Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71441299_71441301dupCA2614860516DHCR7c.554_556dup (p.Asn185_Ile186insAsn)
c.380_382dup (p.Asn127_Ile128insAsn)
c.590_592dup (p.Asn197_Ile198insAsn)
n.831_833dup
c.-32_-30dup (n.-32_-30dup)
c.458_460dup (p.Asn153_Ile154insAsn)
n.49_51dup
 gnomAD v4
11g.71441301G>ACA475518299DHCR7c.552C>T (p.Ala184=)
c.378C>T (p.Ala126=)
c.588C>T (p.Ala196=)
n.829C>T
c.-34C>T (n.-34C>T)
c.456C>T (p.Ala152=)
n.47C>T
 ClinVar dbSNP
11g.71441301G>CCA475518301DHCR7c.552C>G (p.Ala184=)
c.378C>G (p.Ala126=)
c.588C>G (p.Ala196=)
n.829C>G
c.-34C>G (n.-34C>G)
c.456C>G (p.Ala152=)
n.47C>G
11g.71441301G=CA1981489714DHCR7c.552C= (p.Ala184=)
c.378C= (p.Ala126=)
c.588C= (p.Ala196=)
n.829C=
c.-34C= (n.-34C=)
c.456C= (p.Ala152=)
n.47C=
11g.71441301G>TCA475518300DHCR7c.552C>A (p.Ala184=)
c.378C>A (p.Ala126=)
c.588C>A (p.Ala196=)
n.829C>A
c.-34C>A (n.-34C>A)
c.456C>A (p.Ala152=)
n.47C>A
11g.71441302G>ACA381694441DHCR7c.551C>T (p.Ala184Val)
c.377C>T (p.Ala126Val)
c.587C>T (p.Ala196Val)
n.828C>T
c.-35C>T (n.-35C>T)
c.455C>T (p.Ala152Val)
n.46C>T
 gnomAD v4
11g.71441302G>CCA381694442DHCR7c.551C>G (p.Ala184Gly)
c.377C>G (p.Ala126Gly)
c.587C>G (p.Ala196Gly)
n.828C>G
c.-35C>G (n.-35C>G)
c.455C>G (p.Ala152Gly)
n.46C>G
11g.71441302G>TCA381694443DHCR7c.551C>A (p.Ala184Asp)
c.377C>A (p.Ala126Asp)
c.587C>A (p.Ala196Asp)
n.828C>A
c.-35C>A (n.-35C>A)
c.455C>A (p.Ala152Asp)
n.46C>A
11g.71441303C>ACA381694444DHCR7c.550G>T (p.Ala184Ser)
c.376G>T (p.Ala126Ser)
c.586G>T (p.Ala196Ser)
n.827G>T
c.-36G>T (n.-36G>T)
c.454G>T (p.Ala152Ser)
n.45G>T
11g.71441303C=CA1981489715DHCR7c.550G= (p.Ala184=)
c.376G= (p.Ala126=)
c.586G= (p.Ala196=)
n.827G=
c.-36G= (n.-36G=)
c.454G= (p.Ala152=)
n.45G=
11g.71441303C>GCA381694445DHCR7c.550G>C (p.Ala184Pro)
c.376G>C (p.Ala126Pro)
c.586G>C (p.Ala196Pro)
n.827G>C
c.-36G>C (n.-36G>C)
c.454G>C (p.Ala152Pro)
n.45G>C
11g.71441303C>TCA224279790DHCR7c.550G>A (p.Ala184Thr)
c.376G>A (p.Ala126Thr)
c.586G>A (p.Ala196Thr)
n.827G>A
c.-36G>A (n.-36G>A)
c.454G>A (p.Ala152Thr)
n.45G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441304G>ACA6162537DHCR7c.549C>T (p.Cys183=)
c.375C>T (p.Cys125=)
c.585C>T (p.Cys195=)
n.826C>T
c.-37C>T (n.-37C>T)
c.453C>T (p.Cys151=)
n.44C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441304G>CCA381694447DHCR7c.549C>G (p.Cys183Trp)
c.375C>G (p.Cys125Trp)
c.585C>G (p.Cys195Trp)
n.826C>G
c.-37C>G (n.-37C>G)
c.453C>G (p.Cys151Trp)
n.44C>G
11g.71441304G=CA1981489716DHCR7c.549C= (p.Cys183=)
c.375C= (p.Cys125=)
c.585C= (p.Cys195=)
n.826C=
c.-37C= (n.-37C=)
c.453C= (p.Cys151=)
n.44C=
11g.71441304G>TCA381694446DHCR7c.549C>A (p.Cys183Ter)
c.375C>A (p.Cys125Ter)
c.585C>A (p.Cys195Ter)
n.826C>A
c.-37C>A (n.-37C>A)
c.453C>A (p.Cys151Ter)
n.44C>A
11g.71441305C>ACA381694448DHCR7c.548G>T (p.Cys183Phe)
c.374G>T (p.Cys125Phe)
c.584G>T (p.Cys195Phe)
n.825G>T
c.-38G>T (n.-38G>T)
c.452G>T (p.Cys151Phe)
n.43G>T
11g.71441305C>GCA381694449DHCR7c.548G>C (p.Cys183Ser)
c.374G>C (p.Cys125Ser)
c.584G>C (p.Cys195Ser)
n.825G>C
c.-38G>C (n.-38G>C)
c.452G>C (p.Cys151Ser)
n.43G>C
11g.71441305C>TCA381694450DHCR7c.548G>A (p.Cys183Tyr)
c.374G>A (p.Cys125Tyr)
c.584G>A (p.Cys195Tyr)
n.825G>A
c.-38G>A (n.-38G>A)
c.452G>A (p.Cys151Tyr)
n.43G>A
 ClinVar dbSNP gnomAD v4
11g.71441308_71441310delCA2614860532DHCR7c.546_548del (p.Trp182del)
c.372_374del (p.Trp124del)
c.582_584del (p.Trp194del)
n.823_825del
c.-40_-38del (n.-40_-38del)
c.450_452del (p.Trp150del)
n.41_43del
 ClinVar gnomAD v4
11g.71441306A>CCA381694451DHCR7c.547T>G (p.Cys183Gly)
c.373T>G (p.Cys125Gly)
c.583T>G (p.Cys195Gly)
n.824T>G
c.-39T>G (n.-39T>G)
c.451T>G (p.Cys151Gly)
n.42T>G
11g.71441306A>GCA381694452DHCR7c.547T>C (p.Cys183Arg)
c.373T>C (p.Cys125Arg)
c.583T>C (p.Cys195Arg)
n.824T>C
c.-39T>C (n.-39T>C)
c.451T>C (p.Cys151Arg)
n.42T>C
11g.71441306A>TCA381694453DHCR7c.547T>A (p.Cys183Ser)
c.373T>A (p.Cys125Ser)
c.583T>A (p.Cys195Ser)
n.824T>A
c.-39T>A (n.-39T>A)
c.451T>A (p.Cys151Ser)
n.42T>A
11g.71441307C>ACA381694454DHCR7c.546G>T (p.Trp182Cys)
c.372G>T (p.Trp124Cys)
c.582G>T (p.Trp194Cys)
n.823G>T
c.-40G>T (n.-40G>T)
c.450G>T (p.Trp150Cys)
n.41G>T
 ClinVar
11g.71441307C=CA1981489717DHCR7c.546G= (p.Trp182=)
c.372G= (p.Trp124=)
c.582G= (p.Trp194=)
n.823G=
c.-40G= (n.-40G=)
c.450G= (p.Trp150=)
n.41G=
11g.71441307C>GCA381694455DHCR7c.546G>C (p.Trp182Cys)
c.372G>C (p.Trp124Cys)
c.582G>C (p.Trp194Cys)
n.823G>C
c.-40G>C (n.-40G>C)
c.450G>C (p.Trp150Cys)
n.41G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71441307C>TCA224279792DHCR7c.546G>A (p.Trp182Ter)
c.372G>A (p.Trp124Ter)
c.582G>A (p.Trp194Ter)
n.823G>A
c.-40G>A (n.-40G>A)
c.450G>A (p.Trp150Ter)
n.41G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441308C>ACA381694456DHCR7c.545G>T (p.Trp182Leu)
c.371G>T (p.Trp124Leu)
c.581G>T (p.Trp194Leu)
n.822G>T
c.-41G>T (n.-41G>T)
c.449G>T (p.Trp150Leu)
n.40G>T
 dbSNP
11g.71441308C=CA1981489718DHCR7c.545G= (p.Trp182=)
c.371G= (p.Trp124=)
c.581G= (p.Trp194=)
n.822G=
c.-41G= (n.-41G=)
c.449G= (p.Trp150=)
n.40G=
11g.71441308C>GCA381694457DHCR7c.545G>C (p.Trp182Ser)
c.371G>C (p.Trp124Ser)
c.581G>C (p.Trp194Ser)
n.822G>C
c.-41G>C (n.-41G>C)
c.449G>C (p.Trp150Ser)
n.40G>C
11g.71441308C>TCA6162538DHCR7c.545G>A (p.Trp182Ter)
c.371G>A (p.Trp124Ter)
c.581G>A (p.Trp194Ter)
n.822G>A
c.-41G>A (n.-41G>A)
c.449G>A (p.Trp150Ter)
n.40G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441309A>CCA381694460DHCR7c.544T>G (p.Trp182Gly)
c.370T>G (p.Trp124Gly)
c.580T>G (p.Trp194Gly)
n.821T>G
c.-42T>G (n.-42T>G)
c.448T>G (p.Trp150Gly)
n.39T>G
11g.71441309A>GCA381694459DHCR7c.544T>C (p.Trp182Arg)
c.370T>C (p.Trp124Arg)
c.580T>C (p.Trp194Arg)
n.821T>C
c.-42T>C (n.-42T>C)
c.448T>C (p.Trp150Arg)
n.39T>C
 gnomAD v4
11g.71441309A>TCA381694458DHCR7c.544T>A (p.Trp182Arg)
c.370T>A (p.Trp124Arg)
c.580T>A (p.Trp194Arg)
n.821T>A
c.-42T>A (n.-42T>A)
c.448T>A (p.Trp150Arg)
n.39T>A
11g.71441310C>ACA475518302DHCR7c.543G>T (p.Leu181=)
c.369G>T (p.Leu123=)
c.579G>T (p.Leu193=)
n.820G>T
c.-43G>T (n.-43G>T)
c.447G>T (p.Leu149=)
n.38G>T
11g.71441310C=CA1981489719DHCR7c.543G= (p.Leu181=)
c.369G= (p.Leu123=)
c.579G= (p.Leu193=)
n.820G=
c.-43G= (n.-43G=)
c.447G= (p.Leu149=)
n.38G=
11g.71441310C>GCA6162539DHCR7c.543G>C (p.Leu181=)
c.369G>C (p.Leu123=)
c.579G>C (p.Leu193=)
n.820G>C
c.-43G>C (n.-43G>C)
c.447G>C (p.Leu149=)
n.38G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441310C>TCA475518303DHCR7c.543G>A (p.Leu181=)
c.369G>A (p.Leu123=)
c.579G>A (p.Leu193=)
n.820G>A
c.-43G>A (n.-43G>A)
c.447G>A (p.Leu149=)
n.38G>A
 dbSNP gnomAD v3 gnomAD v4
11g.71441313_71441315delCA2614860549DHCR7c.541_543del (p.Leu181del)
c.367_369del (p.Leu123del)
c.577_579del (p.Leu193del)
n.818_820del
c.-45_-43del (n.-45_-43del)
c.445_447del (p.Leu149del)
n.36_38del
 gnomAD v4
11g.71441311A=CA1981489720DHCR7c.542T= (p.Leu181=)
c.368T= (p.Leu123=)
c.578T= (p.Leu193=)
n.819T=
c.-44T= (n.-44T=)
c.446T= (p.Leu149=)
n.37T=
11g.71441311A>CCA381694463DHCR7c.542T>G (p.Leu181Arg)
c.368T>G (p.Leu123Arg)
c.578T>G (p.Leu193Arg)
n.819T>G
c.-44T>G (n.-44T>G)
c.446T>G (p.Leu149Arg)
n.37T>G
11g.71441311A>GCA381694461DHCR7c.542T>C (p.Leu181Pro)
c.368T>C (p.Leu123Pro)
c.578T>C (p.Leu193Pro)
n.819T>C
c.-44T>C (n.-44T>C)
c.446T>C (p.Leu149Pro)
n.37T>C
 dbSNP gnomAD v2 gnomAD v4
11g.71441311A>TCA381694462DHCR7c.542T>A (p.Leu181Gln)
c.368T>A (p.Leu123Gln)
c.578T>A (p.Leu193Gln)
n.819T>A
c.-44T>A (n.-44T>A)
c.446T>A (p.Leu149Gln)
n.37T>A
11g.71441312G>ACA475518304DHCR7c.541C>T (p.Leu181=)
c.367C>T (p.Leu123=)
c.577C>T (p.Leu193=)
n.818C>T
c.-45C>T (n.-45C>T)
c.445C>T (p.Leu149=)
n.36C>T
11g.71441312G>CCA381694464DHCR7c.541C>G (p.Leu181Val)
c.367C>G (p.Leu123Val)
c.577C>G (p.Leu193Val)
n.818C>G
c.-45C>G (n.-45C>G)
c.445C>G (p.Leu149Val)
n.36C>G
11g.71441312G>TCA381694465DHCR7c.541C>A (p.Leu181Met)
c.367C>A (p.Leu123Met)
c.577C>A (p.Leu193Met)
n.818C>A
c.-45C>A (n.-45C>A)
c.445C>A (p.Leu149Met)
n.36C>A
11g.71441313C>ACA475518305DHCR7c.540G>T (p.Leu180=)
c.366G>T (p.Leu122=)
c.576G>T (p.Leu192=)
n.817G>T
c.-46G>T (n.-46G>T)
c.444G>T (p.Leu148=)
n.35G>T
11g.71441313C>GCA475518307DHCR7c.540G>C (p.Leu180=)
c.366G>C (p.Leu122=)
c.576G>C (p.Leu192=)
n.817G>C
c.-46G>C (n.-46G>C)
c.444G>C (p.Leu148=)
n.35G>C
11g.71441313C>TCA475518306DHCR7c.540G>A (p.Leu180=)
c.366G>A (p.Leu122=)
c.576G>A (p.Leu192=)
n.817G>A
c.-46G>A (n.-46G>A)
c.444G>A (p.Leu148=)
n.35G>A
 gnomAD v4
11g.71441314A=CA1981489721DHCR7c.539T= (p.Leu180=)
c.365T= (p.Leu122=)
c.575T= (p.Leu192=)
n.816T=
c.-47T= (n.-47T=)
c.443T= (p.Leu148=)
n.34T=
11g.71441314A>CCA381694466DHCR7c.539T>G (p.Leu180Arg)
c.365T>G (p.Leu122Arg)
c.575T>G (p.Leu192Arg)
n.816T>G
c.-47T>G (n.-47T>G)
c.443T>G (p.Leu148Arg)
n.34T>G
11g.71441314A>GCA381694467DHCR7c.539T>C (p.Leu180Pro)
c.365T>C (p.Leu122Pro)
c.575T>C (p.Leu192Pro)
n.816T>C
c.-47T>C (n.-47T>C)
c.443T>C (p.Leu148Pro)
n.34T>C
11g.71441314A>TCA381694468DHCR7c.539T>A (p.Leu180Gln)
c.365T>A (p.Leu122Gln)
c.575T>A (p.Leu192Gln)
n.816T>A
c.-47T>A (n.-47T>A)
c.443T>A (p.Leu148Gln)
n.34T>A
11g.71441315G>ACA475518308DHCR7c.538C>T (p.Leu180=)
c.364C>T (p.Leu122=)
c.574C>T (p.Leu192=)
n.815C>T
c.-48C>T (n.-48C>T)
c.442C>T (p.Leu148=)
n.33C>T
 gnomAD v4
11g.71441315G>CCA381694469DHCR7c.538C>G (p.Leu180Val)
c.364C>G (p.Leu122Val)
c.574C>G (p.Leu192Val)
n.815C>G
c.-48C>G (n.-48C>G)
c.442C>G (p.Leu148Val)
n.33C>G
11g.71441315G>TCA381694470DHCR7c.538C>A (p.Leu180Met)
c.364C>A (p.Leu122Met)
c.574C>A (p.Leu192Met)
n.815C>A
c.-48C>A (n.-48C>A)
c.442C>A (p.Leu148Met)
n.33C>A
11g.71441316_71441318dupCA6162540DHCR7c.536_538dup (p.Pro179_Leu180insPro)
c.362_364dup (p.Pro121_Leu122insPro)
c.572_574dup (p.Pro191_Leu192insPro)
n.813_815dup
c.-50_-48dup (n.-50_-48dup)
c.440_442dup (p.Pro147_Leu148insPro)
n.31_33dup
 dbSNP ExAC
11g.71441316T>ACA475518309DHCR7c.537A>T (p.Pro179=)
c.363A>T (p.Pro121=)
c.573A>T (p.Pro191=)
n.814A>T
c.-49A>T (n.-49A>T)
c.441A>T (p.Pro147=)
n.32A>T
11g.71441316T>CCA475518310DHCR7c.537A>G (p.Pro179=)
c.363A>G (p.Pro121=)
c.573A>G (p.Pro191=)
n.814A>G
c.-49A>G (n.-49A>G)
c.441A>G (p.Pro147=)
n.32A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441316T>GCA475518311DHCR7c.537A>C (p.Pro179=)
c.363A>C (p.Pro121=)
c.573A>C (p.Pro191=)
n.814A>C
c.-49A>C (n.-49A>C)
c.441A>C (p.Pro147=)
n.32A>C
11g.71441316T=CA1981489722DHCR7c.537A= (p.Pro179=)
c.363A= (p.Pro121=)
c.573A= (p.Pro191=)
n.814A=
c.-49A= (n.-49A=)
c.441A= (p.Pro147=)
n.32A=
11g.71441317G>ACA381694471DHCR7c.536C>T (p.Pro179Leu)
c.362C>T (p.Pro121Leu)
c.572C>T (p.Pro191Leu)
n.813C>T
c.-50C>T (n.-50C>T)
c.440C>T (p.Pro147Leu)
n.31C>T
 ClinVar dbSNP
11g.71441317G>CCA381694472DHCR7c.536C>G (p.Pro179Arg)
c.362C>G (p.Pro121Arg)
c.572C>G (p.Pro191Arg)
n.813C>G
c.-50C>G (n.-50C>G)
c.440C>G (p.Pro147Arg)
n.31C>G
11g.71441317G=CA1981489723DHCR7c.536C= (p.Pro179=)
c.362C= (p.Pro121=)
c.572C= (p.Pro191=)
n.813C=
c.-50C= (n.-50C=)
c.440C= (p.Pro147=)
n.31C=
11g.71441317G>TCA381694473DHCR7c.536C>A (p.Pro179Gln)
c.362C>A (p.Pro121Gln)
c.572C>A (p.Pro191Gln)
n.813C>A
c.-50C>A (n.-50C>A)
c.440C>A (p.Pro147Gln)
n.31C>A
11g.71441318G>ACA381694476DHCR7c.535C>T (p.Pro179Ser)
c.361C>T (p.Pro121Ser)
c.571C>T (p.Pro191Ser)
n.812C>T
c.-51C>T (n.-51C>T)
c.439C>T (p.Pro147Ser)
n.30C>T
11g.71441318G>CCA381694475DHCR7c.535C>G (p.Pro179Ala)
c.361C>G (p.Pro121Ala)
c.571C>G (p.Pro191Ala)
n.812C>G
c.-51C>G (n.-51C>G)
c.439C>G (p.Pro147Ala)
n.30C>G
11g.71441318G>TCA381694474DHCR7c.535C>A (p.Pro179Thr)
c.361C>A (p.Pro121Thr)
c.571C>A (p.Pro191Thr)
n.812C>A
c.-51C>A (n.-51C>A)
c.439C>A (p.Pro147Thr)
n.30C>A
11g.71441319G>ACA475518312DHCR7c.534C>T (p.Ile178=)
c.360C>T (p.Ile120=)
c.570C>T (p.Ile190=)
n.811C>T
c.-52C>T (n.-52C>T)
c.438C>T (p.Ile146=)
n.29C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.71441319G>CCA381694477DHCR7c.534C>G (p.Ile178Met)
c.360C>G (p.Ile120Met)
c.570C>G (p.Ile190Met)
n.811C>G
c.-52C>G (n.-52C>G)
c.438C>G (p.Ile146Met)
n.29C>G
 ClinVar gnomAD v4
11g.71441319G=CA1981489724DHCR7c.534C= (p.Ile178=)
c.360C= (p.Ile120=)
c.570C= (p.Ile190=)
n.811C=
c.-52C= (n.-52C=)
c.438C= (p.Ile146=)
n.29C=
11g.71441319G>TCA475518313DHCR7c.534C>A (p.Ile178=)
c.360C>A (p.Ile120=)
c.570C>A (p.Ile190=)
n.811C>A
c.-52C>A (n.-52C>A)
c.438C>A (p.Ile146=)
n.29C>A
11g.71441320A>CCA381694478DHCR7c.533T>G (p.Ile178Ser)
c.359T>G (p.Ile120Ser)
c.569T>G (p.Ile190Ser)
n.810T>G
c.-53T>G (n.-53T>G)
c.437T>G (p.Ile146Ser)
n.28T>G
11g.71441320A>GCA381694479DHCR7c.533T>C (p.Ile178Thr)
c.359T>C (p.Ile120Thr)
c.569T>C (p.Ile190Thr)
n.810T>C
c.-53T>C (n.-53T>C)
c.437T>C (p.Ile146Thr)
n.28T>C
11g.71441320A>TCA381694480DHCR7c.533T>A (p.Ile178Asn)
c.359T>A (p.Ile120Asn)
c.569T>A (p.Ile190Asn)
n.810T>A
c.-53T>A (n.-53T>A)
c.437T>A (p.Ile146Asn)
n.28T>A
 ClinVar
11g.71441321T>ACA381694481DHCR7c.532A>T (p.Ile178Phe)
c.358A>T (p.Ile120Phe)
c.568A>T (p.Ile190Phe)
n.809A>T
c.-54A>T (n.-54A>T)
c.436A>T (p.Ile146Phe)
n.27A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71441321T>CCA381694482DHCR7c.532A>G (p.Ile178Val)
c.358A>G (p.Ile120Val)
c.568A>G (p.Ile190Val)
n.809A>G
c.-54A>G (n.-54A>G)
c.436A>G (p.Ile146Val)
n.27A>G
11g.71441321T>GCA381694483DHCR7c.532A>C (p.Ile178Leu)
c.358A>C (p.Ile120Leu)
c.568A>C (p.Ile190Leu)
n.809A>C
c.-54A>C (n.-54A>C)
c.436A>C (p.Ile146Leu)
n.27A>C
11g.71441321T=CA1981489725DHCR7c.532A= (p.Ile178=)
c.358A= (p.Ile120=)
c.568A= (p.Ile190=)
n.809A=
c.-54A= (n.-54A=)
c.436A= (p.Ile146=)
n.27A=
11g.71441322C>ACA381694484DHCR7c.531G>T (p.Trp177Cys)
c.357G>T (p.Trp119Cys)
c.567G>T (p.Trp189Cys)
n.808G>T
c.-55G>T (n.-55G>T)
c.435G>T (p.Trp145Cys)
n.26G>T
 dbSNP
11g.71441322C>GCA381694485DHCR7c.531G>C (p.Trp177Cys)
c.357G>C (p.Trp119Cys)
c.567G>C (p.Trp189Cys)
n.808G>C
c.-55G>C (n.-55G>C)
c.435G>C (p.Trp145Cys)
n.26G>C
11g.71441322C>TCA381694486DHCR7c.531G>A (p.Trp177Ter)
c.357G>A (p.Trp119Ter)
c.567G>A (p.Trp189Ter)
n.808G>A
c.-55G>A (n.-55G>A)
c.435G>A (p.Trp145Ter)
n.26G>A
11g.71441323C>ACA381694487DHCR7c.530G>T (p.Trp177Leu)
c.356G>T (p.Trp119Leu)
c.566G>T (p.Trp189Leu)
n.807G>T
c.-56G>T (n.-56G>T)
c.434G>T (p.Trp145Leu)
n.25G>T
11g.71441323C>GCA381694488DHCR7c.530G>C (p.Trp177Ser)
c.356G>C (p.Trp119Ser)
c.566G>C (p.Trp189Ser)
n.807G>C
c.-56G>C (n.-56G>C)
c.434G>C (p.Trp145Ser)
n.25G>C
11g.71441323C>TCA381694489DHCR7c.530G>A (p.Trp177Ter)
c.356G>A (p.Trp119Ter)
c.566G>A (p.Trp189Ter)
n.807G>A
c.-56G>A (n.-56G>A)
c.434G>A (p.Trp145Ter)
n.25G>A
 gnomAD v4
11g.71441324A>CCA381694491DHCR7c.529T>G (p.Trp177Gly)
c.355T>G (p.Trp119Gly)
c.565T>G (p.Trp189Gly)
n.806T>G
c.-57T>G (n.-57T>G)
c.433T>G (p.Trp145Gly)
n.24T>G
11g.71441324A>GCA381694492DHCR7c.529T>C (p.Trp177Arg)
c.355T>C (p.Trp119Arg)
c.565T>C (p.Trp189Arg)
n.806T>C
c.-57T>C (n.-57T>C)
c.433T>C (p.Trp145Arg)
n.24T>C
11g.71441324A>TCA381694490DHCR7c.529T>A (p.Trp177Arg)
c.355T>A (p.Trp119Arg)
c.565T>A (p.Trp189Arg)
n.806T>A
c.-57T>A (n.-57T>A)
c.433T>A (p.Trp145Arg)
n.24T>A
11g.71441325G>ACA475518314DHCR7c.528C>T (p.Asn176=)
c.354C>T (p.Asn118=)
c.564C>T (p.Asn188=)
n.805C>T
c.-58C>T (n.-58C>T)
c.432C>T (p.Asn144=)
n.23C>T
11g.71441325G>CCA381694493DHCR7c.528C>G (p.Asn176Lys)
c.354C>G (p.Asn118Lys)
c.564C>G (p.Asn188Lys)
n.805C>G
c.-58C>G (n.-58C>G)
c.432C>G (p.Asn144Lys)
n.23C>G
11g.71441325G>TCA381694494DHCR7c.528C>A (p.Asn176Lys)
c.354C>A (p.Asn118Lys)
c.564C>A (p.Asn188Lys)
n.805C>A
c.-58C>A (n.-58C>A)
c.432C>A (p.Asn144Lys)
n.23C>A
11g.71441326T>ACA381694495DHCR7c.527A>T (p.Asn176Ile)
c.353A>T (p.Asn118Ile)
c.563A>T (p.Asn188Ile)
n.804A>T
c.-59A>T (n.-59A>T)
c.431A>T (p.Asn144Ile)
n.22A>T
 gnomAD v4
11g.71441326T>CCA381694496DHCR7c.527A>G (p.Asn176Ser)
c.353A>G (p.Asn118Ser)
c.563A>G (p.Asn188Ser)
n.804A>G
c.-59A>G (n.-59A>G)
c.431A>G (p.Asn144Ser)
n.22A>G
11g.71441326T>GCA381694497DHCR7c.527A>C (p.Asn176Thr)
c.353A>C (p.Asn118Thr)
c.563A>C (p.Asn188Thr)
n.804A>C
c.-59A>C (n.-59A>C)
c.431A>C (p.Asn144Thr)
n.22A>C
11g.71441327T>ACA381694498DHCR7c.526A>T (p.Asn176Tyr)
c.352A>T (p.Asn118Tyr)
c.562A>T (p.Asn188Tyr)
n.803A>T
c.-60A>T (n.-60A>T)
c.430A>T (p.Asn144Tyr)
n.21A>T
11g.71441327T>CCA381694499DHCR7c.526A>G (p.Asn176Asp)
c.352A>G (p.Asn118Asp)
c.562A>G (p.Asn188Asp)
n.803A>G
c.-60A>G (n.-60A>G)
c.430A>G (p.Asn144Asp)
n.21A>G
11g.71441327T>GCA381694500DHCR7c.526A>C (p.Asn176His)
c.352A>C (p.Asn118His)
c.562A>C (p.Asn188His)
n.803A>C
c.-60A>C (n.-60A>C)
c.430A>C (p.Asn144His)
n.21A>C
11g.71441328G>ACA475518315DHCR7c.525C>T (p.Asp175=)
c.351C>T (p.Asp117=)
c.561C>T (p.Asp187=)
n.802C>T
c.-61C>T (n.-61C>T)
c.429C>T (p.Asp143=)
n.20C>T
11g.71441328G>CCA381694501DHCR7c.525C>G (p.Asp175Glu)
c.351C>G (p.Asp117Glu)
c.561C>G (p.Asp187Glu)
n.802C>G
c.-61C>G (n.-61C>G)
c.429C>G (p.Asp143Glu)
n.20C>G
11g.71441328G>TCA381694502DHCR7c.525C>A (p.Asp175Glu)
c.351C>A (p.Asp117Glu)
c.561C>A (p.Asp187Glu)
n.802C>A
c.-61C>A (n.-61C>A)
c.429C>A (p.Asp143Glu)
n.20C>A
11g.71441329T>ACA381694503DHCR7c.524A>T (p.Asp175Val)
c.350A>T (p.Asp117Val)
c.560A>T (p.Asp187Val)
n.801A>T
c.-62A>T (n.-62A>T)
c.428A>T (p.Asp143Val)
n.19A>T
11g.71441329T>CCA381694504DHCR7c.524A>G (p.Asp175Gly)
c.350A>G (p.Asp117Gly)
c.560A>G (p.Asp187Gly)
n.801A>G
c.-62A>G (n.-62A>G)
c.428A>G (p.Asp143Gly)
n.19A>G
11g.71441329T>GCA381694505DHCR7c.524A>C (p.Asp175Ala)
c.350A>C (p.Asp117Ala)
c.560A>C (p.Asp187Ala)
n.801A>C
c.-62A>C (n.-62A>C)
c.428A>C (p.Asp143Ala)
n.19A>C
11g.71441330C>ACA381694506DHCR7c.523G>T (p.Asp175Tyr)
c.349G>T (p.Asp117Tyr)
c.559G>T (p.Asp187Tyr)
n.800G>T
c.-63G>T (n.-63G>T)
c.427G>T (p.Asp143Tyr)
n.18G>T
 COSMIC COSMIC
11g.71441330C=CA1981489726DHCR7c.523G= (p.Asp175=)
c.349G= (p.Asp117=)
c.559G= (p.Asp187=)
n.800G=
c.-63G= (n.-63G=)
c.427G= (p.Asp143=)
n.18G=
11g.71441330C>GCA381694507DHCR7c.523G>C (p.Asp175His)
c.349G>C (p.Asp117His)
c.559G>C (p.Asp187His)
n.800G>C
c.-63G>C (n.-63G>C)
c.427G>C (p.Asp143His)
n.18G>C
11g.71441330C>TCA6162541DHCR7c.523G>A (p.Asp175Asn)
c.349G>A (p.Asp117Asn)
c.559G>A (p.Asp187Asn)
n.800G>A
c.-63G>A (n.-63G>A)
c.427G>A (p.Asp143Asn)
n.18G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441331G>ACA233881DHCR7c.522C>T (p.Phe174=)
c.348C>T (p.Phe116=)
c.558C>T (p.Phe186=)
n.799C>T
c.-64C>T (n.-64C>T)
c.426C>T (p.Phe142=)
n.17C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71441331G>CCA381694508DHCR7c.522C>G (p.Phe174Leu)
c.348C>G (p.Phe116Leu)
c.558C>G (p.Phe186Leu)
n.799C>G
c.-64C>G (n.-64C>G)
c.426C>G (p.Phe142Leu)
n.17C>G
11g.71441331G=CA1981489727DHCR7c.522C= (p.Phe174=)
c.348C= (p.Phe116=)
c.558C= (p.Phe186=)
n.799C=
c.-64C= (n.-64C=)
c.426C= (p.Phe142=)
n.17C=
11g.71441331G>TCA381694509DHCR7c.522C>A (p.Phe174Leu)
c.348C>A (p.Phe116Leu)
c.558C>A (p.Phe186Leu)
n.799C>A
c.-64C>A (n.-64C>A)
c.426C>A (p.Phe142Leu)
n.17C>A
11g.71441332A=CA1981489728DHCR7c.521T= (p.Phe174=)
c.347T= (p.Phe116=)
c.557T= (p.Phe186=)
n.798T=
c.-65T= (n.-65T=)
c.425T= (p.Phe142=)
n.16T=
11g.71441332A>CCA381694510DHCR7c.521T>G (p.Phe174Cys)
c.347T>G (p.Phe116Cys)
c.557T>G (p.Phe186Cys)
n.798T>G
c.-65T>G (n.-65T>G)
c.425T>G (p.Phe142Cys)
n.16T>G
11g.71441332A>GCA6162542DHCR7c.521T>C (p.Phe174Ser)
c.347T>C (p.Phe116Ser)
c.557T>C (p.Phe186Ser)
n.798T>C
c.-65T>C (n.-65T>C)
c.425T>C (p.Phe142Ser)
n.16T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441332A>TCA381694511DHCR7c.521T>A (p.Phe174Tyr)
c.347T>A (p.Phe116Tyr)
c.557T>A (p.Phe186Tyr)
n.798T>A
c.-65T>A (n.-65T>A)
c.425T>A (p.Phe142Tyr)
n.16T>A
11g.71441333A=CA1981489729DHCR7c.520T= (p.Phe174=)
c.346T= (p.Phe116=)
c.556T= (p.Phe186=)
n.797T=
c.-66T= (n.-66T=)
c.424T= (p.Phe142=)
n.15T=
11g.71441333A>CCA10607075DHCR7c.520T>G (p.Phe174Val)
c.346T>G (p.Phe116Val)
c.556T>G (p.Phe186Val)
n.797T>G
c.-66T>G (n.-66T>G)
c.424T>G (p.Phe142Val)
n.15T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441333A>GCA381694512DHCR7c.520T>C (p.Phe174Leu)
c.346T>C (p.Phe116Leu)
c.556T>C (p.Phe186Leu)
n.797T>C
c.-66T>C (n.-66T>C)
c.424T>C (p.Phe142Leu)
n.15T>C
11g.71441333A>TCA381694513DHCR7c.520T>A (p.Phe174Ile)
c.346T>A (p.Phe116Ile)
c.556T>A (p.Phe186Ile)
n.797T>A
c.-66T>A (n.-66T>A)
c.424T>A (p.Phe142Ile)
n.15T>A
11g.71441334G>ACA475518316DHCR7c.519C>T (p.Ile173=)
c.345C>T (p.Ile115=)
c.555C>T (p.Ile185=)
n.796C>T
c.-67C>T (n.-67C>T)
c.423C>T (p.Ile141=)
n.14C>T
11g.71441334G>CCA381694514DHCR7c.519C>G (p.Ile173Met)
c.345C>G (p.Ile115Met)
c.555C>G (p.Ile185Met)
n.796C>G
c.-67C>G (n.-67C>G)
c.423C>G (p.Ile141Met)
n.14C>G
11g.71441334G>TCA475518317DHCR7c.519C>A (p.Ile173=)
c.345C>A (p.Ile115=)
c.555C>A (p.Ile185=)
n.796C>A
c.-67C>A (n.-67C>A)
c.423C>A (p.Ile141=)
n.14C>A
11g.71441335A>CCA381694516DHCR7c.518T>G (p.Ile173Ser)
c.344T>G (p.Ile115Ser)
c.554T>G (p.Ile185Ser)
n.795T>G
c.-68T>G (n.-68T>G)
c.422T>G (p.Ile141Ser)
n.13T>G
11g.71441335A>GCA381694517DHCR7c.518T>C (p.Ile173Thr)
c.344T>C (p.Ile115Thr)
c.554T>C (p.Ile185Thr)
n.795T>C
c.-68T>C (n.-68T>C)
c.422T>C (p.Ile141Thr)
n.13T>C
11g.71441335A>TCA381694515DHCR7c.518T>A (p.Ile173Asn)
c.344T>A (p.Ile115Asn)
c.554T>A (p.Ile185Asn)
n.795T>A
c.-68T>A (n.-68T>A)
c.422T>A (p.Ile141Asn)
n.13T>A
11g.71441336T>ACA6162543DHCR7c.517A>T (p.Ile173Phe)
c.343A>T (p.Ile115Phe)
c.553A>T (p.Ile185Phe)
n.794A>T
c.-69A>T (n.-69A>T)
c.421A>T (p.Ile141Phe)
n.12A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441336T>CCA381694518DHCR7c.517A>G (p.Ile173Val)
c.343A>G (p.Ile115Val)
c.553A>G (p.Ile185Val)
n.794A>G
c.-69A>G (n.-69A>G)
c.421A>G (p.Ile141Val)
n.12A>G
 gnomAD v4
11g.71441336T>GCA381694519DHCR7c.517A>C (p.Ile173Leu)
c.343A>C (p.Ile115Leu)
c.553A>C (p.Ile185Leu)
n.794A>C
c.-69A>C (n.-69A>C)
c.421A>C (p.Ile141Leu)
n.12A>C
11g.71441336T=CA1981489730DHCR7c.517A= (p.Ile173=)
c.343A= (p.Ile115=)
c.553A= (p.Ile185=)
n.794A=
c.-69A= (n.-69A=)
c.421A= (p.Ile141=)
n.12A=
11g.71441337G>ACA475518318DHCR7c.516C>T (p.Ile172=)
c.342C>T (p.Ile114=)
c.552C>T (p.Ile184=)
n.793C>T
c.-70C>T (n.-70C>T)
c.420C>T (p.Ile140=)
n.11C>T
 gnomAD v4
11g.71441337G>CCA381694520DHCR7c.516C>G (p.Ile172Met)
c.342C>G (p.Ile114Met)
c.552C>G (p.Ile184Met)
n.793C>G
c.-70C>G (n.-70C>G)
c.420C>G (p.Ile140Met)
n.11C>G
11g.71441337G>TCA475518319DHCR7c.516C>A (p.Ile172=)
c.342C>A (p.Ile114=)
c.552C>A (p.Ile184=)
n.793C>A
c.-70C>A (n.-70C>A)
c.420C>A (p.Ile140=)
n.11C>A
11g.71441338A>CCA381694521DHCR7c.515T>G (p.Ile172Ser)
c.341T>G (p.Ile114Ser)
c.551T>G (p.Ile184Ser)
n.792T>G
c.-71T>G (n.-71T>G)
c.419T>G (p.Ile140Ser)
n.10T>G
11g.71441338A>GCA381694522DHCR7c.515T>C (p.Ile172Thr)
c.341T>C (p.Ile114Thr)
c.551T>C (p.Ile184Thr)
n.792T>C
c.-71T>C (n.-71T>C)
c.419T>C (p.Ile140Thr)
n.10T>C
11g.71441338A>TCA381694523DHCR7c.515T>A (p.Ile172Asn)
c.341T>A (p.Ile114Asn)
c.551T>A (p.Ile184Asn)
n.792T>A
c.-71T>A (n.-71T>A)
c.419T>A (p.Ile140Asn)
n.10T>A
11g.71441339T>ACA381694524DHCR7c.514A>T (p.Ile172Phe)
c.340A>T (p.Ile114Phe)
c.550A>T (p.Ile184Phe)
n.791A>T
c.-72A>T (n.-72A>T)
c.418A>T (p.Ile140Phe)
n.9A>T
11g.71441339T>CCA6162544DHCR7c.514A>G (p.Ile172Val)
c.340A>G (p.Ile114Val)
c.550A>G (p.Ile184Val)
n.791A>G
c.-72A>G (n.-72A>G)
c.418A>G (p.Ile140Val)
n.9A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441339T>GCA381694525DHCR7c.514A>C (p.Ile172Leu)
c.340A>C (p.Ile114Leu)
c.550A>C (p.Ile184Leu)
n.791A>C
c.-72A>C (n.-72A>C)
c.418A>C (p.Ile140Leu)
n.9A>C
11g.71441339T=CA1981489731DHCR7c.514A= (p.Ile172=)
c.340A= (p.Ile114=)
c.550A= (p.Ile184=)
n.791A=
c.-72A= (n.-72A=)
c.418A= (p.Ile140=)
n.9A=
11g.71441340G>ACA6162545DHCR7c.513C>T (p.Thr171=)
c.339C>T (p.Thr113=)
c.549C>T (p.Thr183=)
n.790C>T
c.-73C>T (n.-73C>T)
c.417C>T (p.Thr139=)
n.8C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441340G>CCA475518320DHCR7c.513C>G (p.Thr171=)
c.339C>G (p.Thr113=)
c.549C>G (p.Thr183=)
n.790C>G
c.-73C>G (n.-73C>G)
c.417C>G (p.Thr139=)
n.8C>G
11g.71441340G=CA1981489732DHCR7c.513C= (p.Thr171=)
c.339C= (p.Thr113=)
c.549C= (p.Thr183=)
n.790C=
c.-73C= (n.-73C=)
c.417C= (p.Thr139=)
n.8C=
11g.71441340G>TCA475518321DHCR7c.513C>A (p.Thr171=)
c.339C>A (p.Thr113=)
c.549C>A (p.Thr183=)
n.790C>A
c.-73C>A (n.-73C>A)
c.417C>A (p.Thr139=)
n.8C>A
11g.71441341G>ACA381694526DHCR7c.512C>T (p.Thr171Ile)
c.338C>T (p.Thr113Ile)
c.548C>T (p.Thr183Ile)
n.789C>T
c.-74C>T (n.-74C>T)
c.416C>T (p.Thr139Ile)
n.7C>T
 gnomAD v4
11g.71441341G>CCA381694527DHCR7c.512C>G (p.Thr171Ser)
c.338C>G (p.Thr113Ser)
c.548C>G (p.Thr183Ser)
n.789C>G
c.-74C>G (n.-74C>G)
c.416C>G (p.Thr139Ser)
n.7C>G
11g.71441341G>TCA381694528DHCR7c.512C>A (p.Thr171Asn)
c.338C>A (p.Thr113Asn)
c.548C>A (p.Thr183Asn)
n.789C>A
c.-74C>A (n.-74C>A)
c.416C>A (p.Thr139Asn)
n.7C>A
11g.71441342T>ACA381694531DHCR7c.511A>T (p.Thr171Ser)
c.337A>T (p.Thr113Ser)
c.547A>T (p.Thr183Ser)
n.788A>T
c.-75A>T (n.-75A>T)
c.415A>T (p.Thr139Ser)
n.6A>T
11g.71441342T>CCA381694529DHCR7c.511A>G (p.Thr171Ala)
c.337A>G (p.Thr113Ala)
c.547A>G (p.Thr183Ala)
n.788A>G
c.-75A>G (n.-75A>G)
c.415A>G (p.Thr139Ala)
n.6A>G
11g.71441342T>GCA381694530DHCR7c.511A>C (p.Thr171Pro)
c.337A>C (p.Thr113Pro)
c.547A>C (p.Thr183Pro)
n.788A>C
c.-75A>C (n.-75A>C)
c.415A>C (p.Thr139Pro)
n.6A>C
11g.71441343G>ACA475518322DHCR7c.510C>T (p.Pro170=)
c.336C>T (p.Pro112=)
c.546C>T (p.Pro182=)
n.787C>T
c.-76C>T (n.-76C>T)
c.414C>T (p.Pro138=)
n.5C>T
11g.71441343G>CCA475518324DHCR7c.510C>G (p.Pro170=)
c.336C>G (p.Pro112=)
c.546C>G (p.Pro182=)
n.787C>G
c.-76C>G (n.-76C>G)
c.414C>G (p.Pro138=)
n.5C>G
11g.71441343G>TCA475518323DHCR7c.510C>A (p.Pro170=)
c.336C>A (p.Pro112=)
c.546C>A (p.Pro182=)
n.787C>A
c.-76C>A (n.-76C>A)
c.414C>A (p.Pro138=)
n.5C>A
11g.71441344G>ACA224279823DHCR7c.509C>T (p.Pro170Leu)
c.335C>T (p.Pro112Leu)
c.545C>T (p.Pro182Leu)
n.786C>T
c.-77C>T (n.-77C>T)
c.413C>T (p.Pro138Leu)
n.4C>T
 dbSNP gnomAD v4
11g.71441344G>CCA224279831DHCR7c.509C>G (p.Pro170Arg)
c.335C>G (p.Pro112Arg)
c.545C>G (p.Pro182Arg)
n.786C>G
c.-77C>G (n.-77C>G)
c.413C>G (p.Pro138Arg)
n.4C>G
 dbSNP
11g.71441344G=CA1981489733DHCR7c.509C= (p.Pro170=)
c.335C= (p.Pro112=)
c.545C= (p.Pro182=)
n.786C=
c.-77C= (n.-77C=)
c.413C= (p.Pro138=)
n.4C=
11g.71441344G>TCA381694532DHCR7c.509C>A (p.Pro170His)
c.335C>A (p.Pro112His)
c.545C>A (p.Pro182His)
n.786C>A
c.-77C>A (n.-77C>A)
c.413C>A (p.Pro138His)
n.4C>A
11g.71441345G>ACA381694533DHCR7c.508C>T (p.Pro170Ser)
c.334C>T (p.Pro112Ser)
c.544C>T (p.Pro182Ser)
n.785C>T
c.-78C>T (n.-78C>T)
c.412C>T (p.Pro138Ser)
n.3C>T
11g.71441345G>CCA381694534DHCR7c.508C>G (p.Pro170Ala)
c.334C>G (p.Pro112Ala)
c.544C>G (p.Pro182Ala)
n.785C>G
c.-78C>G (n.-78C>G)
c.412C>G (p.Pro138Ala)
n.3C>G
11g.71441345G>TCA381694535DHCR7c.508C>A (p.Pro170Thr)
c.334C>A (p.Pro112Thr)
c.544C>A (p.Pro182Thr)
n.785C>A
c.-78C>A (n.-78C>A)
c.412C>A (p.Pro138Thr)
n.3C>A
11g.71441346C>ACA475518325DHCR7c.507G>T (p.Ser169=)
c.333G>T (p.Ser111=)
c.543G>T (p.Ser181=)
n.784G>T
c.-79G>T (n.-79G>T)
c.411G>T (p.Ser137=)
n.2G>T
 ClinVar
11g.71441346C=CA1981489734DHCR7c.507G= (p.Ser169=)
c.333G= (p.Ser111=)
c.543G= (p.Ser181=)
n.784G=
c.-79G= (n.-79G=)
c.411G= (p.Ser137=)
n.2G=
11g.71441346C>GCA475518326DHCR7c.507G>C (p.Ser169=)
c.333G>C (p.Ser111=)
c.543G>C (p.Ser181=)
n.784G>C
c.-79G>C (n.-79G>C)
c.411G>C (p.Ser137=)
n.2G>C
11g.71441346C>TCA6162546DHCR7c.507G>A (p.Ser169=)
c.333G>A (p.Ser111=)
c.543G>A (p.Ser181=)
n.784G>A
c.-79G>A (n.-79G>A)
c.411G>A (p.Ser137=)
n.2G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441347G>ACA341824DHCR7c.506C>T (p.Ser169Leu)
c.332C>T (p.Ser111Leu)
c.542C>T (p.Ser181Leu)
n.783C>T
c.-80C>T (n.-80C>T)
c.410C>T (p.Ser137Leu)
n.1C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441347G>CCA6162547DHCR7c.506C>G (p.Ser169Trp)
c.332C>G (p.Ser111Trp)
c.542C>G (p.Ser181Trp)
n.783C>G
c.-80C>G (n.-80C>G)
c.410C>G (p.Ser137Trp)
n.1C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441347G=CA1981489735DHCR7c.506C= (p.Ser169=)
c.332C= (p.Ser111=)
c.542C= (p.Ser181=)
n.783C=
c.-80C= (n.-80C=)
c.410C= (p.Ser137=)
n.1C=
11g.71441347G>TCA381694536DHCR7c.506C>A (p.Ser169Ter)
c.332C>A (p.Ser111Ter)
c.542C>A (p.Ser181Ter)
n.783C>A
c.-80C>A (n.-80C>A)
c.410C>A (p.Ser137Ter)
n.1C>A
11g.71441348A>CCA381694537DHCR7c.505T>G (p.Ser169Ala)
c.331T>G (p.Ser111Ala)
c.541T>G (p.Ser181Ala)
n.782T>G
c.-81T>G (n.-81T>G)
c.409T>G (p.Ser137Ala)
11g.71441348A>GCA381694538DHCR7c.505T>C (p.Ser169Pro)
c.331T>C (p.Ser111Pro)
c.541T>C (p.Ser181Pro)
n.782T>C
c.-81T>C (n.-81T>C)
c.409T>C (p.Ser137Pro)
11g.71441348A>TCA381694539DHCR7c.505T>A (p.Ser169Thr)
c.331T>A (p.Ser111Thr)
c.541T>A (p.Ser181Thr)
n.782T>A
c.-81T>A (n.-81T>A)
c.409T>A (p.Ser137Thr)
11g.71441350_71441355delCA2614860649DHCR7c.500_505del (p.Trp167_Phe168del)
c.326_331del (p.Trp109_Phe110del)
c.536_541del (p.Trp179_Phe180del)
n.777_782del
c.-86_-81del (n.-86_-81del)
c.404_409del (p.Trp135_Phe136del)
 gnomAD v4
11g.71441349G>ACA475518327DHCR7c.504C>T (p.Phe168=)
c.330C>T (p.Phe110=)
c.540C>T (p.Phe180=)
n.781C>T
c.-82C>T (n.-82C>T)
c.408C>T (p.Phe136=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71441349G>CCA381694540DHCR7c.504C>G (p.Phe168Leu)
c.330C>G (p.Phe110Leu)
c.540C>G (p.Phe180Leu)
n.781C>G
c.-82C>G (n.-82C>G)
c.408C>G (p.Phe136Leu)
 gnomAD v4
11g.71441349G=CA1981489736DHCR7c.504C= (p.Phe168=)
c.330C= (p.Phe110=)
c.540C= (p.Phe180=)
n.781C=
c.-82C= (n.-82C=)
c.408C= (p.Phe136=)
11g.71441349G>TCA381694541DHCR7c.504C>A (p.Phe168Leu)
c.330C>A (p.Phe110Leu)
c.540C>A (p.Phe180Leu)
n.781C>A
c.-82C>A (n.-82C>A)
c.408C>A (p.Phe136Leu)
11g.71441350A>CCA381694542DHCR7c.503T>G (p.Phe168Cys)
c.329T>G (p.Phe110Cys)
c.539T>G (p.Phe180Cys)
n.780T>G
c.-83T>G (n.-83T>G)
c.407T>G (p.Phe136Cys)
11g.71441350A>GCA381694543DHCR7c.503T>C (p.Phe168Ser)
c.329T>C (p.Phe110Ser)
c.539T>C (p.Phe180Ser)
n.780T>C
c.-83T>C (n.-83T>C)
c.407T>C (p.Phe136Ser)
11g.71441350A>TCA381694544DHCR7c.503T>A (p.Phe168Tyr)
c.329T>A (p.Phe110Tyr)
c.539T>A (p.Phe180Tyr)
n.780T>A
c.-83T>A (n.-83T>A)
c.407T>A (p.Phe136Tyr)
11g.71441351A>CCA381694545DHCR7c.502T>G (p.Phe168Val)
c.328T>G (p.Phe110Val)
c.538T>G (p.Phe180Val)
n.779T>G
c.-84T>G (n.-84T>G)
c.406T>G (p.Phe136Val)
11g.71441351A>GCA381694546DHCR7c.502T>C (p.Phe168Leu)
c.328T>C (p.Phe110Leu)
c.538T>C (p.Phe180Leu)
n.779T>C
c.-84T>C (n.-84T>C)
c.406T>C (p.Phe136Leu)
11g.71441351A>TCA381694547DHCR7c.502T>A (p.Phe168Ile)
c.328T>A (p.Phe110Ile)
c.538T>A (p.Phe180Ile)
n.779T>A
c.-84T>A (n.-84T>A)
c.406T>A (p.Phe136Ile)
11g.71441352C>ACA381694548DHCR7c.501G>T (p.Trp167Cys)
c.327G>T (p.Trp109Cys)
c.537G>T (p.Trp179Cys)
n.778G>T
c.-85G>T (n.-85G>T)
c.405G>T (p.Trp135Cys)
 dbSNP gnomAD v3 gnomAD v4
11g.71441352C=CA1981489737DHCR7c.501G= (p.Trp167=)
c.327G= (p.Trp109=)
c.537G= (p.Trp179=)
n.778G=
c.-85G= (n.-85G=)
c.405G= (p.Trp135=)
11g.71441352C>GCA381694549DHCR7c.501G>C (p.Trp167Cys)
c.327G>C (p.Trp109Cys)
c.537G>C (p.Trp179Cys)
n.778G>C
c.-85G>C (n.-85G>C)
c.405G>C (p.Trp135Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441352C>TCA381694550DHCR7c.501G>A (p.Trp167Ter)
c.327G>A (p.Trp109Ter)
c.537G>A (p.Trp179Ter)
n.778G>A
c.-85G>A (n.-85G>A)
c.405G>A (p.Trp135Ter)
 ClinVar dbSNP
11g.71441353C>ACA381694551DHCR7c.500G>T (p.Trp167Leu)
c.326G>T (p.Trp109Leu)
c.536G>T (p.Trp179Leu)
n.777G>T
c.-86G>T (n.-86G>T)
c.404G>T (p.Trp135Leu)
11g.71441353C=CA1981489738DHCR7c.500G= (p.Trp167=)
c.326G= (p.Trp109=)
c.536G= (p.Trp179=)
n.777G=
c.-86G= (n.-86G=)
c.404G= (p.Trp135=)
11g.71441353C>GCA6162548DHCR7c.500G>C (p.Trp167Ser)
c.326G>C (p.Trp109Ser)
c.536G>C (p.Trp179Ser)
n.777G>C
c.-86G>C (n.-86G>C)
c.404G>C (p.Trp135Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441353C>TCA381694552DHCR7c.500G>A (p.Trp167Ter)
c.326G>A (p.Trp109Ter)
c.536G>A (p.Trp179Ter)
n.777G>A
c.-86G>A (n.-86G>A)
c.404G>A (p.Trp135Ter)
11g.71441354A>CCA381694554DHCR7c.499T>G (p.Trp167Gly)
c.325T>G (p.Trp109Gly)
c.535T>G (p.Trp179Gly)
n.776T>G
c.-87T>G (n.-87T>G)
c.403T>G (p.Trp135Gly)
11g.71441354A>GCA381694555DHCR7c.499T>C (p.Trp167Arg)
c.325T>C (p.Trp109Arg)
c.535T>C (p.Trp179Arg)
n.776T>C
c.-87T>C (n.-87T>C)
c.403T>C (p.Trp135Arg)
 gnomAD v4
11g.71441354A>TCA381694553DHCR7c.499T>A (p.Trp167Arg)
c.325T>A (p.Trp109Arg)
c.535T>A (p.Trp179Arg)
n.776T>A
c.-87T>A (n.-87T>A)
c.403T>A (p.Trp135Arg)
11g.71441355G>ACA475518328DHCR7c.498C>T (p.Ser166=)
c.324C>T (p.Ser108=)
c.534C>T (p.Ser178=)
n.775C>T
c.-88C>T (n.-88C>T)
c.402C>T (p.Ser134=)
11g.71441355G>CCA475518330DHCR7c.498C>G (p.Ser166=)
c.324C>G (p.Ser108=)
c.534C>G (p.Ser178=)
n.775C>G
c.-88C>G (n.-88C>G)
c.402C>G (p.Ser134=)
11g.71441355G>TCA475518329DHCR7c.498C>A (p.Ser166=)
c.324C>A (p.Ser108=)
c.534C>A (p.Ser178=)
n.775C>A
c.-88C>A (n.-88C>A)
c.402C>A (p.Ser134=)
11g.71441356G>ACA381694556DHCR7c.497C>T (p.Ser166Phe)
c.323C>T (p.Ser108Phe)
c.533C>T (p.Ser178Phe)
n.774C>T
c.-89C>T (n.-89C>T)
c.401C>T (p.Ser134Phe)
 gnomAD v4
11g.71441356G>CCA381694557DHCR7c.497C>G (p.Ser166Cys)
c.323C>G (p.Ser108Cys)
c.533C>G (p.Ser178Cys)
n.774C>G
c.-89C>G (n.-89C>G)
c.401C>G (p.Ser134Cys)
11g.71441356G>TCA381694558DHCR7c.497C>A (p.Ser166Tyr)
c.323C>A (p.Ser108Tyr)
c.533C>A (p.Ser178Tyr)
n.774C>A
c.-89C>A (n.-89C>A)
c.401C>A (p.Ser134Tyr)
11g.71441357A>CCA381694559DHCR7c.496T>G (p.Ser166Ala)
c.322T>G (p.Ser108Ala)
c.532T>G (p.Ser178Ala)
n.773T>G
c.-90T>G (n.-90T>G)
c.400T>G (p.Ser134Ala)
 ClinVar
11g.71441357A>GCA381694560DHCR7c.496T>C (p.Ser166Pro)
c.322T>C (p.Ser108Pro)
c.532T>C (p.Ser178Pro)
n.773T>C
c.-90T>C (n.-90T>C)
c.400T>C (p.Ser134Pro)
11g.71441357A>TCA381694561DHCR7c.496T>A (p.Ser166Thr)
c.322T>A (p.Ser108Thr)
c.532T>A (p.Ser178Thr)
n.773T>A
c.-90T>A (n.-90T>A)
c.400T>A (p.Ser134Thr)
11g.71441358_71441359delCA2580084857DHCR7c.495_496del (p.Ser166LeufsTer?)
c.321_322del (p.Ser108LeufsTer?)
c.531_532del (p.Ser178LeufsTer?)
n.772_773del
c.-91_-90del (n.-91_-90del)
c.399_400del (p.Ser134LeufsTer?)
 ClinVar
11g.71441358C>ACA475518331DHCR7c.495G>T (p.Leu165=)
c.321G>T (p.Leu107=)
c.531G>T (p.Leu177=)
n.772G>T
c.-91G>T (n.-91G>T)
c.399G>T (p.Leu133=)
11g.71441358C=CA1981489739DHCR7c.495G= (p.Leu165=)
c.321G= (p.Leu107=)
c.531G= (p.Leu177=)
n.772G=
c.-91G= (n.-91G=)
c.399G= (p.Leu133=)
11g.71441358C>GCA475518332DHCR7c.495G>C (p.Leu165=)
c.321G>C (p.Leu107=)
c.531G>C (p.Leu177=)
n.772G>C
c.-91G>C (n.-91G>C)
c.399G>C (p.Leu133=)
11g.71441358C>TCA475518333DHCR7c.495G>A (p.Leu165=)
c.321G>A (p.Leu107=)
c.531G>A (p.Leu177=)
n.772G>A
c.-91G>A (n.-91G>A)
c.399G>A (p.Leu133=)
 dbSNP gnomAD v2 gnomAD v4
11g.71441359A>CCA381694562DHCR7c.494T>G (p.Leu165Arg)
c.320T>G (p.Leu107Arg)
c.530T>G (p.Leu177Arg)
n.771T>G
c.-92T>G (n.-92T>G)
c.398T>G (p.Leu133Arg)
11g.71441359A>GCA381694564DHCR7c.494T>C (p.Leu165Pro)
c.320T>C (p.Leu107Pro)
c.530T>C (p.Leu177Pro)
n.771T>C
c.-92T>C (n.-92T>C)
c.398T>C (p.Leu133Pro)
11g.71441359A>TCA381694563DHCR7c.494T>A (p.Leu165Gln)
c.320T>A (p.Leu107Gln)
c.530T>A (p.Leu177Gln)
n.771T>A
c.-92T>A (n.-92T>A)
c.398T>A (p.Leu133Gln)
11g.71441360G>ACA475518334DHCR7c.493C>T (p.Leu165=)
c.319C>T (p.Leu107=)
c.529C>T (p.Leu177=)
n.770C>T
c.-93C>T (n.-93C>T)
c.397C>T (p.Leu133=)
c.493C>T
 gnomAD v4
11g.71441360G>CCA381694565DHCR7c.493C>G (p.Leu165Val)
c.319C>G (p.Leu107Val)
c.529C>G (p.Leu177Val)
n.770C>G
c.-93C>G (n.-93C>G)
c.397C>G (p.Leu133Val)
c.493C>G
11g.71441360G>TCA381694566DHCR7c.493C>A (p.Leu165Met)
c.319C>A (p.Leu107Met)
c.529C>A (p.Leu177Met)
n.770C>A
c.-93C>A (n.-93C>A)
c.397C>A (p.Leu133Met)
c.493C>A
11g.71441361G>ACA224279843DHCR7c.492C>T (p.Leu164=)
c.318C>T (p.Leu106=)
c.528C>T (p.Leu176=)
n.769C>T
c.-94C>T (n.-94C>T)
c.396C>T (p.Leu132=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71441361G>CCA6162549DHCR7c.492C>G (p.Leu164=)
c.318C>G (p.Leu106=)
c.528C>G (p.Leu176=)
n.769C>G
c.-94C>G (n.-94C>G)
c.396C>G (p.Leu132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441361G=CA1981489740DHCR7c.492C= (p.Leu164=)
c.318C= (p.Leu106=)
c.528C= (p.Leu176=)
n.769C=
c.-94C= (n.-94C=)
c.396C= (p.Leu132=)
11g.71441361G>TCA475518335DHCR7c.492C>A (p.Leu164=)
c.318C>A (p.Leu106=)
c.528C>A (p.Leu176=)
n.769C>A
c.-94C>A (n.-94C>A)
c.396C>A (p.Leu132=)
11g.71441362A>CCA381694569DHCR7c.491T>G (p.Leu164Arg)
c.317T>G (p.Leu106Arg)
c.527T>G (p.Leu176Arg)
n.768T>G
c.-95T>G (n.-95T>G)
c.395T>G (p.Leu132Arg)
11g.71441362A>GCA381694568DHCR7c.491T>C (p.Leu164Pro)
c.317T>C (p.Leu106Pro)
c.527T>C (p.Leu176Pro)
n.768T>C
c.-95T>C (n.-95T>C)
c.395T>C (p.Leu132Pro)
11g.71441362A>TCA381694567DHCR7c.491T>A (p.Leu164His)
c.317T>A (p.Leu106His)
c.527T>A (p.Leu176His)
n.768T>A
c.-95T>A (n.-95T>A)
c.395T>A (p.Leu132His)
11g.71441363G>ACA6162550DHCR7c.490C>T (p.Leu164Phe)
c.316C>T (p.Leu106Phe)
c.526C>T (p.Leu176Phe)
n.767C>T
c.-96C>T (n.-96C>T)
c.394C>T (p.Leu132Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441363G>CCA381694571DHCR7c.490C>G (p.Leu164Val)
c.316C>G (p.Leu106Val)
c.526C>G (p.Leu176Val)
n.767C>G
c.-96C>G (n.-96C>G)
c.394C>G (p.Leu132Val)
 dbSNP gnomAD v2 gnomAD v4
11g.71441363G=CA1981489741DHCR7c.490C= (p.Leu164=)
c.316C= (p.Leu106=)
c.526C= (p.Leu176=)
n.767C=
c.-96C= (n.-96C=)
c.394C= (p.Leu132=)
11g.71441363G>TCA381694570DHCR7c.490C>A (p.Leu164Ile)
c.316C>A (p.Leu106Ile)
c.526C>A (p.Leu176Ile)
n.767C>A
c.-96C>A (n.-96C>A)
c.394C>A (p.Leu132Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.71441364A>CCA381694572DHCR7c.489T>G (p.His163Gln)
c.315T>G (p.His105Gln)
c.525T>G (p.His175Gln)
n.766T>G
c.-97T>G (n.-97T>G)
c.393T>G (p.His131Gln)
11g.71441364A>GCA475518336DHCR7c.489T>C (p.His163=)
c.315T>C (p.His105=)
c.525T>C (p.His175=)
n.766T>C
c.-97T>C (n.-97T>C)
c.393T>C (p.His131=)
11g.71441364A>TCA381694573DHCR7c.489T>A (p.His163Gln)
c.315T>A (p.His105Gln)
c.525T>A (p.His175Gln)
n.766T>A
c.-97T>A (n.-97T>A)
c.393T>A (p.His131Gln)
11g.71441365T>ACA381694574DHCR7c.488A>T (p.His163Leu)
c.314A>T (p.His105Leu)
c.524A>T (p.His175Leu)
n.765A>T
c.-98A>T (n.-98A>T)
c.392A>T (p.His131Leu)
11g.71441365T>CCA6162551DHCR7c.488A>G (p.His163Arg)
c.314A>G (p.His105Arg)
c.524A>G (p.His175Arg)
n.765A>G
c.-98A>G (n.-98A>G)
c.392A>G (p.His131Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441365T>GCA381694575DHCR7c.488A>C (p.His163Pro)
c.314A>C (p.His105Pro)
c.524A>C (p.His175Pro)
n.765A>C
c.-98A>C (n.-98A>C)
c.392A>C (p.His131Pro)
11g.71441365T=CA1981489742DHCR7c.488A= (p.His163=)
c.314A= (p.His105=)
c.524A= (p.His175=)
n.765A=
c.-98A= (n.-98A=)
c.392A= (p.His131=)
11g.71441366G>ACA381694576DHCR7c.487C>T (p.His163Tyr)
c.313C>T (p.His105Tyr)
c.523C>T (p.His175Tyr)
n.764C>T
c.-99C>T (n.-99C>T)
c.391C>T (p.His131Tyr)
11g.71441366G>CCA381694577DHCR7c.487C>G (p.His163Asp)
c.313C>G (p.His105Asp)
c.523C>G (p.His175Asp)
n.764C>G
c.-99C>G (n.-99C>G)
c.391C>G (p.His131Asp)
11g.71441366G>TCA381694578DHCR7c.487C>A (p.His163Asn)
c.313C>A (p.His105Asn)
c.523C>A (p.His175Asn)
n.764C>A
c.-99C>A (n.-99C>A)
c.391C>A (p.His131Asn)
11g.71441367A>CCA475518337DHCR7c.486T>G (p.Ala162=)
c.312T>G (p.Ala104=)
c.522T>G (p.Ala174=)
n.763T>G
c.-100T>G (n.-100T>G)
c.390T>G (p.Ala130=)
 ClinVar
11g.71441367A>GCA475518338DHCR7c.486T>C (p.Ala162=)
c.312T>C (p.Ala104=)
c.522T>C (p.Ala174=)
n.763T>C
c.-100T>C (n.-100T>C)
c.390T>C (p.Ala130=)
 ClinVar
11g.71441367A>TCA475518339DHCR7c.486T>A (p.Ala162=)
c.312T>A (p.Ala104=)
c.522T>A (p.Ala174=)
n.763T>A
c.-100T>A (n.-100T>A)
c.390T>A (p.Ala130=)
11g.71441368G>ACA221674DHCR7c.485C>T (p.Ala162Val)
c.311C>T (p.Ala104Val)
c.521C>T (p.Ala174Val)
n.762C>T
c.-101C>T (n.-101C>T)
c.389C>T (p.Ala130Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441368G>CCA381694579DHCR7c.485C>G (p.Ala162Gly)
c.311C>G (p.Ala104Gly)
c.521C>G (p.Ala174Gly)
n.762C>G
c.-101C>G (n.-101C>G)
c.389C>G (p.Ala130Gly)
11g.71441368G=CA1981489743DHCR7c.485C= (p.Ala162=)
c.311C= (p.Ala104=)
c.521C= (p.Ala174=)
n.762C=
c.-101C= (n.-101C=)
c.389C= (p.Ala130=)
11g.71441368G>TCA381694580DHCR7c.485C>A (p.Ala162Asp)
c.311C>A (p.Ala104Asp)
c.521C>A (p.Ala174Asp)
n.762C>A
c.-101C>A (n.-101C>A)
c.389C>A (p.Ala130Asp)
11g.71441369C>ACA381694581DHCR7c.484G>T (p.Ala162Ser)
c.310G>T (p.Ala104Ser)
c.520G>T (p.Ala174Ser)
n.761G>T
c.-102G>T (n.-102G>T)
c.388G>T (p.Ala130Ser)
11g.71441369C=CA1981489744DHCR7c.484G= (p.Ala162=)
c.310G= (p.Ala104=)
c.520G= (p.Ala174=)
n.761G=
c.-102G= (n.-102G=)
c.388G= (p.Ala130=)
11g.71441369C>GCA381694582DHCR7c.484G>C (p.Ala162Pro)
c.310G>C (p.Ala104Pro)
c.520G>C (p.Ala174Pro)
n.761G>C
c.-102G>C (n.-102G>C)
c.388G>C (p.Ala130Pro)
11g.71441369C>TCA6162552DHCR7c.484G>A (p.Ala162Thr)
c.310G>A (p.Ala104Thr)
c.520G>A (p.Ala174Thr)
n.761G>A
c.-102G>A (n.-102G>A)
c.388G>A (p.Ala130Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441370G>ACA6162553DHCR7c.483C>T (p.Asn161=)
c.309C>T (p.Asn103=)
c.519C>T (p.Asn173=)
n.760C>T
c.-103C>T (n.-103C>T)
c.387C>T (p.Asn129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441370G>CCA381694584DHCR7c.483C>G (p.Asn161Lys)
c.309C>G (p.Asn103Lys)
c.519C>G (p.Asn173Lys)
n.760C>G
c.-103C>G (n.-103C>G)
c.387C>G (p.Asn129Lys)
11g.71441370G=CA1981489745DHCR7c.483C= (p.Asn161=)
c.309C= (p.Asn103=)
c.519C= (p.Asn173=)
n.760C=
c.-103C= (n.-103C=)
c.387C= (p.Asn129=)
11g.71441370G>TCA381694583DHCR7c.483C>A (p.Asn161Lys)
c.309C>A (p.Asn103Lys)
c.519C>A (p.Asn173Lys)
n.760C>A
c.-103C>A (n.-103C>A)
c.387C>A (p.Asn129Lys)
11g.71441371T>ACA381694585DHCR7c.482A>T (p.Asn161Ile)
c.308A>T (p.Asn103Ile)
c.518A>T (p.Asn173Ile)
n.759A>T
c.-104A>T (n.-104A>T)
c.386A>T (p.Asn129Ile)
 gnomAD v4
11g.71441371T>CCA381694586DHCR7c.482A>G (p.Asn161Ser)
c.308A>G (p.Asn103Ser)
c.518A>G (p.Asn173Ser)
n.759A>G
c.-104A>G (n.-104A>G)
c.386A>G (p.Asn129Ser)
11g.71441371T>GCA381694587DHCR7c.482A>C (p.Asn161Thr)
c.308A>C (p.Asn103Thr)
c.518A>C (p.Asn173Thr)
n.759A>C
c.-104A>C (n.-104A>C)
c.386A>C (p.Asn129Thr)
11g.71441372T>ACA381694588DHCR7c.481A>T (p.Asn161Tyr)
c.307A>T (p.Asn103Tyr)
c.517A>T (p.Asn173Tyr)
n.758A>T
c.-105A>T (n.-105A>T)
c.385A>T (p.Asn129Tyr)
11g.71441372T>CCA381694589DHCR7c.481A>G (p.Asn161Asp)
c.307A>G (p.Asn103Asp)
c.517A>G (p.Asn173Asp)
n.758A>G
c.-105A>G (n.-105A>G)
c.385A>G (p.Asn129Asp)
 COSMIC COSMIC
11g.71441372T>GCA381694590DHCR7c.481A>C (p.Asn161His)
c.307A>C (p.Asn103His)
c.517A>C (p.Asn173His)
n.758A>C
c.-105A>C (n.-105A>C)
c.385A>C (p.Asn129His)
 COSMIC COSMIC
11g.71441373T>ACA475518340DHCR7c.480A>T (p.Ala160=)
c.306A>T (p.Ala102=)
c.516A>T (p.Ala172=)
n.757A>T
c.-106A>T (n.-106A>T)
c.384A>T (p.Ala128=)
11g.71441373T>CCA475518341DHCR7c.480A>G (p.Ala160=)
c.306A>G (p.Ala102=)
c.516A>G (p.Ala172=)
n.757A>G
c.-106A>G (n.-106A>G)
c.384A>G (p.Ala128=)
 ClinVar dbSNP
11g.71441373T>GCA475518342DHCR7c.480A>C (p.Ala160=)
c.306A>C (p.Ala102=)
c.516A>C (p.Ala172=)
n.757A>C
c.-106A>C (n.-106A>C)
c.384A>C (p.Ala128=)
11g.71441374G>ACA381694591DHCR7c.479C>T (p.Ala160Val)
c.305C>T (p.Ala102Val)
c.515C>T (p.Ala172Val)
n.756C>T
c.-107C>T (n.-107C>T)
c.383C>T (p.Ala128Val)
11g.71441374G>CCA381694592DHCR7c.479C>G (p.Ala160Gly)
c.305C>G (p.Ala102Gly)
c.515C>G (p.Ala172Gly)
n.756C>G
c.-107C>G (n.-107C>G)
c.383C>G (p.Ala128Gly)
11g.71441374G>TCA381694593DHCR7c.479C>A (p.Ala160Glu)
c.305C>A (p.Ala102Glu)
c.515C>A (p.Ala172Glu)
n.756C>A
c.-107C>A (n.-107C>A)
c.383C>A (p.Ala128Glu)
11g.71441375C>ACA381694594DHCR7c.478G>T (p.Ala160Ser)
c.304G>T (p.Ala102Ser)
c.514G>T (p.Ala172Ser)
n.755G>T
c.-108G>T (n.-108G>T)
c.382G>T (p.Ala128Ser)
 ClinVar dbSNP gnomAD v4
11g.71441375C=CA1981489746DHCR7c.478G= (p.Ala160=)
c.304G= (p.Ala102=)
c.514G= (p.Ala172=)
n.755G=
c.-108G= (n.-108G=)
c.382G= (p.Ala128=)
11g.71441375C>GCA381694595DHCR7c.478G>C (p.Ala160Pro)
c.304G>C (p.Ala102Pro)
c.514G>C (p.Ala172Pro)
n.755G>C
c.-108G>C (n.-108G>C)
c.382G>C (p.Ala128Pro)
11g.71441375C>TCA381694596DHCR7c.478G>A (p.Ala160Thr)
c.304G>A (p.Ala102Thr)
c.514G>A (p.Ala172Thr)
n.755G>A
c.-108G>A (n.-108G>A)
c.382G>A (p.Ala128Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71441376A>CCA381694597DHCR7c.477T>G (p.Phe159Leu)
c.303T>G (p.Phe101Leu)
c.513T>G (p.Phe171Leu)
n.754T>G
c.-109T>G (n.-109T>G)
c.381T>G (p.Phe127Leu)
11g.71441376A>GCA475518343DHCR7c.477T>C (p.Phe159=)
c.303T>C (p.Phe101=)
c.513T>C (p.Phe171=)
n.754T>C
c.-109T>C (n.-109T>C)
c.381T>C (p.Phe127=)
11g.71441376A>TCA381694598DHCR7c.477T>A (p.Phe159Leu)
c.303T>A (p.Phe101Leu)
c.513T>A (p.Phe171Leu)
n.754T>A
c.-109T>A (n.-109T>A)
c.381T>A (p.Phe127Leu)
11g.71441377A>CCA381694601DHCR7c.476T>G (p.Phe159Cys)
c.302T>G (p.Phe101Cys)
c.512T>G (p.Phe171Cys)
n.753T>G
c.-110T>G (n.-110T>G)
c.380T>G (p.Phe127Cys)
11g.71441377A>GCA381694600DHCR7c.476T>C (p.Phe159Ser)
c.302T>C (p.Phe101Ser)
c.512T>C (p.Phe171Ser)
n.753T>C
c.-110T>C (n.-110T>C)
c.380T>C (p.Phe127Ser)
11g.71441377A>TCA381694599DHCR7c.476T>A (p.Phe159Tyr)
c.302T>A (p.Phe101Tyr)
c.512T>A (p.Phe171Tyr)
n.753T>A
c.-110T>A (n.-110T>A)
c.380T>A (p.Phe127Tyr)
11g.71441378A=CA1981489747DHCR7c.475T= (p.Phe159=)
c.301T= (p.Phe101=)
c.511T= (p.Phe171=)
n.752T=
c.-111T= (n.-111T=)
c.379T= (p.Phe127=)
11g.71441378A>CCA381694602DHCR7c.475T>G (p.Phe159Val)
c.301T>G (p.Phe101Val)
c.511T>G (p.Phe171Val)
n.752T>G
c.-111T>G (n.-111T>G)
c.379T>G (p.Phe127Val)
11g.71441378A>GCA6162554DHCR7c.475T>C (p.Phe159Leu)
c.301T>C (p.Phe101Leu)
c.511T>C (p.Phe171Leu)
n.752T>C
c.-111T>C (n.-111T>C)
c.379T>C (p.Phe127Leu)
 ClinVar dbSNP ExAC gnomAD v2
11g.71441378A>TCA381694603DHCR7c.475T>A (p.Phe159Ile)
c.301T>A (p.Phe101Ile)
c.511T>A (p.Phe171Ile)
n.752T>A
c.-111T>A (n.-111T>A)
c.379T>A (p.Phe127Ile)
11g.71441379C>ACA6162555DHCR7c.474G>T (p.Trp158Cys)
c.300G>T (p.Trp100Cys)
c.510G>T (p.Trp170Cys)
n.751G>T
c.-112G>T (n.-112G>T)
c.378G>T (p.Trp126Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441379C=CA1981489748DHCR7c.474G= (p.Trp158=)
c.300G= (p.Trp100=)
c.510G= (p.Trp170=)
n.751G=
c.-112G= (n.-112G=)
c.378G= (p.Trp126=)
11g.71441379C>GCA381694604DHCR7c.474G>C (p.Trp158Cys)
c.300G>C (p.Trp100Cys)
c.510G>C (p.Trp170Cys)
n.751G>C
c.-112G>C (n.-112G>C)
c.378G>C (p.Trp126Cys)
11g.71441379C>TCA381694605DHCR7c.474G>A (p.Trp158Ter)
c.300G>A (p.Trp100Ter)
c.510G>A (p.Trp170Ter)
n.751G>A
c.-112G>A (n.-112G>A)
c.378G>A (p.Trp126Ter)
 ClinVar gnomAD v4
11g.71441380C>ACA381694606DHCR7c.473G>T (p.Trp158Leu)
c.299G>T (p.Trp100Leu)
c.509G>T (p.Trp170Leu)
n.750G>T
c.-113G>T (n.-113G>T)
c.377G>T (p.Trp126Leu)
11g.71441380C=CA1981489749DHCR7c.473G= (p.Trp158=)
c.299G= (p.Trp100=)
c.509G= (p.Trp170=)
n.750G=
c.-113G= (n.-113G=)
c.377G= (p.Trp126=)
11g.71441380C>GCA381694607DHCR7c.473G>C (p.Trp158Ser)
c.299G>C (p.Trp100Ser)
c.509G>C (p.Trp170Ser)
n.750G>C
c.-113G>C (n.-113G>C)
c.377G>C (p.Trp126Ser)
11g.71441380C>TCA381694608DHCR7c.473G>A (p.Trp158Ter)
c.299G>A (p.Trp100Ter)
c.509G>A (p.Trp170Ter)
n.750G>A
c.-113G>A (n.-113G>A)
c.377G>A (p.Trp126Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71441381A>CCA381694609DHCR7c.472T>G (p.Trp158Gly)
c.298T>G (p.Trp100Gly)
c.508T>G (p.Trp170Gly)
n.749T>G
c.-114T>G (n.-114T>G)
c.376T>G (p.Trp126Gly)
11g.71441381A>GCA381694610DHCR7c.472T>C (p.Trp158Arg)
c.298T>C (p.Trp100Arg)
c.508T>C (p.Trp170Arg)
n.749T>C
c.-114T>C (n.-114T>C)
c.376T>C (p.Trp126Arg)
11g.71441381A>TCA381694611DHCR7c.472T>A (p.Trp158Arg)
c.298T>A (p.Trp100Arg)
c.508T>A (p.Trp170Arg)
n.749T>A
c.-114T>A (n.-114T>A)
c.376T>A (p.Trp126Arg)
11g.71441382G>ACA475518344DHCR7c.471C>T (p.Leu157=)
c.297C>T (p.Leu99=)
c.507C>T (p.Leu169=)
n.748C>T
c.-115C>T (n.-115C>T)
c.375C>T (p.Leu125=)
11g.71441382G>CCA224279855DHCR7c.471C>G (p.Leu157=)
c.297C>G (p.Leu99=)
c.507C>G (p.Leu169=)
n.748C>G
c.-115C>G (n.-115C>G)
c.375C>G (p.Leu125=)
 ClinVar dbSNP gnomAD v4
11g.71441382G=CA1981489750DHCR7c.471C= (p.Leu157=)
c.297C= (p.Leu99=)
c.507C= (p.Leu169=)
n.748C=
c.-115C= (n.-115C=)
c.375C= (p.Leu125=)
11g.71441382G>TCA475518346DHCR7c.471C>A (p.Leu157=)
c.297C>A (p.Leu99=)
c.507C>A (p.Leu169=)
n.748C>A
c.-115C>A (n.-115C>A)
c.375C>A (p.Leu125=)
11g.71441383A=CA1981489751DHCR7c.470T= (p.Leu157=)
c.296T= (p.Leu99=)
c.506T= (p.Leu169=)
n.747T=
c.-116T= (n.-116T=)
c.374T= (p.Leu125=)
11g.71441383A>CCA381694613DHCR7c.470T>G (p.Leu157Arg)
c.296T>G (p.Leu99Arg)
c.506T>G (p.Leu169Arg)
n.747T>G
c.-116T>G (n.-116T>G)
c.374T>G (p.Leu125Arg)
11g.71441383A>GCA6162556DHCR7c.470T>C (p.Leu157Pro)
c.296T>C (p.Leu99Pro)
c.506T>C (p.Leu169Pro)
n.747T>C
c.-116T>C (n.-116T>C)
c.374T>C (p.Leu125Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441383A>TCA381694612DHCR7c.470T>A (p.Leu157His)
c.296T>A (p.Leu99His)
c.506T>A (p.Leu169His)
n.747T>A
c.-116T>A (n.-116T>A)
c.374T>A (p.Leu125His)
11g.71441383_71441384insCACACCCAACCA2792628223DHCR7c.469_470insGTTGGGTGTG (p.Leu157ArgfsTer?)
c.295_296insGTTGGGTGTG (p.Leu99ArgfsTer?)
c.505_506insGTTGGGTGTG (p.Leu169ArgfsTer?)
n.746_747insGTTGGGTGTG
c.-117_-116insGTTGGGTGTG (n.-117_-116insGTTGGGTGTG)
c.373_374insGTTGGGTGTG (p.Leu125ArgfsTer?)
11g.71441384G>ACA381694614DHCR7c.469C>T (p.Leu157Phe)
c.295C>T (p.Leu99Phe)
c.505C>T (p.Leu169Phe)
n.746C>T
c.-117C>T (n.-117C>T)
c.373C>T (p.Leu125Phe)
11g.71441384G>CCA381694615DHCR7c.469C>G (p.Leu157Val)
c.295C>G (p.Leu99Val)
c.505C>G (p.Leu169Val)
n.746C>G
c.-117C>G (n.-117C>G)
c.373C>G (p.Leu125Val)
 dbSNP gnomAD v4
11g.71441384G=CA1981489752DHCR7c.469C= (p.Leu157=)
c.295C= (p.Leu99=)
c.505C= (p.Leu169=)
n.746C=
c.-117C= (n.-117C=)
c.373C= (p.Leu125=)
11g.71441384G>TCA381694616DHCR7c.469C>A (p.Leu157Ile)
c.295C>A (p.Leu99Ile)
c.505C>A (p.Leu169Ile)
n.746C>A
c.-117C>A (n.-117C>A)
c.373C>A (p.Leu125Ile)
11g.71441385C>ACA475518379DHCR7c.468G>T (p.Leu156=)
c.294G>T (p.Leu98=)
c.504G>T (p.Leu168=)
n.745G>T
c.-118G>T (n.-118G>T)
c.372G>T (p.Leu124=)
11g.71441385C=CA1981489753DHCR7c.468G= (p.Leu156=)
c.294G= (p.Leu98=)
c.504G= (p.Leu168=)
n.745G=
c.-118G= (n.-118G=)
c.372G= (p.Leu124=)
11g.71441385C>GCA475518380DHCR7c.468G>C (p.Leu156=)
c.294G>C (p.Leu98=)
c.504G>C (p.Leu168=)
n.745G>C
c.-118G>C (n.-118G>C)
c.372G>C (p.Leu124=)
 dbSNP
11g.71441385C>TCA475518383DHCR7c.468G>A (p.Leu156=)
c.294G>A (p.Leu98=)
c.504G>A (p.Leu168=)
n.745G>A
c.-118G>A (n.-118G>A)
c.372G>A (p.Leu124=)
 dbSNP gnomAD v2
11g.71441386A>CCA381694617DHCR7c.467T>G (p.Leu156Arg)
c.293T>G (p.Leu98Arg)
c.503T>G (p.Leu168Arg)
n.744T>G
c.-119T>G (n.-119T>G)
c.371T>G (p.Leu124Arg)
11g.71441386A>GCA381694618DHCR7c.467T>C (p.Leu156Pro)
c.293T>C (p.Leu98Pro)
c.503T>C (p.Leu168Pro)
n.744T>C
c.-119T>C (n.-119T>C)
c.371T>C (p.Leu124Pro)
 gnomAD v4
11g.71441386A>TCA381694619DHCR7c.467T>A (p.Leu156Gln)
c.293T>A (p.Leu98Gln)
c.503T>A (p.Leu168Gln)
n.744T>A
c.-119T>A (n.-119T>A)
c.371T>A (p.Leu124Gln)
11g.71441386dupCA1981489754DHCR7c.467dup (p.Leu157AlafsTer?)
c.293dup (p.Leu99AlafsTer?)
c.503dup (p.Leu169AlafsTer?)
n.744dup
c.-119dup (n.-119dup)
c.371dup (p.Leu125AlafsTer?)
 dbSNP
11g.71441387G>ACA475518391DHCR7c.466C>T (p.Leu156=)
c.292C>T (p.Leu98=)
c.502C>T (p.Leu168=)
n.743C>T
c.-120C>T (n.-120C>T)
c.370C>T (p.Leu124=)
 ClinVar dbSNP
11g.71441387G>CCA381694620DHCR7c.466C>G (p.Leu156Val)
c.292C>G (p.Leu98Val)
c.502C>G (p.Leu168Val)
n.743C>G
c.-120C>G (n.-120C>G)
c.370C>G (p.Leu124Val)
 gnomAD v4
11g.71441387G=CA1981489755DHCR7c.466C= (p.Leu156=)
c.292C= (p.Leu98=)
c.502C= (p.Leu168=)
n.743C=
c.-120C= (n.-120C=)
c.370C= (p.Leu124=)
11g.71441387G>TCA381694621DHCR7c.466C>A (p.Leu156Met)
c.292C>A (p.Leu98Met)
c.502C>A (p.Leu168Met)
n.743C>A
c.-120C>A (n.-120C>A)
c.370C>A (p.Leu124Met)
11g.71441388G>ACA475518396DHCR7c.465C>T (p.His155=)
c.291C>T (p.His97=)
c.501C>T (p.His167=)
n.742C>T
c.-121C>T (n.-121C>T)
c.369C>T (p.His123=)
 ClinVar dbSNP gnomAD v4
11g.71441388G>CCA381694622DHCR7c.465C>G (p.His155Gln)
c.291C>G (p.His97Gln)
c.501C>G (p.His167Gln)
n.742C>G
c.-121C>G (n.-121C>G)
c.369C>G (p.His123Gln)
11g.71441388G=CA1981489756DHCR7c.465C= (p.His155=)
c.291C= (p.His97=)
c.501C= (p.His167=)
n.742C=
c.-121C= (n.-121C=)
c.369C= (p.His123=)
11g.71441388G>TCA381694623DHCR7c.465C>A (p.His155Gln)
c.291C>A (p.His97Gln)
c.501C>A (p.His167Gln)
n.742C>A
c.-121C>A (n.-121C>A)
c.369C>A (p.His123Gln)
11g.71441389T>ACA381694624DHCR7c.464A>T (p.His155Leu)
c.290A>T (p.His97Leu)
c.500A>T (p.His167Leu)
n.741A>T
c.-122A>T (n.-122A>T)
c.368A>T (p.His123Leu)
11g.71441389T>CCA381694625DHCR7c.464A>G (p.His155Arg)
c.290A>G (p.His97Arg)
c.500A>G (p.His167Arg)
n.741A>G
c.-122A>G (n.-122A>G)
c.368A>G (p.His123Arg)
 ClinVar gnomAD v4
11g.71441389T>GCA381694626DHCR7c.464A>C (p.His155Pro)
c.290A>C (p.His97Pro)
c.500A>C (p.His167Pro)
n.741A>C
c.-122A>C (n.-122A>C)
c.368A>C (p.His123Pro)
11g.71441390G>ACA381694628DHCR7c.463C>T (p.His155Tyr)
c.289C>T (p.His97Tyr)
c.499C>T (p.His167Tyr)
n.740C>T
c.-123C>T (n.-123C>T)
c.367C>T (p.His123Tyr)
 gnomAD v4
11g.71441390G>CCA381694629DHCR7c.463C>G (p.His155Asp)
c.289C>G (p.His97Asp)
c.499C>G (p.His167Asp)
n.740C>G
c.-123C>G (n.-123C>G)
c.367C>G (p.His123Asp)
11g.71441390G>TCA381694627DHCR7c.463C>A (p.His155Asn)
c.289C>A (p.His97Asn)
c.499C>A (p.His167Asn)
n.740C>A
c.-123C>A (n.-123C>A)
c.367C>A (p.His123Asn)
11g.71441391C>ACA475518411DHCR7c.462G>T (p.Thr154=)
c.288G>T (p.Thr96=)
c.498G>T (p.Thr166=)
n.739G>T
c.-124G>T (n.-124G>T)
c.366G>T (p.Thr122=)
 ClinVar dbSNP gnomAD v4
11g.71441391C=CA1981489757DHCR7c.462G= (p.Thr154=)
c.288G= (p.Thr96=)
c.498G= (p.Thr166=)
n.739G=
c.-124G= (n.-124G=)
c.366G= (p.Thr122=)
11g.71441391C>GCA475518412DHCR7c.462G>C (p.Thr154=)
c.288G>C (p.Thr96=)
c.498G>C (p.Thr166=)
n.739G>C
c.-124G>C (n.-124G>C)
c.366G>C (p.Thr122=)
 gnomAD v4
11g.71441391C>TCA475518415DHCR7c.462G>A (p.Thr154=)
c.288G>A (p.Thr96=)
c.498G>A (p.Thr166=)
n.739G>A
c.-124G>A (n.-124G>A)
c.366G>A (p.Thr122=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71441392G>ACA274131DHCR7c.461C>T (p.Thr154Met)
c.287C>T (p.Thr96Met)
c.497C>T (p.Thr166Met)
n.738C>T
c.-125C>T (n.-125C>T)
c.365C>T (p.Thr122Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71441392G>CCA233884DHCR7c.461C>G (p.Thr154Arg)
c.287C>G (p.Thr96Arg)
c.497C>G (p.Thr166Arg)
n.738C>G
c.-125C>G (n.-125C>G)
c.365C>G (p.Thr122Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71441392G=CA1981489758DHCR7c.461C= (p.Thr154=)
c.287C= (p.Thr96=)
c.497C= (p.Thr166=)
n.738C=
c.-125C= (n.-125C=)
c.365C= (p.Thr122=)
11g.71441392G>TCA381694630DHCR7c.461C>A (p.Thr154Lys)
c.287C>A (p.Thr96Lys)
c.497C>A (p.Thr166Lys)
n.738C>A
c.-125C>A (n.-125C>A)
c.365C>A (p.Thr122Lys)
11g.71441393T>ACA381694631DHCR7c.460A>T (p.Thr154Ser)
c.286A>T (p.Thr96Ser)
c.496A>T (p.Thr166Ser)
n.737A>T
c.-126A>T (n.-126A>T)
c.364A>T (p.Thr122Ser)
11g.71441393T>CCA6162557DHCR7c.460A>G (p.Thr154Ala)
c.286A>G (p.Thr96Ala)
c.496A>G (p.Thr166Ala)
n.737A>G
c.-126A>G (n.-126A>G)
c.364A>G (p.Thr122Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71441393T>GCA381694632DHCR7c.460A>C (p.Thr154Pro)
c.286A>C (p.Thr96Pro)
c.496A>C (p.Thr166Pro)
n.737A>C
c.-126A>C (n.-126A>C)
c.364A>C (p.Thr122Pro)
11g.71441393T=CA1981489759DHCR7c.460A= (p.Thr154=)
c.286A= (p.Thr96=)
c.496A= (p.Thr166=)
n.737A=
c.-126A= (n.-126A=)
c.364A= (p.Thr122=)
11g.71441394G>ACA475518428DHCR7c.459C>T (p.Leu153=)
c.285C>T (p.Leu95=)
c.495C>T (p.Leu165=)
n.736C>T
c.-127C>T (n.-127C>T)
c.363C>T (p.Leu121=)
11g.71441394G>CCA475518430DHCR7c.459C>G (p.Leu153=)
c.285C>G (p.Leu95=)
c.495C>G (p.Leu165=)
n.736C>G
c.-127C>G (n.-127C>G)
c.363C>G (p.Leu121=)
11g.71441394G>TCA475518432DHCR7c.459C>A (p.Leu153=)
c.285C>A (p.Leu95=)
c.495C>A (p.Leu165=)
n.736C>A
c.-127C>A (n.-127C>A)
c.363C>A (p.Leu121=)
11g.71441395A>CCA381694635DHCR7c.458T>G (p.Leu153Arg)
c.284T>G (p.Leu95Arg)
c.494T>G (p.Leu165Arg)
n.735T>G
c.-128T>G (n.-128T>G)
c.362T>G (p.Leu121Arg)
11g.71441395A>GCA381694634DHCR7c.458T>C (p.Leu153Pro)
c.284T>C (p.Leu95Pro)
c.494T>C (p.Leu165Pro)
n.735T>C
c.-128T>C (n.-128T>C)
c.362T>C (p.Leu121Pro)
11g.71441395A>TCA381694633DHCR7c.458T>A (p.Leu153His)
c.284T>A (p.Leu95His)
c.494T>A (p.Leu165His)
n.735T>A
c.-128T>A (n.-128T>A)
c.362T>A (p.Leu121His)
11g.71441396G>ACA381694636DHCR7c.457C>T (p.Leu153Phe)
c.283C>T (p.Leu95Phe)
c.493C>T (p.Leu165Phe)
n.734C>T
c.-129C>T (n.-129C>T)
c.361C>T (p.Leu121Phe)
11g.71441396G>CCA381694637DHCR7c.457C>G (p.Leu153Val)
c.283C>G (p.Leu95Val)
c.493C>G (p.Leu165Val)
n.734C>G
c.-129C>G (n.-129C>G)
c.361C>G (p.Leu121Val)
11g.71441396G>TCA381694638DHCR7c.457C>A (p.Leu153Ile)
c.283C>A (p.Leu95Ile)
c.493C>A (p.Leu165Ile)
n.734C>A
c.-129C>A (n.-129C>A)
c.361C>A (p.Leu121Ile)
11g.71441397G>ACA475518441DHCR7c.456C>T (p.Leu152=)
c.282C>T (p.Leu94=)
c.492C>T (p.Leu164=)
n.733C>T
c.-130C>T (n.-130C>T)
c.360C>T (p.Leu120=)
 gnomAD v4
11g.71441397G>CCA475518445DHCR7c.456C>G (p.Leu152=)
c.282C>G (p.Leu94=)
c.492C>G (p.Leu164=)
n.733C>G
c.-130C>G (n.-130C>G)
c.360C>G (p.Leu120=)
11g.71441397G>TCA475518443DHCR7c.456C>A (p.Leu152=)
c.282C>A (p.Leu94=)
c.492C>A (p.Leu164=)
n.733C>A
c.-130C>A (n.-130C>A)
c.360C>A (p.Leu120=)
11g.71441398A>CCA381694639DHCR7c.455T>G (p.Leu152Arg)
c.281T>G (p.Leu94Arg)
c.491T>G (p.Leu164Arg)
n.732T>G
c.-131T>G (n.-131T>G)
c.359T>G (p.Leu120Arg)
11g.71441398A>GCA381694640DHCR7c.455T>C (p.Leu152Pro)
c.281T>C (p.Leu94Pro)
c.491T>C (p.Leu164Pro)
n.732T>C
c.-131T>C (n.-131T>C)
c.359T>C (p.Leu120Pro)
11g.71441398A>TCA381694641DHCR7c.455T>A (p.Leu152His)
c.281T>A (p.Leu94His)
c.491T>A (p.Leu164His)
n.732T>A
c.-131T>A (n.-131T>A)
c.359T>A (p.Leu120His)
11g.71441399G>ACA381694642DHCR7c.454C>T (p.Leu152Phe)
c.280C>T (p.Leu94Phe)
c.490C>T (p.Leu164Phe)
n.731C>T
c.-132C>T (n.-132C>T)
c.358C>T (p.Leu120Phe)
 ClinVar dbSNP gnomAD v4
11g.71441399G>CCA381694644DHCR7c.454C>G (p.Leu152Val)
c.280C>G (p.Leu94Val)
c.490C>G (p.Leu164Val)
n.731C>G
c.-132C>G (n.-132C>G)
c.358C>G (p.Leu120Val)
11g.71441399G=CA1981489760DHCR7c.454C= (p.Leu152=)
c.280C= (p.Leu94=)
c.490C= (p.Leu164=)
n.731C=
c.-132C= (n.-132C=)
c.358C= (p.Leu120=)
11g.71441399G>TCA381694643DHCR7c.454C>A (p.Leu152Ile)
c.280C>A (p.Leu94Ile)
c.490C>A (p.Leu164Ile)
n.731C>A
c.-132C>A (n.-132C>A)
c.358C>A (p.Leu120Ile)
 gnomAD v4
11g.71441400C>ACA381694645DHCR7c.453G>T (p.Trp151Cys)
c.279G>T (p.Trp93Cys)
c.489G>T (p.Trp163Cys)
n.730G>T
c.-133G>T (n.-133G>T)
c.357G>T (p.Trp119Cys)
11g.71441400C=CA1981489761DHCR7c.453G= (p.Trp151=)
c.279G= (p.Trp93=)
c.489G= (p.Trp163=)
n.730G=
c.-133G= (n.-133G=)
c.357G= (p.Trp119=)
11g.71441400C>GCA381694646DHCR7c.453G>C (p.Trp151Cys)
c.279G>C (p.Trp93Cys)
c.489G>C (p.Trp163Cys)
n.730G>C
c.-133G>C (n.-133G>C)
c.357G>C (p.Trp119Cys)
 gnomAD v4
11g.71441400C>TCA253945DHCR7c.453G>A (p.Trp151Ter)
c.279G>A (p.Trp93Ter)
c.489G>A (p.Trp163Ter)
n.730G>A
c.-133G>A (n.-133G>A)
c.357G>A (p.Trp119Ter)
 ClinVar dbSNP
11g.71441401C>ACA381694647DHCR7c.452G>T (p.Trp151Leu)
c.278G>T (p.Trp93Leu)
c.488G>T (p.Trp163Leu)
n.729G>T
c.-134G>T (n.-134G>T)
c.356G>T (p.Trp119Leu)
 gnomAD v4
11g.71441401C=CA1981489762DHCR7c.452G= (p.Trp151=)
c.278G= (p.Trp93=)
c.488G= (p.Trp163=)
n.729G=
c.-134G= (n.-134G=)
c.356G= (p.Trp119=)
11g.71441401C>GCA224279872DHCR7c.452G>C (p.Trp151Ser)
c.278G>C (p.Trp93Ser)
c.488G>C (p.Trp163Ser)
n.729G>C
c.-134G>C (n.-134G>C)
c.356G>C (p.Trp119Ser)
 dbSNP
11g.71441401C>TCA221671DHCR7c.452G>A (p.Trp151Ter)
c.278G>A (p.Trp93Ter)
c.488G>A (p.Trp163Ter)
n.729G>A
c.-134G>A (n.-134G>A)
c.356G>A (p.Trp119Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched