Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71435737_71435739delCA2614857236DHCR7c.1068_1070del (p.His356del)
c.894_896del (p.His298del)
c.1119_1121del (p.His373del)
c.1104_1106del (p.His368del)
c.1076_1078del (p.Thr359del)
n.1108_1110del
c.483_485del (p.His161del)
c.972_974del (p.His324del)
c.569_571del (p.Thr190del)
c.318_320del (p.His106del)
c.319+2077_319+2079del
c.1202_1204del (p.Thr401del)
 gnomAD v4
11g.71435738delCA6162323DHCR7c.1066del (p.His356ThrfsTer?)
c.892del (p.His298ThrfsTer?)
c.1117del (p.His373ThrfsTer?)
c.1102del (p.His368ThrfsTer?)
c.1074del (p.Thr359ProfsTer?)
n.1106del
c.481del (p.His161ThrfsTer?)
c.970del (p.His324ThrfsTer?)
c.567del (p.Thr190ProfsTer?)
c.316del (p.His106ThrfsTer?)
c.319+2075del
c.1200del (p.Thr401ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435738G>ACA381702186DHCR7c.1065C>T (p.Asn355=)
c.891C>T (p.Asn297=)
c.1116C>T (p.Asn372=)
c.1101C>T (p.Asn367=)
c.1073C>T (p.Thr358Ile)
n.1105C>T
c.480C>T (p.Asn160=)
c.969C>T (p.Asn323=)
c.566C>T (p.Thr189Ile)
c.315C>T (p.Asn105=)
c.319+2074C>T
c.1199C>T (p.Thr400Ile)
 dbSNP
11g.71435738G>CCA381702187DHCR7c.1065C>G (p.Asn355Lys)
c.891C>G (p.Asn297Lys)
c.1116C>G (p.Asn372Lys)
c.1101C>G (p.Asn367Lys)
c.1073C>G (p.Thr358Ser)
n.1105C>G
c.480C>G (p.Asn160Lys)
c.969C>G (p.Asn323Lys)
c.566C>G (p.Thr189Ser)
c.315C>G (p.Asn105Lys)
c.319+2074C>G
c.1199C>G (p.Thr400Ser)
11g.71435738G=CA1981486994DHCR7c.1065C= (p.Asn355=)
c.891C= (p.Asn297=)
c.1116C= (p.Asn372=)
c.1101C= (p.Asn367=)
c.1073C= (p.Thr358=)
n.1105C=
c.480C= (p.Asn160=)
c.969C= (p.Asn323=)
c.566C= (p.Thr189=)
c.315C= (p.Asn105=)
c.319+2074C=
c.1199C= (p.Thr400=)
11g.71435738G>TCA381702189DHCR7c.1065C>A (p.Asn355Lys)
c.891C>A (p.Asn297Lys)
c.1116C>A (p.Asn372Lys)
c.1101C>A (p.Asn367Lys)
c.1073C>A (p.Thr358Asn)
n.1105C>A
c.480C>A (p.Asn160Lys)
c.969C>A (p.Asn323Lys)
c.566C>A (p.Thr189Asn)
c.315C>A (p.Asn105Lys)
c.319+2074C>A
c.1199C>A (p.Thr400Asn)
11g.71435739T>ACA381702191DHCR7c.1064A>T (p.Asn355Ile)
c.890A>T (p.Asn297Ile)
c.1115A>T (p.Asn372Ile)
c.1100A>T (p.Asn367Ile)
c.1072A>T (p.Thr358Ser)
n.1104A>T
c.479A>T (p.Asn160Ile)
c.968A>T (p.Asn323Ile)
c.565A>T (p.Thr189Ser)
c.314A>T (p.Asn105Ile)
c.319+2073A>T
c.1198A>T (p.Thr400Ser)
11g.71435739T>CCA381702193DHCR7c.1064A>G (p.Asn355Ser)
c.890A>G (p.Asn297Ser)
c.1115A>G (p.Asn372Ser)
c.1100A>G (p.Asn367Ser)
c.1072A>G (p.Thr358Ala)
n.1104A>G
c.479A>G (p.Asn160Ser)
c.968A>G (p.Asn323Ser)
c.565A>G (p.Thr189Ala)
c.314A>G (p.Asn105Ser)
c.319+2073A>G
c.1198A>G (p.Thr400Ala)
11g.71435739T>GCA381702194DHCR7c.1064A>C (p.Asn355Thr)
c.890A>C (p.Asn297Thr)
c.1115A>C (p.Asn372Thr)
c.1100A>C (p.Asn367Thr)
c.1072A>C (p.Thr358Pro)
n.1104A>C
c.479A>C (p.Asn160Thr)
c.968A>C (p.Asn323Thr)
c.565A>C (p.Thr189Pro)
c.314A>C (p.Asn105Thr)
c.319+2073A>C
c.1198A>C (p.Thr400Pro)
 dbSNP
11g.71435739T=CA1981486995DHCR7c.1064A= (p.Asn355=)
c.890A= (p.Asn297=)
c.1115A= (p.Asn372=)
c.1100A= (p.Asn367=)
c.1072A= (p.Thr358=)
n.1104A=
c.479A= (p.Asn160=)
c.968A= (p.Asn323=)
c.565A= (p.Thr189=)
c.314A= (p.Asn105=)
c.319+2073A=
c.1198A= (p.Thr400=)
11g.71435740T>ACA381702196DHCR7c.1063A>T (p.Asn355Tyr)
c.889A>T (p.Asn297Tyr)
c.1114A>T (p.Asn372Tyr)
c.1099A>T (p.Asn367Tyr)
c.1071A>T (p.Pro357=)
n.1103A>T
c.478A>T (p.Asn160Tyr)
c.967A>T (p.Asn323Tyr)
c.564A>T (p.Pro188=)
c.313A>T (p.Asn105Tyr)
c.319+2072A>T
c.1197A>T (p.Pro399=)
11g.71435740T>CCA381702202DHCR7c.1063A>G (p.Asn355Asp)
c.889A>G (p.Asn297Asp)
c.1114A>G (p.Asn372Asp)
c.1099A>G (p.Asn367Asp)
c.1071A>G (p.Pro357=)
n.1103A>G
c.478A>G (p.Asn160Asp)
c.967A>G (p.Asn323Asp)
c.564A>G (p.Pro188=)
c.313A>G (p.Asn105Asp)
c.319+2072A>G
c.1197A>G (p.Pro399=)
 dbSNP
11g.71435740T>GCA381702204DHCR7c.1063A>C (p.Asn355His)
c.889A>C (p.Asn297His)
c.1114A>C (p.Asn372His)
c.1099A>C (p.Asn367His)
c.1071A>C (p.Pro357=)
n.1103A>C
c.478A>C (p.Asn160His)
c.967A>C (p.Asn323His)
c.564A>C (p.Pro188=)
c.313A>C (p.Asn105His)
c.319+2072A>C
c.1197A>C (p.Pro399=)
11g.71435740T=CA1981486996DHCR7c.1063A= (p.Asn355=)
c.889A= (p.Asn297=)
c.1114A= (p.Asn372=)
c.1099A= (p.Asn367=)
c.1071A= (p.Pro357=)
n.1103A=
c.478A= (p.Asn160=)
c.967A= (p.Asn323=)
c.564A= (p.Pro188=)
c.313A= (p.Asn105=)
c.319+2072A=
c.1197A= (p.Pro399=)
11g.71435741G>ACA381702207DHCR7c.1062C>T (p.Ala354=)
c.888C>T (p.Ala296=)
c.1113C>T (p.Ala371=)
c.1098C>T (p.Ala366=)
c.1070C>T (p.Pro357Leu)
n.1102C>T
c.477C>T (p.Ala159=)
c.966C>T (p.Ala322=)
c.563C>T (p.Pro188Leu)
c.312C>T (p.Ala104=)
c.319+2071C>T
c.1196C>T (p.Pro399Leu)
11g.71435741G>CCA6162324DHCR7c.1062C>G (p.Ala354=)
c.888C>G (p.Ala296=)
c.1113C>G (p.Ala371=)
c.1098C>G (p.Ala366=)
c.1070C>G (p.Pro357Arg)
n.1102C>G
c.477C>G (p.Ala159=)
c.966C>G (p.Ala322=)
c.563C>G (p.Pro188Arg)
c.312C>G (p.Ala104=)
c.319+2071C>G
c.1196C>G (p.Pro399Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435741G=CA1981486997DHCR7c.1062C= (p.Ala354=)
c.888C= (p.Ala296=)
c.1113C= (p.Ala371=)
c.1098C= (p.Ala366=)
c.1070C= (p.Pro357=)
n.1102C=
c.477C= (p.Ala159=)
c.966C= (p.Ala322=)
c.563C= (p.Pro188=)
c.312C= (p.Ala104=)
c.319+2071C=
c.1196C= (p.Pro399=)
11g.71435741G>TCA381702208DHCR7c.1062C>A (p.Ala354=)
c.888C>A (p.Ala296=)
c.1113C>A (p.Ala371=)
c.1098C>A (p.Ala366=)
c.1070C>A (p.Pro357Gln)
n.1102C>A
c.477C>A (p.Ala159=)
c.966C>A (p.Ala322=)
c.563C>A (p.Pro188Gln)
c.312C>A (p.Ala104=)
c.319+2071C>A
c.1196C>A (p.Pro399Gln)
11g.71435742G>ACA381702210DHCR7c.1061C>T (p.Ala354Val)
c.887C>T (p.Ala296Val)
c.1112C>T (p.Ala371Val)
c.1097C>T (p.Ala366Val)
c.1069C>T (p.Pro357Ser)
n.1101C>T
c.476C>T (p.Ala159Val)
c.965C>T (p.Ala322Val)
c.562C>T (p.Pro188Ser)
c.311C>T (p.Ala104Val)
c.319+2070C>T
c.1195C>T (p.Pro399Ser)
11g.71435742G>CCA381702213DHCR7c.1061C>G (p.Ala354Gly)
c.887C>G (p.Ala296Gly)
c.1112C>G (p.Ala371Gly)
c.1097C>G (p.Ala366Gly)
c.1069C>G (p.Pro357Ala)
n.1101C>G
c.476C>G (p.Ala159Gly)
c.965C>G (p.Ala322Gly)
c.562C>G (p.Pro188Ala)
c.311C>G (p.Ala104Gly)
c.319+2070C>G
c.1195C>G (p.Pro399Ala)
11g.71435742G>TCA381702212DHCR7c.1061C>A (p.Ala354Asp)
c.887C>A (p.Ala296Asp)
c.1112C>A (p.Ala371Asp)
c.1097C>A (p.Ala366Asp)
c.1069C>A (p.Pro357Thr)
n.1101C>A
c.476C>A (p.Ala159Asp)
c.965C>A (p.Ala322Asp)
c.562C>A (p.Pro188Thr)
c.311C>A (p.Ala104Asp)
c.319+2070C>A
c.1195C>A (p.Pro399Thr)
11g.71435743C>ACA381702214DHCR7c.1060G>T (p.Ala354Ser)
c.886G>T (p.Ala296Ser)
c.1111G>T (p.Ala371Ser)
c.1096G>T (p.Ala366Ser)
c.1068G>T (p.Trp356Cys)
n.1100G>T
c.475G>T (p.Ala159Ser)
c.964G>T (p.Ala322Ser)
c.561G>T (p.Trp187Cys)
c.310G>T (p.Ala104Ser)
c.319+2069G>T
c.1194G>T (p.Trp398Cys)
11g.71435743C=CA1981486998DHCR7c.1060G= (p.Ala354=)
c.886G= (p.Ala296=)
c.1111G= (p.Ala371=)
c.1096G= (p.Ala366=)
c.1068G= (p.Trp356=)
n.1100G=
c.475G= (p.Ala159=)
c.964G= (p.Ala322=)
c.561G= (p.Trp187=)
c.310G= (p.Ala104=)
c.319+2069G=
c.1194G= (p.Trp398=)
11g.71435743C>GCA381702215DHCR7c.1060G>C (p.Ala354Pro)
c.886G>C (p.Ala296Pro)
c.1111G>C (p.Ala371Pro)
c.1096G>C (p.Ala366Pro)
c.1068G>C (p.Trp356Cys)
n.1100G>C
c.475G>C (p.Ala159Pro)
c.964G>C (p.Ala322Pro)
c.561G>C (p.Trp187Cys)
c.310G>C (p.Ala104Pro)
c.319+2069G>C
c.1194G>C (p.Trp398Cys)
11g.71435743C>TCA224324519DHCR7c.1060G>A (p.Ala354Thr)
c.886G>A (p.Ala296Thr)
c.1111G>A (p.Ala371Thr)
c.1096G>A (p.Ala366Thr)
c.1068G>A (p.Trp356Ter)
n.1100G>A
c.475G>A (p.Ala159Thr)
c.964G>A (p.Ala322Thr)
c.561G>A (p.Trp187Ter)
c.310G>A (p.Ala104Thr)
c.319+2069G>A
c.1194G>A (p.Trp398Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435744C>ACA381702217DHCR7c.1059G>T (p.Val353=)
c.885G>T (p.Val295=)
c.1110G>T (p.Val370=)
c.1095G>T (p.Val365=)
c.1067G>T (p.Trp356Leu)
n.1099G>T
c.474G>T (p.Val158=)
c.963G>T (p.Val321=)
c.560G>T (p.Trp187Leu)
c.309G>T (p.Val103=)
c.319+2068G>T
c.1193G>T (p.Trp398Leu)
11g.71435744C=CA1981486999DHCR7c.1059G= (p.Val353=)
c.885G= (p.Val295=)
c.1110G= (p.Val370=)
c.1095G= (p.Val365=)
c.1067G= (p.Trp356=)
n.1099G=
c.474G= (p.Val158=)
c.963G= (p.Val321=)
c.560G= (p.Trp187=)
c.309G= (p.Val103=)
c.319+2068G=
c.1193G= (p.Trp398=)
11g.71435744C>GCA381702219DHCR7c.1059G>C (p.Val353=)
c.885G>C (p.Val295=)
c.1110G>C (p.Val370=)
c.1095G>C (p.Val365=)
c.1067G>C (p.Trp356Ser)
n.1099G>C
c.474G>C (p.Val158=)
c.963G>C (p.Val321=)
c.560G>C (p.Trp187Ser)
c.309G>C (p.Val103=)
c.319+2068G>C
c.1193G>C (p.Trp398Ser)
11g.71435744C>TCA6162325DHCR7c.1059G>A (p.Val353=)
c.885G>A (p.Val295=)
c.1110G>A (p.Val370=)
c.1095G>A (p.Val365=)
c.1067G>A (p.Trp356Ter)
n.1099G>A
c.474G>A (p.Val158=)
c.963G>A (p.Val321=)
c.560G>A (p.Trp187Ter)
c.309G>A (p.Val103=)
c.319+2068G>A
c.1193G>A (p.Trp398Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435745_71435746delCA912973035DHCR7c.1058_1059del (p.Val353GlyfsTer?)
c.884_885del (p.Val295GlyfsTer?)
c.1109_1110del (p.Val370GlyfsTer?)
c.1094_1095del (p.Val365GlyfsTer?)
c.1066_1067del (p.Trp356AlafsTer?)
n.1098_1099del
c.473_474del (p.Val158GlyfsTer?)
c.962_963del (p.Val321GlyfsTer?)
c.559_560del (p.Trp187AlafsTer?)
c.308_309del (p.Val103GlyfsTer?)
c.319+2067_319+2068del
c.1192_1193del (p.Trp398AlafsTer?)
11g.71435745A>CCA381702221DHCR7c.1058T>G (p.Val353Gly)
c.884T>G (p.Val295Gly)
c.1109T>G (p.Val370Gly)
c.1094T>G (p.Val365Gly)
c.1066T>G (p.Trp356Gly)
n.1098T>G
c.473T>G (p.Val158Gly)
c.962T>G (p.Val321Gly)
c.559T>G (p.Trp187Gly)
c.308T>G (p.Val103Gly)
c.319+2067T>G
c.1192T>G (p.Trp398Gly)
11g.71435745A>GCA381702222DHCR7c.1058T>C (p.Val353Ala)
c.884T>C (p.Val295Ala)
c.1109T>C (p.Val370Ala)
c.1094T>C (p.Val365Ala)
c.1066T>C (p.Trp356Arg)
n.1098T>C
c.473T>C (p.Val158Ala)
c.962T>C (p.Val321Ala)
c.559T>C (p.Trp187Arg)
c.308T>C (p.Val103Ala)
c.319+2067T>C
c.1192T>C (p.Trp398Arg)
11g.71435745A>TCA381702223DHCR7c.1058T>A (p.Val353Glu)
c.884T>A (p.Val295Glu)
c.1109T>A (p.Val370Glu)
c.1094T>A (p.Val365Glu)
c.1066T>A (p.Trp356Arg)
n.1098T>A
c.473T>A (p.Val158Glu)
c.962T>A (p.Val321Glu)
c.559T>A (p.Trp187Arg)
c.308T>A (p.Val103Glu)
c.319+2067T>A
c.1192T>A (p.Trp398Arg)
11g.71435745_71435746delinsACCA1981487000DHCR7c.1057_1058delinsGT (p.Val353=)
c.883_884delinsGT (p.Val295=)
c.1108_1109delinsGT (p.Val370=)
c.1093_1094delinsGT (p.Val365=)
c.1065_1066delinsGT (p.Gly355=)
n.1097_1098delinsGT
c.472_473delinsGT (p.Val158=)
c.961_962delinsGT (p.Val321=)
c.558_559delinsGT (p.Gly186=)
c.307_308delinsGT (p.Val103=)
c.319+2066_319+2067delinsGT
c.1191_1192delinsGT (p.Gly397=)
11g.71435746C>ACA381702229DHCR7c.1057G>T (p.Val353Leu)
c.883G>T (p.Val295Leu)
c.1108G>T (p.Val370Leu)
c.1093G>T (p.Val365Leu)
c.1065G>T (p.Gly355=)
n.1097G>T
c.472G>T (p.Val158Leu)
c.961G>T (p.Val321Leu)
c.558G>T (p.Gly186=)
c.307G>T (p.Val103Leu)
c.319+2066G>T
c.1191G>T (p.Gly397=)
11g.71435746C=CA1981487001DHCR7c.1057G= (p.Val353=)
c.883G= (p.Val295=)
c.1108G= (p.Val370=)
c.1093G= (p.Val365=)
c.1065G= (p.Gly355=)
n.1097G=
c.472G= (p.Val158=)
c.961G= (p.Val321=)
c.558G= (p.Gly186=)
c.307G= (p.Val103=)
c.319+2066G=
c.1191G= (p.Gly397=)
11g.71435746C>GCA381702227DHCR7c.1057G>C (p.Val353Leu)
c.883G>C (p.Val295Leu)
c.1108G>C (p.Val370Leu)
c.1093G>C (p.Val365Leu)
c.1065G>C (p.Gly355=)
n.1097G>C
c.472G>C (p.Val158Leu)
c.961G>C (p.Val321Leu)
c.558G>C (p.Gly186=)
c.307G>C (p.Val103Leu)
c.319+2066G>C
c.1191G>C (p.Gly397=)
11g.71435746C>TCA381702230DHCR7c.1057G>A (p.Val353Met)
c.883G>A (p.Val295Met)
c.1108G>A (p.Val370Met)
c.1093G>A (p.Val365Met)
c.1065G>A (p.Gly355=)
n.1097G>A
c.472G>A (p.Val158Met)
c.961G>A (p.Val321Met)
c.558G>A (p.Gly186=)
c.307G>A (p.Val103Met)
c.319+2066G>A
c.1191G>A (p.Gly397=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435748delCA6162326DHCR7c.1057del (p.Val353TrpfsTer?)
c.883del (p.Val295TrpfsTer?)
c.1108del (p.Val370TrpfsTer?)
c.1093del (p.Val365TrpfsTer?)
c.1065del (p.Trp356GlyfsTer?)
n.1097del
c.472del (p.Val158TrpfsTer?)
c.961del (p.Val321TrpfsTer?)
c.558del (p.Trp187GlyfsTer?)
c.307del (p.Val103TrpfsTer?)
c.319+2066del
c.1191del (p.Trp398GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435747C>ACA381702232DHCR7c.1056G>T (p.Arg352=)
c.882G>T (p.Arg294=)
c.1107G>T (p.Arg369=)
c.1092G>T (p.Arg364=)
c.1064G>T (p.Gly355Val)
n.1096G>T
c.471G>T (p.Arg157=)
c.960G>T (p.Arg320=)
c.557G>T (p.Gly186Val)
c.306G>T (p.Arg102=)
c.319+2065G>T
c.1190G>T (p.Gly397Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435747C=CA1981487002DHCR7c.1056G= (p.Arg352=)
c.882G= (p.Arg294=)
c.1107G= (p.Arg369=)
c.1092G= (p.Arg364=)
c.1064G= (p.Gly355=)
n.1096G=
c.471G= (p.Arg157=)
c.960G= (p.Arg320=)
c.557G= (p.Gly186=)
c.306G= (p.Arg102=)
c.319+2065G=
c.1190G= (p.Gly397=)
11g.71435747C>GCA381702234DHCR7c.1056G>C (p.Arg352=)
c.882G>C (p.Arg294=)
c.1107G>C (p.Arg369=)
c.1092G>C (p.Arg364=)
c.1064G>C (p.Gly355Ala)
n.1096G>C
c.471G>C (p.Arg157=)
c.960G>C (p.Arg320=)
c.557G>C (p.Gly186Ala)
c.306G>C (p.Arg102=)
c.319+2065G>C
c.1190G>C (p.Gly397Ala)
11g.71435747C>TCA381702237DHCR7c.1056G>A (p.Arg352=)
c.882G>A (p.Arg294=)
c.1107G>A (p.Arg369=)
c.1092G>A (p.Arg364=)
c.1064G>A (p.Gly355Glu)
n.1096G>A
c.471G>A (p.Arg157=)
c.960G>A (p.Arg320=)
c.557G>A (p.Gly186Glu)
c.306G>A (p.Arg102=)
c.319+2065G>A
c.1190G>A (p.Gly397Glu)
 ClinVar dbSNP gnomAD v4
11g.71435748C>ACA6162327DHCR7c.1055G>T (p.Arg352Leu)
c.881G>T (p.Arg294Leu)
c.1106G>T (p.Arg369Leu)
c.1091G>T (p.Arg364Leu)
c.1063G>T (p.Gly355Trp)
n.1095G>T
c.470G>T (p.Arg157Leu)
c.959G>T (p.Arg320Leu)
c.556G>T (p.Gly186Trp)
c.305G>T (p.Arg102Leu)
c.319+2064G>T
c.1189G>T (p.Gly397Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435748C=CA1981487003DHCR7c.1055G= (p.Arg352=)
c.881G= (p.Arg294=)
c.1106G= (p.Arg369=)
c.1091G= (p.Arg364=)
c.1063G= (p.Gly355=)
n.1095G=
c.470G= (p.Arg157=)
c.959G= (p.Arg320=)
c.556G= (p.Gly186=)
c.305G= (p.Arg102=)
c.319+2064G=
c.1189G= (p.Gly397=)
11g.71435748C>GCA381702240DHCR7c.1055G>C (p.Arg352Pro)
c.881G>C (p.Arg294Pro)
c.1106G>C (p.Arg369Pro)
c.1091G>C (p.Arg364Pro)
c.1063G>C (p.Gly355Arg)
n.1095G>C
c.470G>C (p.Arg157Pro)
c.959G>C (p.Arg320Pro)
c.556G>C (p.Gly186Arg)
c.305G>C (p.Arg102Pro)
c.319+2064G>C
c.1189G>C (p.Gly397Arg)
11g.71435748C>TCA253952DHCR7c.1055G>A (p.Arg352Gln)
c.881G>A (p.Arg294Gln)
c.1106G>A (p.Arg369Gln)
c.1091G>A (p.Arg364Gln)
c.1063G>A (p.Gly355Arg)
n.1095G>A
c.470G>A (p.Arg157Gln)
c.959G>A (p.Arg320Gln)
c.556G>A (p.Gly186Arg)
c.305G>A (p.Arg102Gln)
c.319+2064G>A
c.1189G>A (p.Gly397Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435749G>ACA340612DHCR7c.1054C>T (p.Arg352Trp)
c.880C>T (p.Arg294Trp)
c.1105C>T (p.Arg369Trp)
c.1090C>T (p.Arg364Trp)
c.1062C>T (p.Ser354=)
n.1094C>T
c.469C>T (p.Arg157Trp)
c.958C>T (p.Arg320Trp)
c.555C>T (p.Ser185=)
c.304C>T (p.Arg102Trp)
c.319+2063C>T
c.1188C>T (p.Ser396=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435749G>CCA381702242DHCR7c.1054C>G (p.Arg352Gly)
c.880C>G (p.Arg294Gly)
c.1105C>G (p.Arg369Gly)
c.1090C>G (p.Arg364Gly)
c.1062C>G (p.Ser354=)
n.1094C>G
c.469C>G (p.Arg157Gly)
c.958C>G (p.Arg320Gly)
c.555C>G (p.Ser185=)
c.304C>G (p.Arg102Gly)
c.319+2063C>G
c.1188C>G (p.Ser396=)
 COSMIC COSMIC
11g.71435749G=CA1981487004DHCR7c.1054C= (p.Arg352=)
c.880C= (p.Arg294=)
c.1105C= (p.Arg369=)
c.1090C= (p.Arg364=)
c.1062C= (p.Ser354=)
n.1094C=
c.469C= (p.Arg157=)
c.958C= (p.Arg320=)
c.555C= (p.Ser185=)
c.304C= (p.Arg102=)
c.319+2063C=
c.1188C= (p.Ser396=)
11g.71435749G>TCA475861132DHCR7c.1054C>A (p.Arg352=)
c.880C>A (p.Arg294=)
c.1105C>A (p.Arg369=)
c.1090C>A (p.Arg364=)
c.1062C>A (p.Ser354=)
n.1094C>A
c.469C>A (p.Arg157=)
c.958C>A (p.Arg320=)
c.555C>A (p.Ser185=)
c.304C>A (p.Arg102=)
c.319+2063C>A
c.1188C>A (p.Ser396=)
 gnomAD v4 COSMIC COSMIC
11g.71435750G>ACA381702243DHCR7c.1053C>T (p.Phe351=)
c.879C>T (p.Phe293=)
c.1104C>T (p.Phe368=)
c.1089C>T (p.Phe363=)
c.1061C>T (p.Ser354Phe)
n.1093C>T
c.468C>T (p.Phe156=)
c.957C>T (p.Phe319=)
c.554C>T (p.Ser185Phe)
c.303C>T (p.Phe101=)
c.319+2062C>T
c.1187C>T (p.Ser396Phe)
 gnomAD v4
11g.71435750G>CCA381702245DHCR7c.1053C>G (p.Phe351Leu)
c.879C>G (p.Phe293Leu)
c.1104C>G (p.Phe368Leu)
c.1089C>G (p.Phe363Leu)
c.1061C>G (p.Ser354Cys)
n.1093C>G
c.468C>G (p.Phe156Leu)
c.957C>G (p.Phe319Leu)
c.554C>G (p.Ser185Cys)
c.303C>G (p.Phe101Leu)
c.319+2062C>G
c.1187C>G (p.Ser396Cys)
 gnomAD v4
11g.71435750G=CA1981487005DHCR7c.1053C= (p.Phe351=)
c.879C= (p.Phe293=)
c.1104C= (p.Phe368=)
c.1089C= (p.Phe363=)
c.1061C= (p.Ser354=)
n.1093C=
c.468C= (p.Phe156=)
c.957C= (p.Phe319=)
c.554C= (p.Ser185=)
c.303C= (p.Phe101=)
c.319+2062C=
c.1187C= (p.Ser396=)
11g.71435750G>TCA224324601DHCR7c.1053C>A (p.Phe351Leu)
c.879C>A (p.Phe293Leu)
c.1104C>A (p.Phe368Leu)
c.1089C>A (p.Phe363Leu)
c.1061C>A (p.Ser354Tyr)
n.1093C>A
c.468C>A (p.Phe156Leu)
c.957C>A (p.Phe319Leu)
c.554C>A (p.Ser185Tyr)
c.303C>A (p.Phe101Leu)
c.319+2062C>A
c.1187C>A (p.Ser396Tyr)
 dbSNP
11g.71435751A=CA1981487006DHCR7c.1052T= (p.Phe351=)
c.878T= (p.Phe293=)
c.1103T= (p.Phe368=)
c.1088T= (p.Phe363=)
c.1060T= (p.Ser354=)
n.1092T=
c.467T= (p.Phe156=)
c.956T= (p.Phe319=)
c.553T= (p.Ser185=)
c.302T= (p.Phe101=)
c.319+2061T=
c.1186T= (p.Ser396=)
11g.71435751A>CCA381702248DHCR7c.1052T>G (p.Phe351Cys)
c.878T>G (p.Phe293Cys)
c.1103T>G (p.Phe368Cys)
c.1088T>G (p.Phe363Cys)
c.1060T>G (p.Ser354Ala)
n.1092T>G
c.467T>G (p.Phe156Cys)
c.956T>G (p.Phe319Cys)
c.553T>G (p.Ser185Ala)
c.302T>G (p.Phe101Cys)
c.319+2061T>G
c.1186T>G (p.Ser396Ala)
11g.71435751A>GCA224324603DHCR7c.1052T>C (p.Phe351Ser)
c.878T>C (p.Phe293Ser)
c.1103T>C (p.Phe368Ser)
c.1088T>C (p.Phe363Ser)
c.1060T>C (p.Ser354Pro)
n.1092T>C
c.467T>C (p.Phe156Ser)
c.956T>C (p.Phe319Ser)
c.553T>C (p.Ser185Pro)
c.302T>C (p.Phe101Ser)
c.319+2061T>C
c.1186T>C (p.Ser396Pro)
 dbSNP
11g.71435751A>TCA381702247DHCR7c.1052T>A (p.Phe351Tyr)
c.878T>A (p.Phe293Tyr)
c.1103T>A (p.Phe368Tyr)
c.1088T>A (p.Phe363Tyr)
c.1060T>A (p.Ser354Thr)
n.1092T>A
c.467T>A (p.Phe156Tyr)
c.956T>A (p.Phe319Tyr)
c.553T>A (p.Ser185Thr)
c.302T>A (p.Phe101Tyr)
c.319+2061T>A
c.1186T>A (p.Ser396Thr)
11g.71435752A>CCA381702250DHCR7c.1051T>G (p.Phe351Val)
c.877T>G (p.Phe293Val)
c.1102T>G (p.Phe368Val)
c.1087T>G (p.Phe363Val)
c.1059T>G (p.Ser353=)
n.1091T>G
c.466T>G (p.Phe156Val)
c.955T>G (p.Phe319Val)
c.552T>G (p.Ser184=)
c.301T>G (p.Phe101Val)
c.319+2060T>G
c.1185T>G (p.Ser395=)
11g.71435752A>GCA381702251DHCR7c.1051T>C (p.Phe351Leu)
c.877T>C (p.Phe293Leu)
c.1102T>C (p.Phe368Leu)
c.1087T>C (p.Phe363Leu)
c.1059T>C (p.Ser353=)
n.1091T>C
c.466T>C (p.Phe156Leu)
c.955T>C (p.Phe319Leu)
c.552T>C (p.Ser184=)
c.301T>C (p.Phe101Leu)
c.319+2060T>C
c.1185T>C (p.Ser395=)
11g.71435752A>TCA381702253DHCR7c.1051T>A (p.Phe351Ile)
c.877T>A (p.Phe293Ile)
c.1102T>A (p.Phe368Ile)
c.1087T>A (p.Phe363Ile)
c.1059T>A (p.Ser353=)
n.1091T>A
c.466T>A (p.Phe156Ile)
c.955T>A (p.Phe319Ile)
c.552T>A (p.Ser184=)
c.301T>A (p.Phe101Ile)
c.319+2060T>A
c.1185T>A (p.Ser395=)
11g.71435753G>ACA381702255DHCR7c.1050C>T (p.Ile350=)
c.876C>T (p.Ile292=)
c.1101C>T (p.Ile367=)
c.1086C>T (p.Ile362=)
c.1058C>T (p.Ser353Phe)
n.1090C>T
c.465C>T (p.Ile155=)
c.954C>T (p.Ile318=)
c.551C>T (p.Ser184Phe)
c.300C>T (p.Ile100=)
c.319+2059C>T
c.1184C>T (p.Ser395Phe)
 ClinVar
11g.71435753G>CCA381702256DHCR7c.1050C>G (p.Ile350Met)
c.876C>G (p.Ile292Met)
c.1101C>G (p.Ile367Met)
c.1086C>G (p.Ile362Met)
c.1058C>G (p.Ser353Cys)
n.1090C>G
c.465C>G (p.Ile155Met)
c.954C>G (p.Ile318Met)
c.551C>G (p.Ser184Cys)
c.300C>G (p.Ile100Met)
c.319+2059C>G
c.1184C>G (p.Ser395Cys)
11g.71435753G>TCA381702257DHCR7c.1050C>A (p.Ile350=)
c.876C>A (p.Ile292=)
c.1101C>A (p.Ile367=)
c.1086C>A (p.Ile362=)
c.1058C>A (p.Ser353Tyr)
n.1090C>A
c.465C>A (p.Ile155=)
c.954C>A (p.Ile318=)
c.551C>A (p.Ser184Tyr)
c.300C>A (p.Ile100=)
c.319+2059C>A
c.1184C>A (p.Ser395Tyr)
11g.71435754A>CCA381702259DHCR7c.1049T>G (p.Ile350Ser)
c.875T>G (p.Ile292Ser)
c.1100T>G (p.Ile367Ser)
c.1085T>G (p.Ile362Ser)
c.1057T>G (p.Ser353Ala)
n.1089T>G
c.464T>G (p.Ile155Ser)
c.953T>G (p.Ile318Ser)
c.550T>G (p.Ser184Ala)
c.299T>G (p.Ile100Ser)
c.319+2058T>G
c.1183T>G (p.Ser395Ala)
11g.71435754A>GCA381702260DHCR7c.1049T>C (p.Ile350Thr)
c.875T>C (p.Ile292Thr)
c.1100T>C (p.Ile367Thr)
c.1085T>C (p.Ile362Thr)
c.1057T>C (p.Ser353Pro)
n.1089T>C
c.464T>C (p.Ile155Thr)
c.953T>C (p.Ile318Thr)
c.550T>C (p.Ser184Pro)
c.299T>C (p.Ile100Thr)
c.319+2058T>C
c.1183T>C (p.Ser395Pro)
11g.71435754A>TCA381702262DHCR7c.1049T>A (p.Ile350Asn)
c.875T>A (p.Ile292Asn)
c.1100T>A (p.Ile367Asn)
c.1085T>A (p.Ile362Asn)
c.1057T>A (p.Ser353Thr)
n.1089T>A
c.464T>A (p.Ile155Asn)
c.953T>A (p.Ile318Asn)
c.550T>A (p.Ser184Thr)
c.299T>A (p.Ile100Asn)
c.319+2058T>A
c.1183T>A (p.Ser395Thr)
11g.71435755T>ACA381702263DHCR7c.1048A>T (p.Ile350Phe)
c.874A>T (p.Ile292Phe)
c.1099A>T (p.Ile367Phe)
c.1084A>T (p.Ile362Phe)
c.1056A>T (p.Thr352=)
n.1088A>T
c.463A>T (p.Ile155Phe)
c.952A>T (p.Ile318Phe)
c.549A>T (p.Thr183=)
c.298A>T (p.Ile100Phe)
c.319+2057A>T
c.1182A>T (p.Thr394=)
11g.71435755T>CCA381702264DHCR7c.1048A>G (p.Ile350Val)
c.874A>G (p.Ile292Val)
c.1099A>G (p.Ile367Val)
c.1084A>G (p.Ile362Val)
c.1056A>G (p.Thr352=)
n.1088A>G
c.463A>G (p.Ile155Val)
c.952A>G (p.Ile318Val)
c.549A>G (p.Thr183=)
c.298A>G (p.Ile100Val)
c.319+2057A>G
c.1182A>G (p.Thr394=)
 ClinVar dbSNP
11g.71435755T>GCA381702266DHCR7c.1048A>C (p.Ile350Leu)
c.874A>C (p.Ile292Leu)
c.1099A>C (p.Ile367Leu)
c.1084A>C (p.Ile362Leu)
c.1056A>C (p.Thr352=)
n.1088A>C
c.463A>C (p.Ile155Leu)
c.952A>C (p.Ile318Leu)
c.549A>C (p.Thr183=)
c.298A>C (p.Ile100Leu)
c.319+2057A>C
c.1182A>C (p.Thr394=)
11g.71435755T=CA1981487007DHCR7c.1048A= (p.Ile350=)
c.874A= (p.Ile292=)
c.1099A= (p.Ile367=)
c.1084A= (p.Ile362=)
c.1056A= (p.Thr352=)
n.1088A=
c.463A= (p.Ile155=)
c.952A= (p.Ile318=)
c.549A= (p.Thr183=)
c.298A= (p.Ile100=)
c.319+2057A=
c.1182A= (p.Thr394=)
11g.71435755_71435758delinsTGTACA1981487008DHCR7c.1045_1048delinsTACA (p.Tyr349=)
c.871_874delinsTACA (p.Tyr291=)
c.1096_1099delinsTACA (p.Tyr366=)
c.1081_1084delinsTACA (p.Tyr361=)
c.1053_1056delinsTACA (p.Thr351=)
n.1085_1088delinsTACA
c.460_463delinsTACA (p.Tyr154=)
c.949_952delinsTACA (p.Tyr317=)
c.546_549delinsTACA (p.Thr182=)
c.295_298delinsTACA (p.Tyr99=)
c.319+2054_319+2057delinsTACA
c.1179_1182delinsTACA (p.Thr393=)
11g.71435756G>ACA381702271DHCR7c.1047C>T (p.Tyr349=)
c.873C>T (p.Tyr291=)
c.1098C>T (p.Tyr366=)
c.1083C>T (p.Tyr361=)
c.1055C>T (p.Thr352Ile)
n.1087C>T
c.462C>T (p.Tyr154=)
c.951C>T (p.Tyr317=)
c.548C>T (p.Thr183Ile)
c.297C>T (p.Tyr99=)
c.319+2056C>T
c.1181C>T (p.Thr394Ile)
 ClinVar gnomAD v4
11g.71435756G>CCA381702270DHCR7c.1047C>G (p.Tyr349Ter)
c.873C>G (p.Tyr291Ter)
c.1098C>G (p.Tyr366Ter)
c.1083C>G (p.Tyr361Ter)
c.1055C>G (p.Thr352Arg)
n.1087C>G
c.462C>G (p.Tyr154Ter)
c.951C>G (p.Tyr317Ter)
c.548C>G (p.Thr183Arg)
c.297C>G (p.Tyr99Ter)
c.319+2056C>G
c.1181C>G (p.Thr394Arg)
11g.71435756G>TCA381702268DHCR7c.1047C>A (p.Tyr349Ter)
c.873C>A (p.Tyr291Ter)
c.1098C>A (p.Tyr366Ter)
c.1083C>A (p.Tyr361Ter)
c.1055C>A (p.Thr352Lys)
n.1087C>A
c.462C>A (p.Tyr154Ter)
c.951C>A (p.Tyr317Ter)
c.548C>A (p.Thr183Lys)
c.297C>A (p.Tyr99Ter)
c.319+2056C>A
c.1181C>A (p.Thr394Lys)
11g.71435760_71435762delCA939372181DHCR7c.1045_1047del (p.Tyr349del)
c.871_873del (p.Tyr291del)
c.1096_1098del (p.Tyr366del)
c.1081_1083del (p.Tyr361del)
c.1053_1055del (p.Thr352del)
n.1085_1087del
c.460_462del (p.Tyr154del)
c.949_951del (p.Tyr317del)
c.546_548del (p.Thr183del)
c.295_297del (p.Tyr99del)
c.319+2054_319+2056del
c.1179_1181del (p.Thr394del)
 dbSNP gnomAD v3 gnomAD v4
11g.71435757T>ACA381702273DHCR7c.1046A>T (p.Tyr349Phe)
c.872A>T (p.Tyr291Phe)
c.1097A>T (p.Tyr366Phe)
c.1082A>T (p.Tyr361Phe)
c.1054A>T (p.Thr352Ser)
n.1086A>T
c.461A>T (p.Tyr154Phe)
c.950A>T (p.Tyr317Phe)
c.547A>T (p.Thr183Ser)
c.296A>T (p.Tyr99Phe)
c.319+2055A>T
c.1180A>T (p.Thr394Ser)
11g.71435757T>CCA381702276DHCR7c.1046A>G (p.Tyr349Cys)
c.872A>G (p.Tyr291Cys)
c.1097A>G (p.Tyr366Cys)
c.1082A>G (p.Tyr361Cys)
c.1054A>G (p.Thr352Ala)
n.1086A>G
c.461A>G (p.Tyr154Cys)
c.950A>G (p.Tyr317Cys)
c.547A>G (p.Thr183Ala)
c.296A>G (p.Tyr99Cys)
c.319+2055A>G
c.1180A>G (p.Thr394Ala)
11g.71435757T>GCA381702275DHCR7c.1046A>C (p.Tyr349Ser)
c.872A>C (p.Tyr291Ser)
c.1097A>C (p.Tyr366Ser)
c.1082A>C (p.Tyr361Ser)
c.1054A>C (p.Thr352Pro)
n.1086A>C
c.461A>C (p.Tyr154Ser)
c.950A>C (p.Tyr317Ser)
c.547A>C (p.Thr183Pro)
c.296A>C (p.Tyr99Ser)
c.319+2055A>C
c.1180A>C (p.Thr394Pro)
11g.71435757dupCA2614857284DHCR7c.1046dup (p.Tyr349Ter)
c.872dup (p.Tyr291Ter)
c.1097dup (p.Tyr366Ter)
c.1082dup (p.Tyr361Ter)
c.1054dup (p.Thr352AsnfsTer?)
n.1086dup
c.461dup (p.Tyr154Ter)
c.950dup (p.Tyr317Ter)
c.547dup (p.Thr183AsnfsTer?)
c.296dup (p.Tyr99Ter)
c.319+2055dup
c.1180dup (p.Thr394AsnfsTer?)
 gnomAD v4
11g.71435758A>CCA381702278DHCR7c.1045T>G (p.Tyr349Asp)
c.871T>G (p.Tyr291Asp)
c.1096T>G (p.Tyr366Asp)
c.1081T>G (p.Tyr361Asp)
c.1053T>G (p.Thr351=)
n.1085T>G
c.460T>G (p.Tyr154Asp)
c.949T>G (p.Tyr317Asp)
c.546T>G (p.Thr182=)
c.295T>G (p.Tyr99Asp)
c.319+2054T>G
c.1179T>G (p.Thr393=)
11g.71435758A>GCA381702280DHCR7c.1045T>C (p.Tyr349His)
c.871T>C (p.Tyr291His)
c.1096T>C (p.Tyr366His)
c.1081T>C (p.Tyr361His)
c.1053T>C (p.Thr351=)
n.1085T>C
c.460T>C (p.Tyr154His)
c.949T>C (p.Tyr317His)
c.546T>C (p.Thr182=)
c.295T>C (p.Tyr99His)
c.319+2054T>C
c.1179T>C (p.Thr393=)
11g.71435758A>TCA381702281DHCR7c.1045T>A (p.Tyr349Asn)
c.871T>A (p.Tyr291Asn)
c.1096T>A (p.Tyr366Asn)
c.1081T>A (p.Tyr361Asn)
c.1053T>A (p.Thr351=)
n.1085T>A
c.460T>A (p.Tyr154Asn)
c.949T>A (p.Tyr317Asn)
c.546T>A (p.Thr182=)
c.295T>A (p.Tyr99Asn)
c.319+2054T>A
c.1179T>A (p.Thr393=)
11g.71435759G>ACA381702283DHCR7c.1044C>T (p.Tyr348=)
c.870C>T (p.Tyr290=)
c.1095C>T (p.Tyr365=)
c.1080C>T (p.Tyr360=)
c.1052C>T (p.Thr351Ile)
n.1084C>T
c.459C>T (p.Tyr153=)
c.948C>T (p.Tyr316=)
c.545C>T (p.Thr182Ile)
c.294C>T (p.Tyr98=)
c.319+2053C>T
c.1178C>T (p.Thr393Ile)
 gnomAD v4
11g.71435759G>CCA381702284DHCR7c.1044C>G (p.Tyr348Ter)
c.870C>G (p.Tyr290Ter)
c.1095C>G (p.Tyr365Ter)
c.1080C>G (p.Tyr360Ter)
c.1052C>G (p.Thr351Ser)
n.1084C>G
c.459C>G (p.Tyr153Ter)
c.948C>G (p.Tyr316Ter)
c.545C>G (p.Thr182Ser)
c.294C>G (p.Tyr98Ter)
c.319+2053C>G
c.1178C>G (p.Thr393Ser)
11g.71435759G>TCA381702286DHCR7c.1044C>A (p.Tyr348Ter)
c.870C>A (p.Tyr290Ter)
c.1095C>A (p.Tyr365Ter)
c.1080C>A (p.Tyr360Ter)
c.1052C>A (p.Thr351Asn)
n.1084C>A
c.459C>A (p.Tyr153Ter)
c.948C>A (p.Tyr316Ter)
c.545C>A (p.Thr182Asn)
c.294C>A (p.Tyr98Ter)
c.319+2053C>A
c.1178C>A (p.Thr393Asn)
11g.71435760T>ACA381702288DHCR7c.1043A>T (p.Tyr348Phe)
c.869A>T (p.Tyr290Phe)
c.1094A>T (p.Tyr365Phe)
c.1079A>T (p.Tyr360Phe)
c.1051A>T (p.Thr351Ser)
n.1083A>T
c.458A>T (p.Tyr153Phe)
c.947A>T (p.Tyr316Phe)
c.544A>T (p.Thr182Ser)
c.293A>T (p.Tyr98Phe)
c.319+2052A>T
c.1177A>T (p.Thr393Ser)
11g.71435760T>CCA381702289DHCR7c.1043A>G (p.Tyr348Cys)
c.869A>G (p.Tyr290Cys)
c.1094A>G (p.Tyr365Cys)
c.1079A>G (p.Tyr360Cys)
c.1051A>G (p.Thr351Ala)
n.1083A>G
c.458A>G (p.Tyr153Cys)
c.947A>G (p.Tyr316Cys)
c.544A>G (p.Thr182Ala)
c.293A>G (p.Tyr98Cys)
c.319+2052A>G
c.1177A>G (p.Thr393Ala)
 dbSNP gnomAD v4
11g.71435760T>GCA381702292DHCR7c.1043A>C (p.Tyr348Ser)
c.869A>C (p.Tyr290Ser)
c.1094A>C (p.Tyr365Ser)
c.1079A>C (p.Tyr360Ser)
c.1051A>C (p.Thr351Pro)
n.1083A>C
c.458A>C (p.Tyr153Ser)
c.947A>C (p.Tyr316Ser)
c.544A>C (p.Thr182Pro)
c.293A>C (p.Tyr98Ser)
c.319+2052A>C
c.1177A>C (p.Thr393Pro)
11g.71435760T=CA1981487009DHCR7c.1043A= (p.Tyr348=)
c.869A= (p.Tyr290=)
c.1094A= (p.Tyr365=)
c.1079A= (p.Tyr360=)
c.1051A= (p.Thr351=)
n.1083A=
c.458A= (p.Tyr153=)
c.947A= (p.Tyr316=)
c.544A= (p.Thr182=)
c.293A= (p.Tyr98=)
c.319+2052A=
c.1177A= (p.Thr393=)
11g.71435761A>CCA381702297DHCR7c.1042T>G (p.Tyr348Asp)
c.868T>G (p.Tyr290Asp)
c.1093T>G (p.Tyr365Asp)
c.1078T>G (p.Tyr360Asp)
c.1050T>G (p.Ala350=)
n.1082T>G
c.457T>G (p.Tyr153Asp)
c.946T>G (p.Tyr316Asp)
c.543T>G (p.Ala181=)
c.292T>G (p.Tyr98Asp)
c.319+2051T>G
c.1176T>G (p.Ala392=)
11g.71435761A>GCA381702296DHCR7c.1042T>C (p.Tyr348His)
c.868T>C (p.Tyr290His)
c.1093T>C (p.Tyr365His)
c.1078T>C (p.Tyr360His)
c.1050T>C (p.Ala350=)
n.1082T>C
c.457T>C (p.Tyr153His)
c.946T>C (p.Tyr316His)
c.543T>C (p.Ala181=)
c.292T>C (p.Tyr98His)
c.319+2051T>C
c.1176T>C (p.Ala392=)
11g.71435761A>TCA381702295DHCR7c.1042T>A (p.Tyr348Asn)
c.868T>A (p.Tyr290Asn)
c.1093T>A (p.Tyr365Asn)
c.1078T>A (p.Tyr360Asn)
c.1050T>A (p.Ala350=)
n.1082T>A
c.457T>A (p.Tyr153Asn)
c.946T>A (p.Tyr316Asn)
c.543T>A (p.Ala181=)
c.292T>A (p.Tyr98Asn)
c.319+2051T>A
c.1176T>A (p.Ala392=)
11g.71435761_71435770dupCA6162328DHCR7c.1033_1042dup (p.Tyr348SerfsTer?)
c.859_868dup (p.Tyr290SerfsTer?)
c.1084_1093dup (p.Tyr365SerfsTer?)
c.1069_1078dup (p.Tyr360SerfsTer?)
c.1041_1050dup (p.Thr351LeufsTer?)
n.1073_1082dup
c.448_457dup (p.Tyr153SerfsTer?)
c.937_946dup (p.Tyr316SerfsTer?)
c.534_543dup (p.Thr182LeufsTer?)
c.283_292dup (p.Tyr98SerfsTer?)
c.319+2042_319+2051dup
c.1167_1176dup (p.Thr393LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435762G>ACA381702299DHCR7c.1041C>T (p.Gly347=)
c.867C>T (p.Gly289=)
c.1092C>T (p.Gly364=)
c.1077C>T (p.Gly359=)
c.1049C>T (p.Ala350Val)
n.1081C>T
c.456C>T (p.Gly152=)
c.945C>T (p.Gly315=)
c.542C>T (p.Ala181Val)
c.291C>T (p.Gly97=)
c.319+2050C>T
c.1175C>T (p.Ala392Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435762G>CCA381702300DHCR7c.1041C>G (p.Gly347=)
c.867C>G (p.Gly289=)
c.1092C>G (p.Gly364=)
c.1077C>G (p.Gly359=)
c.1049C>G (p.Ala350Gly)
n.1081C>G
c.456C>G (p.Gly152=)
c.945C>G (p.Gly315=)
c.542C>G (p.Ala181Gly)
c.291C>G (p.Gly97=)
c.319+2050C>G
c.1175C>G (p.Ala392Gly)
11g.71435762G=CA1981487010DHCR7c.1041C= (p.Gly347=)
c.867C= (p.Gly289=)
c.1092C= (p.Gly364=)
c.1077C= (p.Gly359=)
c.1049C= (p.Ala350=)
n.1081C=
c.456C= (p.Gly152=)
c.945C= (p.Gly315=)
c.542C= (p.Ala181=)
c.291C= (p.Gly97=)
c.319+2050C=
c.1175C= (p.Ala392=)
11g.71435762G>TCA381702302DHCR7c.1041C>A (p.Gly347=)
c.867C>A (p.Gly289=)
c.1092C>A (p.Gly364=)
c.1077C>A (p.Gly359=)
c.1049C>A (p.Ala350Asp)
n.1081C>A
c.456C>A (p.Gly152=)
c.945C>A (p.Gly315=)
c.542C>A (p.Ala181Asp)
c.291C>A (p.Gly97=)
c.319+2050C>A
c.1175C>A (p.Ala392Asp)
11g.71435763C>ACA6162329DHCR7c.1040G>T (p.Gly347Val)
c.866G>T (p.Gly289Val)
c.1091G>T (p.Gly364Val)
c.1076G>T (p.Gly359Val)
c.1048G>T (p.Ala350Ser)
n.1080G>T
c.455G>T (p.Gly152Val)
c.944G>T (p.Gly315Val)
c.541G>T (p.Ala181Ser)
c.290G>T (p.Gly97Val)
c.319+2049G>T
c.1174G>T (p.Ala392Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435763C=CA1981487011DHCR7c.1040G= (p.Gly347=)
c.866G= (p.Gly289=)
c.1091G= (p.Gly364=)
c.1076G= (p.Gly359=)
c.1048G= (p.Ala350=)
n.1080G=
c.455G= (p.Gly152=)
c.944G= (p.Gly315=)
c.541G= (p.Ala181=)
c.290G= (p.Gly97=)
c.319+2049G=
c.1174G= (p.Ala392=)
11g.71435763C>GCA381702304DHCR7c.1040G>C (p.Gly347Ala)
c.866G>C (p.Gly289Ala)
c.1091G>C (p.Gly364Ala)
c.1076G>C (p.Gly359Ala)
c.1048G>C (p.Ala350Pro)
n.1080G>C
c.455G>C (p.Gly152Ala)
c.944G>C (p.Gly315Ala)
c.541G>C (p.Ala181Pro)
c.290G>C (p.Gly97Ala)
c.319+2049G>C
c.1174G>C (p.Ala392Pro)
11g.71435763C>TCA381702306DHCR7c.1040G>A (p.Gly347Asp)
c.866G>A (p.Gly289Asp)
c.1091G>A (p.Gly364Asp)
c.1076G>A (p.Gly359Asp)
c.1048G>A (p.Ala350Thr)
n.1080G>A
c.455G>A (p.Gly152Asp)
c.944G>A (p.Gly315Asp)
c.541G>A (p.Ala181Thr)
c.290G>A (p.Gly97Asp)
c.319+2049G>A
c.1174G>A (p.Ala392Thr)
11g.71435764C>ACA381702308DHCR7c.1039G>T (p.Gly347Cys)
c.865G>T (p.Gly289Cys)
c.1090G>T (p.Gly364Cys)
c.1075G>T (p.Gly359Cys)
c.1047G>T (p.Trp349Cys)
n.1079G>T
c.454G>T (p.Gly152Cys)
c.943G>T (p.Gly315Cys)
c.540G>T (p.Trp180Cys)
c.289G>T (p.Gly97Cys)
c.319+2048G>T
c.1173G>T (p.Trp391Cys)
 gnomAD v4
11g.71435764C>GCA381702310DHCR7c.1039G>C (p.Gly347Arg)
c.865G>C (p.Gly289Arg)
c.1090G>C (p.Gly364Arg)
c.1075G>C (p.Gly359Arg)
c.1047G>C (p.Trp349Cys)
n.1079G>C
c.454G>C (p.Gly152Arg)
c.943G>C (p.Gly315Arg)
c.540G>C (p.Trp180Cys)
c.289G>C (p.Gly97Arg)
c.319+2048G>C
c.1173G>C (p.Trp391Cys)
11g.71435764C>TCA381702314DHCR7c.1039G>A (p.Gly347Ser)
c.865G>A (p.Gly289Ser)
c.1090G>A (p.Gly364Ser)
c.1075G>A (p.Gly359Ser)
c.1047G>A (p.Trp349Ter)
n.1079G>A
c.454G>A (p.Gly152Ser)
c.943G>A (p.Gly315Ser)
c.540G>A (p.Trp180Ter)
c.289G>A (p.Gly97Ser)
c.319+2048G>A
c.1173G>A (p.Trp391Ter)
 ClinVar dbSNP gnomAD v4
11g.71435765C>ACA381702316DHCR7c.1038G>T (p.Val346=)
c.864G>T (p.Val288=)
c.1089G>T (p.Val363=)
c.1074G>T (p.Val358=)
c.1046G>T (p.Trp349Leu)
n.1078G>T
c.453G>T (p.Val151=)
c.942G>T (p.Val314=)
c.539G>T (p.Trp180Leu)
c.288G>T (p.Val96=)
c.319+2047G>T
c.1172G>T (p.Trp391Leu)
 gnomAD v4
11g.71435765C>GCA381702317DHCR7c.1038G>C (p.Val346=)
c.864G>C (p.Val288=)
c.1089G>C (p.Val363=)
c.1074G>C (p.Val358=)
c.1046G>C (p.Trp349Ser)
n.1078G>C
c.453G>C (p.Val151=)
c.942G>C (p.Val314=)
c.539G>C (p.Trp180Ser)
c.288G>C (p.Val96=)
c.319+2047G>C
c.1172G>C (p.Trp391Ser)
11g.71435765C>TCA381702319DHCR7c.1038G>A (p.Val346=)
c.864G>A (p.Val288=)
c.1089G>A (p.Val363=)
c.1074G>A (p.Val358=)
c.1046G>A (p.Trp349Ter)
n.1078G>A
c.453G>A (p.Val151=)
c.942G>A (p.Val314=)
c.539G>A (p.Trp180Ter)
c.288G>A (p.Val96=)
c.319+2047G>A
c.1172G>A (p.Trp391Ter)
11g.71435766A=CA1981487012DHCR7c.1037T= (p.Val346=)
c.863T= (p.Val288=)
c.1088T= (p.Val363=)
c.1073T= (p.Val358=)
c.1045T= (p.Trp349=)
n.1077T=
c.452T= (p.Val151=)
c.941T= (p.Val314=)
c.538T= (p.Trp180=)
c.287T= (p.Val96=)
c.319+2046T=
c.1171T= (p.Trp391=)
11g.71435766A>CCA381702320DHCR7c.1037T>G (p.Val346Gly)
c.863T>G (p.Val288Gly)
c.1088T>G (p.Val363Gly)
c.1073T>G (p.Val358Gly)
c.1045T>G (p.Trp349Gly)
n.1077T>G
c.452T>G (p.Val151Gly)
c.941T>G (p.Val314Gly)
c.538T>G (p.Trp180Gly)
c.287T>G (p.Val96Gly)
c.319+2046T>G
c.1171T>G (p.Trp391Gly)
 gnomAD v4
11g.71435766A>GCA381702321DHCR7c.1037T>C (p.Val346Ala)
c.863T>C (p.Val288Ala)
c.1088T>C (p.Val363Ala)
c.1073T>C (p.Val358Ala)
c.1045T>C (p.Trp349Arg)
n.1077T>C
c.452T>C (p.Val151Ala)
c.941T>C (p.Val314Ala)
c.538T>C (p.Trp180Arg)
c.287T>C (p.Val96Ala)
c.319+2046T>C
c.1171T>C (p.Trp391Arg)
11g.71435766A>TCA224324615DHCR7c.1037T>A (p.Val346Glu)
c.863T>A (p.Val288Glu)
c.1088T>A (p.Val363Glu)
c.1073T>A (p.Val358Glu)
c.1045T>A (p.Trp349Arg)
n.1077T>A
c.452T>A (p.Val151Glu)
c.941T>A (p.Val314Glu)
c.538T>A (p.Trp180Arg)
c.287T>A (p.Val96Glu)
c.319+2046T>A
c.1171T>A (p.Trp391Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.71435767C>ACA381702323DHCR7c.1036G>T (p.Val346Leu)
c.862G>T (p.Val288Leu)
c.1087G>T (p.Val363Leu)
c.1072G>T (p.Val358Leu)
c.1044G>T (p.Trp348Cys)
n.1076G>T
c.451G>T (p.Val151Leu)
c.940G>T (p.Val314Leu)
c.537G>T (p.Trp179Cys)
c.286G>T (p.Val96Leu)
c.319+2045G>T
c.1170G>T (p.Trp390Cys)
11g.71435767C>GCA381702325DHCR7c.1036G>C (p.Val346Leu)
c.862G>C (p.Val288Leu)
c.1087G>C (p.Val363Leu)
c.1072G>C (p.Val358Leu)
c.1044G>C (p.Trp348Cys)
n.1076G>C
c.451G>C (p.Val151Leu)
c.940G>C (p.Val314Leu)
c.537G>C (p.Trp179Cys)
c.286G>C (p.Val96Leu)
c.319+2045G>C
c.1170G>C (p.Trp390Cys)
 gnomAD v4
11g.71435767C>TCA381702330DHCR7c.1036G>A (p.Val346Met)
c.862G>A (p.Val288Met)
c.1087G>A (p.Val363Met)
c.1072G>A (p.Val358Met)
c.1044G>A (p.Trp348Ter)
n.1076G>A
c.451G>A (p.Val151Met)
c.940G>A (p.Val314Met)
c.537G>A (p.Trp179Ter)
c.286G>A (p.Val96Met)
c.319+2045G>A
c.1170G>A (p.Trp390Ter)
11g.71435768C>ACA381702332DHCR7c.1035G>T (p.Leu345=)
c.861G>T (p.Leu287=)
c.1086G>T (p.Leu362=)
c.1071G>T (p.Leu357=)
c.1043G>T (p.Trp348Leu)
n.1075G>T
c.450G>T (p.Leu150=)
c.939G>T (p.Leu313=)
c.536G>T (p.Trp179Leu)
c.285G>T (p.Leu95=)
c.319+2044G>T
c.1169G>T (p.Trp390Leu)
11g.71435768C=CA1981487013DHCR7c.1035G= (p.Leu345=)
c.861G= (p.Leu287=)
c.1086G= (p.Leu362=)
c.1071G= (p.Leu357=)
c.1043G= (p.Trp348=)
n.1075G=
c.450G= (p.Leu150=)
c.939G= (p.Leu313=)
c.536G= (p.Trp179=)
c.285G= (p.Leu95=)
c.319+2044G=
c.1169G= (p.Trp390=)
11g.71435768C>GCA6162330DHCR7c.1035G>C (p.Leu345=)
c.861G>C (p.Leu287=)
c.1086G>C (p.Leu362=)
c.1071G>C (p.Leu357=)
c.1043G>C (p.Trp348Ser)
n.1075G>C
c.450G>C (p.Leu150=)
c.939G>C (p.Leu313=)
c.536G>C (p.Trp179Ser)
c.285G>C (p.Leu95=)
c.319+2044G>C
c.1169G>C (p.Trp390Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435768C>TCA381702337DHCR7c.1035G>A (p.Leu345=)
c.861G>A (p.Leu287=)
c.1086G>A (p.Leu362=)
c.1071G>A (p.Leu357=)
c.1043G>A (p.Trp348Ter)
n.1075G>A
c.450G>A (p.Leu150=)
c.939G>A (p.Leu313=)
c.536G>A (p.Trp179Ter)
c.285G>A (p.Leu95=)
c.319+2044G>A
c.1169G>A (p.Trp390Ter)
 gnomAD v4
11g.71435769A>CCA381702342DHCR7c.1034T>G (p.Leu345Arg)
c.860T>G (p.Leu287Arg)
c.1085T>G (p.Leu362Arg)
c.1070T>G (p.Leu357Arg)
c.1042T>G (p.Trp348Gly)
n.1074T>G
c.449T>G (p.Leu150Arg)
c.938T>G (p.Leu313Arg)
c.535T>G (p.Trp179Gly)
c.284T>G (p.Leu95Arg)
c.319+2043T>G
c.1168T>G (p.Trp390Gly)
11g.71435769A>GCA381702339DHCR7c.1034T>C (p.Leu345Pro)
c.860T>C (p.Leu287Pro)
c.1085T>C (p.Leu362Pro)
c.1070T>C (p.Leu357Pro)
c.1042T>C (p.Trp348Arg)
n.1074T>C
c.449T>C (p.Leu150Pro)
c.938T>C (p.Leu313Pro)
c.535T>C (p.Trp179Arg)
c.284T>C (p.Leu95Pro)
c.319+2043T>C
c.1168T>C (p.Trp390Arg)
 gnomAD v4
11g.71435769A>TCA381702340DHCR7c.1034T>A (p.Leu345Gln)
c.860T>A (p.Leu287Gln)
c.1085T>A (p.Leu362Gln)
c.1070T>A (p.Leu357Gln)
c.1042T>A (p.Trp348Arg)
n.1074T>A
c.449T>A (p.Leu150Gln)
c.938T>A (p.Leu313Gln)
c.535T>A (p.Trp179Arg)
c.284T>A (p.Leu95Gln)
c.319+2043T>A
c.1168T>A (p.Trp390Arg)
11g.71435770G>ACA475860838DHCR7c.1033C>T (p.Leu345=)
c.859C>T (p.Leu287=)
c.1084C>T (p.Leu362=)
c.1069C>T (p.Leu357=)
c.1041C>T (p.Ala347=)
n.1073C>T
c.448C>T (p.Leu150=)
c.937C>T (p.Leu313=)
c.534C>T (p.Ala178=)
c.283C>T (p.Leu95=)
c.319+2042C>T
c.1167C>T (p.Ala389=)
 gnomAD v4
11g.71435770G>CCA381702346DHCR7c.1033C>G (p.Leu345Val)
c.859C>G (p.Leu287Val)
c.1084C>G (p.Leu362Val)
c.1069C>G (p.Leu357Val)
c.1041C>G (p.Ala347=)
n.1073C>G
c.448C>G (p.Leu150Val)
c.937C>G (p.Leu313Val)
c.534C>G (p.Ala178=)
c.283C>G (p.Leu95Val)
c.319+2042C>G
c.1167C>G (p.Ala389=)
11g.71435770G>TCA381702348DHCR7c.1033C>A (p.Leu345Met)
c.859C>A (p.Leu287Met)
c.1084C>A (p.Leu362Met)
c.1069C>A (p.Leu357Met)
c.1041C>A (p.Ala347=)
n.1073C>A
c.448C>A (p.Leu150Met)
c.937C>A (p.Leu313Met)
c.534C>A (p.Ala178=)
c.283C>A (p.Leu95Met)
c.319+2042C>A
c.1167C>A (p.Ala389=)
11g.71435771G>ACA381702349DHCR7c.1032C>T (p.Gly344=)
c.858C>T (p.Gly286=)
c.1083C>T (p.Gly361=)
c.1068C>T (p.Gly356=)
c.1040C>T (p.Ala347Val)
n.1072C>T
c.447C>T (p.Gly149=)
c.936C>T (p.Gly312=)
c.533C>T (p.Ala178Val)
c.282C>T (p.Gly94=)
c.319+2041C>T
c.1166C>T (p.Ala389Val)
11g.71435771G>CCA381702350DHCR7c.1032C>G (p.Gly344=)
c.858C>G (p.Gly286=)
c.1083C>G (p.Gly361=)
c.1068C>G (p.Gly356=)
c.1040C>G (p.Ala347Gly)
n.1072C>G
c.447C>G (p.Gly149=)
c.936C>G (p.Gly312=)
c.533C>G (p.Ala178Gly)
c.282C>G (p.Gly94=)
c.319+2041C>G
c.1166C>G (p.Ala389Gly)
11g.71435771G>TCA381702351DHCR7c.1032C>A (p.Gly344=)
c.858C>A (p.Gly286=)
c.1083C>A (p.Gly361=)
c.1068C>A (p.Gly356=)
c.1040C>A (p.Ala347Asp)
n.1072C>A
c.447C>A (p.Gly149=)
c.936C>A (p.Gly312=)
c.533C>A (p.Ala178Asp)
c.282C>A (p.Gly94=)
c.319+2041C>A
c.1166C>A (p.Ala389Asp)
 gnomAD v4 COSMIC COSMIC
11g.71435772C>ACA381702353DHCR7c.1031G>T (p.Gly344Val)
c.857G>T (p.Gly286Val)
c.1082G>T (p.Gly361Val)
c.1067G>T (p.Gly356Val)
c.1039G>T (p.Ala347Ser)
n.1071G>T
c.446G>T (p.Gly149Val)
c.935G>T (p.Gly312Val)
c.532G>T (p.Ala178Ser)
c.281G>T (p.Gly94Val)
c.319+2040G>T
c.1165G>T (p.Ala389Ser)
11g.71435772C=CA1981487014DHCR7c.1031G= (p.Gly344=)
c.857G= (p.Gly286=)
c.1082G= (p.Gly361=)
c.1067G= (p.Gly356=)
c.1039G= (p.Ala347=)
n.1071G=
c.446G= (p.Gly149=)
c.935G= (p.Gly312=)
c.532G= (p.Ala178=)
c.281G= (p.Gly94=)
c.319+2040G=
c.1165G= (p.Ala389=)
11g.71435772C>GCA381702356DHCR7c.1031G>C (p.Gly344Ala)
c.857G>C (p.Gly286Ala)
c.1082G>C (p.Gly361Ala)
c.1067G>C (p.Gly356Ala)
c.1039G>C (p.Ala347Pro)
n.1071G>C
c.446G>C (p.Gly149Ala)
c.935G>C (p.Gly312Ala)
c.532G>C (p.Ala178Pro)
c.281G>C (p.Gly94Ala)
c.319+2040G>C
c.1165G>C (p.Ala389Pro)
11g.71435772C>TCA381702355DHCR7c.1031G>A (p.Gly344Asp)
c.857G>A (p.Gly286Asp)
c.1082G>A (p.Gly361Asp)
c.1067G>A (p.Gly356Asp)
c.1039G>A (p.Ala347Thr)
n.1071G>A
c.446G>A (p.Gly149Asp)
c.935G>A (p.Gly312Asp)
c.532G>A (p.Ala178Thr)
c.281G>A (p.Gly94Asp)
c.319+2040G>A
c.1165G>A (p.Ala389Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435774delCA2697548785DHCR7c.1031del (p.Gly344AlafsTer?)
c.857del (p.Gly286AlafsTer?)
c.1082del (p.Gly361AlafsTer?)
c.1067del (p.Gly356AlafsTer?)
c.1039del (p.Ala347ProfsTer?)
n.1071del
c.446del (p.Gly149AlafsTer?)
c.935del (p.Gly312AlafsTer?)
c.532del (p.Ala178ProfsTer?)
c.281del (p.Gly94AlafsTer?)
c.319+2040del
c.1165del (p.Ala389ProfsTer?)
 ClinVar
11g.71435773C>ACA381702357DHCR7c.1030G>T (p.Gly344Cys)
c.856G>T (p.Gly286Cys)
c.1081G>T (p.Gly361Cys)
c.1066G>T (p.Gly356Cys)
c.1038G>T (p.Trp346Cys)
n.1070G>T
c.445G>T (p.Gly149Cys)
c.934G>T (p.Gly312Cys)
c.531G>T (p.Trp177Cys)
c.280G>T (p.Gly94Cys)
c.319+2039G>T
c.1164G>T (p.Trp388Cys)
11g.71435773C=CA1981487015DHCR7c.1030G= (p.Gly344=)
c.856G= (p.Gly286=)
c.1081G= (p.Gly361=)
c.1066G= (p.Gly356=)
c.1038G= (p.Trp346=)
n.1070G=
c.445G= (p.Gly149=)
c.934G= (p.Gly312=)
c.531G= (p.Trp177=)
c.280G= (p.Gly94=)
c.319+2039G=
c.1164G= (p.Trp388=)
11g.71435773C>GCA381702358DHCR7c.1030G>C (p.Gly344Arg)
c.856G>C (p.Gly286Arg)
c.1081G>C (p.Gly361Arg)
c.1066G>C (p.Gly356Arg)
c.1038G>C (p.Trp346Cys)
n.1070G>C
c.445G>C (p.Gly149Arg)
c.934G>C (p.Gly312Arg)
c.531G>C (p.Trp177Cys)
c.280G>C (p.Gly94Arg)
c.319+2039G>C
c.1164G>C (p.Trp388Cys)
11g.71435773C>TCA224324622DHCR7c.1030G>A (p.Gly344Ser)
c.856G>A (p.Gly286Ser)
c.1081G>A (p.Gly361Ser)
c.1066G>A (p.Gly356Ser)
c.1038G>A (p.Trp346Ter)
n.1070G>A
c.445G>A (p.Gly149Ser)
c.934G>A (p.Gly312Ser)
c.531G>A (p.Trp177Ter)
c.280G>A (p.Gly94Ser)
c.319+2039G>A
c.1164G>A (p.Trp388Ter)
 dbSNP
11g.71435774C>ACA381702359DHCR7c.1029G>T (p.Leu343=)
c.855G>T (p.Leu285=)
c.1080G>T (p.Leu360=)
c.1065G>T (p.Leu355=)
c.1037G>T (p.Trp346Leu)
n.1069G>T
c.444G>T (p.Leu148=)
c.933G>T (p.Leu311=)
c.530G>T (p.Trp177Leu)
c.279G>T (p.Leu93=)
c.319+2038G>T
c.1163G>T (p.Trp388Leu)
11g.71435774C>GCA381702361DHCR7c.1029G>C (p.Leu343=)
c.855G>C (p.Leu285=)
c.1080G>C (p.Leu360=)
c.1065G>C (p.Leu355=)
c.1037G>C (p.Trp346Ser)
n.1069G>C
c.444G>C (p.Leu148=)
c.933G>C (p.Leu311=)
c.530G>C (p.Trp177Ser)
c.279G>C (p.Leu93=)
c.319+2038G>C
c.1163G>C (p.Trp388Ser)
11g.71435774C>TCA381702362DHCR7c.1029G>A (p.Leu343=)
c.855G>A (p.Leu285=)
c.1080G>A (p.Leu360=)
c.1065G>A (p.Leu355=)
c.1037G>A (p.Trp346Ter)
n.1069G>A
c.444G>A (p.Leu148=)
c.933G>A (p.Leu311=)
c.530G>A (p.Trp177Ter)
c.279G>A (p.Leu93=)
c.319+2038G>A
c.1163G>A (p.Trp388Ter)
 gnomAD v4
11g.71435775A>CCA381702363DHCR7c.1028T>G (p.Leu343Arg)
c.854T>G (p.Leu285Arg)
c.1079T>G (p.Leu360Arg)
c.1064T>G (p.Leu355Arg)
c.1036T>G (p.Trp346Gly)
n.1068T>G
c.443T>G (p.Leu148Arg)
c.932T>G (p.Leu311Arg)
c.529T>G (p.Trp177Gly)
c.278T>G (p.Leu93Arg)
c.319+2037T>G
c.1162T>G (p.Trp388Gly)
 gnomAD v4
11g.71435775A>GCA381702364DHCR7c.1028T>C (p.Leu343Pro)
c.854T>C (p.Leu285Pro)
c.1079T>C (p.Leu360Pro)
c.1064T>C (p.Leu355Pro)
c.1036T>C (p.Trp346Arg)
n.1068T>C
c.443T>C (p.Leu148Pro)
c.932T>C (p.Leu311Pro)
c.529T>C (p.Trp177Arg)
c.278T>C (p.Leu93Pro)
c.319+2037T>C
c.1162T>C (p.Trp388Arg)
11g.71435775A>TCA381702366DHCR7c.1028T>A (p.Leu343Gln)
c.854T>A (p.Leu285Gln)
c.1079T>A (p.Leu360Gln)
c.1064T>A (p.Leu355Gln)
c.1036T>A (p.Trp346Arg)
n.1068T>A
c.443T>A (p.Leu148Gln)
c.932T>A (p.Leu311Gln)
c.529T>A (p.Trp177Arg)
c.278T>A (p.Leu93Gln)
c.319+2037T>A
c.1162T>A (p.Trp388Arg)
11g.71435776G>ACA475860839DHCR7c.1027C>T (p.Leu343=)
c.853C>T (p.Leu285=)
c.1078C>T (p.Leu360=)
c.1063C>T (p.Leu355=)
c.1035C>T (p.Cys345=)
n.1067C>T
c.442C>T (p.Leu148=)
c.931C>T (p.Leu311=)
c.528C>T (p.Cys176=)
c.277C>T (p.Leu93=)
c.319+2036C>T
c.1161C>T (p.Cys387=)
11g.71435776G>CCA381702367DHCR7c.1027C>G (p.Leu343Val)
c.853C>G (p.Leu285Val)
c.1078C>G (p.Leu360Val)
c.1063C>G (p.Leu355Val)
c.1035C>G (p.Cys345Trp)
n.1067C>G
c.442C>G (p.Leu148Val)
c.931C>G (p.Leu311Val)
c.528C>G (p.Cys176Trp)
c.277C>G (p.Leu93Val)
c.319+2036C>G
c.1161C>G (p.Cys387Trp)
11g.71435776G>TCA381702369DHCR7c.1027C>A (p.Leu343Met)
c.853C>A (p.Leu285Met)
c.1078C>A (p.Leu360Met)
c.1063C>A (p.Leu355Met)
c.1035C>A (p.Cys345Ter)
n.1067C>A
c.442C>A (p.Leu148Met)
c.931C>A (p.Leu311Met)
c.528C>A (p.Cys176Ter)
c.277C>A (p.Leu93Met)
c.319+2036C>A
c.1161C>A (p.Cys387Ter)
11g.71435777C>ACA381702371DHCR7c.1026G>T (p.Leu342=)
c.852G>T (p.Leu284=)
c.1077G>T (p.Leu359=)
c.1062G>T (p.Leu354=)
c.1034G>T (p.Cys345Phe)
n.1066G>T
c.441G>T (p.Leu147=)
c.930G>T (p.Leu310=)
c.527G>T (p.Cys176Phe)
c.276G>T (p.Leu92=)
c.319+2035G>T
c.1160G>T (p.Cys387Phe)
11g.71435777C>GCA381702374DHCR7c.1026G>C (p.Leu342=)
c.852G>C (p.Leu284=)
c.1077G>C (p.Leu359=)
c.1062G>C (p.Leu354=)
c.1034G>C (p.Cys345Ser)
n.1066G>C
c.441G>C (p.Leu147=)
c.930G>C (p.Leu310=)
c.527G>C (p.Cys176Ser)
c.276G>C (p.Leu92=)
c.319+2035G>C
c.1160G>C (p.Cys387Ser)
11g.71435777C>TCA381702372DHCR7c.1026G>A (p.Leu342=)
c.852G>A (p.Leu284=)
c.1077G>A (p.Leu359=)
c.1062G>A (p.Leu354=)
c.1034G>A (p.Cys345Tyr)
n.1066G>A
c.441G>A (p.Leu147=)
c.930G>A (p.Leu310=)
c.527G>A (p.Cys176Tyr)
c.276G>A (p.Leu92=)
c.319+2035G>A
c.1160G>A (p.Cys387Tyr)
 gnomAD v4
11g.71435778A=CA1981487016DHCR7c.1025T= (p.Leu342=)
c.851T= (p.Leu284=)
c.1076T= (p.Leu359=)
c.1061T= (p.Leu354=)
c.1033T= (p.Cys345=)
n.1065T=
c.440T= (p.Leu147=)
c.929T= (p.Leu310=)
c.526T= (p.Cys176=)
c.275T= (p.Leu92=)
c.319+2034T=
c.1159T= (p.Cys387=)
11g.71435778A>CCA381702376DHCR7c.1025T>G (p.Leu342Arg)
c.851T>G (p.Leu284Arg)
c.1076T>G (p.Leu359Arg)
c.1061T>G (p.Leu354Arg)
c.1033T>G (p.Cys345Gly)
n.1065T>G
c.440T>G (p.Leu147Arg)
c.929T>G (p.Leu310Arg)
c.526T>G (p.Cys176Gly)
c.275T>G (p.Leu92Arg)
c.319+2034T>G
c.1159T>G (p.Cys387Gly)
11g.71435778A>GCA224324629DHCR7c.1025T>C (p.Leu342Pro)
c.851T>C (p.Leu284Pro)
c.1076T>C (p.Leu359Pro)
c.1061T>C (p.Leu354Pro)
c.1033T>C (p.Cys345Arg)
n.1065T>C
c.440T>C (p.Leu147Pro)
c.929T>C (p.Leu310Pro)
c.526T>C (p.Cys176Arg)
c.275T>C (p.Leu92Pro)
c.319+2034T>C
c.1159T>C (p.Cys387Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435778A>TCA381702378DHCR7c.1025T>A (p.Leu342Gln)
c.851T>A (p.Leu284Gln)
c.1076T>A (p.Leu359Gln)
c.1061T>A (p.Leu354Gln)
c.1033T>A (p.Cys345Ser)
n.1065T>A
c.440T>A (p.Leu147Gln)
c.929T>A (p.Leu310Gln)
c.526T>A (p.Cys176Ser)
c.275T>A (p.Leu92Gln)
c.319+2034T>A
c.1159T>A (p.Cys387Ser)
11g.71435779G>ACA475860840DHCR7c.1024C>T (p.Leu342=)
c.850C>T (p.Leu284=)
c.1075C>T (p.Leu359=)
c.1060C>T (p.Leu354=)
c.1032C>T (p.Cys344=)
n.1064C>T
c.439C>T (p.Leu147=)
c.928C>T (p.Leu310=)
c.525C>T (p.Cys175=)
c.274C>T (p.Leu92=)
c.319+2033C>T
c.1158C>T (p.Cys386=)
11g.71435779G>CCA381702380DHCR7c.1024C>G (p.Leu342Val)
c.850C>G (p.Leu284Val)
c.1075C>G (p.Leu359Val)
c.1060C>G (p.Leu354Val)
c.1032C>G (p.Cys344Trp)
n.1064C>G
c.439C>G (p.Leu147Val)
c.928C>G (p.Leu310Val)
c.525C>G (p.Cys175Trp)
c.274C>G (p.Leu92Val)
c.319+2033C>G
c.1158C>G (p.Cys386Trp)
11g.71435779G>TCA381702382DHCR7c.1024C>A (p.Leu342Met)
c.850C>A (p.Leu284Met)
c.1075C>A (p.Leu359Met)
c.1060C>A (p.Leu354Met)
c.1032C>A (p.Cys344Ter)
n.1064C>A
c.439C>A (p.Leu147Met)
c.928C>A (p.Leu310Met)
c.525C>A (p.Cys175Ter)
c.274C>A (p.Leu92Met)
c.319+2033C>A
c.1158C>A (p.Cys386Ter)
11g.71435780C>ACA381702383DHCR7c.1023G>T (p.Leu341=)
c.849G>T (p.Leu283=)
c.1074G>T (p.Leu358=)
c.1059G>T (p.Leu353=)
c.1031G>T (p.Cys344Phe)
n.1063G>T
c.438G>T (p.Leu146=)
c.927G>T (p.Leu309=)
c.524G>T (p.Cys175Phe)
c.273G>T (p.Leu91=)
c.319+2032G>T
c.1157G>T (p.Cys386Phe)
 gnomAD v4
11g.71435780C=CA1981487017DHCR7c.1023G= (p.Leu341=)
c.849G= (p.Leu283=)
c.1074G= (p.Leu358=)
c.1059G= (p.Leu353=)
c.1031G= (p.Cys344=)
n.1063G=
c.438G= (p.Leu146=)
c.927G= (p.Leu309=)
c.524G= (p.Cys175=)
c.273G= (p.Leu91=)
c.319+2032G=
c.1157G= (p.Cys386=)
11g.71435780C>GCA381702384DHCR7c.1023G>C (p.Leu341=)
c.849G>C (p.Leu283=)
c.1074G>C (p.Leu358=)
c.1059G>C (p.Leu353=)
c.1031G>C (p.Cys344Ser)
n.1063G>C
c.438G>C (p.Leu146=)
c.927G>C (p.Leu309=)
c.524G>C (p.Cys175Ser)
c.273G>C (p.Leu91=)
c.319+2032G>C
c.1157G>C (p.Cys386Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.71435780C>TCA381702386DHCR7c.1023G>A (p.Leu341=)
c.849G>A (p.Leu283=)
c.1074G>A (p.Leu358=)
c.1059G>A (p.Leu353=)
c.1031G>A (p.Cys344Tyr)
n.1063G>A
c.438G>A (p.Leu146=)
c.927G>A (p.Leu309=)
c.524G>A (p.Cys175Tyr)
c.273G>A (p.Leu91=)
c.319+2032G>A
c.1157G>A (p.Cys386Tyr)
11g.71435781A=CA1981487018DHCR7c.1022T= (p.Leu341=)
c.848T= (p.Leu283=)
c.1073T= (p.Leu358=)
c.1058T= (p.Leu353=)
c.1030T= (p.Cys344=)
n.1062T=
c.437T= (p.Leu146=)
c.926T= (p.Leu309=)
c.523T= (p.Cys175=)
c.272T= (p.Leu91=)
c.319+2031T=
c.1156T= (p.Cys386=)
11g.71435781A>CCA381702388DHCR7c.1022T>G (p.Leu341Arg)
c.848T>G (p.Leu283Arg)
c.1073T>G (p.Leu358Arg)
c.1058T>G (p.Leu353Arg)
c.1030T>G (p.Cys344Gly)
n.1062T>G
c.437T>G (p.Leu146Arg)
c.926T>G (p.Leu309Arg)
c.523T>G (p.Cys175Gly)
c.272T>G (p.Leu91Arg)
c.319+2031T>G
c.1156T>G (p.Cys386Gly)
11g.71435781A>GCA381702390DHCR7c.1022T>C (p.Leu341Pro)
c.848T>C (p.Leu283Pro)
c.1073T>C (p.Leu358Pro)
c.1058T>C (p.Leu353Pro)
c.1030T>C (p.Cys344Arg)
n.1062T>C
c.437T>C (p.Leu146Pro)
c.926T>C (p.Leu309Pro)
c.523T>C (p.Cys175Arg)
c.272T>C (p.Leu91Pro)
c.319+2031T>C
c.1156T>C (p.Cys386Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435781A>TCA381702391DHCR7c.1022T>A (p.Leu341Gln)
c.848T>A (p.Leu283Gln)
c.1073T>A (p.Leu358Gln)
c.1058T>A (p.Leu353Gln)
c.1030T>A (p.Cys344Ser)
n.1062T>A
c.437T>A (p.Leu146Gln)
c.926T>A (p.Leu309Gln)
c.523T>A (p.Cys175Ser)
c.272T>A (p.Leu91Gln)
c.319+2031T>A
c.1156T>A (p.Cys386Ser)
11g.71435782G>ACA475860841DHCR7c.1021C>T (p.Leu341=)
c.847C>T (p.Leu283=)
c.1072C>T (p.Leu358=)
c.1057C>T (p.Leu353=)
c.1029C>T (p.Ser343=)
n.1061C>T
c.436C>T (p.Leu146=)
c.925C>T (p.Leu309=)
c.522C>T (p.Ser174=)
c.271C>T (p.Leu91=)
c.319+2030C>T
c.1155C>T (p.Ser385=)
11g.71435782G>CCA381702393DHCR7c.1021C>G (p.Leu341Val)
c.847C>G (p.Leu283Val)
c.1072C>G (p.Leu358Val)
c.1057C>G (p.Leu353Val)
c.1029C>G (p.Ser343=)
n.1061C>G
c.436C>G (p.Leu146Val)
c.925C>G (p.Leu309Val)
c.522C>G (p.Ser174=)
c.271C>G (p.Leu91Val)
c.319+2030C>G
c.1155C>G (p.Ser385=)
11g.71435782G>TCA381702394DHCR7c.1021C>A (p.Leu341Met)
c.847C>A (p.Leu283Met)
c.1072C>A (p.Leu358Met)
c.1057C>A (p.Leu353Met)
c.1029C>A (p.Ser343=)
n.1061C>A
c.436C>A (p.Leu146Met)
c.925C>A (p.Leu309Met)
c.522C>A (p.Ser174=)
c.271C>A (p.Leu91Met)
c.319+2030C>A
c.1155C>A (p.Ser385=)
11g.71435784_71435793delCA912973036DHCR7c.1012_1021del (p.Val338CysfsTer?)
c.838_847del (p.Val280CysfsTer?)
c.1063_1072del (p.Val355CysfsTer?)
c.1048_1057del (p.Val350CysfsTer?)
c.1020_1029del (p.Trp341AlafsTer?)
n.1052_1061del
c.427_436del (p.Val143CysfsTer?)
c.916_925del (p.Val306CysfsTer?)
c.513_522del (p.Trp172AlafsTer?)
c.262_271del (p.Val88CysfsTer?)
c.319+2021_319+2030del
c.1146_1155del (p.Trp383AlafsTer?)
11g.71435783G>ACA6162331DHCR7c.1020C>T (p.Val340=)
c.846C>T (p.Val282=)
c.1071C>T (p.Val357=)
c.1056C>T (p.Val352=)
c.1028C>T (p.Ser343Phe)
n.1060C>T
c.435C>T (p.Val145=)
c.924C>T (p.Val308=)
c.521C>T (p.Ser174Phe)
c.270C>T (p.Val90=)
c.319+2029C>T
c.1154C>T (p.Ser385Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435783G>CCA381702397DHCR7c.1020C>G (p.Val340=)
c.846C>G (p.Val282=)
c.1071C>G (p.Val357=)
c.1056C>G (p.Val352=)
c.1028C>G (p.Ser343Cys)
n.1060C>G
c.435C>G (p.Val145=)
c.924C>G (p.Val308=)
c.521C>G (p.Ser174Cys)
c.270C>G (p.Val90=)
c.319+2029C>G
c.1154C>G (p.Ser385Cys)
11g.71435783G=CA1981487019DHCR7c.1020C= (p.Val340=)
c.846C= (p.Val282=)
c.1071C= (p.Val357=)
c.1056C= (p.Val352=)
c.1028C= (p.Ser343=)
n.1060C=
c.435C= (p.Val145=)
c.924C= (p.Val308=)
c.521C= (p.Ser174=)
c.270C= (p.Val90=)
c.319+2029C=
c.1154C= (p.Ser385=)
11g.71435783G>TCA381702398DHCR7c.1020C>A (p.Val340=)
c.846C>A (p.Val282=)
c.1071C>A (p.Val357=)
c.1056C>A (p.Val352=)
c.1028C>A (p.Ser343Tyr)
n.1060C>A
c.435C>A (p.Val145=)
c.924C>A (p.Val308=)
c.521C>A (p.Ser174Tyr)
c.270C>A (p.Val90=)
c.319+2029C>A
c.1154C>A (p.Ser385Tyr)
 gnomAD v4
11g.71435784A>CCA381702400DHCR7c.1019T>G (p.Val340Gly)
c.845T>G (p.Val282Gly)
c.1070T>G (p.Val357Gly)
c.1055T>G (p.Val352Gly)
c.1027T>G (p.Ser343Ala)
n.1059T>G
c.434T>G (p.Val145Gly)
c.923T>G (p.Val308Gly)
c.520T>G (p.Ser174Ala)
c.269T>G (p.Val90Gly)
c.319+2028T>G
c.1153T>G (p.Ser385Ala)
11g.71435784A>GCA381702402DHCR7c.1019T>C (p.Val340Ala)
c.845T>C (p.Val282Ala)
c.1070T>C (p.Val357Ala)
c.1055T>C (p.Val352Ala)
c.1027T>C (p.Ser343Pro)
n.1059T>C
c.434T>C (p.Val145Ala)
c.923T>C (p.Val308Ala)
c.520T>C (p.Ser174Pro)
c.269T>C (p.Val90Ala)
c.319+2028T>C
c.1153T>C (p.Ser385Pro)
11g.71435784A>TCA381702403DHCR7c.1019T>A (p.Val340Asp)
c.845T>A (p.Val282Asp)
c.1070T>A (p.Val357Asp)
c.1055T>A (p.Val352Asp)
c.1027T>A (p.Ser343Thr)
n.1059T>A
c.434T>A (p.Val145Asp)
c.923T>A (p.Val308Asp)
c.520T>A (p.Ser174Thr)
c.269T>A (p.Val90Asp)
c.319+2028T>A
c.1153T>A (p.Ser385Thr)
 COSMIC COSMIC
11g.71435784_71435793delinsACGCCCACGGCA1981487020DHCR7c.1010_1019delinsCCGTGGGCGT (p.Ala337=)
c.836_845delinsCCGTGGGCGT (p.Ala279=)
c.1061_1070delinsCCGTGGGCGT (p.Ala354=)
c.1046_1055delinsCCGTGGGCGT (p.Ala349=)
c.1018_1027delinsCCGTGGGCGT (p.Pro340=)
n.1050_1059delinsCCGTGGGCGT
c.425_434delinsCCGTGGGCGT (p.Ala142=)
c.914_923delinsCCGTGGGCGT (p.Ala305=)
c.511_520delinsCCGTGGGCGT (p.Pro171=)
c.260_269delinsCCGTGGGCGT (p.Ala87=)
c.319+2019_319+2028delinsCCGTGGGCGT
c.1144_1153delinsCCGTGGGCGT (p.Pro382=)
11g.71435785C>ACA381702405DHCR7c.1018G>T (p.Val340Phe)
c.844G>T (p.Val282Phe)
c.1069G>T (p.Val357Phe)
c.1054G>T (p.Val352Phe)
c.1026G>T (p.Ala342=)
n.1058G>T
c.433G>T (p.Val145Phe)
c.922G>T (p.Val308Phe)
c.519G>T (p.Ala173=)
c.268G>T (p.Val90Phe)
c.319+2027G>T
c.1152G>T (p.Ala384=)
 gnomAD v4
11g.71435785C=CA1981487021DHCR7c.1018G= (p.Val340=)
c.844G= (p.Val282=)
c.1069G= (p.Val357=)
c.1054G= (p.Val352=)
c.1026G= (p.Ala342=)
n.1058G=
c.433G= (p.Val145=)
c.922G= (p.Val308=)
c.519G= (p.Ala173=)
c.268G= (p.Val90=)
c.319+2027G=
c.1152G= (p.Ala384=)
11g.71435785C>GCA381702408DHCR7c.1018G>C (p.Val340Leu)
c.844G>C (p.Val282Leu)
c.1069G>C (p.Val357Leu)
c.1054G>C (p.Val352Leu)
c.1026G>C (p.Ala342=)
n.1058G>C
c.433G>C (p.Val145Leu)
c.922G>C (p.Val308Leu)
c.519G>C (p.Ala173=)
c.268G>C (p.Val90Leu)
c.319+2027G>C
c.1152G>C (p.Ala384=)
11g.71435785C>TCA6162332DHCR7c.1018G>A (p.Val340Ile)
c.844G>A (p.Val282Ile)
c.1069G>A (p.Val357Ile)
c.1054G>A (p.Val352Ile)
c.1026G>A (p.Ala342=)
n.1058G>A
c.433G>A (p.Val145Ile)
c.922G>A (p.Val308Ile)
c.519G>A (p.Ala173=)
c.268G>A (p.Val90Ile)
c.319+2027G>A
c.1152G>A (p.Ala384=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435787_71435795delCA658823152DHCR7c.1010_1018del (p.Ala337_Gly339del)
c.836_844del (p.Ala279_Gly281del)
c.1061_1069del (p.Ala354_Gly356del)
c.1046_1054del (p.Ala349_Gly351del)
c.1018_1026del (p.Pro340_Ala342del)
n.1050_1058del
c.425_433del (p.Ala142_Gly144del)
c.914_922del (p.Ala305_Gly307del)
c.511_519del (p.Pro171_Ala173del)
c.260_268del (p.Ala87_Gly89del)
c.319+2019_319+2027del
c.1144_1152del (p.Pro382_Ala384del)
 ClinVar dbSNP gnomAD v4
11g.71435786G>ACA6162333DHCR7c.1017C>T (p.Gly339=)
c.843C>T (p.Gly281=)
c.1068C>T (p.Gly356=)
c.1053C>T (p.Gly351=)
c.1025C>T (p.Ala342Val)
n.1057C>T
c.432C>T (p.Gly144=)
c.921C>T (p.Gly307=)
c.518C>T (p.Ala173Val)
c.267C>T (p.Gly89=)
c.319+2026C>T
c.1151C>T (p.Ala384Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435786G>CCA381702411DHCR7c.1017C>G (p.Gly339=)
c.843C>G (p.Gly281=)
c.1068C>G (p.Gly356=)
c.1053C>G (p.Gly351=)
c.1025C>G (p.Ala342Gly)
n.1057C>G
c.432C>G (p.Gly144=)
c.921C>G (p.Gly307=)
c.518C>G (p.Ala173Gly)
c.267C>G (p.Gly89=)
c.319+2026C>G
c.1151C>G (p.Ala384Gly)
 ClinVar gnomAD v4
11g.71435786G=CA1981487022DHCR7c.1017C= (p.Gly339=)
c.843C= (p.Gly281=)
c.1068C= (p.Gly356=)
c.1053C= (p.Gly351=)
c.1025C= (p.Ala342=)
n.1057C=
c.432C= (p.Gly144=)
c.921C= (p.Gly307=)
c.518C= (p.Ala173=)
c.267C= (p.Gly89=)
c.319+2026C=
c.1151C= (p.Ala384=)
11g.71435786G>TCA381702413DHCR7c.1017C>A (p.Gly339=)
c.843C>A (p.Gly281=)
c.1068C>A (p.Gly356=)
c.1053C>A (p.Gly351=)
c.1025C>A (p.Ala342Glu)
n.1057C>A
c.432C>A (p.Gly144=)
c.921C>A (p.Gly307=)
c.518C>A (p.Ala173Glu)
c.267C>A (p.Gly89=)
c.319+2026C>A
c.1151C>A (p.Ala384Glu)
 gnomAD v4
11g.71435787C>ACA381702414DHCR7c.1016G>T (p.Gly339Val)
c.842G>T (p.Gly281Val)
c.1067G>T (p.Gly356Val)
c.1052G>T (p.Gly351Val)
c.1024G>T (p.Ala342Ser)
n.1056G>T
c.431G>T (p.Gly144Val)
c.920G>T (p.Gly307Val)
c.517G>T (p.Ala173Ser)
c.266G>T (p.Gly89Val)
c.319+2025G>T
c.1150G>T (p.Ala384Ser)
11g.71435787C>GCA381702415DHCR7c.1016G>C (p.Gly339Ala)
c.842G>C (p.Gly281Ala)
c.1067G>C (p.Gly356Ala)
c.1052G>C (p.Gly351Ala)
c.1024G>C (p.Ala342Pro)
n.1056G>C
c.431G>C (p.Gly144Ala)
c.920G>C (p.Gly307Ala)
c.517G>C (p.Ala173Pro)
c.266G>C (p.Gly89Ala)
c.319+2025G>C
c.1150G>C (p.Ala384Pro)
11g.71435787C>TCA381702417DHCR7c.1016G>A (p.Gly339Asp)
c.842G>A (p.Gly281Asp)
c.1067G>A (p.Gly356Asp)
c.1052G>A (p.Gly351Asp)
c.1024G>A (p.Ala342Thr)
n.1056G>A
c.431G>A (p.Gly144Asp)
c.920G>A (p.Gly307Asp)
c.517G>A (p.Ala173Thr)
c.266G>A (p.Gly89Asp)
c.319+2025G>A
c.1150G>A (p.Ala384Thr)
11g.71435788C>ACA381702421DHCR7c.1015G>T (p.Gly339Cys)
c.841G>T (p.Gly281Cys)
c.1066G>T (p.Gly356Cys)
c.1051G>T (p.Gly351Cys)
c.1023G>T (p.Trp341Cys)
n.1055G>T
c.430G>T (p.Gly144Cys)
c.919G>T (p.Gly307Cys)
c.516G>T (p.Trp172Cys)
c.265G>T (p.Gly89Cys)
c.319+2024G>T
c.1149G>T (p.Trp383Cys)
11g.71435788C>GCA381702422DHCR7c.1015G>C (p.Gly339Arg)
c.841G>C (p.Gly281Arg)
c.1066G>C (p.Gly356Arg)
c.1051G>C (p.Gly351Arg)
c.1023G>C (p.Trp341Cys)
n.1055G>C
c.430G>C (p.Gly144Arg)
c.919G>C (p.Gly307Arg)
c.516G>C (p.Trp172Cys)
c.265G>C (p.Gly89Arg)
c.319+2024G>C
c.1149G>C (p.Trp383Cys)
11g.71435788C>TCA381702424DHCR7c.1015G>A (p.Gly339Ser)
c.841G>A (p.Gly281Ser)
c.1066G>A (p.Gly356Ser)
c.1051G>A (p.Gly351Ser)
c.1023G>A (p.Trp341Ter)
n.1055G>A
c.430G>A (p.Gly144Ser)
c.919G>A (p.Gly307Ser)
c.516G>A (p.Trp172Ter)
c.265G>A (p.Gly89Ser)
c.319+2024G>A
c.1149G>A (p.Trp383Ter)
11g.71435789C>ACA381702425DHCR7c.1014G>T (p.Val338=)
c.840G>T (p.Val280=)
c.1065G>T (p.Val355=)
c.1050G>T (p.Val350=)
c.1022G>T (p.Trp341Leu)
n.1054G>T
c.429G>T (p.Val143=)
c.918G>T (p.Val306=)
c.515G>T (p.Trp172Leu)
c.264G>T (p.Val88=)
c.319+2023G>T
c.1148G>T (p.Trp383Leu)
11g.71435789C>GCA381702426DHCR7c.1014G>C (p.Val338=)
c.840G>C (p.Val280=)
c.1065G>C (p.Val355=)
c.1050G>C (p.Val350=)
c.1022G>C (p.Trp341Ser)
n.1054G>C
c.429G>C (p.Val143=)
c.918G>C (p.Val306=)
c.515G>C (p.Trp172Ser)
c.264G>C (p.Val88=)
c.319+2023G>C
c.1148G>C (p.Trp383Ser)
11g.71435789C>TCA381702428DHCR7c.1014G>A (p.Val338=)
c.840G>A (p.Val280=)
c.1065G>A (p.Val355=)
c.1050G>A (p.Val350=)
c.1022G>A (p.Trp341Ter)
n.1054G>A
c.429G>A (p.Val143=)
c.918G>A (p.Val306=)
c.515G>A (p.Trp172Ter)
c.264G>A (p.Val88=)
c.319+2023G>A
c.1148G>A (p.Trp383Ter)
11g.71435790A>CCA381702429DHCR7c.1013T>G (p.Val338Gly)
c.839T>G (p.Val280Gly)
c.1064T>G (p.Val355Gly)
c.1049T>G (p.Val350Gly)
c.1021T>G (p.Trp341Gly)
n.1053T>G
c.428T>G (p.Val143Gly)
c.917T>G (p.Val306Gly)
c.514T>G (p.Trp172Gly)
c.263T>G (p.Val88Gly)
c.319+2022T>G
c.1147T>G (p.Trp383Gly)
11g.71435790A>GCA381702433DHCR7c.1013T>C (p.Val338Ala)
c.839T>C (p.Val280Ala)
c.1064T>C (p.Val355Ala)
c.1049T>C (p.Val350Ala)
c.1021T>C (p.Trp341Arg)
n.1053T>C
c.428T>C (p.Val143Ala)
c.917T>C (p.Val306Ala)
c.514T>C (p.Trp172Arg)
c.263T>C (p.Val88Ala)
c.319+2022T>C
c.1147T>C (p.Trp383Arg)
11g.71435790A>TCA381702431DHCR7c.1013T>A (p.Val338Glu)
c.839T>A (p.Val280Glu)
c.1064T>A (p.Val355Glu)
c.1049T>A (p.Val350Glu)
c.1021T>A (p.Trp341Arg)
n.1053T>A
c.428T>A (p.Val143Glu)
c.917T>A (p.Val306Glu)
c.514T>A (p.Trp172Arg)
c.263T>A (p.Val88Glu)
c.319+2022T>A
c.1147T>A (p.Trp383Arg)
11g.71435791delCA2580084833DHCR7c.1012del (p.Val338TrpfsTer?)
c.838del (p.Val280TrpfsTer?)
c.1063del (p.Val355TrpfsTer?)
c.1048del (p.Val350TrpfsTer?)
c.1020del (p.Trp341GlyfsTer?)
n.1052del
c.427del (p.Val143TrpfsTer?)
c.916del (p.Val306TrpfsTer?)
c.513del (p.Trp172GlyfsTer?)
c.262del (p.Val88TrpfsTer?)
c.319+2021del
c.1146del (p.Trp383GlyfsTer?)
 ClinVar
11g.71435791C>ACA381702434DHCR7c.1012G>T (p.Val338Leu)
c.838G>T (p.Val280Leu)
c.1063G>T (p.Val355Leu)
c.1048G>T (p.Val350Leu)
c.1020G>T (p.Pro340=)
n.1052G>T
c.427G>T (p.Val143Leu)
c.916G>T (p.Val306Leu)
c.513G>T (p.Pro171=)
c.262G>T (p.Val88Leu)
c.319+2021G>T
c.1146G>T (p.Pro382=)
11g.71435791C=CA1981487023DHCR7c.1012G= (p.Val338=)
c.838G= (p.Val280=)
c.1063G= (p.Val355=)
c.1048G= (p.Val350=)
c.1020G= (p.Pro340=)
n.1052G=
c.427G= (p.Val143=)
c.916G= (p.Val306=)
c.513G= (p.Pro171=)
c.262G= (p.Val88=)
c.319+2021G=
c.1146G= (p.Pro382=)
11g.71435791C>GCA381702436DHCR7c.1012G>C (p.Val338Leu)
c.838G>C (p.Val280Leu)
c.1063G>C (p.Val355Leu)
c.1048G>C (p.Val350Leu)
c.1020G>C (p.Pro340=)
n.1052G>C
c.427G>C (p.Val143Leu)
c.916G>C (p.Val306Leu)
c.513G>C (p.Pro171=)
c.262G>C (p.Val88Leu)
c.319+2021G>C
c.1146G>C (p.Pro382=)
11g.71435791C>TCA221647DHCR7c.1012G>A (p.Val338Met)
c.838G>A (p.Val280Met)
c.1063G>A (p.Val355Met)
c.1048G>A (p.Val350Met)
c.1020G>A (p.Pro340=)
n.1052G>A
c.427G>A (p.Val143Met)
c.916G>A (p.Val306Met)
c.513G>A (p.Pro171=)
c.262G>A (p.Val88Met)
c.319+2021G>A
c.1146G>A (p.Pro382=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435792G>ACA6162334DHCR7c.1011C>T (p.Ala337=)
c.837C>T (p.Ala279=)
c.1062C>T (p.Ala354=)
c.1047C>T (p.Ala349=)
c.1019C>T (p.Pro340Leu)
n.1051C>T
c.426C>T (p.Ala142=)
c.915C>T (p.Ala305=)
c.512C>T (p.Pro171Leu)
c.261C>T (p.Ala87=)
c.319+2020C>T
c.1145C>T (p.Pro382Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435792G>CCA381702438DHCR7c.1011C>G (p.Ala337=)
c.837C>G (p.Ala279=)
c.1062C>G (p.Ala354=)
c.1047C>G (p.Ala349=)
c.1019C>G (p.Pro340Arg)
n.1051C>G
c.426C>G (p.Ala142=)
c.915C>G (p.Ala305=)
c.512C>G (p.Pro171Arg)
c.261C>G (p.Ala87=)
c.319+2020C>G
c.1145C>G (p.Pro382Arg)
 ClinVar dbSNP
11g.71435792G=CA1981487024DHCR7c.1011C= (p.Ala337=)
c.837C= (p.Ala279=)
c.1062C= (p.Ala354=)
c.1047C= (p.Ala349=)
c.1019C= (p.Pro340=)
n.1051C=
c.426C= (p.Ala142=)
c.915C= (p.Ala305=)
c.512C= (p.Pro171=)
c.261C= (p.Ala87=)
c.319+2020C=
c.1145C= (p.Pro382=)
11g.71435792G>TCA381702439DHCR7c.1011C>A (p.Ala337=)
c.837C>A (p.Ala279=)
c.1062C>A (p.Ala354=)
c.1047C>A (p.Ala349=)
c.1019C>A (p.Pro340Gln)
n.1051C>A
c.426C>A (p.Ala142=)
c.915C>A (p.Ala305=)
c.512C>A (p.Pro171Gln)
c.261C>A (p.Ala87=)
c.319+2020C>A
c.1145C>A (p.Pro382Gln)
11g.71435793G>ACA381702444DHCR7c.1010C>T (p.Ala337Val)
c.836C>T (p.Ala279Val)
c.1061C>T (p.Ala354Val)
c.1046C>T (p.Ala349Val)
c.1018C>T (p.Pro340Ser)
n.1050C>T
c.425C>T (p.Ala142Val)
c.914C>T (p.Ala305Val)
c.511C>T (p.Pro171Ser)
c.260C>T (p.Ala87Val)
c.319+2019C>T
c.1144C>T (p.Pro382Ser)
11g.71435793G>CCA381702447DHCR7c.1010C>G (p.Ala337Gly)
c.836C>G (p.Ala279Gly)
c.1061C>G (p.Ala354Gly)
c.1046C>G (p.Ala349Gly)
c.1018C>G (p.Pro340Ala)
n.1050C>G
c.425C>G (p.Ala142Gly)
c.914C>G (p.Ala305Gly)
c.511C>G (p.Pro171Ala)
c.260C>G (p.Ala87Gly)
c.319+2019C>G
c.1144C>G (p.Pro382Ala)
11g.71435793G>TCA381702448DHCR7c.1010C>A (p.Ala337Asp)
c.836C>A (p.Ala279Asp)
c.1061C>A (p.Ala354Asp)
c.1046C>A (p.Ala349Asp)
c.1018C>A (p.Pro340Thr)
n.1050C>A
c.425C>A (p.Ala142Asp)
c.914C>A (p.Ala305Asp)
c.511C>A (p.Pro171Thr)
c.260C>A (p.Ala87Asp)
c.319+2019C>A
c.1144C>A (p.Pro382Thr)
11g.71435794C>ACA381702450DHCR7c.1009G>T (p.Ala337Ser)
c.835G>T (p.Ala279Ser)
c.1060G>T (p.Ala354Ser)
c.1045G>T (p.Ala349Ser)
c.1017G>T (p.Thr339=)
n.1049G>T
c.424G>T (p.Ala142Ser)
c.913G>T (p.Ala305Ser)
c.510G>T (p.Thr170=)
c.259G>T (p.Ala87Ser)
c.319+2018G>T
c.1143G>T (p.Thr381=)
11g.71435794C=CA1981487025DHCR7c.1009G= (p.Ala337=)
c.835G= (p.Ala279=)
c.1060G= (p.Ala354=)
c.1045G= (p.Ala349=)
c.1017G= (p.Thr339=)
n.1049G=
c.424G= (p.Ala142=)
c.913G= (p.Ala305=)
c.510G= (p.Thr170=)
c.259G= (p.Ala87=)
c.319+2018G=
c.1143G= (p.Thr381=)
11g.71435794C>GCA381702451DHCR7c.1009G>C (p.Ala337Pro)
c.835G>C (p.Ala279Pro)
c.1060G>C (p.Ala354Pro)
c.1045G>C (p.Ala349Pro)
c.1017G>C (p.Thr339=)
n.1049G>C
c.424G>C (p.Ala142Pro)
c.913G>C (p.Ala305Pro)
c.510G>C (p.Thr170=)
c.259G>C (p.Ala87Pro)
c.319+2018G>C
c.1143G>C (p.Thr381=)
11g.71435794C>TCA6162335DHCR7c.1009G>A (p.Ala337Thr)
c.835G>A (p.Ala279Thr)
c.1060G>A (p.Ala354Thr)
c.1045G>A (p.Ala349Thr)
c.1017G>A (p.Thr339=)
n.1049G>A
c.424G>A (p.Ala142Thr)
c.913G>A (p.Ala305Thr)
c.510G>A (p.Thr170=)
c.259G>A (p.Ala87Thr)
c.319+2018G>A
c.1143G>A (p.Thr381=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435795G>ACA179966DHCR7c.1008C>T (p.His336=)
c.834C>T (p.His278=)
c.1059C>T (p.His353=)
c.1044C>T (p.His348=)
c.1016C>T (p.Thr339Met)
n.1048C>T
c.423C>T (p.His141=)
c.912C>T (p.His304=)
c.509C>T (p.Thr170Met)
c.258C>T (p.His86=)
c.319+2017C>T
c.1142C>T (p.Thr381Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435795G>CCA381702453DHCR7c.1008C>G (p.His336Gln)
c.834C>G (p.His278Gln)
c.1059C>G (p.His353Gln)
c.1044C>G (p.His348Gln)
c.1016C>G (p.Thr339Arg)
n.1048C>G
c.423C>G (p.His141Gln)
c.912C>G (p.His304Gln)
c.509C>G (p.Thr170Arg)
c.258C>G (p.His86Gln)
c.319+2017C>G
c.1142C>G (p.Thr381Arg)
11g.71435795G=CA1981487026DHCR7c.1008C= (p.His336=)
c.834C= (p.His278=)
c.1059C= (p.His353=)
c.1044C= (p.His348=)
c.1016C= (p.Thr339=)
n.1048C=
c.423C= (p.His141=)
c.912C= (p.His304=)
c.509C= (p.Thr170=)
c.258C= (p.His86=)
c.319+2017C=
c.1142C= (p.Thr381=)
11g.71435795G>TCA381702452DHCR7c.1008C>A (p.His336Gln)
c.834C>A (p.His278Gln)
c.1059C>A (p.His353Gln)
c.1044C>A (p.His348Gln)
c.1016C>A (p.Thr339Lys)
n.1048C>A
c.423C>A (p.His141Gln)
c.912C>A (p.His304Gln)
c.509C>A (p.Thr170Lys)
c.258C>A (p.His86Gln)
c.319+2017C>A
c.1142C>A (p.Thr381Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.71435796T>ACA381702454DHCR7c.1007A>T (p.His336Leu)
c.833A>T (p.His278Leu)
c.1058A>T (p.His353Leu)
c.1043A>T (p.His348Leu)
c.1015A>T (p.Thr339Ser)
n.1047A>T
c.422A>T (p.His141Leu)
c.911A>T (p.His304Leu)
c.508A>T (p.Thr170Ser)
c.257A>T (p.His86Leu)
c.319+2016A>T
c.1141A>T (p.Thr381Ser)
11g.71435796T>CCA381702455DHCR7c.1007A>G (p.His336Arg)
c.833A>G (p.His278Arg)
c.1058A>G (p.His353Arg)
c.1043A>G (p.His348Arg)
c.1015A>G (p.Thr339Ala)
n.1047A>G
c.422A>G (p.His141Arg)
c.911A>G (p.His304Arg)
c.508A>G (p.Thr170Ala)
c.257A>G (p.His86Arg)
c.319+2016A>G
c.1141A>G (p.Thr381Ala)
11g.71435796T>GCA381702456DHCR7c.1007A>C (p.His336Pro)
c.833A>C (p.His278Pro)
c.1058A>C (p.His353Pro)
c.1043A>C (p.His348Pro)
c.1015A>C (p.Thr339Pro)
n.1047A>C
c.422A>C (p.His141Pro)
c.911A>C (p.His304Pro)
c.508A>C (p.Thr170Pro)
c.257A>C (p.His86Pro)
c.319+2016A>C
c.1141A>C (p.Thr381Pro)
11g.71435797G>ACA381702457DHCR7c.1006C>T (p.His336Tyr)
c.832C>T (p.His278Tyr)
c.1057C>T (p.His353Tyr)
c.1042C>T (p.His348Tyr)
c.1014C>T (p.Arg338=)
n.1046C>T
c.421C>T (p.His141Tyr)
c.910C>T (p.His304Tyr)
c.507C>T (p.Arg169=)
c.256C>T (p.His86Tyr)
c.319+2015C>T
c.1140C>T (p.Arg380=)
11g.71435797G>CCA381702459DHCR7c.1006C>G (p.His336Asp)
c.832C>G (p.His278Asp)
c.1057C>G (p.His353Asp)
c.1042C>G (p.His348Asp)
c.1014C>G (p.Arg338=)
n.1046C>G
c.421C>G (p.His141Asp)
c.910C>G (p.His304Asp)
c.507C>G (p.Arg169=)
c.256C>G (p.His86Asp)
c.319+2015C>G
c.1140C>G (p.Arg380=)
11g.71435797G>TCA381702461DHCR7c.1006C>A (p.His336Asn)
c.832C>A (p.His278Asn)
c.1057C>A (p.His353Asn)
c.1042C>A (p.His348Asn)
c.1014C>A (p.Arg338=)
n.1046C>A
c.421C>A (p.His141Asn)
c.910C>A (p.His304Asn)
c.507C>A (p.Arg169=)
c.256C>A (p.His86Asn)
c.319+2015C>A
c.1140C>A (p.Arg380=)
 gnomAD v4
11g.71435798_71435799delCA912973037DHCR7c.1005_1006del (p.His336ArgfsTer?)
c.831_832del (p.His278ArgfsTer?)
c.1056_1057del (p.His353ArgfsTer?)
c.1041_1042del (p.His348ArgfsTer?)
c.1013_1014del (p.Arg338HisfsTer?)
n.1045_1046del
c.420_421del (p.His141ArgfsTer?)
c.909_910del (p.His304ArgfsTer?)
c.506_507del (p.Arg169HisfsTer?)
c.255_256del (p.His86ArgfsTer?)
c.319+2014_319+2015del
c.1139_1140del (p.Arg380HisfsTer?)
11g.71435797_71435813delCA2614857308DHCR7c.990_1006del (p.Gln331ArgfsTer?)
c.816_832del (p.Gln273ArgfsTer?)
c.1041_1057del (p.Gln348ArgfsTer?)
c.1026_1042del (p.Gln343ArgfsTer?)
c.998_1014del (p.Cys333TyrfsTer?)
n.1030_1046del
c.405_421del (p.Gln136ArgfsTer?)
c.894_910del (p.Gln299ArgfsTer?)
c.491_507del (p.Cys164TyrfsTer?)
c.240_256del (p.Gln81ArgfsTer?)
c.319+1999_319+2015del
c.1124_1140del (p.Cys375TyrfsTer?)
 gnomAD v4
11g.71435798C>ACA224324681DHCR7c.1005G>T (p.Pro335=)
c.831G>T (p.Pro277=)
c.1056G>T (p.Pro352=)
c.1041G>T (p.Pro347=)
c.1013G>T (p.Arg338Leu)
n.1045G>T
c.420G>T (p.Pro140=)
c.909G>T (p.Pro303=)
c.506G>T (p.Arg169Leu)
c.255G>T (p.Pro85=)
c.319+2014G>T
c.1139G>T (p.Arg380Leu)
 dbSNP gnomAD v4
11g.71435798C=CA1981487028DHCR7c.1005G= (p.Pro335=)
c.831G= (p.Pro277=)
c.1056G= (p.Pro352=)
c.1041G= (p.Pro347=)
c.1013G= (p.Arg338=)
n.1045G=
c.420G= (p.Pro140=)
c.909G= (p.Pro303=)
c.506G= (p.Arg169=)
c.255G= (p.Pro85=)
c.319+2014G=
c.1139G= (p.Arg380=)
11g.71435798C>GCA381702463DHCR7c.1005G>C (p.Pro335=)
c.831G>C (p.Pro277=)
c.1056G>C (p.Pro352=)
c.1041G>C (p.Pro347=)
c.1013G>C (p.Arg338Pro)
n.1045G>C
c.420G>C (p.Pro140=)
c.909G>C (p.Pro303=)
c.506G>C (p.Arg169Pro)
c.255G>C (p.Pro85=)
c.319+2014G>C
c.1139G>C (p.Arg380Pro)
 ClinVar dbSNP
11g.71435798C>TCA6162336DHCR7c.1005G>A (p.Pro335=)
c.831G>A (p.Pro277=)
c.1056G>A (p.Pro352=)
c.1041G>A (p.Pro347=)
c.1013G>A (p.Arg338His)
n.1045G>A
c.420G>A (p.Pro140=)
c.909G>A (p.Pro303=)
c.506G>A (p.Arg169His)
c.255G>A (p.Pro85=)
c.319+2014G>A
c.1139G>A (p.Arg380His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435798_71435799delinsCGCA1981487027DHCR7c.1004_1005delinsCG (p.Pro335=)
c.830_831delinsCG (p.Pro277=)
c.1055_1056delinsCG (p.Pro352=)
c.1040_1041delinsCG (p.Pro347=)
c.1012_1013delinsCG (p.Arg338=)
n.1044_1045delinsCG
c.419_420delinsCG (p.Pro140=)
c.908_909delinsCG (p.Pro303=)
c.505_506delinsCG (p.Arg169=)
c.254_255delinsCG (p.Pro85=)
c.319+2013_319+2014delinsCG
c.1138_1139delinsCG (p.Arg380=)
11g.71435799G>ACA6162337DHCR7c.1004C>T (p.Pro335Leu)
c.830C>T (p.Pro277Leu)
c.1055C>T (p.Pro352Leu)
c.1040C>T (p.Pro347Leu)
c.1012C>T (p.Arg338Cys)
n.1044C>T
c.419C>T (p.Pro140Leu)
c.908C>T (p.Pro303Leu)
c.505C>T (p.Arg169Cys)
c.254C>T (p.Pro85Leu)
c.319+2013C>T
c.1138C>T (p.Arg380Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435799G>CCA6162338DHCR7c.1004C>G (p.Pro335Arg)
c.830C>G (p.Pro277Arg)
c.1055C>G (p.Pro352Arg)
c.1040C>G (p.Pro347Arg)
c.1012C>G (p.Arg338Gly)
n.1044C>G
c.419C>G (p.Pro140Arg)
c.908C>G (p.Pro303Arg)
c.505C>G (p.Arg169Gly)
c.254C>G (p.Pro85Arg)
c.319+2013C>G
c.1138C>G (p.Arg380Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435799G=CA1981487029DHCR7c.1004C= (p.Pro335=)
c.830C= (p.Pro277=)
c.1055C= (p.Pro352=)
c.1040C= (p.Pro347=)
c.1012C= (p.Arg338=)
n.1044C=
c.419C= (p.Pro140=)
c.908C= (p.Pro303=)
c.505C= (p.Arg169=)
c.254C= (p.Pro85=)
c.319+2013C=
c.1138C= (p.Arg380=)
11g.71435799G>TCA381702468DHCR7c.1004C>A (p.Pro335Gln)
c.830C>A (p.Pro277Gln)
c.1055C>A (p.Pro352Gln)
c.1040C>A (p.Pro347Gln)
c.1012C>A (p.Arg338Ser)
n.1044C>A
c.419C>A (p.Pro140Gln)
c.908C>A (p.Pro303Gln)
c.505C>A (p.Arg169Ser)
c.254C>A (p.Pro85Gln)
c.319+2013C>A
c.1138C>A (p.Arg380Ser)
 dbSNP gnomAD v4
11g.71435802delCA658823153DHCR7c.1004del (p.Pro335ArgfsTer?)
c.830del (p.Pro277ArgfsTer?)
c.1055del (p.Pro352ArgfsTer?)
c.1040del (p.Pro347ArgfsTer?)
c.1012del (p.Arg338AlafsTer?)
n.1044del
c.419del (p.Pro140ArgfsTer?)
c.908del (p.Pro303ArgfsTer?)
c.505del (p.Arg169AlafsTer?)
c.254del (p.Pro85ArgfsTer?)
c.319+2013del
c.1138del (p.Arg380AlafsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435800G>ACA381702472DHCR7c.1003C>T (p.Pro335Ser)
c.829C>T (p.Pro277Ser)
c.1054C>T (p.Pro352Ser)
c.1039C>T (p.Pro347Ser)
c.1011C>T (p.Pro337=)
n.1043C>T
c.418C>T (p.Pro140Ser)
c.907C>T (p.Pro303Ser)
c.504C>T (p.Pro168=)
c.253C>T (p.Pro85Ser)
c.319+2012C>T
c.1137C>T (p.Pro379=)
 ClinVar dbSNP gnomAD v4
11g.71435800G>CCA381702469DHCR7c.1003C>G (p.Pro335Ala)
c.829C>G (p.Pro277Ala)
c.1054C>G (p.Pro352Ala)
c.1039C>G (p.Pro347Ala)
c.1011C>G (p.Pro337=)
n.1043C>G
c.418C>G (p.Pro140Ala)
c.907C>G (p.Pro303Ala)
c.504C>G (p.Pro168=)
c.253C>G (p.Pro85Ala)
c.319+2012C>G
c.1137C>G (p.Pro379=)
 dbSNP
11g.71435800G=CA1981487030DHCR7c.1003C= (p.Pro335=)
c.829C= (p.Pro277=)
c.1054C= (p.Pro352=)
c.1039C= (p.Pro347=)
c.1011C= (p.Pro337=)
n.1043C=
c.418C= (p.Pro140=)
c.907C= (p.Pro303=)
c.504C= (p.Pro168=)
c.253C= (p.Pro85=)
c.319+2012C=
c.1137C= (p.Pro379=)
11g.71435800G>TCA381702470DHCR7c.1003C>A (p.Pro335Thr)
c.829C>A (p.Pro277Thr)
c.1054C>A (p.Pro352Thr)
c.1039C>A (p.Pro347Thr)
c.1011C>A (p.Pro337=)
n.1043C>A
c.418C>A (p.Pro140Thr)
c.907C>A (p.Pro303Thr)
c.504C>A (p.Pro168=)
c.253C>A (p.Pro85Thr)
c.319+2012C>A
c.1137C>A (p.Pro379=)
 dbSNP
11g.71435801G>ACA381702474DHCR7c.1002C>T (p.Thr334=)
c.828C>T (p.Thr276=)
c.1053C>T (p.Thr351=)
c.1038C>T (p.Thr346=)
c.1010C>T (p.Pro337Leu)
n.1042C>T
c.417C>T (p.Thr139=)
c.906C>T (p.Thr302=)
c.503C>T (p.Pro168Leu)
c.252C>T (p.Thr84=)
c.319+2011C>T
c.1136C>T (p.Pro379Leu)
11g.71435801G>CCA381702476DHCR7c.1002C>G (p.Thr334=)
c.828C>G (p.Thr276=)
c.1053C>G (p.Thr351=)
c.1038C>G (p.Thr346=)
c.1010C>G (p.Pro337Arg)
n.1042C>G
c.417C>G (p.Thr139=)
c.906C>G (p.Thr302=)
c.503C>G (p.Pro168Arg)
c.252C>G (p.Thr84=)
c.319+2011C>G
c.1136C>G (p.Pro379Arg)
11g.71435801G=CA1981487031DHCR7c.1002C= (p.Thr334=)
c.828C= (p.Thr276=)
c.1053C= (p.Thr351=)
c.1038C= (p.Thr346=)
c.1010C= (p.Pro337=)
n.1042C=
c.417C= (p.Thr139=)
c.906C= (p.Thr302=)
c.503C= (p.Pro168=)
c.252C= (p.Thr84=)
c.319+2011C=
c.1136C= (p.Pro379=)
11g.71435801G>TCA6162339DHCR7c.1002C>A (p.Thr334=)
c.828C>A (p.Thr276=)
c.1053C>A (p.Thr351=)
c.1038C>A (p.Thr346=)
c.1010C>A (p.Pro337His)
n.1042C>A
c.417C>A (p.Thr139=)
c.906C>A (p.Thr302=)
c.503C>A (p.Pro168His)
c.252C>A (p.Thr84=)
c.319+2011C>A
c.1136C>A (p.Pro379His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435802G>ACA6162340DHCR7c.1001C>T (p.Thr334Ile)
c.827C>T (p.Thr276Ile)
c.1052C>T (p.Thr351Ile)
c.1037C>T (p.Thr346Ile)
c.1009C>T (p.Pro337Ser)
n.1041C>T
c.416C>T (p.Thr139Ile)
c.905C>T (p.Thr302Ile)
c.502C>T (p.Pro168Ser)
c.251C>T (p.Thr84Ile)
c.319+2010C>T
c.1135C>T (p.Pro379Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435802G>CCA381702482DHCR7c.1001C>G (p.Thr334Ser)
c.827C>G (p.Thr276Ser)
c.1052C>G (p.Thr351Ser)
c.1037C>G (p.Thr346Ser)
c.1009C>G (p.Pro337Ala)
n.1041C>G
c.416C>G (p.Thr139Ser)
c.905C>G (p.Thr302Ser)
c.502C>G (p.Pro168Ala)
c.251C>G (p.Thr84Ser)
c.319+2010C>G
c.1135C>G (p.Pro379Ala)
11g.71435802G=CA1981487032DHCR7c.1001C= (p.Thr334=)
c.827C= (p.Thr276=)
c.1052C= (p.Thr351=)
c.1037C= (p.Thr346=)
c.1009C= (p.Pro337=)
n.1041C=
c.416C= (p.Thr139=)
c.905C= (p.Thr302=)
c.502C= (p.Pro168=)
c.251C= (p.Thr84=)
c.319+2010C=
c.1135C= (p.Pro379=)
11g.71435802G>TCA224324727DHCR7c.1001C>A (p.Thr334Asn)
c.827C>A (p.Thr276Asn)
c.1052C>A (p.Thr351Asn)
c.1037C>A (p.Thr346Asn)
c.1009C>A (p.Pro337Thr)
n.1041C>A
c.416C>A (p.Thr139Asn)
c.905C>A (p.Thr302Asn)
c.502C>A (p.Pro168Thr)
c.251C>A (p.Thr84Asn)
c.319+2010C>A
c.1135C>A (p.Pro379Thr)
 dbSNP
11g.71435803T>ACA381702486DHCR7c.1000A>T (p.Thr334Ser)
c.826A>T (p.Thr276Ser)
c.1051A>T (p.Thr351Ser)
c.1036A>T (p.Thr346Ser)
c.1008A>T (p.Pro336=)
n.1040A>T
c.415A>T (p.Thr139Ser)
c.904A>T (p.Thr302Ser)
c.501A>T (p.Pro167=)
c.250A>T (p.Thr84Ser)
c.319+2009A>T
c.1134A>T (p.Pro378=)
 dbSNP gnomAD v3 gnomAD v4
11g.71435803T>CCA6162341DHCR7c.1000A>G (p.Thr334Ala)
c.826A>G (p.Thr276Ala)
c.1051A>G (p.Thr351Ala)
c.1036A>G (p.Thr346Ala)
c.1008A>G (p.Pro336=)
n.1040A>G
c.415A>G (p.Thr139Ala)
c.904A>G (p.Thr302Ala)
c.501A>G (p.Pro167=)
c.250A>G (p.Thr84Ala)
c.319+2009A>G
c.1134A>G (p.Pro378=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435803T>GCA381702484DHCR7c.1000A>C (p.Thr334Pro)
c.826A>C (p.Thr276Pro)
c.1051A>C (p.Thr351Pro)
c.1036A>C (p.Thr346Pro)
c.1008A>C (p.Pro336=)
n.1040A>C
c.415A>C (p.Thr139Pro)
c.904A>C (p.Thr302Pro)
c.501A>C (p.Pro167=)
c.250A>C (p.Thr84Pro)
c.319+2009A>C
c.1134A>C (p.Pro378=)
 dbSNP
11g.71435803T=CA1981487033DHCR7c.1000A= (p.Thr334=)
c.826A= (p.Thr276=)
c.1051A= (p.Thr351=)
c.1036A= (p.Thr346=)
c.1008A= (p.Pro336=)
n.1040A=
c.415A= (p.Thr139=)
c.904A= (p.Thr302=)
c.501A= (p.Pro167=)
c.250A= (p.Thr84=)
c.319+2009A=
c.1134A= (p.Pro378=)
11g.71435804G>ACA381702488DHCR7c.999C>T (p.Ser333=)
c.825C>T (p.Ser275=)
c.1050C>T (p.Ser350=)
c.1035C>T (p.Ser345=)
c.1007C>T (p.Pro336Leu)
n.1039C>T
c.414C>T (p.Ser138=)
c.903C>T (p.Ser301=)
c.500C>T (p.Pro167Leu)
c.249C>T (p.Ser83=)
c.319+2008C>T
c.1133C>T (p.Pro378Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435804G>CCA381702489DHCR7c.999C>G (p.Ser333=)
c.825C>G (p.Ser275=)
c.1050C>G (p.Ser350=)
c.1035C>G (p.Ser345=)
c.1007C>G (p.Pro336Arg)
n.1039C>G
c.414C>G (p.Ser138=)
c.903C>G (p.Ser301=)
c.500C>G (p.Pro167Arg)
c.249C>G (p.Ser83=)
c.319+2008C>G
c.1133C>G (p.Pro378Arg)
11g.71435804G=CA1981487034DHCR7c.999C= (p.Ser333=)
c.825C= (p.Ser275=)
c.1050C= (p.Ser350=)
c.1035C= (p.Ser345=)
c.1007C= (p.Pro336=)
n.1039C=
c.414C= (p.Ser138=)
c.903C= (p.Ser301=)
c.500C= (p.Pro167=)
c.249C= (p.Ser83=)
c.319+2008C=
c.1133C= (p.Pro378=)
11g.71435804G>TCA381702491DHCR7c.999C>A (p.Ser333=)
c.825C>A (p.Ser275=)
c.1050C>A (p.Ser350=)
c.1035C>A (p.Ser345=)
c.1007C>A (p.Pro336Gln)
n.1039C>A
c.414C>A (p.Ser138=)
c.903C>A (p.Ser301=)
c.500C>A (p.Pro167Gln)
c.249C>A (p.Ser83=)
c.319+2008C>A
c.1133C>A (p.Pro378Gln)
11g.71435805G>ACA381702494DHCR7c.998C>T (p.Ser333Phe)
c.824C>T (p.Ser275Phe)
c.1049C>T (p.Ser350Phe)
c.1034C>T (p.Ser345Phe)
c.1006C>T (p.Pro336Ser)
n.1038C>T
c.413C>T (p.Ser138Phe)
c.902C>T (p.Ser301Phe)
c.499C>T (p.Pro167Ser)
c.248C>T (p.Ser83Phe)
c.319+2007C>T
c.1132C>T (p.Pro378Ser)
 ClinVar dbSNP
11g.71435805G>CCA381702495DHCR7c.998C>G (p.Ser333Cys)
c.824C>G (p.Ser275Cys)
c.1049C>G (p.Ser350Cys)
c.1034C>G (p.Ser345Cys)
c.1006C>G (p.Pro336Ala)
n.1038C>G
c.413C>G (p.Ser138Cys)
c.902C>G (p.Ser301Cys)
c.499C>G (p.Pro167Ala)
c.248C>G (p.Ser83Cys)
c.319+2007C>G
c.1132C>G (p.Pro378Ala)
11g.71435805G=CA1981487035DHCR7c.998C= (p.Ser333=)
c.824C= (p.Ser275=)
c.1049C= (p.Ser350=)
c.1034C= (p.Ser345=)
c.1006C= (p.Pro336=)
n.1038C=
c.413C= (p.Ser138=)
c.902C= (p.Ser301=)
c.499C= (p.Pro167=)
c.248C= (p.Ser83=)
c.319+2007C=
c.1132C= (p.Pro378=)
11g.71435805G>TCA381702497DHCR7c.998C>A (p.Ser333Tyr)
c.824C>A (p.Ser275Tyr)
c.1049C>A (p.Ser350Tyr)
c.1034C>A (p.Ser345Tyr)
c.1006C>A (p.Pro336Thr)
n.1038C>A
c.413C>A (p.Ser138Tyr)
c.902C>A (p.Ser301Tyr)
c.499C>A (p.Pro167Thr)
c.248C>A (p.Ser83Tyr)
c.319+2007C>A
c.1132C>A (p.Pro378Thr)
11g.71435806A>CCA381702498DHCR7c.997T>G (p.Ser333Ala)
c.823T>G (p.Ser275Ala)
c.1048T>G (p.Ser350Ala)
c.1033T>G (p.Ser345Ala)
c.1005T>G (p.Cys335Trp)
n.1037T>G
c.412T>G (p.Ser138Ala)
c.901T>G (p.Ser301Ala)
c.498T>G (p.Cys166Trp)
c.247T>G (p.Ser83Ala)
c.319+2006T>G
c.1131T>G (p.Cys377Trp)
11g.71435806A>GCA381702500DHCR7c.997T>C (p.Ser333Pro)
c.823T>C (p.Ser275Pro)
c.1048T>C (p.Ser350Pro)
c.1033T>C (p.Ser345Pro)
c.1005T>C (p.Cys335=)
n.1037T>C
c.412T>C (p.Ser138Pro)
c.901T>C (p.Ser301Pro)
c.498T>C (p.Cys166=)
c.247T>C (p.Ser83Pro)
c.319+2006T>C
c.1131T>C (p.Cys377=)
11g.71435806A>TCA381702499DHCR7c.997T>A (p.Ser333Thr)
c.823T>A (p.Ser275Thr)
c.1048T>A (p.Ser350Thr)
c.1033T>A (p.Ser345Thr)
c.1005T>A (p.Cys335Ter)
n.1037T>A
c.412T>A (p.Ser138Thr)
c.901T>A (p.Ser301Thr)
c.498T>A (p.Cys166Ter)
c.247T>A (p.Ser83Thr)
c.319+2006T>A
c.1131T>A (p.Cys377Ter)
11g.71435807C>ACA381702501DHCR7c.996G>T (p.Leu332=)
c.822G>T (p.Leu274=)
c.1047G>T (p.Leu349=)
c.1032G>T (p.Leu344=)
c.1004G>T (p.Cys335Phe)
n.1036G>T
c.411G>T (p.Leu137=)
c.900G>T (p.Leu300=)
c.497G>T (p.Cys166Phe)
c.246G>T (p.Leu82=)
c.319+2005G>T
c.1130G>T (p.Cys377Phe)
11g.71435807C=CA1981487037DHCR7c.996G= (p.Leu332=)
c.822G= (p.Leu274=)
c.1047G= (p.Leu349=)
c.1032G= (p.Leu344=)
c.1004G= (p.Cys335=)
n.1036G=
c.411G= (p.Leu137=)
c.900G= (p.Leu300=)
c.497G= (p.Cys166=)
c.246G= (p.Leu82=)
c.319+2005G=
c.1130G= (p.Cys377=)
11g.71435807C>GCA381702502DHCR7c.996G>C (p.Leu332=)
c.822G>C (p.Leu274=)
c.1047G>C (p.Leu349=)
c.1032G>C (p.Leu344=)
c.1004G>C (p.Cys335Ser)
n.1036G>C
c.411G>C (p.Leu137=)
c.900G>C (p.Leu300=)
c.497G>C (p.Cys166Ser)
c.246G>C (p.Leu82=)
c.319+2005G>C
c.1130G>C (p.Cys377Ser)
 ClinVar
11g.71435807C>TCA381702503DHCR7c.996G>A (p.Leu332=)
c.822G>A (p.Leu274=)
c.1047G>A (p.Leu349=)
c.1032G>A (p.Leu344=)
c.1004G>A (p.Cys335Tyr)
n.1036G>A
c.411G>A (p.Leu137=)
c.900G>A (p.Leu300=)
c.497G>A (p.Cys166Tyr)
c.246G>A (p.Leu82=)
c.319+2005G>A
c.1130G>A (p.Cys377Tyr)
 ClinVar dbSNP gnomAD v4
11g.71435807_71435808delinsCACA1981487036DHCR7c.995_996delinsTG (p.Leu332=)
c.821_822delinsTG (p.Leu274=)
c.1046_1047delinsTG (p.Leu349=)
c.1031_1032delinsTG (p.Leu344=)
c.1003_1004delinsTG (p.Cys335=)
n.1035_1036delinsTG
c.410_411delinsTG (p.Leu137=)
c.899_900delinsTG (p.Leu300=)
c.496_497delinsTG (p.Cys166=)
c.245_246delinsTG (p.Leu82=)
c.319+2004_319+2005delinsTG
c.1129_1130delinsTG (p.Cys377=)
11g.71435808delCA16041547DHCR7c.995del (p.Leu332ArgfsTer?)
c.821del (p.Leu274ArgfsTer?)
c.1046del (p.Leu349ArgfsTer?)
c.1031del (p.Leu344ArgfsTer?)
c.1003del (p.Cys335ValfsTer?)
n.1035del
c.410del (p.Leu137ArgfsTer?)
c.899del (p.Leu300ArgfsTer?)
c.496del (p.Cys166ValfsTer?)
c.245del (p.Leu82ArgfsTer?)
c.319+2004del
c.1129del (p.Cys377ValfsTer?)
 ClinVar dbSNP
11g.71435808A>CCA381702504DHCR7c.995T>G (p.Leu332Arg)
c.821T>G (p.Leu274Arg)
c.1046T>G (p.Leu349Arg)
c.1031T>G (p.Leu344Arg)
c.1003T>G (p.Cys335Gly)
n.1035T>G
c.410T>G (p.Leu137Arg)
c.899T>G (p.Leu300Arg)
c.496T>G (p.Cys166Gly)
c.245T>G (p.Leu82Arg)
c.319+2004T>G
c.1129T>G (p.Cys377Gly)
11g.71435808A>GCA381702505DHCR7c.995T>C (p.Leu332Pro)
c.821T>C (p.Leu274Pro)
c.1046T>C (p.Leu349Pro)
c.1031T>C (p.Leu344Pro)
c.1003T>C (p.Cys335Arg)
n.1035T>C
c.410T>C (p.Leu137Pro)
c.899T>C (p.Leu300Pro)
c.496T>C (p.Cys166Arg)
c.245T>C (p.Leu82Pro)
c.319+2004T>C
c.1129T>C (p.Cys377Arg)
11g.71435808A>TCA381702506DHCR7c.995T>A (p.Leu332Gln)
c.821T>A (p.Leu274Gln)
c.1046T>A (p.Leu349Gln)
c.1031T>A (p.Leu344Gln)
c.1003T>A (p.Cys335Ser)
n.1035T>A
c.410T>A (p.Leu137Gln)
c.899T>A (p.Leu300Gln)
c.496T>A (p.Cys166Ser)
c.245T>A (p.Leu82Gln)
c.319+2004T>A
c.1129T>A (p.Cys377Ser)
11g.71435809G>ACA475860847DHCR7c.994C>T (p.Leu332=)
c.820C>T (p.Leu274=)
c.1045C>T (p.Leu349=)
c.1030C>T (p.Leu344=)
c.1002C>T (p.Ser334=)
n.1034C>T
c.409C>T (p.Leu137=)
c.898C>T (p.Leu300=)
c.495C>T (p.Ser165=)
c.244C>T (p.Leu82=)
c.319+2003C>T
c.1128C>T (p.Ser376=)
11g.71435809G>CCA381702507DHCR7c.994C>G (p.Leu332Val)
c.820C>G (p.Leu274Val)
c.1045C>G (p.Leu349Val)
c.1030C>G (p.Leu344Val)
c.1002C>G (p.Ser334Arg)
n.1034C>G
c.409C>G (p.Leu137Val)
c.898C>G (p.Leu300Val)
c.495C>G (p.Ser165Arg)
c.244C>G (p.Leu82Val)
c.319+2003C>G
c.1128C>G (p.Ser376Arg)
11g.71435809G>TCA381702508DHCR7c.994C>A (p.Leu332Met)
c.820C>A (p.Leu274Met)
c.1045C>A (p.Leu349Met)
c.1030C>A (p.Leu344Met)
c.1002C>A (p.Ser334Arg)
n.1034C>A
c.409C>A (p.Leu137Met)
c.898C>A (p.Leu300Met)
c.495C>A (p.Ser165Arg)
c.244C>A (p.Leu82Met)
c.319+2003C>A
c.1128C>A (p.Ser376Arg)
11g.71435810C>ACA381702510DHCR7c.993G>T (p.Gln331His)
c.819G>T (p.Gln273His)
c.1044G>T (p.Gln348His)
c.1029G>T (p.Gln343His)
c.1001G>T (p.Ser334Ile)
n.1033G>T
c.408G>T (p.Gln136His)
c.897G>T (p.Gln299His)
c.494G>T (p.Ser165Ile)
c.243G>T (p.Gln81His)
c.319+2002G>T
c.1127G>T (p.Ser376Ile)
 gnomAD v4
11g.71435810C>GCA381702512DHCR7c.993G>C (p.Gln331His)
c.819G>C (p.Gln273His)
c.1044G>C (p.Gln348His)
c.1029G>C (p.Gln343His)
c.1001G>C (p.Ser334Thr)
n.1033G>C
c.408G>C (p.Gln136His)
c.897G>C (p.Gln299His)
c.494G>C (p.Ser165Thr)
c.243G>C (p.Gln81His)
c.319+2002G>C
c.1127G>C (p.Ser376Thr)
11g.71435810C>TCA381702513DHCR7c.993G>A (p.Gln331=)
c.819G>A (p.Gln273=)
c.1044G>A (p.Gln348=)
c.1029G>A (p.Gln343=)
c.1001G>A (p.Ser334Asn)
n.1033G>A
c.408G>A (p.Gln136=)
c.897G>A (p.Gln299=)
c.494G>A (p.Ser165Asn)
c.243G>A (p.Gln81=)
c.319+2002G>A
c.1127G>A (p.Ser376Asn)
11g.71435811T>ACA381702514DHCR7c.992A>T (p.Gln331Leu)
c.818A>T (p.Gln273Leu)
c.1043A>T (p.Gln348Leu)
c.1028A>T (p.Gln343Leu)
c.1000A>T (p.Ser334Cys)
n.1032A>T
c.407A>T (p.Gln136Leu)
c.896A>T (p.Gln299Leu)
c.493A>T (p.Ser165Cys)
c.242A>T (p.Gln81Leu)
c.319+2001A>T
c.1126A>T (p.Ser376Cys)
11g.71435811T>CCA381702516DHCR7c.992A>G (p.Gln331Arg)
c.818A>G (p.Gln273Arg)
c.1043A>G (p.Gln348Arg)
c.1028A>G (p.Gln343Arg)
c.1000A>G (p.Ser334Gly)
n.1032A>G
c.407A>G (p.Gln136Arg)
c.896A>G (p.Gln299Arg)
c.493A>G (p.Ser165Gly)
c.242A>G (p.Gln81Arg)
c.319+2001A>G
c.1126A>G (p.Ser376Gly)
11g.71435811T>GCA381702515DHCR7c.992A>C (p.Gln331Pro)
c.818A>C (p.Gln273Pro)
c.1043A>C (p.Gln348Pro)
c.1028A>C (p.Gln343Pro)
c.1000A>C (p.Ser334Arg)
n.1032A>C
c.407A>C (p.Gln136Pro)
c.896A>C (p.Gln299Pro)
c.493A>C (p.Ser165Arg)
c.242A>C (p.Gln81Pro)
c.319+2001A>C
c.1126A>C (p.Ser376Arg)
11g.71435812G>ACA16041548DHCR7c.991C>T (p.Gln331Ter)
c.817C>T (p.Gln273Ter)
c.1042C>T (p.Gln348Ter)
c.1027C>T (p.Gln343Ter)
c.999C>T (p.Cys333=)
n.1031C>T
c.406C>T (p.Gln136Ter)
c.895C>T (p.Gln299Ter)
c.492C>T (p.Cys164=)
c.241C>T (p.Gln81Ter)
c.319+2000C>T
c.1125C>T (p.Cys375=)
 ClinVar dbSNP gnomAD v4
11g.71435812G>CCA381702517DHCR7c.991C>G (p.Gln331Glu)
c.817C>G (p.Gln273Glu)
c.1042C>G (p.Gln348Glu)
c.1027C>G (p.Gln343Glu)
c.999C>G (p.Cys333Trp)
n.1031C>G
c.406C>G (p.Gln136Glu)
c.895C>G (p.Gln299Glu)
c.492C>G (p.Cys164Trp)
c.241C>G (p.Gln81Glu)
c.319+2000C>G
c.1125C>G (p.Cys375Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435812G=CA1981487038DHCR7c.991C= (p.Gln331=)
c.817C= (p.Gln273=)
c.1042C= (p.Gln348=)
c.1027C= (p.Gln343=)
c.999C= (p.Cys333=)
n.1031C=
c.406C= (p.Gln136=)
c.895C= (p.Gln299=)
c.492C= (p.Cys164=)
c.241C= (p.Gln81=)
c.319+2000C=
c.1125C= (p.Cys375=)
11g.71435812G>TCA381702518DHCR7c.991C>A (p.Gln331Lys)
c.817C>A (p.Gln273Lys)
c.1042C>A (p.Gln348Lys)
c.1027C>A (p.Gln343Lys)
c.999C>A (p.Cys333Ter)
n.1031C>A
c.406C>A (p.Gln136Lys)
c.895C>A (p.Gln299Lys)
c.492C>A (p.Cys164Ter)
c.241C>A (p.Gln81Lys)
c.319+2000C>A
c.1125C>A (p.Cys375Ter)
11g.71435813C>ACA381702519DHCR7c.990G>T (p.Val330=)
c.816G>T (p.Val272=)
c.1041G>T (p.Val347=)
c.1026G>T (p.Val342=)
c.998G>T (p.Cys333Phe)
n.1030G>T
c.405G>T (p.Val135=)
c.894G>T (p.Val298=)
c.491G>T (p.Cys164Phe)
c.240G>T (p.Val80=)
c.319+1999G>T
c.1124G>T (p.Cys375Phe)
11g.71435813C>GCA381702520DHCR7c.990G>C (p.Val330=)
c.816G>C (p.Val272=)
c.1041G>C (p.Val347=)
c.1026G>C (p.Val342=)
c.998G>C (p.Cys333Ser)
n.1030G>C
c.405G>C (p.Val135=)
c.894G>C (p.Val298=)
c.491G>C (p.Cys164Ser)
c.240G>C (p.Val80=)
c.319+1999G>C
c.1124G>C (p.Cys375Ser)
11g.71435813C>TCA381702521DHCR7c.990G>A (p.Val330=)
c.816G>A (p.Val272=)
c.1041G>A (p.Val347=)
c.1026G>A (p.Val342=)
c.998G>A (p.Cys333Tyr)
n.1030G>A
c.405G>A (p.Val135=)
c.894G>A (p.Val298=)
c.491G>A (p.Cys164Tyr)
c.240G>A (p.Val80=)
c.319+1999G>A
c.1124G>A (p.Cys375Tyr)
 ClinVar dbSNP gnomAD v4
11g.71435814A>CCA381702522DHCR7c.989T>G (p.Val330Gly)
c.815T>G (p.Val272Gly)
c.1040T>G (p.Val347Gly)
c.1025T>G (p.Val342Gly)
c.997T>G (p.Cys333Gly)
n.1029T>G
c.404T>G (p.Val135Gly)
c.893T>G (p.Val298Gly)
c.490T>G (p.Cys164Gly)
c.239T>G (p.Val80Gly)
c.319+1998T>G
c.1123T>G (p.Cys375Gly)
11g.71435814A>GCA381702523DHCR7c.989T>C (p.Val330Ala)
c.815T>C (p.Val272Ala)
c.1040T>C (p.Val347Ala)
c.1025T>C (p.Val342Ala)
c.997T>C (p.Cys333Arg)
n.1029T>C
c.404T>C (p.Val135Ala)
c.893T>C (p.Val298Ala)
c.490T>C (p.Cys164Arg)
c.239T>C (p.Val80Ala)
c.319+1998T>C
c.1123T>C (p.Cys375Arg)
11g.71435814A>TCA381702524DHCR7c.989T>A (p.Val330Glu)
c.815T>A (p.Val272Glu)
c.1040T>A (p.Val347Glu)
c.1025T>A (p.Val342Glu)
c.997T>A (p.Cys333Ser)
n.1029T>A
c.404T>A (p.Val135Glu)
c.893T>A (p.Val298Glu)
c.490T>A (p.Cys164Ser)
c.239T>A (p.Val80Glu)
c.319+1998T>A
c.1123T>A (p.Cys375Ser)
11g.71435815C>ACA381702525DHCR7c.988G>T (p.Val330Leu)
c.814G>T (p.Val272Leu)
c.1039G>T (p.Val347Leu)
c.1024G>T (p.Val342Leu)
c.996G>T (p.Pro332=)
n.1028G>T
c.403G>T (p.Val135Leu)
c.892G>T (p.Val298Leu)
c.489G>T (p.Pro163=)
c.238G>T (p.Val80Leu)
c.319+1997G>T
c.1122G>T (p.Pro374=)
11g.71435815C=CA1981487039DHCR7c.988G= (p.Val330=)
c.814G= (p.Val272=)
c.1039G= (p.Val347=)
c.1024G= (p.Val342=)
c.996G= (p.Pro332=)
n.1028G=
c.403G= (p.Val135=)
c.892G= (p.Val298=)
c.489G= (p.Pro163=)
c.238G= (p.Val80=)
c.319+1997G=
c.1122G= (p.Pro374=)
11g.71435815C>GCA6162343DHCR7c.988G>C (p.Val330Leu)
c.814G>C (p.Val272Leu)
c.1039G>C (p.Val347Leu)
c.1024G>C (p.Val342Leu)
c.996G>C (p.Pro332=)
n.1028G>C
c.403G>C (p.Val135Leu)
c.892G>C (p.Val298Leu)
c.489G>C (p.Pro163=)
c.238G>C (p.Val80Leu)
c.319+1997G>C
c.1122G>C (p.Pro374=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435815C>TCA6162342DHCR7c.988G>A (p.Val330Met)
c.814G>A (p.Val272Met)
c.1039G>A (p.Val347Met)
c.1024G>A (p.Val342Met)
c.996G>A (p.Pro332=)
n.1028G>A
c.403G>A (p.Val135Met)
c.892G>A (p.Val298Met)
c.489G>A (p.Pro163=)
c.238G>A (p.Val80Met)
c.319+1997G>A
c.1122G>A (p.Pro374=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435816G>ACA6162344DHCR7c.987C>T (p.Pro329=)
c.813C>T (p.Pro271=)
c.1038C>T (p.Pro346=)
c.1023C>T (p.Pro341=)
c.995C>T (p.Pro332Leu)
n.1027C>T
c.402C>T (p.Pro134=)
c.891C>T (p.Pro297=)
c.488C>T (p.Pro163Leu)
c.237C>T (p.Pro79=)
c.319+1996C>T
c.1121C>T (p.Pro374Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435816G>CCA381702528DHCR7c.987C>G (p.Pro329=)
c.813C>G (p.Pro271=)
c.1038C>G (p.Pro346=)
c.1023C>G (p.Pro341=)
c.995C>G (p.Pro332Arg)
n.1027C>G
c.402C>G (p.Pro134=)
c.891C>G (p.Pro297=)
c.488C>G (p.Pro163Arg)
c.237C>G (p.Pro79=)
c.319+1996C>G
c.1121C>G (p.Pro374Arg)
 ClinVar dbSNP
11g.71435816G=CA1981487040DHCR7c.987C= (p.Pro329=)
c.813C= (p.Pro271=)
c.1038C= (p.Pro346=)
c.1023C= (p.Pro341=)
c.995C= (p.Pro332=)
n.1027C=
c.402C= (p.Pro134=)
c.891C= (p.Pro297=)
c.488C= (p.Pro163=)
c.237C= (p.Pro79=)
c.319+1996C=
c.1121C= (p.Pro374=)
11g.71435816G>TCA381702527DHCR7c.987C>A (p.Pro329=)
c.813C>A (p.Pro271=)
c.1038C>A (p.Pro346=)
c.1023C>A (p.Pro341=)
c.995C>A (p.Pro332Gln)
n.1027C>A
c.402C>A (p.Pro134=)
c.891C>A (p.Pro297=)
c.488C>A (p.Pro163Gln)
c.237C>A (p.Pro79=)
c.319+1996C>A
c.1121C>A (p.Pro374Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435817G>ACA381702529DHCR7c.986C>T (p.Pro329Leu)
c.812C>T (p.Pro271Leu)
c.1037C>T (p.Pro346Leu)
c.1022C>T (p.Pro341Leu)
c.994C>T (p.Pro332Ser)
n.1026C>T
c.401C>T (p.Pro134Leu)
c.890C>T (p.Pro297Leu)
c.487C>T (p.Pro163Ser)
c.236C>T (p.Pro79Leu)
c.319+1995C>T
c.1120C>T (p.Pro374Ser)
 ClinVar COSMIC COSMIC
11g.71435817G>CCA381702530DHCR7c.986C>G (p.Pro329Arg)
c.812C>G (p.Pro271Arg)
c.1037C>G (p.Pro346Arg)
c.1022C>G (p.Pro341Arg)
c.994C>G (p.Pro332Ala)
n.1026C>G
c.401C>G (p.Pro134Arg)
c.890C>G (p.Pro297Arg)
c.487C>G (p.Pro163Ala)
c.236C>G (p.Pro79Arg)
c.319+1995C>G
c.1120C>G (p.Pro374Ala)
11g.71435817G>TCA381702531DHCR7c.986C>A (p.Pro329His)
c.812C>A (p.Pro271His)
c.1037C>A (p.Pro346His)
c.1022C>A (p.Pro341His)
c.994C>A (p.Pro332Thr)
n.1026C>A
c.401C>A (p.Pro134His)
c.890C>A (p.Pro297His)
c.487C>A (p.Pro163Thr)
c.236C>A (p.Pro79His)
c.319+1995C>A
c.1120C>A (p.Pro374Thr)
 gnomAD v4
11g.71435818G>ACA381702532DHCR7c.985C>T (p.Pro329Ser)
c.811C>T (p.Pro271Ser)
c.1036C>T (p.Pro346Ser)
c.1021C>T (p.Pro341Ser)
c.993C>T (p.Thr331=)
n.1025C>T
c.400C>T (p.Pro134Ser)
c.889C>T (p.Pro297Ser)
c.486C>T (p.Thr162=)
c.235C>T (p.Pro79Ser)
c.319+1994C>T
c.1119C>T (p.Thr373=)
 dbSNP gnomAD v2 gnomAD v4
11g.71435818G>CCA381702533DHCR7c.985C>G (p.Pro329Ala)
c.811C>G (p.Pro271Ala)
c.1036C>G (p.Pro346Ala)
c.1021C>G (p.Pro341Ala)
c.993C>G (p.Thr331=)
n.1025C>G
c.400C>G (p.Pro134Ala)
c.889C>G (p.Pro297Ala)
c.486C>G (p.Thr162=)
c.235C>G (p.Pro79Ala)
c.319+1994C>G
c.1119C>G (p.Thr373=)
 dbSNP
11g.71435818G=CA1981487041DHCR7c.985C= (p.Pro329=)
c.811C= (p.Pro271=)
c.1036C= (p.Pro346=)
c.1021C= (p.Pro341=)
c.993C= (p.Thr331=)
n.1025C=
c.400C= (p.Pro134=)
c.889C= (p.Pro297=)
c.486C= (p.Thr162=)
c.235C= (p.Pro79=)
c.319+1994C=
c.1119C= (p.Thr373=)
11g.71435818G>TCA381702534DHCR7c.985C>A (p.Pro329Thr)
c.811C>A (p.Pro271Thr)
c.1036C>A (p.Pro346Thr)
c.1021C>A (p.Pro341Thr)
c.993C>A (p.Thr331=)
n.1025C>A
c.400C>A (p.Pro134Thr)
c.889C>A (p.Pro297Thr)
c.486C>A (p.Thr162=)
c.235C>A (p.Pro79Thr)
c.319+1994C>A
c.1119C>A (p.Thr373=)
 gnomAD v4
11g.71435819G>ACA381702535DHCR7c.984C>T (p.His328=)
c.810C>T (p.His270=)
c.1035C>T (p.His345=)
c.1020C>T (p.His340=)
c.992C>T (p.Thr331Ile)
n.1024C>T
c.399C>T (p.His133=)
c.888C>T (p.His296=)
c.485C>T (p.Thr162Ile)
c.234C>T (p.His78=)
c.319+1993C>T
c.1118C>T (p.Thr373Ile)
 dbSNP gnomAD v4
11g.71435819G>CCA381702536DHCR7c.984C>G (p.His328Gln)
c.810C>G (p.His270Gln)
c.1035C>G (p.His345Gln)
c.1020C>G (p.His340Gln)
c.992C>G (p.Thr331Ser)
n.1024C>G
c.399C>G (p.His133Gln)
c.888C>G (p.His296Gln)
c.485C>G (p.Thr162Ser)
c.234C>G (p.His78Gln)
c.319+1993C>G
c.1118C>G (p.Thr373Ser)
11g.71435819G=CA1981487042DHCR7c.984C= (p.His328=)
c.810C= (p.His270=)
c.1035C= (p.His345=)
c.1020C= (p.His340=)
c.992C= (p.Thr331=)
n.1024C=
c.399C= (p.His133=)
c.888C= (p.His296=)
c.485C= (p.Thr162=)
c.234C= (p.His78=)
c.319+1993C=
c.1118C= (p.Thr373=)
11g.71435819G>TCA381702537DHCR7c.984C>A (p.His328Gln)
c.810C>A (p.His270Gln)
c.1035C>A (p.His345Gln)
c.1020C>A (p.His340Gln)
c.992C>A (p.Thr331Asn)
n.1024C>A
c.399C>A (p.His133Gln)
c.888C>A (p.His296Gln)
c.485C>A (p.Thr162Asn)
c.234C>A (p.His78Gln)
c.319+1993C>A
c.1118C>A (p.Thr373Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.71435820T>ACA381702538DHCR7c.983A>T (p.His328Leu)
c.809A>T (p.His270Leu)
c.1034A>T (p.His345Leu)
c.1019A>T (p.His340Leu)
c.991A>T (p.Thr331Ser)
n.1023A>T
c.398A>T (p.His133Leu)
c.887A>T (p.His296Leu)
c.484A>T (p.Thr162Ser)
c.233A>T (p.His78Leu)
c.319+1992A>T
c.1117A>T (p.Thr373Ser)
11g.71435820T>CCA381702539DHCR7c.983A>G (p.His328Arg)
c.809A>G (p.His270Arg)
c.1034A>G (p.His345Arg)
c.1019A>G (p.His340Arg)
c.991A>G (p.Thr331Ala)
n.1023A>G
c.398A>G (p.His133Arg)
c.887A>G (p.His296Arg)
c.484A>G (p.Thr162Ala)
c.233A>G (p.His78Arg)
c.319+1992A>G
c.1117A>G (p.Thr373Ala)
11g.71435820T>GCA381702540DHCR7c.983A>C (p.His328Pro)
c.809A>C (p.His270Pro)
c.1034A>C (p.His345Pro)
c.1019A>C (p.His340Pro)
c.991A>C (p.Thr331Pro)
n.1023A>C
c.398A>C (p.His133Pro)
c.887A>C (p.His296Pro)
c.484A>C (p.Thr162Pro)
c.233A>C (p.His78Pro)
c.319+1992A>C
c.1117A>C (p.Thr373Pro)
 dbSNP
11g.71435820T=CA1981487043DHCR7c.983A= (p.His328=)
c.809A= (p.His270=)
c.1034A= (p.His345=)
c.1019A= (p.His340=)
c.991A= (p.Thr331=)
n.1023A=
c.398A= (p.His133=)
c.887A= (p.His296=)
c.484A= (p.Thr162=)
c.233A= (p.His78=)
c.319+1992A=
c.1117A= (p.Thr373=)
11g.71435821G>ACA381702541DHCR7c.982C>T (p.His328Tyr)
c.808C>T (p.His270Tyr)
c.1033C>T (p.His345Tyr)
c.1018C>T (p.His340Tyr)
c.990C>T (p.Thr330=)
n.1022C>T
c.397C>T (p.His133Tyr)
c.886C>T (p.His296Tyr)
c.483C>T (p.Thr161=)
c.232C>T (p.His78Tyr)
c.319+1991C>T
c.1116C>T (p.Thr372=)
11g.71435821G>CCA6162345DHCR7c.982C>G (p.His328Asp)
c.808C>G (p.His270Asp)
c.1033C>G (p.His345Asp)
c.1018C>G (p.His340Asp)
c.990C>G (p.Thr330=)
n.1022C>G
c.397C>G (p.His133Asp)
c.886C>G (p.His296Asp)
c.483C>G (p.Thr161=)
c.232C>G (p.His78Asp)
c.319+1991C>G
c.1116C>G (p.Thr372=)
 dbSNP ExAC gnomAD v2
11g.71435821G=CA1981487044DHCR7c.982C= (p.His328=)
c.808C= (p.His270=)
c.1033C= (p.His345=)
c.1018C= (p.His340=)
c.990C= (p.Thr330=)
n.1022C=
c.397C= (p.His133=)
c.886C= (p.His296=)
c.483C= (p.Thr161=)
c.232C= (p.His78=)
c.319+1991C=
c.1116C= (p.Thr372=)
11g.71435821G>TCA381702542DHCR7c.982C>A (p.His328Asn)
c.808C>A (p.His270Asn)
c.1033C>A (p.His345Asn)
c.1018C>A (p.His340Asn)
c.990C>A (p.Thr330=)
n.1022C>A
c.397C>A (p.His133Asn)
c.886C>A (p.His296Asn)
c.483C>A (p.Thr161=)
c.232C>A (p.His78Asn)
c.319+1991C>A
c.1116C>A (p.Thr372=)
 gnomAD v4
11g.71435822G>ACA381702543DHCR7c.981C>T (p.Tyr327=)
c.807C>T (p.Tyr269=)
c.1032C>T (p.Tyr344=)
c.1017C>T (p.Tyr339=)
c.989C>T (p.Thr330Ile)
n.1021C>T
c.396C>T (p.Tyr132=)
c.885C>T (p.Tyr295=)
c.482C>T (p.Thr161Ile)
c.231C>T (p.Tyr77=)
c.319+1990C>T
c.1115C>T (p.Thr372Ile)
11g.71435822G>CCA381702544DHCR7c.981C>G (p.Tyr327Ter)
c.807C>G (p.Tyr269Ter)
c.1032C>G (p.Tyr344Ter)
c.1017C>G (p.Tyr339Ter)
c.989C>G (p.Thr330Ser)
n.1021C>G
c.396C>G (p.Tyr132Ter)
c.885C>G (p.Tyr295Ter)
c.482C>G (p.Thr161Ser)
c.231C>G (p.Tyr77Ter)
c.319+1990C>G
c.1115C>G (p.Thr372Ser)
11g.71435822G=CA1981487045DHCR7c.981C= (p.Tyr327=)
c.807C= (p.Tyr269=)
c.1032C= (p.Tyr344=)
c.1017C= (p.Tyr339=)
c.989C= (p.Thr330=)
n.1021C=
c.396C= (p.Tyr132=)
c.885C= (p.Tyr295=)
c.482C= (p.Thr161=)
c.231C= (p.Tyr77=)
c.319+1990C=
c.1115C= (p.Thr372=)
11g.71435822G>TCA16041549DHCR7c.981C>A (p.Tyr327Ter)
c.807C>A (p.Tyr269Ter)
c.1032C>A (p.Tyr344Ter)
c.1017C>A (p.Tyr339Ter)
c.989C>A (p.Thr330Asn)
n.1021C>A
c.396C>A (p.Tyr132Ter)
c.885C>A (p.Tyr295Ter)
c.482C>A (p.Thr161Asn)
c.231C>A (p.Tyr77Ter)
c.319+1990C>A
c.1115C>A (p.Thr372Asn)
 ClinVar dbSNP
11g.71435823T>ACA381702545DHCR7c.980A>T (p.Tyr327Phe)
c.806A>T (p.Tyr269Phe)
c.1031A>T (p.Tyr344Phe)
c.1016A>T (p.Tyr339Phe)
c.988A>T (p.Thr330Ser)
n.1020A>T
c.395A>T (p.Tyr132Phe)
c.884A>T (p.Tyr295Phe)
c.481A>T (p.Thr161Ser)
c.230A>T (p.Tyr77Phe)
c.319+1989A>T
c.1114A>T (p.Thr372Ser)
11g.71435823T>CCA381702546DHCR7c.980A>G (p.Tyr327Cys)
c.806A>G (p.Tyr269Cys)
c.1031A>G (p.Tyr344Cys)
c.1016A>G (p.Tyr339Cys)
c.988A>G (p.Thr330Ala)
n.1020A>G
c.395A>G (p.Tyr132Cys)
c.884A>G (p.Tyr295Cys)
c.481A>G (p.Thr161Ala)
c.230A>G (p.Tyr77Cys)
c.319+1989A>G
c.1114A>G (p.Thr372Ala)
11g.71435823T>GCA381702547DHCR7c.980A>C (p.Tyr327Ser)
c.806A>C (p.Tyr269Ser)
c.1031A>C (p.Tyr344Ser)
c.1016A>C (p.Tyr339Ser)
c.988A>C (p.Thr330Pro)
n.1020A>C
c.395A>C (p.Tyr132Ser)
c.884A>C (p.Tyr295Ser)
c.481A>C (p.Thr161Pro)
c.230A>C (p.Tyr77Ser)
c.319+1989A>C
c.1114A>C (p.Thr372Pro)
11g.71435824A>CCA381702548DHCR7c.979T>G (p.Tyr327Asp)
c.805T>G (p.Tyr269Asp)
c.1030T>G (p.Tyr344Asp)
c.1015T>G (p.Tyr339Asp)
c.987T>G (p.Cys329Trp)
n.1019T>G
c.394T>G (p.Tyr132Asp)
c.883T>G (p.Tyr295Asp)
c.480T>G (p.Cys160Trp)
c.229T>G (p.Tyr77Asp)
c.319+1988T>G
c.1113T>G (p.Cys371Trp)
11g.71435824A>GCA381702549DHCR7c.979T>C (p.Tyr327His)
c.805T>C (p.Tyr269His)
c.1030T>C (p.Tyr344His)
c.1015T>C (p.Tyr339His)
c.987T>C (p.Cys329=)
n.1019T>C
c.394T>C (p.Tyr132His)
c.883T>C (p.Tyr295His)
c.480T>C (p.Cys160=)
c.229T>C (p.Tyr77His)
c.319+1988T>C
c.1113T>C (p.Cys371=)
 gnomAD v4
11g.71435824A>TCA381702550DHCR7c.979T>A (p.Tyr327Asn)
c.805T>A (p.Tyr269Asn)
c.1030T>A (p.Tyr344Asn)
c.1015T>A (p.Tyr339Asn)
c.987T>A (p.Cys329Ter)
n.1019T>A
c.394T>A (p.Tyr132Asn)
c.883T>A (p.Tyr295Asn)
c.480T>A (p.Cys160Ter)
c.229T>A (p.Tyr77Asn)
c.319+1988T>A
c.1113T>A (p.Cys371Ter)
11g.71435825C>ACA381702551DHCR7c.978G>T (p.Val326=)
c.804G>T (p.Val268=)
c.1029G>T (p.Val343=)
c.1014G>T (p.Val338=)
c.986G>T (p.Cys329Phe)
n.1018G>T
c.393G>T (p.Val131=)
c.882G>T (p.Val294=)
c.479G>T (p.Cys160Phe)
c.228G>T (p.Val76=)
c.319+1987G>T
c.1112G>T (p.Cys371Phe)
11g.71435825C>GCA381702552DHCR7c.978G>C (p.Val326=)
c.804G>C (p.Val268=)
c.1029G>C (p.Val343=)
c.1014G>C (p.Val338=)
c.986G>C (p.Cys329Ser)
n.1018G>C
c.393G>C (p.Val131=)
c.882G>C (p.Val294=)
c.479G>C (p.Cys160Ser)
c.228G>C (p.Val76=)
c.319+1987G>C
c.1112G>C (p.Cys371Ser)
11g.71435825C>TCA381702553DHCR7c.978G>A (p.Val326=)
c.804G>A (p.Val268=)
c.1029G>A (p.Val343=)
c.1014G>A (p.Val338=)
c.986G>A (p.Cys329Tyr)
n.1018G>A
c.393G>A (p.Val131=)
c.882G>A (p.Val294=)
c.479G>A (p.Cys160Tyr)
c.228G>A (p.Val76=)
c.319+1987G>A
c.1112G>A (p.Cys371Tyr)
 ClinVar
11g.71435826A=CA1981487046DHCR7c.977T= (p.Val326=)
c.803T= (p.Val268=)
c.1028T= (p.Val343=)
c.1013T= (p.Val338=)
c.985T= (p.Cys329=)
n.1017T=
c.392T= (p.Val131=)
c.881T= (p.Val294=)
c.478T= (p.Cys160=)
c.227T= (p.Val76=)
c.319+1986T=
c.1111T= (p.Cys371=)
11g.71435826A>CCA381702554DHCR7c.977T>G (p.Val326Gly)
c.803T>G (p.Val268Gly)
c.1028T>G (p.Val343Gly)
c.1013T>G (p.Val338Gly)
c.985T>G (p.Cys329Gly)
n.1017T>G
c.392T>G (p.Val131Gly)
c.881T>G (p.Val294Gly)
c.478T>G (p.Cys160Gly)
c.227T>G (p.Val76Gly)
c.319+1986T>G
c.1111T>G (p.Cys371Gly)
 ClinVar dbSNP
11g.71435826A>GCA381702555DHCR7c.977T>C (p.Val326Ala)
c.803T>C (p.Val268Ala)
c.1028T>C (p.Val343Ala)
c.1013T>C (p.Val338Ala)
c.985T>C (p.Cys329Arg)
n.1017T>C
c.392T>C (p.Val131Ala)
c.881T>C (p.Val294Ala)
c.478T>C (p.Cys160Arg)
c.227T>C (p.Val76Ala)
c.319+1986T>C
c.1111T>C (p.Cys371Arg)
 dbSNP gnomAD v4
11g.71435826A>TCA381702556DHCR7c.977T>A (p.Val326Glu)
c.803T>A (p.Val268Glu)
c.1028T>A (p.Val343Glu)
c.1013T>A (p.Val338Glu)
c.985T>A (p.Cys329Ser)
n.1017T>A
c.392T>A (p.Val131Glu)
c.881T>A (p.Val294Glu)
c.478T>A (p.Cys160Ser)
c.227T>A (p.Val76Glu)
c.319+1986T>A
c.1111T>A (p.Cys371Ser)
11g.71435827C>ACA340609DHCR7c.976G>T (p.Val326Leu)
c.802G>T (p.Val268Leu)
c.1027G>T (p.Val343Leu)
c.1012G>T (p.Val338Leu)
c.984G>T (p.Trp328Cys)
n.1016G>T
c.391G>T (p.Val131Leu)
c.880G>T (p.Val294Leu)
c.477G>T (p.Trp159Cys)
c.226G>T (p.Val76Leu)
c.319+1985G>T
c.1110G>T (p.Trp370Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435827C=CA1981487047DHCR7c.976G= (p.Val326=)
c.802G= (p.Val268=)
c.1027G= (p.Val343=)
c.1012G= (p.Val338=)
c.984G= (p.Trp328=)
n.1016G=
c.391G= (p.Val131=)
c.880G= (p.Val294=)
c.477G= (p.Trp159=)
c.226G= (p.Val76=)
c.319+1985G=
c.1110G= (p.Trp370=)
11g.71435827C>GCA381702557DHCR7c.976G>C (p.Val326Leu)
c.802G>C (p.Val268Leu)
c.1027G>C (p.Val343Leu)
c.1012G>C (p.Val338Leu)
c.984G>C (p.Trp328Cys)
n.1016G>C
c.391G>C (p.Val131Leu)
c.880G>C (p.Val294Leu)
c.477G>C (p.Trp159Cys)
c.226G>C (p.Val76Leu)
c.319+1985G>C
c.1110G>C (p.Trp370Cys)
11g.71435827C>TCA381702558DHCR7c.976G>A (p.Val326Met)
c.802G>A (p.Val268Met)
c.1027G>A (p.Val343Met)
c.1012G>A (p.Val338Met)
c.984G>A (p.Trp328Ter)
n.1016G>A
c.391G>A (p.Val131Met)
c.880G>A (p.Val294Met)
c.477G>A (p.Trp159Ter)
c.226G>A (p.Val76Met)
c.319+1985G>A
c.1110G>A (p.Trp370Ter)
11g.71435828C>ACA381702559DHCR7c.975G>T (p.Leu325Phe)
c.801G>T (p.Leu267Phe)
c.1026G>T (p.Leu342Phe)
c.1011G>T (p.Leu337Phe)
c.983G>T (p.Trp328Leu)
n.1015G>T
c.390G>T (p.Leu130Phe)
c.879G>T (p.Leu293Phe)
c.476G>T (p.Trp159Leu)
c.225G>T (p.Leu75Phe)
c.319+1984G>T
c.1109G>T (p.Trp370Leu)
11g.71435828C>GCA381702560DHCR7c.975G>C (p.Leu325Phe)
c.801G>C (p.Leu267Phe)
c.1026G>C (p.Leu342Phe)
c.1011G>C (p.Leu337Phe)
c.983G>C (p.Trp328Ser)
n.1015G>C
c.390G>C (p.Leu130Phe)
c.879G>C (p.Leu293Phe)
c.476G>C (p.Trp159Ser)
c.225G>C (p.Leu75Phe)
c.319+1984G>C
c.1109G>C (p.Trp370Ser)
11g.71435828C>TCA381702561DHCR7c.975G>A (p.Leu325=)
c.801G>A (p.Leu267=)
c.1026G>A (p.Leu342=)
c.1011G>A (p.Leu337=)
c.983G>A (p.Trp328Ter)
n.1015G>A
c.390G>A (p.Leu130=)
c.879G>A (p.Leu293=)
c.476G>A (p.Trp159Ter)
c.225G>A (p.Leu75=)
c.319+1984G>A
c.1109G>A (p.Trp370Ter)
11g.71435829A>CCA381702562DHCR7c.974T>G (p.Leu325Trp)
c.800T>G (p.Leu267Trp)
c.1025T>G (p.Leu342Trp)
c.1010T>G (p.Leu337Trp)
c.982T>G (p.Trp328Gly)
n.1014T>G
c.389T>G (p.Leu130Trp)
c.878T>G (p.Leu293Trp)
c.475T>G (p.Trp159Gly)
c.224T>G (p.Leu75Trp)
c.319+1983T>G
c.1108T>G (p.Trp370Gly)
11g.71435829A>GCA381702563DHCR7c.974T>C (p.Leu325Ser)
c.800T>C (p.Leu267Ser)
c.1025T>C (p.Leu342Ser)
c.1010T>C (p.Leu337Ser)
c.982T>C (p.Trp328Arg)
n.1014T>C
c.389T>C (p.Leu130Ser)
c.878T>C (p.Leu293Ser)
c.475T>C (p.Trp159Arg)
c.224T>C (p.Leu75Ser)
c.319+1983T>C
c.1108T>C (p.Trp370Arg)
 gnomAD v4
11g.71435829A>TCA381702564DHCR7c.974T>A (p.Leu325Ter)
c.800T>A (p.Leu267Ter)
c.1025T>A (p.Leu342Ter)
c.1010T>A (p.Leu337Ter)
c.982T>A (p.Trp328Arg)
n.1014T>A
c.389T>A (p.Leu130Ter)
c.878T>A (p.Leu293Ter)
c.475T>A (p.Trp159Arg)
c.224T>A (p.Leu75Ter)
c.319+1983T>A
c.1108T>A (p.Trp370Arg)
11g.71435830A>CCA381702565DHCR7c.973T>G (p.Leu325Val)
c.799T>G (p.Leu267Val)
c.1024T>G (p.Leu342Val)
c.1009T>G (p.Leu337Val)
c.981T>G (p.Thr327=)
n.1013T>G
c.388T>G (p.Leu130Val)
c.877T>G (p.Leu293Val)
c.474T>G (p.Thr158=)
c.223T>G (p.Leu75Val)
c.319+1982T>G
c.1107T>G (p.Thr369=)
11g.71435830A>GCA475860863DHCR7c.973T>C (p.Leu325=)
c.799T>C (p.Leu267=)
c.1024T>C (p.Leu342=)
c.1009T>C (p.Leu337=)
c.981T>C (p.Thr327=)
n.1013T>C
c.388T>C (p.Leu130=)
c.877T>C (p.Leu293=)
c.474T>C (p.Thr158=)
c.223T>C (p.Leu75=)
c.319+1982T>C
c.1107T>C (p.Thr369=)
11g.71435830A>TCA381702566DHCR7c.973T>A (p.Leu325Met)
c.799T>A (p.Leu267Met)
c.1024T>A (p.Leu342Met)
c.1009T>A (p.Leu337Met)
c.981T>A (p.Thr327=)
n.1013T>A
c.388T>A (p.Leu130Met)
c.877T>A (p.Leu293Met)
c.474T>A (p.Thr158=)
c.223T>A (p.Leu75Met)
c.319+1982T>A
c.1107T>A (p.Thr369=)
11g.71435831G>ACA381702567DHCR7c.972C>T (p.Tyr324=)
c.798C>T (p.Tyr266=)
c.1023C>T (p.Tyr341=)
c.1008C>T (p.Tyr336=)
c.980C>T (p.Thr327Ile)
n.1012C>T
c.387C>T (p.Tyr129=)
c.876C>T (p.Tyr292=)
c.473C>T (p.Thr158Ile)
c.222C>T (p.Tyr74=)
c.319+1981C>T
c.1106C>T (p.Thr369Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.71435831G>CCA381702568DHCR7c.972C>G (p.Tyr324Ter)
c.798C>G (p.Tyr266Ter)
c.1023C>G (p.Tyr341Ter)
c.1008C>G (p.Tyr336Ter)
c.980C>G (p.Thr327Ser)
n.1012C>G
c.387C>G (p.Tyr129Ter)
c.876C>G (p.Tyr292Ter)
c.473C>G (p.Thr158Ser)
c.222C>G (p.Tyr74Ter)
c.319+1981C>G
c.1106C>G (p.Thr369Ser)
11g.71435831G=CA1981487048DHCR7c.972C= (p.Tyr324=)
c.798C= (p.Tyr266=)
c.1023C= (p.Tyr341=)
c.1008C= (p.Tyr336=)
c.980C= (p.Thr327=)
n.1012C=
c.387C= (p.Tyr129=)
c.876C= (p.Tyr292=)
c.473C= (p.Thr158=)
c.222C= (p.Tyr74=)
c.319+1981C=
c.1106C= (p.Thr369=)
11g.71435831G>TCA381702569DHCR7c.972C>A (p.Tyr324Ter)
c.798C>A (p.Tyr266Ter)
c.1023C>A (p.Tyr341Ter)
c.1008C>A (p.Tyr336Ter)
c.980C>A (p.Thr327Asn)
n.1012C>A
c.387C>A (p.Tyr129Ter)
c.876C>A (p.Tyr292Ter)
c.473C>A (p.Thr158Asn)
c.222C>A (p.Tyr74Ter)
c.319+1981C>A
c.1106C>A (p.Thr369Asn)
 gnomAD v4
11g.71435832T>ACA381702572DHCR7c.971A>T (p.Tyr324Phe)
c.797A>T (p.Tyr266Phe)
c.1022A>T (p.Tyr341Phe)
c.1007A>T (p.Tyr336Phe)
c.979A>T (p.Thr327Ser)
n.1011A>T
c.386A>T (p.Tyr129Phe)
c.875A>T (p.Tyr292Phe)
c.472A>T (p.Thr158Ser)
c.221A>T (p.Tyr74Phe)
c.319+1980A>T
c.1105A>T (p.Thr369Ser)
11g.71435832T>CCA381702571DHCR7c.971A>G (p.Tyr324Cys)
c.797A>G (p.Tyr266Cys)
c.1022A>G (p.Tyr341Cys)
c.1007A>G (p.Tyr336Cys)
c.979A>G (p.Thr327Ala)
n.1011A>G
c.386A>G (p.Tyr129Cys)
c.875A>G (p.Tyr292Cys)
c.472A>G (p.Thr158Ala)
c.221A>G (p.Tyr74Cys)
c.319+1980A>G
c.1105A>G (p.Thr369Ala)
 dbSNP
11g.71435832T>GCA381702570DHCR7c.971A>C (p.Tyr324Ser)
c.797A>C (p.Tyr266Ser)
c.1022A>C (p.Tyr341Ser)
c.1007A>C (p.Tyr336Ser)
c.979A>C (p.Thr327Pro)
n.1011A>C
c.386A>C (p.Tyr129Ser)
c.875A>C (p.Tyr292Ser)
c.472A>C (p.Thr158Pro)
c.221A>C (p.Tyr74Ser)
c.319+1980A>C
c.1105A>C (p.Thr369Pro)
11g.71435832T=CA1981487049DHCR7c.971A= (p.Tyr324=)
c.797A= (p.Tyr266=)
c.1022A= (p.Tyr341=)
c.1007A= (p.Tyr336=)
c.979A= (p.Thr327=)
n.1011A=
c.386A= (p.Tyr129=)
c.875A= (p.Tyr292=)
c.472A= (p.Thr158=)
c.221A= (p.Tyr74=)
c.319+1980A=
c.1105A= (p.Thr369=)
11g.71435833A=CA1981487050DHCR7c.970T= (p.Tyr324=)
c.796T= (p.Tyr266=)
c.1021T= (p.Tyr341=)
c.1006T= (p.Tyr336=)
c.978T= (p.Cys326=)
n.1010T=
c.385T= (p.Tyr129=)
c.874T= (p.Tyr292=)
c.471T= (p.Cys157=)
c.220T= (p.Tyr74=)
c.319+1979T=
c.1104T= (p.Cys368=)
11g.71435833A>CCA381702575DHCR7c.970T>G (p.Tyr324Asp)
c.796T>G (p.Tyr266Asp)
c.1021T>G (p.Tyr341Asp)
c.1006T>G (p.Tyr336Asp)
c.978T>G (p.Cys326Trp)
n.1010T>G
c.385T>G (p.Tyr129Asp)
c.874T>G (p.Tyr292Asp)
c.471T>G (p.Cys157Trp)
c.220T>G (p.Tyr74Asp)
c.319+1979T>G
c.1104T>G (p.Cys368Trp)
11g.71435833A>GCA381702573DHCR7c.970T>C (p.Tyr324His)
c.796T>C (p.Tyr266His)
c.1021T>C (p.Tyr341His)
c.1006T>C (p.Tyr336His)
c.978T>C (p.Cys326=)
n.1010T>C
c.385T>C (p.Tyr129His)
c.874T>C (p.Tyr292His)
c.471T>C (p.Cys157=)
c.220T>C (p.Tyr74His)
c.319+1979T>C
c.1104T>C (p.Cys368=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435833A>TCA381702574DHCR7c.970T>A (p.Tyr324Asn)
c.796T>A (p.Tyr266Asn)
c.1021T>A (p.Tyr341Asn)
c.1006T>A (p.Tyr336Asn)
c.978T>A (p.Cys326Ter)
n.1010T>A
c.385T>A (p.Tyr129Asn)
c.874T>A (p.Tyr292Asn)
c.471T>A (p.Cys157Ter)
c.220T>A (p.Tyr74Asn)
c.319+1979T>A
c.1104T>A (p.Cys368Ter)
11g.71435834_71435835delCA2573147613DHCR7c.969_970del (p.Tyr324LeufsTer?)
c.795_796del (p.Tyr266LeufsTer?)
c.1020_1021del (p.Tyr341LeufsTer?)
c.1005_1006del (p.Tyr336LeufsTer?)
c.977_978del (p.Cys326TyrfsTer?)
n.1009_1010del
c.384_385del (p.Tyr129LeufsTer?)
c.873_874del (p.Tyr292LeufsTer?)
c.470_471del (p.Cys157TyrfsTer?)
c.219_220del (p.Tyr74LeufsTer?)
c.319+1978_319+1979del
c.1103_1104del (p.Cys368TyrfsTer?)
 ClinVar dbSNP
11g.71435834C>ACA381702576DHCR7c.969G>T (p.Leu323=)
c.795G>T (p.Leu265=)
c.1020G>T (p.Leu340=)
c.1005G>T (p.Leu335=)
c.977G>T (p.Cys326Phe)
n.1009G>T
c.384G>T (p.Leu128=)
c.873G>T (p.Leu291=)
c.470G>T (p.Cys157Phe)
c.219G>T (p.Leu73=)
c.319+1978G>T
c.1103G>T (p.Cys368Phe)
11g.71435834C>GCA381702577DHCR7c.969G>C (p.Leu323=)
c.795G>C (p.Leu265=)
c.1020G>C (p.Leu340=)
c.1005G>C (p.Leu335=)
c.977G>C (p.Cys326Ser)
n.1009G>C
c.384G>C (p.Leu128=)
c.873G>C (p.Leu291=)
c.470G>C (p.Cys157Ser)
c.219G>C (p.Leu73=)
c.319+1978G>C
c.1103G>C (p.Cys368Ser)
11g.71435834C>TCA381702578DHCR7c.969G>A (p.Leu323=)
c.795G>A (p.Leu265=)
c.1020G>A (p.Leu340=)
c.1005G>A (p.Leu335=)
c.977G>A (p.Cys326Tyr)
n.1009G>A
c.384G>A (p.Leu128=)
c.873G>A (p.Leu291=)
c.470G>A (p.Cys157Tyr)
c.219G>A (p.Leu73=)
c.319+1978G>A
c.1103G>A (p.Cys368Tyr)
 gnomAD v4
11g.71435835A>CCA381702579DHCR7c.968T>G (p.Leu323Arg)
c.794T>G (p.Leu265Arg)
c.1019T>G (p.Leu340Arg)
c.1004T>G (p.Leu335Arg)
c.976T>G (p.Cys326Gly)
n.1008T>G
c.383T>G (p.Leu128Arg)
c.872T>G (p.Leu291Arg)
c.469T>G (p.Cys157Gly)
c.218T>G (p.Leu73Arg)
c.319+1977T>G
c.1102T>G (p.Cys368Gly)
11g.71435835A>GCA381702580DHCR7c.968T>C (p.Leu323Pro)
c.794T>C (p.Leu265Pro)
c.1019T>C (p.Leu340Pro)
c.1004T>C (p.Leu335Pro)
c.976T>C (p.Cys326Arg)
n.1008T>C
c.383T>C (p.Leu128Pro)
c.872T>C (p.Leu291Pro)
c.469T>C (p.Cys157Arg)
c.218T>C (p.Leu73Pro)
c.319+1977T>C
c.1102T>C (p.Cys368Arg)
11g.71435835A>TCA381702581DHCR7c.968T>A (p.Leu323Gln)
c.794T>A (p.Leu265Gln)
c.1019T>A (p.Leu340Gln)
c.1004T>A (p.Leu335Gln)
c.976T>A (p.Cys326Ser)
n.1008T>A
c.383T>A (p.Leu128Gln)
c.872T>A (p.Leu291Gln)
c.469T>A (p.Cys157Ser)
c.218T>A (p.Leu73Gln)
c.319+1977T>A
c.1102T>A (p.Cys368Ser)
11g.71435836G>ACA475860867DHCR7c.967C>T (p.Leu323=)
c.793C>T (p.Leu265=)
c.1018C>T (p.Leu340=)
c.1003C>T (p.Leu335=)
c.975C>T (p.Val325=)
n.1007C>T
c.382C>T (p.Leu128=)
c.871C>T (p.Leu291=)
c.468C>T (p.Val156=)
c.217C>T (p.Leu73=)
c.319+1976C>T
c.1101C>T (p.Val367=)
11g.71435836G>CCA381702582DHCR7c.967C>G (p.Leu323Val)
c.793C>G (p.Leu265Val)
c.1018C>G (p.Leu340Val)
c.1003C>G (p.Leu335Val)
c.975C>G (p.Val325=)
n.1007C>G
c.382C>G (p.Leu128Val)
c.871C>G (p.Leu291Val)
c.468C>G (p.Val156=)
c.217C>G (p.Leu73Val)
c.319+1976C>G
c.1101C>G (p.Val367=)
11g.71435836G>TCA381702583DHCR7c.967C>A (p.Leu323Met)
c.793C>A (p.Leu265Met)
c.1018C>A (p.Leu340Met)
c.1003C>A (p.Leu335Met)
c.975C>A (p.Val325=)
n.1007C>A
c.382C>A (p.Leu128Met)
c.871C>A (p.Leu291Met)
c.468C>A (p.Val156=)
c.217C>A (p.Leu73Met)
c.319+1976C>A
c.1101C>A (p.Val367=)
11g.71435837A>CCA381702584DHCR7c.966T>G (p.Gly322=)
c.792T>G (p.Gly264=)
c.1017T>G (p.Gly339=)
c.1002T>G (p.Gly334=)
c.974T>G (p.Val325Gly)
n.1006T>G
c.381T>G (p.Gly127=)
c.870T>G (p.Gly290=)
c.467T>G (p.Val156Gly)
c.216T>G (p.Gly72=)
c.319+1975T>G
c.1100T>G (p.Val367Gly)
11g.71435837A>GCA381702585DHCR7c.966T>C (p.Gly322=)
c.792T>C (p.Gly264=)
c.1017T>C (p.Gly339=)
c.1002T>C (p.Gly334=)
c.974T>C (p.Val325Ala)
n.1006T>C
c.381T>C (p.Gly127=)
c.870T>C (p.Gly290=)
c.467T>C (p.Val156Ala)
c.216T>C (p.Gly72=)
c.319+1975T>C
c.1100T>C (p.Val367Ala)
11g.71435837A>TCA381702586DHCR7c.966T>A (p.Gly322=)
c.792T>A (p.Gly264=)
c.1017T>A (p.Gly339=)
c.1002T>A (p.Gly334=)
c.974T>A (p.Val325Asp)
n.1006T>A
c.381T>A (p.Gly127=)
c.870T>A (p.Gly290=)
c.467T>A (p.Val156Asp)
c.216T>A (p.Gly72=)
c.319+1975T>A
c.1100T>A (p.Val367Asp)
11g.71435838C>ACA381702589DHCR7c.965G>T (p.Gly322Val)
c.791G>T (p.Gly264Val)
c.1016G>T (p.Gly339Val)
c.1001G>T (p.Gly334Val)
c.973G>T (p.Val325Phe)
n.1005G>T
c.380G>T (p.Gly127Val)
c.869G>T (p.Gly290Val)
c.466G>T (p.Val156Phe)
c.215G>T (p.Gly72Val)
c.319+1974G>T
c.1099G>T (p.Val367Phe)
 gnomAD v4
11g.71435838C>GCA381702587DHCR7c.965G>C (p.Gly322Ala)
c.791G>C (p.Gly264Ala)
c.1016G>C (p.Gly339Ala)
c.1001G>C (p.Gly334Ala)
c.973G>C (p.Val325Leu)
n.1005G>C
c.380G>C (p.Gly127Ala)
c.869G>C (p.Gly290Ala)
c.466G>C (p.Val156Leu)
c.215G>C (p.Gly72Ala)
c.319+1974G>C
c.1099G>C (p.Val367Leu)
11g.71435838C>TCA381702588DHCR7c.965G>A (p.Gly322Asp)
c.791G>A (p.Gly264Asp)
c.1016G>A (p.Gly339Asp)
c.1001G>A (p.Gly334Asp)
c.973G>A (p.Val325Ile)
n.1005G>A
c.380G>A (p.Gly127Asp)
c.869G>A (p.Gly290Asp)
c.466G>A (p.Val156Ile)
c.215G>A (p.Gly72Asp)
c.319+1974G>A
c.1099G>A (p.Val367Ile)

Number of alleles fetched