Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71435712G>ACA6162314DHCR7c.1091C>T (p.Thr364Met)
c.917C>T (p.Thr306Met)
c.1142C>T (p.Thr381Met)
c.1127C>T (p.Thr376Met)
c.1099C>T (p.Arg367Trp)
n.1131C>T
c.506C>T (p.Thr169Met)
c.995C>T (p.Thr332Met)
c.592C>T (p.Arg198Trp)
c.341C>T (p.Thr114Met)
c.319+2100C>T
c.1225C>T (p.Arg409Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435712G>CCA381702071DHCR7c.1091C>G (p.Thr364Arg)
c.917C>G (p.Thr306Arg)
c.1142C>G (p.Thr381Arg)
c.1127C>G (p.Thr376Arg)
c.1099C>G (p.Arg367Gly)
n.1131C>G
c.506C>G (p.Thr169Arg)
c.995C>G (p.Thr332Arg)
c.592C>G (p.Arg198Gly)
c.341C>G (p.Thr114Arg)
c.319+2100C>G
c.1225C>G (p.Arg409Gly)
11g.71435712G=CA1981486973DHCR7c.1091C= (p.Thr364=)
c.917C= (p.Thr306=)
c.1142C= (p.Thr381=)
c.1127C= (p.Thr376=)
c.1099C= (p.Arg367=)
n.1131C=
c.506C= (p.Thr169=)
c.995C= (p.Thr332=)
c.592C= (p.Arg198=)
c.341C= (p.Thr114=)
c.319+2100C=
c.1225C= (p.Arg409=)
11g.71435712G>TCA381702073DHCR7c.1091C>A (p.Thr364Lys)
c.917C>A (p.Thr306Lys)
c.1142C>A (p.Thr381Lys)
c.1127C>A (p.Thr376Lys)
c.1099C>A (p.Arg367=)
n.1131C>A
c.506C>A (p.Thr169Lys)
c.995C>A (p.Thr332Lys)
c.592C>A (p.Arg198=)
c.341C>A (p.Thr114Lys)
c.319+2100C>A
c.1225C>A (p.Arg409=)
11g.71435713T>ACA381702075DHCR7c.1090A>T (p.Thr364Ser)
c.916A>T (p.Thr306Ser)
c.1141A>T (p.Thr381Ser)
c.1126A>T (p.Thr376Ser)
c.1098A>T (p.Ala366=)
n.1130A>T
c.505A>T (p.Thr169Ser)
c.994A>T (p.Thr332Ser)
c.591A>T (p.Ala197=)
c.340A>T (p.Thr114Ser)
c.319+2099A>T
c.1224A>T (p.Ala408=)
11g.71435713T>CCA381702076DHCR7c.1090A>G (p.Thr364Ala)
c.916A>G (p.Thr306Ala)
c.1141A>G (p.Thr381Ala)
c.1126A>G (p.Thr376Ala)
c.1098A>G (p.Ala366=)
n.1130A>G
c.505A>G (p.Thr169Ala)
c.994A>G (p.Thr332Ala)
c.591A>G (p.Ala197=)
c.340A>G (p.Thr114Ala)
c.319+2099A>G
c.1224A>G (p.Ala408=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435713T>GCA381702079DHCR7c.1090A>C (p.Thr364Pro)
c.916A>C (p.Thr306Pro)
c.1141A>C (p.Thr381Pro)
c.1126A>C (p.Thr376Pro)
c.1098A>C (p.Ala366=)
n.1130A>C
c.505A>C (p.Thr169Pro)
c.994A>C (p.Thr332Pro)
c.591A>C (p.Ala197=)
c.340A>C (p.Thr114Pro)
c.319+2099A>C
c.1224A>C (p.Ala408=)
11g.71435713T=CA1981486974DHCR7c.1090A= (p.Thr364=)
c.916A= (p.Thr306=)
c.1141A= (p.Thr381=)
c.1126A= (p.Thr376=)
c.1098A= (p.Ala366=)
n.1130A=
c.505A= (p.Thr169=)
c.994A= (p.Thr332=)
c.591A= (p.Ala197=)
c.340A= (p.Thr114=)
c.319+2099A=
c.1224A= (p.Ala408=)
11g.71435714G>ACA381702081DHCR7c.1089C>T (p.Arg363=)
c.915C>T (p.Arg305=)
c.1140C>T (p.Arg380=)
c.1125C>T (p.Arg375=)
c.1097C>T (p.Ala366Val)
n.1129C>T
c.504C>T (p.Arg168=)
c.993C>T (p.Arg331=)
c.590C>T (p.Ala197Val)
c.339C>T (p.Arg113=)
c.319+2098C>T
c.1223C>T (p.Ala408Val)
 ClinVar gnomAD v4 COSMIC COSMIC
11g.71435714G>CCA381702082DHCR7c.1089C>G (p.Arg363=)
c.915C>G (p.Arg305=)
c.1140C>G (p.Arg380=)
c.1125C>G (p.Arg375=)
c.1097C>G (p.Ala366Gly)
n.1129C>G
c.504C>G (p.Arg168=)
c.993C>G (p.Arg331=)
c.590C>G (p.Ala197Gly)
c.339C>G (p.Arg113=)
c.319+2098C>G
c.1223C>G (p.Ala408Gly)
11g.71435714G>TCA381702080DHCR7c.1089C>A (p.Arg363=)
c.915C>A (p.Arg305=)
c.1140C>A (p.Arg380=)
c.1125C>A (p.Arg375=)
c.1097C>A (p.Ala366Glu)
n.1129C>A
c.504C>A (p.Arg168=)
c.993C>A (p.Arg331=)
c.590C>A (p.Ala197Glu)
c.339C>A (p.Arg113=)
c.319+2098C>A
c.1223C>A (p.Ala408Glu)
11g.71435715C>ACA224324448DHCR7c.1088G>T (p.Arg363Leu)
c.914G>T (p.Arg305Leu)
c.1139G>T (p.Arg380Leu)
c.1124G>T (p.Arg375Leu)
c.1096G>T (p.Ala366Ser)
n.1128G>T
c.503G>T (p.Arg168Leu)
c.992G>T (p.Arg331Leu)
c.589G>T (p.Ala197Ser)
c.338G>T (p.Arg113Leu)
c.319+2097G>T
c.1222G>T (p.Ala408Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.71435715C=CA1981486975DHCR7c.1088G= (p.Arg363=)
c.914G= (p.Arg305=)
c.1139G= (p.Arg380=)
c.1124G= (p.Arg375=)
c.1096G= (p.Ala366=)
n.1128G=
c.503G= (p.Arg168=)
c.992G= (p.Arg331=)
c.589G= (p.Ala197=)
c.338G= (p.Arg113=)
c.319+2097G=
c.1222G= (p.Ala408=)
11g.71435715C>GCA381702088DHCR7c.1088G>C (p.Arg363Pro)
c.914G>C (p.Arg305Pro)
c.1139G>C (p.Arg380Pro)
c.1124G>C (p.Arg375Pro)
c.1096G>C (p.Ala366Pro)
n.1128G>C
c.503G>C (p.Arg168Pro)
c.992G>C (p.Arg331Pro)
c.589G>C (p.Ala197Pro)
c.338G>C (p.Arg113Pro)
c.319+2097G>C
c.1222G>C (p.Ala408Pro)
11g.71435715C>TCA6162315DHCR7c.1088G>A (p.Arg363His)
c.914G>A (p.Arg305His)
c.1139G>A (p.Arg380His)
c.1124G>A (p.Arg375His)
c.1096G>A (p.Ala366Thr)
n.1128G>A
c.503G>A (p.Arg168His)
c.992G>A (p.Arg331His)
c.589G>A (p.Ala197Thr)
c.338G>A (p.Arg113His)
c.319+2097G>A
c.1222G>A (p.Ala408Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435716G>ACA6162316DHCR7c.1087C>T (p.Arg363Cys)
c.913C>T (p.Arg305Cys)
c.1138C>T (p.Arg380Cys)
c.1123C>T (p.Arg375Cys)
c.1095C>T (p.Ala365=)
n.1127C>T
c.502C>T (p.Arg168Cys)
c.991C>T (p.Arg331Cys)
c.588C>T (p.Ala196=)
c.337C>T (p.Arg113Cys)
c.319+2096C>T
c.1221C>T (p.Ala407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435716G>CCA381702090DHCR7c.1087C>G (p.Arg363Gly)
c.913C>G (p.Arg305Gly)
c.1138C>G (p.Arg380Gly)
c.1123C>G (p.Arg375Gly)
c.1095C>G (p.Ala365=)
n.1127C>G
c.502C>G (p.Arg168Gly)
c.991C>G (p.Arg331Gly)
c.588C>G (p.Ala196=)
c.337C>G (p.Arg113Gly)
c.319+2096C>G
c.1221C>G (p.Ala407=)
11g.71435716G=CA1981486976DHCR7c.1087C= (p.Arg363=)
c.913C= (p.Arg305=)
c.1138C= (p.Arg380=)
c.1123C= (p.Arg375=)
c.1095C= (p.Ala365=)
n.1127C=
c.502C= (p.Arg168=)
c.991C= (p.Arg331=)
c.588C= (p.Ala196=)
c.337C= (p.Arg113=)
c.319+2096C=
c.1221C= (p.Ala407=)
11g.71435716G>TCA381702092DHCR7c.1087C>A (p.Arg363Ser)
c.913C>A (p.Arg305Ser)
c.1138C>A (p.Arg380Ser)
c.1123C>A (p.Arg375Ser)
c.1095C>A (p.Ala365=)
n.1127C>A
c.502C>A (p.Arg168Ser)
c.991C>A (p.Arg331Ser)
c.588C>A (p.Ala196=)
c.337C>A (p.Arg113Ser)
c.319+2096C>A
c.1221C>A (p.Ala407=)
11g.71435717G>ACA381702093DHCR7c.1086C>T (p.Arg362=)
c.912C>T (p.Arg304=)
c.1137C>T (p.Arg379=)
c.1122C>T (p.Arg374=)
c.1094C>T (p.Ala365Val)
n.1126C>T
c.501C>T (p.Arg167=)
c.990C>T (p.Arg330=)
c.587C>T (p.Ala196Val)
c.336C>T (p.Arg112=)
c.319+2095C>T
c.1220C>T (p.Ala407Val)
 ClinVar dbSNP gnomAD v4
11g.71435717G>CCA381702095DHCR7c.1086C>G (p.Arg362=)
c.912C>G (p.Arg304=)
c.1137C>G (p.Arg379=)
c.1122C>G (p.Arg374=)
c.1094C>G (p.Ala365Gly)
n.1126C>G
c.501C>G (p.Arg167=)
c.990C>G (p.Arg330=)
c.587C>G (p.Ala196Gly)
c.336C>G (p.Arg112=)
c.319+2095C>G
c.1220C>G (p.Ala407Gly)
11g.71435717G=CA1981486977DHCR7c.1086C= (p.Arg362=)
c.912C= (p.Arg304=)
c.1137C= (p.Arg379=)
c.1122C= (p.Arg374=)
c.1094C= (p.Ala365=)
n.1126C=
c.501C= (p.Arg167=)
c.990C= (p.Arg330=)
c.587C= (p.Ala196=)
c.336C= (p.Arg112=)
c.319+2095C=
c.1220C= (p.Ala407=)
11g.71435717G>TCA381702098DHCR7c.1086C>A (p.Arg362=)
c.912C>A (p.Arg304=)
c.1137C>A (p.Arg379=)
c.1122C>A (p.Arg374=)
c.1094C>A (p.Ala365Asp)
n.1126C>A
c.501C>A (p.Arg167=)
c.990C>A (p.Arg330=)
c.587C>A (p.Ala196Asp)
c.336C>A (p.Arg112=)
c.319+2095C>A
c.1220C>A (p.Ala407Asp)
 gnomAD v4
11g.71435718C>ACA6162318DHCR7c.1085G>T (p.Arg362Leu)
c.911G>T (p.Arg304Leu)
c.1136G>T (p.Arg379Leu)
c.1121G>T (p.Arg374Leu)
c.1093G>T (p.Ala365Ser)
n.1125G>T
c.500G>T (p.Arg167Leu)
c.989G>T (p.Arg330Leu)
c.586G>T (p.Ala196Ser)
c.335G>T (p.Arg112Leu)
c.319+2094G>T
c.1219G>T (p.Ala407Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435718C=CA1981486978DHCR7c.1085G= (p.Arg362=)
c.911G= (p.Arg304=)
c.1136G= (p.Arg379=)
c.1121G= (p.Arg374=)
c.1093G= (p.Ala365=)
n.1125G=
c.500G= (p.Arg167=)
c.989G= (p.Arg330=)
c.586G= (p.Ala196=)
c.335G= (p.Arg112=)
c.319+2094G=
c.1219G= (p.Ala407=)
11g.71435718C>GCA381702101DHCR7c.1085G>C (p.Arg362Pro)
c.911G>C (p.Arg304Pro)
c.1136G>C (p.Arg379Pro)
c.1121G>C (p.Arg374Pro)
c.1093G>C (p.Ala365Pro)
n.1125G>C
c.500G>C (p.Arg167Pro)
c.989G>C (p.Arg330Pro)
c.586G>C (p.Ala196Pro)
c.335G>C (p.Arg112Pro)
c.319+2094G>C
c.1219G>C (p.Ala407Pro)
11g.71435718C>TCA6162317DHCR7c.1085G>A (p.Arg362His)
c.911G>A (p.Arg304His)
c.1136G>A (p.Arg379His)
c.1121G>A (p.Arg374His)
c.1093G>A (p.Ala365Thr)
n.1125G>A
c.500G>A (p.Arg167His)
c.989G>A (p.Arg330His)
c.586G>A (p.Ala196Thr)
c.335G>A (p.Arg112His)
c.319+2094G>A
c.1219G>A (p.Ala407Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435719G>ACA6162319DHCR7c.1084C>T (p.Arg362Cys)
c.910C>T (p.Arg304Cys)
c.1135C>T (p.Arg379Cys)
c.1120C>T (p.Arg374Cys)
c.1092C>T (p.Ser364=)
n.1124C>T
c.499C>T (p.Arg167Cys)
c.988C>T (p.Arg330Cys)
c.585C>T (p.Ser195=)
c.334C>T (p.Arg112Cys)
c.319+2093C>T
c.1218C>T (p.Ser406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435719G>CCA381702106DHCR7c.1084C>G (p.Arg362Gly)
c.910C>G (p.Arg304Gly)
c.1135C>G (p.Arg379Gly)
c.1120C>G (p.Arg374Gly)
c.1092C>G (p.Ser364=)
n.1124C>G
c.499C>G (p.Arg167Gly)
c.988C>G (p.Arg330Gly)
c.585C>G (p.Ser195=)
c.334C>G (p.Arg112Gly)
c.319+2093C>G
c.1218C>G (p.Ser406=)
 ClinVar dbSNP
11g.71435719G=CA1981486979DHCR7c.1084C= (p.Arg362=)
c.910C= (p.Arg304=)
c.1135C= (p.Arg379=)
c.1120C= (p.Arg374=)
c.1092C= (p.Ser364=)
n.1124C=
c.499C= (p.Arg167=)
c.988C= (p.Arg330=)
c.585C= (p.Ser195=)
c.334C= (p.Arg112=)
c.319+2093C=
c.1218C= (p.Ser406=)
11g.71435719G>TCA381702107DHCR7c.1084C>A (p.Arg362Ser)
c.910C>A (p.Arg304Ser)
c.1135C>A (p.Arg379Ser)
c.1120C>A (p.Arg374Ser)
c.1092C>A (p.Ser364=)
n.1124C>A
c.499C>A (p.Arg167Ser)
c.988C>A (p.Arg330Ser)
c.585C>A (p.Ser195=)
c.334C>A (p.Arg112Ser)
c.319+2093C>A
c.1218C>A (p.Ser406=)
 dbSNP gnomAD v2 gnomAD v4
11g.71435720delCA2614857221DHCR7c.1084del (p.Arg362AlafsTer?)
c.910del (p.Arg304AlafsTer?)
c.1135del (p.Arg379AlafsTer?)
c.1120del (p.Arg374AlafsTer?)
c.1092del (p.Ala365ProfsTer?)
n.1124del
c.499del (p.Arg167AlafsTer?)
c.988del (p.Arg330AlafsTer?)
c.585del (p.Ala196ProfsTer?)
c.334del (p.Arg112AlafsTer?)
c.319+2093del
c.1218del (p.Ala407ProfsTer?)
 gnomAD v4
11g.71435720G>ACA381702109DHCR7c.1083C>T (p.Phe361=)
c.909C>T (p.Phe303=)
c.1134C>T (p.Phe378=)
c.1119C>T (p.Phe373=)
c.1091C>T (p.Ser364Phe)
n.1123C>T
c.498C>T (p.Phe166=)
c.987C>T (p.Phe329=)
c.584C>T (p.Ser195Phe)
c.333C>T (p.Phe111=)
c.319+2092C>T
c.1217C>T (p.Ser406Phe)
 dbSNP
11g.71435720G>CCA381702110DHCR7c.1083C>G (p.Phe361Leu)
c.909C>G (p.Phe303Leu)
c.1134C>G (p.Phe378Leu)
c.1119C>G (p.Phe373Leu)
c.1091C>G (p.Ser364Cys)
n.1123C>G
c.498C>G (p.Phe166Leu)
c.987C>G (p.Phe329Leu)
c.584C>G (p.Ser195Cys)
c.333C>G (p.Phe111Leu)
c.319+2092C>G
c.1217C>G (p.Ser406Cys)
 ClinVar dbSNP gnomAD v4
11g.71435720G=CA1981486980DHCR7c.1083C= (p.Phe361=)
c.909C= (p.Phe303=)
c.1134C= (p.Phe378=)
c.1119C= (p.Phe373=)
c.1091C= (p.Ser364=)
n.1123C=
c.498C= (p.Phe166=)
c.987C= (p.Phe329=)
c.584C= (p.Ser195=)
c.333C= (p.Phe111=)
c.319+2092C=
c.1217C= (p.Ser406=)
11g.71435720G>TCA6162320DHCR7c.1083C>A (p.Phe361Leu)
c.909C>A (p.Phe303Leu)
c.1134C>A (p.Phe378Leu)
c.1119C>A (p.Phe373Leu)
c.1091C>A (p.Ser364Tyr)
n.1123C>A
c.498C>A (p.Phe166Leu)
c.987C>A (p.Phe329Leu)
c.584C>A (p.Ser195Tyr)
c.333C>A (p.Phe111Leu)
c.319+2092C>A
c.1217C>A (p.Ser406Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435721A=CA1981486982DHCR7c.1082T= (p.Phe361=)
c.908T= (p.Phe303=)
c.1133T= (p.Phe378=)
c.1118T= (p.Phe373=)
c.1090T= (p.Ser364=)
n.1122T=
c.497T= (p.Phe166=)
c.986T= (p.Phe329=)
c.583T= (p.Ser195=)
c.332T= (p.Phe111=)
c.319+2091T=
c.1216T= (p.Ser406=)
11g.71435721A>CCA381702113DHCR7c.1082T>G (p.Phe361Cys)
c.908T>G (p.Phe303Cys)
c.1133T>G (p.Phe378Cys)
c.1118T>G (p.Phe373Cys)
c.1090T>G (p.Ser364Ala)
n.1122T>G
c.497T>G (p.Phe166Cys)
c.986T>G (p.Phe329Cys)
c.583T>G (p.Ser195Ala)
c.332T>G (p.Phe111Cys)
c.319+2091T>G
c.1216T>G (p.Ser406Ala)
11g.71435721A>GCA381702115DHCR7c.1082T>C (p.Phe361Ser)
c.908T>C (p.Phe303Ser)
c.1133T>C (p.Phe378Ser)
c.1118T>C (p.Phe373Ser)
c.1090T>C (p.Ser364Pro)
n.1122T>C
c.497T>C (p.Phe166Ser)
c.986T>C (p.Phe329Ser)
c.583T>C (p.Ser195Pro)
c.332T>C (p.Phe111Ser)
c.319+2091T>C
c.1216T>C (p.Ser406Pro)
 dbSNP
11g.71435721A>TCA381702116DHCR7c.1082T>A (p.Phe361Tyr)
c.908T>A (p.Phe303Tyr)
c.1133T>A (p.Phe378Tyr)
c.1118T>A (p.Phe373Tyr)
c.1090T>A (p.Ser364Thr)
n.1122T>A
c.497T>A (p.Phe166Tyr)
c.986T>A (p.Phe329Tyr)
c.583T>A (p.Ser195Thr)
c.332T>A (p.Phe111Tyr)
c.319+2091T>A
c.1216T>A (p.Ser406Thr)
11g.71435721_71435723delinsAACCA1981486981DHCR7c.1080_1082delinsGTT (p.Leu360=)
c.906_908delinsGTT (p.Leu302=)
c.1131_1133delinsGTT (p.Leu377=)
c.1116_1118delinsGTT (p.Leu372=)
c.1088_1090delinsGTT (p.Cys363=)
n.1120_1122delinsGTT
c.495_497delinsGTT (p.Leu165=)
c.984_986delinsGTT (p.Leu328=)
c.581_583delinsGTT (p.Cys194=)
c.330_332delinsGTT (p.Leu110=)
c.319+2089_319+2091delinsGTT
c.1214_1216delinsGTT (p.Cys405=)
11g.71435722A>CCA381702118DHCR7c.1081T>G (p.Phe361Val)
c.907T>G (p.Phe303Val)
c.1132T>G (p.Phe378Val)
c.1117T>G (p.Phe373Val)
c.1089T>G (p.Cys363Trp)
n.1121T>G
c.496T>G (p.Phe166Val)
c.985T>G (p.Phe329Val)
c.582T>G (p.Cys194Trp)
c.331T>G (p.Phe111Val)
c.319+2090T>G
c.1215T>G (p.Cys405Trp)
11g.71435722A>GCA381702119DHCR7c.1081T>C (p.Phe361Leu)
c.907T>C (p.Phe303Leu)
c.1132T>C (p.Phe378Leu)
c.1117T>C (p.Phe373Leu)
c.1089T>C (p.Cys363=)
n.1121T>C
c.496T>C (p.Phe166Leu)
c.985T>C (p.Phe329Leu)
c.582T>C (p.Cys194=)
c.331T>C (p.Phe111Leu)
c.319+2090T>C
c.1215T>C (p.Cys405=)
11g.71435722A>TCA381702121DHCR7c.1081T>A (p.Phe361Ile)
c.907T>A (p.Phe303Ile)
c.1132T>A (p.Phe378Ile)
c.1117T>A (p.Phe373Ile)
c.1089T>A (p.Cys363Ter)
n.1121T>A
c.496T>A (p.Phe166Ile)
c.985T>A (p.Phe329Ile)
c.582T>A (p.Cys194Ter)
c.331T>A (p.Phe111Ile)
c.319+2090T>A
c.1215T>A (p.Cys405Ter)
11g.71435723_71435724delCA16041546DHCR7c.1080_1081del (p.Phe361ProfsTer?)
c.906_907del (p.Phe303ProfsTer?)
c.1131_1132del (p.Phe378ProfsTer?)
c.1116_1117del (p.Phe373ProfsTer?)
c.1088_1089del (p.Cys363PhefsTer?)
n.1120_1121del
c.495_496del (p.Phe166ProfsTer?)
c.984_985del (p.Phe329ProfsTer?)
c.581_582del (p.Cys194PhefsTer?)
c.330_331del (p.Phe111ProfsTer?)
c.319+2089_319+2090del
c.1214_1215del (p.Cys405PhefsTer?)
 ClinVar dbSNP
11g.71435723C>ACA381702124DHCR7c.1080G>T (p.Leu360=)
c.906G>T (p.Leu302=)
c.1131G>T (p.Leu377=)
c.1116G>T (p.Leu372=)
c.1088G>T (p.Cys363Phe)
n.1120G>T
c.495G>T (p.Leu165=)
c.984G>T (p.Leu328=)
c.581G>T (p.Cys194Phe)
c.330G>T (p.Leu110=)
c.319+2089G>T
c.1214G>T (p.Cys405Phe)
11g.71435723C>GCA381702125DHCR7c.1080G>C (p.Leu360=)
c.906G>C (p.Leu302=)
c.1131G>C (p.Leu377=)
c.1116G>C (p.Leu372=)
c.1088G>C (p.Cys363Ser)
n.1120G>C
c.495G>C (p.Leu165=)
c.984G>C (p.Leu328=)
c.581G>C (p.Cys194Ser)
c.330G>C (p.Leu110=)
c.319+2089G>C
c.1214G>C (p.Cys405Ser)
11g.71435723C>TCA381702126DHCR7c.1080G>A (p.Leu360=)
c.906G>A (p.Leu302=)
c.1131G>A (p.Leu377=)
c.1116G>A (p.Leu372=)
c.1088G>A (p.Cys363Tyr)
n.1120G>A
c.495G>A (p.Leu165=)
c.984G>A (p.Leu328=)
c.581G>A (p.Cys194Tyr)
c.330G>A (p.Leu110=)
c.319+2089G>A
c.1214G>A (p.Cys405Tyr)
11g.71435724A=CA1981486983DHCR7c.1079T= (p.Leu360=)
c.905T= (p.Leu302=)
c.1130T= (p.Leu377=)
c.1115T= (p.Leu372=)
c.1087T= (p.Cys363=)
n.1119T=
c.494T= (p.Leu165=)
c.983T= (p.Leu328=)
c.580T= (p.Cys194=)
c.329T= (p.Leu110=)
c.319+2088T=
c.1213T= (p.Cys405=)
11g.71435724A>CCA381702130DHCR7c.1079T>G (p.Leu360Arg)
c.905T>G (p.Leu302Arg)
c.1130T>G (p.Leu377Arg)
c.1115T>G (p.Leu372Arg)
c.1087T>G (p.Cys363Gly)
n.1119T>G
c.494T>G (p.Leu165Arg)
c.983T>G (p.Leu328Arg)
c.580T>G (p.Cys194Gly)
c.329T>G (p.Leu110Arg)
c.319+2088T>G
c.1213T>G (p.Cys405Gly)
11g.71435724A>GCA381702131DHCR7c.1079T>C (p.Leu360Pro)
c.905T>C (p.Leu302Pro)
c.1130T>C (p.Leu377Pro)
c.1115T>C (p.Leu372Pro)
c.1087T>C (p.Cys363Arg)
n.1119T>C
c.494T>C (p.Leu165Pro)
c.983T>C (p.Leu328Pro)
c.580T>C (p.Cys194Arg)
c.329T>C (p.Leu110Pro)
c.319+2088T>C
c.1213T>C (p.Cys405Arg)
 ClinVar dbSNP
11g.71435724A>TCA381702128DHCR7c.1079T>A (p.Leu360Gln)
c.905T>A (p.Leu302Gln)
c.1130T>A (p.Leu377Gln)
c.1115T>A (p.Leu372Gln)
c.1087T>A (p.Cys363Ser)
n.1119T>A
c.494T>A (p.Leu165Gln)
c.983T>A (p.Leu328Gln)
c.580T>A (p.Cys194Ser)
c.329T>A (p.Leu110Gln)
c.319+2088T>A
c.1213T>A (p.Cys405Ser)
 COSMIC COSMIC
11g.71435725G>ACA475861116DHCR7c.1078C>T (p.Leu360=)
c.904C>T (p.Leu302=)
c.1129C>T (p.Leu377=)
c.1114C>T (p.Leu372=)
c.1086C>T (p.Thr362=)
n.1118C>T
c.493C>T (p.Leu165=)
c.982C>T (p.Leu328=)
c.579C>T (p.Thr193=)
c.328C>T (p.Leu110=)
c.319+2087C>T
c.1212C>T (p.Thr404=)
11g.71435725G>CCA381702132DHCR7c.1078C>G (p.Leu360Val)
c.904C>G (p.Leu302Val)
c.1129C>G (p.Leu377Val)
c.1114C>G (p.Leu372Val)
c.1086C>G (p.Thr362=)
n.1118C>G
c.493C>G (p.Leu165Val)
c.982C>G (p.Leu328Val)
c.579C>G (p.Thr193=)
c.328C>G (p.Leu110Val)
c.319+2087C>G
c.1212C>G (p.Thr404=)
11g.71435725G=CA1981486984DHCR7c.1078C= (p.Leu360=)
c.904C= (p.Leu302=)
c.1129C= (p.Leu377=)
c.1114C= (p.Leu372=)
c.1086C= (p.Thr362=)
n.1118C=
c.493C= (p.Leu165=)
c.982C= (p.Leu328=)
c.579C= (p.Thr193=)
c.328C= (p.Leu110=)
c.319+2087C=
c.1212C= (p.Thr404=)
11g.71435725G>TCA381702134DHCR7c.1078C>A (p.Leu360Met)
c.904C>A (p.Leu302Met)
c.1129C>A (p.Leu377Met)
c.1114C>A (p.Leu372Met)
c.1086C>A (p.Thr362=)
n.1118C>A
c.493C>A (p.Leu165Met)
c.982C>A (p.Leu328Met)
c.579C>A (p.Thr193=)
c.328C>A (p.Leu110Met)
c.319+2087C>A
c.1212C>A (p.Thr404=)
11g.71435726G>ACA381702136DHCR7c.1077C>T (p.Asp359=)
c.903C>T (p.Asp301=)
c.1128C>T (p.Asp376=)
c.1113C>T (p.Asp371=)
c.1085C>T (p.Thr362Ile)
n.1117C>T
c.492C>T (p.Asp164=)
c.981C>T (p.Asp327=)
c.578C>T (p.Thr193Ile)
c.327C>T (p.Asp109=)
c.319+2086C>T
c.1211C>T (p.Thr404Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435726G>CCA381702137DHCR7c.1077C>G (p.Asp359Glu)
c.903C>G (p.Asp301Glu)
c.1128C>G (p.Asp376Glu)
c.1113C>G (p.Asp371Glu)
c.1085C>G (p.Thr362Ser)
n.1117C>G
c.492C>G (p.Asp164Glu)
c.981C>G (p.Asp327Glu)
c.578C>G (p.Thr193Ser)
c.327C>G (p.Asp109Glu)
c.319+2086C>G
c.1211C>G (p.Thr404Ser)
 ClinVar
11g.71435726G=CA1981486985DHCR7c.1077C= (p.Asp359=)
c.903C= (p.Asp301=)
c.1128C= (p.Asp376=)
c.1113C= (p.Asp371=)
c.1085C= (p.Thr362=)
n.1117C=
c.492C= (p.Asp164=)
c.981C= (p.Asp327=)
c.578C= (p.Thr193=)
c.327C= (p.Asp109=)
c.319+2086C=
c.1211C= (p.Thr404=)
11g.71435726G>TCA381702139DHCR7c.1077C>A (p.Asp359Glu)
c.903C>A (p.Asp301Glu)
c.1128C>A (p.Asp376Glu)
c.1113C>A (p.Asp371Glu)
c.1085C>A (p.Thr362Asn)
n.1117C>A
c.492C>A (p.Asp164Glu)
c.981C>A (p.Asp327Glu)
c.578C>A (p.Thr193Asn)
c.327C>A (p.Asp109Glu)
c.319+2086C>A
c.1211C>A (p.Thr404Asn)
 dbSNP
11g.71435726_71435727dupCA600241192DHCR7c.1076_1077dup (p.Leu360ThrfsTer?)
c.902_903dup (p.Leu302ThrfsTer?)
c.1127_1128dup (p.Leu377ThrfsTer?)
c.1112_1113dup (p.Leu372ThrfsTer?)
c.1084_1085dup (p.Cys363ProfsTer?)
n.1116_1117dup
c.491_492dup (p.Leu165ThrfsTer?)
c.980_981dup (p.Leu328ThrfsTer?)
c.577_578dup (p.Cys194ProfsTer?)
c.326_327dup (p.Leu110ThrfsTer?)
c.319+2085_319+2086dup
c.1210_1211dup (p.Cys405ProfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435727T>ACA381702144DHCR7c.1076A>T (p.Asp359Val)
c.902A>T (p.Asp301Val)
c.1127A>T (p.Asp376Val)
c.1112A>T (p.Asp371Val)
c.1084A>T (p.Thr362Ser)
n.1116A>T
c.491A>T (p.Asp164Val)
c.980A>T (p.Asp327Val)
c.577A>T (p.Thr193Ser)
c.326A>T (p.Asp109Val)
c.319+2085A>T
c.1210A>T (p.Thr404Ser)
11g.71435727T>CCA381702142DHCR7c.1076A>G (p.Asp359Gly)
c.902A>G (p.Asp301Gly)
c.1127A>G (p.Asp376Gly)
c.1112A>G (p.Asp371Gly)
c.1084A>G (p.Thr362Ala)
n.1116A>G
c.491A>G (p.Asp164Gly)
c.980A>G (p.Asp327Gly)
c.577A>G (p.Thr193Ala)
c.326A>G (p.Asp109Gly)
c.319+2085A>G
c.1210A>G (p.Thr404Ala)
 gnomAD v4
11g.71435727T>GCA381702140DHCR7c.1076A>C (p.Asp359Ala)
c.902A>C (p.Asp301Ala)
c.1127A>C (p.Asp376Ala)
c.1112A>C (p.Asp371Ala)
c.1084A>C (p.Thr362Pro)
n.1116A>C
c.491A>C (p.Asp164Ala)
c.980A>C (p.Asp327Ala)
c.577A>C (p.Thr193Pro)
c.326A>C (p.Asp109Ala)
c.319+2085A>C
c.1210A>C (p.Thr404Pro)
 dbSNP
11g.71435727T=CA1981486986DHCR7c.1076A= (p.Asp359=)
c.902A= (p.Asp301=)
c.1127A= (p.Asp376=)
c.1112A= (p.Asp371=)
c.1084A= (p.Thr362=)
n.1116A=
c.491A= (p.Asp164=)
c.980A= (p.Asp327=)
c.577A= (p.Thr193=)
c.326A= (p.Asp109=)
c.319+2085A=
c.1210A= (p.Thr404=)
11g.71435728C>ACA381702145DHCR7c.1075G>T (p.Asp359Tyr)
c.901G>T (p.Asp301Tyr)
c.1126G>T (p.Asp376Tyr)
c.1111G>T (p.Asp371Tyr)
c.1083G>T (p.Arg361Ser)
n.1115G>T
c.490G>T (p.Asp164Tyr)
c.979G>T (p.Asp327Tyr)
c.576G>T (p.Arg192Ser)
c.325G>T (p.Asp109Tyr)
c.319+2084G>T
c.1209G>T (p.Arg403Ser)
11g.71435728C>GCA381702146DHCR7c.1075G>C (p.Asp359His)
c.901G>C (p.Asp301His)
c.1126G>C (p.Asp376His)
c.1111G>C (p.Asp371His)
c.1083G>C (p.Arg361Ser)
n.1115G>C
c.490G>C (p.Asp164His)
c.979G>C (p.Asp327His)
c.576G>C (p.Arg192Ser)
c.325G>C (p.Asp109His)
c.319+2084G>C
c.1209G>C (p.Arg403Ser)
11g.71435728C>TCA381702147DHCR7c.1075G>A (p.Asp359Asn)
c.901G>A (p.Asp301Asn)
c.1126G>A (p.Asp376Asn)
c.1111G>A (p.Asp371Asn)
c.1083G>A (p.Arg361=)
n.1115G>A
c.490G>A (p.Asp164Asn)
c.979G>A (p.Asp327Asn)
c.576G>A (p.Arg192=)
c.325G>A (p.Asp109Asn)
c.319+2084G>A
c.1209G>A (p.Arg403=)
11g.71435729C>ACA381702148DHCR7c.1074G>T (p.Lys358Asn)
c.900G>T (p.Lys300Asn)
c.1125G>T (p.Lys375Asn)
c.1110G>T (p.Lys370Asn)
c.1082G>T (p.Arg361Met)
n.1114G>T
c.489G>T (p.Lys163Asn)
c.978G>T (p.Lys326Asn)
c.575G>T (p.Arg192Met)
c.324G>T (p.Lys108Asn)
c.319+2083G>T
c.1208G>T (p.Arg403Met)
11g.71435729C=CA1981486987DHCR7c.1074G= (p.Lys358=)
c.900G= (p.Lys300=)
c.1125G= (p.Lys375=)
c.1110G= (p.Lys370=)
c.1082G= (p.Arg361=)
n.1114G=
c.489G= (p.Lys163=)
c.978G= (p.Lys326=)
c.575G= (p.Arg192=)
c.324G= (p.Lys108=)
c.319+2083G=
c.1208G= (p.Arg403=)
11g.71435729C>GCA381702149DHCR7c.1074G>C (p.Lys358Asn)
c.900G>C (p.Lys300Asn)
c.1125G>C (p.Lys375Asn)
c.1110G>C (p.Lys370Asn)
c.1082G>C (p.Arg361Thr)
n.1114G>C
c.489G>C (p.Lys163Asn)
c.978G>C (p.Lys326Asn)
c.575G>C (p.Arg192Thr)
c.324G>C (p.Lys108Asn)
c.319+2083G>C
c.1208G>C (p.Arg403Thr)
11g.71435729C>TCA6162321DHCR7c.1074G>A (p.Lys358=)
c.900G>A (p.Lys300=)
c.1125G>A (p.Lys375=)
c.1110G>A (p.Lys370=)
c.1082G>A (p.Arg361Lys)
n.1114G>A
c.489G>A (p.Lys163=)
c.978G>A (p.Lys326=)
c.575G>A (p.Arg192Lys)
c.324G>A (p.Lys108=)
c.319+2083G>A
c.1208G>A (p.Arg403Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435729_71435730delinsCTCA1981486988DHCR7c.1073_1074delinsAG (p.Lys358=)
c.899_900delinsAG (p.Lys300=)
c.1124_1125delinsAG (p.Lys375=)
c.1109_1110delinsAG (p.Lys370=)
c.1081_1082delinsAG (p.Arg361=)
n.1113_1114delinsAG
c.488_489delinsAG (p.Lys163=)
c.977_978delinsAG (p.Lys326=)
c.574_575delinsAG (p.Arg192=)
c.323_324delinsAG (p.Lys108=)
c.319+2082_319+2083delinsAG
c.1207_1208delinsAG (p.Arg403=)
11g.71435730T>ACA381702152DHCR7c.1073A>T (p.Lys358Met)
c.899A>T (p.Lys300Met)
c.1124A>T (p.Lys375Met)
c.1109A>T (p.Lys370Met)
c.1081A>T (p.Arg361Trp)
n.1113A>T
c.488A>T (p.Lys163Met)
c.977A>T (p.Lys326Met)
c.574A>T (p.Arg192Trp)
c.323A>T (p.Lys108Met)
c.319+2082A>T
c.1207A>T (p.Arg403Trp)
11g.71435730T>CCA381702155DHCR7c.1073A>G (p.Lys358Arg)
c.899A>G (p.Lys300Arg)
c.1124A>G (p.Lys375Arg)
c.1109A>G (p.Lys370Arg)
c.1081A>G (p.Arg361Gly)
n.1113A>G
c.488A>G (p.Lys163Arg)
c.977A>G (p.Lys326Arg)
c.574A>G (p.Arg192Gly)
c.323A>G (p.Lys108Arg)
c.319+2082A>G
c.1207A>G (p.Arg403Gly)
11g.71435730T>GCA381702154DHCR7c.1073A>C (p.Lys358Thr)
c.899A>C (p.Lys300Thr)
c.1124A>C (p.Lys375Thr)
c.1109A>C (p.Lys370Thr)
c.1081A>C (p.Arg361=)
n.1113A>C
c.488A>C (p.Lys163Thr)
c.977A>C (p.Lys326Thr)
c.574A>C (p.Arg192=)
c.323A>C (p.Lys108Thr)
c.319+2082A>C
c.1207A>C (p.Arg403=)
 dbSNP
11g.71435730T=CA1981486989DHCR7c.1073A= (p.Lys358=)
c.899A= (p.Lys300=)
c.1124A= (p.Lys375=)
c.1109A= (p.Lys370=)
c.1081A= (p.Arg361=)
n.1113A=
c.488A= (p.Lys163=)
c.977A= (p.Lys326=)
c.574A= (p.Arg192=)
c.323A= (p.Lys108=)
c.319+2082A=
c.1207A= (p.Arg403=)
11g.71435731delCA1981486990DHCR7c.1073del (p.Lys358ArgfsTer?)
c.899del (p.Lys300ArgfsTer?)
c.1124del (p.Lys375ArgfsTer?)
c.1109del (p.Lys370ArgfsTer?)
c.1081del (p.Arg361GlyfsTer?)
n.1113del
c.488del (p.Lys163ArgfsTer?)
c.977del (p.Lys326ArgfsTer?)
c.574del (p.Arg192GlyfsTer?)
c.323del (p.Lys108ArgfsTer?)
c.319+2082del
c.1207del (p.Arg403GlyfsTer?)
 dbSNP
11g.71435731T>ACA381702156DHCR7c.1072A>T (p.Lys358Ter)
c.898A>T (p.Lys300Ter)
c.1123A>T (p.Lys375Ter)
c.1108A>T (p.Lys370Ter)
c.1080A>T (p.Arg360Ser)
n.1112A>T
c.487A>T (p.Lys163Ter)
c.976A>T (p.Lys326Ter)
c.573A>T (p.Arg191Ser)
c.322A>T (p.Lys108Ter)
c.319+2081A>T
c.1206A>T (p.Arg402Ser)
11g.71435731T>CCA381702157DHCR7c.1072A>G (p.Lys358Glu)
c.898A>G (p.Lys300Glu)
c.1123A>G (p.Lys375Glu)
c.1108A>G (p.Lys370Glu)
c.1080A>G (p.Arg360=)
n.1112A>G
c.487A>G (p.Lys163Glu)
c.976A>G (p.Lys326Glu)
c.573A>G (p.Arg191=)
c.322A>G (p.Lys108Glu)
c.319+2081A>G
c.1206A>G (p.Arg402=)
11g.71435731T>GCA381702158DHCR7c.1072A>C (p.Lys358Gln)
c.898A>C (p.Lys300Gln)
c.1123A>C (p.Lys375Gln)
c.1108A>C (p.Lys370Gln)
c.1080A>C (p.Arg360Ser)
n.1112A>C
c.487A>C (p.Lys163Gln)
c.976A>C (p.Lys326Gln)
c.573A>C (p.Arg191Ser)
c.322A>C (p.Lys108Gln)
c.319+2081A>C
c.1206A>C (p.Arg402Ser)
11g.71435732C>ACA6162322DHCR7c.1071G>T (p.Gln357His)
c.897G>T (p.Gln299His)
c.1122G>T (p.Gln374His)
c.1107G>T (p.Gln369His)
c.1079G>T (p.Arg360Ile)
n.1111G>T
c.486G>T (p.Gln162His)
c.975G>T (p.Gln325His)
c.572G>T (p.Arg191Ile)
c.321G>T (p.Gln107His)
c.319+2080G>T
c.1205G>T (p.Arg402Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435732C=CA1981486991DHCR7c.1071G= (p.Gln357=)
c.897G= (p.Gln299=)
c.1122G= (p.Gln374=)
c.1107G= (p.Gln369=)
c.1079G= (p.Arg360=)
n.1111G=
c.486G= (p.Gln162=)
c.975G= (p.Gln325=)
c.572G= (p.Arg191=)
c.321G= (p.Gln107=)
c.319+2080G=
c.1205G= (p.Arg402=)
11g.71435732C>GCA381702159DHCR7c.1071G>C (p.Gln357His)
c.897G>C (p.Gln299His)
c.1122G>C (p.Gln374His)
c.1107G>C (p.Gln369His)
c.1079G>C (p.Arg360Thr)
n.1111G>C
c.486G>C (p.Gln162His)
c.975G>C (p.Gln325His)
c.572G>C (p.Arg191Thr)
c.321G>C (p.Gln107His)
c.319+2080G>C
c.1205G>C (p.Arg402Thr)
11g.71435732C>TCA381702160DHCR7c.1071G>A (p.Gln357=)
c.897G>A (p.Gln299=)
c.1122G>A (p.Gln374=)
c.1107G>A (p.Gln369=)
c.1079G>A (p.Arg360Lys)
n.1111G>A
c.486G>A (p.Gln162=)
c.975G>A (p.Gln325=)
c.572G>A (p.Arg191Lys)
c.321G>A (p.Gln107=)
c.319+2080G>A
c.1205G>A (p.Arg402Lys)
11g.71435733T>ACA381702161DHCR7c.1070A>T (p.Gln357Leu)
c.896A>T (p.Gln299Leu)
c.1121A>T (p.Gln374Leu)
c.1106A>T (p.Gln369Leu)
c.1078A>T (p.Arg360Ter)
n.1110A>T
c.485A>T (p.Gln162Leu)
c.974A>T (p.Gln325Leu)
c.571A>T (p.Arg191Ter)
c.320A>T (p.Gln107Leu)
c.319+2079A>T
c.1204A>T (p.Arg402Ter)
11g.71435733T>CCA381702162DHCR7c.1070A>G (p.Gln357Arg)
c.896A>G (p.Gln299Arg)
c.1121A>G (p.Gln374Arg)
c.1106A>G (p.Gln369Arg)
c.1078A>G (p.Arg360Gly)
n.1110A>G
c.485A>G (p.Gln162Arg)
c.974A>G (p.Gln325Arg)
c.571A>G (p.Arg191Gly)
c.320A>G (p.Gln107Arg)
c.319+2079A>G
c.1204A>G (p.Arg402Gly)
 gnomAD v4
11g.71435733T>GCA381702163DHCR7c.1070A>C (p.Gln357Pro)
c.896A>C (p.Gln299Pro)
c.1121A>C (p.Gln374Pro)
c.1106A>C (p.Gln369Pro)
c.1078A>C (p.Arg360=)
n.1110A>C
c.485A>C (p.Gln162Pro)
c.974A>C (p.Gln325Pro)
c.571A>C (p.Arg191=)
c.320A>C (p.Gln107Pro)
c.319+2079A>C
c.1204A>C (p.Arg402=)
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.71435734G>ACA381702164DHCR7c.1069C>T (p.Gln357Ter)
c.895C>T (p.Gln299Ter)
c.1120C>T (p.Gln374Ter)
c.1105C>T (p.Gln369Ter)
c.1077C>T (p.Thr359=)
n.1109C>T
c.484C>T (p.Gln162Ter)
c.973C>T (p.Gln325Ter)
c.570C>T (p.Thr190=)
c.319C>T (p.Gln107Ter)
c.319+2078C>T
c.1203C>T (p.Thr401=)
11g.71435734G>CCA381702166DHCR7c.1069C>G (p.Gln357Glu)
c.895C>G (p.Gln299Glu)
c.1120C>G (p.Gln374Glu)
c.1105C>G (p.Gln369Glu)
c.1077C>G (p.Thr359=)
n.1109C>G
c.484C>G (p.Gln162Glu)
c.973C>G (p.Gln325Glu)
c.570C>G (p.Thr190=)
c.319C>G (p.Gln107Glu)
c.319+2078C>G
c.1203C>G (p.Thr401=)
11g.71435734G>TCA381702170DHCR7c.1069C>A (p.Gln357Lys)
c.895C>A (p.Gln299Lys)
c.1120C>A (p.Gln374Lys)
c.1105C>A (p.Gln369Lys)
c.1077C>A (p.Thr359=)
n.1109C>A
c.484C>A (p.Gln162Lys)
c.973C>A (p.Gln325Lys)
c.570C>A (p.Thr190=)
c.319C>A (p.Gln107Lys)
c.319+2078C>A
c.1203C>A (p.Thr401=)
11g.71435735G>ACA381702171DHCR7c.1068C>T (p.His356=)
c.894C>T (p.His298=)
c.1119C>T (p.His373=)
c.1104C>T (p.His368=)
c.1076C>T (p.Thr359Ile)
n.1108C>T
c.483C>T (p.His161=)
c.972C>T (p.His324=)
c.569C>T (p.Thr190Ile)
c.318C>T (p.His106=)
c.319+2077C>T
c.1202C>T (p.Thr401Ile)
 dbSNP gnomAD v2
11g.71435735G>CCA381702174DHCR7c.1068C>G (p.His356Gln)
c.894C>G (p.His298Gln)
c.1119C>G (p.His373Gln)
c.1104C>G (p.His368Gln)
c.1076C>G (p.Thr359Ser)
n.1108C>G
c.483C>G (p.His161Gln)
c.972C>G (p.His324Gln)
c.569C>G (p.Thr190Ser)
c.318C>G (p.His106Gln)
c.319+2077C>G
c.1202C>G (p.Thr401Ser)
11g.71435735G=CA1981486992DHCR7c.1068C= (p.His356=)
c.894C= (p.His298=)
c.1119C= (p.His373=)
c.1104C= (p.His368=)
c.1076C= (p.Thr359=)
n.1108C=
c.483C= (p.His161=)
c.972C= (p.His324=)
c.569C= (p.Thr190=)
c.318C= (p.His106=)
c.319+2077C=
c.1202C= (p.Thr401=)
11g.71435735G>TCA381702173DHCR7c.1068C>A (p.His356Gln)
c.894C>A (p.His298Gln)
c.1119C>A (p.His373Gln)
c.1104C>A (p.His368Gln)
c.1076C>A (p.Thr359Asn)
n.1108C>A
c.483C>A (p.His161Gln)
c.972C>A (p.His324Gln)
c.569C>A (p.Thr190Asn)
c.318C>A (p.His106Gln)
c.319+2077C>A
c.1202C>A (p.Thr401Asn)
11g.71435736T>ACA381702176DHCR7c.1067A>T (p.His356Leu)
c.893A>T (p.His298Leu)
c.1118A>T (p.His373Leu)
c.1103A>T (p.His368Leu)
c.1075A>T (p.Thr359Ser)
n.1107A>T
c.482A>T (p.His161Leu)
c.971A>T (p.His324Leu)
c.568A>T (p.Thr190Ser)
c.317A>T (p.His106Leu)
c.319+2076A>T
c.1201A>T (p.Thr401Ser)
11g.71435736T>CCA381702179DHCR7c.1067A>G (p.His356Arg)
c.893A>G (p.His298Arg)
c.1118A>G (p.His373Arg)
c.1103A>G (p.His368Arg)
c.1075A>G (p.Thr359Ala)
n.1107A>G
c.482A>G (p.His161Arg)
c.971A>G (p.His324Arg)
c.568A>G (p.Thr190Ala)
c.317A>G (p.His106Arg)
c.319+2076A>G
c.1201A>G (p.Thr401Ala)
11g.71435736T>GCA381702178DHCR7c.1067A>C (p.His356Pro)
c.893A>C (p.His298Pro)
c.1118A>C (p.His373Pro)
c.1103A>C (p.His368Pro)
c.1075A>C (p.Thr359Pro)
n.1107A>C
c.482A>C (p.His161Pro)
c.971A>C (p.His324Pro)
c.568A>C (p.Thr190Pro)
c.317A>C (p.His106Pro)
c.319+2076A>C
c.1201A>C (p.Thr401Pro)
11g.71435736_71435737delinsTGCA1981486993DHCR7c.1066_1067delinsCA (p.His356=)
c.892_893delinsCA (p.His298=)
c.1117_1118delinsCA (p.His373=)
c.1102_1103delinsCA (p.His368=)
c.1074_1075delinsCA (p.Thr358=)
n.1106_1107delinsCA
c.481_482delinsCA (p.His161=)
c.970_971delinsCA (p.His324=)
c.567_568delinsCA (p.Thr189=)
c.316_317delinsCA (p.His106=)
c.319+2075_319+2076delinsCA
c.1200_1201delinsCA (p.Thr400=)
11g.71435737G>ACA381702181DHCR7c.1066C>T (p.His356Tyr)
c.892C>T (p.His298Tyr)
c.1117C>T (p.His373Tyr)
c.1102C>T (p.His368Tyr)
c.1074C>T (p.Thr358=)
n.1106C>T
c.481C>T (p.His161Tyr)
c.970C>T (p.His324Tyr)
c.567C>T (p.Thr189=)
c.316C>T (p.His106Tyr)
c.319+2075C>T
c.1200C>T (p.Thr400=)
11g.71435737G>CCA381702183DHCR7c.1066C>G (p.His356Asp)
c.892C>G (p.His298Asp)
c.1117C>G (p.His373Asp)
c.1102C>G (p.His368Asp)
c.1074C>G (p.Thr358=)
n.1106C>G
c.481C>G (p.His161Asp)
c.970C>G (p.His324Asp)
c.567C>G (p.Thr189=)
c.316C>G (p.His106Asp)
c.319+2075C>G
c.1200C>G (p.Thr400=)
11g.71435737G>TCA381702184DHCR7c.1066C>A (p.His356Asn)
c.892C>A (p.His298Asn)
c.1117C>A (p.His373Asn)
c.1102C>A (p.His368Asn)
c.1074C>A (p.Thr358=)
n.1106C>A
c.481C>A (p.His161Asn)
c.970C>A (p.His324Asn)
c.567C>A (p.Thr189=)
c.316C>A (p.His106Asn)
c.319+2075C>A
c.1200C>A (p.Thr400=)
 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)

Number of alleles fetched