Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71435534G>A | CA6162275 | DHCR7 | c.1269C>T (p.Gly423=) c.1095C>T (p.Gly365=) c.1320C>T (p.Gly440=) c.1305C>T (p.Gly435=) c.*32C>T (n.*32C>T) n.1309C>T c.684C>T (p.Gly228=) c.1173C>T (p.Gly391=) c.770C>T (n.770C>T) c.519C>T (p.Gly173=) c.319+2278C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435534G>C | CA475860977 | DHCR7 | c.1269C>G (p.Gly423=) c.1095C>G (p.Gly365=) c.1320C>G (p.Gly440=) c.1305C>G (p.Gly435=) c.*32C>G (n.*32C>G) n.1309C>G c.684C>G (p.Gly228=) c.1173C>G (p.Gly391=) c.770C>G (n.770C>G) c.519C>G (p.Gly173=) c.319+2278C>G | |
11 | g.71435534G= | CA1981486874 | DHCR7 | c.1269C= (p.Gly423=) c.1095C= (p.Gly365=) c.1320C= (p.Gly440=) c.1305C= (p.Gly435=) c.*32C= (n.*32C=) n.1309C= c.684C= (p.Gly228=) c.1173C= (p.Gly391=) c.770C= (n.770C=) c.519C= (p.Gly173=) c.319+2278C= | |
11 | g.71435534G>T | CA475860978 | DHCR7 | c.1269C>A (p.Gly423=) c.1095C>A (p.Gly365=) c.1320C>A (p.Gly440=) c.1305C>A (p.Gly435=) c.*32C>A (n.*32C>A) n.1309C>A c.684C>A (p.Gly228=) c.1173C>A (p.Gly391=) c.770C>A (n.770C>A) c.519C>A (p.Gly173=) c.319+2278C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435535C>A | CA381701179 | DHCR7 | c.1268G>T (p.Gly423Val) c.1094G>T (p.Gly365Val) c.1319G>T (p.Gly440Val) c.1304G>T (p.Gly435Val) c.*31G>T (n.*31G>T) n.1308G>T c.683G>T (p.Gly228Val) c.1172G>T (p.Gly391Val) c.769G>T (n.769G>T) c.518G>T (p.Gly173Val) c.319+2277G>T | |
11 | g.71435535C>G | CA381701180 | DHCR7 | c.1268G>C (p.Gly423Ala) c.1094G>C (p.Gly365Ala) c.1319G>C (p.Gly440Ala) c.1304G>C (p.Gly435Ala) c.*31G>C (n.*31G>C) n.1308G>C c.683G>C (p.Gly228Ala) c.1172G>C (p.Gly391Ala) c.769G>C (n.769G>C) c.518G>C (p.Gly173Ala) c.319+2277G>C | |
11 | g.71435535C>T | CA381701176 | DHCR7 | c.1268G>A (p.Gly423Asp) c.1094G>A (p.Gly365Asp) c.1319G>A (p.Gly440Asp) c.1304G>A (p.Gly435Asp) c.*31G>A (n.*31G>A) n.1308G>A c.683G>A (p.Gly228Asp) c.1172G>A (p.Gly391Asp) c.769G>A (n.769G>A) c.518G>A (p.Gly173Asp) c.319+2277G>A | |
11 | g.71435536C>A | CA381701189 | DHCR7 | c.1267G>T (p.Gly423Cys) c.1093G>T (p.Gly365Cys) c.1318G>T (p.Gly440Cys) c.1303G>T (p.Gly435Cys) c.*30G>T (n.*30G>T) n.1307G>T c.682G>T (p.Gly228Cys) c.1171G>T (p.Gly391Cys) c.768G>T (n.768G>T) c.517G>T (p.Gly173Cys) c.319+2276G>T | |
11 | g.71435536C= | CA1981486875 | DHCR7 | c.1267G= (p.Gly423=) c.1093G= (p.Gly365=) c.1318G= (p.Gly440=) c.1303G= (p.Gly435=) c.*30G= (n.*30G=) n.1307G= c.682G= (p.Gly228=) c.1171G= (p.Gly391=) c.768G= (n.768G=) c.517G= (p.Gly173=) c.319+2276G= | |
11 | g.71435536C>G | CA381701184 | DHCR7 | c.1267G>C (p.Gly423Arg) c.1093G>C (p.Gly365Arg) c.1318G>C (p.Gly440Arg) c.1303G>C (p.Gly435Arg) c.*30G>C (n.*30G>C) n.1307G>C c.682G>C (p.Gly228Arg) c.1171G>C (p.Gly391Arg) c.768G>C (n.768G>C) c.517G>C (p.Gly173Arg) c.319+2276G>C | |
11 | g.71435536C>T | CA16619401 | DHCR7 | c.1267G>A (p.Gly423Ser) c.1093G>A (p.Gly365Ser) c.1318G>A (p.Gly440Ser) c.1303G>A (p.Gly435Ser) c.*30G>A (n.*30G>A) n.1307G>A c.682G>A (p.Gly228Ser) c.1171G>A (p.Gly391Ser) c.768G>A (n.768G>A) c.517G>A (p.Gly173Ser) c.319+2276G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435538_71435539del | CA2839231218 | DHCR7 | c.1266_1267del (p.Cys422TrpfsTer?) c.1092_1093del (p.Cys364TrpfsTer?) c.1317_1318del (p.Cys439TrpfsTer?) c.1302_1303del (p.Cys434TrpfsTer?) c.*29_*30del (n.*29_*30del) n.1306_1307del c.681_682del (p.Cys227TrpfsTer?) c.1170_1171del (p.Cys390TrpfsTer?) c.767_768del (n.767_768del) c.516_517del (p.Cys172TrpfsTer?) c.319+2275_319+2276del | |
11 | g.71435537A>C | CA381701191 | DHCR7 | c.1266T>G (p.Cys422Trp) c.1092T>G (p.Cys364Trp) c.1317T>G (p.Cys439Trp) c.1302T>G (p.Cys434Trp) c.*29T>G (n.*29T>G) n.1306T>G c.681T>G (p.Cys227Trp) c.1170T>G (p.Cys390Trp) c.767T>G (n.767T>G) c.516T>G (p.Cys172Trp) c.319+2275T>G | |
11 | g.71435537A>G | CA475860984 | DHCR7 | c.1266T>C (p.Cys422=) c.1092T>C (p.Cys364=) c.1317T>C (p.Cys439=) c.1302T>C (p.Cys434=) c.*29T>C (n.*29T>C) n.1306T>C c.681T>C (p.Cys227=) c.1170T>C (p.Cys390=) c.767T>C (n.767T>C) c.516T>C (p.Cys172=) c.319+2275T>C | dbSNP |
11 | g.71435537A>T | CA381701194 | DHCR7 | c.1266T>A (p.Cys422Ter) c.1092T>A (p.Cys364Ter) c.1317T>A (p.Cys439Ter) c.1302T>A (p.Cys434Ter) c.*29T>A (n.*29T>A) n.1306T>A c.681T>A (p.Cys227Ter) c.1170T>A (p.Cys390Ter) c.767T>A (n.767T>A) c.516T>A (p.Cys172Ter) c.319+2275T>A | |
11 | g.71435538C>A | CA381701197 | DHCR7 | c.1265G>T (p.Cys422Phe) c.1091G>T (p.Cys364Phe) c.1316G>T (p.Cys439Phe) c.1301G>T (p.Cys434Phe) c.*28G>T (n.*28G>T) n.1305G>T c.680G>T (p.Cys227Phe) c.1169G>T (p.Cys390Phe) c.766G>T (n.766G>T) c.515G>T (p.Cys172Phe) c.319+2274G>T | |
11 | g.71435538C>G | CA381701200 | DHCR7 | c.1265G>C (p.Cys422Ser) c.1091G>C (p.Cys364Ser) c.1316G>C (p.Cys439Ser) c.1301G>C (p.Cys434Ser) c.*28G>C (n.*28G>C) n.1305G>C c.680G>C (p.Cys227Ser) c.1169G>C (p.Cys390Ser) c.766G>C (n.766G>C) c.515G>C (p.Cys172Ser) c.319+2274G>C | |
11 | g.71435538C>T | CA381701201 | DHCR7 | c.1265G>A (p.Cys422Tyr) c.1091G>A (p.Cys364Tyr) c.1316G>A (p.Cys439Tyr) c.1301G>A (p.Cys434Tyr) c.*28G>A (n.*28G>A) n.1305G>A c.680G>A (p.Cys227Tyr) c.1169G>A (p.Cys390Tyr) c.766G>A (n.766G>A) c.515G>A (p.Cys172Tyr) c.319+2274G>A | |
11 | g.71435539A= | CA1981486876 | DHCR7 | c.1264T= (p.Cys422=) c.1090T= (p.Cys364=) c.1315T= (p.Cys439=) c.1300T= (p.Cys434=) c.*27T= (n.*27T=) n.1304T= c.679T= (p.Cys227=) c.1168T= (p.Cys390=) c.765T= (n.765T=) c.514T= (p.Cys172=) c.319+2273T= | |
11 | g.71435539A>C | CA381701202 | DHCR7 | c.1264T>G (p.Cys422Gly) c.1090T>G (p.Cys364Gly) c.1315T>G (p.Cys439Gly) c.1300T>G (p.Cys434Gly) c.*27T>G (n.*27T>G) n.1304T>G c.679T>G (p.Cys227Gly) c.1168T>G (p.Cys390Gly) c.765T>G (n.765T>G) c.514T>G (p.Cys172Gly) c.319+2273T>G | |
11 | g.71435539A>G | CA6162276 | DHCR7 | c.1264T>C (p.Cys422Arg) c.1090T>C (p.Cys364Arg) c.1315T>C (p.Cys439Arg) c.1300T>C (p.Cys434Arg) c.*27T>C (n.*27T>C) n.1304T>C c.679T>C (p.Cys227Arg) c.1168T>C (p.Cys390Arg) c.765T>C (n.765T>C) c.514T>C (p.Cys172Arg) c.319+2273T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435539A>T | CA381701208 | DHCR7 | c.1264T>A (p.Cys422Ser) c.1090T>A (p.Cys364Ser) c.1315T>A (p.Cys439Ser) c.1300T>A (p.Cys434Ser) c.*27T>A (n.*27T>A) n.1304T>A c.679T>A (p.Cys227Ser) c.1168T>A (p.Cys390Ser) c.765T>A (n.765T>A) c.514T>A (p.Cys172Ser) c.319+2273T>A | |
11 | g.71435548_71435559del | CA2529363413 | DHCR7 | c.1253_1264del (p.Tyr418_Ala421del) c.1079_1090del (p.Tyr360_Ala363del) c.1304_1315del (p.Tyr435_Ala438del) c.1289_1300del (p.Tyr430_Ala433del) c.*16_*27del (n.*16_*27del) n.1293_1304del c.668_679del (p.Tyr223_Ala226del) c.1157_1168del (p.Tyr386_Ala389del) c.754_765del (n.754_765del) c.503_514del (p.Tyr168_Ala171del) c.319+2262_319+2273del | |
11 | g.71435540G>A | CA475860988 | DHCR7 | c.1263C>T (p.Ala421=) c.1089C>T (p.Ala363=) c.1314C>T (p.Ala438=) c.1299C>T (p.Ala433=) c.*26C>T (n.*26C>T) n.1303C>T c.678C>T (p.Ala226=) c.1167C>T (p.Ala389=) c.764C>T (n.764C>T) c.513C>T (p.Ala171=) c.319+2272C>T | |
11 | g.71435540G>C | CA475860990 | DHCR7 | c.1263C>G (p.Ala421=) c.1089C>G (p.Ala363=) c.1314C>G (p.Ala438=) c.1299C>G (p.Ala433=) c.*26C>G (n.*26C>G) n.1303C>G c.678C>G (p.Ala226=) c.1167C>G (p.Ala389=) c.764C>G (n.764C>G) c.513C>G (p.Ala171=) c.319+2272C>G | |
11 | g.71435540G>T | CA475860986 | DHCR7 | c.1263C>A (p.Ala421=) c.1089C>A (p.Ala363=) c.1314C>A (p.Ala438=) c.1299C>A (p.Ala433=) c.*26C>A (n.*26C>A) n.1303C>A c.678C>A (p.Ala226=) c.1167C>A (p.Ala389=) c.764C>A (n.764C>A) c.513C>A (p.Ala171=) c.319+2272C>A | gnomAD v4 |
11 | g.71435541G>A | CA381701216 | DHCR7 | c.1262C>T (p.Ala421Val) c.1088C>T (p.Ala363Val) c.1313C>T (p.Ala438Val) c.1298C>T (p.Ala433Val) c.*25C>T (n.*25C>T) n.1302C>T c.677C>T (p.Ala226Val) c.1166C>T (p.Ala389Val) c.763C>T (n.763C>T) c.512C>T (p.Ala171Val) c.319+2271C>T | gnomAD v4 |
11 | g.71435541G>C | CA381701219 | DHCR7 | c.1262C>G (p.Ala421Gly) c.1088C>G (p.Ala363Gly) c.1313C>G (p.Ala438Gly) c.1298C>G (p.Ala433Gly) c.*25C>G (n.*25C>G) n.1302C>G c.677C>G (p.Ala226Gly) c.1166C>G (p.Ala389Gly) c.763C>G (n.763C>G) c.512C>G (p.Ala171Gly) c.319+2271C>G | |
11 | g.71435541G>T | CA381701220 | DHCR7 | c.1262C>A (p.Ala421Asp) c.1088C>A (p.Ala363Asp) c.1313C>A (p.Ala438Asp) c.1298C>A (p.Ala433Asp) c.*25C>A (n.*25C>A) n.1302C>A c.677C>A (p.Ala226Asp) c.1166C>A (p.Ala389Asp) c.763C>A (n.763C>A) c.512C>A (p.Ala171Asp) c.319+2271C>A | gnomAD v4 |
11 | g.71435542C>A | CA381701227 | DHCR7 | c.1261G>T (p.Ala421Ser) c.1087G>T (p.Ala363Ser) c.1312G>T (p.Ala438Ser) c.1297G>T (p.Ala433Ser) c.*24G>T (n.*24G>T) n.1301G>T c.676G>T (p.Ala226Ser) c.1165G>T (p.Ala389Ser) c.762G>T (n.762G>T) c.511G>T (p.Ala171Ser) c.319+2270G>T | |
11 | g.71435542C>G | CA381701223 | DHCR7 | c.1261G>C (p.Ala421Pro) c.1087G>C (p.Ala363Pro) c.1312G>C (p.Ala438Pro) c.1297G>C (p.Ala433Pro) c.*24G>C (n.*24G>C) n.1301G>C c.676G>C (p.Ala226Pro) c.1165G>C (p.Ala389Pro) c.762G>C (n.762G>C) c.511G>C (p.Ala171Pro) c.319+2270G>C | |
11 | g.71435542C>T | CA381701225 | DHCR7 | c.1261G>A (p.Ala421Thr) c.1087G>A (p.Ala363Thr) c.1312G>A (p.Ala438Thr) c.1297G>A (p.Ala433Thr) c.*24G>A (n.*24G>A) n.1301G>A c.676G>A (p.Ala226Thr) c.1165G>A (p.Ala389Thr) c.762G>A (n.762G>A) c.511G>A (p.Ala171Thr) c.319+2270G>A | |
11 | g.71435543C>A | CA475860992 | DHCR7 | c.1260G>T (p.Leu420=) c.1086G>T (p.Leu362=) c.1311G>T (p.Leu437=) c.1296G>T (p.Leu432=) c.*23G>T (n.*23G>T) n.1300G>T c.675G>T (p.Leu225=) c.1164G>T (p.Leu388=) c.761G>T (n.761G>T) c.510G>T (p.Leu170=) c.319+2269G>T | COSMIC COSMIC |
11 | g.71435543C= | CA1981486877 | DHCR7 | c.1260G= (p.Leu420=) c.1086G= (p.Leu362=) c.1311G= (p.Leu437=) c.1296G= (p.Leu432=) c.*23G= (n.*23G=) n.1300G= c.675G= (p.Leu225=) c.1164G= (p.Leu388=) c.761G= (n.761G=) c.510G= (p.Leu170=) c.319+2269G= | |
11 | g.71435543C>G | CA475860991 | DHCR7 | c.1260G>C (p.Leu420=) c.1086G>C (p.Leu362=) c.1311G>C (p.Leu437=) c.1296G>C (p.Leu432=) c.*23G>C (n.*23G>C) n.1300G>C c.675G>C (p.Leu225=) c.1164G>C (p.Leu388=) c.761G>C (n.761G>C) c.510G>C (p.Leu170=) c.319+2269G>C | |
11 | g.71435543C>T | CA6162277 | DHCR7 | c.1260G>A (p.Leu420=) c.1086G>A (p.Leu362=) c.1311G>A (p.Leu437=) c.1296G>A (p.Leu432=) c.*23G>A (n.*23G>A) n.1300G>A c.675G>A (p.Leu225=) c.1164G>A (p.Leu388=) c.761G>A (n.761G>A) c.510G>A (p.Leu170=) c.319+2269G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435544A>C | CA381701231 | DHCR7 | c.1259T>G (p.Leu420Arg) c.1085T>G (p.Leu362Arg) c.1310T>G (p.Leu437Arg) c.1295T>G (p.Leu432Arg) c.*22T>G (n.*22T>G) n.1299T>G c.674T>G (p.Leu225Arg) c.1163T>G (p.Leu388Arg) c.760T>G (n.760T>G) c.509T>G (p.Leu170Arg) c.319+2268T>G | |
11 | g.71435544A>G | CA381701237 | DHCR7 | c.1259T>C (p.Leu420Pro) c.1085T>C (p.Leu362Pro) c.1310T>C (p.Leu437Pro) c.1295T>C (p.Leu432Pro) c.*22T>C (n.*22T>C) n.1299T>C c.674T>C (p.Leu225Pro) c.1163T>C (p.Leu388Pro) c.760T>C (n.760T>C) c.509T>C (p.Leu170Pro) c.319+2268T>C | gnomAD v4 |
11 | g.71435544A>T | CA381701239 | DHCR7 | c.1259T>A (p.Leu420Gln) c.1085T>A (p.Leu362Gln) c.1310T>A (p.Leu437Gln) c.1295T>A (p.Leu432Gln) c.*22T>A (n.*22T>A) n.1299T>A c.674T>A (p.Leu225Gln) c.1163T>A (p.Leu388Gln) c.760T>A (n.760T>A) c.509T>A (p.Leu170Gln) c.319+2268T>A | |
11 | g.71435545G>A | CA475860993 | DHCR7 | c.1258C>T (p.Leu420=) c.1084C>T (p.Leu362=) c.1309C>T (p.Leu437=) c.1294C>T (p.Leu432=) c.*21C>T (n.*21C>T) n.1298C>T c.673C>T (p.Leu225=) c.1162C>T (p.Leu388=) c.759C>T (n.759C>T) c.508C>T (p.Leu170=) c.319+2267C>T | |
11 | g.71435545G>C | CA381701242 | DHCR7 | c.1258C>G (p.Leu420Val) c.1084C>G (p.Leu362Val) c.1309C>G (p.Leu437Val) c.1294C>G (p.Leu432Val) c.*21C>G (n.*21C>G) n.1298C>G c.673C>G (p.Leu225Val) c.1162C>G (p.Leu388Val) c.759C>G (n.759C>G) c.508C>G (p.Leu170Val) c.319+2267C>G | |
11 | g.71435545G>T | CA381701243 | DHCR7 | c.1258C>A (p.Leu420Met) c.1084C>A (p.Leu362Met) c.1309C>A (p.Leu437Met) c.1294C>A (p.Leu432Met) c.*21C>A (n.*21C>A) n.1298C>A c.673C>A (p.Leu225Met) c.1162C>A (p.Leu388Met) c.759C>A (n.759C>A) c.508C>A (p.Leu170Met) c.319+2267C>A | |
11 | g.71435546G>A | CA475860994 | DHCR7 | c.1257C>T (p.Cys419=) c.1083C>T (p.Cys361=) c.1308C>T (p.Cys436=) c.1293C>T (p.Cys431=) c.*20C>T (n.*20C>T) n.1297C>T c.672C>T (p.Cys224=) c.1161C>T (p.Cys387=) c.758C>T (n.758C>T) c.507C>T (p.Cys169=) c.319+2266C>T | |
11 | g.71435546G>C | CA381701245 | DHCR7 | c.1257C>G (p.Cys419Trp) c.1083C>G (p.Cys361Trp) c.1308C>G (p.Cys436Trp) c.1293C>G (p.Cys431Trp) c.*20C>G (n.*20C>G) n.1297C>G c.672C>G (p.Cys224Trp) c.1161C>G (p.Cys387Trp) c.758C>G (n.758C>G) c.507C>G (p.Cys169Trp) c.319+2266C>G | |
11 | g.71435546G>T | CA381701246 | DHCR7 | c.1257C>A (p.Cys419Ter) c.1083C>A (p.Cys361Ter) c.1308C>A (p.Cys436Ter) c.1293C>A (p.Cys431Ter) c.*20C>A (n.*20C>A) n.1297C>A c.672C>A (p.Cys224Ter) c.1161C>A (p.Cys387Ter) c.758C>A (n.758C>A) c.507C>A (p.Cys169Ter) c.319+2266C>A | |
11 | g.71435547C>A | CA381701249 | DHCR7 | c.1256G>T (p.Cys419Phe) c.1082G>T (p.Cys361Phe) c.1307G>T (p.Cys436Phe) c.1292G>T (p.Cys431Phe) c.*19G>T (n.*19G>T) n.1296G>T c.671G>T (p.Cys224Phe) c.1160G>T (p.Cys387Phe) c.757G>T (n.757G>T) c.506G>T (p.Cys169Phe) c.319+2265G>T | gnomAD v4 |
11 | g.71435547C= | CA1981486878 | DHCR7 | c.1256G= (p.Cys419=) c.1082G= (p.Cys361=) c.1307G= (p.Cys436=) c.1292G= (p.Cys431=) c.*19G= (n.*19G=) n.1296G= c.671G= (p.Cys224=) c.1160G= (p.Cys387=) c.757G= (n.757G=) c.506G= (p.Cys169=) c.319+2265G= | |
11 | g.71435547C>G | CA381701250 | DHCR7 | c.1256G>C (p.Cys419Ser) c.1082G>C (p.Cys361Ser) c.1307G>C (p.Cys436Ser) c.1292G>C (p.Cys431Ser) c.*19G>C (n.*19G>C) n.1296G>C c.671G>C (p.Cys224Ser) c.1160G>C (p.Cys387Ser) c.757G>C (n.757G>C) c.506G>C (p.Cys169Ser) c.319+2265G>C | |
11 | g.71435547C>T | CA381701252 | DHCR7 | c.1256G>A (p.Cys419Tyr) c.1082G>A (p.Cys361Tyr) c.1307G>A (p.Cys436Tyr) c.1292G>A (p.Cys431Tyr) c.*19G>A (n.*19G>A) n.1296G>A c.671G>A (p.Cys224Tyr) c.1160G>A (p.Cys387Tyr) c.757G>A (n.757G>A) c.506G>A (p.Cys169Tyr) c.319+2265G>A | dbSNP gnomAD v4 |
11 | g.71435548A= | CA1981486879 | DHCR7 | c.1255T= (p.Cys419=) c.1081T= (p.Cys361=) c.1306T= (p.Cys436=) c.1291T= (p.Cys431=) c.*18T= (n.*18T=) n.1295T= c.670T= (p.Cys224=) c.1159T= (p.Cys387=) c.756T= (n.756T=) c.505T= (p.Cys169=) c.319+2264T= | |
11 | g.71435548A>C | CA381701256 | DHCR7 | c.1255T>G (p.Cys419Gly) c.1081T>G (p.Cys361Gly) c.1306T>G (p.Cys436Gly) c.1291T>G (p.Cys431Gly) c.*18T>G (n.*18T>G) n.1295T>G c.670T>G (p.Cys224Gly) c.1159T>G (p.Cys387Gly) c.756T>G (n.756T>G) c.505T>G (p.Cys169Gly) c.319+2264T>G | |
11 | g.71435548A>G | CA381701255 | DHCR7 | c.1255T>C (p.Cys419Arg) c.1081T>C (p.Cys361Arg) c.1306T>C (p.Cys436Arg) c.1291T>C (p.Cys431Arg) c.*18T>C (n.*18T>C) n.1295T>C c.670T>C (p.Cys224Arg) c.1159T>C (p.Cys387Arg) c.756T>C (n.756T>C) c.505T>C (p.Cys169Arg) c.319+2264T>C | gnomAD v4 |
11 | g.71435548A>T | CA381701254 | DHCR7 | c.1255T>A (p.Cys419Ser) c.1081T>A (p.Cys361Ser) c.1306T>A (p.Cys436Ser) c.1291T>A (p.Cys431Ser) c.*18T>A (n.*18T>A) n.1295T>A c.670T>A (p.Cys224Ser) c.1159T>A (p.Cys387Ser) c.756T>A (n.756T>A) c.505T>A (p.Cys169Ser) c.319+2264T>A | dbSNP gnomAD v4 |
11 | g.71435549G>A | CA475860997 | DHCR7 | c.1254C>T (p.Tyr418=) c.1080C>T (p.Tyr360=) c.1305C>T (p.Tyr435=) c.1290C>T (p.Tyr430=) c.*17C>T (n.*17C>T) n.1294C>T c.669C>T (p.Tyr223=) c.1158C>T (p.Tyr386=) c.755C>T (n.755C>T) c.504C>T (p.Tyr168=) c.319+2263C>T | ClinVar dbSNP gnomAD v4 |
11 | g.71435549G>C | CA381701257 | DHCR7 | c.1254C>G (p.Tyr418Ter) c.1080C>G (p.Tyr360Ter) c.1305C>G (p.Tyr435Ter) c.1290C>G (p.Tyr430Ter) c.*17C>G (n.*17C>G) n.1294C>G c.669C>G (p.Tyr223Ter) c.1158C>G (p.Tyr386Ter) c.755C>G (n.755C>G) c.504C>G (p.Tyr168Ter) c.319+2263C>G | |
11 | g.71435549G= | CA1981486880 | DHCR7 | c.1254C= (p.Tyr418=) c.1080C= (p.Tyr360=) c.1305C= (p.Tyr435=) c.1290C= (p.Tyr430=) c.*17C= (n.*17C=) n.1294C= c.669C= (p.Tyr223=) c.1158C= (p.Tyr386=) c.755C= (n.755C=) c.504C= (p.Tyr168=) c.319+2263C= | |
11 | g.71435549G>T | CA381701259 | DHCR7 | c.1254C>A (p.Tyr418Ter) c.1080C>A (p.Tyr360Ter) c.1305C>A (p.Tyr435Ter) c.1290C>A (p.Tyr430Ter) c.*17C>A (n.*17C>A) n.1294C>A c.669C>A (p.Tyr223Ter) c.1158C>A (p.Tyr386Ter) c.755C>A (n.755C>A) c.504C>A (p.Tyr168Ter) c.319+2263C>A | |
11 | g.71435550T>A | CA381701261 | DHCR7 | c.1253A>T (p.Tyr418Phe) c.1079A>T (p.Tyr360Phe) c.1304A>T (p.Tyr435Phe) c.1289A>T (p.Tyr430Phe) c.*16A>T (n.*16A>T) n.1293A>T c.668A>T (p.Tyr223Phe) c.1157A>T (p.Tyr386Phe) c.754A>T (n.754A>T) c.503A>T (p.Tyr168Phe) c.319+2262A>T | |
11 | g.71435550T>C | CA224324092 | DHCR7 | c.1253A>G (p.Tyr418Cys) c.1079A>G (p.Tyr360Cys) c.1304A>G (p.Tyr435Cys) c.1289A>G (p.Tyr430Cys) c.*16A>G (n.*16A>G) n.1293A>G c.668A>G (p.Tyr223Cys) c.1157A>G (p.Tyr386Cys) c.754A>G (n.754A>G) c.503A>G (p.Tyr168Cys) c.319+2262A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435550T>G | CA381701265 | DHCR7 | c.1253A>C (p.Tyr418Ser) c.1079A>C (p.Tyr360Ser) c.1304A>C (p.Tyr435Ser) c.1289A>C (p.Tyr430Ser) c.*16A>C (n.*16A>C) n.1293A>C c.668A>C (p.Tyr223Ser) c.1157A>C (p.Tyr386Ser) c.754A>C (n.754A>C) c.503A>C (p.Tyr168Ser) c.319+2262A>C | |
11 | g.71435550T= | CA1981486881 | DHCR7 | c.1253A= (p.Tyr418=) c.1079A= (p.Tyr360=) c.1304A= (p.Tyr435=) c.1289A= (p.Tyr430=) c.*16A= (n.*16A=) n.1293A= c.668A= (p.Tyr223=) c.1157A= (p.Tyr386=) c.754A= (n.754A=) c.503A= (p.Tyr168=) c.319+2262A= | |
11 | g.71435551A>C | CA381701267 | DHCR7 | c.1252T>G (p.Tyr418Asp) c.1078T>G (p.Tyr360Asp) c.1303T>G (p.Tyr435Asp) c.1288T>G (p.Tyr430Asp) c.*15T>G (n.*15T>G) n.1292T>G c.667T>G (p.Tyr223Asp) c.1156T>G (p.Tyr386Asp) c.753T>G (n.753T>G) c.502T>G (p.Tyr168Asp) c.319+2261T>G | |
11 | g.71435551A>G | CA381701268 | DHCR7 | c.1252T>C (p.Tyr418His) c.1078T>C (p.Tyr360His) c.1303T>C (p.Tyr435His) c.1288T>C (p.Tyr430His) c.*15T>C (n.*15T>C) n.1292T>C c.667T>C (p.Tyr223His) c.1156T>C (p.Tyr386His) c.753T>C (n.753T>C) c.502T>C (p.Tyr168His) c.319+2261T>C | |
11 | g.71435551A>T | CA381701270 | DHCR7 | c.1252T>A (p.Tyr418Asn) c.1078T>A (p.Tyr360Asn) c.1303T>A (p.Tyr435Asn) c.1288T>A (p.Tyr430Asn) c.*15T>A (n.*15T>A) n.1292T>A c.667T>A (p.Tyr223Asn) c.1156T>A (p.Tyr386Asn) c.753T>A (n.753T>A) c.502T>A (p.Tyr168Asn) c.319+2261T>A | |
11 | g.71435552G>A | CA6162278 | DHCR7 | c.1251C>T (p.Ala417=) c.1077C>T (p.Ala359=) c.1302C>T (p.Ala434=) c.1287C>T (p.Ala429=) c.*14C>T (n.*14C>T) n.1291C>T c.666C>T (p.Ala222=) c.1155C>T (p.Ala385=) c.752C>T (n.752C>T) c.501C>T (p.Ala167=) c.319+2260C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435552G>C | CA475861001 | DHCR7 | c.1251C>G (p.Ala417=) c.1077C>G (p.Ala359=) c.1302C>G (p.Ala434=) c.1287C>G (p.Ala429=) c.*14C>G (n.*14C>G) n.1291C>G c.666C>G (p.Ala222=) c.1155C>G (p.Ala385=) c.752C>G (n.752C>G) c.501C>G (p.Ala167=) c.319+2260C>G | |
11 | g.71435552G= | CA1981486882 | DHCR7 | c.1251C= (p.Ala417=) c.1077C= (p.Ala359=) c.1302C= (p.Ala434=) c.1287C= (p.Ala429=) c.*14C= (n.*14C=) n.1291C= c.666C= (p.Ala222=) c.1155C= (p.Ala385=) c.752C= (n.752C=) c.501C= (p.Ala167=) c.319+2260C= | |
11 | g.71435552G>T | CA475861002 | DHCR7 | c.1251C>A (p.Ala417=) c.1077C>A (p.Ala359=) c.1302C>A (p.Ala434=) c.1287C>A (p.Ala429=) c.*14C>A (n.*14C>A) n.1291C>A c.666C>A (p.Ala222=) c.1155C>A (p.Ala385=) c.752C>A (n.752C>A) c.501C>A (p.Ala167=) c.319+2260C>A | gnomAD v4 |
11 | g.71435553G>A | CA224324098 | DHCR7 | c.1250C>T (p.Ala417Val) c.1076C>T (p.Ala359Val) c.1301C>T (p.Ala434Val) c.1286C>T (p.Ala429Val) c.*13C>T (n.*13C>T) n.1290C>T c.665C>T (p.Ala222Val) c.1154C>T (p.Ala385Val) c.751C>T (n.751C>T) c.500C>T (p.Ala167Val) c.319+2259C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435553G>C | CA381701273 | DHCR7 | c.1250C>G (p.Ala417Gly) c.1076C>G (p.Ala359Gly) c.1301C>G (p.Ala434Gly) c.1286C>G (p.Ala429Gly) c.*13C>G (n.*13C>G) n.1290C>G c.665C>G (p.Ala222Gly) c.1154C>G (p.Ala385Gly) c.751C>G (n.751C>G) c.500C>G (p.Ala167Gly) c.319+2259C>G | COSMIC COSMIC |
11 | g.71435553G= | CA1981486883 | DHCR7 | c.1250C= (p.Ala417=) c.1076C= (p.Ala359=) c.1301C= (p.Ala434=) c.1286C= (p.Ala429=) c.*13C= (n.*13C=) n.1290C= c.665C= (p.Ala222=) c.1154C= (p.Ala385=) c.751C= (n.751C=) c.500C= (p.Ala167=) c.319+2259C= | |
11 | g.71435553G>T | CA381701276 | DHCR7 | c.1250C>A (p.Ala417Asp) c.1076C>A (p.Ala359Asp) c.1301C>A (p.Ala434Asp) c.1286C>A (p.Ala429Asp) c.*13C>A (n.*13C>A) n.1290C>A c.665C>A (p.Ala222Asp) c.1154C>A (p.Ala385Asp) c.751C>A (n.751C>A) c.500C>A (p.Ala167Asp) c.319+2259C>A | gnomAD v4 |
11 | g.71435553_71435555dup | CA2614857184 | DHCR7 | c.1248_1250dup (p.Ala417_Tyr418insAla) c.1074_1076dup (p.Ala359_Tyr360insAla) c.1299_1301dup (p.Ala434_Tyr435insAla) c.1284_1286dup (p.Ala429_Tyr430insAla) c.*11_*13dup (n.*11_*13dup) n.1288_1290dup c.663_665dup (p.Ala222_Tyr223insAla) c.1152_1154dup (p.Ala385_Tyr386insAla) c.749_751dup (n.749_751dup) c.498_500dup (p.Ala167_Tyr168insAla) c.319+2257_319+2259dup | gnomAD v4 |
11 | g.71435554C>A | CA381701279 | DHCR7 | c.1249G>T (p.Ala417Ser) c.1075G>T (p.Ala359Ser) c.1300G>T (p.Ala434Ser) c.1285G>T (p.Ala429Ser) c.*12G>T (n.*12G>T) n.1289G>T c.664G>T (p.Ala222Ser) c.1153G>T (p.Ala385Ser) c.750G>T (n.750G>T) c.499G>T (p.Ala167Ser) c.319+2258G>T | gnomAD v4 |
11 | g.71435554C>G | CA381701281 | DHCR7 | c.1249G>C (p.Ala417Pro) c.1075G>C (p.Ala359Pro) c.1300G>C (p.Ala434Pro) c.1285G>C (p.Ala429Pro) c.*12G>C (n.*12G>C) n.1289G>C c.664G>C (p.Ala222Pro) c.1153G>C (p.Ala385Pro) c.750G>C (n.750G>C) c.499G>C (p.Ala167Pro) c.319+2258G>C | |
11 | g.71435554C>T | CA381701277 | DHCR7 | c.1249G>A (p.Ala417Thr) c.1075G>A (p.Ala359Thr) c.1300G>A (p.Ala434Thr) c.1285G>A (p.Ala429Thr) c.*12G>A (n.*12G>A) n.1289G>A c.664G>A (p.Ala222Thr) c.1153G>A (p.Ala385Thr) c.750G>A (n.750G>A) c.499G>A (p.Ala167Thr) c.319+2258G>A | |
11 | g.71435555C>A | CA475861006 | DHCR7 | c.1248G>T (p.Leu416=) c.1074G>T (p.Leu358=) c.1299G>T (p.Leu433=) c.1284G>T (p.Leu428=) c.*11G>T (n.*11G>T) n.1288G>T c.663G>T (p.Leu221=) c.1152G>T (p.Leu384=) c.749G>T (n.749G>T) c.498G>T (p.Leu166=) c.319+2257G>T | |
11 | g.71435555C>G | CA475861007 | DHCR7 | c.1248G>C (p.Leu416=) c.1074G>C (p.Leu358=) c.1299G>C (p.Leu433=) c.1284G>C (p.Leu428=) c.*11G>C (n.*11G>C) n.1288G>C c.663G>C (p.Leu221=) c.1152G>C (p.Leu384=) c.749G>C (n.749G>C) c.498G>C (p.Leu166=) c.319+2257G>C | |
11 | g.71435555C>T | CA475861008 | DHCR7 | c.1248G>A (p.Leu416=) c.1074G>A (p.Leu358=) c.1299G>A (p.Leu433=) c.1284G>A (p.Leu428=) c.*11G>A (n.*11G>A) n.1288G>A c.663G>A (p.Leu221=) c.1152G>A (p.Leu384=) c.749G>A (n.749G>A) c.498G>A (p.Leu166=) c.319+2257G>A | |
11 | g.71435556A>C | CA381701284 | DHCR7 | c.1247T>G (p.Leu416Arg) c.1073T>G (p.Leu358Arg) c.1298T>G (p.Leu433Arg) c.1283T>G (p.Leu428Arg) c.*10T>G (n.*10T>G) n.1287T>G c.662T>G (p.Leu221Arg) c.1151T>G (p.Leu384Arg) c.748T>G (n.748T>G) c.497T>G (p.Leu166Arg) c.319+2256T>G | |
11 | g.71435556A>G | CA381701285 | DHCR7 | c.1247T>C (p.Leu416Pro) c.1073T>C (p.Leu358Pro) c.1298T>C (p.Leu433Pro) c.1283T>C (p.Leu428Pro) c.*10T>C (n.*10T>C) n.1287T>C c.662T>C (p.Leu221Pro) c.1151T>C (p.Leu384Pro) c.748T>C (n.748T>C) c.497T>C (p.Leu166Pro) c.319+2256T>C | COSMIC COSMIC |
11 | g.71435556A>T | CA381701287 | DHCR7 | c.1247T>A (p.Leu416Gln) c.1073T>A (p.Leu358Gln) c.1298T>A (p.Leu433Gln) c.1283T>A (p.Leu428Gln) c.*10T>A (n.*10T>A) n.1287T>A c.662T>A (p.Leu221Gln) c.1151T>A (p.Leu384Gln) c.748T>A (n.748T>A) c.497T>A (p.Leu166Gln) c.319+2256T>A | |
11 | g.71435557G>A | CA475861009 | DHCR7 | c.1246C>T (p.Leu416=) c.1072C>T (p.Leu358=) c.1297C>T (p.Leu433=) c.1282C>T (p.Leu428=) c.*9C>T (n.*9C>T) n.1286C>T c.661C>T (p.Leu221=) c.1150C>T (p.Leu384=) c.747C>T (n.747C>T) c.496C>T (p.Leu166=) c.319+2255C>T | |
11 | g.71435557G>C | CA381701289 | DHCR7 | c.1246C>G (p.Leu416Val) c.1072C>G (p.Leu358Val) c.1297C>G (p.Leu433Val) c.1282C>G (p.Leu428Val) c.*9C>G (n.*9C>G) n.1286C>G c.661C>G (p.Leu221Val) c.1150C>G (p.Leu384Val) c.747C>G (n.747C>G) c.496C>G (p.Leu166Val) c.319+2255C>G | gnomAD v4 |
11 | g.71435557G>T | CA381701291 | DHCR7 | c.1246C>A (p.Leu416Met) c.1072C>A (p.Leu358Met) c.1297C>A (p.Leu433Met) c.1282C>A (p.Leu428Met) c.*9C>A (n.*9C>A) n.1286C>A c.661C>A (p.Leu221Met) c.1150C>A (p.Leu384Met) c.747C>A (n.747C>A) c.496C>A (p.Leu166Met) c.319+2255C>A | gnomAD v4 |
11 | g.71435558G>A | CA475861013 | DHCR7 | c.1245C>T (p.Ser415=) c.1071C>T (p.Ser357=) c.1296C>T (p.Ser432=) c.1281C>T (p.Ser427=) c.*8C>T (n.*8C>T) n.1285C>T c.660C>T (p.Ser220=) c.1149C>T (p.Ser383=) c.746C>T (n.746C>T) c.495C>T (p.Ser165=) c.319+2254C>T | |
11 | g.71435558G>C | CA381701295 | DHCR7 | c.1245C>G (p.Ser415Arg) c.1071C>G (p.Ser357Arg) c.1296C>G (p.Ser432Arg) c.1281C>G (p.Ser427Arg) c.*8C>G (n.*8C>G) n.1285C>G c.660C>G (p.Ser220Arg) c.1149C>G (p.Ser383Arg) c.746C>G (n.746C>G) c.495C>G (p.Ser165Arg) c.319+2254C>G | |
11 | g.71435558G>T | CA381701293 | DHCR7 | c.1245C>A (p.Ser415Arg) c.1071C>A (p.Ser357Arg) c.1296C>A (p.Ser432Arg) c.1281C>A (p.Ser427Arg) c.*8C>A (n.*8C>A) n.1285C>A c.660C>A (p.Ser220Arg) c.1149C>A (p.Ser383Arg) c.746C>A (n.746C>A) c.495C>A (p.Ser165Arg) c.319+2254C>A | gnomAD v4 |
11 | g.71435559C>A | CA381701297 | DHCR7 | c.1244G>T (p.Ser415Ile) c.1070G>T (p.Ser357Ile) c.1295G>T (p.Ser432Ile) c.1280G>T (p.Ser427Ile) c.*7G>T (n.*7G>T) n.1284G>T c.659G>T (p.Ser220Ile) c.1148G>T (p.Ser383Ile) c.745G>T (n.745G>T) c.494G>T (p.Ser165Ile) c.319+2253G>T | |
11 | g.71435559C>G | CA381701298 | DHCR7 | c.1244G>C (p.Ser415Thr) c.1070G>C (p.Ser357Thr) c.1295G>C (p.Ser432Thr) c.1280G>C (p.Ser427Thr) c.*7G>C (n.*7G>C) n.1284G>C c.659G>C (p.Ser220Thr) c.1148G>C (p.Ser383Thr) c.745G>C (n.745G>C) c.494G>C (p.Ser165Thr) c.319+2253G>C | |
11 | g.71435559C>T | CA381701300 | DHCR7 | c.1244G>A (p.Ser415Asn) c.1070G>A (p.Ser357Asn) c.1295G>A (p.Ser432Asn) c.1280G>A (p.Ser427Asn) c.*7G>A (n.*7G>A) n.1284G>A c.659G>A (p.Ser220Asn) c.1148G>A (p.Ser383Asn) c.745G>A (n.745G>A) c.494G>A (p.Ser165Asn) c.319+2253G>A | |
11 | g.71435560T>A | CA381701302 | DHCR7 | c.1243A>T (p.Ser415Cys) c.1069A>T (p.Ser357Cys) c.1294A>T (p.Ser432Cys) c.1279A>T (p.Ser427Cys) c.*6A>T (n.*6A>T) n.1283A>T c.658A>T (p.Ser220Cys) c.1147A>T (p.Ser383Cys) c.744A>T (n.744A>T) c.493A>T (p.Ser165Cys) c.319+2252A>T | |
11 | g.71435560T>C | CA6162279 | DHCR7 | c.1243A>G (p.Ser415Gly) c.1069A>G (p.Ser357Gly) c.1294A>G (p.Ser432Gly) c.1279A>G (p.Ser427Gly) c.*6A>G (n.*6A>G) n.1283A>G c.658A>G (p.Ser220Gly) c.1147A>G (p.Ser383Gly) c.744A>G (n.744A>G) c.493A>G (p.Ser165Gly) c.319+2252A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435560T>G | CA381701303 | DHCR7 | c.1243A>C (p.Ser415Arg) c.1069A>C (p.Ser357Arg) c.1294A>C (p.Ser432Arg) c.1279A>C (p.Ser427Arg) c.*6A>C (n.*6A>C) n.1283A>C c.658A>C (p.Ser220Arg) c.1147A>C (p.Ser383Arg) c.744A>C (n.744A>C) c.493A>C (p.Ser165Arg) c.319+2252A>C | |
11 | g.71435560T= | CA1981486884 | DHCR7 | c.1243A= (p.Ser415=) c.1069A= (p.Ser357=) c.1294A= (p.Ser432=) c.1279A= (p.Ser427=) c.*6A= (n.*6A=) n.1283A= c.658A= (p.Ser220=) c.1147A= (p.Ser383=) c.744A= (n.744A=) c.493A= (p.Ser165=) c.319+2252A= | |
11 | g.71435561G>A | CA475861018 | DHCR7 | c.1242C>T (p.Gly414=) c.1068C>T (p.Gly356=) c.1293C>T (p.Gly431=) c.1278C>T (p.Gly426=) c.*5C>T (n.*5C>T) n.1282C>T c.657C>T (p.Gly219=) c.1146C>T (p.Gly382=) c.743C>T (n.743C>T) c.492C>T (p.Gly164=) c.319+2251C>T | ClinVar dbSNP gnomAD v4 |
11 | g.71435561G>C | CA475861020 | DHCR7 | c.1242C>G (p.Gly414=) c.1068C>G (p.Gly356=) c.1293C>G (p.Gly431=) c.1278C>G (p.Gly426=) c.*5C>G (n.*5C>G) n.1282C>G c.657C>G (p.Gly219=) c.1146C>G (p.Gly382=) c.743C>G (n.743C>G) c.492C>G (p.Gly164=) c.319+2251C>G | |
11 | g.71435561G>T | CA475861019 | DHCR7 | c.1242C>A (p.Gly414=) c.1068C>A (p.Gly356=) c.1293C>A (p.Gly431=) c.1278C>A (p.Gly426=) c.*5C>A (n.*5C>A) n.1282C>A c.657C>A (p.Gly219=) c.1146C>A (p.Gly382=) c.743C>A (n.743C>A) c.492C>A (p.Gly164=) c.319+2251C>A | |
11 | g.71435562C>A | CA381701307 | DHCR7 | c.1241G>T (p.Gly414Val) c.1067G>T (p.Gly356Val) c.1292G>T (p.Gly431Val) c.1277G>T (p.Gly426Val) c.*4G>T (n.*4G>T) n.1281G>T c.656G>T (p.Gly219Val) c.1145G>T (p.Gly382Val) c.742G>T (n.742G>T) c.491G>T (p.Gly164Val) c.319+2250G>T | |
11 | g.71435562C>G | CA381701305 | DHCR7 | c.1241G>C (p.Gly414Ala) c.1067G>C (p.Gly356Ala) c.1292G>C (p.Gly431Ala) c.1277G>C (p.Gly426Ala) c.*4G>C (n.*4G>C) n.1281G>C c.656G>C (p.Gly219Ala) c.1145G>C (p.Gly382Ala) c.742G>C (n.742G>C) c.491G>C (p.Gly164Ala) c.319+2250G>C | |
11 | g.71435562C>T | CA381701304 | DHCR7 | c.1241G>A (p.Gly414Asp) c.1067G>A (p.Gly356Asp) c.1292G>A (p.Gly431Asp) c.1277G>A (p.Gly426Asp) c.*4G>A (n.*4G>A) n.1281G>A c.656G>A (p.Gly219Asp) c.1145G>A (p.Gly382Asp) c.742G>A (n.742G>A) c.491G>A (p.Gly164Asp) c.319+2250G>A | gnomAD v4 |
11 | g.71435563C>A | CA381701308 | DHCR7 | c.1240G>T (p.Gly414Cys) c.1066G>T (p.Gly356Cys) c.1291G>T (p.Gly431Cys) c.1276G>T (p.Gly426Cys) c.*3G>T (n.*3G>T) n.1280G>T c.655G>T (p.Gly219Cys) c.1144G>T (p.Gly382Cys) c.741G>T (n.741G>T) c.490G>T (p.Gly164Cys) c.319+2249G>T | gnomAD v4 |
11 | g.71435563C= | CA1981486885 | DHCR7 | c.1240G= (p.Gly414=) c.1066G= (p.Gly356=) c.1291G= (p.Gly431=) c.1276G= (p.Gly426=) c.*3G= (n.*3G=) n.1280G= c.655G= (p.Gly219=) c.1144G= (p.Gly382=) c.741G= (n.741G=) c.490G= (p.Gly164=) c.319+2249G= | |
11 | g.71435563C>G | CA6162280 | DHCR7 | c.1240G>C (p.Gly414Arg) c.1066G>C (p.Gly356Arg) c.1291G>C (p.Gly431Arg) c.1276G>C (p.Gly426Arg) c.*3G>C (n.*3G>C) n.1280G>C c.655G>C (p.Gly219Arg) c.1144G>C (p.Gly382Arg) c.741G>C (n.741G>C) c.490G>C (p.Gly164Arg) c.319+2249G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435563C>T | CA381701310 | DHCR7 | c.1240G>A (p.Gly414Ser) c.1066G>A (p.Gly356Ser) c.1291G>A (p.Gly431Ser) c.1276G>A (p.Gly426Ser) c.*3G>A (n.*3G>A) n.1280G>A c.655G>A (p.Gly219Ser) c.1144G>A (p.Gly382Ser) c.741G>A (n.741G>A) c.490G>A (p.Gly164Ser) c.319+2249G>A | |
11 | g.71435564C>A | CA381701313 | DHCR7 | c.1239G>T (p.Met413Ile) c.1065G>T (p.Met355Ile) c.1290G>T (p.Met430Ile) c.1275G>T (p.Met425Ile) c.*2G>T (n.*2G>T) n.1279G>T c.654G>T (p.Met218Ile) c.1143G>T (p.Met381Ile) c.740G>T (n.740G>T) c.489G>T (p.Met163Ile) c.319+2248G>T | gnomAD v4 |
11 | g.71435564C>G | CA381701317 | DHCR7 | c.1239G>C (p.Met413Ile) c.1065G>C (p.Met355Ile) c.1290G>C (p.Met430Ile) c.1275G>C (p.Met425Ile) c.*2G>C (n.*2G>C) n.1279G>C c.654G>C (p.Met218Ile) c.1143G>C (p.Met381Ile) c.740G>C (n.740G>C) c.489G>C (p.Met163Ile) c.319+2248G>C | |
11 | g.71435564C>T | CA381701315 | DHCR7 | c.1239G>A (p.Met413Ile) c.1065G>A (p.Met355Ile) c.1290G>A (p.Met430Ile) c.1275G>A (p.Met425Ile) c.*2G>A (n.*2G>A) n.1279G>A c.654G>A (p.Met218Ile) c.1143G>A (p.Met381Ile) c.740G>A (n.740G>A) c.489G>A (p.Met163Ile) c.319+2248G>A | |
11 | g.71435565A>C | CA381701319 | DHCR7 | c.1238T>G (p.Met413Arg) c.1064T>G (p.Met355Arg) c.1289T>G (p.Met430Arg) c.1274T>G (p.Met425Arg) c.*1T>G (n.*1T>G) n.1278T>G c.653T>G (p.Met218Arg) c.1142T>G (p.Met381Arg) c.739T>G (n.739T>G) c.488T>G (p.Met163Arg) c.319+2247T>G | |
11 | g.71435565A>G | CA381701320 | DHCR7 | c.1238T>C (p.Met413Thr) c.1064T>C (p.Met355Thr) c.1289T>C (p.Met430Thr) c.1274T>C (p.Met425Thr) c.*1T>C (n.*1T>C) n.1278T>C c.653T>C (p.Met218Thr) c.1142T>C (p.Met381Thr) c.739T>C (n.739T>C) c.488T>C (p.Met163Thr) c.319+2247T>C | |
11 | g.71435565A>T | CA381701322 | DHCR7 | c.1238T>A (p.Met413Lys) c.1064T>A (p.Met355Lys) c.1289T>A (p.Met430Lys) c.1274T>A (p.Met425Lys) c.*1T>A (n.*1T>A) n.1278T>A c.653T>A (p.Met218Lys) c.1142T>A (p.Met381Lys) c.739T>A (n.739T>A) c.488T>A (p.Met163Lys) c.319+2247T>A | |
11 | g.71435566T>A | CA381701324 | DHCR7 | c.1237A>T (p.Met413Leu) c.1063A>T (p.Met355Leu) c.1288A>T (p.Met430Leu) c.1273A>T (p.Met425Leu) c.1245A>T (p.Ter415Cys) n.1277A>T c.652A>T (p.Met218Leu) c.1141A>T (p.Met381Leu) c.738A>T (p.Ter246Cys) c.487A>T (p.Met163Leu) c.319+2246A>T c.1371A>T (p.Ter457Cys) | |
11 | g.71435566T>C | CA381701326 | DHCR7 | c.1237A>G (p.Met413Val) c.1063A>G (p.Met355Val) c.1288A>G (p.Met430Val) c.1273A>G (p.Met425Val) c.1245A>G (p.Ter415Trp) n.1277A>G c.652A>G (p.Met218Val) c.1141A>G (p.Met381Val) c.738A>G (p.Ter246Trp) c.487A>G (p.Met163Val) c.319+2246A>G c.1371A>G (p.Ter457Trp) | |
11 | g.71435566T>G | CA381701328 | DHCR7 | c.1237A>C (p.Met413Leu) c.1063A>C (p.Met355Leu) c.1288A>C (p.Met430Leu) c.1273A>C (p.Met425Leu) c.1245A>C (p.Ter415Cys) n.1277A>C c.652A>C (p.Met218Leu) c.1141A>C (p.Met381Leu) c.738A>C (p.Ter246Cys) c.487A>C (p.Met163Leu) c.319+2246A>C c.1371A>C (p.Ter457Cys) | |
11 | g.71435567C>A | CA381701329 | DHCR7 | c.1236G>T (p.Leu412=) c.1062G>T (p.Leu354=) c.1287G>T (p.Leu429=) c.1272G>T (p.Leu424=) c.1244G>T (p.Ter415Leu) n.1276G>T c.651G>T (p.Leu217=) c.1140G>T (p.Leu380=) c.737G>T (p.Ter246Leu) c.486G>T (p.Leu162=) c.319+2245G>T c.1370G>T (p.Ter457Leu) | |
11 | g.71435567C>G | CA381701331 | DHCR7 | c.1236G>C (p.Leu412=) c.1062G>C (p.Leu354=) c.1287G>C (p.Leu429=) c.1272G>C (p.Leu424=) c.1244G>C (p.Ter415Ser) n.1276G>C c.651G>C (p.Leu217=) c.1140G>C (p.Leu380=) c.737G>C (p.Ter246Ser) c.486G>C (p.Leu162=) c.319+2245G>C c.1370G>C (p.Ter457Ser) | ClinVar |
11 | g.71435567C>T | CA475861026 | DHCR7 | c.1236G>A (p.Leu412=) c.1062G>A (p.Leu354=) c.1287G>A (p.Leu429=) c.1272G>A (p.Leu424=) c.1244G>A (p.Ter415=) n.1276G>A c.651G>A (p.Leu217=) c.1140G>A (p.Leu380=) c.737G>A (p.Ter246=) c.486G>A (p.Leu162=) c.319+2245G>A c.1370G>A (p.Ter457=) | |
11 | g.71435568A>C | CA381701334 | DHCR7 | c.1235T>G (p.Leu412Arg) c.1061T>G (p.Leu354Arg) c.1286T>G (p.Leu429Arg) c.1271T>G (p.Leu424Arg) c.1243T>G (p.Ter415Gly) n.1275T>G c.650T>G (p.Leu217Arg) c.1139T>G (p.Leu380Arg) c.736T>G (p.Ter246Gly) c.485T>G (p.Leu162Arg) c.319+2244T>G c.1369T>G (p.Ter457Gly) | |
11 | g.71435568A>G | CA381701335 | DHCR7 | c.1235T>C (p.Leu412Pro) c.1061T>C (p.Leu354Pro) c.1286T>C (p.Leu429Pro) c.1271T>C (p.Leu424Pro) c.1243T>C (p.Ter415Arg) n.1275T>C c.650T>C (p.Leu217Pro) c.1139T>C (p.Leu380Pro) c.736T>C (p.Ter246Arg) c.485T>C (p.Leu162Pro) c.319+2244T>C c.1369T>C (p.Ter457Arg) | |
11 | g.71435568A>T | CA381701336 | DHCR7 | c.1235T>A (p.Leu412Gln) c.1061T>A (p.Leu354Gln) c.1286T>A (p.Leu429Gln) c.1271T>A (p.Leu424Gln) c.1243T>A (p.Ter415Arg) n.1275T>A c.650T>A (p.Leu217Gln) c.1139T>A (p.Leu380Gln) c.736T>A (p.Ter246Arg) c.485T>A (p.Leu162Gln) c.319+2244T>A c.1369T>A (p.Ter457Arg) | |
11 | g.71435569G>A | CA475861030 | DHCR7 | c.1234C>T (p.Leu412=) c.1060C>T (p.Leu354=) c.1285C>T (p.Leu429=) c.1270C>T (p.Leu424=) c.1242C>T (p.Thr414=) n.1274C>T c.649C>T (p.Leu217=) c.1138C>T (p.Leu380=) c.735C>T (p.Thr245=) c.484C>T (p.Leu162=) c.319+2243C>T c.1368C>T (p.Thr456=) | ClinVar dbSNP gnomAD v4 |
11 | g.71435569G>C | CA381701338 | DHCR7 | c.1234C>G (p.Leu412Val) c.1060C>G (p.Leu354Val) c.1285C>G (p.Leu429Val) c.1270C>G (p.Leu424Val) c.1242C>G (p.Thr414=) n.1274C>G c.649C>G (p.Leu217Val) c.1138C>G (p.Leu380Val) c.735C>G (p.Thr245=) c.484C>G (p.Leu162Val) c.319+2243C>G c.1368C>G (p.Thr456=) | |
11 | g.71435569G= | CA1981486886 | DHCR7 | c.1234C= (p.Leu412=) c.1060C= (p.Leu354=) c.1285C= (p.Leu429=) c.1270C= (p.Leu424=) c.1242C= (p.Thr414=) n.1274C= c.649C= (p.Leu217=) c.1138C= (p.Leu380=) c.735C= (p.Thr245=) c.484C= (p.Leu162=) c.319+2243C= c.1368C= (p.Thr456=) | |
11 | g.71435569G>T | CA381701340 | DHCR7 | c.1234C>A (p.Leu412Met) c.1060C>A (p.Leu354Met) c.1285C>A (p.Leu429Met) c.1270C>A (p.Leu424Met) c.1242C>A (p.Thr414=) n.1274C>A c.649C>A (p.Leu217Met) c.1138C>A (p.Leu380Met) c.735C>A (p.Thr245=) c.484C>A (p.Leu162Met) c.319+2243C>A c.1368C>A (p.Thr456=) | |
11 | g.71435570G>A | CA381701341 | DHCR7 | c.1233C>T (p.Asp411=) c.1059C>T (p.Asp353=) c.1284C>T (p.Asp428=) c.1269C>T (p.Asp423=) c.1241C>T (p.Thr414Ile) n.1273C>T c.648C>T (p.Asp216=) c.1137C>T (p.Asp379=) c.734C>T (p.Thr245Ile) c.483C>T (p.Asp161=) c.319+2242C>T c.1367C>T (p.Thr456Ile) | |
11 | g.71435570G>C | CA381701344 | DHCR7 | c.1233C>G (p.Asp411Glu) c.1059C>G (p.Asp353Glu) c.1284C>G (p.Asp428Glu) c.1269C>G (p.Asp423Glu) c.1241C>G (p.Thr414Ser) n.1273C>G c.648C>G (p.Asp216Glu) c.1137C>G (p.Asp379Glu) c.734C>G (p.Thr245Ser) c.483C>G (p.Asp161Glu) c.319+2242C>G c.1367C>G (p.Thr456Ser) | |
11 | g.71435570G>T | CA381701342 | DHCR7 | c.1233C>A (p.Asp411Glu) c.1059C>A (p.Asp353Glu) c.1284C>A (p.Asp428Glu) c.1269C>A (p.Asp423Glu) c.1241C>A (p.Thr414Asn) n.1273C>A c.648C>A (p.Asp216Glu) c.1137C>A (p.Asp379Glu) c.734C>A (p.Thr245Asn) c.483C>A (p.Asp161Glu) c.319+2242C>A c.1367C>A (p.Thr456Asn) | gnomAD v4 |
11 | g.71435571T>A | CA381701347 | DHCR7 | c.1232A>T (p.Asp411Val) c.1058A>T (p.Asp353Val) c.1283A>T (p.Asp428Val) c.1268A>T (p.Asp423Val) c.1240A>T (p.Thr414Ser) n.1272A>T c.647A>T (p.Asp216Val) c.1136A>T (p.Asp379Val) c.733A>T (p.Thr245Ser) c.482A>T (p.Asp161Val) c.319+2241A>T c.1366A>T (p.Thr456Ser) | |
11 | g.71435571T>C | CA381701349 | DHCR7 | c.1232A>G (p.Asp411Gly) c.1058A>G (p.Asp353Gly) c.1283A>G (p.Asp428Gly) c.1268A>G (p.Asp423Gly) c.1240A>G (p.Thr414Ala) n.1272A>G c.647A>G (p.Asp216Gly) c.1136A>G (p.Asp379Gly) c.733A>G (p.Thr245Ala) c.482A>G (p.Asp161Gly) c.319+2241A>G c.1366A>G (p.Thr456Ala) | |
11 | g.71435571T>G | CA381701351 | DHCR7 | c.1232A>C (p.Asp411Ala) c.1058A>C (p.Asp353Ala) c.1283A>C (p.Asp428Ala) c.1268A>C (p.Asp423Ala) c.1240A>C (p.Thr414Pro) n.1272A>C c.647A>C (p.Asp216Ala) c.1136A>C (p.Asp379Ala) c.733A>C (p.Thr245Pro) c.482A>C (p.Asp161Ala) c.319+2241A>C c.1366A>C (p.Thr456Pro) | |
11 | g.71435572C>A | CA381701353 | DHCR7 | c.1231G>T (p.Asp411Tyr) c.1057G>T (p.Asp353Tyr) c.1282G>T (p.Asp428Tyr) c.1267G>T (p.Asp423Tyr) c.1239G>T (p.Ala413=) n.1271G>T c.646G>T (p.Asp216Tyr) c.1135G>T (p.Asp379Tyr) c.732G>T (p.Ala244=) c.481G>T (p.Asp161Tyr) c.319+2240G>T c.1365G>T (p.Ala455=) | |
11 | g.71435572C= | CA1981486887 | DHCR7 | c.1231G= (p.Asp411=) c.1057G= (p.Asp353=) c.1282G= (p.Asp428=) c.1267G= (p.Asp423=) c.1239G= (p.Ala413=) n.1271G= c.646G= (p.Asp216=) c.1135G= (p.Asp379=) c.732G= (p.Ala244=) c.481G= (p.Asp161=) c.319+2240G= c.1365G= (p.Ala455=) | |
11 | g.71435572C>G | CA381701355 | DHCR7 | c.1231G>C (p.Asp411His) c.1057G>C (p.Asp353His) c.1282G>C (p.Asp428His) c.1267G>C (p.Asp423His) c.1239G>C (p.Ala413=) n.1271G>C c.646G>C (p.Asp216His) c.1135G>C (p.Asp379His) c.732G>C (p.Ala244=) c.481G>C (p.Asp161His) c.319+2240G>C c.1365G>C (p.Ala455=) | |
11 | g.71435572C>T | CA6162281 | DHCR7 | c.1231G>A (p.Asp411Asn) c.1057G>A (p.Asp353Asn) c.1282G>A (p.Asp428Asn) c.1267G>A (p.Asp423Asn) c.1239G>A (p.Ala413=) n.1271G>A c.646G>A (p.Asp216Asn) c.1135G>A (p.Asp379Asn) c.732G>A (p.Ala244=) c.481G>A (p.Asp161Asn) c.319+2240G>A c.1365G>A (p.Ala455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435573G>A | CA381701357 | DHCR7 | c.1230C>T (p.Gly410=) c.1056C>T (p.Gly352=) c.1281C>T (p.Gly427=) c.1266C>T (p.Gly422=) c.1238C>T (p.Ala413Val) n.1270C>T c.645C>T (p.Gly215=) c.1134C>T (p.Gly378=) c.731C>T (p.Ala244Val) c.480C>T (p.Gly160=) c.319+2239C>T c.1364C>T (p.Ala455Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435573G>C | CA381701359 | DHCR7 | c.1230C>G (p.Gly410=) c.1056C>G (p.Gly352=) c.1281C>G (p.Gly427=) c.1266C>G (p.Gly422=) c.1238C>G (p.Ala413Gly) n.1270C>G c.645C>G (p.Gly215=) c.1134C>G (p.Gly378=) c.731C>G (p.Ala244Gly) c.480C>G (p.Gly160=) c.319+2239C>G c.1364C>G (p.Ala455Gly) | gnomAD v4 |
11 | g.71435573G= | CA1981486888 | DHCR7 | c.1230C= (p.Gly410=) c.1056C= (p.Gly352=) c.1281C= (p.Gly427=) c.1266C= (p.Gly422=) c.1238C= (p.Ala413=) n.1270C= c.645C= (p.Gly215=) c.1134C= (p.Gly378=) c.731C= (p.Ala244=) c.480C= (p.Gly160=) c.319+2239C= c.1364C= (p.Ala455=) | |
11 | g.71435573G>T | CA381701361 | DHCR7 | c.1230C>A (p.Gly410=) c.1056C>A (p.Gly352=) c.1281C>A (p.Gly427=) c.1266C>A (p.Gly422=) c.1238C>A (p.Ala413Glu) n.1270C>A c.645C>A (p.Gly215=) c.1134C>A (p.Gly378=) c.731C>A (p.Ala244Glu) c.480C>A (p.Gly160=) c.319+2239C>A c.1364C>A (p.Ala455Glu) | |
11 | g.71435574C>A | CA381701367 | DHCR7 | c.1229G>T (p.Gly410Val) c.1055G>T (p.Gly352Val) c.1280G>T (p.Gly427Val) c.1265G>T (p.Gly422Val) c.1237G>T (p.Ala413Ser) n.1269G>T c.644G>T (p.Gly215Val) c.1133G>T (p.Gly378Val) c.730G>T (p.Ala244Ser) c.479G>T (p.Gly160Val) c.319+2238G>T c.1363G>T (p.Ala455Ser) | |
11 | g.71435574C>G | CA381701365 | DHCR7 | c.1229G>C (p.Gly410Ala) c.1055G>C (p.Gly352Ala) c.1280G>C (p.Gly427Ala) c.1265G>C (p.Gly422Ala) c.1237G>C (p.Ala413Pro) n.1269G>C c.644G>C (p.Gly215Ala) c.1133G>C (p.Gly378Ala) c.730G>C (p.Ala244Pro) c.479G>C (p.Gly160Ala) c.319+2238G>C c.1363G>C (p.Ala455Pro) | |
11 | g.71435574C>T | CA381701363 | DHCR7 | c.1229G>A (p.Gly410Asp) c.1055G>A (p.Gly352Asp) c.1280G>A (p.Gly427Asp) c.1265G>A (p.Gly422Asp) c.1237G>A (p.Ala413Thr) n.1269G>A c.644G>A (p.Gly215Asp) c.1133G>A (p.Gly378Asp) c.730G>A (p.Ala244Thr) c.479G>A (p.Gly160Asp) c.319+2238G>A c.1363G>A (p.Ala455Thr) | |
11 | g.71435575C>A | CA381701369 | DHCR7 | c.1228G>T (p.Gly410Cys) c.1054G>T (p.Gly352Cys) c.1279G>T (p.Gly427Cys) c.1264G>T (p.Gly422Cys) c.1236G>T (p.Ser412=) n.1268G>T c.643G>T (p.Gly215Cys) c.1132G>T (p.Gly378Cys) c.729G>T (p.Ser243=) c.478G>T (p.Gly160Cys) c.319+2237G>T c.1362G>T (p.Ser454=) | |
11 | g.71435575C= | CA1981486889 | DHCR7 | c.1228G= (p.Gly410=) c.1054G= (p.Gly352=) c.1279G= (p.Gly427=) c.1264G= (p.Gly422=) c.1236G= (p.Ser412=) n.1268G= c.643G= (p.Gly215=) c.1132G= (p.Gly378=) c.729G= (p.Ser243=) c.478G= (p.Gly160=) c.319+2237G= c.1362G= (p.Ser454=) | |
11 | g.71435575C>G | CA381701371 | DHCR7 | c.1228G>C (p.Gly410Arg) c.1054G>C (p.Gly352Arg) c.1279G>C (p.Gly427Arg) c.1264G>C (p.Gly422Arg) c.1236G>C (p.Ser412=) n.1268G>C c.643G>C (p.Gly215Arg) c.1132G>C (p.Gly378Arg) c.729G>C (p.Ser243=) c.478G>C (p.Gly160Arg) c.319+2237G>C c.1362G>C (p.Ser454=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435575C>T | CA221650 | DHCR7 | c.1228G>A (p.Gly410Ser) c.1054G>A (p.Gly352Ser) c.1279G>A (p.Gly427Ser) c.1264G>A (p.Gly422Ser) c.1236G>A (p.Ser412=) n.1268G>A c.643G>A (p.Gly215Ser) c.1132G>A (p.Gly378Ser) c.729G>A (p.Ser243=) c.478G>A (p.Gly160Ser) c.319+2237G>A c.1362G>A (p.Ser454=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435576G>A | CA224324140 | DHCR7 | c.1227C>T (p.Val409=) c.1053C>T (p.Val351=) c.1278C>T (p.Val426=) c.1263C>T (p.Val421=) c.1235C>T (p.Ser412Leu) n.1267C>T c.642C>T (p.Val214=) c.1131C>T (p.Val377=) c.728C>T (p.Ser243Leu) c.477C>T (p.Val159=) c.319+2236C>T c.1361C>T (p.Ser454Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435576G>C | CA381701375 | DHCR7 | c.1227C>G (p.Val409=) c.1053C>G (p.Val351=) c.1278C>G (p.Val426=) c.1263C>G (p.Val421=) c.1235C>G (p.Ser412Trp) n.1267C>G c.642C>G (p.Val214=) c.1131C>G (p.Val377=) c.728C>G (p.Ser243Trp) c.477C>G (p.Val159=) c.319+2236C>G c.1361C>G (p.Ser454Trp) | gnomAD v4 |
11 | g.71435576G= | CA1981486890 | DHCR7 | c.1227C= (p.Val409=) c.1053C= (p.Val351=) c.1278C= (p.Val426=) c.1263C= (p.Val421=) c.1235C= (p.Ser412=) n.1267C= c.642C= (p.Val214=) c.1131C= (p.Val377=) c.728C= (p.Ser243=) c.477C= (p.Val159=) c.319+2236C= c.1361C= (p.Ser454=) | |
11 | g.71435576G>T | CA381701377 | DHCR7 | c.1227C>A (p.Val409=) c.1053C>A (p.Val351=) c.1278C>A (p.Val426=) c.1263C>A (p.Val421=) c.1235C>A (p.Ser412Ter) n.1267C>A c.642C>A (p.Val214=) c.1131C>A (p.Val377=) c.728C>A (p.Ser243Ter) c.477C>A (p.Val159=) c.319+2236C>A c.1361C>A (p.Ser454Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435576_71435577del | CA2846734038 | DHCR7 | c.1226_1227del (p.Val409GlyfsTer?) c.1052_1053del (p.Val351GlyfsTer?) c.1277_1278del (p.Val426GlyfsTer?) c.1262_1263del (p.Val421GlyfsTer?) c.1234_1235del (p.Ser412GlyfsTer?) n.1266_1267del c.641_642del (p.Val214GlyfsTer?) c.1130_1131del (p.Val377GlyfsTer?) c.727_728del (p.Ser243GlyfsTer?) c.476_477del (p.Val159GlyfsTer?) c.319+2235_319+2236del c.1360_1361del (p.Ser454GlyfsTer?) | |
11 | g.71435577A>C | CA381701379 | DHCR7 | c.1226T>G (p.Val409Gly) c.1052T>G (p.Val351Gly) c.1277T>G (p.Val426Gly) c.1262T>G (p.Val421Gly) c.1234T>G (p.Ser412Ala) n.1266T>G c.641T>G (p.Val214Gly) c.1130T>G (p.Val377Gly) c.727T>G (p.Ser243Ala) c.476T>G (p.Val159Gly) c.319+2235T>G c.1360T>G (p.Ser454Ala) | |
11 | g.71435577A>G | CA381701381 | DHCR7 | c.1226T>C (p.Val409Ala) c.1052T>C (p.Val351Ala) c.1277T>C (p.Val426Ala) c.1262T>C (p.Val421Ala) c.1234T>C (p.Ser412Pro) n.1266T>C c.641T>C (p.Val214Ala) c.1130T>C (p.Val377Ala) c.727T>C (p.Ser243Pro) c.476T>C (p.Val159Ala) c.319+2235T>C c.1360T>C (p.Ser454Pro) | gnomAD v4 |
11 | g.71435577A>T | CA381701383 | DHCR7 | c.1226T>A (p.Val409Asp) c.1052T>A (p.Val351Asp) c.1277T>A (p.Val426Asp) c.1262T>A (p.Val421Asp) c.1234T>A (p.Ser412Thr) n.1266T>A c.641T>A (p.Val214Asp) c.1130T>A (p.Val377Asp) c.727T>A (p.Ser243Thr) c.476T>A (p.Val159Asp) c.319+2235T>A c.1360T>A (p.Ser454Thr) | |
11 | g.71435578C>A | CA381701385 | DHCR7 | c.1225G>T (p.Val409Phe) c.1051G>T (p.Val351Phe) c.1276G>T (p.Val426Phe) c.1261G>T (p.Val421Phe) c.1233G>T (p.Thr411=) n.1265G>T c.640G>T (p.Val214Phe) c.1129G>T (p.Val377Phe) c.726G>T (p.Thr242=) c.475G>T (p.Val159Phe) c.319+2234G>T c.1359G>T (p.Thr453=) | |
11 | g.71435578C= | CA1981486891 | DHCR7 | c.1225G= (p.Val409=) c.1051G= (p.Val351=) c.1276G= (p.Val426=) c.1261G= (p.Val421=) c.1233G= (p.Thr411=) n.1265G= c.640G= (p.Val214=) c.1129G= (p.Val377=) c.726G= (p.Thr242=) c.475G= (p.Val159=) c.319+2234G= c.1359G= (p.Thr453=) | |
11 | g.71435578C>G | CA381701387 | DHCR7 | c.1225G>C (p.Val409Leu) c.1051G>C (p.Val351Leu) c.1276G>C (p.Val426Leu) c.1261G>C (p.Val421Leu) c.1233G>C (p.Thr411=) n.1265G>C c.640G>C (p.Val214Leu) c.1129G>C (p.Val377Leu) c.726G>C (p.Thr242=) c.475G>C (p.Val159Leu) c.319+2234G>C c.1359G>C (p.Thr453=) | |
11 | g.71435578C>T | CA6162282 | DHCR7 | c.1225G>A (p.Val409Ile) c.1051G>A (p.Val351Ile) c.1276G>A (p.Val426Ile) c.1261G>A (p.Val421Ile) c.1233G>A (p.Thr411=) n.1265G>A c.640G>A (p.Val214Ile) c.1129G>A (p.Val377Ile) c.726G>A (p.Thr242=) c.475G>A (p.Val159Ile) c.319+2234G>A c.1359G>A (p.Thr453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435579G>A | CA6162283 | DHCR7 | c.1224C>T (p.Tyr408=) c.1050C>T (p.Tyr350=) c.1275C>T (p.Tyr425=) c.1260C>T (p.Tyr420=) c.1232C>T (p.Thr411Met) n.1264C>T c.639C>T (p.Tyr213=) c.1128C>T (p.Tyr376=) c.725C>T (p.Thr242Met) c.474C>T (p.Tyr158=) c.319+2233C>T c.1358C>T (p.Thr453Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435579G>C | CA381701393 | DHCR7 | c.1224C>G (p.Tyr408Ter) c.1050C>G (p.Tyr350Ter) c.1275C>G (p.Tyr425Ter) c.1260C>G (p.Tyr420Ter) c.1232C>G (p.Thr411Arg) n.1264C>G c.639C>G (p.Tyr213Ter) c.1128C>G (p.Tyr376Ter) c.725C>G (p.Thr242Arg) c.474C>G (p.Tyr158Ter) c.319+2233C>G c.1358C>G (p.Thr453Arg) | ClinVar gnomAD v4 |
11 | g.71435579G= | CA1981486892 | DHCR7 | c.1224C= (p.Tyr408=) c.1050C= (p.Tyr350=) c.1275C= (p.Tyr425=) c.1260C= (p.Tyr420=) c.1232C= (p.Thr411=) n.1264C= c.639C= (p.Tyr213=) c.1128C= (p.Tyr376=) c.725C= (p.Thr242=) c.474C= (p.Tyr158=) c.319+2233C= c.1358C= (p.Thr453=) | |
11 | g.71435579G>T | CA381701391 | DHCR7 | c.1224C>A (p.Tyr408Ter) c.1050C>A (p.Tyr350Ter) c.1275C>A (p.Tyr425Ter) c.1260C>A (p.Tyr420Ter) c.1232C>A (p.Thr411Lys) n.1264C>A c.639C>A (p.Tyr213Ter) c.1128C>A (p.Tyr376Ter) c.725C>A (p.Thr242Lys) c.474C>A (p.Tyr158Ter) c.319+2233C>A c.1358C>A (p.Thr453Lys) | |
11 | g.71435579_71435580dup | CA2846734039 | DHCR7 | c.1223_1224dup (p.Val409ThrfsTer5) c.1049_1050dup (p.Val351ThrfsTer5) c.1274_1275dup (p.Val426ThrfsTer5) c.1259_1260dup (p.Val421ThrfsTer5) c.1231_1232dup (p.Ser412ArgfsTer?) n.1263_1264dup c.638_639dup (p.Val214ThrfsTer5) c.1127_1128dup (p.Val377ThrfsTer5) c.724_725dup (p.Ser243ArgfsTer?) c.473_474dup (p.Val159ThrfsTer5) c.319+2232_319+2233dup c.1357_1358dup (p.Ser454ArgfsTer?) | |
11 | g.71435580T>A | CA381701397 | DHCR7 | c.1223A>T (p.Tyr408Phe) c.1049A>T (p.Tyr350Phe) c.1274A>T (p.Tyr425Phe) c.1259A>T (p.Tyr420Phe) c.1231A>T (p.Thr411Ser) n.1263A>T c.638A>T (p.Tyr213Phe) c.1127A>T (p.Tyr376Phe) c.724A>T (p.Thr242Ser) c.473A>T (p.Tyr158Phe) c.319+2232A>T c.1357A>T (p.Thr453Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.71435580T>C | CA381701398 | DHCR7 | c.1223A>G (p.Tyr408Cys) c.1049A>G (p.Tyr350Cys) c.1274A>G (p.Tyr425Cys) c.1259A>G (p.Tyr420Cys) c.1231A>G (p.Thr411Ala) n.1263A>G c.638A>G (p.Tyr213Cys) c.1127A>G (p.Tyr376Cys) c.724A>G (p.Thr242Ala) c.473A>G (p.Tyr158Cys) c.319+2232A>G c.1357A>G (p.Thr453Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435580T>G | CA381701399 | DHCR7 | c.1223A>C (p.Tyr408Ser) c.1049A>C (p.Tyr350Ser) c.1274A>C (p.Tyr425Ser) c.1259A>C (p.Tyr420Ser) c.1231A>C (p.Thr411Pro) n.1263A>C c.638A>C (p.Tyr213Ser) c.1127A>C (p.Tyr376Ser) c.724A>C (p.Thr242Pro) c.473A>C (p.Tyr158Ser) c.319+2232A>C c.1357A>C (p.Thr453Pro) | |
11 | g.71435580T= | CA1981486893 | DHCR7 | c.1223A= (p.Tyr408=) c.1049A= (p.Tyr350=) c.1274A= (p.Tyr425=) c.1259A= (p.Tyr420=) c.1231A= (p.Thr411=) n.1263A= c.638A= (p.Tyr213=) c.1127A= (p.Tyr376=) c.724A= (p.Thr242=) c.473A= (p.Tyr158=) c.319+2232A= c.1357A= (p.Thr453=) | |
11 | g.71435581A= | CA1981486894 | DHCR7 | c.1222T= (p.Tyr408=) c.1048T= (p.Tyr350=) c.1273T= (p.Tyr425=) c.1258T= (p.Tyr420=) c.1230T= (p.Thr410=) n.1262T= c.637T= (p.Tyr213=) c.1126T= (p.Tyr376=) c.723T= (p.Thr241=) c.472T= (p.Tyr158=) c.319+2231T= c.1356T= (p.Thr452=) | |
11 | g.71435581A>C | CA381701401 | DHCR7 | c.1222T>G (p.Tyr408Asp) c.1048T>G (p.Tyr350Asp) c.1273T>G (p.Tyr425Asp) c.1258T>G (p.Tyr420Asp) c.1230T>G (p.Thr410=) n.1262T>G c.637T>G (p.Tyr213Asp) c.1126T>G (p.Tyr376Asp) c.723T>G (p.Thr241=) c.472T>G (p.Tyr158Asp) c.319+2231T>G c.1356T>G (p.Thr452=) | |
11 | g.71435581A>G | CA224324187 | DHCR7 | c.1222T>C (p.Tyr408His) c.1048T>C (p.Tyr350His) c.1273T>C (p.Tyr425His) c.1258T>C (p.Tyr420His) c.1230T>C (p.Thr410=) n.1262T>C c.637T>C (p.Tyr213His) c.1126T>C (p.Tyr376His) c.723T>C (p.Thr241=) c.472T>C (p.Tyr158His) c.319+2231T>C c.1356T>C (p.Thr452=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435581A>T | CA381701404 | DHCR7 | c.1222T>A (p.Tyr408Asn) c.1048T>A (p.Tyr350Asn) c.1273T>A (p.Tyr425Asn) c.1258T>A (p.Tyr420Asn) c.1230T>A (p.Thr410=) n.1262T>A c.637T>A (p.Tyr213Asn) c.1126T>A (p.Tyr376Asn) c.723T>A (p.Thr241=) c.472T>A (p.Tyr158Asn) c.319+2231T>A c.1356T>A (p.Thr452=) | |
11 | g.71435582G>A | CA381701406 | DHCR7 | c.1221C>T (p.Asn407=) c.1047C>T (p.Asn349=) c.1272C>T (p.Asn424=) c.1257C>T (p.Asn419=) c.1229C>T (p.Thr410Ile) n.1261C>T c.636C>T (p.Asn212=) c.1125C>T (p.Asn375=) c.722C>T (p.Thr241Ile) c.471C>T (p.Asn157=) c.319+2230C>T c.1355C>T (p.Thr452Ile) | gnomAD v4 |
11 | g.71435582G>C | CA381701408 | DHCR7 | c.1221C>G (p.Asn407Lys) c.1047C>G (p.Asn349Lys) c.1272C>G (p.Asn424Lys) c.1257C>G (p.Asn419Lys) c.1229C>G (p.Thr410Ser) n.1261C>G c.636C>G (p.Asn212Lys) c.1125C>G (p.Asn375Lys) c.722C>G (p.Thr241Ser) c.471C>G (p.Asn157Lys) c.319+2230C>G c.1355C>G (p.Thr452Ser) | |
11 | g.71435582G= | CA1981486895 | DHCR7 | c.1221C= (p.Asn407=) c.1047C= (p.Asn349=) c.1272C= (p.Asn424=) c.1257C= (p.Asn419=) c.1229C= (p.Thr410=) n.1261C= c.636C= (p.Asn212=) c.1125C= (p.Asn375=) c.722C= (p.Thr241=) c.471C= (p.Asn157=) c.319+2230C= c.1355C= (p.Thr452=) | |
11 | g.71435582G>T | CA381701409 | DHCR7 | c.1221C>A (p.Asn407Lys) c.1047C>A (p.Asn349Lys) c.1272C>A (p.Asn424Lys) c.1257C>A (p.Asn419Lys) c.1229C>A (p.Thr410Asn) n.1261C>A c.636C>A (p.Asn212Lys) c.1125C>A (p.Asn375Lys) c.722C>A (p.Thr241Asn) c.471C>A (p.Asn157Lys) c.319+2230C>A c.1355C>A (p.Thr452Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435583T>A | CA381701412 | DHCR7 | c.1220A>T (p.Asn407Ile) c.1046A>T (p.Asn349Ile) c.1271A>T (p.Asn424Ile) c.1256A>T (p.Asn419Ile) c.1228A>T (p.Thr410Ser) n.1260A>T c.635A>T (p.Asn212Ile) c.1124A>T (p.Asn375Ile) c.721A>T (p.Thr241Ser) c.470A>T (p.Asn157Ile) c.319+2229A>T c.1354A>T (p.Thr452Ser) | |
11 | g.71435583T>C | CA6162284 | DHCR7 | c.1220A>G (p.Asn407Ser) c.1046A>G (p.Asn349Ser) c.1271A>G (p.Asn424Ser) c.1256A>G (p.Asn419Ser) c.1228A>G (p.Thr410Ala) n.1260A>G c.635A>G (p.Asn212Ser) c.1124A>G (p.Asn375Ser) c.721A>G (p.Thr241Ala) c.470A>G (p.Asn157Ser) c.319+2229A>G c.1354A>G (p.Thr452Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435583T>G | CA381701415 | DHCR7 | c.1220A>C (p.Asn407Thr) c.1046A>C (p.Asn349Thr) c.1271A>C (p.Asn424Thr) c.1256A>C (p.Asn419Thr) c.1228A>C (p.Thr410Pro) n.1260A>C c.635A>C (p.Asn212Thr) c.1124A>C (p.Asn375Thr) c.721A>C (p.Thr241Pro) c.470A>C (p.Asn157Thr) c.319+2229A>C c.1354A>C (p.Thr452Pro) | gnomAD v4 |
11 | g.71435583T= | CA1981486896 | DHCR7 | c.1220A= (p.Asn407=) c.1046A= (p.Asn349=) c.1271A= (p.Asn424=) c.1256A= (p.Asn419=) c.1228A= (p.Thr410=) n.1260A= c.635A= (p.Asn212=) c.1124A= (p.Asn375=) c.721A= (p.Thr241=) c.470A= (p.Asn157=) c.319+2229A= c.1354A= (p.Thr452=) | |
11 | g.71435584T>A | CA6162285 | DHCR7 | c.1219A>T (p.Asn407Tyr) c.1045A>T (p.Asn349Tyr) c.1270A>T (p.Asn424Tyr) c.1255A>T (p.Asn419Tyr) c.1227A>T (p.Ser409=) n.1259A>T c.634A>T (p.Asn212Tyr) c.1123A>T (p.Asn375Tyr) c.720A>T (p.Ser240=) c.469A>T (p.Asn157Tyr) c.319+2228A>T c.1353A>T (p.Ser451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435584T>C | CA381701421 | DHCR7 | c.1219A>G (p.Asn407Asp) c.1045A>G (p.Asn349Asp) c.1270A>G (p.Asn424Asp) c.1255A>G (p.Asn419Asp) c.1227A>G (p.Ser409=) n.1259A>G c.634A>G (p.Asn212Asp) c.1123A>G (p.Asn375Asp) c.720A>G (p.Ser240=) c.469A>G (p.Asn157Asp) c.319+2228A>G c.1353A>G (p.Ser451=) | |
11 | g.71435584T>G | CA381701419 | DHCR7 | c.1219A>C (p.Asn407His) c.1045A>C (p.Asn349His) c.1270A>C (p.Asn424His) c.1255A>C (p.Asn419His) c.1227A>C (p.Ser409=) n.1259A>C c.634A>C (p.Asn212His) c.1123A>C (p.Asn375His) c.720A>C (p.Ser240=) c.469A>C (p.Asn157His) c.319+2228A>C c.1353A>C (p.Ser451=) | |
11 | g.71435584T= | CA1981486897 | DHCR7 | c.1219A= (p.Asn407=) c.1045A= (p.Asn349=) c.1270A= (p.Asn424=) c.1255A= (p.Asn419=) c.1227A= (p.Ser409=) n.1259A= c.634A= (p.Asn212=) c.1123A= (p.Asn375=) c.720A= (p.Ser240=) c.469A= (p.Asn157=) c.319+2228A= c.1353A= (p.Ser451=) | |
11 | g.71435585G>A | CA381701424 | DHCR7 | c.1218C>T (p.Phe406=) c.1044C>T (p.Phe348=) c.1269C>T (p.Phe423=) c.1254C>T (p.Phe418=) c.1226C>T (p.Ser409Leu) n.1258C>T c.633C>T (p.Phe211=) c.1122C>T (p.Phe374=) c.719C>T (p.Ser240Leu) c.468C>T (p.Phe156=) c.319+2227C>T c.1352C>T (p.Ser451Leu) | |
11 | g.71435585G>C | CA381701426 | DHCR7 | c.1218C>G (p.Phe406Leu) c.1044C>G (p.Phe348Leu) c.1269C>G (p.Phe423Leu) c.1254C>G (p.Phe418Leu) c.1226C>G (p.Ser409Ter) n.1258C>G c.633C>G (p.Phe211Leu) c.1122C>G (p.Phe374Leu) c.719C>G (p.Ser240Ter) c.468C>G (p.Phe156Leu) c.319+2227C>G c.1352C>G (p.Ser451Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.71435585G= | CA1981486898 | DHCR7 | c.1218C= (p.Phe406=) c.1044C= (p.Phe348=) c.1269C= (p.Phe423=) c.1254C= (p.Phe418=) c.1226C= (p.Ser409=) n.1258C= c.633C= (p.Phe211=) c.1122C= (p.Phe374=) c.719C= (p.Ser240=) c.468C= (p.Phe156=) c.319+2227C= c.1352C= (p.Ser451=) | |
11 | g.71435585G>T | CA381701427 | DHCR7 | c.1218C>A (p.Phe406Leu) c.1044C>A (p.Phe348Leu) c.1269C>A (p.Phe423Leu) c.1254C>A (p.Phe418Leu) c.1226C>A (p.Ser409Ter) n.1258C>A c.633C>A (p.Phe211Leu) c.1122C>A (p.Phe374Leu) c.719C>A (p.Ser240Ter) c.468C>A (p.Phe156Leu) c.319+2227C>A c.1352C>A (p.Ser451Ter) | |
11 | g.71435586A>C | CA381701429 | DHCR7 | c.1217T>G (p.Phe406Cys) c.1043T>G (p.Phe348Cys) c.1268T>G (p.Phe423Cys) c.1253T>G (p.Phe418Cys) c.1225T>G (p.Ser409Ala) n.1257T>G c.632T>G (p.Phe211Cys) c.1121T>G (p.Phe374Cys) c.718T>G (p.Ser240Ala) c.467T>G (p.Phe156Cys) c.319+2226T>G c.1351T>G (p.Ser451Ala) | |
11 | g.71435586A>G | CA381701431 | DHCR7 | c.1217T>C (p.Phe406Ser) c.1043T>C (p.Phe348Ser) c.1268T>C (p.Phe423Ser) c.1253T>C (p.Phe418Ser) c.1225T>C (p.Ser409Pro) n.1257T>C c.632T>C (p.Phe211Ser) c.1121T>C (p.Phe374Ser) c.718T>C (p.Ser240Pro) c.467T>C (p.Phe156Ser) c.319+2226T>C c.1351T>C (p.Ser451Pro) | |
11 | g.71435586A>T | CA381701433 | DHCR7 | c.1217T>A (p.Phe406Tyr) c.1043T>A (p.Phe348Tyr) c.1268T>A (p.Phe423Tyr) c.1253T>A (p.Phe418Tyr) c.1225T>A (p.Ser409Thr) n.1257T>A c.632T>A (p.Phe211Tyr) c.1121T>A (p.Phe374Tyr) c.718T>A (p.Ser240Thr) c.467T>A (p.Phe156Tyr) c.319+2226T>A c.1351T>A (p.Ser451Thr) | |
11 | g.71435587A>C | CA381701437 | DHCR7 | c.1216T>G (p.Phe406Val) c.1042T>G (p.Phe348Val) c.1267T>G (p.Phe423Val) c.1252T>G (p.Phe418Val) c.1224T>G (p.Thr408=) n.1256T>G c.631T>G (p.Phe211Val) c.1120T>G (p.Phe374Val) c.717T>G (p.Thr239=) c.466T>G (p.Phe156Val) c.319+2225T>G c.1350T>G (p.Thr450=) | |
11 | g.71435587A>G | CA381701436 | DHCR7 | c.1216T>C (p.Phe406Leu) c.1042T>C (p.Phe348Leu) c.1267T>C (p.Phe423Leu) c.1252T>C (p.Phe418Leu) c.1224T>C (p.Thr408=) n.1256T>C c.631T>C (p.Phe211Leu) c.1120T>C (p.Phe374Leu) c.717T>C (p.Thr239=) c.466T>C (p.Phe156Leu) c.319+2225T>C c.1350T>C (p.Thr450=) | gnomAD v4 |
11 | g.71435587A>T | CA381701435 | DHCR7 | c.1216T>A (p.Phe406Ile) c.1042T>A (p.Phe348Ile) c.1267T>A (p.Phe423Ile) c.1252T>A (p.Phe418Ile) c.1224T>A (p.Thr408=) n.1256T>A c.631T>A (p.Phe211Ile) c.1120T>A (p.Phe374Ile) c.717T>A (p.Thr239=) c.466T>A (p.Phe156Ile) c.319+2225T>A c.1350T>A (p.Thr450=) | |
11 | g.71435588G>A | CA381701438 | DHCR7 | c.1215C>T (p.His405=) c.1041C>T (p.His347=) c.1266C>T (p.His422=) c.1251C>T (p.His417=) c.1223C>T (p.Thr408Ile) n.1255C>T c.630C>T (p.His210=) c.1119C>T (p.His373=) c.716C>T (p.Thr239Ile) c.465C>T (p.His155=) c.319+2224C>T c.1349C>T (p.Thr450Ile) | |
11 | g.71435588G>C | CA6162286 | DHCR7 | c.1215C>G (p.His405Gln) c.1041C>G (p.His347Gln) c.1266C>G (p.His422Gln) c.1251C>G (p.His417Gln) c.1223C>G (p.Thr408Ser) n.1255C>G c.630C>G (p.His210Gln) c.1119C>G (p.His373Gln) c.716C>G (p.Thr239Ser) c.465C>G (p.His155Gln) c.319+2224C>G c.1349C>G (p.Thr450Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435588G= | CA1981486899 | DHCR7 | c.1215C= (p.His405=) c.1041C= (p.His347=) c.1266C= (p.His422=) c.1251C= (p.His417=) c.1223C= (p.Thr408=) n.1255C= c.630C= (p.His210=) c.1119C= (p.His373=) c.716C= (p.Thr239=) c.465C= (p.His155=) c.319+2224C= c.1349C= (p.Thr450=) | |
11 | g.71435588G>T | CA381701441 | DHCR7 | c.1215C>A (p.His405Gln) c.1041C>A (p.His347Gln) c.1266C>A (p.His422Gln) c.1251C>A (p.His417Gln) c.1223C>A (p.Thr408Asn) n.1255C>A c.630C>A (p.His210Gln) c.1119C>A (p.His373Gln) c.716C>A (p.Thr239Asn) c.465C>A (p.His155Gln) c.319+2224C>A c.1349C>A (p.Thr450Asn) | |
11 | g.71435588_71435589delinsGT | CA1981486900 | DHCR7 | c.1214_1215delinsAC (p.His405=) c.1040_1041delinsAC (p.His347=) c.1265_1266delinsAC (p.His422=) c.1250_1251delinsAC (p.His417=) c.1222_1223delinsAC (p.Thr408=) n.1254_1255delinsAC c.629_630delinsAC (p.His210=) c.1118_1119delinsAC (p.His373=) c.715_716delinsAC (p.Thr239=) c.464_465delinsAC (p.His155=) c.319+2223_319+2224delinsAC c.1348_1349delinsAC (p.Thr450=) | |
11 | g.71435589del | CA679810785 | DHCR7 | c.1214del (p.His405ProfsTer8) c.1040del (p.His347ProfsTer8) c.1265del (p.His422ProfsTer8) c.1250del (p.His417ProfsTer8) c.1222del (p.Thr408LeufsTer?) n.1254del c.629del (p.His210ProfsTer8) c.1118del (p.His373ProfsTer8) c.715del (p.Thr239LeufsTer?) c.464del (p.His155ProfsTer8) c.319+2223del c.1348del (p.Thr450LeufsTer?) | ClinVar dbSNP |
11 | g.71435589T>A | CA381701444 | DHCR7 | c.1214A>T (p.His405Leu) c.1040A>T (p.His347Leu) c.1265A>T (p.His422Leu) c.1250A>T (p.His417Leu) c.1222A>T (p.Thr408Ser) n.1254A>T c.629A>T (p.His210Leu) c.1118A>T (p.His373Leu) c.715A>T (p.Thr239Ser) c.464A>T (p.His155Leu) c.319+2223A>T c.1348A>T (p.Thr450Ser) | |
11 | g.71435589T>C | CA381701446 | DHCR7 | c.1214A>G (p.His405Arg) c.1040A>G (p.His347Arg) c.1265A>G (p.His422Arg) c.1250A>G (p.His417Arg) c.1222A>G (p.Thr408Ala) n.1254A>G c.629A>G (p.His210Arg) c.1118A>G (p.His373Arg) c.715A>G (p.Thr239Ala) c.464A>G (p.His155Arg) c.319+2223A>G c.1348A>G (p.Thr450Ala) | dbSNP |
11 | g.71435589T>G | CA381701448 | DHCR7 | c.1214A>C (p.His405Pro) c.1040A>C (p.His347Pro) c.1265A>C (p.His422Pro) c.1250A>C (p.His417Pro) c.1222A>C (p.Thr408Pro) n.1254A>C c.629A>C (p.His210Pro) c.1118A>C (p.His373Pro) c.715A>C (p.Thr239Pro) c.464A>C (p.His155Pro) c.319+2223A>C c.1348A>C (p.Thr450Pro) | |
11 | g.71435589T= | CA1981486901 | DHCR7 | c.1214A= (p.His405=) c.1040A= (p.His347=) c.1265A= (p.His422=) c.1250A= (p.His417=) c.1222A= (p.Thr408=) n.1254A= c.629A= (p.His210=) c.1118A= (p.His373=) c.715A= (p.Thr239=) c.464A= (p.His155=) c.319+2223A= c.1348A= (p.Thr450=) | |
11 | g.71435590G>A | CA381701450 | DHCR7 | c.1213C>T (p.His405Tyr) c.1039C>T (p.His347Tyr) c.1264C>T (p.His422Tyr) c.1249C>T (p.His417Tyr) c.1221C>T (p.Ala407=) n.1253C>T c.628C>T (p.His210Tyr) c.1117C>T (p.His373Tyr) c.714C>T (p.Ala238=) c.463C>T (p.His155Tyr) c.319+2222C>T c.1347C>T (p.Ala449=) | |
11 | g.71435590G>C | CA381701454 | DHCR7 | c.1213C>G (p.His405Asp) c.1039C>G (p.His347Asp) c.1264C>G (p.His422Asp) c.1249C>G (p.His417Asp) c.1221C>G (p.Ala407=) n.1253C>G c.628C>G (p.His210Asp) c.1117C>G (p.His373Asp) c.714C>G (p.Ala238=) c.463C>G (p.His155Asp) c.319+2222C>G c.1347C>G (p.Ala449=) | |
11 | g.71435590G>T | CA381701452 | DHCR7 | c.1213C>A (p.His405Asn) c.1039C>A (p.His347Asn) c.1264C>A (p.His422Asn) c.1249C>A (p.His417Asn) c.1221C>A (p.Ala407=) n.1253C>A c.628C>A (p.His210Asn) c.1117C>A (p.His373Asn) c.714C>A (p.Ala238=) c.463C>A (p.His155Asn) c.319+2222C>A c.1347C>A (p.Ala449=) | gnomAD v4 |
11 | g.71435591G>A | CA381701456 | DHCR7 | c.1212C>T (p.Arg404=) c.1038C>T (p.Arg346=) c.1263C>T (p.Arg421=) c.1248C>T (p.Arg416=) c.1220C>T (p.Ala407Val) n.1252C>T c.627C>T (p.Arg209=) c.1116C>T (p.Arg372=) c.713C>T (p.Ala238Val) c.462C>T (p.Arg154=) c.319+2221C>T c.1346C>T (p.Ala449Val) | ClinVar |
11 | g.71435591G>C | CA381701458 | DHCR7 | c.1212C>G (p.Arg404=) c.1038C>G (p.Arg346=) c.1263C>G (p.Arg421=) c.1248C>G (p.Arg416=) c.1220C>G (p.Ala407Gly) n.1252C>G c.627C>G (p.Arg209=) c.1116C>G (p.Arg372=) c.713C>G (p.Ala238Gly) c.462C>G (p.Arg154=) c.319+2221C>G c.1346C>G (p.Ala449Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435591G= | CA1981486902 | DHCR7 | c.1212C= (p.Arg404=) c.1038C= (p.Arg346=) c.1263C= (p.Arg421=) c.1248C= (p.Arg416=) c.1220C= (p.Ala407=) n.1252C= c.627C= (p.Arg209=) c.1116C= (p.Arg372=) c.713C= (p.Ala238=) c.462C= (p.Arg154=) c.319+2221C= c.1346C= (p.Ala449=) | |
11 | g.71435591G>T | CA381701460 | DHCR7 | c.1212C>A (p.Arg404=) c.1038C>A (p.Arg346=) c.1263C>A (p.Arg421=) c.1248C>A (p.Arg416=) c.1220C>A (p.Ala407Asp) n.1252C>A c.627C>A (p.Arg209=) c.1116C>A (p.Arg372=) c.713C>A (p.Ala238Asp) c.462C>A (p.Arg154=) c.319+2221C>A c.1346C>A (p.Ala449Asp) | gnomAD v4 |
11 | g.71435592del | CA2842972955 | DHCR7 | c.1211del (p.Arg404ProfsTer9) c.1037del (p.Arg346ProfsTer9) c.1262del (p.Arg421ProfsTer9) c.1247del (p.Arg416ProfsTer9) c.1219del (p.Ala407ProfsTer?) n.1251del c.626del (p.Arg209ProfsTer9) c.1115del (p.Arg372ProfsTer9) c.712del (p.Ala238ProfsTer?) c.461del (p.Arg154ProfsTer9) c.319+2220del c.1345del (p.Ala449ProfsTer?) | |
11 | g.71435592C>A | CA381701462 | DHCR7 | c.1211G>T (p.Arg404Leu) c.1037G>T (p.Arg346Leu) c.1262G>T (p.Arg421Leu) c.1247G>T (p.Arg416Leu) c.1219G>T (p.Ala407Ser) n.1251G>T c.626G>T (p.Arg209Leu) c.1115G>T (p.Arg372Leu) c.712G>T (p.Ala238Ser) c.461G>T (p.Arg154Leu) c.319+2220G>T c.1345G>T (p.Ala449Ser) | |
11 | g.71435592C= | CA1981486903 | DHCR7 | c.1211G= (p.Arg404=) c.1037G= (p.Arg346=) c.1262G= (p.Arg421=) c.1247G= (p.Arg416=) c.1219G= (p.Ala407=) n.1251G= c.626G= (p.Arg209=) c.1115G= (p.Arg372=) c.712G= (p.Ala238=) c.461G= (p.Arg154=) c.319+2220G= c.1345G= (p.Ala449=) | |
11 | g.71435592C>G | CA381701464 | DHCR7 | c.1211G>C (p.Arg404Pro) c.1037G>C (p.Arg346Pro) c.1262G>C (p.Arg421Pro) c.1247G>C (p.Arg416Pro) c.1219G>C (p.Ala407Pro) n.1251G>C c.626G>C (p.Arg209Pro) c.1115G>C (p.Arg372Pro) c.712G>C (p.Ala238Pro) c.461G>C (p.Arg154Pro) c.319+2220G>C c.1345G>C (p.Ala449Pro) | |
11 | g.71435592C>T | CA381701465 | DHCR7 | c.1211G>A (p.Arg404His) c.1037G>A (p.Arg346His) c.1262G>A (p.Arg421His) c.1247G>A (p.Arg416His) c.1219G>A (p.Ala407Thr) n.1251G>A c.626G>A (p.Arg209His) c.1115G>A (p.Arg372His) c.712G>A (p.Ala238Thr) c.461G>A (p.Arg154His) c.319+2220G>A c.1345G>A (p.Ala449Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.71435593G>A | CA340615 | DHCR7 | c.1210C>T (p.Arg404Cys) c.1036C>T (p.Arg346Cys) c.1261C>T (p.Arg421Cys) c.1246C>T (p.Arg416Cys) c.1218C>T (p.Pro406=) n.1250C>T c.625C>T (p.Arg209Cys) c.1114C>T (p.Arg372Cys) c.711C>T (p.Pro237=) c.460C>T (p.Arg154Cys) c.319+2219C>T c.1344C>T (p.Pro448=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435593G>C | CA381701468 | DHCR7 | c.1210C>G (p.Arg404Gly) c.1036C>G (p.Arg346Gly) c.1261C>G (p.Arg421Gly) c.1246C>G (p.Arg416Gly) c.1218C>G (p.Pro406=) n.1250C>G c.625C>G (p.Arg209Gly) c.1114C>G (p.Arg372Gly) c.711C>G (p.Pro237=) c.460C>G (p.Arg154Gly) c.319+2219C>G c.1344C>G (p.Pro448=) | ClinVar dbSNP gnomAD v4 |
11 | g.71435593G= | CA1981486904 | DHCR7 | c.1210C= (p.Arg404=) c.1036C= (p.Arg346=) c.1261C= (p.Arg421=) c.1246C= (p.Arg416=) c.1218C= (p.Pro406=) n.1250C= c.625C= (p.Arg209=) c.1114C= (p.Arg372=) c.711C= (p.Pro237=) c.460C= (p.Arg154=) c.319+2219C= c.1344C= (p.Pro448=) | |
11 | g.71435593G>T | CA381701470 | DHCR7 | c.1210C>A (p.Arg404Ser) c.1036C>A (p.Arg346Ser) c.1261C>A (p.Arg421Ser) c.1246C>A (p.Arg416Ser) c.1218C>A (p.Pro406=) n.1250C>A c.625C>A (p.Arg209Ser) c.1114C>A (p.Arg372Ser) c.711C>A (p.Pro237=) c.460C>A (p.Arg154Ser) c.319+2219C>A c.1344C>A (p.Pro448=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435595del | CA2697548787 | DHCR7 | c.1210del (p.Arg404AlafsTer9) c.1036del (p.Arg346AlafsTer9) c.1261del (p.Arg421AlafsTer9) c.1246del (p.Arg416AlafsTer9) c.1218del (p.Ala407ProfsTer?) n.1250del c.625del (p.Arg209AlafsTer9) c.1114del (p.Arg372AlafsTer9) c.711del (p.Ala238ProfsTer?) c.460del (p.Arg154AlafsTer9) c.319+2219del c.1344del (p.Ala449ProfsTer?) | ClinVar |
11 | g.71435594G>A | CA381701472 | DHCR7 | c.1209C>T (p.Ala403=) c.1035C>T (p.Ala345=) c.1260C>T (p.Ala420=) c.1245C>T (p.Ala415=) c.1217C>T (p.Pro406Leu) n.1249C>T c.624C>T (p.Ala208=) c.1113C>T (p.Ala371=) c.710C>T (p.Pro237Leu) c.459C>T (p.Ala153=) c.319+2218C>T c.1343C>T (p.Pro448Leu) | ClinVar dbSNP |
11 | g.71435594G>C | CA381701480 | DHCR7 | c.1209C>G (p.Ala403=) c.1035C>G (p.Ala345=) c.1260C>G (p.Ala420=) c.1245C>G (p.Ala415=) c.1217C>G (p.Pro406Arg) n.1249C>G c.624C>G (p.Ala208=) c.1113C>G (p.Ala371=) c.710C>G (p.Pro237Arg) c.459C>G (p.Ala153=) c.319+2218C>G c.1343C>G (p.Pro448Arg) | |
11 | g.71435594G= | CA1981486905 | DHCR7 | c.1209C= (p.Ala403=) c.1035C= (p.Ala345=) c.1260C= (p.Ala420=) c.1245C= (p.Ala415=) c.1217C= (p.Pro406=) n.1249C= c.624C= (p.Ala208=) c.1113C= (p.Ala371=) c.710C= (p.Pro237=) c.459C= (p.Ala153=) c.319+2218C= c.1343C= (p.Pro448=) | |
11 | g.71435594G>T | CA381701482 | DHCR7 | c.1209C>A (p.Ala403=) c.1035C>A (p.Ala345=) c.1260C>A (p.Ala420=) c.1245C>A (p.Ala415=) c.1217C>A (p.Pro406His) n.1249C>A c.624C>A (p.Ala208=) c.1113C>A (p.Ala371=) c.710C>A (p.Pro237His) c.459C>A (p.Ala153=) c.319+2218C>A c.1343C>A (p.Pro448His) | |
11 | g.71435595G>A | CA381701491 | DHCR7 | c.1208C>T (p.Ala403Val) c.1034C>T (p.Ala345Val) c.1259C>T (p.Ala420Val) c.1244C>T (p.Ala415Val) c.1216C>T (p.Pro406Ser) n.1248C>T c.623C>T (p.Ala208Val) c.1112C>T (p.Ala371Val) c.709C>T (p.Pro237Ser) c.458C>T (p.Ala153Val) c.319+2217C>T c.1342C>T (p.Pro448Ser) | |
11 | g.71435595G>C | CA381701494 | DHCR7 | c.1208C>G (p.Ala403Gly) c.1034C>G (p.Ala345Gly) c.1259C>G (p.Ala420Gly) c.1244C>G (p.Ala415Gly) c.1216C>G (p.Pro406Ala) n.1248C>G c.623C>G (p.Ala208Gly) c.1112C>G (p.Ala371Gly) c.709C>G (p.Pro237Ala) c.458C>G (p.Ala153Gly) c.319+2217C>G c.1342C>G (p.Pro448Ala) | gnomAD v4 |
11 | g.71435595G>T | CA381701493 | DHCR7 | c.1208C>A (p.Ala403Asp) c.1034C>A (p.Ala345Asp) c.1259C>A (p.Ala420Asp) c.1244C>A (p.Ala415Asp) c.1216C>A (p.Pro406Thr) n.1248C>A c.623C>A (p.Ala208Asp) c.1112C>A (p.Ala371Asp) c.709C>A (p.Pro237Thr) c.458C>A (p.Ala153Asp) c.319+2217C>A c.1342C>A (p.Pro448Thr) | gnomAD v4 |
11 | g.71435596C>A | CA381701497 | DHCR7 | c.1207G>T (p.Ala403Ser) c.1033G>T (p.Ala345Ser) c.1258G>T (p.Ala420Ser) c.1243G>T (p.Ala415Ser) c.1215G>T (p.Trp405Cys) n.1247G>T c.622G>T (p.Ala208Ser) c.1111G>T (p.Ala371Ser) c.708G>T (p.Trp236Cys) c.457G>T (p.Ala153Ser) c.319+2216G>T c.1341G>T (p.Trp447Cys) | |
11 | g.71435596C= | CA1981486906 | DHCR7 | c.1207G= (p.Ala403=) c.1033G= (p.Ala345=) c.1258G= (p.Ala420=) c.1243G= (p.Ala415=) c.1215G= (p.Trp405=) n.1247G= c.622G= (p.Ala208=) c.1111G= (p.Ala371=) c.708G= (p.Trp236=) c.457G= (p.Ala153=) c.319+2216G= c.1341G= (p.Trp447=) | |
11 | g.71435596C>G | CA224324238 | DHCR7 | c.1207G>C (p.Ala403Pro) c.1033G>C (p.Ala345Pro) c.1258G>C (p.Ala420Pro) c.1243G>C (p.Ala415Pro) c.1215G>C (p.Trp405Cys) n.1247G>C c.622G>C (p.Ala208Pro) c.1111G>C (p.Ala371Pro) c.708G>C (p.Trp236Cys) c.457G>C (p.Ala153Pro) c.319+2216G>C c.1341G>C (p.Trp447Cys) | dbSNP gnomAD v4 |
11 | g.71435596C>T | CA381701500 | DHCR7 | c.1207G>A (p.Ala403Thr) c.1033G>A (p.Ala345Thr) c.1258G>A (p.Ala420Thr) c.1243G>A (p.Ala415Thr) c.1215G>A (p.Trp405Ter) n.1247G>A c.622G>A (p.Ala208Thr) c.1111G>A (p.Ala371Thr) c.708G>A (p.Trp236Ter) c.457G>A (p.Ala153Thr) c.319+2216G>A c.1341G>A (p.Trp447Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435597C>A | CA381701502 | DHCR7 | c.1206G>T (p.Val402=) c.1032G>T (p.Val344=) c.1257G>T (p.Val419=) c.1242G>T (p.Val414=) c.1214G>T (p.Trp405Leu) n.1246G>T c.621G>T (p.Val207=) c.1110G>T (p.Val370=) c.707G>T (p.Trp236Leu) c.456G>T (p.Val152=) c.319+2215G>T c.1340G>T (p.Trp447Leu) | |
11 | g.71435597C>G | CA381701504 | DHCR7 | c.1206G>C (p.Val402=) c.1032G>C (p.Val344=) c.1257G>C (p.Val419=) c.1242G>C (p.Val414=) c.1214G>C (p.Trp405Ser) n.1246G>C c.621G>C (p.Val207=) c.1110G>C (p.Val370=) c.707G>C (p.Trp236Ser) c.456G>C (p.Val152=) c.319+2215G>C c.1340G>C (p.Trp447Ser) | |
11 | g.71435597C>T | CA381701506 | DHCR7 | c.1206G>A (p.Val402=) c.1032G>A (p.Val344=) c.1257G>A (p.Val419=) c.1242G>A (p.Val414=) c.1214G>A (p.Trp405Ter) n.1246G>A c.621G>A (p.Val207=) c.1110G>A (p.Val370=) c.707G>A (p.Trp236Ter) c.456G>A (p.Val152=) c.319+2215G>A c.1340G>A (p.Trp447Ter) | |
11 | g.71435598A>C | CA381701508 | DHCR7 | c.1205T>G (p.Val402Gly) c.1031T>G (p.Val344Gly) c.1256T>G (p.Val419Gly) c.1241T>G (p.Val414Gly) c.1213T>G (p.Trp405Gly) n.1245T>G c.620T>G (p.Val207Gly) c.1109T>G (p.Val370Gly) c.706T>G (p.Trp236Gly) c.455T>G (p.Val152Gly) c.319+2214T>G c.1339T>G (p.Trp447Gly) | gnomAD v4 |
11 | g.71435598A>G | CA381701510 | DHCR7 | c.1205T>C (p.Val402Ala) c.1031T>C (p.Val344Ala) c.1256T>C (p.Val419Ala) c.1241T>C (p.Val414Ala) c.1213T>C (p.Trp405Arg) n.1245T>C c.620T>C (p.Val207Ala) c.1109T>C (p.Val370Ala) c.706T>C (p.Trp236Arg) c.455T>C (p.Val152Ala) c.319+2214T>C c.1339T>C (p.Trp447Arg) | |
11 | g.71435598A>T | CA381701511 | DHCR7 | c.1205T>A (p.Val402Glu) c.1031T>A (p.Val344Glu) c.1256T>A (p.Val419Glu) c.1241T>A (p.Val414Glu) c.1213T>A (p.Trp405Arg) n.1245T>A c.620T>A (p.Val207Glu) c.1109T>A (p.Val370Glu) c.706T>A (p.Trp236Arg) c.455T>A (p.Val152Glu) c.319+2214T>A c.1339T>A (p.Trp447Arg) | |
11 | g.71435599C>A | CA381701512 | DHCR7 | c.1204G>T (p.Val402Leu) c.1030G>T (p.Val344Leu) c.1255G>T (p.Val419Leu) c.1240G>T (p.Val414Leu) c.1212G>T (p.Ala404=) n.1244G>T c.619G>T (p.Val207Leu) c.1108G>T (p.Val370Leu) c.705G>T (p.Ala235=) c.454G>T (p.Val152Leu) c.319+2213G>T c.1338G>T (p.Ala446=) | |
11 | g.71435599C= | CA1981486907 | DHCR7 | c.1204G= (p.Val402=) c.1030G= (p.Val344=) c.1255G= (p.Val419=) c.1240G= (p.Val414=) c.1212G= (p.Ala404=) n.1244G= c.619G= (p.Val207=) c.1108G= (p.Val370=) c.705G= (p.Ala235=) c.454G= (p.Val152=) c.319+2213G= c.1338G= (p.Ala446=) | |
11 | g.71435599C>G | CA6162288 | DHCR7 | c.1204G>C (p.Val402Leu) c.1030G>C (p.Val344Leu) c.1255G>C (p.Val419Leu) c.1240G>C (p.Val414Leu) c.1212G>C (p.Ala404=) n.1244G>C c.619G>C (p.Val207Leu) c.1108G>C (p.Val370Leu) c.705G>C (p.Ala235=) c.454G>C (p.Val152Leu) c.319+2213G>C c.1338G>C (p.Ala446=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435599C>T | CA6162287 | DHCR7 | c.1204G>A (p.Val402Met) c.1030G>A (p.Val344Met) c.1255G>A (p.Val419Met) c.1240G>A (p.Val414Met) c.1212G>A (p.Ala404=) n.1244G>A c.619G>A (p.Val207Met) c.1108G>A (p.Val370Met) c.705G>A (p.Ala235=) c.454G>A (p.Val152Met) c.319+2213G>A c.1338G>A (p.Ala446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435600G>A | CA6162289 | DHCR7 | c.1203C>T (p.Gly401=) c.1029C>T (p.Gly343=) c.1254C>T (p.Gly418=) c.1239C>T (p.Gly413=) c.1211C>T (p.Ala404Val) n.1243C>T c.618C>T (p.Gly206=) c.1107C>T (p.Gly369=) c.704C>T (p.Ala235Val) c.453C>T (p.Gly151=) c.319+2212C>T c.1337C>T (p.Ala446Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435600G>C | CA381701515 | DHCR7 | c.1203C>G (p.Gly401=) c.1029C>G (p.Gly343=) c.1254C>G (p.Gly418=) c.1239C>G (p.Gly413=) c.1211C>G (p.Ala404Gly) n.1243C>G c.618C>G (p.Gly206=) c.1107C>G (p.Gly369=) c.704C>G (p.Ala235Gly) c.453C>G (p.Gly151=) c.319+2212C>G c.1337C>G (p.Ala446Gly) | gnomAD v4 |
11 | g.71435600G= | CA1981486908 | DHCR7 | c.1203C= (p.Gly401=) c.1029C= (p.Gly343=) c.1254C= (p.Gly418=) c.1239C= (p.Gly413=) c.1211C= (p.Ala404=) n.1243C= c.618C= (p.Gly206=) c.1107C= (p.Gly369=) c.704C= (p.Ala235=) c.453C= (p.Gly151=) c.319+2212C= c.1337C= (p.Ala446=) | |
11 | g.71435600G>T | CA381701516 | DHCR7 | c.1203C>A (p.Gly401=) c.1029C>A (p.Gly343=) c.1254C>A (p.Gly418=) c.1239C>A (p.Gly413=) c.1211C>A (p.Ala404Glu) n.1243C>A c.618C>A (p.Gly206=) c.1107C>A (p.Gly369=) c.704C>A (p.Ala235Glu) c.453C>A (p.Gly151=) c.319+2212C>A c.1337C>A (p.Ala446Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435600dup | CA2842972956 | DHCR7 | c.1203dup (p.Val402ArgfsTer?) c.1029dup (p.Val344ArgfsTer?) c.1254dup (p.Val419ArgfsTer?) c.1239dup (p.Val414ArgfsTer?) c.1211dup (p.Trp405ValfsTer?) n.1243dup c.618dup (p.Val207ArgfsTer?) c.1107dup (p.Val370ArgfsTer?) c.704dup (p.Trp236ValfsTer?) c.453dup (p.Val152ArgfsTer?) c.319+2212dup c.1337dup (p.Trp447ValfsTer?) | |
11 | g.71435601C>A | CA381701519 | DHCR7 | c.1202G>T (p.Gly401Val) c.1028G>T (p.Gly343Val) c.1253G>T (p.Gly418Val) c.1238G>T (p.Gly413Val) c.1210G>T (p.Ala404Ser) n.1242G>T c.617G>T (p.Gly206Val) c.1106G>T (p.Gly369Val) c.703G>T (p.Ala235Ser) c.452G>T (p.Gly151Val) c.319+2211G>T c.1336G>T (p.Ala446Ser) | gnomAD v4 |
11 | g.71435601C>G | CA381701520 | DHCR7 | c.1202G>C (p.Gly401Ala) c.1028G>C (p.Gly343Ala) c.1253G>C (p.Gly418Ala) c.1238G>C (p.Gly413Ala) c.1210G>C (p.Ala404Pro) n.1242G>C c.617G>C (p.Gly206Ala) c.1106G>C (p.Gly369Ala) c.703G>C (p.Ala235Pro) c.452G>C (p.Gly151Ala) c.319+2211G>C c.1336G>C (p.Ala446Pro) | |
11 | g.71435601C>T | CA381701522 | DHCR7 | c.1202G>A (p.Gly401Asp) c.1028G>A (p.Gly343Asp) c.1253G>A (p.Gly418Asp) c.1238G>A (p.Gly413Asp) c.1210G>A (p.Ala404Thr) n.1242G>A c.617G>A (p.Gly206Asp) c.1106G>A (p.Gly369Asp) c.703G>A (p.Ala235Thr) c.452G>A (p.Gly151Asp) c.319+2211G>A c.1336G>A (p.Ala446Thr) | gnomAD v4 |
11 | g.71435602C>A | CA381701523 | DHCR7 | c.1201G>T (p.Gly401Cys) c.1027G>T (p.Gly343Cys) c.1252G>T (p.Gly418Cys) c.1237G>T (p.Gly413Cys) c.1209G>T (p.Gly403=) n.1241G>T c.616G>T (p.Gly206Cys) c.1105G>T (p.Gly369Cys) c.702G>T (p.Gly234=) c.451G>T (p.Gly151Cys) c.319+2210G>T c.1335G>T (p.Gly445=) | |
11 | g.71435602C= | CA1981486909 | DHCR7 | c.1201G= (p.Gly401=) c.1027G= (p.Gly343=) c.1252G= (p.Gly418=) c.1237G= (p.Gly413=) c.1209G= (p.Gly403=) n.1241G= c.616G= (p.Gly206=) c.1105G= (p.Gly369=) c.702G= (p.Gly234=) c.451G= (p.Gly151=) c.319+2210G= c.1335G= (p.Gly445=) | |
11 | g.71435602C>G | CA381701525 | DHCR7 | c.1201G>C (p.Gly401Arg) c.1027G>C (p.Gly343Arg) c.1252G>C (p.Gly418Arg) c.1237G>C (p.Gly413Arg) c.1209G>C (p.Gly403=) n.1241G>C c.616G>C (p.Gly206Arg) c.1105G>C (p.Gly369Arg) c.702G>C (p.Gly234=) c.451G>C (p.Gly151Arg) c.319+2210G>C c.1335G>C (p.Gly445=) | |
11 | g.71435602C>T | CA381701526 | DHCR7 | c.1201G>A (p.Gly401Ser) c.1027G>A (p.Gly343Ser) c.1252G>A (p.Gly418Ser) c.1237G>A (p.Gly413Ser) c.1209G>A (p.Gly403=) n.1241G>A c.616G>A (p.Gly206Ser) c.1105G>A (p.Gly369Ser) c.702G>A (p.Gly234=) c.451G>A (p.Gly151Ser) c.319+2210G>A c.1335G>A (p.Gly445=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435603C>A | CA381701529 | DHCR7 | c.1200G>T (p.Trp400Cys) c.1026G>T (p.Trp342Cys) c.1251G>T (p.Trp417Cys) c.1236G>T (p.Trp412Cys) c.1208G>T (p.Gly403Val) n.1240G>T c.615G>T (p.Trp205Cys) c.1104G>T (p.Trp368Cys) c.701G>T (p.Gly234Val) c.450G>T (p.Trp150Cys) c.319+2209G>T c.1334G>T (p.Gly445Val) | |
11 | g.71435603C>G | CA381701531 | DHCR7 | c.1200G>C (p.Trp400Cys) c.1026G>C (p.Trp342Cys) c.1251G>C (p.Trp417Cys) c.1236G>C (p.Trp412Cys) c.1208G>C (p.Gly403Ala) n.1240G>C c.615G>C (p.Trp205Cys) c.1104G>C (p.Trp368Cys) c.701G>C (p.Gly234Ala) c.450G>C (p.Trp150Cys) c.319+2209G>C c.1334G>C (p.Gly445Ala) | |
11 | g.71435603C>T | CA381701533 | DHCR7 | c.1200G>A (p.Trp400Ter) c.1026G>A (p.Trp342Ter) c.1251G>A (p.Trp417Ter) c.1236G>A (p.Trp412Ter) c.1208G>A (p.Gly403Glu) n.1240G>A c.615G>A (p.Trp205Ter) c.1104G>A (p.Trp368Ter) c.701G>A (p.Gly234Glu) c.450G>A (p.Trp150Ter) c.319+2209G>A c.1334G>A (p.Gly445Glu) | |
11 | g.71435604C>A | CA381701536 | DHCR7 | c.1199G>T (p.Trp400Leu) c.1025G>T (p.Trp342Leu) c.1250G>T (p.Trp417Leu) c.1235G>T (p.Trp412Leu) c.1207G>T (p.Gly403Trp) n.1239G>T c.614G>T (p.Trp205Leu) c.1103G>T (p.Trp368Leu) c.700G>T (p.Gly234Trp) c.449G>T (p.Trp150Leu) c.319+2208G>T c.1333G>T (p.Gly445Trp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435604C= | CA1981486910 | DHCR7 | c.1199G= (p.Trp400=) c.1025G= (p.Trp342=) c.1250G= (p.Trp417=) c.1235G= (p.Trp412=) c.1207G= (p.Gly403=) n.1239G= c.614G= (p.Trp205=) c.1103G= (p.Trp368=) c.700G= (p.Gly234=) c.449G= (p.Trp150=) c.319+2208G= c.1333G= (p.Gly445=) | |
11 | g.71435604C>G | CA381701537 | DHCR7 | c.1199G>C (p.Trp400Ser) c.1025G>C (p.Trp342Ser) c.1250G>C (p.Trp417Ser) c.1235G>C (p.Trp412Ser) c.1207G>C (p.Gly403Arg) n.1239G>C c.614G>C (p.Trp205Ser) c.1103G>C (p.Trp368Ser) c.700G>C (p.Gly234Arg) c.449G>C (p.Trp150Ser) c.319+2208G>C c.1333G>C (p.Gly445Arg) | |
11 | g.71435604C>T | CA16041545 | DHCR7 | c.1199G>A (p.Trp400Ter) c.1025G>A (p.Trp342Ter) c.1250G>A (p.Trp417Ter) c.1235G>A (p.Trp412Ter) c.1207G>A (p.Gly403Arg) n.1239G>A c.614G>A (p.Trp205Ter) c.1103G>A (p.Trp368Ter) c.700G>A (p.Gly234Arg) c.449G>A (p.Trp150Ter) c.319+2208G>A c.1333G>A (p.Gly445Arg) | ClinVar dbSNP |
11 | g.71435605A= | CA1981486911 | DHCR7 | c.1198T= (p.Trp400=) c.1024T= (p.Trp342=) c.1249T= (p.Trp417=) c.1234T= (p.Trp412=) c.1206T= (p.Ser402=) n.1238T= c.613T= (p.Trp205=) c.1102T= (p.Trp368=) c.699T= (p.Ser233=) c.448T= (p.Trp150=) c.319+2207T= c.1332T= (p.Ser444=) | |
11 | g.71435605A>C | CA224324239 | DHCR7 | c.1198T>G (p.Trp400Gly) c.1024T>G (p.Trp342Gly) c.1249T>G (p.Trp417Gly) c.1234T>G (p.Trp412Gly) c.1206T>G (p.Ser402=) n.1238T>G c.613T>G (p.Trp205Gly) c.1102T>G (p.Trp368Gly) c.699T>G (p.Ser233=) c.448T>G (p.Trp150Gly) c.319+2207T>G c.1332T>G (p.Ser444=) | dbSNP COSMIC COSMIC |
11 | g.71435605A>G | CA381701541 | DHCR7 | c.1198T>C (p.Trp400Arg) c.1024T>C (p.Trp342Arg) c.1249T>C (p.Trp417Arg) c.1234T>C (p.Trp412Arg) c.1206T>C (p.Ser402=) n.1238T>C c.613T>C (p.Trp205Arg) c.1102T>C (p.Trp368Arg) c.699T>C (p.Ser233=) c.448T>C (p.Trp150Arg) c.319+2207T>C c.1332T>C (p.Ser444=) | gnomAD v4 |
11 | g.71435605A>T | CA381701539 | DHCR7 | c.1198T>A (p.Trp400Arg) c.1024T>A (p.Trp342Arg) c.1249T>A (p.Trp417Arg) c.1234T>A (p.Trp412Arg) c.1206T>A (p.Ser402=) n.1238T>A c.613T>A (p.Trp205Arg) c.1102T>A (p.Trp368Arg) c.699T>A (p.Ser233=) c.448T>A (p.Trp150Arg) c.319+2207T>A c.1332T>A (p.Ser444=) | |
11 | g.71435606G>A | CA381701545 | DHCR7 | c.1197C>T (p.Phe399=) c.1023C>T (p.Phe341=) c.1248C>T (p.Phe416=) c.1233C>T (p.Phe411=) c.1205C>T (p.Ser402Phe) n.1237C>T c.612C>T (p.Phe204=) c.1101C>T (p.Phe367=) c.698C>T (p.Ser233Phe) c.447C>T (p.Phe149=) c.319+2206C>T c.1331C>T (p.Ser444Phe) | |
11 | g.71435606G>C | CA381701543 | DHCR7 | c.1197C>G (p.Phe399Leu) c.1023C>G (p.Phe341Leu) c.1248C>G (p.Phe416Leu) c.1233C>G (p.Phe411Leu) c.1205C>G (p.Ser402Cys) n.1237C>G c.612C>G (p.Phe204Leu) c.1101C>G (p.Phe367Leu) c.698C>G (p.Ser233Cys) c.447C>G (p.Phe149Leu) c.319+2206C>G c.1331C>G (p.Ser444Cys) | |
11 | g.71435606G>T | CA381701547 | DHCR7 | c.1197C>A (p.Phe399Leu) c.1023C>A (p.Phe341Leu) c.1248C>A (p.Phe416Leu) c.1233C>A (p.Phe411Leu) c.1205C>A (p.Ser402Tyr) n.1237C>A c.612C>A (p.Phe204Leu) c.1101C>A (p.Phe367Leu) c.698C>A (p.Ser233Tyr) c.447C>A (p.Phe149Leu) c.319+2206C>A c.1331C>A (p.Ser444Tyr) | |
11 | g.71435607A= | CA1981486912 | DHCR7 | c.1196T= (p.Phe399=) c.1022T= (p.Phe341=) c.1247T= (p.Phe416=) c.1232T= (p.Phe411=) c.1204T= (p.Ser402=) n.1236T= c.611T= (p.Phe204=) c.1100T= (p.Phe367=) c.697T= (p.Ser233=) c.446T= (p.Phe149=) c.319+2205T= c.1330T= (p.Ser444=) | |
11 | g.71435607A>C | CA381701548 | DHCR7 | c.1196T>G (p.Phe399Cys) c.1022T>G (p.Phe341Cys) c.1247T>G (p.Phe416Cys) c.1232T>G (p.Phe411Cys) c.1204T>G (p.Ser402Ala) n.1236T>G c.611T>G (p.Phe204Cys) c.1100T>G (p.Phe367Cys) c.697T>G (p.Ser233Ala) c.446T>G (p.Phe149Cys) c.319+2205T>G c.1330T>G (p.Ser444Ala) | |
11 | g.71435607A>G | CA381701550 | DHCR7 | c.1196T>C (p.Phe399Ser) c.1022T>C (p.Phe341Ser) c.1247T>C (p.Phe416Ser) c.1232T>C (p.Phe411Ser) c.1204T>C (p.Ser402Pro) n.1236T>C c.611T>C (p.Phe204Ser) c.1100T>C (p.Phe367Ser) c.697T>C (p.Ser233Pro) c.446T>C (p.Phe149Ser) c.319+2205T>C c.1330T>C (p.Ser444Pro) | |
11 | g.71435607A>T | CA381701551 | DHCR7 | c.1196T>A (p.Phe399Tyr) c.1022T>A (p.Phe341Tyr) c.1247T>A (p.Phe416Tyr) c.1232T>A (p.Phe411Tyr) c.1204T>A (p.Ser402Thr) n.1236T>A c.611T>A (p.Phe204Tyr) c.1100T>A (p.Phe367Tyr) c.697T>A (p.Ser233Thr) c.446T>A (p.Phe149Tyr) c.319+2205T>A c.1330T>A (p.Ser444Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435608A>C | CA381701553 | DHCR7 | c.1195T>G (p.Phe399Val) c.1021T>G (p.Phe341Val) c.1246T>G (p.Phe416Val) c.1231T>G (p.Phe411Val) c.1203T>G (p.Ala401=) n.1235T>G c.610T>G (p.Phe204Val) c.1099T>G (p.Phe367Val) c.696T>G (p.Ala232=) c.445T>G (p.Phe149Val) c.319+2204T>G c.1329T>G (p.Ala443=) | |
11 | g.71435608A>G | CA381701554 | DHCR7 | c.1195T>C (p.Phe399Leu) c.1021T>C (p.Phe341Leu) c.1246T>C (p.Phe416Leu) c.1231T>C (p.Phe411Leu) c.1203T>C (p.Ala401=) n.1235T>C c.610T>C (p.Phe204Leu) c.1099T>C (p.Phe367Leu) c.696T>C (p.Ala232=) c.445T>C (p.Phe149Leu) c.319+2204T>C c.1329T>C (p.Ala443=) | gnomAD v4 |
11 | g.71435608A>T | CA381701555 | DHCR7 | c.1195T>A (p.Phe399Ile) c.1021T>A (p.Phe341Ile) c.1246T>A (p.Phe416Ile) c.1231T>A (p.Phe411Ile) c.1203T>A (p.Ala401=) n.1235T>A c.610T>A (p.Phe204Ile) c.1099T>A (p.Phe367Ile) c.696T>A (p.Ala232=) c.445T>A (p.Phe149Ile) c.319+2204T>A c.1329T>A (p.Ala443=) | |
11 | g.71435609G>A | CA381701557 | DHCR7 | c.1194C>T (p.Gly398=) c.1020C>T (p.Gly340=) c.1245C>T (p.Gly415=) c.1230C>T (p.Gly410=) c.1202C>T (p.Ala401Val) n.1234C>T c.609C>T (p.Gly203=) c.1098C>T (p.Gly366=) c.695C>T (p.Ala232Val) c.444C>T (p.Gly148=) c.319+2203C>T c.1328C>T (p.Ala443Val) | ClinVar |
11 | g.71435609G>C | CA381701559 | DHCR7 | c.1194C>G (p.Gly398=) c.1020C>G (p.Gly340=) c.1245C>G (p.Gly415=) c.1230C>G (p.Gly410=) c.1202C>G (p.Ala401Gly) n.1234C>G c.609C>G (p.Gly203=) c.1098C>G (p.Gly366=) c.695C>G (p.Ala232Gly) c.444C>G (p.Gly148=) c.319+2203C>G c.1328C>G (p.Ala443Gly) | |
11 | g.71435609G>T | CA381701560 | DHCR7 | c.1194C>A (p.Gly398=) c.1020C>A (p.Gly340=) c.1245C>A (p.Gly415=) c.1230C>A (p.Gly410=) c.1202C>A (p.Ala401Asp) n.1234C>A c.609C>A (p.Gly203=) c.1098C>A (p.Gly366=) c.695C>A (p.Ala232Asp) c.444C>A (p.Gly148=) c.319+2203C>A c.1328C>A (p.Ala443Asp) | |
11 | g.71435609_71435610delinsGC | CA1981486913 | DHCR7 | c.1193_1194delinsGC (p.Gly398=) c.1019_1020delinsGC (p.Gly340=) c.1244_1245delinsGC (p.Gly415=) c.1229_1230delinsGC (p.Gly410=) c.1201_1202delinsGC (p.Ala401=) n.1233_1234delinsGC c.608_609delinsGC (p.Gly203=) c.1097_1098delinsGC (p.Gly366=) c.694_695delinsGC (p.Ala232=) c.443_444delinsGC (p.Gly148=) c.319+2202_319+2203delinsGC c.1327_1328delinsGC (p.Ala443=) | |
11 | g.71435610C>A | CA381701562 | DHCR7 | c.1193G>T (p.Gly398Val) c.1019G>T (p.Gly340Val) c.1244G>T (p.Gly415Val) c.1229G>T (p.Gly410Val) c.1201G>T (p.Ala401Ser) n.1233G>T c.608G>T (p.Gly203Val) c.1097G>T (p.Gly366Val) c.694G>T (p.Ala232Ser) c.443G>T (p.Gly148Val) c.319+2202G>T c.1327G>T (p.Ala443Ser) | |
11 | g.71435610C>G | CA381701564 | DHCR7 | c.1193G>C (p.Gly398Ala) c.1019G>C (p.Gly340Ala) c.1244G>C (p.Gly415Ala) c.1229G>C (p.Gly410Ala) c.1201G>C (p.Ala401Pro) n.1233G>C c.608G>C (p.Gly203Ala) c.1097G>C (p.Gly366Ala) c.694G>C (p.Ala232Pro) c.443G>C (p.Gly148Ala) c.319+2202G>C c.1327G>C (p.Ala443Pro) | |
11 | g.71435610C>T | CA381701565 | DHCR7 | c.1193G>A (p.Gly398Asp) c.1019G>A (p.Gly340Asp) c.1244G>A (p.Gly415Asp) c.1229G>A (p.Gly410Asp) c.1201G>A (p.Ala401Thr) n.1233G>A c.608G>A (p.Gly203Asp) c.1097G>A (p.Gly366Asp) c.694G>A (p.Ala232Thr) c.443G>A (p.Gly148Asp) c.319+2202G>A c.1327G>A (p.Ala443Thr) | gnomAD v4 |
11 | g.71435612del | CA939372022 | DHCR7 | c.1193del (p.Gly398AlafsTer15) c.1019del (p.Gly340AlafsTer15) c.1244del (p.Gly415AlafsTer15) c.1229del (p.Gly410AlafsTer15) c.1201del (p.Ala401LeufsTer?) n.1233del c.608del (p.Gly203AlafsTer15) c.1097del (p.Gly366AlafsTer15) c.694del (p.Ala232LeufsTer?) c.443del (p.Gly148AlafsTer15) c.319+2202del c.1327del (p.Ala443LeufsTer?) | ClinVar dbSNP |
11 | g.71435611C>A | CA381701570 | DHCR7 | c.1192G>T (p.Gly398Cys) c.1018G>T (p.Gly340Cys) c.1243G>T (p.Gly415Cys) c.1228G>T (p.Gly410Cys) c.1200G>T (p.Arg400=) n.1232G>T c.607G>T (p.Gly203Cys) c.1096G>T (p.Gly366Cys) c.693G>T (p.Arg231=) c.442G>T (p.Gly148Cys) c.319+2201G>T c.1326G>T (p.Arg442=) | |
11 | g.71435611C>G | CA381701568 | DHCR7 | c.1192G>C (p.Gly398Arg) c.1018G>C (p.Gly340Arg) c.1243G>C (p.Gly415Arg) c.1228G>C (p.Gly410Arg) c.1200G>C (p.Arg400=) n.1232G>C c.607G>C (p.Gly203Arg) c.1096G>C (p.Gly366Arg) c.693G>C (p.Arg231=) c.442G>C (p.Gly148Arg) c.319+2201G>C c.1326G>C (p.Arg442=) | |
11 | g.71435611C>T | CA381701567 | DHCR7 | c.1192G>A (p.Gly398Ser) c.1018G>A (p.Gly340Ser) c.1243G>A (p.Gly415Ser) c.1228G>A (p.Gly410Ser) c.1200G>A (p.Arg400=) n.1232G>A c.607G>A (p.Gly203Ser) c.1096G>A (p.Gly366Ser) c.693G>A (p.Arg231=) c.442G>A (p.Gly148Ser) c.319+2201G>A c.1326G>A (p.Arg442=) | gnomAD v4 |
11 | g.71435612C>A | CA381701572 | DHCR7 | c.1191G>T (p.Ser397=) c.1017G>T (p.Ser339=) c.1242G>T (p.Ser414=) c.1227G>T (p.Ser409=) c.1199G>T (p.Arg400Leu) n.1231G>T c.606G>T (p.Ser202=) c.1095G>T (p.Ser365=) c.692G>T (p.Arg231Leu) c.441G>T (p.Ser147=) c.319+2200G>T c.1325G>T (p.Arg442Leu) | |
11 | g.71435612C= | CA1981486914 | DHCR7 | c.1191G= (p.Ser397=) c.1017G= (p.Ser339=) c.1242G= (p.Ser414=) c.1227G= (p.Ser409=) c.1199G= (p.Arg400=) n.1231G= c.606G= (p.Ser202=) c.1095G= (p.Ser365=) c.692G= (p.Arg231=) c.441G= (p.Ser147=) c.319+2200G= c.1325G= (p.Arg442=) | |
11 | g.71435612C>G | CA381701573 | DHCR7 | c.1191G>C (p.Ser397=) c.1017G>C (p.Ser339=) c.1242G>C (p.Ser414=) c.1227G>C (p.Ser409=) c.1199G>C (p.Arg400Pro) n.1231G>C c.606G>C (p.Ser202=) c.1095G>C (p.Ser365=) c.692G>C (p.Arg231Pro) c.441G>C (p.Ser147=) c.319+2200G>C c.1325G>C (p.Arg442Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.71435612C>T | CA6162290 | DHCR7 | c.1191G>A (p.Ser397=) c.1017G>A (p.Ser339=) c.1242G>A (p.Ser414=) c.1227G>A (p.Ser409=) c.1199G>A (p.Arg400Gln) n.1231G>A c.606G>A (p.Ser202=) c.1095G>A (p.Ser365=) c.692G>A (p.Arg231Gln) c.441G>A (p.Ser147=) c.319+2200G>A c.1325G>A (p.Arg442Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435613G>A | CA6162291 | DHCR7 | c.1190C>T (p.Ser397Leu) c.1016C>T (p.Ser339Leu) c.1241C>T (p.Ser414Leu) c.1226C>T (p.Ser409Leu) c.1198C>T (p.Arg400Trp) n.1230C>T c.605C>T (p.Ser202Leu) c.1094C>T (p.Ser365Leu) c.691C>T (p.Arg231Trp) c.440C>T (p.Ser147Leu) c.319+2199C>T c.1324C>T (p.Arg442Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435613G>C | CA381701579 | DHCR7 | c.1190C>G (p.Ser397Trp) c.1016C>G (p.Ser339Trp) c.1241C>G (p.Ser414Trp) c.1226C>G (p.Ser409Trp) c.1198C>G (p.Arg400Gly) n.1230C>G c.605C>G (p.Ser202Trp) c.1094C>G (p.Ser365Trp) c.691C>G (p.Arg231Gly) c.440C>G (p.Ser147Trp) c.319+2199C>G c.1324C>G (p.Arg442Gly) | |
11 | g.71435613G= | CA1981486915 | DHCR7 | c.1190C= (p.Ser397=) c.1016C= (p.Ser339=) c.1241C= (p.Ser414=) c.1226C= (p.Ser409=) c.1198C= (p.Arg400=) n.1230C= c.605C= (p.Ser202=) c.1094C= (p.Ser365=) c.691C= (p.Arg231=) c.440C= (p.Ser147=) c.319+2199C= c.1324C= (p.Arg442=) | |
11 | g.71435613G>T | CA381701580 | DHCR7 | c.1190C>A (p.Ser397Ter) c.1016C>A (p.Ser339Ter) c.1241C>A (p.Ser414Ter) c.1226C>A (p.Ser409Ter) c.1198C>A (p.Arg400=) n.1230C>A c.605C>A (p.Ser202Ter) c.1094C>A (p.Ser365Ter) c.691C>A (p.Arg231=) c.440C>A (p.Ser147Ter) c.319+2199C>A c.1324C>A (p.Arg442=) | gnomAD v4 |
11 | g.71435614A>C | CA381701581 | DHCR7 | c.1189T>G (p.Ser397Ala) c.1015T>G (p.Ser339Ala) c.1240T>G (p.Ser414Ala) c.1225T>G (p.Ser409Ala) c.1197T>G (p.Cys399Trp) n.1229T>G c.604T>G (p.Ser202Ala) c.1093T>G (p.Ser365Ala) c.690T>G (p.Cys230Trp) c.439T>G (p.Ser147Ala) c.319+2198T>G c.1323T>G (p.Cys441Trp) | |
11 | g.71435614A>G | CA381701582 | DHCR7 | c.1189T>C (p.Ser397Pro) c.1015T>C (p.Ser339Pro) c.1240T>C (p.Ser414Pro) c.1225T>C (p.Ser409Pro) c.1197T>C (p.Cys399=) n.1229T>C c.604T>C (p.Ser202Pro) c.1093T>C (p.Ser365Pro) c.690T>C (p.Cys230=) c.439T>C (p.Ser147Pro) c.319+2198T>C c.1323T>C (p.Cys441=) | |
11 | g.71435614A>T | CA381701583 | DHCR7 | c.1189T>A (p.Ser397Thr) c.1015T>A (p.Ser339Thr) c.1240T>A (p.Ser414Thr) c.1225T>A (p.Ser409Thr) c.1197T>A (p.Cys399Ter) n.1229T>A c.604T>A (p.Ser202Thr) c.1093T>A (p.Ser365Thr) c.690T>A (p.Cys230Ter) c.439T>A (p.Ser147Thr) c.319+2198T>A c.1323T>A (p.Cys441Ter) | |
11 | g.71435615C>A | CA381701584 | DHCR7 | c.1188G>T (p.Val396=) c.1014G>T (p.Val338=) c.1239G>T (p.Val413=) c.1224G>T (p.Val408=) c.1196G>T (p.Cys399Phe) n.1228G>T c.603G>T (p.Val201=) c.1092G>T (p.Val364=) c.689G>T (p.Cys230Phe) c.438G>T (p.Val146=) c.319+2197G>T c.1322G>T (p.Cys441Phe) | gnomAD v4 |
11 | g.71435615C= | CA1981486916 | DHCR7 | c.1188G= (p.Val396=) c.1014G= (p.Val338=) c.1239G= (p.Val413=) c.1224G= (p.Val408=) c.1196G= (p.Cys399=) n.1228G= c.603G= (p.Val201=) c.1092G= (p.Val364=) c.689G= (p.Cys230=) c.438G= (p.Val146=) c.319+2197G= c.1322G= (p.Cys441=) | |
11 | g.71435615C>G | CA381701585 | DHCR7 | c.1188G>C (p.Val396=) c.1014G>C (p.Val338=) c.1239G>C (p.Val413=) c.1224G>C (p.Val408=) c.1196G>C (p.Cys399Ser) n.1228G>C c.603G>C (p.Val201=) c.1092G>C (p.Val364=) c.689G>C (p.Cys230Ser) c.438G>C (p.Val146=) c.319+2197G>C c.1322G>C (p.Cys441Ser) | |
11 | g.71435615C>T | CA381701586 | DHCR7 | c.1188G>A (p.Val396=) c.1014G>A (p.Val338=) c.1239G>A (p.Val413=) c.1224G>A (p.Val408=) c.1196G>A (p.Cys399Tyr) n.1228G>A c.603G>A (p.Val201=) c.1092G>A (p.Val364=) c.689G>A (p.Cys230Tyr) c.438G>A (p.Val146=) c.319+2197G>A c.1322G>A (p.Cys441Tyr) | ClinVar dbSNP gnomAD v4 |
11 | g.71435617_71435619dup | CA2614857185 | DHCR7 | c.1186_1188dup (p.Val396_Ser397insVal) c.1012_1014dup (p.Val338_Ser339insVal) c.1237_1239dup (p.Val413_Ser414insVal) c.1222_1224dup (p.Val408_Ser409insVal) c.1194_1196dup (p.Trp398_Cys399insTrp) n.1226_1228dup c.601_603dup (p.Val201_Ser202insVal) c.1090_1092dup (p.Val364_Ser365insVal) c.687_689dup (p.Trp229_Cys230insTrp) c.436_438dup (p.Val146_Ser147insVal) c.319+2195_319+2197dup c.1320_1322dup (p.Trp440_Cys441insTrp) | gnomAD v4 |
11 | g.71435616A= | CA1981486917 | DHCR7 | c.1187T= (p.Val396=) c.1013T= (p.Val338=) c.1238T= (p.Val413=) c.1223T= (p.Val408=) c.1195T= (p.Cys399=) n.1227T= c.602T= (p.Val201=) c.1091T= (p.Val364=) c.688T= (p.Cys230=) c.437T= (p.Val146=) c.319+2196T= c.1321T= (p.Cys441=) | |
11 | g.71435616A>C | CA381701590 | DHCR7 | c.1187T>G (p.Val396Gly) c.1013T>G (p.Val338Gly) c.1238T>G (p.Val413Gly) c.1223T>G (p.Val408Gly) c.1195T>G (p.Cys399Gly) n.1227T>G c.602T>G (p.Val201Gly) c.1091T>G (p.Val364Gly) c.688T>G (p.Cys230Gly) c.437T>G (p.Val146Gly) c.319+2196T>G c.1321T>G (p.Cys441Gly) | |
11 | g.71435616A>G | CA381701588 | DHCR7 | c.1187T>C (p.Val396Ala) c.1013T>C (p.Val338Ala) c.1238T>C (p.Val413Ala) c.1223T>C (p.Val408Ala) c.1195T>C (p.Cys399Arg) n.1227T>C c.602T>C (p.Val201Ala) c.1091T>C (p.Val364Ala) c.688T>C (p.Cys230Arg) c.437T>C (p.Val146Ala) c.319+2196T>C c.1321T>C (p.Cys441Arg) | |
11 | g.71435616A>T | CA6162292 | DHCR7 | c.1187T>A (p.Val396Glu) c.1013T>A (p.Val338Glu) c.1238T>A (p.Val413Glu) c.1223T>A (p.Val408Glu) c.1195T>A (p.Cys399Ser) n.1227T>A c.602T>A (p.Val201Glu) c.1091T>A (p.Val364Glu) c.688T>A (p.Cys230Ser) c.437T>A (p.Val146Glu) c.319+2196T>A c.1321T>A (p.Cys441Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435617C>A | CA381701593 | DHCR7 | c.1186G>T (p.Val396Leu) c.1012G>T (p.Val338Leu) c.1237G>T (p.Val413Leu) c.1222G>T (p.Val408Leu) c.1194G>T (p.Trp398Cys) n.1226G>T c.601G>T (p.Val201Leu) c.1090G>T (p.Val364Leu) c.687G>T (p.Trp229Cys) c.436G>T (p.Val146Leu) c.319+2195G>T c.1320G>T (p.Trp440Cys) | |
11 | g.71435617C= | CA1981486918 | DHCR7 | c.1186G= (p.Val396=) c.1012G= (p.Val338=) c.1237G= (p.Val413=) c.1222G= (p.Val408=) c.1194G= (p.Trp398=) n.1226G= c.601G= (p.Val201=) c.1090G= (p.Val364=) c.687G= (p.Trp229=) c.436G= (p.Val146=) c.319+2195G= c.1320G= (p.Trp440=) | |
11 | g.71435617C>G | CA381701594 | DHCR7 | c.1186G>C (p.Val396Leu) c.1012G>C (p.Val338Leu) c.1237G>C (p.Val413Leu) c.1222G>C (p.Val408Leu) c.1194G>C (p.Trp398Cys) n.1226G>C c.601G>C (p.Val201Leu) c.1090G>C (p.Val364Leu) c.687G>C (p.Trp229Cys) c.436G>C (p.Val146Leu) c.319+2195G>C c.1320G>C (p.Trp440Cys) | |
11 | g.71435617C>T | CA224324272 | DHCR7 | c.1186G>A (p.Val396Met) c.1012G>A (p.Val338Met) c.1237G>A (p.Val413Met) c.1222G>A (p.Val408Met) c.1194G>A (p.Trp398Ter) n.1226G>A c.601G>A (p.Val201Met) c.1090G>A (p.Val364Met) c.687G>A (p.Trp229Ter) c.436G>A (p.Val146Met) c.319+2195G>A c.1320G>A (p.Trp440Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435618C>A | CA381701597 | DHCR7 | c.1185G>T (p.Leu395=) c.1011G>T (p.Leu337=) c.1236G>T (p.Leu412=) c.1221G>T (p.Leu407=) c.1193G>T (p.Trp398Leu) n.1225G>T c.600G>T (p.Leu200=) c.1089G>T (p.Leu363=) c.686G>T (p.Trp229Leu) c.435G>T (p.Leu145=) c.319+2194G>T c.1319G>T (p.Trp440Leu) | |
11 | g.71435618C>G | CA381701599 | DHCR7 | c.1185G>C (p.Leu395=) c.1011G>C (p.Leu337=) c.1236G>C (p.Leu412=) c.1221G>C (p.Leu407=) c.1193G>C (p.Trp398Ser) n.1225G>C c.600G>C (p.Leu200=) c.1089G>C (p.Leu363=) c.686G>C (p.Trp229Ser) c.435G>C (p.Leu145=) c.319+2194G>C c.1319G>C (p.Trp440Ser) | |
11 | g.71435618C>T | CA381701601 | DHCR7 | c.1185G>A (p.Leu395=) c.1011G>A (p.Leu337=) c.1236G>A (p.Leu412=) c.1221G>A (p.Leu407=) c.1193G>A (p.Trp398Ter) n.1225G>A c.600G>A (p.Leu200=) c.1089G>A (p.Leu363=) c.686G>A (p.Trp229Ter) c.435G>A (p.Leu145=) c.319+2194G>A c.1319G>A (p.Trp440Ter) | |
11 | g.71435619A= | CA1981486919 | DHCR7 | c.1184T= (p.Leu395=) c.1010T= (p.Leu337=) c.1235T= (p.Leu412=) c.1220T= (p.Leu407=) c.1192T= (p.Trp398=) n.1224T= c.599T= (p.Leu200=) c.1088T= (p.Leu363=) c.685T= (p.Trp229=) c.434T= (p.Leu145=) c.319+2193T= c.1318T= (p.Trp440=) | |
11 | g.71435619A>C | CA381701610 | DHCR7 | c.1184T>G (p.Leu395Arg) c.1010T>G (p.Leu337Arg) c.1235T>G (p.Leu412Arg) c.1220T>G (p.Leu407Arg) c.1192T>G (p.Trp398Gly) n.1224T>G c.599T>G (p.Leu200Arg) c.1088T>G (p.Leu363Arg) c.685T>G (p.Trp229Gly) c.434T>G (p.Leu145Arg) c.319+2193T>G c.1318T>G (p.Trp440Gly) | |
11 | g.71435619A>G | CA381701604 | DHCR7 | c.1184T>C (p.Leu395Pro) c.1010T>C (p.Leu337Pro) c.1235T>C (p.Leu412Pro) c.1220T>C (p.Leu407Pro) c.1192T>C (p.Trp398Arg) n.1224T>C c.599T>C (p.Leu200Pro) c.1088T>C (p.Leu363Pro) c.685T>C (p.Trp229Arg) c.434T>C (p.Leu145Pro) c.319+2193T>C c.1318T>C (p.Trp440Arg) | gnomAD v4 |
11 | g.71435619A>T | CA381701608 | DHCR7 | c.1184T>A (p.Leu395Gln) c.1010T>A (p.Leu337Gln) c.1235T>A (p.Leu412Gln) c.1220T>A (p.Leu407Gln) c.1192T>A (p.Trp398Arg) n.1224T>A c.599T>A (p.Leu200Gln) c.1088T>A (p.Leu363Gln) c.685T>A (p.Trp229Arg) c.434T>A (p.Leu145Gln) c.319+2193T>A c.1318T>A (p.Trp440Arg) | |
11 | g.71435619_71435620insC | CA600241191 | DHCR7 | c.1183_1184insG (p.Leu395ArgfsTer?) c.1009_1010insG (p.Leu337ArgfsTer?) c.1234_1235insG (p.Leu412ArgfsTer?) c.1219_1220insG (p.Leu407ArgfsTer?) c.1191_1192insG (p.Trp398ValfsTer?) n.1223_1224insG c.598_599insG (p.Leu200ArgfsTer?) c.1087_1088insG (p.Leu363ArgfsTer?) c.684_685insG (p.Trp229ValfsTer?) c.433_434insG (p.Leu145ArgfsTer?) c.319+2192_319+2193insG c.1317_1318insG (p.Trp440ValfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435620G>A | CA475861081 | DHCR7 | c.1183C>T (p.Leu395=) c.1009C>T (p.Leu337=) c.1234C>T (p.Leu412=) c.1219C>T (p.Leu407=) c.1191C>T (p.Cys397=) n.1223C>T c.598C>T (p.Leu200=) c.1087C>T (p.Leu363=) c.684C>T (p.Cys228=) c.433C>T (p.Leu145=) c.319+2192C>T c.1317C>T (p.Cys439=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435620G>C | CA381701612 | DHCR7 | c.1183C>G (p.Leu395Val) c.1009C>G (p.Leu337Val) c.1234C>G (p.Leu412Val) c.1219C>G (p.Leu407Val) c.1191C>G (p.Cys397Trp) n.1223C>G c.598C>G (p.Leu200Val) c.1087C>G (p.Leu363Val) c.684C>G (p.Cys228Trp) c.433C>G (p.Leu145Val) c.319+2192C>G c.1317C>G (p.Cys439Trp) | |
11 | g.71435620G= | CA1981486920 | DHCR7 | c.1183C= (p.Leu395=) c.1009C= (p.Leu337=) c.1234C= (p.Leu412=) c.1219C= (p.Leu407=) c.1191C= (p.Cys397=) n.1223C= c.598C= (p.Leu200=) c.1087C= (p.Leu363=) c.684C= (p.Cys228=) c.433C= (p.Leu145=) c.319+2192C= c.1317C= (p.Cys439=) | |
11 | g.71435620G>T | CA381701614 | DHCR7 | c.1183C>A (p.Leu395Met) c.1009C>A (p.Leu337Met) c.1234C>A (p.Leu412Met) c.1219C>A (p.Leu407Met) c.1191C>A (p.Cys397Ter) n.1223C>A c.598C>A (p.Leu200Met) c.1087C>A (p.Leu363Met) c.684C>A (p.Cys228Ter) c.433C>A (p.Leu145Met) c.319+2192C>A c.1317C>A (p.Cys439Ter) | |
11 | g.71435621C>A | CA381701617 | DHCR7 | c.1182G>T (p.Leu394=) c.1008G>T (p.Leu336=) c.1233G>T (p.Leu411=) c.1218G>T (p.Leu406=) c.1190G>T (p.Cys397Phe) n.1222G>T c.597G>T (p.Leu199=) c.1086G>T (p.Leu362=) c.683G>T (p.Cys228Phe) c.432G>T (p.Leu144=) c.319+2191G>T c.1316G>T (p.Cys439Phe) | |
11 | g.71435621C>G | CA381701618 | DHCR7 | c.1182G>C (p.Leu394=) c.1008G>C (p.Leu336=) c.1233G>C (p.Leu411=) c.1218G>C (p.Leu406=) c.1190G>C (p.Cys397Ser) n.1222G>C c.597G>C (p.Leu199=) c.1086G>C (p.Leu362=) c.683G>C (p.Cys228Ser) c.432G>C (p.Leu144=) c.319+2191G>C c.1316G>C (p.Cys439Ser) | |
11 | g.71435621C>T | CA381701620 | DHCR7 | c.1182G>A (p.Leu394=) c.1008G>A (p.Leu336=) c.1233G>A (p.Leu411=) c.1218G>A (p.Leu406=) c.1190G>A (p.Cys397Tyr) n.1222G>A c.597G>A (p.Leu199=) c.1086G>A (p.Leu362=) c.683G>A (p.Cys228Tyr) c.432G>A (p.Leu144=) c.319+2191G>A c.1316G>A (p.Cys439Tyr) | ClinVar dbSNP |
11 | g.71435622A>C | CA381701623 | DHCR7 | c.1181T>G (p.Leu394Arg) c.1007T>G (p.Leu336Arg) c.1232T>G (p.Leu411Arg) c.1217T>G (p.Leu406Arg) c.1189T>G (p.Cys397Gly) n.1221T>G c.596T>G (p.Leu199Arg) c.1085T>G (p.Leu362Arg) c.682T>G (p.Cys228Gly) c.431T>G (p.Leu144Arg) c.319+2190T>G c.1315T>G (p.Cys439Gly) | |
11 | g.71435622A>G | CA381701626 | DHCR7 | c.1181T>C (p.Leu394Pro) c.1007T>C (p.Leu336Pro) c.1232T>C (p.Leu411Pro) c.1217T>C (p.Leu406Pro) c.1189T>C (p.Cys397Arg) n.1221T>C c.596T>C (p.Leu199Pro) c.1085T>C (p.Leu362Pro) c.682T>C (p.Cys228Arg) c.431T>C (p.Leu144Pro) c.319+2190T>C c.1315T>C (p.Cys439Arg) | |
11 | g.71435622A>T | CA381701624 | DHCR7 | c.1181T>A (p.Leu394Gln) c.1007T>A (p.Leu336Gln) c.1232T>A (p.Leu411Gln) c.1217T>A (p.Leu406Gln) c.1189T>A (p.Cys397Ser) n.1221T>A c.596T>A (p.Leu199Gln) c.1085T>A (p.Leu362Gln) c.682T>A (p.Cys228Ser) c.431T>A (p.Leu144Gln) c.319+2190T>A c.1315T>A (p.Cys439Ser) | |
11 | g.71435623G>A | CA475861085 | DHCR7 | c.1180C>T (p.Leu394=) c.1006C>T (p.Leu336=) c.1231C>T (p.Leu411=) c.1216C>T (p.Leu406=) c.1188C>T (p.Ser396=) n.1220C>T c.595C>T (p.Leu199=) c.1084C>T (p.Leu362=) c.681C>T (p.Ser227=) c.430C>T (p.Leu144=) c.319+2189C>T c.1314C>T (p.Ser438=) | |
11 | g.71435623G>C | CA381701628 | DHCR7 | c.1180C>G (p.Leu394Val) c.1006C>G (p.Leu336Val) c.1231C>G (p.Leu411Val) c.1216C>G (p.Leu406Val) c.1188C>G (p.Ser396Arg) n.1220C>G c.595C>G (p.Leu199Val) c.1084C>G (p.Leu362Val) c.681C>G (p.Ser227Arg) c.430C>G (p.Leu144Val) c.319+2189C>G c.1314C>G (p.Ser438Arg) | gnomAD v4 |
11 | g.71435623G>T | CA381701633 | DHCR7 | c.1180C>A (p.Leu394Met) c.1006C>A (p.Leu336Met) c.1231C>A (p.Leu411Met) c.1216C>A (p.Leu406Met) c.1188C>A (p.Ser396Arg) n.1220C>A c.595C>A (p.Leu199Met) c.1084C>A (p.Leu362Met) c.681C>A (p.Ser227Arg) c.430C>A (p.Leu144Met) c.319+2189C>A c.1314C>A (p.Ser438Arg) | |
11 | g.71435624C>A | CA381701635 | DHCR7 | c.1179G>T (p.Lys393Asn) c.1005G>T (p.Lys335Asn) c.1230G>T (p.Lys410Asn) c.1215G>T (p.Lys405Asn) c.1187G>T (p.Ser396Ile) n.1219G>T c.594G>T (p.Lys198Asn) c.1083G>T (p.Lys361Asn) c.680G>T (p.Ser227Ile) c.429G>T (p.Lys143Asn) c.319+2188G>T c.1313G>T (p.Ser438Ile) | |
11 | g.71435624C= | CA1981486921 | DHCR7 | c.1179G= (p.Lys393=) c.1005G= (p.Lys335=) c.1230G= (p.Lys410=) c.1215G= (p.Lys405=) c.1187G= (p.Ser396=) n.1219G= c.594G= (p.Lys198=) c.1083G= (p.Lys361=) c.680G= (p.Ser227=) c.429G= (p.Lys143=) c.319+2188G= c.1313G= (p.Ser438=) | |
11 | g.71435624C>G | CA381701636 | DHCR7 | c.1179G>C (p.Lys393Asn) c.1005G>C (p.Lys335Asn) c.1230G>C (p.Lys410Asn) c.1215G>C (p.Lys405Asn) c.1187G>C (p.Ser396Thr) n.1219G>C c.594G>C (p.Lys198Asn) c.1083G>C (p.Lys361Asn) c.680G>C (p.Ser227Thr) c.429G>C (p.Lys143Asn) c.319+2188G>C c.1313G>C (p.Ser438Thr) | |
11 | g.71435624C>T | CA381701637 | DHCR7 | c.1179G>A (p.Lys393=) c.1005G>A (p.Lys335=) c.1230G>A (p.Lys410=) c.1215G>A (p.Lys405=) c.1187G>A (p.Ser396Asn) n.1219G>A c.594G>A (p.Lys198=) c.1083G>A (p.Lys361=) c.680G>A (p.Ser227Asn) c.429G>A (p.Lys143=) c.319+2188G>A c.1313G>A (p.Ser438Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435625T>A | CA381701639 | DHCR7 | c.1178A>T (p.Lys393Met) c.1004A>T (p.Lys335Met) c.1229A>T (p.Lys410Met) c.1214A>T (p.Lys405Met) c.1186A>T (p.Ser396Cys) n.1218A>T c.593A>T (p.Lys198Met) c.1082A>T (p.Lys361Met) c.679A>T (p.Ser227Cys) c.428A>T (p.Lys143Met) c.319+2187A>T c.1312A>T (p.Ser438Cys) | |
11 | g.71435625T>C | CA381701640 | DHCR7 | c.1178A>G (p.Lys393Arg) c.1004A>G (p.Lys335Arg) c.1229A>G (p.Lys410Arg) c.1214A>G (p.Lys405Arg) c.1186A>G (p.Ser396Gly) n.1218A>G c.593A>G (p.Lys198Arg) c.1082A>G (p.Lys361Arg) c.679A>G (p.Ser227Gly) c.428A>G (p.Lys143Arg) c.319+2187A>G c.1312A>G (p.Ser438Gly) | |
11 | g.71435625T>G | CA381701642 | DHCR7 | c.1178A>C (p.Lys393Thr) c.1004A>C (p.Lys335Thr) c.1229A>C (p.Lys410Thr) c.1214A>C (p.Lys405Thr) c.1186A>C (p.Ser396Arg) n.1218A>C c.593A>C (p.Lys198Thr) c.1082A>C (p.Lys361Thr) c.679A>C (p.Ser227Arg) c.428A>C (p.Lys143Thr) c.319+2187A>C c.1312A>C (p.Ser438Arg) | |
11 | g.71435626T>A | CA381701650 | DHCR7 | c.1177A>T (p.Lys393Ter) c.1003A>T (p.Lys335Ter) c.1228A>T (p.Lys410Ter) c.1213A>T (p.Lys405Ter) c.1185A>T (p.Ala395=) n.1217A>T c.592A>T (p.Lys198Ter) c.1081A>T (p.Lys361Ter) c.678A>T (p.Ala226=) c.427A>T (p.Lys143Ter) c.319+2186A>T c.1311A>T (p.Ala437=) | |
11 | g.71435626T>C | CA381701652 | DHCR7 | c.1177A>G (p.Lys393Glu) c.1003A>G (p.Lys335Glu) c.1228A>G (p.Lys410Glu) c.1213A>G (p.Lys405Glu) c.1185A>G (p.Ala395=) n.1217A>G c.592A>G (p.Lys198Glu) c.1081A>G (p.Lys361Glu) c.678A>G (p.Ala226=) c.427A>G (p.Lys143Glu) c.319+2186A>G c.1311A>G (p.Ala437=) | |
11 | g.71435626T>G | CA381701654 | DHCR7 | c.1177A>C (p.Lys393Gln) c.1003A>C (p.Lys335Gln) c.1228A>C (p.Lys410Gln) c.1213A>C (p.Lys405Gln) c.1185A>C (p.Ala395=) n.1217A>C c.592A>C (p.Lys198Gln) c.1081A>C (p.Lys361Gln) c.678A>C (p.Ala226=) c.427A>C (p.Lys143Gln) c.319+2186A>C c.1311A>C (p.Ala437=) | |
11 | g.71435627G>A | CA381701659 | DHCR7 | c.1176C>T (p.Ser392=) c.1002C>T (p.Ser334=) c.1227C>T (p.Ser409=) c.1212C>T (p.Ser404=) c.1184C>T (p.Ala395Val) n.1216C>T c.591C>T (p.Ser197=) c.1080C>T (p.Ser360=) c.677C>T (p.Ala226Val) c.426C>T (p.Ser142=) c.319+2185C>T c.1310C>T (p.Ala437Val) | ClinVar |
11 | g.71435627G>C | CA381701657 | DHCR7 | c.1176C>G (p.Ser392Arg) c.1002C>G (p.Ser334Arg) c.1227C>G (p.Ser409Arg) c.1212C>G (p.Ser404Arg) c.1184C>G (p.Ala395Gly) n.1216C>G c.591C>G (p.Ser197Arg) c.1080C>G (p.Ser360Arg) c.677C>G (p.Ala226Gly) c.426C>G (p.Ser142Arg) c.319+2185C>G c.1310C>G (p.Ala437Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435627G= | CA1981486922 | DHCR7 | c.1176C= (p.Ser392=) c.1002C= (p.Ser334=) c.1227C= (p.Ser409=) c.1212C= (p.Ser404=) c.1184C= (p.Ala395=) n.1216C= c.591C= (p.Ser197=) c.1080C= (p.Ser360=) c.677C= (p.Ala226=) c.426C= (p.Ser142=) c.319+2185C= c.1310C= (p.Ala437=) | |
11 | g.71435627G>T | CA381701656 | DHCR7 | c.1176C>A (p.Ser392Arg) c.1002C>A (p.Ser334Arg) c.1227C>A (p.Ser409Arg) c.1212C>A (p.Ser404Arg) c.1184C>A (p.Ala395Glu) n.1216C>A c.591C>A (p.Ser197Arg) c.1080C>A (p.Ser360Arg) c.677C>A (p.Ala226Glu) c.426C>A (p.Ser142Arg) c.319+2185C>A c.1310C>A (p.Ala437Glu) | |
11 | g.71435627_71435628delinsGC | CA1981486923 | DHCR7 | c.1175_1176delinsGC (p.Ser392=) c.1001_1002delinsGC (p.Ser334=) c.1226_1227delinsGC (p.Ser409=) c.1211_1212delinsGC (p.Ser404=) c.1183_1184delinsGC (p.Ala395=) n.1215_1216delinsGC c.590_591delinsGC (p.Ser197=) c.1079_1080delinsGC (p.Ser360=) c.676_677delinsGC (p.Ala226=) c.425_426delinsGC (p.Ser142=) c.319+2184_319+2185delinsGC c.1309_1310delinsGC (p.Ala437=) | |
11 | g.71435628del | CA679810848 | DHCR7 | c.1175del (p.Ser392ThrfsTer21) c.1001del (p.Ser334ThrfsTer21) c.1226del (p.Ser409ThrfsTer21) c.1211del (p.Ser404ThrfsTer21) c.1183del (p.Ala395GlnfsTer?) n.1215del c.590del (p.Ser197ThrfsTer21) c.1079del (p.Ser360ThrfsTer21) c.676del (p.Ala226GlnfsTer?) c.425del (p.Ser142ThrfsTer21) c.319+2184del c.1309del (p.Ala437GlnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435628C>A | CA381701662 | DHCR7 | c.1175G>T (p.Ser392Ile) c.1001G>T (p.Ser334Ile) c.1226G>T (p.Ser409Ile) c.1211G>T (p.Ser404Ile) c.1183G>T (p.Ala395Ser) n.1215G>T c.590G>T (p.Ser197Ile) c.1079G>T (p.Ser360Ile) c.676G>T (p.Ala226Ser) c.425G>T (p.Ser142Ile) c.319+2184G>T c.1309G>T (p.Ala437Ser) | |
11 | g.71435628C>G | CA381701661 | DHCR7 | c.1175G>C (p.Ser392Thr) c.1001G>C (p.Ser334Thr) c.1226G>C (p.Ser409Thr) c.1211G>C (p.Ser404Thr) c.1183G>C (p.Ala395Pro) n.1215G>C c.590G>C (p.Ser197Thr) c.1079G>C (p.Ser360Thr) c.676G>C (p.Ala226Pro) c.425G>C (p.Ser142Thr) c.319+2184G>C c.1309G>C (p.Ala437Pro) | |
11 | g.71435628C>T | CA381701664 | DHCR7 | c.1175G>A (p.Ser392Asn) c.1001G>A (p.Ser334Asn) c.1226G>A (p.Ser409Asn) c.1211G>A (p.Ser404Asn) c.1183G>A (p.Ala395Thr) n.1215G>A c.590G>A (p.Ser197Asn) c.1079G>A (p.Ser360Asn) c.676G>A (p.Ala226Thr) c.425G>A (p.Ser142Asn) c.319+2184G>A c.1309G>A (p.Ala437Thr) | |
11 | g.71435629T>A | CA381701666 | DHCR7 | c.1174A>T (p.Ser392Cys) c.1000A>T (p.Ser334Cys) c.1225A>T (p.Ser409Cys) c.1210A>T (p.Ser404Cys) c.1182A>T (p.Thr394=) n.1214A>T c.589A>T (p.Ser197Cys) c.1078A>T (p.Ser360Cys) c.675A>T (p.Thr225=) c.424A>T (p.Ser142Cys) c.319+2183A>T c.1308A>T (p.Thr436=) | |
11 | g.71435629T>C | CA381701668 | DHCR7 | c.1174A>G (p.Ser392Gly) c.1000A>G (p.Ser334Gly) c.1225A>G (p.Ser409Gly) c.1210A>G (p.Ser404Gly) c.1182A>G (p.Thr394=) n.1214A>G c.589A>G (p.Ser197Gly) c.1078A>G (p.Ser360Gly) c.675A>G (p.Thr225=) c.424A>G (p.Ser142Gly) c.319+2183A>G c.1308A>G (p.Thr436=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435629T>G | CA381701670 | DHCR7 | c.1174A>C (p.Ser392Arg) c.1000A>C (p.Ser334Arg) c.1225A>C (p.Ser409Arg) c.1210A>C (p.Ser404Arg) c.1182A>C (p.Thr394=) n.1214A>C c.589A>C (p.Ser197Arg) c.1078A>C (p.Ser360Arg) c.675A>C (p.Thr225=) c.424A>C (p.Ser142Arg) c.319+2183A>C c.1308A>C (p.Thr436=) | |
11 | g.71435629T= | CA1981486924 | DHCR7 | c.1174A= (p.Ser392=) c.1000A= (p.Ser334=) c.1225A= (p.Ser409=) c.1210A= (p.Ser404=) c.1182A= (p.Thr394=) n.1214A= c.589A= (p.Ser197=) c.1078A= (p.Ser360=) c.675A= (p.Thr225=) c.424A= (p.Ser142=) c.319+2183A= c.1308A= (p.Thr436=) | |
11 | g.71435630G>A | CA381701672 | DHCR7 | c.1173C>T (p.His391=) c.999C>T (p.His333=) c.1224C>T (p.His408=) c.1209C>T (p.His403=) c.1181C>T (p.Thr394Ile) n.1213C>T c.588C>T (p.His196=) c.1077C>T (p.His359=) c.674C>T (p.Thr225Ile) c.423C>T (p.His141=) c.319+2182C>T c.1307C>T (p.Thr436Ile) | ClinVar dbSNP |
11 | g.71435630G>C | CA381701674 | DHCR7 | c.1173C>G (p.His391Gln) c.999C>G (p.His333Gln) c.1224C>G (p.His408Gln) c.1209C>G (p.His403Gln) c.1181C>G (p.Thr394Arg) n.1213C>G c.588C>G (p.His196Gln) c.1077C>G (p.His359Gln) c.674C>G (p.Thr225Arg) c.423C>G (p.His141Gln) c.319+2182C>G c.1307C>G (p.Thr436Arg) | |
11 | g.71435630G>T | CA381701676 | DHCR7 | c.1173C>A (p.His391Gln) c.999C>A (p.His333Gln) c.1224C>A (p.His408Gln) c.1209C>A (p.His403Gln) c.1181C>A (p.Thr394Lys) n.1213C>A c.588C>A (p.His196Gln) c.1077C>A (p.His359Gln) c.674C>A (p.Thr225Lys) c.423C>A (p.His141Gln) c.319+2182C>A c.1307C>A (p.Thr436Lys) | |
11 | g.71435631T>A | CA381701678 | DHCR7 | c.1172A>T (p.His391Leu) c.998A>T (p.His333Leu) c.1223A>T (p.His408Leu) c.1208A>T (p.His403Leu) c.1180A>T (p.Thr394Ser) n.1212A>T c.587A>T (p.His196Leu) c.1076A>T (p.His359Leu) c.673A>T (p.Thr225Ser) c.422A>T (p.His141Leu) c.319+2181A>T c.1306A>T (p.Thr436Ser) | dbSNP gnomAD v2 |
11 | g.71435631T>C | CA381701680 | DHCR7 | c.1172A>G (p.His391Arg) c.998A>G (p.His333Arg) c.1223A>G (p.His408Arg) c.1208A>G (p.His403Arg) c.1180A>G (p.Thr394Ala) n.1212A>G c.587A>G (p.His196Arg) c.1076A>G (p.His359Arg) c.673A>G (p.Thr225Ala) c.422A>G (p.His141Arg) c.319+2181A>G c.1306A>G (p.Thr436Ala) | gnomAD v4 |
11 | g.71435631T>G | CA381701682 | DHCR7 | c.1172A>C (p.His391Pro) c.998A>C (p.His333Pro) c.1223A>C (p.His408Pro) c.1208A>C (p.His403Pro) c.1180A>C (p.Thr394Pro) n.1212A>C c.587A>C (p.His196Pro) c.1076A>C (p.His359Pro) c.673A>C (p.Thr225Pro) c.422A>C (p.His141Pro) c.319+2181A>C c.1306A>C (p.Thr436Pro) | ClinVar dbSNP |
11 | g.71435631T= | CA1981486925 | DHCR7 | c.1172A= (p.His391=) c.998A= (p.His333=) c.1223A= (p.His408=) c.1208A= (p.His403=) c.1180A= (p.Thr394=) n.1212A= c.587A= (p.His196=) c.1076A= (p.His359=) c.673A= (p.Thr225=) c.422A= (p.His141=) c.319+2181A= c.1306A= (p.Thr436=) | |
11 | g.71435632G>A | CA381701684 | DHCR7 | c.1171C>T (p.His391Tyr) c.997C>T (p.His333Tyr) c.1222C>T (p.His408Tyr) c.1207C>T (p.His403Tyr) c.1179C>T (p.Thr393=) n.1211C>T c.586C>T (p.His196Tyr) c.1075C>T (p.His359Tyr) c.672C>T (p.Thr224=) c.421C>T (p.His141Tyr) c.319+2180C>T c.1305C>T (p.Thr435=) | |
11 | g.71435632G>C | CA381701687 | DHCR7 | c.1171C>G (p.His391Asp) c.997C>G (p.His333Asp) c.1222C>G (p.His408Asp) c.1207C>G (p.His403Asp) c.1179C>G (p.Thr393=) n.1211C>G c.586C>G (p.His196Asp) c.1075C>G (p.His359Asp) c.672C>G (p.Thr224=) c.421C>G (p.His141Asp) c.319+2180C>G c.1305C>G (p.Thr435=) | |
11 | g.71435632G>T | CA381701688 | DHCR7 | c.1171C>A (p.His391Asn) c.997C>A (p.His333Asn) c.1222C>A (p.His408Asn) c.1207C>A (p.His403Asn) c.1179C>A (p.Thr393=) n.1211C>A c.586C>A (p.His196Asn) c.1075C>A (p.His359Asn) c.672C>A (p.Thr224=) c.421C>A (p.His141Asn) c.319+2180C>A c.1305C>A (p.Thr435=) | gnomAD v4 |
11 | g.71435633G>A | CA381701694 | DHCR7 | c.1170C>T (p.His390=) c.996C>T (p.His332=) c.1221C>T (p.His407=) c.1206C>T (p.His402=) c.1178C>T (p.Thr393Ile) n.1210C>T c.585C>T (p.His195=) c.1074C>T (p.His358=) c.671C>T (p.Thr224Ile) c.420C>T (p.His140=) c.319+2179C>T c.1304C>T (p.Thr435Ile) | ClinVar dbSNP |
11 | g.71435633G>C | CA381701691 | DHCR7 | c.1170C>G (p.His390Gln) c.996C>G (p.His332Gln) c.1221C>G (p.His407Gln) c.1206C>G (p.His402Gln) c.1178C>G (p.Thr393Ser) n.1210C>G c.585C>G (p.His195Gln) c.1074C>G (p.His358Gln) c.671C>G (p.Thr224Ser) c.420C>G (p.His140Gln) c.319+2179C>G c.1304C>G (p.Thr435Ser) | |
11 | g.71435633G>T | CA381701693 | DHCR7 | c.1170C>A (p.His390Gln) c.996C>A (p.His332Gln) c.1221C>A (p.His407Gln) c.1206C>A (p.His402Gln) c.1178C>A (p.Thr393Asn) n.1210C>A c.585C>A (p.His195Gln) c.1074C>A (p.His358Gln) c.671C>A (p.Thr224Asn) c.420C>A (p.His140Gln) c.319+2179C>A c.1304C>A (p.Thr435Asn) | |
11 | g.71435634T>A | CA381701697 | DHCR7 | c.1169A>T (p.His390Leu) c.995A>T (p.His332Leu) c.1220A>T (p.His407Leu) c.1205A>T (p.His402Leu) c.1177A>T (p.Thr393Ser) n.1209A>T c.584A>T (p.His195Leu) c.1073A>T (p.His358Leu) c.670A>T (p.Thr224Ser) c.419A>T (p.His140Leu) c.319+2178A>T c.1303A>T (p.Thr435Ser) | |
11 | g.71435634T>C | CA6162293 | DHCR7 | c.1169A>G (p.His390Arg) c.995A>G (p.His332Arg) c.1220A>G (p.His407Arg) c.1205A>G (p.His402Arg) c.1177A>G (p.Thr393Ala) n.1209A>G c.584A>G (p.His195Arg) c.1073A>G (p.His358Arg) c.670A>G (p.Thr224Ala) c.419A>G (p.His140Arg) c.319+2178A>G c.1303A>G (p.Thr435Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435634T>G | CA381701700 | DHCR7 | c.1169A>C (p.His390Pro) c.995A>C (p.His332Pro) c.1220A>C (p.His407Pro) c.1205A>C (p.His402Pro) c.1177A>C (p.Thr393Pro) n.1209A>C c.584A>C (p.His195Pro) c.1073A>C (p.His358Pro) c.670A>C (p.Thr224Pro) c.419A>C (p.His140Pro) c.319+2178A>C c.1303A>C (p.Thr435Pro) | |
11 | g.71435634T= | CA1981486926 | DHCR7 | c.1169A= (p.His390=) c.995A= (p.His332=) c.1220A= (p.His407=) c.1205A= (p.His402=) c.1177A= (p.Thr393=) n.1209A= c.584A= (p.His195=) c.1073A= (p.His358=) c.670A= (p.Thr224=) c.419A= (p.His140=) c.319+2178A= c.1303A= (p.Thr435=) |