gly60Cys)
17g.41624287C=CA2260105503KRT17c.223G= (p.Gly75=)
c.-312-81G= (n.-312-81G=)
n.289G=
n.10G=
c.18G= (p.Gly6=)
c.178G= (p.Gly60=)
17g.41624287C>GCA399512829KRT17c.223G>C (p.Gly75Arg)
c.-312-81G>C (n.-312-81G>C)
n.289G>C
n.10G>C
c.18G>C (p.Gly6=)
c.178G>C (p.Gly60Arg)
17g.41624287C>TCA399512832KRT17c.223G>A (p.Gly75Ser)
c.-312-81G>A (n.-312-81G>A)
n.289G>A
n.10G>A
c.18G>A (p.Gly6=)
c.178G>A (p.Gly60Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41624288C>ACA399512835KRT17c.222G>T (p.Gly74=)
c.-312-82G>T (n.-312-82G>T)
n.288G>T
n.9G>T
c.17G>T (p.Gly6Val)
c.177G>T (p.Gly59=)
17g.41624288C=CA2260105504KRT17c.222G= (p.Gly74=)
c.-312-82G= (n.-312-82G=)
n.288G=
n.9G=
c.17G= (p.Gly6=)
c.177G= (p.Gly59=)
17g.41624288C>GCA8563814KRT17c.222G>C (p.Gly74=)
c.-312-82G>C (n.-312-82G>C)
n.288G>C
n.9G>C
c.17G>C (p.Gly6Ala)
c.177G>C (p.Gly59=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41624288C>TCA399512838KRT17c.222G>A (p.Gly74=)
c.-312-82G>A (n.-312-82G>A)
n.288G>A
n.9G>A
c.17G>A (p.Gly6Glu)
c.177G>A (p.Gly59=)
17g.41624289C>ACA8563815KRT17c.221G>T (p.Gly74Val)
c.-312-83G>T (n.-312-83G>T)
n.287G>T
n.8G>T
c.16G>T (p.Gly6Trp)
c.176G>T (p.Gly59Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41624289C=CA2260105505KRT17c.221G= (p.Gly74=)
c.-312-83G= (n.-312-83G=)
n.287G=
n.8G=
c.16G= (p.Gly6=)
c.176G= (p.Gly59=)
17g.41624289C>GCA399512842KRT17c.221G>C (p.Gly74Ala)
c.-312-83G>C (n.-312-83G>C)
n.287G>C
n.8G>C
c.16G>C (p.Gly6Arg)
c.176G>C (p.Gly59Ala)
 gnomAD v4
17g.41624289C>TCA399512844KRT17c.221G>A (p.Gly74Glu)
c.-312-83G>A (n.-312-83G>A)
n.287G>A
n.8G>A
c.16G>A (p.Gly6Arg)
c.176G>A (p.Gly59Glu)
 gnomAD v4
17g.41624290C>ACA399512847KRT17c.220G>T (p.Gly74Trp)
c.-312-84G>T (n.-312-84G>T)
n.286G>T
n.7G>T
c.15G>T (p.Leu5Phe)
c.175G>T (p.Gly59Trp)
17g.41624290C=CA2260105506KRT17c.220G= (p.Gly74=)
c.-312-84G= (n.-312-84G=)
n.286G=
n.7G=
c.15G= (p.Leu5=)
c.175G= (p.Gly59=)
17g.41624290C>GCA399512849KRT17c.220G>C (p.Gly74Arg)
c.-312-84G>C (n.-312-84G>C)
n.286G>C
n.7G>C
c.15G>C (p.Leu5Phe)
c.175G>C (p.Gly59Arg)
17g.41624290C>TCA8563816KRT17c.220G>A (p.Gly74Arg)
c.-312-84G>A (n.-312-84G>A)
n.286G>A
n.7G>A
c.15G>A (p.Leu5=)
c.175G>A (p.Gly59Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41624291A>CCA399512854KRT17c.219T>G (p.Phe73Leu)
c.-312-85T>G (n.-312-85T>G)
n.285T>G
n.6T>G
c.14T>G (p.Leu5Trp)
c.174T>G (p.Phe58Leu)
17g.41624291A>GCA399512856KRT17c.219T>C (p.Phe73=)
c.-312-85T>C (n.-312-85T>C)
n.285T>C
n.6T>C
c.14T>C (p.Leu5Ser)
c.174T>C (p.Phe58=)
17g.41624291A>TCA399512853KRT17c.219T>A (p.Phe73Leu)
c.-312-85T>A (n.-312-85T>A)
n.285T>A
n.6T>A
c.14T>A (p.Leu5Ter)
c.174T>A (p.Phe58Leu)
17g.41624293dupCA626215609KRT17c.219dup (p.Gly74TrpfsTer4)
c.-312-85dup (n.-312-85dup)
n.285dup
n.6dup
c.14dup (p.Leu5PhefsTer24)
c.174dup (p.Gly59TrpfsTer4)
 dbSNP gnomAD v2 gnomAD v4
17g.41624291_41624292insCCCAAACACACCCAACACCA2809496903KRT17c.218_219insGTGTTGGGTGTGTTTGGG (p.Phe73delinsLeuCysTrpValCysLeuGly)
c.-312-86_-312-85insGTGTTGGGTGTGTTTGGG (n.-312-86_-312-85insGTGTTGGGTGTGTTTGGG)
n.284_285insGTGTTGGGTGTGTTTGGG
n.5_6insGTGTTGGGTGTGTTTGGG
c.13_14insGTGTTGGGTGTGTTTGGG (p.Leu5delinsCysValGlyCysValTrpVal)
c.173_174insGTGTTGGGTGTGTTTGGG (p.Phe58delinsLeuCysTrpValCysLeuGly)
17g.41624292A>CCA399512858KRT17c.218T>G (p.Phe73Cys)
c.-312-86T>G (n.-312-86T>G)
n.284T>G
n.5T>G
c.13T>G (p.Leu5Val)
c.173T>G (p.Phe58Cys)
17g.41624292A>GCA399512861KRT17c.218T>C (p.Phe73Ser)
c.-312-86T>C (n.-312-86T>C)
n.284T>C
n.5T>C
c.13T>C (p.Leu5=)
c.173T>C (p.Phe58Ser)
17g.41624292A>TCA399512863KRT17c.218T>A (p.Phe73Tyr)
c.-312-86T>A (n.-312-86T>A)
n.284T>A
n.5T>A
c.13T>A (p.Leu5Met)
c.173T>A (p.Phe58Tyr)
17g.41624293A=CA2260105507KRT17c.217T= (p.Phe73=)
c.-312-87T= (n.-312-87T=)
n.283T=
n.4T=
c.12T= (p.Ala4=)
c.172T= (p.Phe58=)
17g.41624293A>CCA399512866KRT17c.217T>G (p.Phe73Val)
c.-312-87T>G (n.-312-87T>G)
n.283T>G
n.4T>G
c.12T>G (p.Ala4=)
c.172T>G (p.Phe58Val)
17g.41624293A>GCA399512869KRT17c.217T>C (p.Phe73Leu)
c.-312-87T>C (n.-312-87T>C)
n.283T>C
n.4T>C
c.12T>C (p.Ala4=)
c.172T>C (p.Phe58Leu)
17g.41624293A>TCA399512871KRT17c.217T>A (p.Phe73Ile)
c.-312-87T>A (n.-312-87T>A)
n.283T>A
n.4T>A
c.12T>A (p.Ala4=)
c.172T>A (p.Phe58Ile)
17g.41624294G>ACA399512880KRT17c.216C>T (p.Ser72=)
c.-312-88C>T (n.-312-88C>T)
n.282C>T
n.3C>T
c.11C>T (p.Ala4Val)
c.171C>T (p.Ser57=)
17g.41624294G>CCA399512878KRT17c.216C>G (p.Ser72Arg)
c.-312-88C>G (n.-312-88C>G)
n.282C>G
n.3C>G
c.11C>G (p.Ala4Gly)
c.171C>G (p.Ser57Arg)
17g.41624294G>TCA399512876KRT17c.216C>A (p.Ser72Arg)
c.-312-88C>A (n.-312-88C>A)
n.282C>A
n.3C>A
c.11C>A (p.Ala4Asp)
c.171C>A (p.Ser57Arg)
17g.41624294dupCA399512882KRT17c.216dup (p.Phe73LeufsTer5)
c.-312-88dup (n.-312-88dup)
n.282dup
n.3dup
c.11dup (p.Leu5PhefsTer24)
c.171dup (p.Phe58LeufsTer5)
 dbSNP
17g.41624299_41624301dupCA8563817KRT17c.214_216dup (p.Ser72_Phe73insSer)
c.-312-90_-312-88dup (n.-312-90_-312-88dup)
n.280_282dup
c.9_11dup (p.Ala4_Leu5insAla)
c.169_171dup (p.Ser57_Phe58insSer)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41624295C>ACA399512885KRT17c.215G>T (p.Ser72Ile)
c.-312-89G>T (n.-312-89G>T)
n.281G>T
n.2G>T
c.10G>T (p.Ala4Ser)
c.170G>T (p.Ser57Ile)
17g.41624295C>GCA399512886KRT17c.215G>C (p.Ser72Thr)
c.-312-89G>C (n.-312-89G>C)
n.281G>C
n.2G>C
c.10G>C (p.Ala4Pro)
c.170G>C (p.Ser57Thr)
17g.41624295C>TCA399512888KRT17c.215G>A (p.Ser72Asn)
c.-312-89G>A (n.-312-89G>A)
n.281G>A
n.2G>A
c.10G>A (p.Ala4Thr)
c.170G>A (p.Ser57Asn)
 gnomAD v4
17g.41624295_41624296delinsCTCA2260105508KRT17c.214_215delinsAG (p.Ser72=)
c.-312-90_-312-89delinsAG (n.-312-90_-312-89delinsAG)
n.280_281delinsAG
n.1_2delinsAG
c.9_10delinsAG (p.Ala3=)
c.169_170delinsAG (p.Ser57=)
17g.41624296delCA626215610KRT17c.214del (p.Ser72AlafsTer?)
c.-312-90del (n.-312-90del)
n.280del
n.1del
c.9del (p.Ala4LeufsTer5)
c.169del (p.Ser57AlafsTer?)
 dbSNP gnomAD v2
17g.41624296T>ACA399512893KRT17c.214A>T (p.Ser72Cys)
c.-312-90A>T (n.-312-90A>T)
n.280A>T
n.1A>T
c.9A>T (p.Ala3=)
c.169A>T (p.Ser57Cys)
17g.41624296T>CCA399512891KRT17c.214A>G (p.Ser72Gly)
c.-312-90A>G (n.-312-90A>G)
n.280A>G
n.1A>G
c.9A>G (p.Ala3=)
c.169A>G (p.Ser57Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.41624296T>GCA399512889KRT17c.214A>C (p.Ser72Arg)
c.-312-90A>C (n.-312-90A>C)
n.280A>C
n.1A>C
c.9A>C (p.Ala3=)
c.169A>C (p.Ser57Arg)
17g.41624296T=CA2260105509KRT17c.214A= (p.Ser72=)
c.-312-90A= (n.-312-90A=)
n.280A=
n.1A=
c.9A= (p.Ala3=)
c.169A= (p.Ser57=)
17g.41624297G>ACA399512896KRT17c.213C>T (p.Ser71=)
c.-312-91C>T (n.-312-91C>T)
n.279C>T
c.8C>T (p.Ala3Val)
c.168C>T (p.Ser56=)
17g.41624297G>CCA399512900KRT17c.213C>G (p.Ser71Arg)
c.-312-91C>G (n.-312-91C>G)
n.279C>G
c.8C>G (p.Ala3Gly)
c.168C>G (p.Ser56Arg)
 gnomAD v4
17g.41624297G=CA2260105510KRT17c.213C= (p.Ser71=)
c.-312-91C= (n.-312-91C=)
n.279C=
c.8C= (p.Ala3=)
c.168C= (p.Ser56=)
17g.41624297G>TCA8563818KRT17c.213C>A (p.Ser71Arg)
c.-312-91C>A (n.-312-91C>A)
n.279C>A
c.8C>A (p.Ala3Glu)
c.168C>A (p.Ser56Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41624298C>ACA399512902KRT17c.212G>T (p.Ser71Ile)
c.-312-92G>T (n.-312-92G>T)
n.278G>T
c.7G>T (p.Ala3Ser)
c.167G>T (p.Ser56Ile)
17g.41624298C>GCA399512906KRT17c.212G>C (p.Ser71Thr)
c.-312-92G>C (n.-312-92G>C)
n.278G>C
c.7G>C (p.Ala3Pro)
c.167G>C (p.Ser56Thr)
17g.41624298C>TCA399512904KRT17c.212G>A (p.Ser71Asn)
c.-312-92G>A (n.-312-92G>A)
n.278G>A
c.7G>A (p.Ala3Thr)
c.167G>A (p.Ser56Asn)
17g.41624299T>ACA399512909KRT17c.211A>T (p.Ser71Cys)
c.-312-93A>T (n.-312-93A>T)
n.277A>T
c.6A>T (p.Ala2=)
c.166A>T (p.Ser56Cys)
17g.41624299T>CCA399512911KRT17c.211A>G (p.Ser71Gly)
c.-312-93A>G (n.-312-93A>G)
n.277A>G
c.6A>G (p.Ala2=)
c.166A>G (p.Ser56Gly)
17g.41624299T>GCA399512912KRT17c.211A>C (p.Ser71Arg)
c.-312-93A>C (n.-312-93A>C)
n.277A>C
c.6A>C (p.Ala2=)
c.166A>C (p.Ser56Arg)
17g.41624300G>ACA399512914KRT17c.210C>T (p.Gly70=)
c.-312-94C>T (n.-312-94C>T)
n.276C>T
c.5C>T (p.Ala2Val)
c.165C>T (p.Gly55=)
 gnomAD v4
17g.41624300G>CCA399512915KRT17c.210C>G (p.Gly70=)
c.-312-94C>G (n.-312-94C>G)
n.276C>G
c.5C>G (p.Ala2Gly)
c.165C>G (p.Gly55=)
17g.41624300G>TCA399512916KRT17c.210C>A (p.Gly70=)
c.-312-94C>A (n.-312-94C>A)
n.276C>A
c.5C>A (p.Ala2Glu)
c.165C>A (p.Gly55=)
17g.41624301C>ACA399512919KRT17c.209G>T (p.Gly70Val)
c.-312-95G>T (n.-312-95G>T)
n.275G>T
c.4G>T (p.Ala2Ser)
c.164G>T (p.Gly55Val)
17g.41624301C>GCA399512921KRT17c.209G>C (p.Gly70Ala)
c.-312-95G>C (n.-312-95G>C)
n.275G>C
c.4G>C (p.Ala2Pro)
c.164G>C (p.Gly55Ala)
17g.41624301C>TCA399512923KRT17c.209G>A (p.Gly70Asp)
c.-312-95G>A (n.-312-95G>A)
n.275G>A
c.4G>A (p.Ala2Thr)
c.164G>A (p.Gly55Asp)
 COSMIC
17g.41624302C>ACA399512926KRT17c.208G>T (p.Gly70Cys)
c.-312-96G>T (n.-312-96G>T)
n.274G>T
c.3G>T (p.Met1Ile)
c.163G>T (p.Gly55Cys)
17g.41624302C=CA2260105511KRT17c.208G= (p.Gly70=)
c.-312-96G= (n.-312-96G=)
n.274G=
c.3G= (p.Met1=)
c.163G= (p.Gly55=)
17g.41624302C>GCA399512933KRT17c.208G>C (p.Gly70Arg)
c.-312-96G>C (n.-312-96G>C)
n.274G>C
c.3G>C (p.Met1Ile)
c.163G>C (p.Gly55Arg)
17g.41624302C>TCA399512934KRT17c.208G>A (p.Gly70Ser)
c.-312-96G>A (n.-312-96G>A)
n.274G>A
c.3G>A (p.Met1Ile)
c.163G>A (p.Gly55Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.41624303A>CCA399512937KRT17c.207T>G (p.Tyr69Ter)
c.-312-97T>G (n.-312-97T>G)
n.273T>G
c.2T>G (p.Met1Arg)
c.162T>G (p.Tyr54Ter)
17g.41624303A>GCA399512941KRT17c.207T>C (p.Tyr69=)
c.-312-97T>C (n.-312-97T>C)
n.273T>C
c.2T>C (p.Met1Thr)
c.162T>C (p.Tyr54=)
17g.41624303A>TCA399512939KRT17c.207T>A (p.Tyr69Ter)
c.-312-97T>A (n.-312-97T>A)
n.273T>A
c.2T>A (p.Met1Lys)
c.162T>A (p.Tyr54Ter)
17g.41624304T>ACA399512944KRT17c.206A>T (p.Tyr69Phe)
c.-312-98A>T (n.-312-98A>T)
n.272A>T
c.1A>T (p.Met1Leu)
c.161A>T (p.Tyr54Phe)
 dbSNP
17g.41624304T>CCA399512946KRT17c.206A>G (p.Tyr69Cys)
c.-312-98A>G (n.-312-98A>G)
n.272A>G
c.1A>G (p.Met1Val)
c.161A>G (p.Tyr54Cys)
 gnomAD v4
17g.41624304T>GCA399512948KRT17c.206A>C (p.Tyr69Ser)
c.-312-98A>C (n.-312-98A>C)
n.272A>C
c.1A>C (p.Met1Leu)
c.161A>C (p.Tyr54Ser)
17g.41624304T=CA2260105512KRT17c.206A= (p.Tyr69=)
c.-312-98A= (n.-312-98A=)
n.272A=
c.1A= (p.Met1=)
c.161A= (p.Tyr54=)
17g.41624305A>CCA399512951KRT17c.205T>G (p.Tyr69Asp)
c.-312-99T>G (n.-312-99T>G)
n.271T>G
c.-1T>G (n.-1T>G)
c.160T>G (p.Tyr54Asp)
17g.41624305A>GCA399512953KRT17c.205T>C (p.Tyr69His)
c.-312-99T>C (n.-312-99T>C)
n.271T>C
c.-1T>C (n.-1T>C)
c.160T>C (p.Tyr54His)
17g.41624305A>TCA399512955KRT17c.205T>A (p.Tyr69Asn)
c.-312-99T>A (n.-312-99T>A)
n.271T>A
c.-1T>A (n.-1T>A)
c.160T>A (p.Tyr54Asn)
17g.41624306G>ACA500206604KRT17c.204C>T (p.Gly68=)
c.-312-100C>T (n.-312-100C>T)
n.270C>T
c.-2C>T (n.-2C>T)
c.159C>T (p.Gly53=)
17g.41624306G>CCA500206606KRT17c.204C>G (p.Gly68=)
c.-312-100C>G (n.-312-100C>G)
n.270C>G
c.-2C>G (n.-2C>G)
c.159C>G (p.Gly53=)
17g.41624306G>TCA500206605KRT17c.204C>A (p.Gly68=)
c.-312-100C>A (n.-312-100C>A)
n.270C>A
c.-2C>A (n.-2C>A)
c.159C>A (p.Gly53=)
17g.41624307C>ACA399512959KRT17c.203G>T (p.Gly68Val)
c.-312-101G>T (n.-312-101G>T)
n.269G>T
c.-3G>T (n.-3G>T)
c.158G>T (p.Gly53Val)
17g.41624307C=CA2260105513KRT17c.203G= (p.Gly68=)
c.-312-101G= (n.-312-101G=)
n.269G=
c.-3G= (n.-3G=)
c.158G= (p.Gly53=)
17g.41624307C>GCA399512961KRT17c.203G>C (p.Gly68Ala)
c.-312-101G>C (n.-312-101G>C)
n.269G>C
c.-3G>C (n.-3G>C)
c.158G>C (p.Gly53Ala)
17g.41624307C>TCA8563819KRT17c.203G>A (p.Gly68Asp)
c.-312-101G>A (n.-312-101G>A)
n.269G>A
c.-3G>A (n.-3G>A)
c.158G>A (p.Gly53Asp)
 ClinVar dbSNP ExAC gnomAD v2
17g.41624308C>ACA399512970KRT17c.202G>T (p.Gly68Cys)
c.-312-102G>T (n.-312-102G>T)
n.268G>T
c.-4G>T (n.-4G>T)
c.157G>T (p.Gly53Cys)
17g.41624308C>GCA399512967KRT17c.202G>C (p.Gly68Arg)
c.-312-102G>C (n.-312-102G>C)
n.268G>C
c.-4G>C (n.-4G>C)
c.157G>C (p.Gly53Arg)
17g.41624308C>TCA399512966KRT17c.202G>A (p.Gly68Ser)
c.-312-102G>A (n.-312-102G>A)
n.268G>A
c.-4G>A (n.-4G>A)
c.157G>A (p.Gly53Ser)
17g.41624309A=CA2260105514KRT17c.201T= (p.Gly67=)
c.-312-103T= (n.-312-103T=)
n.267T=
c.-5T= (n.-5T=)
c.156T= (p.Gly52=)
17g.41624309A>CCA500206611KRT17c.201T>G (p.Gly67=)
c.-312-103T>G (n.-312-103T>G)
n.267T>G
c.-5T>G (n.-5T>G)
c.156T>G (p.Gly52=)
17g.41624309A>GCA500206608KRT17c.201T>C (p.Gly67=)
c.-312-103T>C (n.-312-103T>C)
n.267T>C
c.-5T>C (n.-5T>C)
c.156T>C (p.Gly52=)
 dbSNP gnomAD v3 gnomAD v4
17g.41624309A>TCA500206609KRT17c.201T>A (p.Gly67=)
c.-312-103T>A (n.-312-103T>A)
n.267T>A
c.-5T>A (n.-5T>A)
c.156T>A (p.Gly52=)
 dbSNP gnomAD v2 gnomAD v4
17g.41624310C>ACA399512976KRT17c.200G>T (p.Gly67Val)
c.-312-104G>T (n.-312-104G>T)
n.266G>T
c.-6G>T (n.-6G>T)
c.155G>T (p.Gly52Val)
 gnomAD v4
17g.41624310C>GCA399512979KRT17c.200G>C (p.Gly67Ala)
c.-312-104G>C (n.-312-104G>C)
n.266G>C
c.-6G>C (n.-6G>C)
c.155G>C (p.Gly52Ala)
17g.41624310C>TCA399512981KRT17c.200G>A (p.Gly67Asp)
c.-312-104G>A (n.-312-104G>A)
n.266G>A
c.-6G>A (n.-6G>A)
c.155G>A (p.Gly52Asp)
17g.41624311C>ACA399512983KRT17c.199G>T (p.Gly67Cys)
c.-312-105G>T (n.-312-105G>T)
n.265G>T
c.-7G>T (n.-7G>T)
c.154G>T (p.Gly52Cys)
17g.41624311C>GCA399512984KRT17c.199G>C (p.Gly67Arg)
c.-312-105G>C (n.-312-105G>C)
n.265G>C
c.-7G>C (n.-7G>C)
c.154G>C (p.Gly52Arg)
17g.41624311C>TCA399512986KRT17c.199G>A (p.Gly67Ser)
c.-312-105G>A (n.-312-105G>A)
n.265G>A
c.-7G>A (n.-7G>A)
c.154G>A (p.Gly52Ser)
17g.41624312A=CA2260105515KRT17c.198T= (p.Gly66=)
c.-312-106T= (n.-312-106T=)
n.264T=
c.-8T= (n.-8T=)
c.153T= (p.Gly51=)
17g.41624312A>CCA500206615KRT17c.198T>G (p.Gly66=)
c.-312-106T>G (n.-312-106T>G)
n.264T>G
c.-8T>G (n.-8T>G)
c.153T>G (p.Gly51=)
17g.41624312A>GCA8563820KRT17c.198T>C (p.Gly66=)
c.-312-106T>C (n.-312-106T>C)
n.264T>C
c.-8T>C (n.-8T>C)
c.153T>C (p.Gly51=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.41624312A>TCA500206618KRT17c.198T>A (p.Gly66=)
c.-312-106T>A (n.-312-106T>A)
n.264T>A
c.-8T>A (n.-8T>A)
c.153T>A (p.Gly51=)
 gnomAD v4
17g.41624313C>ACA399512993KRT17c.197G>T (p.Gly66Val)
c.-312-107G>T (n.-312-107G>T)
n.263G>T
c.-9G>T (n.-9G>T)
c.152G>T (p.Gly51Val)
17g.41624313C>GCA399512996KRT17c.197G>C (p.Gly66Ala)
c.-312-107G>C (n.-312-107G>C)
n.263G>C
c.-9G>C (n.-9G>C)
c.152G>C (p.Gly51Ala)
 gnomAD v4
17g.41624313C>TCA399513001KRT17c.197G>A (p.Gly66Asp)
c.-312-107G>A (n.-312-107G>A)
n.263G>A
c.-9G>A (n.-9G>A)
c.152G>A (p.Gly51Asp)
 gnomAD v4
17g.41624314C>ACA399513006KRT17c.196G>T (p.Gly66Cys)
c.-312-108G>T (n.-312-108G>T)
n.262G>T
c.-10G>T (n.-10G>T)
c.151G>T (p.Gly51Cys)
17g.41624314C=CA2260105516KRT17c.196G= (p.Gly66=)
c.-312-108G= (n.-312-108G=)
n.262G=
c.-10G= (n.-10G=)
c.151G= (p.Gly51=)
17g.41624314C>GCA399513008KRT17c.196G>C (p.Gly66Arg)
c.-312-108G>C (n.-312-108G>C)
n.262G>C
c.-10G>C (n.-10G>C)
c.151G>C (p.Gly51Arg)
17g.41624314C>TCA399513011KRT17c.196G>A (p.Gly66Ser)
c.-312-108G>A (n.-312-108G>A)
n.262G>A
c.-10G>A (n.-10G>A)
c.151G>A (p.Gly51Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.41624315A>CCA500206625KRT17c.195T>G (p.Ser65=)
c.-312-109T>G (n.-312-109T>G)
n.261T>G
c.-11T>G (n.-11T>G)
c.150T>G (p.Ser50=)
17g.41624315A>GCA500206626KRT17c.195T>C (p.Ser65=)
c.-312-109T>C (n.-312-109T>C)
n.261T>C
c.-11T>C (n.-11T>C)
c.150T>C (p.Ser50=)
17g.41624315A>TCA500206627KRT17c.195T>A (p.Ser65=)
c.-312-109T>A (n.-312-109T>A)
n.261T>A
c.-11T>A (n.-11T>A)
c.150T>A (p.Ser50=)
 gnomAD v4
17g.41624316G>ACA290686189KRT17c.194C>T (p.Ser65Phe)
c.-312-110C>T (n.-312-110C>T)
n.260C>T
c.-12C>T (n.-12C>T)
c.149C>T (p.Ser50Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.41624316G>CCA399513022KRT17c.194C>G (p.Ser65Cys)
c.-312-110C>G (n.-312-110C>G)
n.260C>G
c.-12C>G (n.-12C>G)
c.149C>G (p.Ser50Cys)
 dbSNP gnomAD v4
17g.41624316G=CA2260105517KRT17c.194C= (p.Ser65=)
c.-312-110C= (n.-312-110C=)
n.260C=
c.-12C= (n.-12C=)
c.149C= (p.Ser50=)
17g.41624316G>TCA399513018KRT17c.194C>A (p.Ser65Tyr)
c.-312-110C>A (n.-312-110C>A)
n.260C>A
c.-12C>A (n.-12C>A)
c.149C>A (p.Ser50Tyr)
17g.41624317A>CCA399513025KRT17c.193T>G (p.Ser65Ala)
c.-312-111T>G (n.-312-111T>G)
n.259T>G
c.-13T>G (n.-13T>G)
c.148T>G (p.Ser50Ala)
17g.41624317A>GCA399513028KRT17c.193T>C (p.Ser65Pro)
c.-312-111T>C (n.-312-111T>C)
n.259T>C
c.-13T>C (n.-13T>C)
c.148T>C (p.Ser50Pro)
17g.41624317A>TCA399513031KRT17c.193T>A (p.Ser65Thr)
c.-312-111T>A (n.-312-111T>A)
n.259T>A
c.-13T>A (n.-13T>A)
c.148T>A (p.Ser50Thr)
17g.41624318G>ACA500206630KRT17c.192C>T (p.Gly64=)
c.-312-112C>T (n.-312-112C>T)
n.258C>T
c.-14C>T (n.-14C>T)
c.147C>T (p.Gly49=)
17g.41624318G>CCA500206633KRT17c.192C>G (p.Gly64=)
c.-312-112C>G (n.-312-112C>G)
n.258C>G
c.-14C>G (n.-14C>G)
c.147C>G (p.Gly49=)
17g.41624318G>TCA500206632KRT17c.192C>A (p.Gly64=)
c.-312-112C>A (n.-312-112C>A)
n.258C>A
c.-14C>A (n.-14C>A)
c.147C>A (p.Gly49=)
17g.41624319C>ACA399513035KRT17c.191G>T (p.Gly64Val)
c.-312-113G>T (n.-312-113G>T)
n.257G>T
c.-15G>T (n.-15G>T)
c.146G>T (p.Gly49Val)
17g.41624319C>GCA399513036KRT17c.191G>C (p.Gly64Ala)
c.-312-113G>C (n.-312-113G>C)
n.257G>C
c.-15G>C (n.-15G>C)
c.146G>C (p.Gly49Ala)
17g.41624319C>TCA399513040KRT17c.191G>A (p.Gly64Asp)
c.-312-113G>A (n.-312-113G>A)
n.257G>A
c.-15G>A (n.-15G>A)
c.146G>A (p.Gly49Asp)
 COSMIC
17g.41624320dupCA2809496904KRT17c.191dup (p.Ser65LeufsTer13)
c.-312-113dup (n.-312-113dup)
n.257dup
c.-15dup (n.-15dup)
c.146dup (p.Ser50LeufsTer13)
17g.41624320C>ACA399513043KRT17c.190G>T (p.Gly64Cys)
c.-312-114G>T (n.-312-114G>T)
n.256G>T
c.-16G>T (n.-16G>T)
c.145G>T (p.Gly49Cys)
17g.41624320C>GCA399513049KRT17c.190G>C (p.Gly64Arg)
c.-312-114G>C (n.-312-114G>C)
n.256G>C
c.-16G>C (n.-16G>C)
c.145G>C (p.Gly49Arg)
17g.41624320C>TCA399513051KRT17c.190G>A (p.Gly64Ser)
c.-312-114G>A (n.-312-114G>A)
n.256G>A
c.-16G>A (n.-16G>A)
c.145G>A (p.Gly49Ser)
17g.41624321A=CA2260105518KRT17c.189T= (p.Phe63=)
c.-312-115T= (n.-312-115T=)
n.255T=
c.-17T= (n.-17T=)
c.144T= (p.Phe48=)
17g.41624321A>CCA399513054KRT17c.189T>G (p.Phe63Leu)
c.-312-115T>G (n.-312-115T>G)
n.255T>G
c.-17T>G (n.-17T>G)
c.144T>G (p.Phe48Leu)
17g.41624321A>GCA500206638KRT17c.189T>C (p.Phe63=)
c.-312-115T>C (n.-312-115T>C)
n.255T>C
c.-17T>C (n.-17T>C)
c.144T>C (p.Phe48=)
17g.41624321A>TCA399513061KRT17c.189T>A (p.Phe63Leu)
c.-312-115T>A (n.-312-115T>A)
n.255T>A
c.-17T>A (n.-17T>A)
c.144T>A (p.Phe48Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.41624322A>CCA399513063KRT17c.188T>G (p.Phe63Cys)
c.-312-116T>G (n.-312-116T>G)
n.254T>G
c.-18T>G (n.-18T>G)
c.143T>G (p.Phe48Cys)
17g.41624322A>GCA399513064KRT17c.188T>C (p.Phe63Ser)
c.-312-116T>C (n.-312-116T>C)
n.254T>C
c.-18T>C (n.-18T>C)
c.143T>C (p.Phe48Ser)
17g.41624322A>TCA399513062KRT17c.188T>A (p.Phe63Tyr)
c.-312-116T>A (n.-312-116T>A)
n.254T>A
c.-18T>A (n.-18T>A)
c.143T>A (p.Phe48Tyr)
17g.41624322_41624331delinsAAGCTGTAGCCA2260105519KRT17c.179_188delinsGCTACAGCTT (p.Cys60=)
c.-312-125_-312-116delinsGCTACAGCTT (n.-312-125_-312-116delinsGCTACAGCTT)
n.245_254delinsGCTACAGCTT
c.-27_-18delinsGCTACAGCTT (n.-27_-18delinsGCTACAGCTT)
c.134_143delinsGCTACAGCTT (p.Cys45=)
17g.41624323A>CCA399513068KRT17c.187T>G (p.Phe63Val)
c.-312-117T>G (n.-312-117T>G)
n.253T>G
c.-19T>G (n.-19T>G)
c.142T>G (p.Phe48Val)
17g.41624323A>GCA399513065KRT17c.187T>C (p.Phe63Leu)
c.-312-117T>C (n.-312-117T>C)
n.253T>C
c.-19T>C (n.-19T>C)
c.142T>C (p.Phe48Leu)
17g.41624323A>TCA399513067KRT17c.187T>A (p.Phe63Ile)
c.-312-117T>A (n.-312-117T>A)
n.253T>A
c.-19T>A (n.-19T>A)
c.142T>A (p.Phe48Ile)
17g.41624328_41624336delCA626215611KRT17c.179_187del (p.Cys60_Ser62del)
c.-312-125_-312-117del (n.-312-125_-312-117del)
n.245_253del
c.-27_-19del (n.-27_-19del)
c.134_142del (p.Cys45_Ser47del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.41624324G>ACA500206641KRT17c.186C>T (p.Ser62=)
c.-312-118C>T (n.-312-118C>T)
n.252C>T
c.-20C>T (n.-20C>T)
c.141C>T (p.Ser47=)
17g.41624324G>CCA8563821KRT17c.186C>G (p.Ser62Arg)
c.-312-118C>G (n.-312-118C>G)
n.252C>G
c.-20C>G (n.-20C>G)
c.141C>G (p.Ser47Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.41624324G=CA2260105520KRT17c.186C= (p.Ser62=)
c.-312-118C= (n.-312-118C=)
n.252C=
c.-20C= (n.-20C=)
c.141C= (p.Ser47=)
17g.41624324G>TCA399513074KRT17c.186C>A (p.Ser62Arg)
c.-312-118C>A (n.-312-118C>A)
n.252C>A
c.-20C>A (n.-20C>A)
c.141C>A (p.Ser47Arg)
 gnomAD v4
17g.41624325C>ACA399513077KRT17c.185G>T (p.Ser62Ile)
c.-312-119G>T (n.-312-119G>T)
n.251G>T
c.-21G>T (n.-21G>T)
c.140G>T (p.Ser47Ile)
 dbSNP gnomAD v3 gnomAD v4
17g.41624325C=CA2260105521KRT17c.185G= (p.Ser62=)
c.-312-119G= (n.-312-119G=)
n.251G=
c.-21G= (n.-21G=)
c.140G= (p.Ser47=)
17g.41624325C>GCA399513080KRT17c.185G>C (p.Ser62Thr)
c.-312-119G>C (n.-312-119G>C)
n.251G>C
c.-21G>C (n.-21G>C)
c.140G>C (p.Ser47Thr)
17g.41624325C>TCA399513083KRT17c.185G>A (p.Ser62Asn)
c.-312-119G>A (n.-312-119G>A)
n.251G>A
c.-21G>A (n.-21G>A)
c.140G>A (p.Ser47Asn)
 gnomAD v4
17g.41624326T>ACA8563822KRT17c.184A>T (p.Ser62Cys)
c.-312-120A>T (n.-312-120A>T)
n.250A>T
c.-22A>T (n.-22A>T)
c.139A>T (p.Ser47Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41624326T>CCA290686193KRT17c.184A>G (p.Ser62Gly)
c.-312-120A>G (n.-312-120A>G)
n.250A>G
c.-22A>G (n.-22A>G)
c.139A>G (p.Ser47Gly)
 dbSNP
17g.41624326T>GCA399513092KRT17c.184A>C (p.Ser62Arg)
c.-312-120A>C (n.-312-120A>C)
n.250A>C
c.-22A>C (n.-22A>C)
c.139A>C (p.Ser47Arg)
17g.41624326T=CA2260105522KRT17c.184A= (p.Ser62=)
c.-312-120A= (n.-312-120A=)
n.250A=
c.-22A= (n.-22A=)
c.139A= (p.Ser47=)
17g.41624327G>ACA500206645KRT17c.183C>T (p.Tyr61=)
c.-312-121C>T (n.-312-121C>T)
n.249C>T
c.-23C>T (n.-23C>T)
c.138C>T (p.Tyr46=)
 dbSNP gnomAD v4
17g.41624327G>CCA399513095KRT17c.183C>G (p.Tyr61Ter)
c.-312-121C>G (n.-312-121C>G)
n.249C>G
c.-23C>G (n.-23C>G)
c.138C>G (p.Tyr46Ter)
17g.41624327G=CA2260105523KRT17c.183C= (p.Tyr61=)
c.-312-121C= (n.-312-121C=)
n.249C=
c.-23C= (n.-23C=)
c.138C= (p.Tyr46=)
17g.41624327G>TCA399513097KRT17c.183C>A (p.Tyr61Ter)
c.-312-121C>A (n.-312-121C>A)
n.249C>A
c.-23C>A (n.-23C>A)
c.138C>A (p.Tyr46Ter)
17g.41624328T>ACA399513104KRT17c.182A>T (p.Tyr61Phe)
c.-312-122A>T (n.-312-122A>T)
n.248A>T
c.-24A>T (n.-24A>T)
c.137A>T (p.Tyr46Phe)
 dbSNP gnomAD v2
17g.41624328T>CCA8563823KRT17c.182A>G (p.Tyr61Cys)
c.-312-122A>G (n.-312-122A>G)
n.248A>G
c.-24A>G (n.-24A>G)
c.137A>G (p.Tyr46Cys)
 dbSNP ExAC
17g.41624328T>GCA399513101KRT17c.182A>C (p.Tyr61Ser)
c.-312-122A>C (n.-312-122A>C)
n.248A>C
c.-24A>C (n.-24A>C)
c.137A>C (p.Tyr46Ser)
17g.41624328T=CA2260105524KRT17c.182A= (p.Tyr61=)
c.-312-122A= (n.-312-122A=)
n.248A=
c.-24A= (n.-24A=)
c.137A= (p.Tyr46=)
17g.41624329A>CCA399513111KRT17c.181T>G (p.Tyr61Asp)
c.-312-123T>G (n.-312-123T>G)
n.247T>G
c.-25T>G (n.-25T>G)
c.136T>G (p.Tyr46Asp)
17g.41624329A>GCA399513115KRT17c.181T>C (p.Tyr61His)
c.-312-123T>C (n.-312-123T>C)
n.247T>C
c.-25T>C (n.-25T>C)
c.136T>C (p.Tyr46His)
17g.41624329A>TCA399513118KRT17c.181T>A (p.Tyr61Asn)
c.-312-123T>A (n.-312-123T>A)
n.247T>A
c.-25T>A (n.-25T>A)
c.136T>A (p.Tyr46Asn)
17g.41624330G>ACA500206649KRT17c.180C>T (p.Cys60=)
c.-312-124C>T (n.-312-124C>T)
n.246C>T
c.-26C>T (n.-26C>T)
c.135C>T (p.Cys45=)
 gnomAD v4
17g.41624330G>CCA399513120KRT17c.180C>G (p.Cys60Trp)
c.-312-124C>G (n.-312-124C>G)
n.246C>G
c.-26C>G (n.-26C>G)
c.135C>G (p.Cys45Trp)
17g.41624330G>TCA399513125KRT17c.180C>A (p.Cys60Ter)
c.-312-124C>A (n.-312-124C>A)
n.246C>A
c.-26C>A (n.-26C>A)
c.135C>A (p.Cys45Ter)
17g.41624331C>ACA399513135KRT17c.179G>T (p.Cys60Phe)
c.-312-125G>T (n.-312-125G>T)
n.245G>T
c.-27G>T (n.-27G>T)
c.134G>T (p.Cys45Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.41624331C=CA2260105525KRT17c.179G= (p.Cys60=)
c.-312-125G= (n.-312-125G=)
n.245G=
c.-27G= (n.-27G=)
c.134G= (p.Cys45=)
17g.41624331C>GCA8563824KRT17c.179G>C (p.Cys60Ser)
c.-312-125G>C (n.-312-125G>C)
n.245G>C
c.-27G>C (n.-27G>C)
c.134G>C (p.Cys45Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41624331C>TCA399513132KRT17c.179G>A (p.Cys60Tyr)
c.-312-125G>A (n.-312-125G>A)
n.245G>A
c.-27G>A (n.-27G>A)
c.134G>A (p.Cys45Tyr)
17g.41624332A=CA2260105526KRT17c.178T= (p.Cys60=)
c.-312-126T= (n.-312-126T=)
n.244T=
c.-28T= (n.-28T=)
c.133T= (p.Cys45=)
17g.41624332A>CCA399513140KRT17c.178T>G (p.Cys60Gly)
c.-312-126T>G (n.-312-126T>G)
n.244T>G
c.-28T>G (n.-28T>G)
c.133T>G (p.Cys45Gly)
17g.41624332A>GCA399513142KRT17c.178T>C (p.Cys60Arg)
c.-312-126T>C (n.-312-126T>C)
n.244T>C
c.-28T>C (n.-28T>C)
c.133T>C (p.Cys45Arg)
 gnomAD v4
17g.41624332A>TCA399513148KRT17c.178T>A (p.Cys60Ser)
c.-312-126T>A (n.-312-126T>A)
n.244T>A
c.-28T>A (n.-28T>A)
c.133T>A (p.Cys45Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched