Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71435700C>A | CA381702028 | DHCR7 | c.1103G>T (p.Cys368Phe) c.929G>T (p.Cys310Phe) c.1154G>T (p.Cys385Phe) c.1139G>T (p.Cys380Phe) c.1111G>T (p.Ala371Ser) n.1143G>T c.518G>T (p.Cys173Phe) c.1007G>T (p.Cys336Phe) c.604G>T (p.Ala202Ser) c.353G>T (p.Cys118Phe) c.319+2112G>T c.1237G>T (p.Ala413Ser) | |
11 | g.71435700C>G | CA381702029 | DHCR7 | c.1103G>C (p.Cys368Ser) c.929G>C (p.Cys310Ser) c.1154G>C (p.Cys385Ser) c.1139G>C (p.Cys380Ser) c.1111G>C (p.Ala371Pro) n.1143G>C c.518G>C (p.Cys173Ser) c.1007G>C (p.Cys336Ser) c.604G>C (p.Ala202Pro) c.353G>C (p.Cys118Ser) c.319+2112G>C c.1237G>C (p.Ala413Pro) | |
11 | g.71435700C>T | CA381702030 | DHCR7 | c.1103G>A (p.Cys368Tyr) c.929G>A (p.Cys310Tyr) c.1154G>A (p.Cys385Tyr) c.1139G>A (p.Cys380Tyr) c.1111G>A (p.Ala371Thr) n.1143G>A c.518G>A (p.Cys173Tyr) c.1007G>A (p.Cys336Tyr) c.604G>A (p.Ala202Thr) c.353G>A (p.Cys118Tyr) c.319+2112G>A c.1237G>A (p.Ala413Thr) | |
11 | g.71435701A= | CA1981486965 | DHCR7 | c.1102T= (p.Cys368=) c.928T= (p.Cys310=) c.1153T= (p.Cys385=) c.1138T= (p.Cys380=) c.1110T= (p.Ala370=) n.1142T= c.517T= (p.Cys173=) c.1006T= (p.Cys336=) c.603T= (p.Ala201=) c.352T= (p.Cys118=) c.319+2111T= c.1236T= (p.Ala412=) | |
11 | g.71435701A>C | CA381702031 | DHCR7 | c.1102T>G (p.Cys368Gly) c.928T>G (p.Cys310Gly) c.1153T>G (p.Cys385Gly) c.1138T>G (p.Cys380Gly) c.1110T>G (p.Ala370=) n.1142T>G c.517T>G (p.Cys173Gly) c.1006T>G (p.Cys336Gly) c.603T>G (p.Ala201=) c.352T>G (p.Cys118Gly) c.319+2111T>G c.1236T>G (p.Ala412=) | |
11 | g.71435701A>G | CA381702032 | DHCR7 | c.1102T>C (p.Cys368Arg) c.928T>C (p.Cys310Arg) c.1153T>C (p.Cys385Arg) c.1138T>C (p.Cys380Arg) c.1110T>C (p.Ala370=) n.1142T>C c.517T>C (p.Cys173Arg) c.1006T>C (p.Cys336Arg) c.603T>C (p.Ala201=) c.352T>C (p.Cys118Arg) c.319+2111T>C c.1236T>C (p.Ala412=) | dbSNP |
11 | g.71435701A>T | CA381702033 | DHCR7 | c.1102T>A (p.Cys368Ser) c.928T>A (p.Cys310Ser) c.1153T>A (p.Cys385Ser) c.1138T>A (p.Cys380Ser) c.1110T>A (p.Ala370=) n.1142T>A c.517T>A (p.Cys173Ser) c.1006T>A (p.Cys336Ser) c.603T>A (p.Ala201=) c.352T>A (p.Cys118Ser) c.319+2111T>A c.1236T>A (p.Ala412=) | |
11 | g.71435702G>A | CA381702034 | DHCR7 | c.1101C>T (p.Arg367=) c.927C>T (p.Arg309=) c.1152C>T (p.Arg384=) c.1137C>T (p.Arg379=) c.1109C>T (p.Ala370Val) n.1141C>T c.516C>T (p.Arg172=) c.1005C>T (p.Arg335=) c.602C>T (p.Ala201Val) c.351C>T (p.Arg117=) c.319+2110C>T c.1235C>T (p.Ala412Val) | dbSNP |
11 | g.71435702G>C | CA381702035 | DHCR7 | c.1101C>G (p.Arg367=) c.927C>G (p.Arg309=) c.1152C>G (p.Arg384=) c.1137C>G (p.Arg379=) c.1109C>G (p.Ala370Gly) n.1141C>G c.516C>G (p.Arg172=) c.1005C>G (p.Arg335=) c.602C>G (p.Ala201Gly) c.351C>G (p.Arg117=) c.319+2110C>G c.1235C>G (p.Ala412Gly) | |
11 | g.71435702G= | CA1981486966 | DHCR7 | c.1101C= (p.Arg367=) c.927C= (p.Arg309=) c.1152C= (p.Arg384=) c.1137C= (p.Arg379=) c.1109C= (p.Ala370=) n.1141C= c.516C= (p.Arg172=) c.1005C= (p.Arg335=) c.602C= (p.Ala201=) c.351C= (p.Arg117=) c.319+2110C= c.1235C= (p.Ala412=) | |
11 | g.71435702G>T | CA381702036 | DHCR7 | c.1101C>A (p.Arg367=) c.927C>A (p.Arg309=) c.1152C>A (p.Arg384=) c.1137C>A (p.Arg379=) c.1109C>A (p.Ala370Asp) n.1141C>A c.516C>A (p.Arg172=) c.1005C>A (p.Arg335=) c.602C>A (p.Ala201Asp) c.351C>A (p.Arg117=) c.319+2110C>A c.1235C>A (p.Ala412Asp) | |
11 | g.71435703C>A | CA381702038 | DHCR7 | c.1100G>T (p.Arg367Leu) c.926G>T (p.Arg309Leu) c.1151G>T (p.Arg384Leu) c.1136G>T (p.Arg379Leu) c.1108G>T (p.Ala370Ser) n.1140G>T c.515G>T (p.Arg172Leu) c.1004G>T (p.Arg335Leu) c.601G>T (p.Ala201Ser) c.350G>T (p.Arg117Leu) c.319+2109G>T c.1234G>T (p.Ala412Ser) | |
11 | g.71435703C= | CA1981486967 | DHCR7 | c.1100G= (p.Arg367=) c.926G= (p.Arg309=) c.1151G= (p.Arg384=) c.1136G= (p.Arg379=) c.1108G= (p.Ala370=) n.1140G= c.515G= (p.Arg172=) c.1004G= (p.Arg335=) c.601G= (p.Ala201=) c.350G= (p.Arg117=) c.319+2109G= c.1234G= (p.Ala412=) | |
11 | g.71435703C>G | CA381702037 | DHCR7 | c.1100G>C (p.Arg367Pro) c.926G>C (p.Arg309Pro) c.1151G>C (p.Arg384Pro) c.1136G>C (p.Arg379Pro) c.1108G>C (p.Ala370Pro) n.1140G>C c.515G>C (p.Arg172Pro) c.1004G>C (p.Arg335Pro) c.601G>C (p.Ala201Pro) c.350G>C (p.Arg117Pro) c.319+2109G>C c.1234G>C (p.Ala412Pro) | |
11 | g.71435703C>T | CA6162312 | DHCR7 | c.1100G>A (p.Arg367His) c.926G>A (p.Arg309His) c.1151G>A (p.Arg384His) c.1136G>A (p.Arg379His) c.1108G>A (p.Ala370Thr) n.1140G>A c.515G>A (p.Arg172His) c.1004G>A (p.Arg335His) c.601G>A (p.Ala201Thr) c.350G>A (p.Arg117His) c.319+2109G>A c.1234G>A (p.Ala412Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435704G>A | CA6162313 | DHCR7 | c.1099C>T (p.Arg367Cys) c.925C>T (p.Arg309Cys) c.1150C>T (p.Arg384Cys) c.1135C>T (p.Arg379Cys) c.1107C>T (p.Gly369=) n.1139C>T c.514C>T (p.Arg172Cys) c.1003C>T (p.Arg335Cys) c.600C>T (p.Gly200=) c.349C>T (p.Arg117Cys) c.319+2108C>T c.1233C>T (p.Gly411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435704G>C | CA381702039 | DHCR7 | c.1099C>G (p.Arg367Gly) c.925C>G (p.Arg309Gly) c.1150C>G (p.Arg384Gly) c.1135C>G (p.Arg379Gly) c.1107C>G (p.Gly369=) n.1139C>G c.514C>G (p.Arg172Gly) c.1003C>G (p.Arg335Gly) c.600C>G (p.Gly200=) c.349C>G (p.Arg117Gly) c.319+2108C>G c.1233C>G (p.Gly411=) | |
11 | g.71435704G= | CA1981486968 | DHCR7 | c.1099C= (p.Arg367=) c.925C= (p.Arg309=) c.1150C= (p.Arg384=) c.1135C= (p.Arg379=) c.1107C= (p.Gly369=) n.1139C= c.514C= (p.Arg172=) c.1003C= (p.Arg335=) c.600C= (p.Gly200=) c.349C= (p.Arg117=) c.319+2108C= c.1233C= (p.Gly411=) | |
11 | g.71435704G>T | CA381702040 | DHCR7 | c.1099C>A (p.Arg367Ser) c.925C>A (p.Arg309Ser) c.1150C>A (p.Arg384Ser) c.1135C>A (p.Arg379Ser) c.1107C>A (p.Gly369=) n.1139C>A c.514C>A (p.Arg172Ser) c.1003C>A (p.Arg335Ser) c.600C>A (p.Gly200=) c.349C>A (p.Arg117Ser) c.319+2108C>A c.1233C>A (p.Gly411=) | |
11 | g.71435705C>A | CA381702041 | DHCR7 | c.1098G>T (p.Gly366=) c.924G>T (p.Gly308=) c.1149G>T (p.Gly383=) c.1134G>T (p.Gly378=) c.1106G>T (p.Gly369Val) n.1138G>T c.513G>T (p.Gly171=) c.1002G>T (p.Gly334=) c.599G>T (p.Gly200Val) c.348G>T (p.Gly116=) c.319+2107G>T c.1232G>T (p.Gly411Val) | |
11 | g.71435705C>G | CA381702042 | DHCR7 | c.1098G>C (p.Gly366=) c.924G>C (p.Gly308=) c.1149G>C (p.Gly383=) c.1134G>C (p.Gly378=) c.1106G>C (p.Gly369Ala) n.1138G>C c.513G>C (p.Gly171=) c.1002G>C (p.Gly334=) c.599G>C (p.Gly200Ala) c.348G>C (p.Gly116=) c.319+2107G>C c.1232G>C (p.Gly411Ala) | |
11 | g.71435705C>T | CA381702043 | DHCR7 | c.1098G>A (p.Gly366=) c.924G>A (p.Gly308=) c.1149G>A (p.Gly383=) c.1134G>A (p.Gly378=) c.1106G>A (p.Gly369Asp) n.1138G>A c.513G>A (p.Gly171=) c.1002G>A (p.Gly334=) c.599G>A (p.Gly200Asp) c.348G>A (p.Gly116=) c.319+2107G>A c.1232G>A (p.Gly411Asp) | ClinVar dbSNP |
11 | g.71435706C>A | CA381702049 | DHCR7 | c.1097G>T (p.Gly366Val) c.923G>T (p.Gly308Val) c.1148G>T (p.Gly383Val) c.1133G>T (p.Gly378Val) c.1105G>T (p.Gly369Cys) n.1137G>T c.512G>T (p.Gly171Val) c.1001G>T (p.Gly334Val) c.598G>T (p.Gly200Cys) c.347G>T (p.Gly116Val) c.319+2106G>T c.1231G>T (p.Gly411Cys) | ClinVar dbSNP |
11 | g.71435706C= | CA1981486969 | DHCR7 | c.1097G= (p.Gly366=) c.923G= (p.Gly308=) c.1148G= (p.Gly383=) c.1133G= (p.Gly378=) c.1105G= (p.Gly369=) n.1137G= c.512G= (p.Gly171=) c.1001G= (p.Gly334=) c.598G= (p.Gly200=) c.347G= (p.Gly116=) c.319+2106G= c.1231G= (p.Gly411=) | |
11 | g.71435706C>G | CA381702047 | DHCR7 | c.1097G>C (p.Gly366Ala) c.923G>C (p.Gly308Ala) c.1148G>C (p.Gly383Ala) c.1133G>C (p.Gly378Ala) c.1105G>C (p.Gly369Arg) n.1137G>C c.512G>C (p.Gly171Ala) c.1001G>C (p.Gly334Ala) c.598G>C (p.Gly200Arg) c.347G>C (p.Gly116Ala) c.319+2106G>C c.1231G>C (p.Gly411Arg) | |
11 | g.71435706C>T | CA381702045 | DHCR7 | c.1097G>A (p.Gly366Glu) c.923G>A (p.Gly308Glu) c.1148G>A (p.Gly383Glu) c.1133G>A (p.Gly378Glu) c.1105G>A (p.Gly369Ser) n.1137G>A c.512G>A (p.Gly171Glu) c.1001G>A (p.Gly334Glu) c.598G>A (p.Gly200Ser) c.347G>A (p.Gly116Glu) c.319+2106G>A c.1231G>A (p.Gly411Ser) | |
11 | g.71435707C>A | CA381702050 | DHCR7 | c.1096G>T (p.Gly366Trp) c.922G>T (p.Gly308Trp) c.1147G>T (p.Gly383Trp) c.1132G>T (p.Gly378Trp) c.1104G>T (p.Met368Ile) n.1136G>T c.511G>T (p.Gly171Trp) c.1000G>T (p.Gly334Trp) c.597G>T (p.Met199Ile) c.346G>T (p.Gly116Trp) c.319+2105G>T c.1230G>T (p.Met410Ile) | |
11 | g.71435707C= | CA1981486970 | DHCR7 | c.1096G= (p.Gly366=) c.922G= (p.Gly308=) c.1147G= (p.Gly383=) c.1132G= (p.Gly378=) c.1104G= (p.Met368=) n.1136G= c.511G= (p.Gly171=) c.1000G= (p.Gly334=) c.597G= (p.Met199=) c.346G= (p.Gly116=) c.319+2105G= c.1230G= (p.Met410=) | |
11 | g.71435707C>G | CA381702051 | DHCR7 | c.1096G>C (p.Gly366Arg) c.922G>C (p.Gly308Arg) c.1147G>C (p.Gly383Arg) c.1132G>C (p.Gly378Arg) c.1104G>C (p.Met368Ile) n.1136G>C c.511G>C (p.Gly171Arg) c.1000G>C (p.Gly334Arg) c.597G>C (p.Met199Ile) c.346G>C (p.Gly116Arg) c.319+2105G>C c.1230G>C (p.Met410Ile) | gnomAD v4 |
11 | g.71435707C>T | CA224324413 | DHCR7 | c.1096G>A (p.Gly366Arg) c.922G>A (p.Gly308Arg) c.1147G>A (p.Gly383Arg) c.1132G>A (p.Gly378Arg) c.1104G>A (p.Met368Ile) n.1136G>A c.511G>A (p.Gly171Arg) c.1000G>A (p.Gly334Arg) c.597G>A (p.Met199Ile) c.346G>A (p.Gly116Arg) c.319+2105G>A c.1230G>A (p.Met410Ile) | dbSNP |
11 | g.71435708A>C | CA381702053 | DHCR7 | c.1095T>G (p.Asp365Glu) c.921T>G (p.Asp307Glu) c.1146T>G (p.Asp382Glu) c.1131T>G (p.Asp377Glu) c.1103T>G (p.Met368Arg) n.1135T>G c.510T>G (p.Asp170Glu) c.999T>G (p.Asp333Glu) c.596T>G (p.Met199Arg) c.345T>G (p.Asp115Glu) c.319+2104T>G c.1229T>G (p.Met410Arg) | |
11 | g.71435708A>G | CA381702054 | DHCR7 | c.1095T>C (p.Asp365=) c.921T>C (p.Asp307=) c.1146T>C (p.Asp382=) c.1131T>C (p.Asp377=) c.1103T>C (p.Met368Thr) n.1135T>C c.510T>C (p.Asp170=) c.999T>C (p.Asp333=) c.596T>C (p.Met199Thr) c.345T>C (p.Asp115=) c.319+2104T>C c.1229T>C (p.Met410Thr) | |
11 | g.71435708A>T | CA381702055 | DHCR7 | c.1095T>A (p.Asp365Glu) c.921T>A (p.Asp307Glu) c.1146T>A (p.Asp382Glu) c.1131T>A (p.Asp377Glu) c.1103T>A (p.Met368Lys) n.1135T>A c.510T>A (p.Asp170Glu) c.999T>A (p.Asp333Glu) c.596T>A (p.Met199Lys) c.345T>A (p.Asp115Glu) c.319+2104T>A c.1229T>A (p.Met410Lys) | |
11 | g.71435709T>A | CA381702057 | DHCR7 | c.1094A>T (p.Asp365Val) c.920A>T (p.Asp307Val) c.1145A>T (p.Asp382Val) c.1130A>T (p.Asp377Val) c.1102A>T (p.Met368Leu) n.1134A>T c.509A>T (p.Asp170Val) c.998A>T (p.Asp333Val) c.595A>T (p.Met199Leu) c.344A>T (p.Asp115Val) c.319+2103A>T c.1228A>T (p.Met410Leu) | |
11 | g.71435709T>C | CA224324426 | DHCR7 | c.1094A>G (p.Asp365Gly) c.920A>G (p.Asp307Gly) c.1145A>G (p.Asp382Gly) c.1130A>G (p.Asp377Gly) c.1102A>G (p.Met368Val) n.1134A>G c.509A>G (p.Asp170Gly) c.998A>G (p.Asp333Gly) c.595A>G (p.Met199Val) c.344A>G (p.Asp115Gly) c.319+2103A>G c.1228A>G (p.Met410Val) | dbSNP gnomAD v4 |
11 | g.71435709T>G | CA381702058 | DHCR7 | c.1094A>C (p.Asp365Ala) c.920A>C (p.Asp307Ala) c.1145A>C (p.Asp382Ala) c.1130A>C (p.Asp377Ala) c.1102A>C (p.Met368Leu) n.1134A>C c.509A>C (p.Asp170Ala) c.998A>C (p.Asp333Ala) c.595A>C (p.Met199Leu) c.344A>C (p.Asp115Ala) c.319+2103A>C c.1228A>C (p.Met410Leu) | |
11 | g.71435709T= | CA1981486971 | DHCR7 | c.1094A= (p.Asp365=) c.920A= (p.Asp307=) c.1145A= (p.Asp382=) c.1130A= (p.Asp377=) c.1102A= (p.Met368=) n.1134A= c.509A= (p.Asp170=) c.998A= (p.Asp333=) c.595A= (p.Met199=) c.344A= (p.Asp115=) c.319+2103A= c.1228A= (p.Met410=) | |
11 | g.71435710C>A | CA381702061 | DHCR7 | c.1093G>T (p.Asp365Tyr) c.919G>T (p.Asp307Tyr) c.1144G>T (p.Asp382Tyr) c.1129G>T (p.Asp377Tyr) c.1101G>T (p.Arg367=) n.1133G>T c.508G>T (p.Asp170Tyr) c.997G>T (p.Asp333Tyr) c.594G>T (p.Arg198=) c.343G>T (p.Asp115Tyr) c.319+2102G>T c.1227G>T (p.Arg409=) | |
11 | g.71435710C>G | CA381702063 | DHCR7 | c.1093G>C (p.Asp365His) c.919G>C (p.Asp307His) c.1144G>C (p.Asp382His) c.1129G>C (p.Asp377His) c.1101G>C (p.Arg367=) n.1133G>C c.508G>C (p.Asp170His) c.997G>C (p.Asp333His) c.594G>C (p.Arg198=) c.343G>C (p.Asp115His) c.319+2102G>C c.1227G>C (p.Arg409=) | |
11 | g.71435710C>T | CA381702064 | DHCR7 | c.1093G>A (p.Asp365Asn) c.919G>A (p.Asp307Asn) c.1144G>A (p.Asp382Asn) c.1129G>A (p.Asp377Asn) c.1101G>A (p.Arg367=) n.1133G>A c.508G>A (p.Asp170Asn) c.997G>A (p.Asp333Asn) c.594G>A (p.Arg198=) c.343G>A (p.Asp115Asn) c.319+2102G>A c.1227G>A (p.Arg409=) | |
11 | g.71435711C>A | CA381702065 | DHCR7 | c.1092G>T (p.Thr364=) c.918G>T (p.Thr306=) c.1143G>T (p.Thr381=) c.1128G>T (p.Thr376=) c.1100G>T (p.Arg367Leu) n.1132G>T c.507G>T (p.Thr169=) c.996G>T (p.Thr332=) c.593G>T (p.Arg198Leu) c.342G>T (p.Thr114=) c.319+2101G>T c.1226G>T (p.Arg409Leu) | |
11 | g.71435711C= | CA1981486972 | DHCR7 | c.1092G= (p.Thr364=) c.918G= (p.Thr306=) c.1143G= (p.Thr381=) c.1128G= (p.Thr376=) c.1100G= (p.Arg367=) n.1132G= c.507G= (p.Thr169=) c.996G= (p.Thr332=) c.593G= (p.Arg198=) c.342G= (p.Thr114=) c.319+2101G= c.1226G= (p.Arg409=) | |
11 | g.71435711C>G | CA381702068 | DHCR7 | c.1092G>C (p.Thr364=) c.918G>C (p.Thr306=) c.1143G>C (p.Thr381=) c.1128G>C (p.Thr376=) c.1100G>C (p.Arg367Pro) n.1132G>C c.507G>C (p.Thr169=) c.996G>C (p.Thr332=) c.593G>C (p.Arg198Pro) c.342G>C (p.Thr114=) c.319+2101G>C c.1226G>C (p.Arg409Pro) | |
11 | g.71435711C>T | CA179963 | DHCR7 | c.1092G>A (p.Thr364=) c.918G>A (p.Thr306=) c.1143G>A (p.Thr381=) c.1128G>A (p.Thr376=) c.1100G>A (p.Arg367Gln) n.1132G>A c.507G>A (p.Thr169=) c.996G>A (p.Thr332=) c.593G>A (p.Arg198Gln) c.342G>A (p.Thr114=) c.319+2101G>A c.1226G>A (p.Arg409Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435712G>A | CA6162314 | DHCR7 | c.1091C>T (p.Thr364Met) c.917C>T (p.Thr306Met) c.1142C>T (p.Thr381Met) c.1127C>T (p.Thr376Met) c.1099C>T (p.Arg367Trp) n.1131C>T c.506C>T (p.Thr169Met) c.995C>T (p.Thr332Met) c.592C>T (p.Arg198Trp) c.341C>T (p.Thr114Met) c.319+2100C>T c.1225C>T (p.Arg409Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435712G>C | CA381702071 | DHCR7 | c.1091C>G (p.Thr364Arg) c.917C>G (p.Thr306Arg) c.1142C>G (p.Thr381Arg) c.1127C>G (p.Thr376Arg) c.1099C>G (p.Arg367Gly) n.1131C>G c.506C>G (p.Thr169Arg) c.995C>G (p.Thr332Arg) c.592C>G (p.Arg198Gly) c.341C>G (p.Thr114Arg) c.319+2100C>G c.1225C>G (p.Arg409Gly) | |
11 | g.71435712G= | CA1981486973 | DHCR7 | c.1091C= (p.Thr364=) c.917C= (p.Thr306=) c.1142C= (p.Thr381=) c.1127C= (p.Thr376=) c.1099C= (p.Arg367=) n.1131C= c.506C= (p.Thr169=) c.995C= (p.Thr332=) c.592C= (p.Arg198=) c.341C= (p.Thr114=) c.319+2100C= c.1225C= (p.Arg409=) | |
11 | g.71435712G>T | CA381702073 | DHCR7 | c.1091C>A (p.Thr364Lys) c.917C>A (p.Thr306Lys) c.1142C>A (p.Thr381Lys) c.1127C>A (p.Thr376Lys) c.1099C>A (p.Arg367=) n.1131C>A c.506C>A (p.Thr169Lys) c.995C>A (p.Thr332Lys) c.592C>A (p.Arg198=) c.341C>A (p.Thr114Lys) c.319+2100C>A c.1225C>A (p.Arg409=) | |
11 | g.71435713T>A | CA381702075 | DHCR7 | c.1090A>T (p.Thr364Ser) c.916A>T (p.Thr306Ser) c.1141A>T (p.Thr381Ser) c.1126A>T (p.Thr376Ser) c.1098A>T (p.Ala366=) n.1130A>T c.505A>T (p.Thr169Ser) c.994A>T (p.Thr332Ser) c.591A>T (p.Ala197=) c.340A>T (p.Thr114Ser) c.319+2099A>T c.1224A>T (p.Ala408=) | |
11 | g.71435713T>C | CA381702076 | DHCR7 | c.1090A>G (p.Thr364Ala) c.916A>G (p.Thr306Ala) c.1141A>G (p.Thr381Ala) c.1126A>G (p.Thr376Ala) c.1098A>G (p.Ala366=) n.1130A>G c.505A>G (p.Thr169Ala) c.994A>G (p.Thr332Ala) c.591A>G (p.Ala197=) c.340A>G (p.Thr114Ala) c.319+2099A>G c.1224A>G (p.Ala408=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435713T>G | CA381702079 | DHCR7 | c.1090A>C (p.Thr364Pro) c.916A>C (p.Thr306Pro) c.1141A>C (p.Thr381Pro) c.1126A>C (p.Thr376Pro) c.1098A>C (p.Ala366=) n.1130A>C c.505A>C (p.Thr169Pro) c.994A>C (p.Thr332Pro) c.591A>C (p.Ala197=) c.340A>C (p.Thr114Pro) c.319+2099A>C c.1224A>C (p.Ala408=) | |
11 | g.71435713T= | CA1981486974 | DHCR7 | c.1090A= (p.Thr364=) c.916A= (p.Thr306=) c.1141A= (p.Thr381=) c.1126A= (p.Thr376=) c.1098A= (p.Ala366=) n.1130A= c.505A= (p.Thr169=) c.994A= (p.Thr332=) c.591A= (p.Ala197=) c.340A= (p.Thr114=) c.319+2099A= c.1224A= (p.Ala408=) | |
11 | g.71435714G>A | CA381702081 | DHCR7 | c.1089C>T (p.Arg363=) c.915C>T (p.Arg305=) c.1140C>T (p.Arg380=) c.1125C>T (p.Arg375=) c.1097C>T (p.Ala366Val) n.1129C>T c.504C>T (p.Arg168=) c.993C>T (p.Arg331=) c.590C>T (p.Ala197Val) c.339C>T (p.Arg113=) c.319+2098C>T c.1223C>T (p.Ala408Val) | ClinVar gnomAD v4 COSMIC COSMIC |
11 | g.71435714G>C | CA381702082 | DHCR7 | c.1089C>G (p.Arg363=) c.915C>G (p.Arg305=) c.1140C>G (p.Arg380=) c.1125C>G (p.Arg375=) c.1097C>G (p.Ala366Gly) n.1129C>G c.504C>G (p.Arg168=) c.993C>G (p.Arg331=) c.590C>G (p.Ala197Gly) c.339C>G (p.Arg113=) c.319+2098C>G c.1223C>G (p.Ala408Gly) | |
11 | g.71435714G>T | CA381702080 | DHCR7 | c.1089C>A (p.Arg363=) c.915C>A (p.Arg305=) c.1140C>A (p.Arg380=) c.1125C>A (p.Arg375=) c.1097C>A (p.Ala366Glu) n.1129C>A c.504C>A (p.Arg168=) c.993C>A (p.Arg331=) c.590C>A (p.Ala197Glu) c.339C>A (p.Arg113=) c.319+2098C>A c.1223C>A (p.Ala408Glu) | |
11 | g.71435715C>A | CA224324448 | DHCR7 | c.1088G>T (p.Arg363Leu) c.914G>T (p.Arg305Leu) c.1139G>T (p.Arg380Leu) c.1124G>T (p.Arg375Leu) c.1096G>T (p.Ala366Ser) n.1128G>T c.503G>T (p.Arg168Leu) c.992G>T (p.Arg331Leu) c.589G>T (p.Ala197Ser) c.338G>T (p.Arg113Leu) c.319+2097G>T c.1222G>T (p.Ala408Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.71435715C= | CA1981486975 | DHCR7 | c.1088G= (p.Arg363=) c.914G= (p.Arg305=) c.1139G= (p.Arg380=) c.1124G= (p.Arg375=) c.1096G= (p.Ala366=) n.1128G= c.503G= (p.Arg168=) c.992G= (p.Arg331=) c.589G= (p.Ala197=) c.338G= (p.Arg113=) c.319+2097G= c.1222G= (p.Ala408=) | |
11 | g.71435715C>G | CA381702088 | DHCR7 | c.1088G>C (p.Arg363Pro) c.914G>C (p.Arg305Pro) c.1139G>C (p.Arg380Pro) c.1124G>C (p.Arg375Pro) c.1096G>C (p.Ala366Pro) n.1128G>C c.503G>C (p.Arg168Pro) c.992G>C (p.Arg331Pro) c.589G>C (p.Ala197Pro) c.338G>C (p.Arg113Pro) c.319+2097G>C c.1222G>C (p.Ala408Pro) | |
11 | g.71435715C>T | CA6162315 | DHCR7 | c.1088G>A (p.Arg363His) c.914G>A (p.Arg305His) c.1139G>A (p.Arg380His) c.1124G>A (p.Arg375His) c.1096G>A (p.Ala366Thr) n.1128G>A c.503G>A (p.Arg168His) c.992G>A (p.Arg331His) c.589G>A (p.Ala197Thr) c.338G>A (p.Arg113His) c.319+2097G>A c.1222G>A (p.Ala408Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435716G>A | CA6162316 | DHCR7 | c.1087C>T (p.Arg363Cys) c.913C>T (p.Arg305Cys) c.1138C>T (p.Arg380Cys) c.1123C>T (p.Arg375Cys) c.1095C>T (p.Ala365=) n.1127C>T c.502C>T (p.Arg168Cys) c.991C>T (p.Arg331Cys) c.588C>T (p.Ala196=) c.337C>T (p.Arg113Cys) c.319+2096C>T c.1221C>T (p.Ala407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435716G>C | CA381702090 | DHCR7 | c.1087C>G (p.Arg363Gly) c.913C>G (p.Arg305Gly) c.1138C>G (p.Arg380Gly) c.1123C>G (p.Arg375Gly) c.1095C>G (p.Ala365=) n.1127C>G c.502C>G (p.Arg168Gly) c.991C>G (p.Arg331Gly) c.588C>G (p.Ala196=) c.337C>G (p.Arg113Gly) c.319+2096C>G c.1221C>G (p.Ala407=) | |
11 | g.71435716G= | CA1981486976 | DHCR7 | c.1087C= (p.Arg363=) c.913C= (p.Arg305=) c.1138C= (p.Arg380=) c.1123C= (p.Arg375=) c.1095C= (p.Ala365=) n.1127C= c.502C= (p.Arg168=) c.991C= (p.Arg331=) c.588C= (p.Ala196=) c.337C= (p.Arg113=) c.319+2096C= c.1221C= (p.Ala407=) | |
11 | g.71435716G>T | CA381702092 | DHCR7 | c.1087C>A (p.Arg363Ser) c.913C>A (p.Arg305Ser) c.1138C>A (p.Arg380Ser) c.1123C>A (p.Arg375Ser) c.1095C>A (p.Ala365=) n.1127C>A c.502C>A (p.Arg168Ser) c.991C>A (p.Arg331Ser) c.588C>A (p.Ala196=) c.337C>A (p.Arg113Ser) c.319+2096C>A c.1221C>A (p.Ala407=) | |
11 | g.71435717G>A | CA381702093 | DHCR7 | c.1086C>T (p.Arg362=) c.912C>T (p.Arg304=) c.1137C>T (p.Arg379=) c.1122C>T (p.Arg374=) c.1094C>T (p.Ala365Val) n.1126C>T c.501C>T (p.Arg167=) c.990C>T (p.Arg330=) c.587C>T (p.Ala196Val) c.336C>T (p.Arg112=) c.319+2095C>T c.1220C>T (p.Ala407Val) | ClinVar dbSNP gnomAD v4 |
11 | g.71435717G>C | CA381702095 | DHCR7 | c.1086C>G (p.Arg362=) c.912C>G (p.Arg304=) c.1137C>G (p.Arg379=) c.1122C>G (p.Arg374=) c.1094C>G (p.Ala365Gly) n.1126C>G c.501C>G (p.Arg167=) c.990C>G (p.Arg330=) c.587C>G (p.Ala196Gly) c.336C>G (p.Arg112=) c.319+2095C>G c.1220C>G (p.Ala407Gly) | |
11 | g.71435717G= | CA1981486977 | DHCR7 | c.1086C= (p.Arg362=) c.912C= (p.Arg304=) c.1137C= (p.Arg379=) c.1122C= (p.Arg374=) c.1094C= (p.Ala365=) n.1126C= c.501C= (p.Arg167=) c.990C= (p.Arg330=) c.587C= (p.Ala196=) c.336C= (p.Arg112=) c.319+2095C= c.1220C= (p.Ala407=) | |
11 | g.71435717G>T | CA381702098 | DHCR7 | c.1086C>A (p.Arg362=) c.912C>A (p.Arg304=) c.1137C>A (p.Arg379=) c.1122C>A (p.Arg374=) c.1094C>A (p.Ala365Asp) n.1126C>A c.501C>A (p.Arg167=) c.990C>A (p.Arg330=) c.587C>A (p.Ala196Asp) c.336C>A (p.Arg112=) c.319+2095C>A c.1220C>A (p.Ala407Asp) | gnomAD v4 |
11 | g.71435718C>A | CA6162318 | DHCR7 | c.1085G>T (p.Arg362Leu) c.911G>T (p.Arg304Leu) c.1136G>T (p.Arg379Leu) c.1121G>T (p.Arg374Leu) c.1093G>T (p.Ala365Ser) n.1125G>T c.500G>T (p.Arg167Leu) c.989G>T (p.Arg330Leu) c.586G>T (p.Ala196Ser) c.335G>T (p.Arg112Leu) c.319+2094G>T c.1219G>T (p.Ala407Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435718C= | CA1981486978 | DHCR7 | c.1085G= (p.Arg362=) c.911G= (p.Arg304=) c.1136G= (p.Arg379=) c.1121G= (p.Arg374=) c.1093G= (p.Ala365=) n.1125G= c.500G= (p.Arg167=) c.989G= (p.Arg330=) c.586G= (p.Ala196=) c.335G= (p.Arg112=) c.319+2094G= c.1219G= (p.Ala407=) | |
11 | g.71435718C>G | CA381702101 | DHCR7 | c.1085G>C (p.Arg362Pro) c.911G>C (p.Arg304Pro) c.1136G>C (p.Arg379Pro) c.1121G>C (p.Arg374Pro) c.1093G>C (p.Ala365Pro) n.1125G>C c.500G>C (p.Arg167Pro) c.989G>C (p.Arg330Pro) c.586G>C (p.Ala196Pro) c.335G>C (p.Arg112Pro) c.319+2094G>C c.1219G>C (p.Ala407Pro) | |
11 | g.71435718C>T | CA6162317 | DHCR7 | c.1085G>A (p.Arg362His) c.911G>A (p.Arg304His) c.1136G>A (p.Arg379His) c.1121G>A (p.Arg374His) c.1093G>A (p.Ala365Thr) n.1125G>A c.500G>A (p.Arg167His) c.989G>A (p.Arg330His) c.586G>A (p.Ala196Thr) c.335G>A (p.Arg112His) c.319+2094G>A c.1219G>A (p.Ala407Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435719G>A | CA6162319 | DHCR7 | c.1084C>T (p.Arg362Cys) c.910C>T (p.Arg304Cys) c.1135C>T (p.Arg379Cys) c.1120C>T (p.Arg374Cys) c.1092C>T (p.Ser364=) n.1124C>T c.499C>T (p.Arg167Cys) c.988C>T (p.Arg330Cys) c.585C>T (p.Ser195=) c.334C>T (p.Arg112Cys) c.319+2093C>T c.1218C>T (p.Ser406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435719G>C | CA381702106 | DHCR7 | c.1084C>G (p.Arg362Gly) c.910C>G (p.Arg304Gly) c.1135C>G (p.Arg379Gly) c.1120C>G (p.Arg374Gly) c.1092C>G (p.Ser364=) n.1124C>G c.499C>G (p.Arg167Gly) c.988C>G (p.Arg330Gly) c.585C>G (p.Ser195=) c.334C>G (p.Arg112Gly) c.319+2093C>G c.1218C>G (p.Ser406=) | ClinVar dbSNP |
11 | g.71435719G= | CA1981486979 | DHCR7 | c.1084C= (p.Arg362=) c.910C= (p.Arg304=) c.1135C= (p.Arg379=) c.1120C= (p.Arg374=) c.1092C= (p.Ser364=) n.1124C= c.499C= (p.Arg167=) c.988C= (p.Arg330=) c.585C= (p.Ser195=) c.334C= (p.Arg112=) c.319+2093C= c.1218C= (p.Ser406=) | |
11 | g.71435719G>T | CA381702107 | DHCR7 | c.1084C>A (p.Arg362Ser) c.910C>A (p.Arg304Ser) c.1135C>A (p.Arg379Ser) c.1120C>A (p.Arg374Ser) c.1092C>A (p.Ser364=) n.1124C>A c.499C>A (p.Arg167Ser) c.988C>A (p.Arg330Ser) c.585C>A (p.Ser195=) c.334C>A (p.Arg112Ser) c.319+2093C>A c.1218C>A (p.Ser406=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435720del | CA2614857221 | DHCR7 | c.1084del (p.Arg362AlafsTer?) c.910del (p.Arg304AlafsTer?) c.1135del (p.Arg379AlafsTer?) c.1120del (p.Arg374AlafsTer?) c.1092del (p.Ala365ProfsTer?) n.1124del c.499del (p.Arg167AlafsTer?) c.988del (p.Arg330AlafsTer?) c.585del (p.Ala196ProfsTer?) c.334del (p.Arg112AlafsTer?) c.319+2093del c.1218del (p.Ala407ProfsTer?) | gnomAD v4 |
11 | g.71435720G>A | CA381702109 | DHCR7 | c.1083C>T (p.Phe361=) c.909C>T (p.Phe303=) c.1134C>T (p.Phe378=) c.1119C>T (p.Phe373=) c.1091C>T (p.Ser364Phe) n.1123C>T c.498C>T (p.Phe166=) c.987C>T (p.Phe329=) c.584C>T (p.Ser195Phe) c.333C>T (p.Phe111=) c.319+2092C>T c.1217C>T (p.Ser406Phe) | dbSNP |
11 | g.71435720G>C | CA381702110 | DHCR7 | c.1083C>G (p.Phe361Leu) c.909C>G (p.Phe303Leu) c.1134C>G (p.Phe378Leu) c.1119C>G (p.Phe373Leu) c.1091C>G (p.Ser364Cys) n.1123C>G c.498C>G (p.Phe166Leu) c.987C>G (p.Phe329Leu) c.584C>G (p.Ser195Cys) c.333C>G (p.Phe111Leu) c.319+2092C>G c.1217C>G (p.Ser406Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.71435720G= | CA1981486980 | DHCR7 | c.1083C= (p.Phe361=) c.909C= (p.Phe303=) c.1134C= (p.Phe378=) c.1119C= (p.Phe373=) c.1091C= (p.Ser364=) n.1123C= c.498C= (p.Phe166=) c.987C= (p.Phe329=) c.584C= (p.Ser195=) c.333C= (p.Phe111=) c.319+2092C= c.1217C= (p.Ser406=) | |
11 | g.71435720G>T | CA6162320 | DHCR7 | c.1083C>A (p.Phe361Leu) c.909C>A (p.Phe303Leu) c.1134C>A (p.Phe378Leu) c.1119C>A (p.Phe373Leu) c.1091C>A (p.Ser364Tyr) n.1123C>A c.498C>A (p.Phe166Leu) c.987C>A (p.Phe329Leu) c.584C>A (p.Ser195Tyr) c.333C>A (p.Phe111Leu) c.319+2092C>A c.1217C>A (p.Ser406Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435721A= | CA1981486982 | DHCR7 | c.1082T= (p.Phe361=) c.908T= (p.Phe303=) c.1133T= (p.Phe378=) c.1118T= (p.Phe373=) c.1090T= (p.Ser364=) n.1122T= c.497T= (p.Phe166=) c.986T= (p.Phe329=) c.583T= (p.Ser195=) c.332T= (p.Phe111=) c.319+2091T= c.1216T= (p.Ser406=) | |
11 | g.71435721A>C | CA381702113 | DHCR7 | c.1082T>G (p.Phe361Cys) c.908T>G (p.Phe303Cys) c.1133T>G (p.Phe378Cys) c.1118T>G (p.Phe373Cys) c.1090T>G (p.Ser364Ala) n.1122T>G c.497T>G (p.Phe166Cys) c.986T>G (p.Phe329Cys) c.583T>G (p.Ser195Ala) c.332T>G (p.Phe111Cys) c.319+2091T>G c.1216T>G (p.Ser406Ala) | |
11 | g.71435721A>G | CA381702115 | DHCR7 | c.1082T>C (p.Phe361Ser) c.908T>C (p.Phe303Ser) c.1133T>C (p.Phe378Ser) c.1118T>C (p.Phe373Ser) c.1090T>C (p.Ser364Pro) n.1122T>C c.497T>C (p.Phe166Ser) c.986T>C (p.Phe329Ser) c.583T>C (p.Ser195Pro) c.332T>C (p.Phe111Ser) c.319+2091T>C c.1216T>C (p.Ser406Pro) | dbSNP |
11 | g.71435721A>T | CA381702116 | DHCR7 | c.1082T>A (p.Phe361Tyr) c.908T>A (p.Phe303Tyr) c.1133T>A (p.Phe378Tyr) c.1118T>A (p.Phe373Tyr) c.1090T>A (p.Ser364Thr) n.1122T>A c.497T>A (p.Phe166Tyr) c.986T>A (p.Phe329Tyr) c.583T>A (p.Ser195Thr) c.332T>A (p.Phe111Tyr) c.319+2091T>A c.1216T>A (p.Ser406Thr) | |
11 | g.71435721_71435723delinsAAC | CA1981486981 | DHCR7 | c.1080_1082delinsGTT (p.Leu360=) c.906_908delinsGTT (p.Leu302=) c.1131_1133delinsGTT (p.Leu377=) c.1116_1118delinsGTT (p.Leu372=) c.1088_1090delinsGTT (p.Cys363=) n.1120_1122delinsGTT c.495_497delinsGTT (p.Leu165=) c.984_986delinsGTT (p.Leu328=) c.581_583delinsGTT (p.Cys194=) c.330_332delinsGTT (p.Leu110=) c.319+2089_319+2091delinsGTT c.1214_1216delinsGTT (p.Cys405=) | |
11 | g.71435722A>C | CA381702118 | DHCR7 | c.1081T>G (p.Phe361Val) c.907T>G (p.Phe303Val) c.1132T>G (p.Phe378Val) c.1117T>G (p.Phe373Val) c.1089T>G (p.Cys363Trp) n.1121T>G c.496T>G (p.Phe166Val) c.985T>G (p.Phe329Val) c.582T>G (p.Cys194Trp) c.331T>G (p.Phe111Val) c.319+2090T>G c.1215T>G (p.Cys405Trp) | |
11 | g.71435722A>G | CA381702119 | DHCR7 | c.1081T>C (p.Phe361Leu) c.907T>C (p.Phe303Leu) c.1132T>C (p.Phe378Leu) c.1117T>C (p.Phe373Leu) c.1089T>C (p.Cys363=) n.1121T>C c.496T>C (p.Phe166Leu) c.985T>C (p.Phe329Leu) c.582T>C (p.Cys194=) c.331T>C (p.Phe111Leu) c.319+2090T>C c.1215T>C (p.Cys405=) | |
11 | g.71435722A>T | CA381702121 | DHCR7 | c.1081T>A (p.Phe361Ile) c.907T>A (p.Phe303Ile) c.1132T>A (p.Phe378Ile) c.1117T>A (p.Phe373Ile) c.1089T>A (p.Cys363Ter) n.1121T>A c.496T>A (p.Phe166Ile) c.985T>A (p.Phe329Ile) c.582T>A (p.Cys194Ter) c.331T>A (p.Phe111Ile) c.319+2090T>A c.1215T>A (p.Cys405Ter) | |
11 | g.71435723_71435724del | CA16041546 | DHCR7 | c.1080_1081del (p.Phe361ProfsTer?) c.906_907del (p.Phe303ProfsTer?) c.1131_1132del (p.Phe378ProfsTer?) c.1116_1117del (p.Phe373ProfsTer?) c.1088_1089del (p.Cys363PhefsTer?) n.1120_1121del c.495_496del (p.Phe166ProfsTer?) c.984_985del (p.Phe329ProfsTer?) c.581_582del (p.Cys194PhefsTer?) c.330_331del (p.Phe111ProfsTer?) c.319+2089_319+2090del c.1214_1215del (p.Cys405PhefsTer?) | ClinVar dbSNP |
11 | g.71435723C>A | CA381702124 | DHCR7 | c.1080G>T (p.Leu360=) c.906G>T (p.Leu302=) c.1131G>T (p.Leu377=) c.1116G>T (p.Leu372=) c.1088G>T (p.Cys363Phe) n.1120G>T c.495G>T (p.Leu165=) c.984G>T (p.Leu328=) c.581G>T (p.Cys194Phe) c.330G>T (p.Leu110=) c.319+2089G>T c.1214G>T (p.Cys405Phe) | |
11 | g.71435723C>G | CA381702125 | DHCR7 | c.1080G>C (p.Leu360=) c.906G>C (p.Leu302=) c.1131G>C (p.Leu377=) c.1116G>C (p.Leu372=) c.1088G>C (p.Cys363Ser) n.1120G>C c.495G>C (p.Leu165=) c.984G>C (p.Leu328=) c.581G>C (p.Cys194Ser) c.330G>C (p.Leu110=) c.319+2089G>C c.1214G>C (p.Cys405Ser) | |
11 | g.71435723C>T | CA381702126 | DHCR7 | c.1080G>A (p.Leu360=) c.906G>A (p.Leu302=) c.1131G>A (p.Leu377=) c.1116G>A (p.Leu372=) c.1088G>A (p.Cys363Tyr) n.1120G>A c.495G>A (p.Leu165=) c.984G>A (p.Leu328=) c.581G>A (p.Cys194Tyr) c.330G>A (p.Leu110=) c.319+2089G>A c.1214G>A (p.Cys405Tyr) | |
11 | g.71435724A= | CA1981486983 | DHCR7 | c.1079T= (p.Leu360=) c.905T= (p.Leu302=) c.1130T= (p.Leu377=) c.1115T= (p.Leu372=) c.1087T= (p.Cys363=) n.1119T= c.494T= (p.Leu165=) c.983T= (p.Leu328=) c.580T= (p.Cys194=) c.329T= (p.Leu110=) c.319+2088T= c.1213T= (p.Cys405=) | |
11 | g.71435724A>C | CA381702130 | DHCR7 | c.1079T>G (p.Leu360Arg) c.905T>G (p.Leu302Arg) c.1130T>G (p.Leu377Arg) c.1115T>G (p.Leu372Arg) c.1087T>G (p.Cys363Gly) n.1119T>G c.494T>G (p.Leu165Arg) c.983T>G (p.Leu328Arg) c.580T>G (p.Cys194Gly) c.329T>G (p.Leu110Arg) c.319+2088T>G c.1213T>G (p.Cys405Gly) | |
11 | g.71435724A>G | CA381702131 | DHCR7 | c.1079T>C (p.Leu360Pro) c.905T>C (p.Leu302Pro) c.1130T>C (p.Leu377Pro) c.1115T>C (p.Leu372Pro) c.1087T>C (p.Cys363Arg) n.1119T>C c.494T>C (p.Leu165Pro) c.983T>C (p.Leu328Pro) c.580T>C (p.Cys194Arg) c.329T>C (p.Leu110Pro) c.319+2088T>C c.1213T>C (p.Cys405Arg) | ClinVar dbSNP |
11 | g.71435724A>T | CA381702128 | DHCR7 | c.1079T>A (p.Leu360Gln) c.905T>A (p.Leu302Gln) c.1130T>A (p.Leu377Gln) c.1115T>A (p.Leu372Gln) c.1087T>A (p.Cys363Ser) n.1119T>A c.494T>A (p.Leu165Gln) c.983T>A (p.Leu328Gln) c.580T>A (p.Cys194Ser) c.329T>A (p.Leu110Gln) c.319+2088T>A c.1213T>A (p.Cys405Ser) | COSMIC COSMIC |
11 | g.71435725G>A | CA475861116 | DHCR7 | c.1078C>T (p.Leu360=) c.904C>T (p.Leu302=) c.1129C>T (p.Leu377=) c.1114C>T (p.Leu372=) c.1086C>T (p.Thr362=) n.1118C>T c.493C>T (p.Leu165=) c.982C>T (p.Leu328=) c.579C>T (p.Thr193=) c.328C>T (p.Leu110=) c.319+2087C>T c.1212C>T (p.Thr404=) | |
11 | g.71435725G>C | CA381702132 | DHCR7 | c.1078C>G (p.Leu360Val) c.904C>G (p.Leu302Val) c.1129C>G (p.Leu377Val) c.1114C>G (p.Leu372Val) c.1086C>G (p.Thr362=) n.1118C>G c.493C>G (p.Leu165Val) c.982C>G (p.Leu328Val) c.579C>G (p.Thr193=) c.328C>G (p.Leu110Val) c.319+2087C>G c.1212C>G (p.Thr404=) | |
11 | g.71435725G= | CA1981486984 | DHCR7 | c.1078C= (p.Leu360=) c.904C= (p.Leu302=) c.1129C= (p.Leu377=) c.1114C= (p.Leu372=) c.1086C= (p.Thr362=) n.1118C= c.493C= (p.Leu165=) c.982C= (p.Leu328=) c.579C= (p.Thr193=) c.328C= (p.Leu110=) c.319+2087C= c.1212C= (p.Thr404=) | |
11 | g.71435725G>T | CA381702134 | DHCR7 | c.1078C>A (p.Leu360Met) c.904C>A (p.Leu302Met) c.1129C>A (p.Leu377Met) c.1114C>A (p.Leu372Met) c.1086C>A (p.Thr362=) n.1118C>A c.493C>A (p.Leu165Met) c.982C>A (p.Leu328Met) c.579C>A (p.Thr193=) c.328C>A (p.Leu110Met) c.319+2087C>A c.1212C>A (p.Thr404=) | |
11 | g.71435726G>A | CA381702136 | DHCR7 | c.1077C>T (p.Asp359=) c.903C>T (p.Asp301=) c.1128C>T (p.Asp376=) c.1113C>T (p.Asp371=) c.1085C>T (p.Thr362Ile) n.1117C>T c.492C>T (p.Asp164=) c.981C>T (p.Asp327=) c.578C>T (p.Thr193Ile) c.327C>T (p.Asp109=) c.319+2086C>T c.1211C>T (p.Thr404Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435726G>C | CA381702137 | DHCR7 | c.1077C>G (p.Asp359Glu) c.903C>G (p.Asp301Glu) c.1128C>G (p.Asp376Glu) c.1113C>G (p.Asp371Glu) c.1085C>G (p.Thr362Ser) n.1117C>G c.492C>G (p.Asp164Glu) c.981C>G (p.Asp327Glu) c.578C>G (p.Thr193Ser) c.327C>G (p.Asp109Glu) c.319+2086C>G c.1211C>G (p.Thr404Ser) | ClinVar |
11 | g.71435726G= | CA1981486985 | DHCR7 | c.1077C= (p.Asp359=) c.903C= (p.Asp301=) c.1128C= (p.Asp376=) c.1113C= (p.Asp371=) c.1085C= (p.Thr362=) n.1117C= c.492C= (p.Asp164=) c.981C= (p.Asp327=) c.578C= (p.Thr193=) c.327C= (p.Asp109=) c.319+2086C= c.1211C= (p.Thr404=) | |
11 | g.71435726G>T | CA381702139 | DHCR7 | c.1077C>A (p.Asp359Glu) c.903C>A (p.Asp301Glu) c.1128C>A (p.Asp376Glu) c.1113C>A (p.Asp371Glu) c.1085C>A (p.Thr362Asn) n.1117C>A c.492C>A (p.Asp164Glu) c.981C>A (p.Asp327Glu) c.578C>A (p.Thr193Asn) c.327C>A (p.Asp109Glu) c.319+2086C>A c.1211C>A (p.Thr404Asn) | dbSNP |
11 | g.71435726_71435727dup | CA600241192 | DHCR7 | c.1076_1077dup (p.Leu360ThrfsTer?) c.902_903dup (p.Leu302ThrfsTer?) c.1127_1128dup (p.Leu377ThrfsTer?) c.1112_1113dup (p.Leu372ThrfsTer?) c.1084_1085dup (p.Cys363ProfsTer?) n.1116_1117dup c.491_492dup (p.Leu165ThrfsTer?) c.980_981dup (p.Leu328ThrfsTer?) c.577_578dup (p.Cys194ProfsTer?) c.326_327dup (p.Leu110ThrfsTer?) c.319+2085_319+2086dup c.1210_1211dup (p.Cys405ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435727T>A | CA381702144 | DHCR7 | c.1076A>T (p.Asp359Val) c.902A>T (p.Asp301Val) c.1127A>T (p.Asp376Val) c.1112A>T (p.Asp371Val) c.1084A>T (p.Thr362Ser) n.1116A>T c.491A>T (p.Asp164Val) c.980A>T (p.Asp327Val) c.577A>T (p.Thr193Ser) c.326A>T (p.Asp109Val) c.319+2085A>T c.1210A>T (p.Thr404Ser) | |
11 | g.71435727T>C | CA381702142 | DHCR7 | c.1076A>G (p.Asp359Gly) c.902A>G (p.Asp301Gly) c.1127A>G (p.Asp376Gly) c.1112A>G (p.Asp371Gly) c.1084A>G (p.Thr362Ala) n.1116A>G c.491A>G (p.Asp164Gly) c.980A>G (p.Asp327Gly) c.577A>G (p.Thr193Ala) c.326A>G (p.Asp109Gly) c.319+2085A>G c.1210A>G (p.Thr404Ala) | gnomAD v4 |
11 | g.71435727T>G | CA381702140 | DHCR7 | c.1076A>C (p.Asp359Ala) c.902A>C (p.Asp301Ala) c.1127A>C (p.Asp376Ala) c.1112A>C (p.Asp371Ala) c.1084A>C (p.Thr362Pro) n.1116A>C c.491A>C (p.Asp164Ala) c.980A>C (p.Asp327Ala) c.577A>C (p.Thr193Pro) c.326A>C (p.Asp109Ala) c.319+2085A>C c.1210A>C (p.Thr404Pro) | dbSNP |
11 | g.71435727T= | CA1981486986 | DHCR7 | c.1076A= (p.Asp359=) c.902A= (p.Asp301=) c.1127A= (p.Asp376=) c.1112A= (p.Asp371=) c.1084A= (p.Thr362=) n.1116A= c.491A= (p.Asp164=) c.980A= (p.Asp327=) c.577A= (p.Thr193=) c.326A= (p.Asp109=) c.319+2085A= c.1210A= (p.Thr404=) | |
11 | g.71435728C>A | CA381702145 | DHCR7 | c.1075G>T (p.Asp359Tyr) c.901G>T (p.Asp301Tyr) c.1126G>T (p.Asp376Tyr) c.1111G>T (p.Asp371Tyr) c.1083G>T (p.Arg361Ser) n.1115G>T c.490G>T (p.Asp164Tyr) c.979G>T (p.Asp327Tyr) c.576G>T (p.Arg192Ser) c.325G>T (p.Asp109Tyr) c.319+2084G>T c.1209G>T (p.Arg403Ser) | |
11 | g.71435728C>G | CA381702146 | DHCR7 | c.1075G>C (p.Asp359His) c.901G>C (p.Asp301His) c.1126G>C (p.Asp376His) c.1111G>C (p.Asp371His) c.1083G>C (p.Arg361Ser) n.1115G>C c.490G>C (p.Asp164His) c.979G>C (p.Asp327His) c.576G>C (p.Arg192Ser) c.325G>C (p.Asp109His) c.319+2084G>C c.1209G>C (p.Arg403Ser) | |
11 | g.71435728C>T | CA381702147 | DHCR7 | c.1075G>A (p.Asp359Asn) c.901G>A (p.Asp301Asn) c.1126G>A (p.Asp376Asn) c.1111G>A (p.Asp371Asn) c.1083G>A (p.Arg361=) n.1115G>A c.490G>A (p.Asp164Asn) c.979G>A (p.Asp327Asn) c.576G>A (p.Arg192=) c.325G>A (p.Asp109Asn) c.319+2084G>A c.1209G>A (p.Arg403=) | |
11 | g.71435729C>A | CA381702148 | DHCR7 | c.1074G>T (p.Lys358Asn) c.900G>T (p.Lys300Asn) c.1125G>T (p.Lys375Asn) c.1110G>T (p.Lys370Asn) c.1082G>T (p.Arg361Met) n.1114G>T c.489G>T (p.Lys163Asn) c.978G>T (p.Lys326Asn) c.575G>T (p.Arg192Met) c.324G>T (p.Lys108Asn) c.319+2083G>T c.1208G>T (p.Arg403Met) | |
11 | g.71435729C= | CA1981486987 | DHCR7 | c.1074G= (p.Lys358=) c.900G= (p.Lys300=) c.1125G= (p.Lys375=) c.1110G= (p.Lys370=) c.1082G= (p.Arg361=) n.1114G= c.489G= (p.Lys163=) c.978G= (p.Lys326=) c.575G= (p.Arg192=) c.324G= (p.Lys108=) c.319+2083G= c.1208G= (p.Arg403=) | |
11 | g.71435729C>G | CA381702149 | DHCR7 | c.1074G>C (p.Lys358Asn) c.900G>C (p.Lys300Asn) c.1125G>C (p.Lys375Asn) c.1110G>C (p.Lys370Asn) c.1082G>C (p.Arg361Thr) n.1114G>C c.489G>C (p.Lys163Asn) c.978G>C (p.Lys326Asn) c.575G>C (p.Arg192Thr) c.324G>C (p.Lys108Asn) c.319+2083G>C c.1208G>C (p.Arg403Thr) | |
11 | g.71435729C>T | CA6162321 | DHCR7 | c.1074G>A (p.Lys358=) c.900G>A (p.Lys300=) c.1125G>A (p.Lys375=) c.1110G>A (p.Lys370=) c.1082G>A (p.Arg361Lys) n.1114G>A c.489G>A (p.Lys163=) c.978G>A (p.Lys326=) c.575G>A (p.Arg192Lys) c.324G>A (p.Lys108=) c.319+2083G>A c.1208G>A (p.Arg403Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435729_71435730delinsCT | CA1981486988 | DHCR7 | c.1073_1074delinsAG (p.Lys358=) c.899_900delinsAG (p.Lys300=) c.1124_1125delinsAG (p.Lys375=) c.1109_1110delinsAG (p.Lys370=) c.1081_1082delinsAG (p.Arg361=) n.1113_1114delinsAG c.488_489delinsAG (p.Lys163=) c.977_978delinsAG (p.Lys326=) c.574_575delinsAG (p.Arg192=) c.323_324delinsAG (p.Lys108=) c.319+2082_319+2083delinsAG c.1207_1208delinsAG (p.Arg403=) | |
11 | g.71435730T>A | CA381702152 | DHCR7 | c.1073A>T (p.Lys358Met) c.899A>T (p.Lys300Met) c.1124A>T (p.Lys375Met) c.1109A>T (p.Lys370Met) c.1081A>T (p.Arg361Trp) n.1113A>T c.488A>T (p.Lys163Met) c.977A>T (p.Lys326Met) c.574A>T (p.Arg192Trp) c.323A>T (p.Lys108Met) c.319+2082A>T c.1207A>T (p.Arg403Trp) | |
11 | g.71435730T>C | CA381702155 | DHCR7 | c.1073A>G (p.Lys358Arg) c.899A>G (p.Lys300Arg) c.1124A>G (p.Lys375Arg) c.1109A>G (p.Lys370Arg) c.1081A>G (p.Arg361Gly) n.1113A>G c.488A>G (p.Lys163Arg) c.977A>G (p.Lys326Arg) c.574A>G (p.Arg192Gly) c.323A>G (p.Lys108Arg) c.319+2082A>G c.1207A>G (p.Arg403Gly) | |
11 | g.71435730T>G | CA381702154 | DHCR7 | c.1073A>C (p.Lys358Thr) c.899A>C (p.Lys300Thr) c.1124A>C (p.Lys375Thr) c.1109A>C (p.Lys370Thr) c.1081A>C (p.Arg361=) n.1113A>C c.488A>C (p.Lys163Thr) c.977A>C (p.Lys326Thr) c.574A>C (p.Arg192=) c.323A>C (p.Lys108Thr) c.319+2082A>C c.1207A>C (p.Arg403=) | dbSNP |
11 | g.71435730T= | CA1981486989 | DHCR7 | c.1073A= (p.Lys358=) c.899A= (p.Lys300=) c.1124A= (p.Lys375=) c.1109A= (p.Lys370=) c.1081A= (p.Arg361=) n.1113A= c.488A= (p.Lys163=) c.977A= (p.Lys326=) c.574A= (p.Arg192=) c.323A= (p.Lys108=) c.319+2082A= c.1207A= (p.Arg403=) | |
11 | g.71435731del | CA1981486990 | DHCR7 | c.1073del (p.Lys358ArgfsTer?) c.899del (p.Lys300ArgfsTer?) c.1124del (p.Lys375ArgfsTer?) c.1109del (p.Lys370ArgfsTer?) c.1081del (p.Arg361GlyfsTer?) n.1113del c.488del (p.Lys163ArgfsTer?) c.977del (p.Lys326ArgfsTer?) c.574del (p.Arg192GlyfsTer?) c.323del (p.Lys108ArgfsTer?) c.319+2082del c.1207del (p.Arg403GlyfsTer?) | dbSNP |
11 | g.71435731T>A | CA381702156 | DHCR7 | c.1072A>T (p.Lys358Ter) c.898A>T (p.Lys300Ter) c.1123A>T (p.Lys375Ter) c.1108A>T (p.Lys370Ter) c.1080A>T (p.Arg360Ser) n.1112A>T c.487A>T (p.Lys163Ter) c.976A>T (p.Lys326Ter) c.573A>T (p.Arg191Ser) c.322A>T (p.Lys108Ter) c.319+2081A>T c.1206A>T (p.Arg402Ser) | |
11 | g.71435731T>C | CA381702157 | DHCR7 | c.1072A>G (p.Lys358Glu) c.898A>G (p.Lys300Glu) c.1123A>G (p.Lys375Glu) c.1108A>G (p.Lys370Glu) c.1080A>G (p.Arg360=) n.1112A>G c.487A>G (p.Lys163Glu) c.976A>G (p.Lys326Glu) c.573A>G (p.Arg191=) c.322A>G (p.Lys108Glu) c.319+2081A>G c.1206A>G (p.Arg402=) | |
11 | g.71435731T>G | CA381702158 | DHCR7 | c.1072A>C (p.Lys358Gln) c.898A>C (p.Lys300Gln) c.1123A>C (p.Lys375Gln) c.1108A>C (p.Lys370Gln) c.1080A>C (p.Arg360Ser) n.1112A>C c.487A>C (p.Lys163Gln) c.976A>C (p.Lys326Gln) c.573A>C (p.Arg191Ser) c.322A>C (p.Lys108Gln) c.319+2081A>C c.1206A>C (p.Arg402Ser) | |
11 | g.71435732C>A | CA6162322 | DHCR7 | c.1071G>T (p.Gln357His) c.897G>T (p.Gln299His) c.1122G>T (p.Gln374His) c.1107G>T (p.Gln369His) c.1079G>T (p.Arg360Ile) n.1111G>T c.486G>T (p.Gln162His) c.975G>T (p.Gln325His) c.572G>T (p.Arg191Ile) c.321G>T (p.Gln107His) c.319+2080G>T c.1205G>T (p.Arg402Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435732C= | CA1981486991 | DHCR7 | c.1071G= (p.Gln357=) c.897G= (p.Gln299=) c.1122G= (p.Gln374=) c.1107G= (p.Gln369=) c.1079G= (p.Arg360=) n.1111G= c.486G= (p.Gln162=) c.975G= (p.Gln325=) c.572G= (p.Arg191=) c.321G= (p.Gln107=) c.319+2080G= c.1205G= (p.Arg402=) | |
11 | g.71435732C>G | CA381702159 | DHCR7 | c.1071G>C (p.Gln357His) c.897G>C (p.Gln299His) c.1122G>C (p.Gln374His) c.1107G>C (p.Gln369His) c.1079G>C (p.Arg360Thr) n.1111G>C c.486G>C (p.Gln162His) c.975G>C (p.Gln325His) c.572G>C (p.Arg191Thr) c.321G>C (p.Gln107His) c.319+2080G>C c.1205G>C (p.Arg402Thr) | |
11 | g.71435732C>T | CA381702160 | DHCR7 | c.1071G>A (p.Gln357=) c.897G>A (p.Gln299=) c.1122G>A (p.Gln374=) c.1107G>A (p.Gln369=) c.1079G>A (p.Arg360Lys) n.1111G>A c.486G>A (p.Gln162=) c.975G>A (p.Gln325=) c.572G>A (p.Arg191Lys) c.321G>A (p.Gln107=) c.319+2080G>A c.1205G>A (p.Arg402Lys) | |
11 | g.71435733T>A | CA381702161 | DHCR7 | c.1070A>T (p.Gln357Leu) c.896A>T (p.Gln299Leu) c.1121A>T (p.Gln374Leu) c.1106A>T (p.Gln369Leu) c.1078A>T (p.Arg360Ter) n.1110A>T c.485A>T (p.Gln162Leu) c.974A>T (p.Gln325Leu) c.571A>T (p.Arg191Ter) c.320A>T (p.Gln107Leu) c.319+2079A>T c.1204A>T (p.Arg402Ter) | |
11 | g.71435733T>C | CA381702162 | DHCR7 | c.1070A>G (p.Gln357Arg) c.896A>G (p.Gln299Arg) c.1121A>G (p.Gln374Arg) c.1106A>G (p.Gln369Arg) c.1078A>G (p.Arg360Gly) n.1110A>G c.485A>G (p.Gln162Arg) c.974A>G (p.Gln325Arg) c.571A>G (p.Arg191Gly) c.320A>G (p.Gln107Arg) c.319+2079A>G c.1204A>G (p.Arg402Gly) | gnomAD v4 |
11 | g.71435733T>G | CA381702163 | DHCR7 | c.1070A>C (p.Gln357Pro) c.896A>C (p.Gln299Pro) c.1121A>C (p.Gln374Pro) c.1106A>C (p.Gln369Pro) c.1078A>C (p.Arg360=) n.1110A>C c.485A>C (p.Gln162Pro) c.974A>C (p.Gln325Pro) c.571A>C (p.Arg191=) c.320A>C (p.Gln107Pro) c.319+2079A>C c.1204A>C (p.Arg402=) | |
11 | g.71435737_71435739del | CA2614857236 | DHCR7 | c.1068_1070del (p.His356del) c.894_896del (p.His298del) c.1119_1121del (p.His373del) c.1104_1106del (p.His368del) c.1076_1078del (p.Thr359del) n.1108_1110del c.483_485del (p.His161del) c.972_974del (p.His324del) c.569_571del (p.Thr190del) c.318_320del (p.His106del) c.319+2077_319+2079del c.1202_1204del (p.Thr401del) | gnomAD v4 |
11 | g.71435734G>A | CA381702164 | DHCR7 | c.1069C>T (p.Gln357Ter) c.895C>T (p.Gln299Ter) c.1120C>T (p.Gln374Ter) c.1105C>T (p.Gln369Ter) c.1077C>T (p.Thr359=) n.1109C>T c.484C>T (p.Gln162Ter) c.973C>T (p.Gln325Ter) c.570C>T (p.Thr190=) c.319C>T (p.Gln107Ter) c.319+2078C>T c.1203C>T (p.Thr401=) | |
11 | g.71435734G>C | CA381702166 | DHCR7 | c.1069C>G (p.Gln357Glu) c.895C>G (p.Gln299Glu) c.1120C>G (p.Gln374Glu) c.1105C>G (p.Gln369Glu) c.1077C>G (p.Thr359=) n.1109C>G c.484C>G (p.Gln162Glu) c.973C>G (p.Gln325Glu) c.570C>G (p.Thr190=) c.319C>G (p.Gln107Glu) c.319+2078C>G c.1203C>G (p.Thr401=) | |
11 | g.71435734G>T | CA381702170 | DHCR7 | c.1069C>A (p.Gln357Lys) c.895C>A (p.Gln299Lys) c.1120C>A (p.Gln374Lys) c.1105C>A (p.Gln369Lys) c.1077C>A (p.Thr359=) n.1109C>A c.484C>A (p.Gln162Lys) c.973C>A (p.Gln325Lys) c.570C>A (p.Thr190=) c.319C>A (p.Gln107Lys) c.319+2078C>A c.1203C>A (p.Thr401=) | |
11 | g.71435735G>A | CA381702171 | DHCR7 | c.1068C>T (p.His356=) c.894C>T (p.His298=) c.1119C>T (p.His373=) c.1104C>T (p.His368=) c.1076C>T (p.Thr359Ile) n.1108C>T c.483C>T (p.His161=) c.972C>T (p.His324=) c.569C>T (p.Thr190Ile) c.318C>T (p.His106=) c.319+2077C>T c.1202C>T (p.Thr401Ile) | dbSNP gnomAD v2 |
11 | g.71435735G>C | CA381702174 | DHCR7 | c.1068C>G (p.His356Gln) c.894C>G (p.His298Gln) c.1119C>G (p.His373Gln) c.1104C>G (p.His368Gln) c.1076C>G (p.Thr359Ser) n.1108C>G c.483C>G (p.His161Gln) c.972C>G (p.His324Gln) c.569C>G (p.Thr190Ser) c.318C>G (p.His106Gln) c.319+2077C>G c.1202C>G (p.Thr401Ser) | |
11 | g.71435735G= | CA1981486992 | DHCR7 | c.1068C= (p.His356=) c.894C= (p.His298=) c.1119C= (p.His373=) c.1104C= (p.His368=) c.1076C= (p.Thr359=) n.1108C= c.483C= (p.His161=) c.972C= (p.His324=) c.569C= (p.Thr190=) c.318C= (p.His106=) c.319+2077C= c.1202C= (p.Thr401=) | |
11 | g.71435735G>T | CA381702173 | DHCR7 | c.1068C>A (p.His356Gln) c.894C>A (p.His298Gln) c.1119C>A (p.His373Gln) c.1104C>A (p.His368Gln) c.1076C>A (p.Thr359Asn) n.1108C>A c.483C>A (p.His161Gln) c.972C>A (p.His324Gln) c.569C>A (p.Thr190Asn) c.318C>A (p.His106Gln) c.319+2077C>A c.1202C>A (p.Thr401Asn) | |
11 | g.71435736T>A | CA381702176 | DHCR7 | c.1067A>T (p.His356Leu) c.893A>T (p.His298Leu) c.1118A>T (p.His373Leu) c.1103A>T (p.His368Leu) c.1075A>T (p.Thr359Ser) n.1107A>T c.482A>T (p.His161Leu) c.971A>T (p.His324Leu) c.568A>T (p.Thr190Ser) c.317A>T (p.His106Leu) c.319+2076A>T c.1201A>T (p.Thr401Ser) | |
11 | g.71435736T>C | CA381702179 | DHCR7 | c.1067A>G (p.His356Arg) c.893A>G (p.His298Arg) c.1118A>G (p.His373Arg) c.1103A>G (p.His368Arg) c.1075A>G (p.Thr359Ala) n.1107A>G c.482A>G (p.His161Arg) c.971A>G (p.His324Arg) c.568A>G (p.Thr190Ala) c.317A>G (p.His106Arg) c.319+2076A>G c.1201A>G (p.Thr401Ala) | |
11 | g.71435736T>G | CA381702178 | DHCR7 | c.1067A>C (p.His356Pro) c.893A>C (p.His298Pro) c.1118A>C (p.His373Pro) c.1103A>C (p.His368Pro) c.1075A>C (p.Thr359Pro) n.1107A>C c.482A>C (p.His161Pro) c.971A>C (p.His324Pro) c.568A>C (p.Thr190Pro) c.317A>C (p.His106Pro) c.319+2076A>C c.1201A>C (p.Thr401Pro) | |
11 | g.71435736_71435737delinsTG | CA1981486993 | DHCR7 | c.1066_1067delinsCA (p.His356=) c.892_893delinsCA (p.His298=) c.1117_1118delinsCA (p.His373=) c.1102_1103delinsCA (p.His368=) c.1074_1075delinsCA (p.Thr358=) n.1106_1107delinsCA c.481_482delinsCA (p.His161=) c.970_971delinsCA (p.His324=) c.567_568delinsCA (p.Thr189=) c.316_317delinsCA (p.His106=) c.319+2075_319+2076delinsCA c.1200_1201delinsCA (p.Thr400=) | |
11 | g.71435737G>A | CA381702181 | DHCR7 | c.1066C>T (p.His356Tyr) c.892C>T (p.His298Tyr) c.1117C>T (p.His373Tyr) c.1102C>T (p.His368Tyr) c.1074C>T (p.Thr358=) n.1106C>T c.481C>T (p.His161Tyr) c.970C>T (p.His324Tyr) c.567C>T (p.Thr189=) c.316C>T (p.His106Tyr) c.319+2075C>T c.1200C>T (p.Thr400=) | |
11 | g.71435737G>C | CA381702183 | DHCR7 | c.1066C>G (p.His356Asp) c.892C>G (p.His298Asp) c.1117C>G (p.His373Asp) c.1102C>G (p.His368Asp) c.1074C>G (p.Thr358=) n.1106C>G c.481C>G (p.His161Asp) c.970C>G (p.His324Asp) c.567C>G (p.Thr189=) c.316C>G (p.His106Asp) c.319+2075C>G c.1200C>G (p.Thr400=) | |
11 | g.71435737G>T | CA381702184 | DHCR7 | c.1066C>A (p.His356Asn) c.892C>A (p.His298Asn) c.1117C>A (p.His373Asn) c.1102C>A (p.His368Asn) c.1074C>A (p.Thr358=) n.1106C>A c.481C>A (p.His161Asn) c.970C>A (p.His324Asn) c.567C>A (p.Thr189=) c.316C>A (p.His106Asn) c.319+2075C>A c.1200C>A (p.Thr400=) | gnomAD v4 |
11 | g.71435738del | CA6162323 | DHCR7 | c.1066del (p.His356ThrfsTer?) c.892del (p.His298ThrfsTer?) c.1117del (p.His373ThrfsTer?) c.1102del (p.His368ThrfsTer?) c.1074del (p.Thr359ProfsTer?) n.1106del c.481del (p.His161ThrfsTer?) c.970del (p.His324ThrfsTer?) c.567del (p.Thr190ProfsTer?) c.316del (p.His106ThrfsTer?) c.319+2075del c.1200del (p.Thr401ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435738G>A | CA381702186 | DHCR7 | c.1065C>T (p.Asn355=) c.891C>T (p.Asn297=) c.1116C>T (p.Asn372=) c.1101C>T (p.Asn367=) c.1073C>T (p.Thr358Ile) n.1105C>T c.480C>T (p.Asn160=) c.969C>T (p.Asn323=) c.566C>T (p.Thr189Ile) c.315C>T (p.Asn105=) c.319+2074C>T c.1199C>T (p.Thr400Ile) | dbSNP |
11 | g.71435738G>C | CA381702187 | DHCR7 | c.1065C>G (p.Asn355Lys) c.891C>G (p.Asn297Lys) c.1116C>G (p.Asn372Lys) c.1101C>G (p.Asn367Lys) c.1073C>G (p.Thr358Ser) n.1105C>G c.480C>G (p.Asn160Lys) c.969C>G (p.Asn323Lys) c.566C>G (p.Thr189Ser) c.315C>G (p.Asn105Lys) c.319+2074C>G c.1199C>G (p.Thr400Ser) | |
11 | g.71435738G= | CA1981486994 | DHCR7 | c.1065C= (p.Asn355=) c.891C= (p.Asn297=) c.1116C= (p.Asn372=) c.1101C= (p.Asn367=) c.1073C= (p.Thr358=) n.1105C= c.480C= (p.Asn160=) c.969C= (p.Asn323=) c.566C= (p.Thr189=) c.315C= (p.Asn105=) c.319+2074C= c.1199C= (p.Thr400=) | |
11 | g.71435738G>T | CA381702189 | DHCR7 | c.1065C>A (p.Asn355Lys) c.891C>A (p.Asn297Lys) c.1116C>A (p.Asn372Lys) c.1101C>A (p.Asn367Lys) c.1073C>A (p.Thr358Asn) n.1105C>A c.480C>A (p.Asn160Lys) c.969C>A (p.Asn323Lys) c.566C>A (p.Thr189Asn) c.315C>A (p.Asn105Lys) c.319+2074C>A c.1199C>A (p.Thr400Asn) | |
11 | g.71435739T>A | CA381702191 | DHCR7 | c.1064A>T (p.Asn355Ile) c.890A>T (p.Asn297Ile) c.1115A>T (p.Asn372Ile) c.1100A>T (p.Asn367Ile) c.1072A>T (p.Thr358Ser) n.1104A>T c.479A>T (p.Asn160Ile) c.968A>T (p.Asn323Ile) c.565A>T (p.Thr189Ser) c.314A>T (p.Asn105Ile) c.319+2073A>T c.1198A>T (p.Thr400Ser) | |
11 | g.71435739T>C | CA381702193 | DHCR7 | c.1064A>G (p.Asn355Ser) c.890A>G (p.Asn297Ser) c.1115A>G (p.Asn372Ser) c.1100A>G (p.Asn367Ser) c.1072A>G (p.Thr358Ala) n.1104A>G c.479A>G (p.Asn160Ser) c.968A>G (p.Asn323Ser) c.565A>G (p.Thr189Ala) c.314A>G (p.Asn105Ser) c.319+2073A>G c.1198A>G (p.Thr400Ala) | |
11 | g.71435739T>G | CA381702194 | DHCR7 | c.1064A>C (p.Asn355Thr) c.890A>C (p.Asn297Thr) c.1115A>C (p.Asn372Thr) c.1100A>C (p.Asn367Thr) c.1072A>C (p.Thr358Pro) n.1104A>C c.479A>C (p.Asn160Thr) c.968A>C (p.Asn323Thr) c.565A>C (p.Thr189Pro) c.314A>C (p.Asn105Thr) c.319+2073A>C c.1198A>C (p.Thr400Pro) | dbSNP |
11 | g.71435739T= | CA1981486995 | DHCR7 | c.1064A= (p.Asn355=) c.890A= (p.Asn297=) c.1115A= (p.Asn372=) c.1100A= (p.Asn367=) c.1072A= (p.Thr358=) n.1104A= c.479A= (p.Asn160=) c.968A= (p.Asn323=) c.565A= (p.Thr189=) c.314A= (p.Asn105=) c.319+2073A= c.1198A= (p.Thr400=) | |
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.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.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.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 |