Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52492642G>ACA2618930574KRT6Ac.540+7C>T (n.540+7C>T)
n.61+7C>T
gnomAD v4
12g.52492643G>CCA2618930577KRT6Ac.540+6C>G (n.540+6C>G)
n.61+6C>G
gnomAD v4
12g.52492644C>GCA2618930591KRT6Ac.540+5G>C (n.540+5G>C)
n.61+5G>C
gnomAD v4
12g.52492645T>CCA2618930592KRT6Ac.540+4A>G (n.540+4A>G)
n.61+4A>G
gnomAD v4
12g.52492646C=CA2036522718KRT6Ac.540+3G= (n.540+3G=)
n.61+3G=
12g.52492646C>TCA605240568KRT6Ac.540+3G>A (n.540+3G>A)
n.61+3G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492647A>CCA384963131KRT6Ac.540+2T>G (n.540+2T>G)
n.61+2T>G
12g.52492647A>GCA384963132KRT6Ac.540+2T>C (n.540+2T>C)
n.61+2T>C
gnomAD v4
12g.52492647A>TCA384963133KRT6Ac.540+2T>A (n.540+2T>A)
n.61+2T>A
12g.52492648C>ACA384963139KRT6Ac.540+1G>T (n.540+1G>T)
n.61+1G>T
dbSNP gnomAD v4
12g.52492648C=CA2036522719KRT6Ac.540+1G= (n.540+1G=)
n.61+1G=
12g.52492648C>GCA384963143KRT6Ac.540+1G>C (n.540+1G>C)
n.61+1G>C
12g.52492648C>TCA384963144KRT6Ac.540+1G>A (n.540+1G>A)
n.61+1G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492649C>ACA384963146KRT6Ac.540G>T (p.Lys180Asn)
n.61G>T
12g.52492649C>GCA384963145KRT6Ac.540G>C (p.Lys180Asn)
n.61G>C
12g.52492649C>TCA480069773KRT6Ac.540G>A (p.Lys180=)
n.61G>A
gnomAD v4
12g.52492650T>ACA384963148KRT6Ac.539A>T (p.Lys180Met)
n.60A>T
12g.52492650T>CCA384963149KRT6Ac.539A>G (p.Lys180Arg)
n.60A>G
dbSNP
12g.52492650T>GCA384963150KRT6Ac.539A>C (p.Lys180Thr)
n.60A>C
12g.52492650T=CA2036522720KRT6Ac.539A= (p.Lys180=)
n.60A=
12g.52492651delCA2618930619KRT6Ac.539del (p.Lys180ArgfsTer27)
n.60del
gnomAD v4
12g.52492651T>ACA384963151KRT6Ac.538A>T (p.Lys180Ter)
n.59A>T
12g.52492651T>CCA384963152KRT6Ac.538A>G (p.Lys180Glu)
n.59A>G
12g.52492651T>GCA384963154KRT6Ac.538A>C (p.Lys180Gln)
n.59A>C
12g.52492652G>ACA6582243KRT6Ac.537C>T (p.Asp179=)
n.58C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492652G>CCA384963158KRT6Ac.537C>G (p.Asp179Glu)
n.58C>G
12g.52492652G=CA2036522721KRT6Ac.537C= (p.Asp179=)
n.58C=
12g.52492652G>TCA384963162KRT6Ac.537C>A (p.Asp179Glu)
n.58C>A
12g.52492653T>ACA384963169KRT6Ac.536A>T (p.Asp179Val)
n.57A>T
gnomAD v4
12g.52492653T>CCA384963177KRT6Ac.536A>G (p.Asp179Gly)
n.57A>G
dbSNP gnomAD v4
12g.52492653T>GCA384963181KRT6Ac.536A>C (p.Asp179Ala)
n.57A>C
12g.52492653T=CA2036522722KRT6Ac.536A= (p.Asp179=)
n.57A=
12g.52492654C>ACA384963187KRT6Ac.535G>T (p.Asp179Tyr)
n.56G>T
12g.52492654C=CA2036522723KRT6Ac.535G= (p.Asp179=)
n.56G=
12g.52492654C>GCA384963191KRT6Ac.535G>C (p.Asp179His)
n.56G>C
dbSNP gnomAD v4
12g.52492654C>TCA384963186KRT6Ac.535G>A (p.Asp179Asn)
n.56G>A
gnomAD v4
12g.52492655G>ACA6582244KRT6Ac.534C>T (p.Ile178=)
n.55C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52492655G>CCA384963199KRT6Ac.534C>G (p.Ile178Met)
n.55C>G
12g.52492655G=CA2036522724KRT6Ac.534C= (p.Ile178=)
n.55C=
12g.52492655G>TCA480069781KRT6Ac.534C>A (p.Ile178=)
n.55C>A
gnomAD v4
12g.52492656A=CA2036522725KRT6Ac.533T= (p.Ile178=)
n.54T=
12g.52492656A>CCA384963202KRT6Ac.533T>G (p.Ile178Ser)
n.54T>G
12g.52492656A>GCA384963214KRT6Ac.533T>C (p.Ile178Thr)
n.54T>C
12g.52492656A>TCA217361KRT6Ac.533T>A (p.Ile178Asn)
n.54T>A
ClinVar dbSNP
12g.52492657T>ACA384963220KRT6Ac.532A>T (p.Ile178Phe)
n.53A>T
12g.52492657T>CCA384963223KRT6Ac.532A>G (p.Ile178Val)
n.53A>G
12g.52492657T>GCA384963229KRT6Ac.532A>C (p.Ile178Leu)
n.53A>C
12g.52492657_52492660delinsTGAACA2036522726KRT6Ac.529_532delinsTTCA (p.Phe177=)
n.50_53delinsTTCA
12g.52492658G>ACA480069785KRT6Ac.531C>T (p.Phe177=)
n.52C>T
12g.52492658G>CCA384963235KRT6Ac.531C>G (p.Phe177Leu)
n.52C>G
12g.52492658G>TCA384963242KRT6Ac.531C>A (p.Phe177Leu)
n.52C>A
12g.52492659_52492661delCA16619572KRT6Ac.529_531del (p.Phe177del)
n.50_52del
ClinVar dbSNP
12g.52492659A>CCA384963244KRT6Ac.530T>G (p.Phe177Cys)
n.51T>G
12g.52492659A>GCA384963248KRT6Ac.530T>C (p.Phe177Ser)
n.51T>C
12g.52492659A>TCA384963249KRT6Ac.530T>A (p.Phe177Tyr)
n.51T>A
12g.52492660A=CA2036522727KRT6Ac.529T= (p.Phe177=)
n.50T=
12g.52492660A>CCA384963253KRT6Ac.529T>G (p.Phe177Val)
n.50T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492660A>GCA384963252KRT6Ac.529T>C (p.Phe177Leu)
n.50T>C
12g.52492660A>TCA384963251KRT6Ac.529T>A (p.Phe177Ile)
n.50T>A
12g.52492661G>ACA6582245KRT6Ac.528C>T (p.Ser176=)
n.49C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492661G>CCA480069789KRT6Ac.528C>G (p.Ser176=)
n.49C>G
12g.52492661G=CA2036522728KRT6Ac.528C= (p.Ser176=)
n.49C=
12g.52492661G>TCA480069790KRT6Ac.528C>A (p.Ser176=)
n.49C>A
12g.52492662G>ACA384963255KRT6Ac.527C>T (p.Ser176Phe)
n.48C>T
12g.52492662G>CCA384963257KRT6Ac.527C>G (p.Ser176Cys)
n.48C>G
12g.52492662G>TCA384963263KRT6Ac.527C>A (p.Ser176Tyr)
n.48C>A
12g.52492663A=CA2036522729KRT6Ac.526T= (p.Ser176=)
n.47T=
12g.52492663A>CCA384963273KRT6Ac.526T>G (p.Ser176Ala)
n.47T>G
gnomAD v4
12g.52492663A>GCA217360KRT6Ac.526T>C (p.Ser176Pro)
n.47T>C
ClinVar dbSNP COSMIC
12g.52492663A>TCA384963275KRT6Ac.526T>A (p.Ser176Thr)
n.47T>A
12g.52492664G>ACA480069793KRT6Ac.525C>T (p.Ala175=)
n.46C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492664G>CCA480069794KRT6Ac.525C>G (p.Ala175=)
n.46C>G
12g.52492664G=CA2036522730KRT6Ac.525C= (p.Ala175=)
n.46C=
12g.52492664G>TCA480069795KRT6Ac.525C>A (p.Ala175=)
n.46C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492665G>ACA384963276KRT6Ac.524C>T (p.Ala175Val)
n.45C>T
COSMIC
12g.52492665G>CCA384963277KRT6Ac.524C>G (p.Ala175Gly)
n.45C>G
12g.52492665G>TCA384963278KRT6Ac.524C>A (p.Ala175Asp)
n.45C>A
gnomAD v4
12g.52492666C>ACA384963282KRT6Ac.523G>T (p.Ala175Ser)
n.44G>T
gnomAD v4
12g.52492666C>GCA384963285KRT6Ac.523G>C (p.Ala175Pro)
n.44G>C
12g.52492666C>TCA384963289KRT6Ac.523G>A (p.Ala175Thr)
n.44G>A
12g.52492667A>CCA384963293KRT6Ac.522T>G (p.Phe174Leu)
n.43T>G
12g.52492667A>GCA480069801KRT6Ac.522T>C (p.Phe174=)
n.43T>C
12g.52492667A>TCA384963294KRT6Ac.522T>A (p.Phe174Leu)
n.43T>A
12g.52492668A=CA2036522731KRT6Ac.521T= (p.Phe174=)
n.42T=
12g.52492668A>CCA217359KRT6Ac.521T>G (p.Phe174Cys)
n.42T>G
ClinVar dbSNP gnomAD v4
12g.52492668A>GCA170746KRT6Ac.521T>C (p.Phe174Ser)
n.42T>C
ClinVar dbSNP
12g.52492668A>TCA384963297KRT6Ac.521T>A (p.Phe174Tyr)
n.42T>A
gnomAD v4
12g.52492669A=CA2036522732KRT6Ac.520T= (p.Phe174=)
n.41T=
12g.52492669A>CCA124168KRT6Ac.520T>G (p.Phe174Val)
n.41T>G
ClinVar dbSNP gnomAD v4
12g.52492669A>GCA6582246KRT6Ac.520T>C (p.Phe174Leu)
n.41T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492669A>TCA384963301KRT6Ac.520T>A (p.Phe174Ile)
n.41T>A
12g.52492670C>ACA384963302KRT6Ac.519G>T (p.Lys173Asn)
n.40G>T
gnomAD v4
12g.52492670C>GCA384963304KRT6Ac.519G>C (p.Lys173Asn)
n.40G>C
12g.52492670C>TCA480069810KRT6Ac.519G>A (p.Lys173=)
n.40G>A
gnomAD v4
12g.52492670_52492673delinsCTTGCA2036522733KRT6Ac.516_519delinsCAAG (p.Asn172=)
n.37_40delinsCAAG
12g.52492671T>ACA384963310KRT6Ac.518A>T (p.Lys173Met)
n.39A>T
12g.52492671T>CCA384963312KRT6Ac.518A>G (p.Lys173Arg)
n.39A>G
12g.52492671T>GCA384963314KRT6Ac.518A>C (p.Lys173Thr)
n.39A>C
12g.52492671_52492673delinsGTTCA237234859KRT6Ac.516_518delinsAAC (p.Asn172_Lys173delinsLysThr)
n.37_39delinsAAC
12g.52492677_52492679delCA217357KRT6Ac.516_518del (p.Asn172del)
n.37_39del
ClinVar dbSNP
12g.52492672T>ACA384963329KRT6Ac.517A>T (p.Lys173Ter)
n.38A>T
12g.52492672T>CCA384963330KRT6Ac.517A>G (p.Lys173Glu)
n.38A>G
12g.52492672T>GCA384963331KRT6Ac.517A>C (p.Lys173Gln)
n.38A>C
12g.52492673G>ACA480069814KRT6Ac.516C>T (p.Asn172=)
n.37C>T
12g.52492673G>CCA384963332KRT6Ac.516C>G (p.Asn172Lys)
n.37C>G
12g.52492673G>TCA384963333KRT6Ac.516C>A (p.Asn172Lys)
n.37C>A
12g.52492674T>ACA384963339KRT6Ac.515A>T (p.Asn172Ile)
n.36A>T
12g.52492674T>CCA384963345KRT6Ac.515A>G (p.Asn172Ser)
n.36A>G
dbSNP gnomAD v2 gnomAD v4
12g.52492674T>GCA384963347KRT6Ac.515A>C (p.Asn172Thr)
n.36A>C
12g.52492674T=CA2036522734KRT6Ac.515A= (p.Asn172=)
n.36A=
12g.52492675T>ACA384963355KRT6Ac.514A>T (p.Asn172Tyr)
n.35A>T
12g.52492675T>CCA384963358KRT6Ac.514A>G (p.Asn172Asp)
n.35A>G
12g.52492675T>GCA384963367KRT6Ac.514A>C (p.Asn172His)
n.35A>C
12g.52492676G>ACA480069818KRT6Ac.513C>T (p.Asn171=)
n.34C>T
gnomAD v4
12g.52492676G>CCA384963368KRT6Ac.513C>G (p.Asn171Lys)
n.34C>G
12g.52492676G=CA2036522735KRT6Ac.513C= (p.Asn171=)
n.34C=
12g.52492676G>TCA217356KRT6Ac.513C>A (p.Asn171Lys)
n.34C>A
ClinVar dbSNP
12g.52492677T>ACA384963375KRT6Ac.512A>T (p.Asn171Ile)
n.33A>T
12g.52492677T>CCA217355KRT6Ac.512A>G (p.Asn171Ser)
n.33A>G
ClinVar dbSNP
12g.52492677T>GCA217353KRT6Ac.512A>C (p.Asn171Thr)
n.33A>C
ClinVar dbSNP
12g.52492677T=CA2036522736KRT6Ac.512A= (p.Asn171=)
n.33A=
12g.52492678T>ACA217352KRT6Ac.511A>T (p.Asn171Tyr)
n.32A>T
ClinVar dbSNP
12g.52492678T>CCA217351KRT6Ac.511A>G (p.Asn171Asp)
n.32A>G
ClinVar dbSNP
12g.52492678T>GCA16619573KRT6Ac.511A>C (p.Asn171His)
n.32A>C
ClinVar dbSNP
12g.52492678T=CA2036522737KRT6Ac.511A= (p.Asn171=)
n.32A=
12g.52492679G>ACA480069822KRT6Ac.510C>T (p.Leu170=)
n.31C>T
dbSNP gnomAD v2 gnomAD v4
12g.52492679G>CCA480069823KRT6Ac.510C>G (p.Leu170=)
n.31C>G
12g.52492679G=CA2036522738KRT6Ac.510C= (p.Leu170=)
n.31C=
12g.52492679G>TCA480069824KRT6Ac.510C>A (p.Leu170=)
n.31C>A
12g.52492680A>CCA384963387KRT6Ac.509T>G (p.Leu170Arg)
n.30T>G
12g.52492680A>GCA384963388KRT6Ac.509T>C (p.Leu170Pro)
n.30T>C
12g.52492680A>TCA384963390KRT6Ac.509T>A (p.Leu170His)
n.30T>A
12g.52492681G>ACA217350KRT6Ac.508C>T (p.Leu170Phe)
n.29C>T
ClinVar dbSNP
12g.52492681G>CCA384963392KRT6Ac.508C>G (p.Leu170Val)
n.29C>G
12g.52492681G=CA2036522739KRT6Ac.508C= (p.Leu170=)
n.29C=
12g.52492681G>TCA384963394KRT6Ac.508C>A (p.Leu170Ile)
n.29C>A
12g.52492682G>ACA480069825KRT6Ac.507C>T (p.Thr169=)
n.28C>T
dbSNP
12g.52492682G>CCA480069828KRT6Ac.507C>G (p.Thr169=)
n.28C>G
dbSNP gnomAD v3 gnomAD v4
12g.52492682G=CA2036522740KRT6Ac.507C= (p.Thr169=)
n.28C=
12g.52492682G>TCA480069826KRT6Ac.507C>A (p.Thr169=)
n.28C>A
12g.52492683G>ACA384963402KRT6Ac.506C>T (p.Thr169Ile)
n.27C>T
dbSNP gnomAD v2
12g.52492683G>CCA384963399KRT6Ac.506C>G (p.Thr169Ser)
n.27C>G
12g.52492683G=CA2036522741KRT6Ac.506C= (p.Thr169=)
n.27C=
12g.52492683G>TCA384963400KRT6Ac.506C>A (p.Thr169Asn)
n.27C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492684T>ACA384963403KRT6Ac.505A>T (p.Thr169Ser)
n.26A>T
12g.52492684T>CCA384963404KRT6Ac.505A>G (p.Thr169Ala)
n.26A>G
12g.52492684T>GCA384963405KRT6Ac.505A>C (p.Thr169Pro)
n.26A>C
12g.52492685C>ACA384963407KRT6Ac.504G>T (p.Lys168Asn)
n.25G>T
12g.52492685C>GCA384963410KRT6Ac.504G>C (p.Lys168Asn)
n.25G>C
12g.52492685C>TCA480069833KRT6Ac.504G>A (p.Lys168=)
n.25G>A
12g.52492686T>ACA384963413KRT6Ac.503A>T (p.Lys168Met)
n.24A>T
12g.52492686T>CCA384963419KRT6Ac.503A>G (p.Lys168Arg)
n.24A>G
gnomAD v4
12g.52492686T>GCA384963415KRT6Ac.503A>C (p.Lys168Thr)
n.24A>C
12g.52492687T>ACA384963427KRT6Ac.502A>T (p.Lys168Ter)
n.23A>T
12g.52492687T>CCA384963444KRT6Ac.502A>G (p.Lys168Glu)
n.23A>G
dbSNP gnomAD v4
12g.52492687T>GCA384963453KRT6Ac.502A>C (p.Lys168Gln)
n.23A>C
12g.52492688G>ACA480069835KRT6Ac.501C>T (p.Ile167=)
n.22C>T
12g.52492688G>CCA384963454KRT6Ac.501C>G (p.Ile167Met)
n.22C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492688G=CA2036522742KRT6Ac.501C= (p.Ile167=)
n.22C=
12g.52492688G>TCA480069837KRT6Ac.501C>A (p.Ile167=)
n.22C>A
COSMIC
12g.52492689A=CA2036522743KRT6Ac.500T= (p.Ile167=)
n.21T=
12g.52492689A>CCA217348KRT6Ac.500T>G (p.Ile167Ser)
n.21T>G
ClinVar dbSNP
12g.52492689A>GCA384963459KRT6Ac.500T>C (p.Ile167Thr)
n.21T>C
12g.52492689A>TCA217347KRT6Ac.500T>A (p.Ile167Asn)
n.21T>A
ClinVar dbSNP
12g.52492690T>ACA384963480KRT6Ac.499A>T (p.Ile167Phe)
n.20A>T
12g.52492690T>CCA384963483KRT6Ac.499A>G (p.Ile167Val)
n.20A>G
12g.52492690T>GCA384963487KRT6Ac.499A>C (p.Ile167Leu)
n.20A>C
12g.52492691C>ACA384963493KRT6Ac.498G>T (p.Gln166His)
n.19G>T
12g.52492691C>GCA384963499KRT6Ac.498G>C (p.Gln166His)
n.19G>C
12g.52492691C>TCA480069840KRT6Ac.498G>A (p.Gln166=)
n.19G>A
12g.52492692T>ACA384963501KRT6Ac.497A>T (p.Gln166Leu)
n.18A>T
12g.52492692T>CCA384963502KRT6Ac.497A>G (p.Gln166Arg)
n.18A>G
dbSNP gnomAD v2 gnomAD v4
12g.52492692T>GCA217346KRT6Ac.497A>C (p.Gln166Pro)
n.18A>C
ClinVar dbSNP
12g.52492692T=CA2036522744KRT6Ac.497A= (p.Gln166=)
n.18A=
12g.52492693G>ACA384963517KRT6Ac.496C>T (p.Gln166Ter)
n.17C>T
gnomAD v4
12g.52492693G>CCA384963505KRT6Ac.496C>G (p.Gln166Glu)
n.17C>G
12g.52492693G>TCA384963511KRT6Ac.496C>A (p.Gln166Lys)
n.17C>A
12g.52492694T>ACA384963522KRT6Ac.495A>T (p.Glu165Asp)
n.16A>T
12g.52492694T>CCA6582247KRT6Ac.495A>G (p.Glu165=)
n.16A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492694T>GCA384963527KRT6Ac.495A>C (p.Glu165Asp)
n.16A>C
dbSNP
12g.52492694T=CA2036522745KRT6Ac.495A= (p.Glu165=)
n.16A=
12g.52492695T>ACA384963540KRT6Ac.494A>T (p.Glu165Val)
n.15A>T
12g.52492695T>CCA384963539KRT6Ac.494A>G (p.Glu165Gly)
n.15A>G
gnomAD v4
12g.52492695T>GCA384963538KRT6Ac.494A>C (p.Glu165Ala)
n.15A>C
12g.52492696C>ACA384963541KRT6Ac.493G>T (p.Glu165Ter)
n.14G>T
12g.52492696C=CA2036522746KRT6Ac.493G= (p.Glu165=)
n.14G=
12g.52492696C>GCA384963542KRT6Ac.493G>C (p.Glu165Gln)
n.14G>C
12g.52492696C>TCA6582248KRT6Ac.493G>A (p.Glu165Lys)
n.14G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52492697A>CCA480069848KRT6Ac.492T>G (p.Arg164=)
n.13T>G
12g.52492697A>GCA480069849KRT6Ac.492T>C (p.Arg164=)
n.13T>C
12g.52492697A>TCA480069850KRT6Ac.492T>A (p.Arg164=)
n.13T>A
12g.52492698C>ACA384963548KRT6Ac.491G>T (p.Arg164Leu)
n.12G>T
12g.52492698C=CA2036522747KRT6Ac.491G= (p.Arg164=)
n.12G=
12g.52492698C>GCA217345KRT6Ac.491G>C (p.Arg164Pro)
n.12G>C
ClinVar dbSNP gnomAD v4
12g.52492698C>TCA6582249KRT6Ac.491G>A (p.Arg164His)
n.12G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492699G>ACA384963552KRT6Ac.490C>T (p.Arg164Cys)
n.11C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492699G>CCA384963550KRT6Ac.490C>G (p.Arg164Gly)
n.11C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492699G=CA2036522748KRT6Ac.490C= (p.Arg164=)
n.11C=
12g.52492699G>TCA384963551KRT6Ac.490C>A (p.Arg164Ser)
n.11C>A
gnomAD v4
12g.52492700C>ACA384963554KRT6Ac.489G>T (p.Glu163Asp)
n.10G>T
12g.52492700C=CA2036522749KRT6Ac.489G= (p.Glu163=)
n.10G=
12g.52492700C>GCA384963556KRT6Ac.489G>C (p.Glu163Asp)
n.10G>C
12g.52492700C>TCA480069854KRT6Ac.489G>A (p.Glu163=)
n.10G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492701T>ACA384963574KRT6Ac.488A>T (p.Glu163Val)
n.9A>T
12g.52492701T>CCA384963576KRT6Ac.488A>G (p.Glu163Gly)
n.9A>G
12g.52492701T>GCA384963579KRT6Ac.488A>C (p.Glu163Ala)
n.9A>C
12g.52492702C>ACA384963582KRT6Ac.487G>T (p.Glu163Ter)
n.8G>T
12g.52492702C=CA2036522750KRT6Ac.487G= (p.Glu163=)
n.8G=
12g.52492702C>GCA384963584KRT6Ac.487G>C (p.Glu163Gln)
n.8G>C
12g.52492702C>TCA217343KRT6Ac.487G>A (p.Glu163Lys)
n.8G>A
ClinVar dbSNP
12g.52492703C>ACA384963589KRT6Ac.486G>T (p.Glu162Asp)
n.7G>T
12g.52492703C>GCA384963595KRT6Ac.486G>C (p.Glu162Asp)
n.7G>C
12g.52492703C>TCA480069857KRT6Ac.486G>A (p.Glu162=)
n.7G>A
12g.52492704T>ACA384963598KRT6Ac.485A>T (p.Glu162Val)
n.6A>T
12g.52492704T>CCA384963600KRT6Ac.485A>G (p.Glu162Gly)
n.6A>G
12g.52492704T>GCA384963602KRT6Ac.485A>C (p.Glu162Ala)
n.6A>C
12g.52492705C>ACA384963616KRT6Ac.484G>T (p.Glu162Ter)
n.5G>T
12g.52492705C=CA2036522751KRT6Ac.484G= (p.Glu162=)
n.5G=
12g.52492705C>GCA384963604KRT6Ac.484G>C (p.Glu162Gln)
n.5G>C
12g.52492705C>TCA384963606KRT6Ac.484G>A (p.Glu162Lys)
n.5G>A
dbSNP gnomAD v2 gnomAD v4
12g.52492706A=CA2036522752KRT6Ac.483T= (p.Ala161=)
n.4T=
12g.52492706A>CCA480069861KRT6Ac.483T>G (p.Ala161=)
n.4T>G
12g.52492706A>GCA6582250KRT6Ac.483T>C (p.Ala161=)
n.4T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492706A>TCA480069862KRT6Ac.483T>A (p.Ala161=)
n.4T>A
dbSNP gnomAD v2 gnomAD v4
12g.52492707G>ACA384963620KRT6Ac.482C>T (p.Ala161Val)
n.3C>T
dbSNP
12g.52492707G>CCA384963621KRT6Ac.482C>G (p.Ala161Gly)
n.3C>G
12g.52492707G=CA2036522753KRT6Ac.482C= (p.Ala161=)
n.3C=
12g.52492707G>TCA384963622KRT6Ac.482C>A (p.Ala161Asp)
n.3C>A
12g.52492708C>ACA384963625KRT6Ac.481G>T (p.Ala161Ser)
n.2G>T
12g.52492708C>GCA384963627KRT6Ac.481G>C (p.Ala161Pro)
n.2G>C
12g.52492708C>TCA384963631KRT6Ac.481G>A (p.Ala161Thr)
n.2G>A
gnomAD v4
12g.52492709C>ACA6582251KRT6Ac.480G>T (p.Arg160=)
n.1G>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52492709C=CA2036522754KRT6Ac.480G= (p.Arg160=)
n.1G=
12g.52492709C>GCA480069863KRT6Ac.480G>C (p.Arg160=)
n.1G>C
12g.52492709C>TCA480069864KRT6Ac.480G>A (p.Arg160=)
n.1G>A
12g.52492710C>ACA384963646KRT6Ac.479G>T (p.Arg160Leu)
12g.52492710C=CA2036522755KRT6Ac.479G= (p.Arg160=)
12g.52492710C>GCA384963648KRT6Ac.479G>C (p.Arg160Pro)
12g.52492710C>TCA6582252KRT6Ac.479G>A (p.Arg160Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492711G>ACA384963651KRT6Ac.478C>T (p.Arg160Trp)
dbSNP gnomAD v2 gnomAD v4
12g.52492711G>CCA384963653KRT6Ac.478C>G (p.Arg160Gly)
12g.52492711G=CA2036522756KRT6Ac.478C= (p.Arg160=)
12g.52492711G>TCA480069865KRT6Ac.478C>A (p.Arg160=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.52492712C>ACA6582253KRT6Ac.477G>T (p.Val159=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52492712C=CA2036522757KRT6Ac.477G= (p.Val159=)
12g.52492712C>GCA480069868KRT6Ac.477G>C (p.Val159=)
12g.52492712C>TCA480069866KRT6Ac.477G>A (p.Val159=)
dbSNP
12g.52492713A>CCA384963685KRT6Ac.476T>G (p.Val159Gly)
12g.52492713A>GCA384963663KRT6Ac.476T>C (p.Val159Ala)
12g.52492713A>TCA384963682KRT6Ac.476T>A (p.Val159Glu)
12g.52492714C>ACA6582254KRT6Ac.475G>T (p.Val159Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52492714C=CA2036522758KRT6Ac.475G= (p.Val159=)
12g.52492714C>GCA384963690KRT6Ac.475G>C (p.Val159Leu)
dbSNP
12g.52492714C>TCA384963693KRT6Ac.475G>A (p.Val159Met)
12g.52492715C>ACA480069869KRT6Ac.474G>T (p.Arg158=)
12g.52492715C=CA2036522759KRT6Ac.474G= (p.Arg158=)
12g.52492715C>GCA480069870KRT6Ac.474G>C (p.Arg158=)
gnomAD v4
12g.52492715C>TCA6582255KRT6Ac.474G>A (p.Arg158=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52492716C>ACA384963695KRT6Ac.473G>T (p.Arg158Leu)
gnomAD v4
12g.52492716C=CA2036522760KRT6Ac.473G= (p.Arg158=)
12g.52492716C>GCA384963697KRT6Ac.473G>C (p.Arg158Pro)
12g.52492716C>TCA6582256KRT6Ac.473G>A (p.Arg158Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492717G>ACA384963701KRT6Ac.472C>T (p.Arg158Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52492717G>CCA237234932KRT6Ac.472C>G (p.Arg158Gly)
dbSNP
12g.52492717G=CA2036522761KRT6Ac.472C= (p.Arg158=)
12g.52492717G>TCA237234933KRT6Ac.472C>A (p.Arg158=)
dbSNP gnomAD v4
12g.52492718C>ACA384963712KRT6Ac.471G>T (p.Gln157His)
12g.52492718C=CA2036522762KRT6Ac.471G= (p.Gln157=)
12g.52492718C>GCA384963716KRT6Ac.471G>C (p.Gln157His)
dbSNP gnomAD v2 gnomAD v4
12g.52492718C>TCA480069874KRT6Ac.471G>A (p.Gln157=)
12g.52492719T>ACA384963736KRT6Ac.470A>T (p.Gln157Leu)
12g.52492719T>CCA6582257KRT6Ac.470A>G (p.Gln157Arg)
dbSNP ExAC gnomAD v4
12g.52492719T>GCA384963723KRT6Ac.470A>C (p.Gln157Pro)
12g.52492719T=CA2036522763KRT6Ac.470A= (p.Gln157=)
12g.52492720G>ACA384963738KRT6Ac.469C>T (p.Gln157Ter)
dbSNP
12g.52492720G>CCA384963748KRT6Ac.469C>G (p.Gln157Glu)
gnomAD v4
12g.52492720G=CA2036522764KRT6Ac.469C= (p.Gln157=)
12g.52492720G>TCA6582258KRT6Ac.469C>A (p.Gln157Lys)
dbSNP ExAC gnomAD v2
12g.52492721G>ACA480069875KRT6Ac.468C>T (p.Ile156=)
12g.52492721G>CCA384963750KRT6Ac.468C>G (p.Ile156Met)
dbSNP
12g.52492721G=CA2036522765KRT6Ac.468C= (p.Ile156=)
12g.52492721G>TCA480069876KRT6Ac.468C>A (p.Ile156=)
dbSNP
12g.52492722A>CCA384963753KRT6Ac.467T>G (p.Ile156Ser)
12g.52492722A>GCA384963765KRT6Ac.467T>C (p.Ile156Thr)
gnomAD v4
12g.52492722A>TCA384963766KRT6Ac.467T>A (p.Ile156Asn)
12g.52492723T>ACA384963768KRT6Ac.466A>T (p.Ile156Phe)
12g.52492723T>CCA384963769KRT6Ac.466A>G (p.Ile156Val)
12g.52492723T>GCA384963770KRT6Ac.466A>C (p.Ile156Leu)
12g.52492724G>ACA480069877KRT6Ac.465C>T (p.Thr155=)
12g.52492724G>CCA480069878KRT6Ac.465C>G (p.Thr155=)
12g.52492724G>TCA480069879KRT6Ac.465C>A (p.Thr155=)
12g.52492725G>ACA384963771KRT6Ac.464C>T (p.Thr155Ile)
12g.52492725G>CCA384963772KRT6Ac.464C>G (p.Thr155Ser)
12g.52492725G=CA2036522766KRT6Ac.464C= (p.Thr155=)
12g.52492725G>TCA384963773KRT6Ac.464C>A (p.Thr155Asn)
dbSNP gnomAD v3 gnomAD v4
12g.52492726T>ACA384963778KRT6Ac.463A>T (p.Thr155Ser)
12g.52492726T>CCA6582259KRT6Ac.463A>G (p.Thr155Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492726T>GCA384963794KRT6Ac.463A>C (p.Thr155Pro)
12g.52492726T=CA2036522767KRT6Ac.463A= (p.Thr155=)
12g.52492727G>ACA480069881KRT6Ac.462C>T (p.Pro154=)
12g.52492727G>CCA480069882KRT6Ac.462C>G (p.Pro154=)
12g.52492727G>TCA480069884KRT6Ac.462C>A (p.Pro154=)
12g.52492728G>ACA384963800KRT6Ac.461C>T (p.Pro154Leu)
12g.52492728G>CCA384963797KRT6Ac.461C>G (p.Pro154Arg)
12g.52492728G>TCA384963798KRT6Ac.461C>A (p.Pro154His)
12g.52492729G>ACA6582261KRT6Ac.460C>T (p.Pro154Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52492729G>CCA6582260KRT6Ac.460C>G (p.Pro154Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492729G=CA2036522768KRT6Ac.460C= (p.Pro154=)
12g.52492729G>TCA384963805KRT6Ac.460C>A (p.Pro154Thr)
12g.52492730A=CA2036522769KRT6Ac.459T= (p.Asp153=)
12g.52492730A>CCA384963806KRT6Ac.459T>G (p.Asp153Glu)
12g.52492730A>GCA6582262KRT6Ac.459T>C (p.Asp153=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492730A>TCA384963807KRT6Ac.459T>A (p.Asp153Glu)
12g.52492731T>ACA384963808KRT6Ac.458A>T (p.Asp153Val)
12g.52492731T>CCA384963809KRT6Ac.458A>G (p.Asp153Gly)
dbSNP
12g.52492731T>GCA384963812KRT6Ac.458A>C (p.Asp153Ala)
12g.52492731T=CA2036522770KRT6Ac.458A= (p.Asp153=)
12g.52492732C>ACA384963828KRT6Ac.457G>T (p.Asp153Tyr)
12g.52492732C=CA2036522771KRT6Ac.457G= (p.Asp153=)
12g.52492732C>GCA384963832KRT6Ac.457G>C (p.Asp153His)
12g.52492732C>TCA237234971KRT6Ac.457G>A (p.Asp153Asn)
dbSNP gnomAD v4
12g.52492733G>ACA6582263KRT6Ac.456C>T (p.Ile152=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52492733G>CCA384963850KRT6Ac.456C>G (p.Ile152Met)
dbSNP gnomAD v2 gnomAD v4
12g.52492733G=CA2036522772KRT6Ac.456C= (p.Ile152=)
12g.52492733G>TCA480069894KRT6Ac.456C>A (p.Ile152=)
12g.52492734A>CCA384963852KRT6Ac.455T>G (p.Ile152Ser)
12g.52492734A>GCA384963855KRT6Ac.455T>C (p.Ile152Thr)
12g.52492734A>TCA384963859KRT6Ac.455T>A (p.Ile152Asn)
12g.52492735T>ACA384963864KRT6Ac.454A>T (p.Ile152Phe)
12g.52492735T>CCA384963865KRT6Ac.454A>G (p.Ile152Val)
12g.52492735T>GCA384963869KRT6Ac.454A>C (p.Ile152Leu)
12g.52492736T>ACA384963895KRT6Ac.453A>T (p.Gln151His)
dbSNP
12g.52492736T>CCA480069898KRT6Ac.453A>G (p.Gln151=)
12g.52492736T>GCA384963876KRT6Ac.453A>C (p.Gln151His)
12g.52492736T=CA2036522773KRT6Ac.453A= (p.Gln151=)
12g.52492737T>ACA384963899KRT6Ac.452A>T (p.Gln151Leu)
12g.52492737T>CCA6582264KRT6Ac.452A>G (p.Gln151Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52492737T>GCA384963905KRT6Ac.452A>C (p.Gln151Pro)
12g.52492737T=CA2036522774KRT6Ac.452A= (p.Gln151=)
12g.52492738G>ACA384963907KRT6Ac.451C>T (p.Gln151Ter)
12g.52492738G>CCA384963911KRT6Ac.451C>G (p.Gln151Glu)
12g.52492738G>TCA384963914KRT6Ac.451C>A (p.Gln151Lys)
12g.52492739C>ACA480069902KRT6Ac.450G>T (p.Leu150=)
12g.52492739C>GCA480069903KRT6Ac.450G>C (p.Leu150=)
12g.52492739C>TCA480069905KRT6Ac.450G>A (p.Leu150=)
12g.52492740A>CCA384963919KRT6Ac.449T>G (p.Leu150Arg)
12g.52492740A>GCA384963923KRT6Ac.449T>C (p.Leu150Pro)
12g.52492740A>TCA384963921KRT6Ac.449T>A (p.Leu150Gln)
12g.52492741G>ACA6582265KRT6Ac.448C>T (p.Leu150=)
dbSNP ExAC gnomAD v2 COSMIC
12g.52492741G>CCA384963925KRT6Ac.448C>G (p.Leu150Val)
12g.52492741G=CA2036522775KRT6Ac.448C= (p.Leu150=)
12g.52492741G>TCA384963926KRT6Ac.448C>A (p.Leu150Met)
12g.52492742G>ACA480069917KRT6Ac.447C>T (p.Asn149=)
gnomAD v4
12g.52492742G>CCA384963927KRT6Ac.447C>G (p.Asn149Lys)
12g.52492742G>TCA384963930KRT6Ac.447C>A (p.Asn149Lys)

Number of alleles fetched