Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.1985913A>CCA394303988GFERc.278A>C (p.Gln93Pro)
c.503A>C (p.Gln168Pro)
n.660A>C
c.306A>C (p.Thr102=)
16g.1985913A>GCA394303990GFERc.278A>G (p.Gln93Arg)
c.503A>G (p.Gln168Arg)
n.660A>G
c.306A>G (p.Thr102=)
16g.1985913A>TCA394303992GFERc.278A>T (p.Gln93Leu)
c.503A>T (p.Gln168Leu)
n.660A>T
c.306A>T (p.Thr102=)
16g.1985914G>ACA394303993GFERc.279G>A (p.Gln93=)
c.504G>A (p.Gln168=)
n.661G>A
c.307G>A (p.Val103Met)
 gnomAD v4
16g.1985914G>CCA394303994GFERc.279G>C (p.Gln93His)
c.504G>C (p.Gln168His)
n.661G>C
c.307G>C (p.Val103Leu)
 gnomAD v4
16g.1985914G>TCA394303997GFERc.279G>T (p.Gln93His)
c.504G>T (p.Gln168His)
n.661G>T
c.307G>T (p.Val103Leu)
 gnomAD v4
16g.1985915T>ACA394303999GFERc.280T>A (p.Trp94Arg)
c.505T>A (p.Trp169Arg)
n.662T>A
c.308T>A (p.Val103Glu)
16g.1985915T>CCA394304001GFERc.280T>C (p.Trp94Arg)
c.505T>C (p.Trp169Arg)
n.662T>C
c.308T>C (p.Val103Ala)
 gnomAD v4
16g.1985915T>GCA394304003GFERc.280T>G (p.Trp94Gly)
c.505T>G (p.Trp169Gly)
n.662T>G
c.308T>G (p.Val103Gly)
16g.1985916G>ACA394304006GFERc.281G>A (p.Trp94Ter)
c.506G>A (p.Trp169Ter)
n.663G>A
c.309G>A (p.Val103=)
 COSMIC
16g.1985916G>CCA394304008GFERc.281G>C (p.Trp94Ser)
c.506G>C (p.Trp169Ser)
n.663G>C
c.309G>C (p.Val103=)
 gnomAD v4
16g.1985916G>TCA394304010GFERc.281G>T (p.Trp94Leu)
c.506G>T (p.Trp169Leu)
n.663G>T
c.309G>T (p.Val103=)
16g.1985917G>ACA394304013GFERc.282G>A (p.Trp94Ter)
c.507G>A (p.Trp169Ter)
n.664G>A
c.310G>A (p.Ala104Thr)
 gnomAD v4
16g.1985917G>CCA394304015GFERc.282G>C (p.Trp94Cys)
c.507G>C (p.Trp169Cys)
n.664G>C
c.310G>C (p.Ala104Pro)
16g.1985917G>TCA394304011GFERc.282G>T (p.Trp94Cys)
c.507G>T (p.Trp169Cys)
n.664G>T
c.310G>T (p.Ala104Ser)
16g.1985918C>ACA394304019GFERc.283C>A (p.Leu95Met)
c.508C>A (p.Leu170Met)
n.665C>A
c.311C>A (p.Ala104Asp)
16g.1985918C>GCA394304017GFERc.283C>G (p.Leu95Val)
c.508C>G (p.Leu170Val)
n.665C>G
c.311C>G (p.Ala104Gly)
16g.1985918C>TCA394304020GFERc.283C>T (p.Leu95=)
c.508C>T (p.Leu170=)
n.665C>T
c.311C>T (p.Ala104Val)
 gnomAD v4
16g.1985919T>ACA394304022GFERc.284T>A (p.Leu95Gln)
c.509T>A (p.Leu170Gln)
n.666T>A
c.312T>A (p.Ala104=)
16g.1985919T>CCA394304023GFERc.284T>C (p.Leu95Pro)
c.509T>C (p.Leu170Pro)
n.666T>C
c.312T>C (p.Ala104=)
16g.1985919T>GCA394304024GFERc.284T>G (p.Leu95Arg)
c.509T>G (p.Leu170Arg)
n.666T>G
c.312T>G (p.Ala104=)
16g.1985920G>ACA394304025GFERc.285G>A (p.Leu95=)
c.510G>A (p.Leu170=)
n.667G>A
c.313G>A (p.Val105Met)
 dbSNP gnomAD v2 gnomAD v4
16g.1985920G>CCA394304027GFERc.285G>C (p.Leu95=)
c.510G>C (p.Leu170=)
n.667G>C
c.313G>C (p.Val105Leu)
 ClinVar dbSNP
16g.1985920G=CA2201967732GFERc.285G= (p.Leu95=)
c.510G= (p.Leu170=)
n.667G=
c.313G= (p.Val105=)
16g.1985920G>TCA394304029GFERc.285G>T (p.Leu95=)
c.510G>T (p.Leu170=)
n.667G>T
c.313G>T (p.Val105Leu)
 gnomAD v4
16g.1985921T>ACA394304031GFERc.286T>A (p.Cys96Ser)
c.511T>A (p.Cys171Ser)
n.668T>A
c.314T>A (p.Val105Glu)
16g.1985921T>CCA394304032GFERc.286T>C (p.Cys96Arg)
c.511T>C (p.Cys171Arg)
n.668T>C
c.314T>C (p.Val105Ala)
16g.1985921T>GCA276773488GFERc.286T>G (p.Cys96Gly)
c.511T>G (p.Cys171Gly)
n.668T>G
c.314T>G (p.Val105Gly)
 dbSNP
16g.1985921T=CA2201967735GFERc.286T= (p.Cys96=)
c.511T= (p.Cys171=)
n.668T=
c.314T= (p.Val105=)
16g.1985922G>ACA394304034GFERc.287G>A (p.Cys96Tyr)
c.512G>A (p.Cys171Tyr)
n.669G>A
c.315G>A (p.Val105=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985922G>CCA394304036GFERc.287G>C (p.Cys96Ser)
c.512G>C (p.Cys171Ser)
n.669G>C
c.315G>C (p.Val105=)
16g.1985922G=CA2201967737GFERc.287G= (p.Cys96=)
c.512G= (p.Cys171=)
n.669G=
c.315G= (p.Val105=)
16g.1985922G>TCA394304038GFERc.287G>T (p.Cys96Phe)
c.512G>T (p.Cys171Phe)
n.669G>T
c.315G>T (p.Val105=)
16g.1985923C>ACA394304044GFERc.288C>A (p.Cys96Ter)
c.513C>A (p.Cys171Ter)
n.670C>A
c.316C>A (p.Pro106Thr)
16g.1985923C>GCA394304042GFERc.288C>G (p.Cys96Trp)
c.513C>G (p.Cys171Trp)
n.670C>G
c.316C>G (p.Pro106Ala)
16g.1985923C>TCA394304039GFERc.288C>T (p.Cys96=)
c.513C>T (p.Cys171=)
n.670C>T
c.316C>T (p.Pro106Ser)
16g.1985924C>ACA322208GFERc.289C>A (p.His97Asn)
c.514C>A (p.His172Asn)
n.671C>A
c.317C>A (p.Pro106Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985924C=CA2201967739GFERc.289C= (p.His97=)
c.514C= (p.His172=)
n.671C=
c.317C= (p.Pro106=)
16g.1985924C>GCA394304047GFERc.289C>G (p.His97Asp)
c.514C>G (p.His172Asp)
n.671C>G
c.317C>G (p.Pro106Arg)
16g.1985924C>TCA394304049GFERc.289C>T (p.His97Tyr)
c.514C>T (p.His172Tyr)
n.671C>T
c.317C>T (p.Pro106Leu)
16g.1985925A=CA2201967741GFERc.290A= (p.His97=)
c.515A= (p.His172=)
n.672A=
c.318A= (p.Pro106=)
16g.1985925A>CCA394304050GFERc.290A>C (p.His97Pro)
c.515A>C (p.His172Pro)
n.672A>C
c.318A>C (p.Pro106=)
 dbSNP
16g.1985925A>GCA394304053GFERc.290A>G (p.His97Arg)
c.515A>G (p.His172Arg)
n.672A>G
c.318A>G (p.Pro106=)
16g.1985925A>TCA394304055GFERc.290A>T (p.His97Leu)
c.515A>T (p.His172Leu)
n.672A>T
c.318A>T (p.Pro106=)
16g.1985926C>ACA394304056GFERc.291C>A (p.His97Gln)
c.516C>A (p.His172Gln)
n.673C>A
c.319C>A (p.Pro107Thr)
16g.1985926C=CA2201967743GFERc.291C= (p.His97=)
c.516C= (p.His172=)
n.673C=
c.319C= (p.Pro107=)
16g.1985926C>GCA394304061GFERc.291C>G (p.His97Gln)
c.516C>G (p.His172Gln)
n.673C>G
c.319C>G (p.Pro107Ala)
16g.1985926C>TCA7826076GFERc.291C>T (p.His97=)
c.516C>T (p.His172=)
n.673C>T
c.319C>T (p.Pro107Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985927C>ACA394304064GFERc.292C>A (p.Leu98Met)
c.517C>A (p.Leu173Met)
n.674C>A
c.320C>A (p.Pro107His)
16g.1985927C=CA2201967744GFERc.292C= (p.Leu98=)
c.517C= (p.Leu173=)
n.674C=
c.320C= (p.Pro107=)
16g.1985927C>GCA276773501GFERc.292C>G (p.Leu98Val)
c.517C>G (p.Leu173Val)
n.674C>G
c.320C>G (p.Pro107Arg)
 dbSNP
16g.1985927C>TCA394304068GFERc.292C>T (p.Leu98=)
c.517C>T (p.Leu173=)
n.674C>T
c.320C>T (p.Pro107Leu)
16g.1985928T>ACA394304072GFERc.293T>A (p.Leu98Gln)
c.518T>A (p.Leu173Gln)
n.675T>A
c.321T>A (p.Pro107=)
 COSMIC
16g.1985928T>CCA394304070GFERc.293T>C (p.Leu98Pro)
c.518T>C (p.Leu173Pro)
n.675T>C
c.321T>C (p.Pro107=)
16g.1985928T>GCA394304069GFERc.293T>G (p.Leu98Arg)
c.518T>G (p.Leu173Arg)
n.675T>G
c.321T>G (p.Pro107=)
16g.1985929G>ACA394304078GFERc.294G>A (p.Leu98=)
c.519G>A (p.Leu173=)
n.676G>A
c.322G>A (p.Ala108Thr)
 gnomAD v4
16g.1985929G>CCA394304080GFERc.294G>C (p.Leu98=)
c.519G>C (p.Leu173=)
n.676G>C
c.322G>C (p.Ala108Pro)
 dbSNP gnomAD v4
16g.1985929G=CA2201967746GFERc.294G= (p.Leu98=)
c.519G= (p.Leu173=)
n.676G=
c.322G= (p.Ala108=)
16g.1985929G>TCA394304090GFERc.294G>T (p.Leu98=)
c.519G>T (p.Leu173=)
n.676G>T
c.322G>T (p.Ala108Ser)
16g.1985930C>ACA394304093GFERc.295C>A (p.His99Asn)
c.520C>A (p.His174Asn)
n.677C>A
c.323C>A (p.Ala108Glu)
16g.1985930C=CA2201967748GFERc.295C= (p.His99=)
c.520C= (p.His174=)
n.677C=
c.323C= (p.Ala108=)
16g.1985930C>GCA7826077GFERc.295C>G (p.His99Asp)
c.520C>G (p.His174Asp)
n.677C>G
c.323C>G (p.Ala108Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985930C>TCA394304103GFERc.295C>T (p.His99Tyr)
c.520C>T (p.His174Tyr)
n.677C>T
c.323C>T (p.Ala108Val)
 gnomAD v4
16g.1985931A=CA2201967750GFERc.296A= (p.His99=)
c.521A= (p.His174=)
n.678A=
c.324A= (p.Ala108=)
16g.1985931A>CCA394304111GFERc.296A>C (p.His99Pro)
c.521A>C (p.His174Pro)
n.678A>C
c.324A>C (p.Ala108=)
16g.1985931A>GCA394304109GFERc.296A>G (p.His99Arg)
c.521A>G (p.His174Arg)
n.678A>G
c.324A>G (p.Ala108=)
 dbSNP gnomAD v2 gnomAD v4
16g.1985931A>TCA394304107GFERc.296A>T (p.His99Leu)
c.521A>T (p.His174Leu)
n.678A>T
c.324A>T (p.Ala108=)
16g.1985932C>ACA394304112GFERc.297C>A (p.His99Gln)
c.522C>A (p.His174Gln)
n.679C>A
c.325C>A (p.Gln109Lys)
16g.1985932C=CA2201967751GFERc.297C= (p.His99=)
c.522C= (p.His174=)
n.679C=
c.325C= (p.Gln109=)
16g.1985932C>GCA394304115GFERc.297C>G (p.His99Gln)
c.522C>G (p.His174Gln)
n.679C>G
c.325C>G (p.Gln109Glu)
16g.1985932C>TCA7826078GFERc.297C>T (p.His99=)
c.522C>T (p.His174=)
n.679C>T
c.325C>T (p.Gln109Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985933A=CA2201967753GFERc.298A= (p.Asn100=)
c.523A= (p.Asn175=)
n.680A=
c.326A= (p.Gln109=)
16g.1985933A>CCA394304121GFERc.298A>C (p.Asn100His)
c.523A>C (p.Asn175His)
n.680A>C
c.326A>C (p.Gln109Pro)
16g.1985933A>GCA394304133GFERc.298A>G (p.Asn100Asp)
c.523A>G (p.Asn175Asp)
n.680A>G
c.326A>G (p.Gln109Arg)
 dbSNP gnomAD v4
16g.1985933A>TCA394304136GFERc.298A>T (p.Asn100Tyr)
c.523A>T (p.Asn175Tyr)
n.680A>T
c.326A>T (p.Gln109Leu)
16g.1985934A=CA2201967755GFERc.299A= (p.Asn100=)
c.524A= (p.Asn175=)
n.681A=
c.327A= (p.Gln109=)
16g.1985934A>CCA394304138GFERc.299A>C (p.Asn100Thr)
c.524A>C (p.Asn175Thr)
n.681A>C
c.327A>C (p.Gln109His)
16g.1985934A>GCA7826079GFERc.299A>G (p.Asn100Ser)
c.524A>G (p.Asn175Ser)
n.681A>G
c.327A>G (p.Gln109=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.1985934A>TCA394304141GFERc.299A>T (p.Asn100Ile)
c.524A>T (p.Asn175Ile)
n.681A>T
c.327A>T (p.Gln109His)
16g.1985935T>ACA394304151GFERc.300T>A (p.Asn100Lys)
c.525T>A (p.Asn175Lys)
n.682T>A
c.328T>A (p.Ter110Arg)
16g.1985935T>CCA394304152GFERc.300T>C (p.Asn100=)
c.525T>C (p.Asn175=)
n.682T>C
c.328T>C (p.Ter110Arg)
 gnomAD v4
16g.1985935T>GCA394304155GFERc.300T>G (p.Asn100Lys)
c.525T>G (p.Asn175Lys)
n.682T>G
c.328T>G (p.Ter110Gly)
16g.1985936G>ACA394304158GFERc.301G>A (p.Glu101Lys)
c.526G>A (p.Glu176Lys)
n.683G>A
c.329G>A (p.Ter110=)
16g.1985936G>CCA394304159GFERc.301G>C (p.Glu101Gln)
c.526G>C (p.Glu176Gln)
n.683G>C
c.329G>C (p.Ter110Ser)
16g.1985936G=CA2201967756GFERc.301G= (p.Glu101=)
c.526G= (p.Glu176=)
n.683G=
c.329G= (p.Ter110=)
16g.1985936G>TCA7826080GFERc.301G>T (p.Glu101Ter)
c.526G>T (p.Glu176Ter)
n.683G>T
c.329G>T (p.Ter110Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985937A=CA2201967758GFERc.302A= (p.Glu101=)
c.527A= (p.Glu176=)
n.684A=
c.330A= (p.Ter110=)
16g.1985937A>CCA394304166GFERc.302A>C (p.Glu101Ala)
c.527A>C (p.Glu176Ala)
n.684A>C
c.330A>C (p.Ter110Cys)
16g.1985937A>GCA394304168GFERc.302A>G (p.Glu101Gly)
c.527A>G (p.Glu176Gly)
n.684A>G
c.330A>G (p.Ter110Trp)
 dbSNP gnomAD v3 gnomAD v4
16g.1985937A>TCA394304171GFERc.302A>T (p.Glu101Val)
c.527A>T (p.Glu176Val)
n.684A>T
c.330A>T (p.Ter110Cys)
16g.1985938A=CA2201967759GFERc.303A= (p.Glu101=)
c.528A= (p.Glu176=)
n.685A=
c.*1A= (n.*1A=)
16g.1985938A>CCA276773510GFERc.303A>C (p.Glu101Asp)
c.528A>C (p.Glu176Asp)
n.685A>C
c.*1A>C (n.*1A>C)
 dbSNP
16g.1985938A>GCA492950182GFERc.303A>G (p.Glu101=)
c.528A>G (p.Glu176=)
n.685A>G
c.*1A>G (n.*1A>G)
16g.1985938A>TCA394304176GFERc.303A>T (p.Glu101Asp)
c.528A>T (p.Glu176Asp)
n.685A>T
c.*1A>T (n.*1A>T)
16g.1985939G>ACA394304183GFERc.304G>A (p.Val102Met)
c.529G>A (p.Val177Met)
n.686G>A
c.*2G>A (n.*2G>A)
 dbSNP gnomAD v2
16g.1985939G>CCA394304188GFERc.304G>C (p.Val102Leu)
c.529G>C (p.Val177Leu)
n.686G>C
c.*2G>C (n.*2G>C)
 dbSNP gnomAD v4
16g.1985939G=CA2201967761GFERc.304G= (p.Val102=)
c.529G= (p.Val177=)
n.686G=
c.*2G= (n.*2G=)
16g.1985939G>TCA394304184GFERc.304G>T (p.Val102Leu)
c.529G>T (p.Val177Leu)
n.686G>T
c.*2G>T (n.*2G>T)
16g.1985940T>ACA394304191GFERc.305T>A (p.Val102Glu)
c.530T>A (p.Val177Glu)
n.687T>A
c.*3T>A (n.*3T>A)
 dbSNP gnomAD v4
16g.1985940T>CCA394304194GFERc.305T>C (p.Val102Ala)
c.530T>C (p.Val177Ala)
n.687T>C
c.*3T>C (n.*3T>C)
 gnomAD v4
16g.1985940T>GCA7826081GFERc.305T>G (p.Val102Gly)
c.530T>G (p.Val177Gly)
n.687T>G
c.*3T>G (n.*3T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985940T=CA2201967763GFERc.305T= (p.Val102=)
c.530T= (p.Val177=)
n.687T=
c.*3T= (n.*3T=)
16g.1985941G>ACA492950189GFERc.306G>A (p.Val102=)
c.531G>A (p.Val177=)
n.688G>A
c.*4G>A (n.*4G>A)
16g.1985941G>CCA492950191GFERc.306G>C (p.Val102=)
c.531G>C (p.Val177=)
n.688G>C
c.*4G>C (n.*4G>C)
 dbSNP
16g.1985941G=CA2201967764GFERc.306G= (p.Val102=)
c.531G= (p.Val177=)
n.688G=
c.*4G= (n.*4G=)
16g.1985941G>TCA492950190GFERc.306G>T (p.Val102=)
c.531G>T (p.Val177=)
n.688G>T
c.*4G>T (n.*4G>T)
16g.1985942A>CCA394304197GFERc.307A>C (p.Asn103His)
c.532A>C (p.Asn178His)
n.689A>C
c.*5A>C (n.*5A>C)
16g.1985942A>GCA394304215GFERc.307A>G (p.Asn103Asp)
c.532A>G (p.Asn178Asp)
n.689A>G
c.*5A>G (n.*5A>G)
16g.1985942A>TCA394304209GFERc.307A>T (p.Asn103Tyr)
c.532A>T (p.Asn178Tyr)
n.689A>T
c.*5A>T (n.*5A>T)
16g.1985943A=CA2201967767GFERc.308A= (p.Asn103=)
c.533A= (p.Asn178=)
n.690A=
c.*6A= (n.*6A=)
16g.1985943A>CCA394304219GFERc.308A>C (p.Asn103Thr)
c.533A>C (p.Asn178Thr)
n.690A>C
c.*6A>C (n.*6A>C)
16g.1985943A>GCA394304224GFERc.308A>G (p.Asn103Ser)
c.533A>G (p.Asn178Ser)
n.690A>G
c.*6A>G (n.*6A>G)
16g.1985943A>TCA394304221GFERc.308A>T (p.Asn103Ile)
c.533A>T (p.Asn178Ile)
n.690A>T
c.*6A>T (n.*6A>T)
16g.1985943_1985945delinsACCCA2201967766GFERc.308_310delinsACC (p.Asn103=)
c.533_535delinsACC (p.Asn178=)
n.690_692delinsACC
c.*6_*8delinsACC (n.*6_*8delinsACC)
16g.1985943_1985944insGGTCA2201967772GFERc.308_309insGGT (p.Asn103delinsLysVal)
c.533_534insGGT (p.Asn178delinsLysVal)
n.690_691insGGT
c.*6_*7insGGT (n.*6_*7insGGT)
 dbSNP
16g.1985944C>ACA394304229GFERc.309C>A (p.Asn103Lys)
c.534C>A (p.Asn178Lys)
n.691C>A
c.*7C>A (n.*7C>A)
 gnomAD v4
16g.1985944C=CA2201967771GFERc.309C= (p.Asn103=)
c.534C= (p.Asn178=)
n.691C=
c.*7C= (n.*7C=)
16g.1985944C>GCA394304231GFERc.309C>G (p.Asn103Lys)
c.534C>G (p.Asn178Lys)
n.691C>G
c.*7C>G (n.*7C>G)
 dbSNP
16g.1985944C>TCA7826082GFERc.309C>T (p.Asn103=)
c.534C>T (p.Asn178=)
n.691C>T
c.*7C>T (n.*7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985944_1985945delCA919640052GFERc.309_310del (p.Asn103LysfsTer7)
c.534_535del (p.Asn178LysfsTer7)
n.691_692del
c.*7_*8del (n.*7_*8del)
 dbSNP gnomAD v3 gnomAD v4
16g.1985945C>ACA394304232GFERc.310C>A (p.Arg104Ser)
c.535C>A (p.Arg179Ser)
n.692C>A
c.*8C>A (n.*8C>A)
 COSMIC
16g.1985945C=CA2201967774GFERc.310C= (p.Arg104=)
c.535C= (p.Arg179=)
n.692C=
c.*8C= (n.*8C=)
16g.1985945C>GCA394304233GFERc.310C>G (p.Arg104Gly)
c.535C>G (p.Arg179Gly)
n.692C>G
c.*8C>G (n.*8C>G)
 dbSNP gnomAD v4
16g.1985945C>TCA7826083GFERc.310C>T (p.Arg104Cys)
c.535C>T (p.Arg179Cys)
n.692C>T
c.*8C>T (n.*8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985946G>ACA7826084GFERc.311G>A (p.Arg104His)
c.536G>A (p.Arg179His)
n.693G>A
c.*9G>A (n.*9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985946G>CCA394304239GFERc.311G>C (p.Arg104Pro)
c.536G>C (p.Arg179Pro)
n.693G>C
c.*9G>C (n.*9G>C)
16g.1985946G=CA2201967776GFERc.311G= (p.Arg104=)
c.536G= (p.Arg179=)
n.693G=
c.*9G= (n.*9G=)
16g.1985946G>TCA394304242GFERc.311G>T (p.Arg104Leu)
c.536G>T (p.Arg179Leu)
n.693G>T
c.*9G>T (n.*9G>T)
16g.1985946_1985947insGTGGGCA919640053GFERc.311_312insGTGGG (p.Lys105TrpfsTer?)
c.536_537insGTGGG (p.Lys180TrpfsTer?)
n.693_694insGTGGG
c.*9_*10insGTGGG (n.*9_*10insGTGGG)
 dbSNP gnomAD v3 gnomAD v4
16g.1985947C>ACA492950198GFERc.312C>A (p.Arg104=)
c.537C>A (p.Arg179=)
n.694C>A
c.*10C>A (n.*10C>A)
16g.1985947C=CA2201967778GFERc.312C= (p.Arg104=)
c.537C= (p.Arg179=)
n.694C=
c.*10C= (n.*10C=)
16g.1985947C>GCA492950199GFERc.312C>G (p.Arg104=)
c.537C>G (p.Arg179=)
n.694C>G
c.*10C>G (n.*10C>G)
16g.1985947C>TCA7826085GFERc.312C>T (p.Arg104=)
c.537C>T (p.Arg179=)
n.694C>T
c.*10C>T (n.*10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985948A=CA2201967780GFERc.313A= (p.Lys105=)
c.538A= (p.Lys180=)
n.695A=
c.*11A= (n.*11A=)
16g.1985948A>CCA394304252GFERc.313A>C (p.Lys105Gln)
c.538A>C (p.Lys180Gln)
n.695A>C
c.*11A>C (n.*11A>C)
16g.1985948A>GCA394304250GFERc.313A>G (p.Lys105Glu)
c.538A>G (p.Lys180Glu)
n.695A>G
c.*11A>G (n.*11A>G)
 dbSNP gnomAD v2
16g.1985948A>TCA394304248GFERc.313A>T (p.Lys105Ter)
c.538A>T (p.Lys180Ter)
n.695A>T
c.*11A>T (n.*11A>T)
16g.1985949A>CCA394304257GFERc.314A>C (p.Lys105Thr)
c.539A>C (p.Lys180Thr)
n.696A>C
c.*12A>C (n.*12A>C)
16g.1985949A>GCA394304259GFERc.314A>G (p.Lys105Arg)
c.539A>G (p.Lys180Arg)
n.696A>G
c.*12A>G (n.*12A>G)
16g.1985949A>TCA394304262GFERc.314A>T (p.Lys105Met)
c.539A>T (p.Lys180Met)
n.696A>T
c.*12A>T (n.*12A>T)
16g.1985950G>ACA492950204GFERc.315G>A (p.Lys105=)
c.540G>A (p.Lys180=)
n.697G>A
c.*13G>A (n.*13G>A)
 gnomAD v4
16g.1985950G>CCA394304266GFERc.315G>C (p.Lys105Asn)
c.540G>C (p.Lys180Asn)
n.697G>C
c.*13G>C (n.*13G>C)
16g.1985950G>TCA394304269GFERc.315G>T (p.Lys105Asn)
c.540G>T (p.Lys180Asn)
n.697G>T
c.*13G>T (n.*13G>T)
16g.1985951C>ACA394304276GFERc.316C>A (p.Leu106Met)
c.541C>A (p.Leu181Met)
n.698C>A
c.*14C>A (n.*14C>A)
16g.1985951C=CA2201967781GFERc.316C= (p.Leu106=)
c.541C= (p.Leu181=)
n.698C=
c.*14C= (n.*14C=)
16g.1985951C>GCA394304278GFERc.316C>G (p.Leu106Val)
c.541C>G (p.Leu181Val)
n.698C>G
c.*14C>G (n.*14C>G)
 ClinVar
16g.1985951C>TCA492950206GFERc.316C>T (p.Leu106=)
c.541C>T (p.Leu181=)
n.698C>T
c.*14C>T (n.*14C>T)
 ClinVar dbSNP gnomAD v4
16g.1985952T>ACA394304281GFERc.317T>A (p.Leu106Gln)
c.542T>A (p.Leu181Gln)
n.699T>A
c.*15T>A (n.*15T>A)
16g.1985952T>CCA394304282GFERc.317T>C (p.Leu106Pro)
c.542T>C (p.Leu181Pro)
n.699T>C
c.*15T>C (n.*15T>C)
16g.1985952T>GCA394304285GFERc.317T>G (p.Leu106Arg)
c.542T>G (p.Leu181Arg)
n.699T>G
c.*15T>G (n.*15T>G)
16g.1985953G>ACA276773515GFERc.318G>A (p.Leu106=)
c.543G>A (p.Leu181=)
n.700G>A
c.*16G>A (n.*16G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.1985953G>CCA492950210GFERc.318G>C (p.Leu106=)
c.543G>C (p.Leu181=)
n.700G>C
c.*16G>C (n.*16G>C)
16g.1985953G=CA2201967783GFERc.318G= (p.Leu106=)
c.543G= (p.Leu181=)
n.700G=
c.*16G= (n.*16G=)
16g.1985953G>TCA492950211GFERc.318G>T (p.Leu106=)
c.543G>T (p.Leu181=)
n.700G>T
c.*16G>T (n.*16G>T)
 dbSNP gnomAD v3 gnomAD v4
16g.1985954G>ACA276773518GFERc.319G>A (p.Gly107Ser)
c.544G>A (p.Gly182Ser)
n.701G>A
c.*17G>A (n.*17G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.1985954G>CCA394304293GFERc.319G>C (p.Gly107Arg)
c.544G>C (p.Gly182Arg)
n.701G>C
c.*17G>C (n.*17G>C)
16g.1985954G=CA2201967785GFERc.319G= (p.Gly107=)
c.544G= (p.Gly182=)
n.701G=
c.*17G= (n.*17G=)
16g.1985954G>TCA394304291GFERc.319G>T (p.Gly107Cys)
c.544G>T (p.Gly182Cys)
n.701G>T
c.*17G>T (n.*17G>T)
16g.1985955_1985959delCA2631092509GFERc.320_324del (p.Gly107AlafsTer2)
c.545_549del (p.Gly182AlafsTer2)
n.702_706del
c.*18_*22del (n.*18_*22del)
 gnomAD v4
16g.1985955G>ACA7826086GFERc.320G>A (p.Gly107Asp)
c.545G>A (p.Gly182Asp)
n.702G>A
c.*18G>A (n.*18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985955G>CCA394304295GFERc.320G>C (p.Gly107Ala)
c.545G>C (p.Gly182Ala)
n.702G>C
c.*18G>C (n.*18G>C)
16g.1985955G=CA2201967787GFERc.320G= (p.Gly107=)
c.545G= (p.Gly182=)
n.702G=
c.*18G= (n.*18G=)
16g.1985955G>TCA394304296GFERc.320G>T (p.Gly107Val)
c.545G>T (p.Gly182Val)
n.702G>T
c.*18G>T (n.*18G>T)
 gnomAD v4
16g.1985956C>ACA492950214GFERc.321C>A (p.Gly107=)
c.546C>A (p.Gly182=)
n.703C>A
c.*19C>A (n.*19C>A)
 dbSNP gnomAD v2
16g.1985956C=CA2201967788GFERc.321C= (p.Gly107=)
c.546C= (p.Gly182=)
n.703C=
c.*19C= (n.*19C=)
16g.1985956C>GCA492950216GFERc.321C>G (p.Gly107=)
c.546C>G (p.Gly182=)
n.703C>G
c.*19C>G (n.*19C>G)
16g.1985956C>TCA492950218GFERc.321C>T (p.Gly107=)
c.546C>T (p.Gly182=)
n.703C>T
c.*19C>T (n.*19C>T)
16g.1985957A=CA2201967790GFERc.322A= (p.Lys108=)
c.547A= (p.Lys183=)
n.704A=
c.*20A= (n.*20A=)
16g.1985957A>CCA394304300GFERc.322A>C (p.Lys108Gln)
c.547A>C (p.Lys183Gln)
n.704A>C
c.*20A>C (n.*20A>C)
16g.1985957A>GCA394304311GFERc.322A>G (p.Lys108Glu)
c.547A>G (p.Lys183Glu)
n.704A>G
c.*20A>G (n.*20A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.1985957A>TCA394304324GFERc.322A>T (p.Lys108Ter)
c.547A>T (p.Lys183Ter)
n.704A>T
c.*20A>T (n.*20A>T)
16g.1985960_1986010delCA2631092520GFERc.325_375del (p.Pro109_Lys125del)
c.550_600del (p.Pro184_Lys200del)
n.707_757del
c.*23_*73del (n.*23_*73del)
 gnomAD v4
16g.1985958A>CCA394304328GFERc.323A>C (p.Lys108Thr)
c.548A>C (p.Lys183Thr)
n.705A>C
c.*21A>C (n.*21A>C)
16g.1985958A>GCA394304332GFERc.323A>G (p.Lys108Arg)
c.548A>G (p.Lys183Arg)
n.705A>G
c.*21A>G (n.*21A>G)
16g.1985958A>TCA394304335GFERc.323A>T (p.Lys108Met)
c.548A>T (p.Lys183Met)
n.705A>T
c.*21A>T (n.*21A>T)
16g.1985959G>ACA492950222GFERc.324G>A (p.Lys108=)
c.549G>A (p.Lys183=)
n.706G>A
c.*22G>A (n.*22G>A)
16g.1985959G>CCA394304340GFERc.324G>C (p.Lys108Asn)
c.549G>C (p.Lys183Asn)
n.706G>C
c.*22G>C (n.*22G>C)
16g.1985959G>TCA394304342GFERc.324G>T (p.Lys108Asn)
c.549G>T (p.Lys183Asn)
n.706G>T
c.*22G>T (n.*22G>T)
16g.1985960C>ACA323190GFERc.325C>A (p.Pro109Thr)
c.550C>A (p.Pro184Thr)
n.707C>A
c.*23C>A (n.*23C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985960C=CA2201967792GFERc.325C= (p.Pro109=)
c.550C= (p.Pro184=)
n.707C=
c.*23C= (n.*23C=)
16g.1985960C>GCA394304349GFERc.325C>G (p.Pro109Ala)
c.550C>G (p.Pro184Ala)
n.707C>G
c.*23C>G (n.*23C>G)
16g.1985960C>TCA394304345GFERc.325C>T (p.Pro109Ser)
c.550C>T (p.Pro184Ser)
n.707C>T
c.*23C>T (n.*23C>T)
16g.1985961C>ACA394304351GFERc.326C>A (p.Pro109His)
c.551C>A (p.Pro184His)
n.708C>A
c.*24C>A (n.*24C>A)
 dbSNP
16g.1985961C=CA2201967795GFERc.326C= (p.Pro109=)
c.551C= (p.Pro184=)
n.708C=
c.*24C= (n.*24C=)
16g.1985961C>GCA394304354GFERc.326C>G (p.Pro109Arg)
c.551C>G (p.Pro184Arg)
n.708C>G
c.*24C>G (n.*24C>G)
16g.1985961C>TCA394304364GFERc.326C>T (p.Pro109Leu)
c.551C>T (p.Pro184Leu)
n.708C>T
c.*24C>T (n.*24C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985962T>ACA492950226GFERc.327T>A (p.Pro109=)
c.552T>A (p.Pro184=)
n.709T>A
c.*25T>A (n.*25T>A)
16g.1985962T>CCA492950227GFERc.327T>C (p.Pro109=)
c.552T>C (p.Pro184=)
n.709T>C
c.*25T>C (n.*25T>C)
16g.1985962T>GCA492950228GFERc.327T>G (p.Pro109=)
c.552T>G (p.Pro184=)
n.709T>G
c.*25T>G (n.*25T>G)
16g.1985963G>ACA7826087GFERc.328G>A (p.Asp110Asn)
c.553G>A (p.Asp185Asn)
n.710G>A
c.*26G>A (n.*26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985963G>CCA394304369GFERc.328G>C (p.Asp110His)
c.553G>C (p.Asp185His)
n.710G>C
c.*26G>C (n.*26G>C)
16g.1985963G=CA2201967797GFERc.328G= (p.Asp110=)
c.553G= (p.Asp185=)
n.710G=
c.*26G= (n.*26G=)
16g.1985963G>TCA394304376GFERc.328G>T (p.Asp110Tyr)
c.553G>T (p.Asp185Tyr)
n.710G>T
c.*26G>T (n.*26G>T)
 gnomAD v4
16g.1985964A>CCA394304380GFERc.329A>C (p.Asp110Ala)
c.554A>C (p.Asp185Ala)
n.711A>C
c.*27A>C (n.*27A>C)
16g.1985964A>GCA394304395GFERc.329A>G (p.Asp110Gly)
c.554A>G (p.Asp185Gly)
n.711A>G
c.*27A>G (n.*27A>G)
16g.1985964A>TCA394304385GFERc.329A>T (p.Asp110Val)
c.554A>T (p.Asp185Val)
n.711A>T
c.*27A>T (n.*27A>T)
16g.1985965C>ACA394304397GFERc.330C>A (p.Asp110Glu)
c.555C>A (p.Asp185Glu)
n.712C>A
c.*28C>A (n.*28C>A)
16g.1985965C=CA2201967799GFERc.330C= (p.Asp110=)
c.555C= (p.Asp185=)
n.712C=
c.*28C= (n.*28C=)
16g.1985965C>GCA394304399GFERc.330C>G (p.Asp110Glu)
c.555C>G (p.Asp185Glu)
n.712C>G
c.*28C>G (n.*28C>G)
16g.1985965C>TCA492950230GFERc.330C>T (p.Asp110=)
c.555C>T (p.Asp185=)
n.712C>T
c.*28C>T (n.*28C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985966T>ACA394304401GFERc.331T>A (p.Phe111Ile)
c.556T>A (p.Phe186Ile)
n.713T>A
c.*29T>A (n.*29T>A)
 COSMIC
16g.1985966T>CCA394304404GFERc.331T>C (p.Phe111Leu)
c.556T>C (p.Phe186Leu)
n.713T>C
c.*29T>C (n.*29T>C)
 gnomAD v4
16g.1985966T>GCA394304406GFERc.331T>G (p.Phe111Val)
c.556T>G (p.Phe186Val)
n.713T>G
c.*29T>G (n.*29T>G)
16g.1985967T>ACA394304429GFERc.332T>A (p.Phe111Tyr)
c.557T>A (p.Phe186Tyr)
n.714T>A
c.*30T>A (n.*30T>A)
16g.1985967T>CCA394304421GFERc.332T>C (p.Phe111Ser)
c.557T>C (p.Phe186Ser)
n.714T>C
c.*30T>C (n.*30T>C)
16g.1985967T>GCA394304417GFERc.332T>G (p.Phe111Cys)
c.557T>G (p.Phe186Cys)
n.714T>G
c.*30T>G (n.*30T>G)
16g.1985968C>ACA394304436GFERc.333C>A (p.Phe111Leu)
c.558C>A (p.Phe186Leu)
n.715C>A
c.*31C>A (n.*31C>A)
16g.1985968C=CA2201967801GFERc.333C= (p.Phe111=)
c.558C= (p.Phe186=)
n.715C=
c.*31C= (n.*31C=)
16g.1985968C>GCA7826089GFERc.333C>G (p.Phe111Leu)
c.558C>G (p.Phe186Leu)
n.715C>G
c.*31C>G (n.*31C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985968C>TCA7826088GFERc.333C>T (p.Phe111=)
c.558C>T (p.Phe186=)
n.715C>T
c.*31C>T (n.*31C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.1985969G>ACA276773538GFERc.334G>A (p.Asp112Asn)
c.559G>A (p.Asp187Asn)
n.716G>A
c.*32G>A (n.*32G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.1985969G>CCA394304438GFERc.334G>C (p.Asp112His)
c.559G>C (p.Asp187His)
n.716G>C
c.*32G>C (n.*32G>C)
 gnomAD v4
16g.1985969G=CA2201967803GFERc.334G= (p.Asp112=)
c.559G= (p.Asp187=)
n.716G=
c.*32G= (n.*32G=)
16g.1985969G>TCA394304439GFERc.334G>T (p.Asp112Tyr)
c.559G>T (p.Asp187Tyr)
n.716G>T
c.*32G>T (n.*32G>T)
 ClinVar dbSNP gnomAD v4
16g.1985970A>CCA394304440GFERc.335A>C (p.Asp112Ala)
c.560A>C (p.Asp187Ala)
n.717A>C
c.*33A>C (n.*33A>C)
16g.1985970A>GCA394304442GFERc.335A>G (p.Asp112Gly)
c.560A>G (p.Asp187Gly)
n.717A>G
c.*33A>G (n.*33A>G)
16g.1985970A>TCA394304445GFERc.335A>T (p.Asp112Val)
c.560A>T (p.Asp187Val)
n.717A>T
c.*33A>T (n.*33A>T)
16g.1985971C>ACA394304447GFERc.336C>A (p.Asp112Glu)
c.561C>A (p.Asp187Glu)
n.718C>A
c.*34C>A (n.*34C>A)
16g.1985971C>GCA394304454GFERc.336C>G (p.Asp112Glu)
c.561C>G (p.Asp187Glu)
n.718C>G
c.*34C>G (n.*34C>G)
16g.1985971C>TCA492950244GFERc.336C>T (p.Asp112=)
c.561C>T (p.Asp187=)
n.718C>T
c.*34C>T (n.*34C>T)
16g.1985972T>ACA394304456GFERc.337T>A (p.Cys113Ser)
c.562T>A (p.Cys188Ser)
n.719T>A
c.*35T>A (n.*35T>A)
16g.1985972T>CCA394304463GFERc.337T>C (p.Cys113Arg)
c.562T>C (p.Cys188Arg)
n.719T>C
c.*35T>C (n.*35T>C)
16g.1985972T>GCA394304470GFERc.337T>G (p.Cys113Gly)
c.562T>G (p.Cys188Gly)
n.719T>G
c.*35T>G (n.*35T>G)
16g.1985973G>ACA394304472GFERc.338G>A (p.Cys113Tyr)
c.563G>A (p.Cys188Tyr)
n.720G>A
c.*36G>A (n.*36G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.1985973G>CCA394304474GFERc.338G>C (p.Cys113Ser)
c.563G>C (p.Cys188Ser)
n.720G>C
c.*36G>C (n.*36G>C)
 gnomAD v4
16g.1985973G=CA2201967805GFERc.338G= (p.Cys113=)
c.563G= (p.Cys188=)
n.720G=
c.*36G= (n.*36G=)
16g.1985973G>TCA7826090GFERc.338G>T (p.Cys113Phe)
c.563G>T (p.Cys188Phe)
n.720G>T
c.*36G>T (n.*36G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985974C>ACA394304487GFERc.339C>A (p.Cys113Ter)
c.564C>A (p.Cys188Ter)
n.721C>A
c.*37C>A (n.*37C>A)
 COSMIC
16g.1985974C>GCA394304490GFERc.339C>G (p.Cys113Trp)
c.564C>G (p.Cys188Trp)
n.721C>G
c.*37C>G (n.*37C>G)
16g.1985974C>TCA492950249GFERc.339C>T (p.Cys113=)
c.564C>T (p.Cys188=)
n.721C>T
c.*37C>T (n.*37C>T)
16g.1985975_1985976delCA492950250GFERc.340_341del (p.Ser114LysfsTer4)
c.565_566del (p.Ser189LysfsTer4)
n.722_723del
c.*38_*39del (n.*38_*39del)
16g.1985975T>ACA394304494GFERc.340T>A (p.Ser114Thr)
c.565T>A (p.Ser189Thr)
n.722T>A
c.*38T>A (n.*38T>A)
16g.1985975T>CCA7826091GFERc.340T>C (p.Ser114Pro)
c.565T>C (p.Ser189Pro)
n.722T>C
c.*38T>C (n.*38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985975T>GCA394304501GFERc.340T>G (p.Ser114Ala)
c.565T>G (p.Ser189Ala)
n.722T>G
c.*38T>G (n.*38T>G)
 gnomAD v4
16g.1985975T=CA2201967807GFERc.340T= (p.Ser114=)
c.565T= (p.Ser189=)
n.722T=
c.*38T= (n.*38T=)
16g.1985976C>ACA394304505GFERc.341C>A (p.Ser114Ter)
c.566C>A (p.Ser189Ter)
n.723C>A
c.*39C>A (n.*39C>A)
 gnomAD v4
16g.1985976C=CA2201967810GFERc.341C= (p.Ser114=)
c.566C= (p.Ser189=)
n.723C=
c.*39C= (n.*39C=)
16g.1985976C>GCA7826092GFERc.341C>G (p.Ser114Ter)
c.566C>G (p.Ser189Ter)
n.723C>G
c.*39C>G (n.*39C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985976C>TCA394304511GFERc.341C>T (p.Ser114Leu)
c.566C>T (p.Ser189Leu)
n.723C>T
c.*39C>T (n.*39C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.1985977A=CA2201967812GFERc.342A= (p.Ser114=)
c.567A= (p.Ser189=)
n.724A=
c.*40A= (n.*40A=)
16g.1985977A>CCA492950260GFERc.342A>C (p.Ser114=)
c.567A>C (p.Ser189=)
n.724A>C
c.*40A>C (n.*40A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.1985977A>GCA492950261GFERc.342A>G (p.Ser114=)
c.567A>G (p.Ser189=)
n.724A>G
c.*40A>G (n.*40A>G)
 gnomAD v4
16g.1985977A>TCA492950262GFERc.342A>T (p.Ser114=)
c.567A>T (p.Ser189=)
n.724A>T
c.*40A>T (n.*40A>T)
16g.1985977_1985980dupCA492950259GFERc.342_345dup (p.Val116LysfsTer4)
c.567_570dup (p.Val191LysfsTer4)
n.724_727dup
c.*40_*43dup (n.*40_*43dup)
16g.1985978A>CCA394304513GFERc.343A>C (p.Lys115Gln)
c.568A>C (p.Lys190Gln)
n.725A>C
c.*41A>C (n.*41A>C)
16g.1985978A>GCA394304517GFERc.343A>G (p.Lys115Glu)
c.568A>G (p.Lys190Glu)
n.725A>G
c.*41A>G (n.*41A>G)
16g.1985978A>TCA394304521GFERc.343A>T (p.Lys115Ter)
c.568A>T (p.Lys190Ter)
n.725A>T
c.*41A>T (n.*41A>T)
16g.1985979A=CA2201967814GFERc.344A= (p.Lys115=)
c.569A= (p.Lys190=)
n.726A=
c.*42A= (n.*42A=)
16g.1985979A>CCA7826093GFERc.344A>C (p.Lys115Thr)
c.569A>C (p.Lys190Thr)
n.726A>C
c.*42A>C (n.*42A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985979A>GCA394304526GFERc.344A>G (p.Lys115Arg)
c.569A>G (p.Lys190Arg)
n.726A>G
c.*42A>G (n.*42A>G)
16g.1985979A>TCA394304527GFERc.344A>T (p.Lys115Ile)
c.569A>T (p.Lys190Ile)
n.726A>T
c.*42A>T (n.*42A>T)
16g.1985980A>CCA394304530GFERc.345A>C (p.Lys115Asn)
c.570A>C (p.Lys190Asn)
n.727A>C
c.*43A>C (n.*43A>C)
16g.1985980A>GCA492950266GFERc.345A>G (p.Lys115=)
c.570A>G (p.Lys190=)
n.727A>G
c.*43A>G (n.*43A>G)
16g.1985980A>TCA394304532GFERc.345A>T (p.Lys115Asn)
c.570A>T (p.Lys190Asn)
n.727A>T
c.*43A>T (n.*43A>T)
16g.1985981G>ACA7826094GFERc.346G>A (p.Val116Met)
c.571G>A (p.Val191Met)
n.728G>A
c.*44G>A (n.*44G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.1985981G>CCA394304536GFERc.346G>C (p.Val116Leu)
c.571G>C (p.Val191Leu)
n.728G>C
c.*44G>C (n.*44G>C)
16g.1985981G=CA2201967817GFERc.346G= (p.Val116=)
c.571G= (p.Val191=)
n.728G=
c.*44G= (n.*44G=)
16g.1985981G>TCA394304538GFERc.346G>T (p.Val116Leu)
c.571G>T (p.Val191Leu)
n.728G>T
c.*44G>T (n.*44G>T)
16g.1985982T>ACA394304539GFERc.347T>A (p.Val116Glu)
c.572T>A (p.Val191Glu)
n.729T>A
c.*45T>A (n.*45T>A)
16g.1985982T>CCA394304540GFERc.347T>C (p.Val116Ala)
c.572T>C (p.Val191Ala)
n.729T>C
c.*45T>C (n.*45T>C)
 gnomAD v4
16g.1985982T>GCA394304541GFERc.347T>G (p.Val116Gly)
c.572T>G (p.Val191Gly)
n.729T>G
c.*45T>G (n.*45T>G)
16g.1985983G>ACA492950269GFERc.348G>A (p.Val116=)
c.573G>A (p.Val191=)
n.730G>A
c.*46G>A (n.*46G>A)
16g.1985983G>CCA492950271GFERc.348G>C (p.Val116=)
c.573G>C (p.Val191=)
n.730G>C
c.*46G>C (n.*46G>C)
16g.1985983G>TCA492950272GFERc.348G>T (p.Val116=)
c.573G>T (p.Val191=)
n.730G>T
c.*46G>T (n.*46G>T)
 gnomAD v4
16g.1985984G>ACA394304552GFERc.349G>A (p.Asp117Asn)
c.574G>A (p.Asp192Asn)
n.731G>A
c.*47G>A (n.*47G>A)
16g.1985984G>CCA394304545GFERc.349G>C (p.Asp117His)
c.574G>C (p.Asp192His)
n.731G>C
c.*47G>C (n.*47G>C)
16g.1985984G>TCA394304546GFERc.349G>T (p.Asp117Tyr)
c.574G>T (p.Asp192Tyr)
n.731G>T
c.*47G>T (n.*47G>T)
 gnomAD v4 COSMIC
16g.1985985A=CA2201967819GFERc.350A= (p.Asp117=)
c.575A= (p.Asp192=)
n.732A=
c.*48A= (n.*48A=)
16g.1985985A>CCA394304554GFERc.350A>C (p.Asp117Ala)
c.575A>C (p.Asp192Ala)
n.732A>C
c.*48A>C (n.*48A>C)
16g.1985985A>GCA394304558GFERc.350A>G (p.Asp117Gly)
c.575A>G (p.Asp192Gly)
n.732A>G
c.*48A>G (n.*48A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1985985A>TCA394304560GFERc.350A>T (p.Asp117Val)
c.575A>T (p.Asp192Val)
n.732A>T
c.*48A>T (n.*48A>T)
16g.1985986T>ACA394304563GFERc.351T>A (p.Asp117Glu)
c.576T>A (p.Asp192Glu)
n.733T>A
c.*49T>A (n.*49T>A)
16g.1985986T>CCA276773548GFERc.351T>C (p.Asp117=)
c.576T>C (p.Asp192=)
n.733T>C
c.*49T>C (n.*49T>C)
 ClinVar dbSNP gnomAD v4
16g.1985986T>GCA394304565GFERc.351T>G (p.Asp117Glu)
c.576T>G (p.Asp192Glu)
n.733T>G
c.*49T>G (n.*49T>G)
16g.1985986T=CA2201967821GFERc.351T= (p.Asp117=)
c.576T= (p.Asp192=)
n.733T=
c.*49T= (n.*49T=)
16g.1985987G>ACA394304567GFERc.352G>A (p.Glu118Lys)
c.577G>A (p.Glu193Lys)
n.734G>A
c.*50G>A (n.*50G>A)
 dbSNP
16g.1985987G>CCA394304573GFERc.352G>C (p.Glu118Gln)
c.577G>C (p.Glu193Gln)
n.734G>C
c.*50G>C (n.*50G>C)
16g.1985987G=CA2201967823GFERc.352G= (p.Glu118=)
c.577G= (p.Glu193=)
n.734G=
c.*50G= (n.*50G=)
16g.1985987G>TCA394304569GFERc.352G>T (p.Glu118Ter)
c.577G>T (p.Glu193Ter)
n.734G>T
c.*50G>T (n.*50G>T)
16g.1985988A>CCA394304575GFERc.353A>C (p.Glu118Ala)
c.578A>C (p.Glu193Ala)
n.735A>C
c.*51A>C (n.*51A>C)
16g.1985988A>GCA394304578GFERc.353A>G (p.Glu118Gly)
c.578A>G (p.Glu193Gly)
n.735A>G
c.*51A>G (n.*51A>G)
16g.1985988A>TCA394304582GFERc.353A>T (p.Glu118Val)
c.578A>T (p.Glu193Val)
n.735A>T
c.*51A>T (n.*51A>T)
16g.1985989G>ACA492950280GFERc.354G>A (p.Glu118=)
c.579G>A (p.Glu193=)
n.736G>A
c.*52G>A (n.*52G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1985989G>CCA394304585GFERc.354G>C (p.Glu118Asp)
c.579G>C (p.Glu193Asp)
n.736G>C
c.*52G>C (n.*52G>C)
 dbSNP
16g.1985989G=CA2201967825GFERc.354G= (p.Glu118=)
c.579G= (p.Glu193=)
n.736G=
c.*52G= (n.*52G=)
16g.1985989G>TCA394304595GFERc.354G>T (p.Glu118Asp)
c.579G>T (p.Glu193Asp)
n.736G>T
c.*52G>T (n.*52G>T)
16g.1985990C>ACA394304598GFERc.355C>A (p.Arg119Ser)
c.580C>A (p.Arg194Ser)
n.737C>A
c.*53C>A (n.*53C>A)
16g.1985990C=CA2201967826GFERc.355C= (p.Arg119=)
c.580C= (p.Arg194=)
n.737C=
c.*53C= (n.*53C=)
16g.1985990C>GCA394304600GFERc.355C>G (p.Arg119Gly)
c.580C>G (p.Arg194Gly)
n.737C>G
c.*53C>G (n.*53C>G)
16g.1985990C>TCA7826095GFERc.355C>T (p.Arg119Cys)
c.580C>T (p.Arg194Cys)
n.737C>T
c.*53C>T (n.*53C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985991G>ACA119839GFERc.356G>A (p.Arg119His)
c.581G>A (p.Arg194His)
n.738G>A
c.*54G>A (n.*54G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985991G>CCA394304605GFERc.356G>C (p.Arg119Pro)
c.581G>C (p.Arg194Pro)
n.738G>C
c.*54G>C (n.*54G>C)
16g.1985991G=CA2201967828GFERc.356G= (p.Arg119=)
c.581G= (p.Arg194=)
n.738G=
c.*54G= (n.*54G=)
16g.1985991G>TCA394304609GFERc.356G>T (p.Arg119Leu)
c.581G>T (p.Arg194Leu)
n.738G>T
c.*54G>T (n.*54G>T)
16g.1985992C>ACA492950289GFERc.357C>A (p.Arg119=)
c.582C>A (p.Arg194=)
n.739C>A
c.*55C>A (n.*55C>A)
16g.1985992C>GCA492950290GFERc.357C>G (p.Arg119=)
c.582C>G (p.Arg194=)
n.739C>G
c.*55C>G (n.*55C>G)
16g.1985992C>TCA492950287GFERc.357C>T (p.Arg119=)
c.582C>T (p.Arg194=)
n.739C>T
c.*55C>T (n.*55C>T)
16g.1985993T>ACA394304613GFERc.358T>A (p.Trp120Arg)
c.583T>A (p.Trp195Arg)
n.740T>A
c.*56T>A (n.*56T>A)
16g.1985993T>CCA394304615GFERc.358T>C (p.Trp120Arg)
c.583T>C (p.Trp195Arg)
n.740T>C
c.*56T>C (n.*56T>C)
16g.1985993T>GCA394304612GFERc.358T>G (p.Trp120Gly)
c.583T>G (p.Trp195Gly)
n.740T>G
c.*56T>G (n.*56T>G)
16g.1985994G>ACA7826096GFERc.359G>A (p.Trp120Ter)
c.584G>A (p.Trp195Ter)
n.741G>A
c.*57G>A (n.*57G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1985994G>CCA394304621GFERc.359G>C (p.Trp120Ser)
c.584G>C (p.Trp195Ser)
n.741G>C
c.*57G>C (n.*57G>C)
16g.1985994G=CA2201967831GFERc.359G= (p.Trp120=)
c.584G= (p.Trp195=)
n.741G=
c.*57G= (n.*57G=)
16g.1985994G>TCA394304618GFERc.359G>T (p.Trp120Leu)
c.584G>T (p.Trp195Leu)
n.741G>T
c.*57G>T (n.*57G>T)
16g.1985995G>ACA394304623GFERc.360G>A (p.Trp120Ter)
c.585G>A (p.Trp195Ter)
n.742G>A
c.*58G>A (n.*58G>A)
16g.1985995G>CCA394304636GFERc.360G>C (p.Trp120Cys)
c.585G>C (p.Trp195Cys)
n.742G>C
c.*58G>C (n.*58G>C)
 gnomAD v4
16g.1985995G>TCA394304634GFERc.360G>T (p.Trp120Cys)
c.585G>T (p.Trp195Cys)
n.742G>T
c.*58G>T (n.*58G>T)
16g.1985996C>ACA394304637GFERc.361C>A (p.Arg121Ser)
c.586C>A (p.Arg196Ser)
n.743C>A
c.*59C>A (n.*59C>A)
16g.1985996C=CA2201967834GFERc.361C= (p.Arg121=)
c.586C= (p.Arg196=)
n.743C=
c.*59C= (n.*59C=)
16g.1985996C>GCA394304640GFERc.361C>G (p.Arg121Gly)
c.586C>G (p.Arg196Gly)
n.743C>G
c.*59C>G (n.*59C>G)
16g.1985996C>TCA7826097GFERc.361C>T (p.Arg121Cys)
c.586C>T (p.Arg196Cys)
n.743C>T
c.*59C>T (n.*59C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985997G>ACA7826098GFERc.362G>A (p.Arg121His)
c.587G>A (p.Arg196His)
n.744G>A
c.*60G>A (n.*60G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985997G>CCA394304641GFERc.362G>C (p.Arg121Pro)
c.587G>C (p.Arg196Pro)
n.744G>C
c.*60G>C (n.*60G>C)
16g.1985997G=CA2201967838GFERc.362G= (p.Arg121=)
c.587G= (p.Arg196=)
n.744G=
c.*60G= (n.*60G=)
16g.1985997G>TCA394304642GFERc.362G>T (p.Arg121Leu)
c.587G>T (p.Arg196Leu)
n.744G>T
c.*60G>T (n.*60G>T)
16g.1985998C>ACA492950297GFERc.363C>A (p.Arg121=)
c.588C>A (p.Arg196=)
n.745C>A
c.*61C>A (n.*61C>A)
16g.1985998C=CA2201967840GFERc.363C= (p.Arg121=)
c.588C= (p.Arg196=)
n.745C=
c.*61C= (n.*61C=)
16g.1985998C>GCA492950298GFERc.363C>G (p.Arg121=)
c.588C>G (p.Arg196=)
n.745C>G
c.*61C>G (n.*61C>G)
 gnomAD v4
16g.1985998C>TCA7826099GFERc.363C>T (p.Arg121=)
c.588C>T (p.Arg196=)
n.745C>T
c.*61C>T (n.*61C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985999G>ACA7826100GFERc.364G>A (p.Asp122Asn)
c.589G>A (p.Asp197Asn)
n.746G>A
c.*62G>A (n.*62G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1985999G>CCA394304646GFERc.364G>C (p.Asp122His)
c.589G>C (p.Asp197His)
n.746G>C
c.*62G>C (n.*62G>C)
16g.1985999G=CA2201967843GFERc.364G= (p.Asp122=)
c.589G= (p.Asp197=)
n.746G=
c.*62G= (n.*62G=)
16g.1985999G>TCA394304649GFERc.364G>T (p.Asp122Tyr)
c.589G>T (p.Asp197Tyr)
n.746G>T
c.*62G>T (n.*62G>T)
 gnomAD v4
16g.1986000A>CCA394304651GFERc.365A>C (p.Asp122Ala)
c.590A>C (p.Asp197Ala)
n.747A>C
c.*63A>C (n.*63A>C)
16g.1986000A>GCA394304652GFERc.365A>G (p.Asp122Gly)
c.590A>G (p.Asp197Gly)
n.747A>G
c.*63A>G (n.*63A>G)
16g.1986000A>TCA394304653GFERc.365A>T (p.Asp122Val)
c.590A>T (p.Asp197Val)
n.747A>T
c.*63A>T (n.*63A>T)
16g.1986001C>ACA394304654GFERc.366C>A (p.Asp122Glu)
c.591C>A (p.Asp197Glu)
n.748C>A
c.*64C>A (n.*64C>A)
16g.1986001C=CA2201967845GFERc.366C= (p.Asp122=)
c.591C= (p.Asp197=)
n.748C=
c.*64C= (n.*64C=)
16g.1986001C>GCA7826102GFERc.366C>G (p.Asp122Glu)
c.591C>G (p.Asp197Glu)
n.748C>G
c.*64C>G (n.*64C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1986001C>TCA7826101GFERc.366C>T (p.Asp122=)
c.591C>T (p.Asp197=)
n.748C>T
c.*64C>T (n.*64C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1986002G>ACA320714GFERc.367G>A (p.Gly123Ser)
c.592G>A (p.Gly198Ser)
n.749G>A
c.*65G>A (n.*65G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1986002G>CCA394304660GFERc.367G>C (p.Gly123Arg)
c.592G>C (p.Gly198Arg)
n.749G>C
c.*65G>C (n.*65G>C)
16g.1986002G=CA2201967850GFERc.367G= (p.Gly123=)
c.592G= (p.Gly198=)
n.749G=
c.*65G= (n.*65G=)
16g.1986002G>TCA394304663GFERc.367G>T (p.Gly123Cys)
c.592G>T (p.Gly198Cys)
n.749G>T
c.*65G>T (n.*65G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.1986003G>ACA394304666GFERc.368G>A (p.Gly123Asp)
c.593G>A (p.Gly198Asp)
n.750G>A
c.*66G>A (n.*66G>A)
16g.1986003G>CCA394304668GFERc.368G>C (p.Gly123Ala)
c.593G>C (p.Gly198Ala)
n.750G>C
c.*66G>C (n.*66G>C)
 dbSNP gnomAD v2 gnomAD v4
16g.1986003G=CA2201967852GFERc.368G= (p.Gly123=)
c.593G= (p.Gly198=)
n.750G=
c.*66G= (n.*66G=)
16g.1986003G>TCA394304677GFERc.368G>T (p.Gly123Val)
c.593G>T (p.Gly198Val)
n.750G>T
c.*66G>T (n.*66G>T)
16g.1986004C>ACA492950302GFERc.369C>A (p.Gly123=)
c.594C>A (p.Gly198=)
n.751C>A
c.*67C>A (n.*67C>A)
16g.1986004C>GCA492950303GFERc.369C>G (p.Gly123=)
c.594C>G (p.Gly198=)
n.751C>G
c.*67C>G (n.*67C>G)
 gnomAD v4
16g.1986004C>TCA492950304GFERc.369C>T (p.Gly123=)
c.594C>T (p.Gly198=)
n.751C>T
c.*67C>T (n.*67C>T)
16g.1986005T>ACA394304683GFERc.370T>A (p.Trp124Arg)
c.595T>A (p.Trp199Arg)
n.752T>A
c.*68T>A (n.*68T>A)
16g.1986005T>CCA394304685GFERc.370T>C (p.Trp124Arg)
c.595T>C (p.Trp199Arg)
n.752T>C
c.*68T>C (n.*68T>C)
 gnomAD v4
16g.1986005T>GCA394304688GFERc.370T>G (p.Trp124Gly)
c.595T>G (p.Trp199Gly)
n.752T>G
c.*68T>G (n.*68T>G)
16g.1986006G>ACA394304694GFERc.371G>A (p.Trp124Ter)
c.596G>A (p.Trp199Ter)
n.753G>A
c.*69G>A (n.*69G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.1986006G>CCA394304692GFERc.371G>C (p.Trp124Ser)
c.596G>C (p.Trp199Ser)
n.753G>C
c.*69G>C (n.*69G>C)
 dbSNP
16g.1986006G=CA2201967853GFERc.371G= (p.Trp124=)
c.596G= (p.Trp199=)
n.753G=
c.*69G= (n.*69G=)
16g.1986006G>TCA394304690GFERc.371G>T (p.Trp124Leu)
c.596G>T (p.Trp199Leu)
n.753G>T
c.*69G>T (n.*69G>T)
 COSMIC
16g.1986007G>ACA7826103GFERc.372G>A (p.Trp124Ter)
c.597G>A (p.Trp199Ter)
n.754G>A
c.*70G>A (n.*70G>A)
 dbSNP ExAC gnomAD v2
16g.1986007G>CCA394304700GFERc.372G>C (p.Trp124Cys)
c.597G>C (p.Trp199Cys)
n.754G>C
c.*70G>C (n.*70G>C)
16g.1986007G=CA2201967856GFERc.372G= (p.Trp124=)
c.597G= (p.Trp199=)
n.754G=
c.*70G= (n.*70G=)
16g.1986007G>TCA394304704GFERc.372G>T (p.Trp124Cys)
c.597G>T (p.Trp199Cys)
n.754G>T
c.*70G>T (n.*70G>T)
16g.1986008A>CCA394304706GFERc.373A>C (p.Lys125Gln)
c.598A>C (p.Lys200Gln)
n.755A>C
c.*71A>C (n.*71A>C)
16g.1986008A>GCA394304711GFERc.373A>G (p.Lys125Glu)
c.598A>G (p.Lys200Glu)
n.755A>G
c.*71A>G (n.*71A>G)
16g.1986008A>TCA394304713GFERc.373A>T (p.Lys125Ter)
c.598A>T (p.Lys200Ter)
n.755A>T
c.*71A>T (n.*71A>T)
16g.1986009A>CCA394304716GFERc.374A>C (p.Lys125Thr)
c.599A>C (p.Lys200Thr)
n.756A>C
c.*72A>C (n.*72A>C)
16g.1986009A>GCA394304719GFERc.374A>G (p.Lys125Arg)
c.599A>G (p.Lys200Arg)
n.756A>G
c.*72A>G (n.*72A>G)
16g.1986009A>TCA394304720GFERc.374A>T (p.Lys125Met)
c.599A>T (p.Lys200Met)
n.756A>T
c.*72A>T (n.*72A>T)
16g.1986010G>ACA7826104GFERc.375G>A (p.Lys125=)
c.600G>A (p.Lys200=)
n.757G>A
c.*73G>A (n.*73G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1986010G>CCA394304728GFERc.375G>C (p.Lys125Asn)
c.600G>C (p.Lys200Asn)
n.757G>C
c.*73G>C (n.*73G>C)
16g.1986010G=CA2201967862GFERc.375G= (p.Lys125=)
c.600G= (p.Lys200=)
n.757G=
c.*73G= (n.*73G=)
16g.1986010G>TCA394304730GFERc.375G>T (p.Lys125Asn)
c.600G>T (p.Lys200Asn)
n.757G>T
c.*73G>T (n.*73G>T)
16g.1986011G>ACA7826105GFERc.376G>A (p.Asp126Asn)
c.601G>A (p.Asp201Asn)
n.758G>A
c.*74G>A (n.*74G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1986011G>CCA7826106GFERc.376G>C (p.Asp126His)
c.601G>C (p.Asp201His)
n.758G>C
c.*74G>C (n.*74G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1986011G=CA2201967867GFERc.376G= (p.Asp126=)
c.601G= (p.Asp201=)
n.758G=
c.*74G= (n.*74G=)
16g.1986011G>TCA394304735GFERc.376G>T (p.Asp126Tyr)
c.601G>T (p.Asp201Tyr)
n.758G>T
c.*74G>T (n.*74G>T)
16g.1986012A=CA2201967870GFERc.377A= (p.Asp126=)
c.602A= (p.Asp201=)
n.759A=
c.*75A= (n.*75A=)
16g.1986012A>CCA7826107GFERc.377A>C (p.Asp126Ala)
c.602A>C (p.Asp201Ala)
n.759A>C
c.*75A>C (n.*75A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1986012A>GCA394304742GFERc.377A>G (p.Asp126Gly)
c.602A>G (p.Asp201Gly)
n.759A>G
c.*75A>G (n.*75A>G)
16g.1986012A>TCA394304746GFERc.377A>T (p.Asp126Val)
c.602A>T (p.Asp201Val)
n.759A>T
c.*75A>T (n.*75A>T)
16g.1986013T>ACA394304749GFERc.378T>A (p.Asp126Glu)
c.603T>A (p.Asp201Glu)
n.760T>A
c.*76T>A (n.*76T>A)
16g.1986013T>CCA492950315GFERc.378T>C (p.Asp126=)
c.603T>C (p.Asp201=)
n.760T>C
c.*76T>C (n.*76T>C)
16g.1986013T>GCA394304751GFERc.378T>G (p.Asp126Glu)
c.603T>G (p.Asp201Glu)
n.760T>G
c.*76T>G (n.*76T>G)

Number of alleles fetched