Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71435740T>A | CA381702196 | DHCR7 | c.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=) | |
11 | g.71435740T>C | CA381702202 | DHCR7 | c.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 |
11 | g.71435740T>G | CA381702204 | DHCR7 | c.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=) | |
11 | g.71435740T= | CA1981486996 | DHCR7 | c.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=) | |
11 | g.71435741G>A | CA381702207 | DHCR7 | c.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) | |
11 | g.71435741G>C | CA6162324 | DHCR7 | c.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 |
11 | g.71435741G= | CA1981486997 | DHCR7 | c.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=) | |
11 | g.71435741G>T | CA381702208 | DHCR7 | c.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) | |
11 | g.71435742G>A | CA381702210 | DHCR7 | c.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) | |
11 | g.71435742G>C | CA381702213 | DHCR7 | c.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) | |
11 | g.71435742G>T | CA381702212 | DHCR7 | c.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) | |
11 | g.71435743C>A | CA381702214 | DHCR7 | c.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) | |
11 | g.71435743C= | CA1981486998 | DHCR7 | c.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=) | |
11 | g.71435743C>G | CA381702215 | DHCR7 | c.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) | |
11 | g.71435743C>T | CA224324519 | DHCR7 | c.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 |
11 | g.71435744C>A | CA381702217 | DHCR7 | c.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) | |
11 | g.71435744C= | CA1981486999 | DHCR7 | c.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=) | |
11 | g.71435744C>G | CA381702219 | DHCR7 | c.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) | |
11 | g.71435744C>T | CA6162325 | DHCR7 | c.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 |
11 | g.71435745_71435746del | CA912973035 | DHCR7 | c.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?) | |
11 | g.71435745A>C | CA381702221 | DHCR7 | c.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) | |
11 | g.71435745A>G | CA381702222 | DHCR7 | c.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) | |
11 | g.71435745A>T | CA381702223 | DHCR7 | c.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) | |
11 | g.71435745_71435746delinsAC | CA1981487000 | DHCR7 | c.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=) | |
11 | g.71435746C>A | CA381702229 | DHCR7 | c.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=) | |
11 | g.71435746C= | CA1981487001 | DHCR7 | c.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=) | |
11 | g.71435746C>G | CA381702227 | DHCR7 | c.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=) | |
11 | g.71435746C>T | CA381702230 | DHCR7 | c.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 |
11 | g.71435748dup | CA2842972958 | DHCR7 | c.1057dup (p.Val353GlyfsTer?) c.883dup (p.Val295GlyfsTer?) c.1108dup (p.Val370GlyfsTer?) c.1093dup (p.Val365GlyfsTer?) c.1065dup (p.Trp356ValfsTer?) n.1097dup c.472dup (p.Val158GlyfsTer?) c.961dup (p.Val321GlyfsTer?) c.558dup (p.Trp187ValfsTer?) c.307dup (p.Val103GlyfsTer?) c.319+2066dup c.1191dup (p.Trp398ValfsTer?) | |
11 | g.71435748del | CA6162326 | DHCR7 | c.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 |
11 | g.71435747C>A | CA381702232 | DHCR7 | c.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 |
11 | g.71435747C= | CA1981487002 | DHCR7 | c.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=) | |
11 | g.71435747C>G | CA381702234 | DHCR7 | c.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) | |
11 | g.71435747C>T | CA381702237 | DHCR7 | c.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 |
11 | g.71435748C>A | CA6162327 | DHCR7 | c.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 |
11 | g.71435748C= | CA1981487003 | DHCR7 | c.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=) | |
11 | g.71435748C>G | CA381702240 | DHCR7 | c.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) | |
11 | g.71435748C>T | CA253952 | DHCR7 | c.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 |
11 | g.71435749G>A | CA340612 | DHCR7 | c.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 |
11 | g.71435749G>C | CA381702242 | DHCR7 | c.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 |
11 | g.71435749G= | CA1981487004 | DHCR7 | c.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=) | |
11 | g.71435749G>T | CA475861132 | DHCR7 | c.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 |
11 | g.71435750G>A | CA381702243 | DHCR7 | c.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 |
11 | g.71435750G>C | CA381702245 | DHCR7 | c.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 |
11 | g.71435750G= | CA1981487005 | DHCR7 | c.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=) | |
11 | g.71435750G>T | CA224324601 | DHCR7 | c.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 |
11 | g.71435751A= | CA1981487006 | DHCR7 | c.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=) | |
11 | g.71435751A>C | CA381702248 | DHCR7 | c.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) | |
11 | g.71435751A>G | CA224324603 | DHCR7 | c.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 |
11 | g.71435751A>T | CA381702247 | DHCR7 | c.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) | |
11 | g.71435752A>C | CA381702250 | DHCR7 | c.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=) | |
11 | g.71435752A>G | CA381702251 | DHCR7 | c.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=) | |
11 | g.71435752A>T | CA381702253 | DHCR7 | c.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=) | |
11 | g.71435753G>A | CA381702255 | DHCR7 | c.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 |
11 | g.71435753G>C | CA381702256 | DHCR7 | c.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) | |
11 | g.71435753G>T | CA381702257 | DHCR7 | c.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) | |
11 | g.71435754A>C | CA381702259 | DHCR7 | c.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) | |
11 | g.71435754A>G | CA381702260 | DHCR7 | c.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) | |
11 | g.71435754A>T | CA381702262 | DHCR7 | c.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) | |
11 | g.71435755T>A | CA381702263 | DHCR7 | c.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=) | |
11 | g.71435755T>C | CA381702264 | DHCR7 | c.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 |
11 | g.71435755T>G | CA381702266 | DHCR7 | c.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=) | |
11 | g.71435755T= | CA1981487007 | DHCR7 | c.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=) | |
11 | g.71435755_71435758delinsTGTA | CA1981487008 | DHCR7 | c.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=) | |
11 | g.71435756G>A | CA381702271 | DHCR7 | c.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 |
11 | g.71435756G>C | CA381702270 | DHCR7 | c.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) | |
11 | g.71435756G>T | CA381702268 | DHCR7 | c.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) | |
11 | g.71435760_71435762del | CA939372181 | DHCR7 | c.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 |
11 | g.71435757T>A | CA381702273 | DHCR7 | c.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) | |
11 | g.71435757T>C | CA381702276 | DHCR7 | c.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) | |
11 | g.71435757T>G | CA381702275 | DHCR7 | c.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) | |
11 | g.71435757dup | CA2614857284 | DHCR7 | c.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 |
11 | g.71435758A>C | CA381702278 | DHCR7 | c.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=) | |
11 | g.71435758A>G | CA381702280 | DHCR7 | c.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=) | |
11 | g.71435758A>T | CA381702281 | DHCR7 | c.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=) | |
11 | g.71435759G>A | CA381702283 | DHCR7 | c.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 |
11 | g.71435759G>C | CA381702284 | DHCR7 | c.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) | |
11 | g.71435759G>T | CA381702286 | DHCR7 | c.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) | |
11 | g.71435760T>A | CA381702288 | DHCR7 | c.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) | |
11 | g.71435760T>C | CA381702289 | DHCR7 | c.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 |
11 | g.71435760T>G | CA381702292 | DHCR7 | c.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) | |
11 | g.71435760T= | CA1981487009 | DHCR7 | c.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=) | |
11 | g.71435761A>C | CA381702297 | DHCR7 | c.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=) | |
11 | g.71435761A>G | CA381702296 | DHCR7 | c.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=) | |
11 | g.71435761A>T | CA381702295 | DHCR7 | c.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=) | |
11 | g.71435761_71435770dup | CA6162328 | DHCR7 | c.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 |
11 | g.71435762G>A | CA381702299 | DHCR7 | c.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 |
11 | g.71435762G>C | CA381702300 | DHCR7 | c.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) | |
11 | g.71435762G= | CA1981487010 | DHCR7 | c.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=) | |
11 | g.71435762G>T | CA381702302 | DHCR7 | c.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) | |
11 | g.71435763C>A | CA6162329 | DHCR7 | c.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 |
11 | g.71435763C= | CA1981487011 | DHCR7 | c.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=) | |
11 | g.71435763C>G | CA381702304 | DHCR7 | c.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) | |
11 | g.71435763C>T | CA381702306 | DHCR7 | c.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) | |
11 | g.71435765del | CA2838688363 | DHCR7 | c.1040del (p.Gly347AlafsTer?) c.866del (p.Gly289AlafsTer?) c.1091del (p.Gly364AlafsTer?) c.1076del (p.Gly359AlafsTer?) c.1048del (p.Ala350LeufsTer?) n.1080del c.455del (p.Gly152AlafsTer?) c.944del (p.Gly315AlafsTer?) c.541del (p.Ala181LeufsTer?) c.290del (p.Gly97AlafsTer?) c.319+2049del c.1174del (p.Ala392LeufsTer?) | |
11 | g.71435764C>A | CA381702308 | DHCR7 | c.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 |
11 | g.71435764C>G | CA381702310 | DHCR7 | c.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) | |
11 | g.71435764C>T | CA381702314 | DHCR7 | c.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 |
11 | g.71435765C>A | CA381702316 | DHCR7 | c.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 |
11 | g.71435765C>G | CA381702317 | DHCR7 | c.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) | |
11 | g.71435765C>T | CA381702319 | DHCR7 | c.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) | |
11 | g.71435766A= | CA1981487012 | DHCR7 | c.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=) | |
11 | g.71435766A>C | CA381702320 | DHCR7 | c.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 |
11 | g.71435766A>G | CA381702321 | DHCR7 | c.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) | |
11 | g.71435766A>T | CA224324615 | DHCR7 | c.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 |
11 | g.71435767C>A | CA381702323 | DHCR7 | c.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) | |
11 | g.71435767C>G | CA381702325 | DHCR7 | c.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 |
11 | g.71435767C>T | CA381702330 | DHCR7 | c.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) | |
11 | g.71435768C>A | CA381702332 | DHCR7 | c.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) | |
11 | g.71435768C= | CA1981487013 | DHCR7 | c.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=) | |
11 | g.71435768C>G | CA6162330 | DHCR7 | c.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 |
11 | g.71435768C>T | CA381702337 | DHCR7 | c.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 |
11 | g.71435769A>C | CA381702342 | DHCR7 | c.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) | |
11 | g.71435769A>G | CA381702339 | DHCR7 | c.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 |
11 | g.71435769A>T | CA381702340 | DHCR7 | c.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) | |
11 | g.71435770G>A | CA475860838 | DHCR7 | c.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 |
11 | g.71435770G>C | CA381702346 | DHCR7 | c.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=) | |
11 | g.71435770G>T | CA381702348 | DHCR7 | c.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=) | |
11 | g.71435771G>A | CA381702349 | DHCR7 | c.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) | |
11 | g.71435771G>C | CA381702350 | DHCR7 | c.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) | |
11 | g.71435771G>T | CA381702351 | DHCR7 | c.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 |
11 | g.71435772C>A | CA381702353 | DHCR7 | c.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) | |
11 | g.71435772C= | CA1981487014 | DHCR7 | c.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=) | |
11 | g.71435772C>G | CA381702356 | DHCR7 | c.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) | |
11 | g.71435772C>T | CA381702355 | DHCR7 | c.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 |
11 | g.71435774del | CA2697548785 | DHCR7 | c.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 |
11 | g.71435773C>A | CA381702357 | DHCR7 | c.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) | |
11 | g.71435773C= | CA1981487015 | DHCR7 | c.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=) | |
11 | g.71435773C>G | CA381702358 | DHCR7 | c.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) | |
11 | g.71435773C>T | CA224324622 | DHCR7 | c.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 |
11 | g.71435774C>A | CA381702359 | DHCR7 | c.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) | |
11 | g.71435774C>G | CA381702361 | DHCR7 | c.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) | |
11 | g.71435774C>T | CA381702362 | DHCR7 | c.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 |
11 | g.71435775A>C | CA381702363 | DHCR7 | c.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 |
11 | g.71435775A>G | CA381702364 | DHCR7 | c.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) | |
11 | g.71435775A>T | CA381702366 | DHCR7 | c.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) | |
11 | g.71435776G>A | CA475860839 | DHCR7 | c.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=) | |
11 | g.71435776G>C | CA381702367 | DHCR7 | c.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) | |
11 | g.71435776G>T | CA381702369 | DHCR7 | c.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) | |
11 | g.71435777C>A | CA381702371 | DHCR7 | c.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) | |
11 | g.71435777C>G | CA381702374 | DHCR7 | c.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) | |
11 | g.71435777C>T | CA381702372 | DHCR7 | c.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 |
11 | g.71435778A= | CA1981487016 | DHCR7 | c.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=) | |
11 | g.71435778A>C | CA381702376 | DHCR7 | c.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) | |
11 | g.71435778A>G | CA224324629 | DHCR7 | c.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 |
11 | g.71435778A>T | CA381702378 | DHCR7 | c.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) | |
11 | g.71435779G>A | CA475860840 | DHCR7 | c.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=) | |
11 | g.71435779G>C | CA381702380 | DHCR7 | c.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) | |
11 | g.71435779G>T | CA381702382 | DHCR7 | c.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) | |
11 | g.71435780C>A | CA381702383 | DHCR7 | c.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 |
11 | g.71435780C= | CA1981487017 | DHCR7 | c.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=) | |
11 | g.71435780C>G | CA381702384 | DHCR7 | c.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 |
11 | g.71435780C>T | CA381702386 | DHCR7 | c.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) | |
11 | g.71435781A= | CA1981487018 | DHCR7 | c.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=) | |
11 | g.71435781A>C | CA381702388 | DHCR7 | c.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) | |
11 | g.71435781A>G | CA381702390 | DHCR7 | c.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 |
11 | g.71435781A>T | CA381702391 | DHCR7 | c.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) | |
11 | g.71435782G>A | CA475860841 | DHCR7 | c.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=) | |
11 | g.71435782G>C | CA381702393 | DHCR7 | c.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=) | |
11 | g.71435782G>T | CA381702394 | DHCR7 | c.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=) | |
11 | g.71435784_71435793del | CA912973036 | DHCR7 | c.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?) | |
11 | g.71435783G>A | CA6162331 | DHCR7 | c.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 |
11 | g.71435783G>C | CA381702397 | DHCR7 | c.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) | |
11 | g.71435783G= | CA1981487019 | DHCR7 | c.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=) | |
11 | g.71435783G>T | CA381702398 | DHCR7 | c.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 |
11 | g.71435784A>C | CA381702400 | DHCR7 | c.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) | |
11 | g.71435784A>G | CA381702402 | DHCR7 | c.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) | |
11 | g.71435784A>T | CA381702403 | DHCR7 | c.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 |
11 | g.71435784_71435793delinsACGCCCACGG | CA1981487020 | DHCR7 | c.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=) | |
11 | g.71435785C>A | CA381702405 | DHCR7 | c.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 |
11 | g.71435785C= | CA1981487021 | DHCR7 | c.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=) | |
11 | g.71435785C>G | CA381702408 | DHCR7 | c.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=) | |
11 | g.71435785C>T | CA6162332 | DHCR7 | c.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 |
11 | g.71435787_71435795del | CA658823152 | DHCR7 | c.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 |
11 | g.71435786G>A | CA6162333 | DHCR7 | c.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 |
11 | g.71435786G>C | CA381702411 | DHCR7 | c.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 |
11 | g.71435786G= | CA1981487022 | DHCR7 | c.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=) | |
11 | g.71435786G>T | CA381702413 | DHCR7 | c.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 |
11 | g.71435787C>A | CA381702414 | DHCR7 | c.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) | |
11 | g.71435787C>G | CA381702415 | DHCR7 | c.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) | |
11 | g.71435787C>T | CA381702417 | DHCR7 | c.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) | |
11 | g.71435789del | CA2839231221 | DHCR7 | c.1016del (p.Gly339AlafsTer?) c.842del (p.Gly281AlafsTer?) c.1067del (p.Gly356AlafsTer?) c.1052del (p.Gly351AlafsTer?) c.1024del (p.Ala342ArgfsTer?) n.1056del c.431del (p.Gly144AlafsTer?) c.920del (p.Gly307AlafsTer?) c.517del (p.Ala173ArgfsTer?) c.266del (p.Gly89AlafsTer?) c.319+2025del c.1150del (p.Ala384ArgfsTer?) | |
11 | g.71435788C>A | CA381702421 | DHCR7 | c.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) | |
11 | g.71435788C>G | CA381702422 | DHCR7 | c.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) | |
11 | g.71435788C>T | CA381702424 | DHCR7 | c.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) | |
11 | g.71435789C>A | CA381702425 | DHCR7 | c.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) | |
11 | g.71435789C>G | CA381702426 | DHCR7 | c.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) | |
11 | g.71435789C>T | CA381702428 | DHCR7 | c.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) | |
11 | g.71435790A>C | CA381702429 | DHCR7 | c.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) | |
11 | g.71435790A>G | CA381702433 | DHCR7 | c.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) | |
11 | g.71435790A>T | CA381702431 | DHCR7 | c.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) | |
11 | g.71435791del | CA2580084833 | DHCR7 | c.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 |
11 | g.71435791C>A | CA381702434 | DHCR7 | c.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=) | |
11 | g.71435791C= | CA1981487023 | DHCR7 | c.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=) | |
11 | g.71435791C>G | CA381702436 | DHCR7 | c.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=) | |
11 | g.71435791C>T | CA221647 | DHCR7 | c.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 |
11 | g.71435792G>A | CA6162334 | DHCR7 | c.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 |
11 | g.71435792G>C | CA381702438 | DHCR7 | c.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 |
11 | g.71435792G= | CA1981487024 | DHCR7 | c.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=) | |
11 | g.71435792G>T | CA381702439 | DHCR7 | c.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) | |
11 | g.71435793G>A | CA381702444 | DHCR7 | c.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) | |
11 | g.71435793G>C | CA381702447 | DHCR7 | c.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) | |
11 | g.71435793G>T | CA381702448 | DHCR7 | c.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) | |
11 | g.71435794C>A | CA381702450 | DHCR7 | c.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=) | |
11 | g.71435794C= | CA1981487025 | DHCR7 | c.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=) | |
11 | g.71435794C>G | CA381702451 | DHCR7 | c.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=) | |
11 | g.71435794C>T | CA6162335 | DHCR7 | c.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 |
11 | g.71435795G>A | CA179966 | DHCR7 | c.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 |
11 | g.71435795G>C | CA381702453 | DHCR7 | c.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) | |
11 | g.71435795G= | CA1981487026 | DHCR7 | c.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=) | |
11 | g.71435795G>T | CA381702452 | DHCR7 | c.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 |
11 | g.71435796T>A | CA381702454 | DHCR7 | c.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) | |
11 | g.71435796T>C | CA381702455 | DHCR7 | c.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) | |
11 | g.71435796T>G | CA381702456 | DHCR7 | c.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) | |
11 | g.71435797G>A | CA381702457 | DHCR7 | c.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=) | |
11 | g.71435797G>C | CA381702459 | DHCR7 | c.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=) | |
11 | g.71435797G>T | CA381702461 | DHCR7 | c.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 |
11 | g.71435798_71435799del | CA912973037 | DHCR7 | c.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?) | |
11 | g.71435797_71435813del | CA2614857308 | DHCR7 | c.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 |
11 | g.71435798C>A | CA224324681 | DHCR7 | c.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 |
11 | g.71435798C= | CA1981487028 | DHCR7 | c.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=) | |
11 | g.71435798C>G | CA381702463 | DHCR7 | c.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 |
11 | g.71435798C>T | CA6162336 | DHCR7 | c.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 |
11 | g.71435798_71435799delinsCG | CA1981487027 | DHCR7 | c.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=) | |
11 | g.71435799G>A | CA6162337 | DHCR7 | c.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 |
11 | g.71435799G>C | CA6162338 | DHCR7 | c.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 |
11 | g.71435799G= | CA1981487029 | DHCR7 | c.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=) | |
11 | g.71435799G>T | CA381702468 | DHCR7 | c.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 |
11 | g.71435802del | CA658823153 | DHCR7 | c.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 |
11 | g.71435800G>A | CA381702472 | DHCR7 | c.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 |
11 | g.71435800G>C | CA381702469 | DHCR7 | c.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 |
11 | g.71435800G= | CA1981487030 | DHCR7 | c.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=) | |
11 | g.71435800G>T | CA381702470 | DHCR7 | c.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 |
11 | g.71435801G>A | CA381702474 | DHCR7 | c.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) | |
11 | g.71435801G>C | CA381702476 | DHCR7 | c.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) | |
11 | g.71435801G= | CA1981487031 | DHCR7 | c.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=) | |
11 | g.71435801G>T | CA6162339 | DHCR7 | c.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 |
11 | g.71435802G>A | CA6162340 | DHCR7 | c.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 |
11 | g.71435802G>C | CA381702482 | DHCR7 | c.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) | |
11 | g.71435802G= | CA1981487032 | DHCR7 | c.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=) | |
11 | g.71435802G>T | CA224324727 | DHCR7 | c.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 |
11 | g.71435803T>A | CA381702486 | DHCR7 | c.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 |
11 | g.71435803T>C | CA6162341 | DHCR7 | c.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 |
11 | g.71435803T>G | CA381702484 | DHCR7 | c.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 |
11 | g.71435803T= | CA1981487033 | DHCR7 | c.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=) | |
11 | g.71435804G>A | CA381702488 | DHCR7 | c.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 |
11 | g.71435804G>C | CA381702489 | DHCR7 | c.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) | |
11 | g.71435804G= | CA1981487034 | DHCR7 | c.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=) | |
11 | g.71435804G>T | CA381702491 | DHCR7 | c.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) | |
11 | g.71435805G>A | CA381702494 | DHCR7 | c.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 |
11 | g.71435805G>C | CA381702495 | DHCR7 | c.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) | |
11 | g.71435805G= | CA1981487035 | DHCR7 | c.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=) | |
11 | g.71435805G>T | CA381702497 | DHCR7 | c.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) | |
11 | g.71435806A>C | CA381702498 | DHCR7 | c.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) | |
11 | g.71435806A>G | CA381702500 | DHCR7 | c.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=) | |
11 | g.71435806A>T | CA381702499 | DHCR7 | c.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) | |
11 | g.71435807C>A | CA381702501 | DHCR7 | c.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) | |
11 | g.71435807C= | CA1981487037 | DHCR7 | c.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=) | |
11 | g.71435807C>G | CA381702502 | DHCR7 | c.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 |
11 | g.71435807C>T | CA381702503 | DHCR7 | c.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 |
11 | g.71435807_71435808delinsCA | CA1981487036 | DHCR7 | c.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=) | |
11 | g.71435808del | CA16041547 | DHCR7 | c.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 |
11 | g.71435808A>C | CA381702504 | DHCR7 | c.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) | |
11 | g.71435808A>G | CA381702505 | DHCR7 | c.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) | |
11 | g.71435808A>T | CA381702506 | DHCR7 | c.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) | |
11 | g.71435809G>A | CA475860847 | DHCR7 | c.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=) | |
11 | g.71435809G>C | CA381702507 | DHCR7 | c.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) | |
11 | g.71435809G>T | CA381702508 | DHCR7 | c.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) | |
11 | g.71435810C>A | CA381702510 | DHCR7 | c.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 |
11 | g.71435810C>G | CA381702512 | DHCR7 | c.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) | |
11 | g.71435810C>T | CA381702513 | DHCR7 | c.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) | |
11 | g.71435811T>A | CA381702514 | DHCR7 | c.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) | |
11 | g.71435811T>C | CA381702516 | DHCR7 | c.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) | |
11 | g.71435811T>G | CA381702515 | DHCR7 | c.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) | |
11 | g.71435812G>A | CA16041548 | DHCR7 | c.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 |
11 | g.71435812G>C | CA381702517 | DHCR7 | c.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 |
11 | g.71435812G= | CA1981487038 | DHCR7 | c.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=) | |
11 | g.71435812G>T | CA381702518 | DHCR7 | c.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) | |
11 | g.71435813C>A | CA381702519 | DHCR7 | c.990G>T (p.Val330=) c.816G>T (p.Val272=) c.1041G>T (p.Val347=) c.1026G>T (p.Val342=) c.998G>T (p.Cys333Phe) n.1030G>T c.405G>T (p.Val135=) c.894G>T (p.Val298=) c.491G>T (p.Cys164Phe) c.240G>T (p.Val80=) c.319+1999G>T c.1124G>T (p.Cys375Phe) | |
11 | g.71435813C>G | CA381702520 | DHCR7 | c.990G>C (p.Val330=) c.816G>C (p.Val272=) c.1041G>C (p.Val347=) c.1026G>C (p.Val342=) c.998G>C (p.Cys333Ser) n.1030G>C c.405G>C (p.Val135=) c.894G>C (p.Val298=) c.491G>C (p.Cys164Ser) c.240G>C (p.Val80=) c.319+1999G>C c.1124G>C (p.Cys375Ser) | |
11 | g.71435813C>T | CA381702521 | DHCR7 | c.990G>A (p.Val330=) c.816G>A (p.Val272=) c.1041G>A (p.Val347=) c.1026G>A (p.Val342=) c.998G>A (p.Cys333Tyr) n.1030G>A c.405G>A (p.Val135=) c.894G>A (p.Val298=) c.491G>A (p.Cys164Tyr) c.240G>A (p.Val80=) c.319+1999G>A c.1124G>A (p.Cys375Tyr) | ClinVar dbSNP gnomAD v4 |
11 | g.71435814A>C | CA381702522 | DHCR7 | c.989T>G (p.Val330Gly) c.815T>G (p.Val272Gly) c.1040T>G (p.Val347Gly) c.1025T>G (p.Val342Gly) c.997T>G (p.Cys333Gly) n.1029T>G c.404T>G (p.Val135Gly) c.893T>G (p.Val298Gly) c.490T>G (p.Cys164Gly) c.239T>G (p.Val80Gly) c.319+1998T>G c.1123T>G (p.Cys375Gly) | |
11 | g.71435814A>G | CA381702523 | DHCR7 | c.989T>C (p.Val330Ala) c.815T>C (p.Val272Ala) c.1040T>C (p.Val347Ala) c.1025T>C (p.Val342Ala) c.997T>C (p.Cys333Arg) n.1029T>C c.404T>C (p.Val135Ala) c.893T>C (p.Val298Ala) c.490T>C (p.Cys164Arg) c.239T>C (p.Val80Ala) c.319+1998T>C c.1123T>C (p.Cys375Arg) | |
11 | g.71435814A>T | CA381702524 | DHCR7 | c.989T>A (p.Val330Glu) c.815T>A (p.Val272Glu) c.1040T>A (p.Val347Glu) c.1025T>A (p.Val342Glu) c.997T>A (p.Cys333Ser) n.1029T>A c.404T>A (p.Val135Glu) c.893T>A (p.Val298Glu) c.490T>A (p.Cys164Ser) c.239T>A (p.Val80Glu) c.319+1998T>A c.1123T>A (p.Cys375Ser) | |
11 | g.71435815C>A | CA381702525 | DHCR7 | c.988G>T (p.Val330Leu) c.814G>T (p.Val272Leu) c.1039G>T (p.Val347Leu) c.1024G>T (p.Val342Leu) c.996G>T (p.Pro332=) n.1028G>T c.403G>T (p.Val135Leu) c.892G>T (p.Val298Leu) c.489G>T (p.Pro163=) c.238G>T (p.Val80Leu) c.319+1997G>T c.1122G>T (p.Pro374=) | |
11 | g.71435815C= | CA1981487039 | DHCR7 | c.988G= (p.Val330=) c.814G= (p.Val272=) c.1039G= (p.Val347=) c.1024G= (p.Val342=) c.996G= (p.Pro332=) n.1028G= c.403G= (p.Val135=) c.892G= (p.Val298=) c.489G= (p.Pro163=) c.238G= (p.Val80=) c.319+1997G= c.1122G= (p.Pro374=) | |
11 | g.71435815C>G | CA6162343 | DHCR7 | c.988G>C (p.Val330Leu) c.814G>C (p.Val272Leu) c.1039G>C (p.Val347Leu) c.1024G>C (p.Val342Leu) c.996G>C (p.Pro332=) n.1028G>C c.403G>C (p.Val135Leu) c.892G>C (p.Val298Leu) c.489G>C (p.Pro163=) c.238G>C (p.Val80Leu) c.319+1997G>C c.1122G>C (p.Pro374=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435815C>T | CA6162342 | DHCR7 | c.988G>A (p.Val330Met) c.814G>A (p.Val272Met) c.1039G>A (p.Val347Met) c.1024G>A (p.Val342Met) c.996G>A (p.Pro332=) n.1028G>A c.403G>A (p.Val135Met) c.892G>A (p.Val298Met) c.489G>A (p.Pro163=) c.238G>A (p.Val80Met) c.319+1997G>A c.1122G>A (p.Pro374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435816G>A | CA6162344 | DHCR7 | c.987C>T (p.Pro329=) c.813C>T (p.Pro271=) c.1038C>T (p.Pro346=) c.1023C>T (p.Pro341=) c.995C>T (p.Pro332Leu) n.1027C>T c.402C>T (p.Pro134=) c.891C>T (p.Pro297=) c.488C>T (p.Pro163Leu) c.237C>T (p.Pro79=) c.319+1996C>T c.1121C>T (p.Pro374Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435816G>C | CA381702528 | DHCR7 | c.987C>G (p.Pro329=) c.813C>G (p.Pro271=) c.1038C>G (p.Pro346=) c.1023C>G (p.Pro341=) c.995C>G (p.Pro332Arg) n.1027C>G c.402C>G (p.Pro134=) c.891C>G (p.Pro297=) c.488C>G (p.Pro163Arg) c.237C>G (p.Pro79=) c.319+1996C>G c.1121C>G (p.Pro374Arg) | ClinVar dbSNP |
11 | g.71435816G= | CA1981487040 | DHCR7 | c.987C= (p.Pro329=) c.813C= (p.Pro271=) c.1038C= (p.Pro346=) c.1023C= (p.Pro341=) c.995C= (p.Pro332=) n.1027C= c.402C= (p.Pro134=) c.891C= (p.Pro297=) c.488C= (p.Pro163=) c.237C= (p.Pro79=) c.319+1996C= c.1121C= (p.Pro374=) | |
11 | g.71435816G>T | CA381702527 | DHCR7 | c.987C>A (p.Pro329=) c.813C>A (p.Pro271=) c.1038C>A (p.Pro346=) c.1023C>A (p.Pro341=) c.995C>A (p.Pro332Gln) n.1027C>A c.402C>A (p.Pro134=) c.891C>A (p.Pro297=) c.488C>A (p.Pro163Gln) c.237C>A (p.Pro79=) c.319+1996C>A c.1121C>A (p.Pro374Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435817G>A | CA381702529 | DHCR7 | c.986C>T (p.Pro329Leu) c.812C>T (p.Pro271Leu) c.1037C>T (p.Pro346Leu) c.1022C>T (p.Pro341Leu) c.994C>T (p.Pro332Ser) n.1026C>T c.401C>T (p.Pro134Leu) c.890C>T (p.Pro297Leu) c.487C>T (p.Pro163Ser) c.236C>T (p.Pro79Leu) c.319+1995C>T c.1120C>T (p.Pro374Ser) | ClinVar COSMIC COSMIC |
11 | g.71435817G>C | CA381702530 | DHCR7 | c.986C>G (p.Pro329Arg) c.812C>G (p.Pro271Arg) c.1037C>G (p.Pro346Arg) c.1022C>G (p.Pro341Arg) c.994C>G (p.Pro332Ala) n.1026C>G c.401C>G (p.Pro134Arg) c.890C>G (p.Pro297Arg) c.487C>G (p.Pro163Ala) c.236C>G (p.Pro79Arg) c.319+1995C>G c.1120C>G (p.Pro374Ala) | |
11 | g.71435817G>T | CA381702531 | DHCR7 | c.986C>A (p.Pro329His) c.812C>A (p.Pro271His) c.1037C>A (p.Pro346His) c.1022C>A (p.Pro341His) c.994C>A (p.Pro332Thr) n.1026C>A c.401C>A (p.Pro134His) c.890C>A (p.Pro297His) c.487C>A (p.Pro163Thr) c.236C>A (p.Pro79His) c.319+1995C>A c.1120C>A (p.Pro374Thr) | gnomAD v4 |
11 | g.71435818G>A | CA381702532 | DHCR7 | c.985C>T (p.Pro329Ser) c.811C>T (p.Pro271Ser) c.1036C>T (p.Pro346Ser) c.1021C>T (p.Pro341Ser) c.993C>T (p.Thr331=) n.1025C>T c.400C>T (p.Pro134Ser) c.889C>T (p.Pro297Ser) c.486C>T (p.Thr162=) c.235C>T (p.Pro79Ser) c.319+1994C>T c.1119C>T (p.Thr373=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435818G>C | CA381702533 | DHCR7 | c.985C>G (p.Pro329Ala) c.811C>G (p.Pro271Ala) c.1036C>G (p.Pro346Ala) c.1021C>G (p.Pro341Ala) c.993C>G (p.Thr331=) n.1025C>G c.400C>G (p.Pro134Ala) c.889C>G (p.Pro297Ala) c.486C>G (p.Thr162=) c.235C>G (p.Pro79Ala) c.319+1994C>G c.1119C>G (p.Thr373=) | dbSNP |
11 | g.71435818G= | CA1981487041 | DHCR7 | c.985C= (p.Pro329=) c.811C= (p.Pro271=) c.1036C= (p.Pro346=) c.1021C= (p.Pro341=) c.993C= (p.Thr331=) n.1025C= c.400C= (p.Pro134=) c.889C= (p.Pro297=) c.486C= (p.Thr162=) c.235C= (p.Pro79=) c.319+1994C= c.1119C= (p.Thr373=) | |
11 | g.71435818G>T | CA381702534 | DHCR7 | c.985C>A (p.Pro329Thr) c.811C>A (p.Pro271Thr) c.1036C>A (p.Pro346Thr) c.1021C>A (p.Pro341Thr) c.993C>A (p.Thr331=) n.1025C>A c.400C>A (p.Pro134Thr) c.889C>A (p.Pro297Thr) c.486C>A (p.Thr162=) c.235C>A (p.Pro79Thr) c.319+1994C>A c.1119C>A (p.Thr373=) | gnomAD v4 |
11 | g.71435819G>A | CA381702535 | DHCR7 | c.984C>T (p.His328=) c.810C>T (p.His270=) c.1035C>T (p.His345=) c.1020C>T (p.His340=) c.992C>T (p.Thr331Ile) n.1024C>T c.399C>T (p.His133=) c.888C>T (p.His296=) c.485C>T (p.Thr162Ile) c.234C>T (p.His78=) c.319+1993C>T c.1118C>T (p.Thr373Ile) | dbSNP gnomAD v4 |
11 | g.71435819G>C | CA381702536 | DHCR7 | c.984C>G (p.His328Gln) c.810C>G (p.His270Gln) c.1035C>G (p.His345Gln) c.1020C>G (p.His340Gln) c.992C>G (p.Thr331Ser) n.1024C>G c.399C>G (p.His133Gln) c.888C>G (p.His296Gln) c.485C>G (p.Thr162Ser) c.234C>G (p.His78Gln) c.319+1993C>G c.1118C>G (p.Thr373Ser) | |
11 | g.71435819G= | CA1981487042 | DHCR7 | c.984C= (p.His328=) c.810C= (p.His270=) c.1035C= (p.His345=) c.1020C= (p.His340=) c.992C= (p.Thr331=) n.1024C= c.399C= (p.His133=) c.888C= (p.His296=) c.485C= (p.Thr162=) c.234C= (p.His78=) c.319+1993C= c.1118C= (p.Thr373=) | |
11 | g.71435819G>T | CA381702537 | DHCR7 | c.984C>A (p.His328Gln) c.810C>A (p.His270Gln) c.1035C>A (p.His345Gln) c.1020C>A (p.His340Gln) c.992C>A (p.Thr331Asn) n.1024C>A c.399C>A (p.His133Gln) c.888C>A (p.His296Gln) c.485C>A (p.Thr162Asn) c.234C>A (p.His78Gln) c.319+1993C>A c.1118C>A (p.Thr373Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435820T>A | CA381702538 | DHCR7 | c.983A>T (p.His328Leu) c.809A>T (p.His270Leu) c.1034A>T (p.His345Leu) c.1019A>T (p.His340Leu) c.991A>T (p.Thr331Ser) n.1023A>T c.398A>T (p.His133Leu) c.887A>T (p.His296Leu) c.484A>T (p.Thr162Ser) c.233A>T (p.His78Leu) c.319+1992A>T c.1117A>T (p.Thr373Ser) | |
11 | g.71435820T>C | CA381702539 | DHCR7 | c.983A>G (p.His328Arg) c.809A>G (p.His270Arg) c.1034A>G (p.His345Arg) c.1019A>G (p.His340Arg) c.991A>G (p.Thr331Ala) n.1023A>G c.398A>G (p.His133Arg) c.887A>G (p.His296Arg) c.484A>G (p.Thr162Ala) c.233A>G (p.His78Arg) c.319+1992A>G c.1117A>G (p.Thr373Ala) | |
11 | g.71435820T>G | CA381702540 | DHCR7 | c.983A>C (p.His328Pro) c.809A>C (p.His270Pro) c.1034A>C (p.His345Pro) c.1019A>C (p.His340Pro) c.991A>C (p.Thr331Pro) n.1023A>C c.398A>C (p.His133Pro) c.887A>C (p.His296Pro) c.484A>C (p.Thr162Pro) c.233A>C (p.His78Pro) c.319+1992A>C c.1117A>C (p.Thr373Pro) | dbSNP |
11 | g.71435820T= | CA1981487043 | DHCR7 | c.983A= (p.His328=) c.809A= (p.His270=) c.1034A= (p.His345=) c.1019A= (p.His340=) c.991A= (p.Thr331=) n.1023A= c.398A= (p.His133=) c.887A= (p.His296=) c.484A= (p.Thr162=) c.233A= (p.His78=) c.319+1992A= c.1117A= (p.Thr373=) | |
11 | g.71435821G>A | CA381702541 | DHCR7 | c.982C>T (p.His328Tyr) c.808C>T (p.His270Tyr) c.1033C>T (p.His345Tyr) c.1018C>T (p.His340Tyr) c.990C>T (p.Thr330=) n.1022C>T c.397C>T (p.His133Tyr) c.886C>T (p.His296Tyr) c.483C>T (p.Thr161=) c.232C>T (p.His78Tyr) c.319+1991C>T c.1116C>T (p.Thr372=) | |
11 | g.71435821G>C | CA6162345 | DHCR7 | c.982C>G (p.His328Asp) c.808C>G (p.His270Asp) c.1033C>G (p.His345Asp) c.1018C>G (p.His340Asp) c.990C>G (p.Thr330=) n.1022C>G c.397C>G (p.His133Asp) c.886C>G (p.His296Asp) c.483C>G (p.Thr161=) c.232C>G (p.His78Asp) c.319+1991C>G c.1116C>G (p.Thr372=) | dbSNP ExAC gnomAD v2 |
11 | g.71435821G= | CA1981487044 | DHCR7 | c.982C= (p.His328=) c.808C= (p.His270=) c.1033C= (p.His345=) c.1018C= (p.His340=) c.990C= (p.Thr330=) n.1022C= c.397C= (p.His133=) c.886C= (p.His296=) c.483C= (p.Thr161=) c.232C= (p.His78=) c.319+1991C= c.1116C= (p.Thr372=) | |
11 | g.71435821G>T | CA381702542 | DHCR7 | c.982C>A (p.His328Asn) c.808C>A (p.His270Asn) c.1033C>A (p.His345Asn) c.1018C>A (p.His340Asn) c.990C>A (p.Thr330=) n.1022C>A c.397C>A (p.His133Asn) c.886C>A (p.His296Asn) c.483C>A (p.Thr161=) c.232C>A (p.His78Asn) c.319+1991C>A c.1116C>A (p.Thr372=) | gnomAD v4 |
11 | g.71435822G>A | CA381702543 | DHCR7 | c.981C>T (p.Tyr327=) c.807C>T (p.Tyr269=) c.1032C>T (p.Tyr344=) c.1017C>T (p.Tyr339=) c.989C>T (p.Thr330Ile) n.1021C>T c.396C>T (p.Tyr132=) c.885C>T (p.Tyr295=) c.482C>T (p.Thr161Ile) c.231C>T (p.Tyr77=) c.319+1990C>T c.1115C>T (p.Thr372Ile) | |
11 | g.71435822G>C | CA381702544 | DHCR7 | c.981C>G (p.Tyr327Ter) c.807C>G (p.Tyr269Ter) c.1032C>G (p.Tyr344Ter) c.1017C>G (p.Tyr339Ter) c.989C>G (p.Thr330Ser) n.1021C>G c.396C>G (p.Tyr132Ter) c.885C>G (p.Tyr295Ter) c.482C>G (p.Thr161Ser) c.231C>G (p.Tyr77Ter) c.319+1990C>G c.1115C>G (p.Thr372Ser) | |
11 | g.71435822G= | CA1981487045 | DHCR7 | c.981C= (p.Tyr327=) c.807C= (p.Tyr269=) c.1032C= (p.Tyr344=) c.1017C= (p.Tyr339=) c.989C= (p.Thr330=) n.1021C= c.396C= (p.Tyr132=) c.885C= (p.Tyr295=) c.482C= (p.Thr161=) c.231C= (p.Tyr77=) c.319+1990C= c.1115C= (p.Thr372=) | |
11 | g.71435822G>T | CA16041549 | DHCR7 | c.981C>A (p.Tyr327Ter) c.807C>A (p.Tyr269Ter) c.1032C>A (p.Tyr344Ter) c.1017C>A (p.Tyr339Ter) c.989C>A (p.Thr330Asn) n.1021C>A c.396C>A (p.Tyr132Ter) c.885C>A (p.Tyr295Ter) c.482C>A (p.Thr161Asn) c.231C>A (p.Tyr77Ter) c.319+1990C>A c.1115C>A (p.Thr372Asn) | ClinVar dbSNP |
11 | g.71435823T>A | CA381702545 | DHCR7 | c.980A>T (p.Tyr327Phe) c.806A>T (p.Tyr269Phe) c.1031A>T (p.Tyr344Phe) c.1016A>T (p.Tyr339Phe) c.988A>T (p.Thr330Ser) n.1020A>T c.395A>T (p.Tyr132Phe) c.884A>T (p.Tyr295Phe) c.481A>T (p.Thr161Ser) c.230A>T (p.Tyr77Phe) c.319+1989A>T c.1114A>T (p.Thr372Ser) | |
11 | g.71435823T>C | CA381702546 | DHCR7 | c.980A>G (p.Tyr327Cys) c.806A>G (p.Tyr269Cys) c.1031A>G (p.Tyr344Cys) c.1016A>G (p.Tyr339Cys) c.988A>G (p.Thr330Ala) n.1020A>G c.395A>G (p.Tyr132Cys) c.884A>G (p.Tyr295Cys) c.481A>G (p.Thr161Ala) c.230A>G (p.Tyr77Cys) c.319+1989A>G c.1114A>G (p.Thr372Ala) | |
11 | g.71435823T>G | CA381702547 | DHCR7 | c.980A>C (p.Tyr327Ser) c.806A>C (p.Tyr269Ser) c.1031A>C (p.Tyr344Ser) c.1016A>C (p.Tyr339Ser) c.988A>C (p.Thr330Pro) n.1020A>C c.395A>C (p.Tyr132Ser) c.884A>C (p.Tyr295Ser) c.481A>C (p.Thr161Pro) c.230A>C (p.Tyr77Ser) c.319+1989A>C c.1114A>C (p.Thr372Pro) | |
11 | g.71435824A>C | CA381702548 | DHCR7 | c.979T>G (p.Tyr327Asp) c.805T>G (p.Tyr269Asp) c.1030T>G (p.Tyr344Asp) c.1015T>G (p.Tyr339Asp) c.987T>G (p.Cys329Trp) n.1019T>G c.394T>G (p.Tyr132Asp) c.883T>G (p.Tyr295Asp) c.480T>G (p.Cys160Trp) c.229T>G (p.Tyr77Asp) c.319+1988T>G c.1113T>G (p.Cys371Trp) | |
11 | g.71435824A>G | CA381702549 | DHCR7 | c.979T>C (p.Tyr327His) c.805T>C (p.Tyr269His) c.1030T>C (p.Tyr344His) c.1015T>C (p.Tyr339His) c.987T>C (p.Cys329=) n.1019T>C c.394T>C (p.Tyr132His) c.883T>C (p.Tyr295His) c.480T>C (p.Cys160=) c.229T>C (p.Tyr77His) c.319+1988T>C c.1113T>C (p.Cys371=) | gnomAD v4 |
11 | g.71435824A>T | CA381702550 | DHCR7 | c.979T>A (p.Tyr327Asn) c.805T>A (p.Tyr269Asn) c.1030T>A (p.Tyr344Asn) c.1015T>A (p.Tyr339Asn) c.987T>A (p.Cys329Ter) n.1019T>A c.394T>A (p.Tyr132Asn) c.883T>A (p.Tyr295Asn) c.480T>A (p.Cys160Ter) c.229T>A (p.Tyr77Asn) c.319+1988T>A c.1113T>A (p.Cys371Ter) | |
11 | g.71435825C>A | CA381702551 | DHCR7 | c.978G>T (p.Val326=) c.804G>T (p.Val268=) c.1029G>T (p.Val343=) c.1014G>T (p.Val338=) c.986G>T (p.Cys329Phe) n.1018G>T c.393G>T (p.Val131=) c.882G>T (p.Val294=) c.479G>T (p.Cys160Phe) c.228G>T (p.Val76=) c.319+1987G>T c.1112G>T (p.Cys371Phe) | |
11 | g.71435825C>G | CA381702552 | DHCR7 | c.978G>C (p.Val326=) c.804G>C (p.Val268=) c.1029G>C (p.Val343=) c.1014G>C (p.Val338=) c.986G>C (p.Cys329Ser) n.1018G>C c.393G>C (p.Val131=) c.882G>C (p.Val294=) c.479G>C (p.Cys160Ser) c.228G>C (p.Val76=) c.319+1987G>C c.1112G>C (p.Cys371Ser) | |
11 | g.71435825C>T | CA381702553 | DHCR7 | c.978G>A (p.Val326=) c.804G>A (p.Val268=) c.1029G>A (p.Val343=) c.1014G>A (p.Val338=) c.986G>A (p.Cys329Tyr) n.1018G>A c.393G>A (p.Val131=) c.882G>A (p.Val294=) c.479G>A (p.Cys160Tyr) c.228G>A (p.Val76=) c.319+1987G>A c.1112G>A (p.Cys371Tyr) | ClinVar |
11 | g.71435826A= | CA1981487046 | DHCR7 | c.977T= (p.Val326=) c.803T= (p.Val268=) c.1028T= (p.Val343=) c.1013T= (p.Val338=) c.985T= (p.Cys329=) n.1017T= c.392T= (p.Val131=) c.881T= (p.Val294=) c.478T= (p.Cys160=) c.227T= (p.Val76=) c.319+1986T= c.1111T= (p.Cys371=) | |
11 | g.71435826A>C | CA381702554 | DHCR7 | c.977T>G (p.Val326Gly) c.803T>G (p.Val268Gly) c.1028T>G (p.Val343Gly) c.1013T>G (p.Val338Gly) c.985T>G (p.Cys329Gly) n.1017T>G c.392T>G (p.Val131Gly) c.881T>G (p.Val294Gly) c.478T>G (p.Cys160Gly) c.227T>G (p.Val76Gly) c.319+1986T>G c.1111T>G (p.Cys371Gly) | ClinVar dbSNP |
11 | g.71435826A>G | CA381702555 | DHCR7 | c.977T>C (p.Val326Ala) c.803T>C (p.Val268Ala) c.1028T>C (p.Val343Ala) c.1013T>C (p.Val338Ala) c.985T>C (p.Cys329Arg) n.1017T>C c.392T>C (p.Val131Ala) c.881T>C (p.Val294Ala) c.478T>C (p.Cys160Arg) c.227T>C (p.Val76Ala) c.319+1986T>C c.1111T>C (p.Cys371Arg) | dbSNP gnomAD v4 |
11 | g.71435826A>T | CA381702556 | DHCR7 | c.977T>A (p.Val326Glu) c.803T>A (p.Val268Glu) c.1028T>A (p.Val343Glu) c.1013T>A (p.Val338Glu) c.985T>A (p.Cys329Ser) n.1017T>A c.392T>A (p.Val131Glu) c.881T>A (p.Val294Glu) c.478T>A (p.Cys160Ser) c.227T>A (p.Val76Glu) c.319+1986T>A c.1111T>A (p.Cys371Ser) | |
11 | g.71435827C>A | CA340609 | DHCR7 | c.976G>T (p.Val326Leu) c.802G>T (p.Val268Leu) c.1027G>T (p.Val343Leu) c.1012G>T (p.Val338Leu) c.984G>T (p.Trp328Cys) n.1016G>T c.391G>T (p.Val131Leu) c.880G>T (p.Val294Leu) c.477G>T (p.Trp159Cys) c.226G>T (p.Val76Leu) c.319+1985G>T c.1110G>T (p.Trp370Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435827C= | CA1981487047 | DHCR7 | c.976G= (p.Val326=) c.802G= (p.Val268=) c.1027G= (p.Val343=) c.1012G= (p.Val338=) c.984G= (p.Trp328=) n.1016G= c.391G= (p.Val131=) c.880G= (p.Val294=) c.477G= (p.Trp159=) c.226G= (p.Val76=) c.319+1985G= c.1110G= (p.Trp370=) | |
11 | g.71435827C>G | CA381702557 | DHCR7 | c.976G>C (p.Val326Leu) c.802G>C (p.Val268Leu) c.1027G>C (p.Val343Leu) c.1012G>C (p.Val338Leu) c.984G>C (p.Trp328Cys) n.1016G>C c.391G>C (p.Val131Leu) c.880G>C (p.Val294Leu) c.477G>C (p.Trp159Cys) c.226G>C (p.Val76Leu) c.319+1985G>C c.1110G>C (p.Trp370Cys) | |
11 | g.71435827C>T | CA381702558 | DHCR7 | c.976G>A (p.Val326Met) c.802G>A (p.Val268Met) c.1027G>A (p.Val343Met) c.1012G>A (p.Val338Met) c.984G>A (p.Trp328Ter) n.1016G>A c.391G>A (p.Val131Met) c.880G>A (p.Val294Met) c.477G>A (p.Trp159Ter) c.226G>A (p.Val76Met) c.319+1985G>A c.1110G>A (p.Trp370Ter) | |
11 | g.71435828C>A | CA381702559 | DHCR7 | c.975G>T (p.Leu325Phe) c.801G>T (p.Leu267Phe) c.1026G>T (p.Leu342Phe) c.1011G>T (p.Leu337Phe) c.983G>T (p.Trp328Leu) n.1015G>T c.390G>T (p.Leu130Phe) c.879G>T (p.Leu293Phe) c.476G>T (p.Trp159Leu) c.225G>T (p.Leu75Phe) c.319+1984G>T c.1109G>T (p.Trp370Leu) | |
11 | g.71435828C>G | CA381702560 | DHCR7 | c.975G>C (p.Leu325Phe) c.801G>C (p.Leu267Phe) c.1026G>C (p.Leu342Phe) c.1011G>C (p.Leu337Phe) c.983G>C (p.Trp328Ser) n.1015G>C c.390G>C (p.Leu130Phe) c.879G>C (p.Leu293Phe) c.476G>C (p.Trp159Ser) c.225G>C (p.Leu75Phe) c.319+1984G>C c.1109G>C (p.Trp370Ser) | |
11 | g.71435828C>T | CA381702561 | DHCR7 | c.975G>A (p.Leu325=) c.801G>A (p.Leu267=) c.1026G>A (p.Leu342=) c.1011G>A (p.Leu337=) c.983G>A (p.Trp328Ter) n.1015G>A c.390G>A (p.Leu130=) c.879G>A (p.Leu293=) c.476G>A (p.Trp159Ter) c.225G>A (p.Leu75=) c.319+1984G>A c.1109G>A (p.Trp370Ter) | |
11 | g.71435829A>C | CA381702562 | DHCR7 | c.974T>G (p.Leu325Trp) c.800T>G (p.Leu267Trp) c.1025T>G (p.Leu342Trp) c.1010T>G (p.Leu337Trp) c.982T>G (p.Trp328Gly) n.1014T>G c.389T>G (p.Leu130Trp) c.878T>G (p.Leu293Trp) c.475T>G (p.Trp159Gly) c.224T>G (p.Leu75Trp) c.319+1983T>G c.1108T>G (p.Trp370Gly) | |
11 | g.71435829A>G | CA381702563 | DHCR7 | c.974T>C (p.Leu325Ser) c.800T>C (p.Leu267Ser) c.1025T>C (p.Leu342Ser) c.1010T>C (p.Leu337Ser) c.982T>C (p.Trp328Arg) n.1014T>C c.389T>C (p.Leu130Ser) c.878T>C (p.Leu293Ser) c.475T>C (p.Trp159Arg) c.224T>C (p.Leu75Ser) c.319+1983T>C c.1108T>C (p.Trp370Arg) | gnomAD v4 |
11 | g.71435829A>T | CA381702564 | DHCR7 | c.974T>A (p.Leu325Ter) c.800T>A (p.Leu267Ter) c.1025T>A (p.Leu342Ter) c.1010T>A (p.Leu337Ter) c.982T>A (p.Trp328Arg) n.1014T>A c.389T>A (p.Leu130Ter) c.878T>A (p.Leu293Ter) c.475T>A (p.Trp159Arg) c.224T>A (p.Leu75Ter) c.319+1983T>A c.1108T>A (p.Trp370Arg) | |
11 | g.71435830A>C | CA381702565 | DHCR7 | c.973T>G (p.Leu325Val) c.799T>G (p.Leu267Val) c.1024T>G (p.Leu342Val) c.1009T>G (p.Leu337Val) c.981T>G (p.Thr327=) n.1013T>G c.388T>G (p.Leu130Val) c.877T>G (p.Leu293Val) c.474T>G (p.Thr158=) c.223T>G (p.Leu75Val) c.319+1982T>G c.1107T>G (p.Thr369=) | |
11 | g.71435830A>G | CA475860863 | DHCR7 | c.973T>C (p.Leu325=) c.799T>C (p.Leu267=) c.1024T>C (p.Leu342=) c.1009T>C (p.Leu337=) c.981T>C (p.Thr327=) n.1013T>C c.388T>C (p.Leu130=) c.877T>C (p.Leu293=) c.474T>C (p.Thr158=) c.223T>C (p.Leu75=) c.319+1982T>C c.1107T>C (p.Thr369=) | |
11 | g.71435830A>T | CA381702566 | DHCR7 | c.973T>A (p.Leu325Met) c.799T>A (p.Leu267Met) c.1024T>A (p.Leu342Met) c.1009T>A (p.Leu337Met) c.981T>A (p.Thr327=) n.1013T>A c.388T>A (p.Leu130Met) c.877T>A (p.Leu293Met) c.474T>A (p.Thr158=) c.223T>A (p.Leu75Met) c.319+1982T>A c.1107T>A (p.Thr369=) | |
11 | g.71435831G>A | CA381702567 | DHCR7 | c.972C>T (p.Tyr324=) c.798C>T (p.Tyr266=) c.1023C>T (p.Tyr341=) c.1008C>T (p.Tyr336=) c.980C>T (p.Thr327Ile) n.1012C>T c.387C>T (p.Tyr129=) c.876C>T (p.Tyr292=) c.473C>T (p.Thr158Ile) c.222C>T (p.Tyr74=) c.319+1981C>T c.1106C>T (p.Thr369Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435831G>C | CA381702568 | DHCR7 | c.972C>G (p.Tyr324Ter) c.798C>G (p.Tyr266Ter) c.1023C>G (p.Tyr341Ter) c.1008C>G (p.Tyr336Ter) c.980C>G (p.Thr327Ser) n.1012C>G c.387C>G (p.Tyr129Ter) c.876C>G (p.Tyr292Ter) c.473C>G (p.Thr158Ser) c.222C>G (p.Tyr74Ter) c.319+1981C>G c.1106C>G (p.Thr369Ser) | |
11 | g.71435831G= | CA1981487048 | DHCR7 | c.972C= (p.Tyr324=) c.798C= (p.Tyr266=) c.1023C= (p.Tyr341=) c.1008C= (p.Tyr336=) c.980C= (p.Thr327=) n.1012C= c.387C= (p.Tyr129=) c.876C= (p.Tyr292=) c.473C= (p.Thr158=) c.222C= (p.Tyr74=) c.319+1981C= c.1106C= (p.Thr369=) | |
11 | g.71435831G>T | CA381702569 | DHCR7 | c.972C>A (p.Tyr324Ter) c.798C>A (p.Tyr266Ter) c.1023C>A (p.Tyr341Ter) c.1008C>A (p.Tyr336Ter) c.980C>A (p.Thr327Asn) n.1012C>A c.387C>A (p.Tyr129Ter) c.876C>A (p.Tyr292Ter) c.473C>A (p.Thr158Asn) c.222C>A (p.Tyr74Ter) c.319+1981C>A c.1106C>A (p.Thr369Asn) | gnomAD v4 |
11 | g.71435832T>A | CA381702572 | DHCR7 | c.971A>T (p.Tyr324Phe) c.797A>T (p.Tyr266Phe) c.1022A>T (p.Tyr341Phe) c.1007A>T (p.Tyr336Phe) c.979A>T (p.Thr327Ser) n.1011A>T c.386A>T (p.Tyr129Phe) c.875A>T (p.Tyr292Phe) c.472A>T (p.Thr158Ser) c.221A>T (p.Tyr74Phe) c.319+1980A>T c.1105A>T (p.Thr369Ser) | |
11 | g.71435832T>C | CA381702571 | DHCR7 | c.971A>G (p.Tyr324Cys) c.797A>G (p.Tyr266Cys) c.1022A>G (p.Tyr341Cys) c.1007A>G (p.Tyr336Cys) c.979A>G (p.Thr327Ala) n.1011A>G c.386A>G (p.Tyr129Cys) c.875A>G (p.Tyr292Cys) c.472A>G (p.Thr158Ala) c.221A>G (p.Tyr74Cys) c.319+1980A>G c.1105A>G (p.Thr369Ala) | dbSNP |
11 | g.71435832T>G | CA381702570 | DHCR7 | c.971A>C (p.Tyr324Ser) c.797A>C (p.Tyr266Ser) c.1022A>C (p.Tyr341Ser) c.1007A>C (p.Tyr336Ser) c.979A>C (p.Thr327Pro) n.1011A>C c.386A>C (p.Tyr129Ser) c.875A>C (p.Tyr292Ser) c.472A>C (p.Thr158Pro) c.221A>C (p.Tyr74Ser) c.319+1980A>C c.1105A>C (p.Thr369Pro) | |
11 | g.71435832T= | CA1981487049 | DHCR7 | c.971A= (p.Tyr324=) c.797A= (p.Tyr266=) c.1022A= (p.Tyr341=) c.1007A= (p.Tyr336=) c.979A= (p.Thr327=) n.1011A= c.386A= (p.Tyr129=) c.875A= (p.Tyr292=) c.472A= (p.Thr158=) c.221A= (p.Tyr74=) c.319+1980A= c.1105A= (p.Thr369=) | |
11 | g.71435833A= | CA1981487050 | DHCR7 | c.970T= (p.Tyr324=) c.796T= (p.Tyr266=) c.1021T= (p.Tyr341=) c.1006T= (p.Tyr336=) c.978T= (p.Cys326=) n.1010T= c.385T= (p.Tyr129=) c.874T= (p.Tyr292=) c.471T= (p.Cys157=) c.220T= (p.Tyr74=) c.319+1979T= c.1104T= (p.Cys368=) | |
11 | g.71435833A>C | CA381702575 | DHCR7 | c.970T>G (p.Tyr324Asp) c.796T>G (p.Tyr266Asp) c.1021T>G (p.Tyr341Asp) c.1006T>G (p.Tyr336Asp) c.978T>G (p.Cys326Trp) n.1010T>G c.385T>G (p.Tyr129Asp) c.874T>G (p.Tyr292Asp) c.471T>G (p.Cys157Trp) c.220T>G (p.Tyr74Asp) c.319+1979T>G c.1104T>G (p.Cys368Trp) | |
11 | g.71435833A>G | CA381702573 | DHCR7 | c.970T>C (p.Tyr324His) c.796T>C (p.Tyr266His) c.1021T>C (p.Tyr341His) c.1006T>C (p.Tyr336His) c.978T>C (p.Cys326=) n.1010T>C c.385T>C (p.Tyr129His) c.874T>C (p.Tyr292His) c.471T>C (p.Cys157=) c.220T>C (p.Tyr74His) c.319+1979T>C c.1104T>C (p.Cys368=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435833A>T | CA381702574 | DHCR7 | c.970T>A (p.Tyr324Asn) c.796T>A (p.Tyr266Asn) c.1021T>A (p.Tyr341Asn) c.1006T>A (p.Tyr336Asn) c.978T>A (p.Cys326Ter) n.1010T>A c.385T>A (p.Tyr129Asn) c.874T>A (p.Tyr292Asn) c.471T>A (p.Cys157Ter) c.220T>A (p.Tyr74Asn) c.319+1979T>A c.1104T>A (p.Cys368Ter) | |
11 | g.71435834_71435835del | CA2573147613 | DHCR7 | c.969_970del (p.Tyr324LeufsTer?) c.795_796del (p.Tyr266LeufsTer?) c.1020_1021del (p.Tyr341LeufsTer?) c.1005_1006del (p.Tyr336LeufsTer?) c.977_978del (p.Cys326TyrfsTer?) n.1009_1010del c.384_385del (p.Tyr129LeufsTer?) c.873_874del (p.Tyr292LeufsTer?) c.470_471del (p.Cys157TyrfsTer?) c.219_220del (p.Tyr74LeufsTer?) c.319+1978_319+1979del c.1103_1104del (p.Cys368TyrfsTer?) | ClinVar dbSNP |
11 | g.71435834C>A | CA381702576 | DHCR7 | c.969G>T (p.Leu323=) c.795G>T (p.Leu265=) c.1020G>T (p.Leu340=) c.1005G>T (p.Leu335=) c.977G>T (p.Cys326Phe) n.1009G>T c.384G>T (p.Leu128=) c.873G>T (p.Leu291=) c.470G>T (p.Cys157Phe) c.219G>T (p.Leu73=) c.319+1978G>T c.1103G>T (p.Cys368Phe) | |
11 | g.71435834C>G | CA381702577 | DHCR7 | c.969G>C (p.Leu323=) c.795G>C (p.Leu265=) c.1020G>C (p.Leu340=) c.1005G>C (p.Leu335=) c.977G>C (p.Cys326Ser) n.1009G>C c.384G>C (p.Leu128=) c.873G>C (p.Leu291=) c.470G>C (p.Cys157Ser) c.219G>C (p.Leu73=) c.319+1978G>C c.1103G>C (p.Cys368Ser) | |
11 | g.71435834C>T | CA381702578 | DHCR7 | c.969G>A (p.Leu323=) c.795G>A (p.Leu265=) c.1020G>A (p.Leu340=) c.1005G>A (p.Leu335=) c.977G>A (p.Cys326Tyr) n.1009G>A c.384G>A (p.Leu128=) c.873G>A (p.Leu291=) c.470G>A (p.Cys157Tyr) c.219G>A (p.Leu73=) c.319+1978G>A c.1103G>A (p.Cys368Tyr) | gnomAD v4 |
11 | g.71435835A>C | CA381702579 | DHCR7 | c.968T>G (p.Leu323Arg) c.794T>G (p.Leu265Arg) c.1019T>G (p.Leu340Arg) c.1004T>G (p.Leu335Arg) c.976T>G (p.Cys326Gly) n.1008T>G c.383T>G (p.Leu128Arg) c.872T>G (p.Leu291Arg) c.469T>G (p.Cys157Gly) c.218T>G (p.Leu73Arg) c.319+1977T>G c.1102T>G (p.Cys368Gly) | |
11 | g.71435835A>G | CA381702580 | DHCR7 | c.968T>C (p.Leu323Pro) c.794T>C (p.Leu265Pro) c.1019T>C (p.Leu340Pro) c.1004T>C (p.Leu335Pro) c.976T>C (p.Cys326Arg) n.1008T>C c.383T>C (p.Leu128Pro) c.872T>C (p.Leu291Pro) c.469T>C (p.Cys157Arg) c.218T>C (p.Leu73Pro) c.319+1977T>C c.1102T>C (p.Cys368Arg) | |
11 | g.71435835A>T | CA381702581 | DHCR7 | c.968T>A (p.Leu323Gln) c.794T>A (p.Leu265Gln) c.1019T>A (p.Leu340Gln) c.1004T>A (p.Leu335Gln) c.976T>A (p.Cys326Ser) n.1008T>A c.383T>A (p.Leu128Gln) c.872T>A (p.Leu291Gln) c.469T>A (p.Cys157Ser) c.218T>A (p.Leu73Gln) c.319+1977T>A c.1102T>A (p.Cys368Ser) | |
11 | g.71435836G>A | CA475860867 | DHCR7 | c.967C>T (p.Leu323=) c.793C>T (p.Leu265=) c.1018C>T (p.Leu340=) c.1003C>T (p.Leu335=) c.975C>T (p.Val325=) n.1007C>T c.382C>T (p.Leu128=) c.871C>T (p.Leu291=) c.468C>T (p.Val156=) c.217C>T (p.Leu73=) c.319+1976C>T c.1101C>T (p.Val367=) | |
11 | g.71435836G>C | CA381702582 | DHCR7 | c.967C>G (p.Leu323Val) c.793C>G (p.Leu265Val) c.1018C>G (p.Leu340Val) c.1003C>G (p.Leu335Val) c.975C>G (p.Val325=) n.1007C>G c.382C>G (p.Leu128Val) c.871C>G (p.Leu291Val) c.468C>G (p.Val156=) c.217C>G (p.Leu73Val) c.319+1976C>G c.1101C>G (p.Val367=) | |
11 | g.71435836G>T | CA381702583 | DHCR7 | c.967C>A (p.Leu323Met) c.793C>A (p.Leu265Met) c.1018C>A (p.Leu340Met) c.1003C>A (p.Leu335Met) c.975C>A (p.Val325=) n.1007C>A c.382C>A (p.Leu128Met) c.871C>A (p.Leu291Met) c.468C>A (p.Val156=) c.217C>A (p.Leu73Met) c.319+1976C>A c.1101C>A (p.Val367=) | |
11 | g.71435837A>C | CA381702584 | DHCR7 | c.966T>G (p.Gly322=) c.792T>G (p.Gly264=) c.1017T>G (p.Gly339=) c.1002T>G (p.Gly334=) c.974T>G (p.Val325Gly) n.1006T>G c.381T>G (p.Gly127=) c.870T>G (p.Gly290=) c.467T>G (p.Val156Gly) c.216T>G (p.Gly72=) c.319+1975T>G c.1100T>G (p.Val367Gly) | |
11 | g.71435837A>G | CA381702585 | DHCR7 | c.966T>C (p.Gly322=) c.792T>C (p.Gly264=) c.1017T>C (p.Gly339=) c.1002T>C (p.Gly334=) c.974T>C (p.Val325Ala) n.1006T>C c.381T>C (p.Gly127=) c.870T>C (p.Gly290=) c.467T>C (p.Val156Ala) c.216T>C (p.Gly72=) c.319+1975T>C c.1100T>C (p.Val367Ala) | |
11 | g.71435837A>T | CA381702586 | DHCR7 | c.966T>A (p.Gly322=) c.792T>A (p.Gly264=) c.1017T>A (p.Gly339=) c.1002T>A (p.Gly334=) c.974T>A (p.Val325Asp) n.1006T>A c.381T>A (p.Gly127=) c.870T>A (p.Gly290=) c.467T>A (p.Val156Asp) c.216T>A (p.Gly72=) c.319+1975T>A c.1100T>A (p.Val367Asp) | |
11 | g.71435838C>A | CA381702589 | DHCR7 | c.965G>T (p.Gly322Val) c.791G>T (p.Gly264Val) c.1016G>T (p.Gly339Val) c.1001G>T (p.Gly334Val) c.973G>T (p.Val325Phe) n.1005G>T c.380G>T (p.Gly127Val) c.869G>T (p.Gly290Val) c.466G>T (p.Val156Phe) c.215G>T (p.Gly72Val) c.319+1974G>T c.1099G>T (p.Val367Phe) | gnomAD v4 |
11 | g.71435838C>G | CA381702587 | DHCR7 | c.965G>C (p.Gly322Ala) c.791G>C (p.Gly264Ala) c.1016G>C (p.Gly339Ala) c.1001G>C (p.Gly334Ala) c.973G>C (p.Val325Leu) n.1005G>C c.380G>C (p.Gly127Ala) c.869G>C (p.Gly290Ala) c.466G>C (p.Val156Leu) c.215G>C (p.Gly72Ala) c.319+1974G>C c.1099G>C (p.Val367Leu) | |
11 | g.71435838C>T | CA381702588 | DHCR7 | c.965G>A (p.Gly322Asp) c.791G>A (p.Gly264Asp) c.1016G>A (p.Gly339Asp) c.1001G>A (p.Gly334Asp) c.973G>A (p.Val325Ile) n.1005G>A c.380G>A (p.Gly127Asp) c.869G>A (p.Gly290Asp) c.466G>A (p.Val156Ile) c.215G>A (p.Gly72Asp) c.319+1974G>A c.1099G>A (p.Val367Ile) | |
11 | g.71435839C>A | CA381702590 | DHCR7 | c.964G>T (p.Gly322Cys) c.790G>T (p.Gly264Cys) c.1015G>T (p.Gly339Cys) c.1000G>T (p.Gly334Cys) c.972G>T (p.Arg324Ser) n.1004G>T c.379G>T (p.Gly127Cys) c.868G>T (p.Gly290Cys) c.465G>T (p.Arg155Ser) c.214G>T (p.Gly72Cys) c.319+1973G>T c.1098G>T (p.Arg366Ser) | gnomAD v4 |
11 | g.71435839C>G | CA381702591 | DHCR7 | c.964G>C (p.Gly322Arg) c.790G>C (p.Gly264Arg) c.1015G>C (p.Gly339Arg) c.1000G>C (p.Gly334Arg) c.972G>C (p.Arg324Ser) n.1004G>C c.379G>C (p.Gly127Arg) c.868G>C (p.Gly290Arg) c.465G>C (p.Arg155Ser) c.214G>C (p.Gly72Arg) c.319+1973G>C c.1098G>C (p.Arg366Ser) | |
11 | g.71435839C>T | CA381702592 | DHCR7 | c.964G>A (p.Gly322Ser) c.790G>A (p.Gly264Ser) c.1015G>A (p.Gly339Ser) c.1000G>A (p.Gly334Ser) c.972G>A (p.Arg324=) n.1004G>A c.379G>A (p.Gly127Ser) c.868G>A (p.Gly290Ser) c.465G>A (p.Arg155=) c.214G>A (p.Gly72Ser) c.319+1973G>A c.1098G>A (p.Arg366=) | |
11 | g.71435840C>A | CA6162346 | DHCR7 | c.964-1G>T (n.964-1G>T) c.790-1G>T (n.790-1G>T) c.1015-1G>T (n.1015-1G>T) c.1000-1G>T (n.1000-1G>T) c.972-1G>T (n.972-1G>T) n.1004-1G>T c.379-1G>T (n.379-1G>T) c.868-1G>T (n.868-1G>T) c.464G>T (p.Arg155Met) c.214-1G>T (n.214-1G>T) c.319+1972G>T c.1097G>T (p.Arg366Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435840C= | CA1981487051 | DHCR7 | c.964-1G= (n.964-1G=) c.790-1G= (n.790-1G=) c.1015-1G= (n.1015-1G=) c.1000-1G= (n.1000-1G=) c.972-1G= (n.972-1G=) n.1004-1G= c.379-1G= (n.379-1G=) c.868-1G= (n.868-1G=) c.464G= (p.Arg155=) c.214-1G= (n.214-1G=) c.319+1972G= c.1097G= (p.Arg366=) | |
11 | g.71435840C>G | CA090917 | DHCR7 | c.964-1G>C (n.964-1G>C) c.790-1G>C (n.790-1G>C) c.1015-1G>C (n.1015-1G>C) c.1000-1G>C (n.1000-1G>C) c.972-1G>C (n.972-1G>C) n.1004-1G>C c.379-1G>C (n.379-1G>C) c.868-1G>C (n.868-1G>C) c.464G>C (p.Arg155Thr) c.214-1G>C (n.214-1G>C) c.319+1972G>C c.1097G>C (p.Arg366Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435840C>T | CA381702593 | DHCR7 | c.964-1G>A (n.964-1G>A) c.790-1G>A (n.790-1G>A) c.1015-1G>A (n.1015-1G>A) c.1000-1G>A (n.1000-1G>A) c.972-1G>A (n.972-1G>A) n.1004-1G>A c.379-1G>A (n.379-1G>A) c.868-1G>A (n.868-1G>A) c.464G>A (p.Arg155Lys) c.214-1G>A (n.214-1G>A) c.319+1972G>A c.1097G>A (p.Arg366Lys) |