Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
11 | g.71435635G>A | CA6162294 | DHCR7 | c.1168C>T (p.His390Tyr) c.994C>T (p.His332Tyr) c.1219C>T (p.His407Tyr) c.1204C>T (p.His402Tyr) c.1176C>T (p.Gly392=) n.1208C>T c.583C>T (p.His195Tyr) c.1072C>T (p.His358Tyr) c.669C>T (p.Gly223=) c.418C>T (p.His140Tyr) c.319+2177C>T c.1302C>T (p.Gly434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435635G>C | CA381701703 | DHCR7 | c.1168C>G (p.His390Asp) c.994C>G (p.His332Asp) c.1219C>G (p.His407Asp) c.1204C>G (p.His402Asp) c.1176C>G (p.Gly392=) n.1208C>G c.583C>G (p.His195Asp) c.1072C>G (p.His358Asp) c.669C>G (p.Gly223=) c.418C>G (p.His140Asp) c.319+2177C>G c.1302C>G (p.Gly434=) | |
11 | g.71435635G= | CA1981486927 | DHCR7 | c.1168C= (p.His390=) c.994C= (p.His332=) c.1219C= (p.His407=) c.1204C= (p.His402=) c.1176C= (p.Gly392=) n.1208C= c.583C= (p.His195=) c.1072C= (p.His358=) c.669C= (p.Gly223=) c.418C= (p.His140=) c.319+2177C= c.1302C= (p.Gly434=) | |
11 | g.71435635G>T | CA381701705 | DHCR7 | c.1168C>A (p.His390Asn) c.994C>A (p.His332Asn) c.1219C>A (p.His407Asn) c.1204C>A (p.His402Asn) c.1176C>A (p.Gly392=) n.1208C>A c.583C>A (p.His195Asn) c.1072C>A (p.His358Asn) c.669C>A (p.Gly223=) c.418C>A (p.His140Asn) c.319+2177C>A c.1302C>A (p.Gly434=) | gnomAD v4 |
11 | g.71435636C>A | CA381701707 | DHCR7 | c.1167G>T (p.Arg389Ser) c.993G>T (p.Arg331Ser) c.1218G>T (p.Arg406Ser) c.1203G>T (p.Arg401Ser) c.1175G>T (p.Gly392Val) n.1207G>T c.582G>T (p.Arg194Ser) c.1071G>T (p.Arg357Ser) c.668G>T (p.Gly223Val) c.417G>T (p.Arg139Ser) c.319+2176G>T c.1301G>T (p.Gly434Val) | |
11 | g.71435636C= | CA1981486928 | DHCR7 | c.1167G= (p.Arg389=) c.993G= (p.Arg331=) c.1218G= (p.Arg406=) c.1203G= (p.Arg401=) c.1175G= (p.Gly392=) n.1207G= c.582G= (p.Arg194=) c.1071G= (p.Arg357=) c.668G= (p.Gly223=) c.417G= (p.Arg139=) c.319+2176G= c.1301G= (p.Gly434=) | |
11 | g.71435636C>G | CA381701709 | DHCR7 | c.1167G>C (p.Arg389Ser) c.993G>C (p.Arg331Ser) c.1218G>C (p.Arg406Ser) c.1203G>C (p.Arg401Ser) c.1175G>C (p.Gly392Ala) n.1207G>C c.582G>C (p.Arg194Ser) c.1071G>C (p.Arg357Ser) c.668G>C (p.Gly223Ala) c.417G>C (p.Arg139Ser) c.319+2176G>C c.1301G>C (p.Gly434Ala) | |
11 | g.71435636C>T | CA381701711 | DHCR7 | c.1167G>A (p.Arg389=) c.993G>A (p.Arg331=) c.1218G>A (p.Arg406=) c.1203G>A (p.Arg401=) c.1175G>A (p.Gly392Asp) n.1207G>A c.582G>A (p.Arg194=) c.1071G>A (p.Arg357=) c.668G>A (p.Gly223Asp) c.417G>A (p.Arg139=) c.319+2176G>A c.1301G>A (p.Gly434Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435637C>A | CA381701713 | DHCR7 | c.1166G>T (p.Arg389Met) c.992G>T (p.Arg331Met) c.1217G>T (p.Arg406Met) c.1202G>T (p.Arg401Met) c.1174G>T (p.Gly392Cys) n.1206G>T c.581G>T (p.Arg194Met) c.1070G>T (p.Arg357Met) c.667G>T (p.Gly223Cys) c.416G>T (p.Arg139Met) c.319+2175G>T c.1300G>T (p.Gly434Cys) | |
11 | g.71435637C= | CA1981486929 | DHCR7 | c.1166G= (p.Arg389=) c.992G= (p.Arg331=) c.1217G= (p.Arg406=) c.1202G= (p.Arg401=) c.1174G= (p.Gly392=) n.1206G= c.581G= (p.Arg194=) c.1070G= (p.Arg357=) c.667G= (p.Gly223=) c.416G= (p.Arg139=) c.319+2175G= c.1300G= (p.Gly434=) | |
11 | g.71435637C>G | CA381701715 | DHCR7 | c.1166G>C (p.Arg389Thr) c.992G>C (p.Arg331Thr) c.1217G>C (p.Arg406Thr) c.1202G>C (p.Arg401Thr) c.1174G>C (p.Gly392Arg) n.1206G>C c.581G>C (p.Arg194Thr) c.1070G>C (p.Arg357Thr) c.667G>C (p.Gly223Arg) c.416G>C (p.Arg139Thr) c.319+2175G>C c.1300G>C (p.Gly434Arg) | |
11 | g.71435637C>T | CA6162295 | DHCR7 | c.1166G>A (p.Arg389Lys) c.992G>A (p.Arg331Lys) c.1217G>A (p.Arg406Lys) c.1202G>A (p.Arg401Lys) c.1174G>A (p.Gly392Ser) n.1206G>A c.581G>A (p.Arg194Lys) c.1070G>A (p.Arg357Lys) c.667G>A (p.Gly223Ser) c.416G>A (p.Arg139Lys) c.319+2175G>A c.1300G>A (p.Gly434Ser) | dbSNP ExAC |
11 | g.71435638T>A | CA381701719 | DHCR7 | c.1165A>T (p.Arg389Trp) c.991A>T (p.Arg331Trp) c.1216A>T (p.Arg406Trp) c.1201A>T (p.Arg401Trp) c.1173A>T (p.Arg391Ser) n.1205A>T c.580A>T (p.Arg194Trp) c.1069A>T (p.Arg357Trp) c.666A>T (p.Arg222Ser) c.415A>T (p.Arg139Trp) c.319+2174A>T c.1299A>T (p.Arg433Ser) | |
11 | g.71435638T>C | CA381701722 | DHCR7 | c.1165A>G (p.Arg389Gly) c.991A>G (p.Arg331Gly) c.1216A>G (p.Arg406Gly) c.1201A>G (p.Arg401Gly) c.1173A>G (p.Arg391=) n.1205A>G c.580A>G (p.Arg194Gly) c.1069A>G (p.Arg357Gly) c.666A>G (p.Arg222=) c.415A>G (p.Arg139Gly) c.319+2174A>G c.1299A>G (p.Arg433=) | |
11 | g.71435638T>G | CA381701717 | DHCR7 | c.1165A>C (p.Arg389=) c.991A>C (p.Arg331=) c.1216A>C (p.Arg406=) c.1201A>C (p.Arg401=) c.1173A>C (p.Arg391Ser) n.1205A>C c.580A>C (p.Arg194=) c.1069A>C (p.Arg357=) c.666A>C (p.Arg222Ser) c.415A>C (p.Arg139=) c.319+2174A>C c.1299A>C (p.Arg433Ser) | dbSNP |
11 | g.71435638T= | CA1981486930 | DHCR7 | c.1165A= (p.Arg389=) c.991A= (p.Arg331=) c.1216A= (p.Arg406=) c.1201A= (p.Arg401=) c.1173A= (p.Arg391=) n.1205A= c.580A= (p.Arg194=) c.1069A= (p.Arg357=) c.666A= (p.Arg222=) c.415A= (p.Arg139=) c.319+2174A= c.1299A= (p.Arg433=) | |
11 | g.71435639C>A | CA381701724 | DHCR7 | c.1164G>T (p.Gln388His) c.990G>T (p.Gln330His) c.1215G>T (p.Gln405His) c.1200G>T (p.Gln400His) c.1172G>T (p.Arg391Ile) n.1204G>T c.579G>T (p.Gln193His) c.1068G>T (p.Gln356His) c.665G>T (p.Arg222Ile) c.414G>T (p.Gln138His) c.319+2173G>T c.1298G>T (p.Arg433Ile) | gnomAD v4 |
11 | g.71435639C>G | CA381701725 | DHCR7 | c.1164G>C (p.Gln388His) c.990G>C (p.Gln330His) c.1215G>C (p.Gln405His) c.1200G>C (p.Gln400His) c.1172G>C (p.Arg391Thr) n.1204G>C c.579G>C (p.Gln193His) c.1068G>C (p.Gln356His) c.665G>C (p.Arg222Thr) c.414G>C (p.Gln138His) c.319+2173G>C c.1298G>C (p.Arg433Thr) | |
11 | g.71435639C>T | CA381701727 | DHCR7 | c.1164G>A (p.Gln388=) c.990G>A (p.Gln330=) c.1215G>A (p.Gln405=) c.1200G>A (p.Gln400=) c.1172G>A (p.Arg391Lys) n.1204G>A c.579G>A (p.Gln193=) c.1068G>A (p.Gln356=) c.665G>A (p.Arg222Lys) c.414G>A (p.Gln138=) c.319+2173G>A c.1298G>A (p.Arg433Lys) | gnomAD v4 |
11 | g.71435640T>A | CA381701729 | DHCR7 | c.1163A>T (p.Gln388Leu) c.989A>T (p.Gln330Leu) c.1214A>T (p.Gln405Leu) c.1199A>T (p.Gln400Leu) c.1171A>T (p.Arg391Ter) n.1203A>T c.578A>T (p.Gln193Leu) c.1067A>T (p.Gln356Leu) c.664A>T (p.Arg222Ter) c.413A>T (p.Gln138Leu) c.319+2172A>T c.1297A>T (p.Arg433Ter) | |
11 | g.71435640T>C | CA381701731 | DHCR7 | c.1163A>G (p.Gln388Arg) c.989A>G (p.Gln330Arg) c.1214A>G (p.Gln405Arg) c.1199A>G (p.Gln400Arg) c.1171A>G (p.Arg391Gly) n.1203A>G c.578A>G (p.Gln193Arg) c.1067A>G (p.Gln356Arg) c.664A>G (p.Arg222Gly) c.413A>G (p.Gln138Arg) c.319+2172A>G c.1297A>G (p.Arg433Gly) | |
11 | g.71435640T>G | CA381701733 | DHCR7 | c.1163A>C (p.Gln388Pro) c.989A>C (p.Gln330Pro) c.1214A>C (p.Gln405Pro) c.1199A>C (p.Gln400Pro) c.1171A>C (p.Arg391=) n.1203A>C c.578A>C (p.Gln193Pro) c.1067A>C (p.Gln356Pro) c.664A>C (p.Arg222=) c.413A>C (p.Gln138Pro) c.319+2172A>C c.1297A>C (p.Arg433=) | |
11 | g.71435641G>A | CA381701735 | DHCR7 | c.1162C>T (p.Gln388Ter) c.988C>T (p.Gln330Ter) c.1213C>T (p.Gln405Ter) c.1198C>T (p.Gln400Ter) c.1170C>T (p.Gly390=) n.1202C>T c.577C>T (p.Gln193Ter) c.1066C>T (p.Gln356Ter) c.663C>T (p.Gly221=) c.412C>T (p.Gln138Ter) c.319+2171C>T c.1296C>T (p.Gly432=) | |
11 | g.71435641G>C | CA381701737 | DHCR7 | c.1162C>G (p.Gln388Glu) c.988C>G (p.Gln330Glu) c.1213C>G (p.Gln405Glu) c.1198C>G (p.Gln400Glu) c.1170C>G (p.Gly390=) n.1202C>G c.577C>G (p.Gln193Glu) c.1066C>G (p.Gln356Glu) c.663C>G (p.Gly221=) c.412C>G (p.Gln138Glu) c.319+2171C>G c.1296C>G (p.Gly432=) | |
11 | g.71435641G>T | CA381701739 | DHCR7 | c.1162C>A (p.Gln388Lys) c.988C>A (p.Gln330Lys) c.1213C>A (p.Gln405Lys) c.1198C>A (p.Gln400Lys) c.1170C>A (p.Gly390=) n.1202C>A c.577C>A (p.Gln193Lys) c.1066C>A (p.Gln356Lys) c.663C>A (p.Gly221=) c.412C>A (p.Gln138Lys) c.319+2171C>A c.1296C>A (p.Gly432=) | gnomAD v4 |
11 | g.71435642C>A | CA381701741 | DHCR7 | c.1161G>T (p.Gly387=) c.987G>T (p.Gly329=) c.1212G>T (p.Gly404=) c.1197G>T (p.Gly399=) c.1169G>T (p.Gly390Val) n.1201G>T c.576G>T (p.Gly192=) c.1065G>T (p.Gly355=) c.662G>T (p.Gly221Val) c.411G>T (p.Gly137=) c.319+2170G>T c.1295G>T (p.Gly432Val) | ClinVar dbSNP |
11 | g.71435642C= | CA1981486931 | DHCR7 | c.1161G= (p.Gly387=) c.987G= (p.Gly329=) c.1212G= (p.Gly404=) c.1197G= (p.Gly399=) c.1169G= (p.Gly390=) n.1201G= c.576G= (p.Gly192=) c.1065G= (p.Gly355=) c.662G= (p.Gly221=) c.411G= (p.Gly137=) c.319+2170G= c.1295G= (p.Gly432=) | |
11 | g.71435642C>G | CA381701743 | DHCR7 | c.1161G>C (p.Gly387=) c.987G>C (p.Gly329=) c.1212G>C (p.Gly404=) c.1197G>C (p.Gly399=) c.1169G>C (p.Gly390Ala) n.1201G>C c.576G>C (p.Gly192=) c.1065G>C (p.Gly355=) c.662G>C (p.Gly221Ala) c.411G>C (p.Gly137=) c.319+2170G>C c.1295G>C (p.Gly432Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435642C>T | CA381701745 | DHCR7 | c.1161G>A (p.Gly387=) c.987G>A (p.Gly329=) c.1212G>A (p.Gly404=) c.1197G>A (p.Gly399=) c.1169G>A (p.Gly390Asp) n.1201G>A c.576G>A (p.Gly192=) c.1065G>A (p.Gly355=) c.662G>A (p.Gly221Asp) c.411G>A (p.Gly137=) c.319+2170G>A c.1295G>A (p.Gly432Asp) | ClinVar |
11 | g.71435643C>A | CA381701749 | DHCR7 | c.1160G>T (p.Gly387Val) c.986G>T (p.Gly329Val) c.1211G>T (p.Gly404Val) c.1196G>T (p.Gly399Val) c.1168G>T (p.Gly390Cys) n.1200G>T c.575G>T (p.Gly192Val) c.1064G>T (p.Gly355Val) c.661G>T (p.Gly221Cys) c.410G>T (p.Gly137Val) c.319+2169G>T c.1294G>T (p.Gly432Cys) | |
11 | g.71435643C>G | CA381701750 | DHCR7 | c.1160G>C (p.Gly387Ala) c.986G>C (p.Gly329Ala) c.1211G>C (p.Gly404Ala) c.1196G>C (p.Gly399Ala) c.1168G>C (p.Gly390Arg) n.1200G>C c.575G>C (p.Gly192Ala) c.1064G>C (p.Gly355Ala) c.661G>C (p.Gly221Arg) c.410G>C (p.Gly137Ala) c.319+2169G>C c.1294G>C (p.Gly432Arg) | |
11 | g.71435643C>T | CA381701747 | DHCR7 | c.1160G>A (p.Gly387Glu) c.986G>A (p.Gly329Glu) c.1211G>A (p.Gly404Glu) c.1196G>A (p.Gly399Glu) c.1168G>A (p.Gly390Ser) n.1200G>A c.575G>A (p.Gly192Glu) c.1064G>A (p.Gly355Glu) c.661G>A (p.Gly221Ser) c.410G>A (p.Gly137Glu) c.319+2169G>A c.1294G>A (p.Gly432Ser) | |
11 | g.71435644C>A | CA381701752 | DHCR7 | c.1159G>T (p.Gly387Trp) c.985G>T (p.Gly329Trp) c.1210G>T (p.Gly404Trp) c.1195G>T (p.Gly399Trp) c.1167G>T (p.Met389Ile) n.1199G>T c.574G>T (p.Gly192Trp) c.1063G>T (p.Gly355Trp) c.660G>T (p.Met220Ile) c.409G>T (p.Gly137Trp) c.319+2168G>T c.1293G>T (p.Met431Ile) | |
11 | g.71435644C= | CA1981486932 | DHCR7 | c.1159G= (p.Gly387=) c.985G= (p.Gly329=) c.1210G= (p.Gly404=) c.1195G= (p.Gly399=) c.1167G= (p.Met389=) n.1199G= c.574G= (p.Gly192=) c.1063G= (p.Gly355=) c.660G= (p.Met220=) c.409G= (p.Gly137=) c.319+2168G= c.1293G= (p.Met431=) | |
11 | g.71435644C>G | CA381701754 | DHCR7 | c.1159G>C (p.Gly387Arg) c.985G>C (p.Gly329Arg) c.1210G>C (p.Gly404Arg) c.1195G>C (p.Gly399Arg) c.1167G>C (p.Met389Ile) n.1199G>C c.574G>C (p.Gly192Arg) c.1063G>C (p.Gly355Arg) c.660G>C (p.Met220Ile) c.409G>C (p.Gly137Arg) c.319+2168G>C c.1293G>C (p.Met431Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435644C>T | CA6162296 | DHCR7 | c.1159G>A (p.Gly387Arg) c.985G>A (p.Gly329Arg) c.1210G>A (p.Gly404Arg) c.1195G>A (p.Gly399Arg) c.1167G>A (p.Met389Ile) n.1199G>A c.574G>A (p.Gly192Arg) c.1063G>A (p.Gly355Arg) c.660G>A (p.Met220Ile) c.409G>A (p.Gly137Arg) c.319+2168G>A c.1293G>A (p.Met431Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435645A= | CA1981486933 | DHCR7 | c.1158T= (p.Asp386=) c.984T= (p.Asp328=) c.1209T= (p.Asp403=) c.1194T= (p.Asp398=) c.1166T= (p.Met389=) n.1198T= c.573T= (p.Asp191=) c.1062T= (p.Asp354=) c.659T= (p.Met220=) c.408T= (p.Asp136=) c.319+2167T= c.1292T= (p.Met431=) | |
11 | g.71435645A>C | CA381701757 | DHCR7 | c.1158T>G (p.Asp386Glu) c.984T>G (p.Asp328Glu) c.1209T>G (p.Asp403Glu) c.1194T>G (p.Asp398Glu) c.1166T>G (p.Met389Arg) n.1198T>G c.573T>G (p.Asp191Glu) c.1062T>G (p.Asp354Glu) c.659T>G (p.Met220Arg) c.408T>G (p.Asp136Glu) c.319+2167T>G c.1292T>G (p.Met431Arg) | dbSNP |
11 | g.71435645A>G | CA147230 | DHCR7 | c.1158T>C (p.Asp386=) c.984T>C (p.Asp328=) c.1209T>C (p.Asp403=) c.1194T>C (p.Asp398=) c.1166T>C (p.Met389Thr) n.1198T>C c.573T>C (p.Asp191=) c.1062T>C (p.Asp354=) c.659T>C (p.Met220Thr) c.408T>C (p.Asp136=) c.319+2167T>C c.1292T>C (p.Met431Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435645A>T | CA224324303 | DHCR7 | c.1158T>A (p.Asp386Glu) c.984T>A (p.Asp328Glu) c.1209T>A (p.Asp403Glu) c.1194T>A (p.Asp398Glu) c.1166T>A (p.Met389Lys) n.1198T>A c.573T>A (p.Asp191Glu) c.1062T>A (p.Asp354Glu) c.659T>A (p.Met220Lys) c.408T>A (p.Asp136Glu) c.319+2167T>A c.1292T>A (p.Met431Lys) | dbSNP |
11 | g.71435645_71435647delinsGTT | CA2580084831 | DHCR7 | c.1156_1158delinsAAC (p.Asp386Asn) c.982_984delinsAAC (p.Asp328Asn) c.1207_1209delinsAAC (p.Asp403Asn) c.1192_1194delinsAAC (p.Asp398Asn) c.1164_1166delinsAAC (p.Met389Thr) n.1196_1198delinsAAC c.571_573delinsAAC (p.Asp191Asn) c.1060_1062delinsAAC (p.Asp354Asn) c.657_659delinsAAC (p.Met220Thr) c.406_408delinsAAC (p.Asp136Asn) c.319+2165_319+2167delinsAAC c.1290_1292delinsAAC (p.Met431Thr) | ClinVar |
11 | g.71435646T>A | CA381701764 | DHCR7 | c.1157A>T (p.Asp386Val) c.983A>T (p.Asp328Val) c.1208A>T (p.Asp403Val) c.1193A>T (p.Asp398Val) c.1165A>T (p.Met389Leu) n.1197A>T c.572A>T (p.Asp191Val) c.1061A>T (p.Asp354Val) c.658A>T (p.Met220Leu) c.407A>T (p.Asp136Val) c.319+2166A>T c.1291A>T (p.Met431Leu) | |
11 | g.71435646T>C | CA381701760 | DHCR7 | c.1157A>G (p.Asp386Gly) c.983A>G (p.Asp328Gly) c.1208A>G (p.Asp403Gly) c.1193A>G (p.Asp398Gly) c.1165A>G (p.Met389Val) n.1197A>G c.572A>G (p.Asp191Gly) c.1061A>G (p.Asp354Gly) c.658A>G (p.Met220Val) c.407A>G (p.Asp136Gly) c.319+2166A>G c.1291A>G (p.Met431Val) | |
11 | g.71435646T>G | CA381701762 | DHCR7 | c.1157A>C (p.Asp386Ala) c.983A>C (p.Asp328Ala) c.1208A>C (p.Asp403Ala) c.1193A>C (p.Asp398Ala) c.1165A>C (p.Met389Leu) n.1197A>C c.572A>C (p.Asp191Ala) c.1061A>C (p.Asp354Ala) c.658A>C (p.Met220Leu) c.407A>C (p.Asp136Ala) c.319+2166A>C c.1291A>C (p.Met431Leu) | |
11 | g.71435647del | CA2842972957 | DHCR7 | c.1156del (p.Asp386MetfsTer27) c.982del (p.Asp328MetfsTer27) c.1207del (p.Asp403MetfsTer27) c.1192del (p.Asp398MetfsTer27) c.1164del (p.Met389TrpfsTer?) n.1196del c.571del (p.Asp191MetfsTer27) c.1060del (p.Asp354MetfsTer27) c.657del (p.Met220TrpfsTer?) c.406del (p.Asp136MetfsTer27) c.319+2165del c.1290del (p.Met431TrpfsTer?) | |
11 | g.71435647C>A | CA381701765 | DHCR7 | c.1156G>T (p.Asp386Tyr) c.982G>T (p.Asp328Tyr) c.1207G>T (p.Asp403Tyr) c.1192G>T (p.Asp398Tyr) c.1164G>T (p.Pro388=) n.1196G>T c.571G>T (p.Asp191Tyr) c.1060G>T (p.Asp354Tyr) c.657G>T (p.Pro219=) c.406G>T (p.Asp136Tyr) c.319+2165G>T c.1290G>T (p.Pro430=) | |
11 | g.71435647C= | CA1981486934 | DHCR7 | c.1156G= (p.Asp386=) c.982G= (p.Asp328=) c.1207G= (p.Asp403=) c.1192G= (p.Asp398=) c.1164G= (p.Pro388=) n.1196G= c.571G= (p.Asp191=) c.1060G= (p.Asp354=) c.657G= (p.Pro219=) c.406G= (p.Asp136=) c.319+2165G= c.1290G= (p.Pro430=) | |
11 | g.71435647C>G | CA381701767 | DHCR7 | c.1156G>C (p.Asp386His) c.982G>C (p.Asp328His) c.1207G>C (p.Asp403His) c.1192G>C (p.Asp398His) c.1164G>C (p.Pro388=) n.1196G>C c.571G>C (p.Asp191His) c.1060G>C (p.Asp354His) c.657G>C (p.Pro219=) c.406G>C (p.Asp136His) c.319+2165G>C c.1290G>C (p.Pro430=) | ClinVar gnomAD v4 |
11 | g.71435647C>T | CA6162297 | DHCR7 | c.1156G>A (p.Asp386Asn) c.982G>A (p.Asp328Asn) c.1207G>A (p.Asp403Asn) c.1192G>A (p.Asp398Asn) c.1164G>A (p.Pro388=) n.1196G>A c.571G>A (p.Asp191Asn) c.1060G>A (p.Asp354Asn) c.657G>A (p.Pro219=) c.406G>A (p.Asp136Asn) c.319+2165G>A c.1290G>A (p.Pro430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435647_71435648delinsCG | CA1981486935 | DHCR7 | c.1155_1156delinsCG (p.Ala385=) c.981_982delinsCG (p.Ala327=) c.1206_1207delinsCG (p.Ala402=) c.1191_1192delinsCG (p.Ala397=) c.1163_1164delinsCG (p.Pro388=) n.1195_1196delinsCG c.570_571delinsCG (p.Ala190=) c.1059_1060delinsCG (p.Ala353=) c.656_657delinsCG (p.Pro219=) c.405_406delinsCG (p.Ala135=) c.319+2164_319+2165delinsCG c.1289_1290delinsCG (p.Pro430=) | |
11 | g.71435648G>A | CA6162298 | DHCR7 | c.1155C>T (p.Ala385=) c.981C>T (p.Ala327=) c.1206C>T (p.Ala402=) c.1191C>T (p.Ala397=) c.1163C>T (p.Pro388Leu) n.1195C>T c.570C>T (p.Ala190=) c.1059C>T (p.Ala353=) c.656C>T (p.Pro219Leu) c.405C>T (p.Ala135=) c.319+2164C>T c.1289C>T (p.Pro430Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435648G>C | CA381701771 | DHCR7 | c.1155C>G (p.Ala385=) c.981C>G (p.Ala327=) c.1206C>G (p.Ala402=) c.1191C>G (p.Ala397=) c.1163C>G (p.Pro388Arg) n.1195C>G c.570C>G (p.Ala190=) c.1059C>G (p.Ala353=) c.656C>G (p.Pro219Arg) c.405C>G (p.Ala135=) c.319+2164C>G c.1289C>G (p.Pro430Arg) | |
11 | g.71435648G= | CA1981486936 | DHCR7 | c.1155C= (p.Ala385=) c.981C= (p.Ala327=) c.1206C= (p.Ala402=) c.1191C= (p.Ala397=) c.1163C= (p.Pro388=) n.1195C= c.570C= (p.Ala190=) c.1059C= (p.Ala353=) c.656C= (p.Pro219=) c.405C= (p.Ala135=) c.319+2164C= c.1289C= (p.Pro430=) | |
11 | g.71435648G>T | CA381701773 | DHCR7 | c.1155C>A (p.Ala385=) c.981C>A (p.Ala327=) c.1206C>A (p.Ala402=) c.1191C>A (p.Ala397=) c.1163C>A (p.Pro388Gln) n.1195C>A c.570C>A (p.Ala190=) c.1059C>A (p.Ala353=) c.656C>A (p.Pro219Gln) c.405C>A (p.Ala135=) c.319+2164C>A c.1289C>A (p.Pro430Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435649del | CA679810888 | DHCR7 | c.1155del (p.Asp386MetfsTer27) c.981del (p.Asp328MetfsTer27) c.1206del (p.Asp403MetfsTer27) c.1191del (p.Asp398MetfsTer27) c.1163del (p.Pro388ArgfsTer?) n.1195del c.570del (p.Asp191MetfsTer27) c.1059del (p.Asp354MetfsTer27) c.656del (p.Pro219ArgfsTer?) c.405del (p.Asp136MetfsTer27) c.319+2164del c.1289del (p.Pro430ArgfsTer?) | dbSNP |
11 | g.71435649G>A | CA381701778 | DHCR7 | c.1154C>T (p.Ala385Val) c.980C>T (p.Ala327Val) c.1205C>T (p.Ala402Val) c.1190C>T (p.Ala397Val) c.1162C>T (p.Pro388Ser) n.1194C>T c.569C>T (p.Ala190Val) c.1058C>T (p.Ala353Val) c.655C>T (p.Pro219Ser) c.404C>T (p.Ala135Val) c.319+2163C>T c.1288C>T (p.Pro430Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435649G>C | CA224324322 | DHCR7 | c.1154C>G (p.Ala385Gly) c.980C>G (p.Ala327Gly) c.1205C>G (p.Ala402Gly) c.1190C>G (p.Ala397Gly) c.1162C>G (p.Pro388Ala) n.1194C>G c.569C>G (p.Ala190Gly) c.1058C>G (p.Ala353Gly) c.655C>G (p.Pro219Ala) c.404C>G (p.Ala135Gly) c.319+2163C>G c.1288C>G (p.Pro430Ala) | dbSNP |
11 | g.71435649G= | CA1981486937 | DHCR7 | c.1154C= (p.Ala385=) c.980C= (p.Ala327=) c.1205C= (p.Ala402=) c.1190C= (p.Ala397=) c.1162C= (p.Pro388=) n.1194C= c.569C= (p.Ala190=) c.1058C= (p.Ala353=) c.655C= (p.Pro219=) c.404C= (p.Ala135=) c.319+2163C= c.1288C= (p.Pro430=) | |
11 | g.71435649G>T | CA381701776 | DHCR7 | c.1154C>A (p.Ala385Asp) c.980C>A (p.Ala327Asp) c.1205C>A (p.Ala402Asp) c.1190C>A (p.Ala397Asp) c.1162C>A (p.Pro388Thr) n.1194C>A c.569C>A (p.Ala190Asp) c.1058C>A (p.Ala353Asp) c.655C>A (p.Pro219Thr) c.404C>A (p.Ala135Asp) c.319+2163C>A c.1288C>A (p.Pro430Thr) | |
11 | g.71435650C>A | CA381701781 | DHCR7 | c.1153G>T (p.Ala385Ser) c.979G>T (p.Ala327Ser) c.1204G>T (p.Ala402Ser) c.1189G>T (p.Ala397Ser) c.1161G>T (p.Pro387=) n.1193G>T c.568G>T (p.Ala190Ser) c.1057G>T (p.Ala353Ser) c.654G>T (p.Pro218=) c.403G>T (p.Ala135Ser) c.319+2162G>T c.1287G>T (p.Pro429=) | |
11 | g.71435650C= | CA1981486938 | DHCR7 | c.1153G= (p.Ala385=) c.979G= (p.Ala327=) c.1204G= (p.Ala402=) c.1189G= (p.Ala397=) c.1161G= (p.Pro387=) n.1193G= c.568G= (p.Ala190=) c.1057G= (p.Ala353=) c.654G= (p.Pro218=) c.403G= (p.Ala135=) c.319+2162G= c.1287G= (p.Pro429=) | |
11 | g.71435650C>G | CA381701784 | DHCR7 | c.1153G>C (p.Ala385Pro) c.979G>C (p.Ala327Pro) c.1204G>C (p.Ala402Pro) c.1189G>C (p.Ala397Pro) c.1161G>C (p.Pro387=) n.1193G>C c.568G>C (p.Ala190Pro) c.1057G>C (p.Ala353Pro) c.654G>C (p.Pro218=) c.403G>C (p.Ala135Pro) c.319+2162G>C c.1287G>C (p.Pro429=) | |
11 | g.71435650C>T | CA6162299 | DHCR7 | c.1153G>A (p.Ala385Thr) c.979G>A (p.Ala327Thr) c.1204G>A (p.Ala402Thr) c.1189G>A (p.Ala397Thr) c.1161G>A (p.Pro387=) n.1193G>A c.568G>A (p.Ala190Thr) c.1057G>A (p.Ala353Thr) c.654G>A (p.Pro218=) c.403G>A (p.Ala135Thr) c.319+2162G>A c.1287G>A (p.Pro429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435651G>A | CA6162300 | DHCR7 | c.1152C>T (p.Ser384=) c.978C>T (p.Ser326=) c.1203C>T (p.Ser401=) c.1188C>T (p.Ser396=) c.1160C>T (p.Pro387Leu) n.1192C>T c.567C>T (p.Ser189=) c.1056C>T (p.Ser352=) c.653C>T (p.Pro218Leu) c.402C>T (p.Ser134=) c.319+2161C>T c.1286C>T (p.Pro429Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435651G>C | CA381701786 | DHCR7 | c.1152C>G (p.Ser384=) c.978C>G (p.Ser326=) c.1203C>G (p.Ser401=) c.1188C>G (p.Ser396=) c.1160C>G (p.Pro387Arg) n.1192C>G c.567C>G (p.Ser189=) c.1056C>G (p.Ser352=) c.653C>G (p.Pro218Arg) c.402C>G (p.Ser134=) c.319+2161C>G c.1286C>G (p.Pro429Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435651G= | CA1981486939 | DHCR7 | c.1152C= (p.Ser384=) c.978C= (p.Ser326=) c.1203C= (p.Ser401=) c.1188C= (p.Ser396=) c.1160C= (p.Pro387=) n.1192C= c.567C= (p.Ser189=) c.1056C= (p.Ser352=) c.653C= (p.Pro218=) c.402C= (p.Ser134=) c.319+2161C= c.1286C= (p.Pro429=) | |
11 | g.71435651G>T | CA381701788 | DHCR7 | c.1152C>A (p.Ser384=) c.978C>A (p.Ser326=) c.1203C>A (p.Ser401=) c.1188C>A (p.Ser396=) c.1160C>A (p.Pro387Gln) n.1192C>A c.567C>A (p.Ser189=) c.1056C>A (p.Ser352=) c.653C>A (p.Pro218Gln) c.402C>A (p.Ser134=) c.319+2161C>A c.1286C>A (p.Pro429Gln) | gnomAD v4 |
11 | g.71435652G>A | CA381701790 | DHCR7 | c.1151C>T (p.Ser384Phe) c.977C>T (p.Ser326Phe) c.1202C>T (p.Ser401Phe) c.1187C>T (p.Ser396Phe) c.1159C>T (p.Pro387Ser) n.1191C>T c.566C>T (p.Ser189Phe) c.1055C>T (p.Ser352Phe) c.652C>T (p.Pro218Ser) c.401C>T (p.Ser134Phe) c.319+2160C>T c.1285C>T (p.Pro429Ser) | |
11 | g.71435652G>C | CA6162301 | DHCR7 | c.1151C>G (p.Ser384Cys) c.977C>G (p.Ser326Cys) c.1202C>G (p.Ser401Cys) c.1187C>G (p.Ser396Cys) c.1159C>G (p.Pro387Ala) n.1191C>G c.566C>G (p.Ser189Cys) c.1055C>G (p.Ser352Cys) c.652C>G (p.Pro218Ala) c.401C>G (p.Ser134Cys) c.319+2160C>G c.1285C>G (p.Pro429Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435652G= | CA1981486940 | DHCR7 | c.1151C= (p.Ser384=) c.977C= (p.Ser326=) c.1202C= (p.Ser401=) c.1187C= (p.Ser396=) c.1159C= (p.Pro387=) n.1191C= c.566C= (p.Ser189=) c.1055C= (p.Ser352=) c.652C= (p.Pro218=) c.401C= (p.Ser134=) c.319+2160C= c.1285C= (p.Pro429=) | |
11 | g.71435652G>T | CA381701792 | DHCR7 | c.1151C>A (p.Ser384Tyr) c.977C>A (p.Ser326Tyr) c.1202C>A (p.Ser401Tyr) c.1187C>A (p.Ser396Tyr) c.1159C>A (p.Pro387Thr) n.1191C>A c.566C>A (p.Ser189Tyr) c.1055C>A (p.Ser352Tyr) c.652C>A (p.Pro218Thr) c.401C>A (p.Ser134Tyr) c.319+2160C>A c.1285C>A (p.Pro429Thr) | gnomAD v4 |
11 | g.71435653A>C | CA381701794 | DHCR7 | c.1150T>G (p.Ser384Ala) c.976T>G (p.Ser326Ala) c.1201T>G (p.Ser401Ala) c.1186T>G (p.Ser396Ala) c.1158T>G (p.His386Gln) n.1190T>G c.565T>G (p.Ser189Ala) c.1054T>G (p.Ser352Ala) c.651T>G (p.His217Gln) c.400T>G (p.Ser134Ala) c.319+2159T>G c.1284T>G (p.His428Gln) | |
11 | g.71435653A>G | CA381701796 | DHCR7 | c.1150T>C (p.Ser384Pro) c.976T>C (p.Ser326Pro) c.1201T>C (p.Ser401Pro) c.1186T>C (p.Ser396Pro) c.1158T>C (p.His386=) n.1190T>C c.565T>C (p.Ser189Pro) c.1054T>C (p.Ser352Pro) c.651T>C (p.His217=) c.400T>C (p.Ser134Pro) c.319+2159T>C c.1284T>C (p.His428=) | |
11 | g.71435653A>T | CA381701799 | DHCR7 | c.1150T>A (p.Ser384Thr) c.976T>A (p.Ser326Thr) c.1201T>A (p.Ser401Thr) c.1186T>A (p.Ser396Thr) c.1158T>A (p.His386Gln) n.1190T>A c.565T>A (p.Ser189Thr) c.1054T>A (p.Ser352Thr) c.651T>A (p.His217Gln) c.400T>A (p.Ser134Thr) c.319+2159T>A c.1284T>A (p.His428Gln) | |
11 | g.71435654T>A | CA381701801 | DHCR7 | c.1149A>T (p.Thr383=) c.975A>T (p.Thr325=) c.1200A>T (p.Thr400=) c.1185A>T (p.Thr395=) c.1157A>T (p.His386Leu) n.1189A>T c.564A>T (p.Thr188=) c.1053A>T (p.Thr351=) c.650A>T (p.His217Leu) c.399A>T (p.Thr133=) c.319+2158A>T c.1283A>T (p.His428Leu) | |
11 | g.71435654T>C | CA381701802 | DHCR7 | c.1149A>G (p.Thr383=) c.975A>G (p.Thr325=) c.1200A>G (p.Thr400=) c.1185A>G (p.Thr395=) c.1157A>G (p.His386Arg) n.1189A>G c.564A>G (p.Thr188=) c.1053A>G (p.Thr351=) c.650A>G (p.His217Arg) c.399A>G (p.Thr133=) c.319+2158A>G c.1283A>G (p.His428Arg) | |
11 | g.71435654T>G | CA381701803 | DHCR7 | c.1149A>C (p.Thr383=) c.975A>C (p.Thr325=) c.1200A>C (p.Thr400=) c.1185A>C (p.Thr395=) c.1157A>C (p.His386Pro) n.1189A>C c.564A>C (p.Thr188=) c.1053A>C (p.Thr351=) c.650A>C (p.His217Pro) c.399A>C (p.Thr133=) c.319+2158A>C c.1283A>C (p.His428Pro) | |
11 | g.71435655G>A | CA6162302 | DHCR7 | c.1148C>T (p.Thr383Ile) c.974C>T (p.Thr325Ile) c.1199C>T (p.Thr400Ile) c.1184C>T (p.Thr395Ile) c.1156C>T (p.His386Tyr) n.1188C>T c.563C>T (p.Thr188Ile) c.1052C>T (p.Thr351Ile) c.649C>T (p.His217Tyr) c.398C>T (p.Thr133Ile) c.319+2157C>T c.1282C>T (p.His428Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435655G>C | CA381701804 | DHCR7 | c.1148C>G (p.Thr383Arg) c.974C>G (p.Thr325Arg) c.1199C>G (p.Thr400Arg) c.1184C>G (p.Thr395Arg) c.1156C>G (p.His386Asp) n.1188C>G c.563C>G (p.Thr188Arg) c.1052C>G (p.Thr351Arg) c.649C>G (p.His217Asp) c.398C>G (p.Thr133Arg) c.319+2157C>G c.1282C>G (p.His428Asp) | |
11 | g.71435655G= | CA1981486941 | DHCR7 | c.1148C= (p.Thr383=) c.974C= (p.Thr325=) c.1199C= (p.Thr400=) c.1184C= (p.Thr395=) c.1156C= (p.His386=) n.1188C= c.563C= (p.Thr188=) c.1052C= (p.Thr351=) c.649C= (p.His217=) c.398C= (p.Thr133=) c.319+2157C= c.1282C= (p.His428=) | |
11 | g.71435655G>T | CA381701806 | DHCR7 | c.1148C>A (p.Thr383Lys) c.974C>A (p.Thr325Lys) c.1199C>A (p.Thr400Lys) c.1184C>A (p.Thr395Lys) c.1156C>A (p.His386Asn) n.1188C>A c.563C>A (p.Thr188Lys) c.1052C>A (p.Thr351Lys) c.649C>A (p.His217Asn) c.398C>A (p.Thr133Lys) c.319+2157C>A c.1282C>A (p.His428Asn) | |
11 | g.71435656T>A | CA381701809 | DHCR7 | c.1147A>T (p.Thr383Ser) c.973A>T (p.Thr325Ser) c.1198A>T (p.Thr400Ser) c.1183A>T (p.Thr395Ser) c.1155A>T (p.Thr385=) n.1187A>T c.562A>T (p.Thr188Ser) c.1051A>T (p.Thr351Ser) c.648A>T (p.Thr216=) c.397A>T (p.Thr133Ser) c.319+2156A>T c.1281A>T (p.Thr427=) | |
11 | g.71435656T>C | CA381701811 | DHCR7 | c.1147A>G (p.Thr383Ala) c.973A>G (p.Thr325Ala) c.1198A>G (p.Thr400Ala) c.1183A>G (p.Thr395Ala) c.1155A>G (p.Thr385=) n.1187A>G c.562A>G (p.Thr188Ala) c.1051A>G (p.Thr351Ala) c.648A>G (p.Thr216=) c.397A>G (p.Thr133Ala) c.319+2156A>G c.1281A>G (p.Thr427=) | gnomAD v4 |
11 | g.71435656T>G | CA381701813 | DHCR7 | c.1147A>C (p.Thr383Pro) c.973A>C (p.Thr325Pro) c.1198A>C (p.Thr400Pro) c.1183A>C (p.Thr395Pro) c.1155A>C (p.Thr385=) n.1187A>C c.562A>C (p.Thr188Pro) c.1051A>C (p.Thr351Pro) c.648A>C (p.Thr216=) c.397A>C (p.Thr133Pro) c.319+2156A>C c.1281A>C (p.Thr427=) | |
11 | g.71435657G>A | CA381701819 | DHCR7 | c.1146C>T (p.Tyr382=) c.972C>T (p.Tyr324=) c.1197C>T (p.Tyr399=) c.1182C>T (p.Tyr394=) c.1154C>T (p.Thr385Ile) n.1186C>T c.561C>T (p.Tyr187=) c.1050C>T (p.Tyr350=) c.647C>T (p.Thr216Ile) c.396C>T (p.Tyr132=) c.319+2155C>T c.1280C>T (p.Thr427Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.71435657G>C | CA381701821 | DHCR7 | c.1146C>G (p.Tyr382Ter) c.972C>G (p.Tyr324Ter) c.1197C>G (p.Tyr399Ter) c.1182C>G (p.Tyr394Ter) c.1154C>G (p.Thr385Arg) n.1186C>G c.561C>G (p.Tyr187Ter) c.1050C>G (p.Tyr350Ter) c.647C>G (p.Thr216Arg) c.396C>G (p.Tyr132Ter) c.319+2155C>G c.1280C>G (p.Thr427Arg) | |
11 | g.71435657G= | CA1981486942 | DHCR7 | c.1146C= (p.Tyr382=) c.972C= (p.Tyr324=) c.1197C= (p.Tyr399=) c.1182C= (p.Tyr394=) c.1154C= (p.Thr385=) n.1186C= c.561C= (p.Tyr187=) c.1050C= (p.Tyr350=) c.647C= (p.Thr216=) c.396C= (p.Tyr132=) c.319+2155C= c.1280C= (p.Thr427=) | |
11 | g.71435657G>T | CA381701822 | DHCR7 | c.1146C>A (p.Tyr382Ter) c.972C>A (p.Tyr324Ter) c.1197C>A (p.Tyr399Ter) c.1182C>A (p.Tyr394Ter) c.1154C>A (p.Thr385Lys) n.1186C>A c.561C>A (p.Tyr187Ter) c.1050C>A (p.Tyr350Ter) c.647C>A (p.Thr216Lys) c.396C>A (p.Tyr132Ter) c.319+2155C>A c.1280C>A (p.Thr427Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435657dup | CA2839231216 | DHCR7 | c.1146dup (p.Thr383HisfsTer?) c.972dup (p.Thr325HisfsTer?) c.1197dup (p.Thr400HisfsTer?) c.1182dup (p.Thr395HisfsTer?) c.1154dup (p.His386ThrfsTer?) n.1186dup c.561dup (p.Thr188HisfsTer?) c.1050dup (p.Thr351HisfsTer?) c.647dup (p.His217ThrfsTer?) c.396dup (p.Thr133HisfsTer?) c.319+2155dup c.1280dup (p.His428ThrfsTer?) | |
11 | g.71435658T>A | CA224324355 | DHCR7 | c.1145A>T (p.Tyr382Phe) c.971A>T (p.Tyr324Phe) c.1196A>T (p.Tyr399Phe) c.1181A>T (p.Tyr394Phe) c.1153A>T (p.Thr385Ser) n.1185A>T c.560A>T (p.Tyr187Phe) c.1049A>T (p.Tyr350Phe) c.646A>T (p.Thr216Ser) c.395A>T (p.Tyr132Phe) c.319+2154A>T c.1279A>T (p.Thr427Ser) | dbSNP gnomAD v4 |
11 | g.71435658T>C | CA381701825 | DHCR7 | c.1145A>G (p.Tyr382Cys) c.971A>G (p.Tyr324Cys) c.1196A>G (p.Tyr399Cys) c.1181A>G (p.Tyr394Cys) c.1153A>G (p.Thr385Ala) n.1185A>G c.560A>G (p.Tyr187Cys) c.1049A>G (p.Tyr350Cys) c.646A>G (p.Thr216Ala) c.395A>G (p.Tyr132Cys) c.319+2154A>G c.1279A>G (p.Thr427Ala) | |
11 | g.71435658T>G | CA381701827 | DHCR7 | c.1145A>C (p.Tyr382Ser) c.971A>C (p.Tyr324Ser) c.1196A>C (p.Tyr399Ser) c.1181A>C (p.Tyr394Ser) c.1153A>C (p.Thr385Pro) n.1185A>C c.560A>C (p.Tyr187Ser) c.1049A>C (p.Tyr350Ser) c.646A>C (p.Thr216Pro) c.395A>C (p.Tyr132Ser) c.319+2154A>C c.1279A>C (p.Thr427Pro) | |
11 | g.71435658T= | CA1981486943 | DHCR7 | c.1145A= (p.Tyr382=) c.971A= (p.Tyr324=) c.1196A= (p.Tyr399=) c.1181A= (p.Tyr394=) c.1153A= (p.Thr385=) n.1185A= c.560A= (p.Tyr187=) c.1049A= (p.Tyr350=) c.646A= (p.Thr216=) c.395A= (p.Tyr132=) c.319+2154A= c.1279A= (p.Thr427=) | |
11 | g.71435659A>C | CA381701829 | DHCR7 | c.1144T>G (p.Tyr382Asp) c.970T>G (p.Tyr324Asp) c.1195T>G (p.Tyr399Asp) c.1180T>G (p.Tyr394Asp) c.1152T>G (p.Pro384=) n.1184T>G c.559T>G (p.Tyr187Asp) c.1048T>G (p.Tyr350Asp) c.645T>G (p.Pro215=) c.394T>G (p.Tyr132Asp) c.319+2153T>G c.1278T>G (p.Pro426=) | |
11 | g.71435659A>G | CA381701831 | DHCR7 | c.1144T>C (p.Tyr382His) c.970T>C (p.Tyr324His) c.1195T>C (p.Tyr399His) c.1180T>C (p.Tyr394His) c.1152T>C (p.Pro384=) n.1184T>C c.559T>C (p.Tyr187His) c.1048T>C (p.Tyr350His) c.645T>C (p.Pro215=) c.394T>C (p.Tyr132His) c.319+2153T>C c.1278T>C (p.Pro426=) | gnomAD v4 |
11 | g.71435659A>T | CA381701833 | DHCR7 | c.1144T>A (p.Tyr382Asn) c.970T>A (p.Tyr324Asn) c.1195T>A (p.Tyr399Asn) c.1180T>A (p.Tyr394Asn) c.1152T>A (p.Pro384=) n.1184T>A c.559T>A (p.Tyr187Asn) c.1048T>A (p.Tyr350Asn) c.645T>A (p.Pro215=) c.394T>A (p.Tyr132Asn) c.319+2153T>A c.1278T>A (p.Pro426=) | |
11 | g.71435660G>A | CA381701838 | DHCR7 | c.1143C>T (p.Ser381=) c.969C>T (p.Ser323=) c.1194C>T (p.Ser398=) c.1179C>T (p.Ser393=) c.1151C>T (p.Pro384Leu) n.1183C>T c.558C>T (p.Ser186=) c.1047C>T (p.Ser349=) c.644C>T (p.Pro215Leu) c.393C>T (p.Ser131=) c.319+2152C>T c.1277C>T (p.Pro426Leu) | ClinVar dbSNP |
11 | g.71435660G>C | CA381701836 | DHCR7 | c.1143C>G (p.Ser381=) c.969C>G (p.Ser323=) c.1194C>G (p.Ser398=) c.1179C>G (p.Ser393=) c.1151C>G (p.Pro384Arg) n.1183C>G c.558C>G (p.Ser186=) c.1047C>G (p.Ser349=) c.644C>G (p.Pro215Arg) c.393C>G (p.Ser131=) c.319+2152C>G c.1277C>G (p.Pro426Arg) | |
11 | g.71435660G= | CA1981486944 | DHCR7 | c.1143C= (p.Ser381=) c.969C= (p.Ser323=) c.1194C= (p.Ser398=) c.1179C= (p.Ser393=) c.1151C= (p.Pro384=) n.1183C= c.558C= (p.Ser186=) c.1047C= (p.Ser349=) c.644C= (p.Pro215=) c.393C= (p.Ser131=) c.319+2152C= c.1277C= (p.Pro426=) | |
11 | g.71435660G>T | CA381701835 | DHCR7 | c.1143C>A (p.Ser381=) c.969C>A (p.Ser323=) c.1194C>A (p.Ser398=) c.1179C>A (p.Ser393=) c.1151C>A (p.Pro384His) n.1183C>A c.558C>A (p.Ser186=) c.1047C>A (p.Ser349=) c.644C>A (p.Pro215His) c.393C>A (p.Ser131=) c.319+2152C>A c.1277C>A (p.Pro426His) | |
11 | g.71435661G>A | CA381701844 | DHCR7 | c.1142C>T (p.Ser381Phe) c.968C>T (p.Ser323Phe) c.1193C>T (p.Ser398Phe) c.1178C>T (p.Ser393Phe) c.1150C>T (p.Pro384Ser) n.1182C>T c.557C>T (p.Ser186Phe) c.1046C>T (p.Ser349Phe) c.643C>T (p.Pro215Ser) c.392C>T (p.Ser131Phe) c.319+2151C>T c.1276C>T (p.Pro426Ser) | |
11 | g.71435661G>C | CA381701840 | DHCR7 | c.1142C>G (p.Ser381Cys) c.968C>G (p.Ser323Cys) c.1193C>G (p.Ser398Cys) c.1178C>G (p.Ser393Cys) c.1150C>G (p.Pro384Ala) n.1182C>G c.557C>G (p.Ser186Cys) c.1046C>G (p.Ser349Cys) c.643C>G (p.Pro215Ala) c.392C>G (p.Ser131Cys) c.319+2151C>G c.1276C>G (p.Pro426Ala) | |
11 | g.71435661G>T | CA381701843 | DHCR7 | c.1142C>A (p.Ser381Tyr) c.968C>A (p.Ser323Tyr) c.1193C>A (p.Ser398Tyr) c.1178C>A (p.Ser393Tyr) c.1150C>A (p.Pro384Thr) n.1182C>A c.557C>A (p.Ser186Tyr) c.1046C>A (p.Ser349Tyr) c.643C>A (p.Pro215Thr) c.392C>A (p.Ser131Tyr) c.319+2151C>A c.1276C>A (p.Pro426Thr) | |
11 | g.71435662A>C | CA381701848 | DHCR7 | c.1141T>G (p.Ser381Ala) c.967T>G (p.Ser323Ala) c.1192T>G (p.Ser398Ala) c.1177T>G (p.Ser393Ala) c.1149T>G (p.Ala383=) n.1181T>G c.556T>G (p.Ser186Ala) c.1045T>G (p.Ser349Ala) c.642T>G (p.Ala214=) c.391T>G (p.Ser131Ala) c.319+2150T>G c.1275T>G (p.Ala425=) | |
11 | g.71435662A>G | CA381701850 | DHCR7 | c.1141T>C (p.Ser381Pro) c.967T>C (p.Ser323Pro) c.1192T>C (p.Ser398Pro) c.1177T>C (p.Ser393Pro) c.1149T>C (p.Ala383=) n.1181T>C c.556T>C (p.Ser186Pro) c.1045T>C (p.Ser349Pro) c.642T>C (p.Ala214=) c.391T>C (p.Ser131Pro) c.319+2150T>C c.1275T>C (p.Ala425=) | ClinVar |
11 | g.71435662A>T | CA381701852 | DHCR7 | c.1141T>A (p.Ser381Thr) c.967T>A (p.Ser323Thr) c.1192T>A (p.Ser398Thr) c.1177T>A (p.Ser393Thr) c.1149T>A (p.Ala383=) n.1181T>A c.556T>A (p.Ser186Thr) c.1045T>A (p.Ser349Thr) c.642T>A (p.Ala214=) c.391T>A (p.Ser131Thr) c.319+2150T>A c.1275T>A (p.Ala425=) | |
11 | g.71435663G>A | CA381701857 | DHCR7 | c.1140C>T (p.Cys380=) c.966C>T (p.Cys322=) c.1191C>T (p.Cys397=) c.1176C>T (p.Cys392=) c.1148C>T (p.Ala383Val) n.1180C>T c.555C>T (p.Cys185=) c.1044C>T (p.Cys348=) c.641C>T (p.Ala214Val) c.390C>T (p.Cys130=) c.319+2149C>T c.1274C>T (p.Ala425Val) | |
11 | g.71435663G>C | CA381701856 | DHCR7 | c.1140C>G (p.Cys380Trp) c.966C>G (p.Cys322Trp) c.1191C>G (p.Cys397Trp) c.1176C>G (p.Cys392Trp) c.1148C>G (p.Ala383Gly) n.1180C>G c.555C>G (p.Cys185Trp) c.1044C>G (p.Cys348Trp) c.641C>G (p.Ala214Gly) c.390C>G (p.Cys130Trp) c.319+2149C>G c.1274C>G (p.Ala425Gly) | |
11 | g.71435663G= | CA1981486945 | DHCR7 | c.1140C= (p.Cys380=) c.966C= (p.Cys322=) c.1191C= (p.Cys397=) c.1176C= (p.Cys392=) c.1148C= (p.Ala383=) n.1180C= c.555C= (p.Cys185=) c.1044C= (p.Cys348=) c.641C= (p.Ala214=) c.390C= (p.Cys130=) c.319+2149C= c.1274C= (p.Ala425=) | |
11 | g.71435663G>T | CA6162303 | DHCR7 | c.1140C>A (p.Cys380Ter) c.966C>A (p.Cys322Ter) c.1191C>A (p.Cys397Ter) c.1176C>A (p.Cys392Ter) c.1148C>A (p.Ala383Asp) n.1180C>A c.555C>A (p.Cys185Ter) c.1044C>A (p.Cys348Ter) c.641C>A (p.Ala214Asp) c.390C>A (p.Cys130Ter) c.319+2149C>A c.1274C>A (p.Ala425Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435664C>A | CA6162304 | DHCR7 | c.1139G>T (p.Cys380Phe) c.965G>T (p.Cys322Phe) c.1190G>T (p.Cys397Phe) c.1175G>T (p.Cys392Phe) c.1147G>T (p.Ala383Ser) n.1179G>T c.554G>T (p.Cys185Phe) c.1043G>T (p.Cys348Phe) c.640G>T (p.Ala214Ser) c.389G>T (p.Cys130Phe) c.319+2148G>T c.1273G>T (p.Ala425Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435664C= | CA1981486946 | DHCR7 | c.1139G= (p.Cys380=) c.965G= (p.Cys322=) c.1190G= (p.Cys397=) c.1175G= (p.Cys392=) c.1147G= (p.Ala383=) n.1179G= c.554G= (p.Cys185=) c.1043G= (p.Cys348=) c.640G= (p.Ala214=) c.389G= (p.Cys130=) c.319+2148G= c.1273G= (p.Ala425=) | |
11 | g.71435664C>G | CA381701860 | DHCR7 | c.1139G>C (p.Cys380Ser) c.965G>C (p.Cys322Ser) c.1190G>C (p.Cys397Ser) c.1175G>C (p.Cys392Ser) c.1147G>C (p.Ala383Pro) n.1179G>C c.554G>C (p.Cys185Ser) c.1043G>C (p.Cys348Ser) c.640G>C (p.Ala214Pro) c.389G>C (p.Cys130Ser) c.319+2148G>C c.1273G>C (p.Ala425Pro) | |
11 | g.71435664C>T | CA274343 | DHCR7 | c.1139G>A (p.Cys380Tyr) c.965G>A (p.Cys322Tyr) c.1190G>A (p.Cys397Tyr) c.1175G>A (p.Cys392Tyr) c.1147G>A (p.Ala383Thr) n.1179G>A c.554G>A (p.Cys185Tyr) c.1043G>A (p.Cys348Tyr) c.640G>A (p.Ala214Thr) c.389G>A (p.Cys130Tyr) c.319+2148G>A c.1273G>A (p.Ala425Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435665A= | CA1981486947 | DHCR7 | c.1138T= (p.Cys380=) c.964T= (p.Cys322=) c.1189T= (p.Cys397=) c.1174T= (p.Cys392=) c.1146T= (p.Ser382=) n.1178T= c.553T= (p.Cys185=) c.1042T= (p.Cys348=) c.639T= (p.Ser213=) c.388T= (p.Cys130=) c.319+2147T= c.1272T= (p.Ser424=) | |
11 | g.71435665A>C | CA381701862 | DHCR7 | c.1138T>G (p.Cys380Gly) c.964T>G (p.Cys322Gly) c.1189T>G (p.Cys397Gly) c.1174T>G (p.Cys392Gly) c.1146T>G (p.Ser382Arg) n.1178T>G c.553T>G (p.Cys185Gly) c.1042T>G (p.Cys348Gly) c.639T>G (p.Ser213Arg) c.388T>G (p.Cys130Gly) c.319+2147T>G c.1272T>G (p.Ser424Arg) | |
11 | g.71435665A>G | CA6162305 | DHCR7 | c.1138T>C (p.Cys380Arg) c.964T>C (p.Cys322Arg) c.1189T>C (p.Cys397Arg) c.1174T>C (p.Cys392Arg) c.1146T>C (p.Ser382=) n.1178T>C c.553T>C (p.Cys185Arg) c.1042T>C (p.Cys348Arg) c.639T>C (p.Ser213=) c.388T>C (p.Cys130Arg) c.319+2147T>C c.1272T>C (p.Ser424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435665A>T | CA381701864 | DHCR7 | c.1138T>A (p.Cys380Ser) c.964T>A (p.Cys322Ser) c.1189T>A (p.Cys397Ser) c.1174T>A (p.Cys392Ser) c.1146T>A (p.Ser382Arg) n.1178T>A c.553T>A (p.Cys185Ser) c.1042T>A (p.Cys348Ser) c.639T>A (p.Ser213Arg) c.388T>A (p.Cys130Ser) c.319+2147T>A c.1272T>A (p.Ser424Arg) | |
11 | g.71435666C>A | CA381701866 | DHCR7 | c.1137G>T (p.Glu379Asp) c.963G>T (p.Glu321Asp) c.1188G>T (p.Glu396Asp) c.1173G>T (p.Glu391Asp) c.1145G>T (p.Ser382Ile) n.1177G>T c.552G>T (p.Glu184Asp) c.1041G>T (p.Glu347Asp) c.638G>T (p.Ser213Ile) c.387G>T (p.Glu129Asp) c.319+2146G>T c.1271G>T (p.Ser424Ile) | |
11 | g.71435666C= | CA1981486948 | DHCR7 | c.1137G= (p.Glu379=) c.963G= (p.Glu321=) c.1188G= (p.Glu396=) c.1173G= (p.Glu391=) c.1145G= (p.Ser382=) n.1177G= c.552G= (p.Glu184=) c.1041G= (p.Glu347=) c.638G= (p.Ser213=) c.387G= (p.Glu129=) c.319+2146G= c.1271G= (p.Ser424=) | |
11 | g.71435666C>G | CA381701869 | DHCR7 | c.1137G>C (p.Glu379Asp) c.963G>C (p.Glu321Asp) c.1188G>C (p.Glu396Asp) c.1173G>C (p.Glu391Asp) c.1145G>C (p.Ser382Thr) n.1177G>C c.552G>C (p.Glu184Asp) c.1041G>C (p.Glu347Asp) c.638G>C (p.Ser213Thr) c.387G>C (p.Glu129Asp) c.319+2146G>C c.1271G>C (p.Ser424Thr) | |
11 | g.71435666C>T | CA224324370 | DHCR7 | c.1137G>A (p.Glu379=) c.963G>A (p.Glu321=) c.1188G>A (p.Glu396=) c.1173G>A (p.Glu391=) c.1145G>A (p.Ser382Asn) n.1177G>A c.552G>A (p.Glu184=) c.1041G>A (p.Glu347=) c.638G>A (p.Ser213Asn) c.387G>A (p.Glu129=) c.319+2146G>A c.1271G>A (p.Ser424Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435667T>A | CA381701871 | DHCR7 | c.1136A>T (p.Glu379Val) c.962A>T (p.Glu321Val) c.1187A>T (p.Glu396Val) c.1172A>T (p.Glu391Val) c.1144A>T (p.Ser382Cys) n.1176A>T c.551A>T (p.Glu184Val) c.1040A>T (p.Glu347Val) c.637A>T (p.Ser213Cys) c.386A>T (p.Glu129Val) c.319+2145A>T c.1270A>T (p.Ser424Cys) | |
11 | g.71435667T>C | CA381701873 | DHCR7 | c.1136A>G (p.Glu379Gly) c.962A>G (p.Glu321Gly) c.1187A>G (p.Glu396Gly) c.1172A>G (p.Glu391Gly) c.1144A>G (p.Ser382Gly) n.1176A>G c.551A>G (p.Glu184Gly) c.1040A>G (p.Glu347Gly) c.637A>G (p.Ser213Gly) c.386A>G (p.Glu129Gly) c.319+2145A>G c.1270A>G (p.Ser424Gly) | gnomAD v4 |
11 | g.71435667T>G | CA381701875 | DHCR7 | c.1136A>C (p.Glu379Ala) c.962A>C (p.Glu321Ala) c.1187A>C (p.Glu396Ala) c.1172A>C (p.Glu391Ala) c.1144A>C (p.Ser382Arg) n.1176A>C c.551A>C (p.Glu184Ala) c.1040A>C (p.Glu347Ala) c.637A>C (p.Ser213Arg) c.386A>C (p.Glu129Ala) c.319+2145A>C c.1270A>C (p.Ser424Arg) | |
11 | g.71435668C>A | CA381701876 | DHCR7 | c.1135G>T (p.Glu379Ter) c.961G>T (p.Glu321Ter) c.1186G>T (p.Glu396Ter) c.1171G>T (p.Glu391Ter) c.1143G>T (p.Ser381=) n.1175G>T c.550G>T (p.Glu184Ter) c.1039G>T (p.Glu347Ter) c.636G>T (p.Ser212=) c.385G>T (p.Glu129Ter) c.319+2144G>T c.1269G>T (p.Ser423=) | |
11 | g.71435668C= | CA1981486949 | DHCR7 | c.1135G= (p.Glu379=) c.961G= (p.Glu321=) c.1186G= (p.Glu396=) c.1171G= (p.Glu391=) c.1143G= (p.Ser381=) n.1175G= c.550G= (p.Glu184=) c.1039G= (p.Glu347=) c.636G= (p.Ser212=) c.385G= (p.Glu129=) c.319+2144G= c.1269G= (p.Ser423=) | |
11 | g.71435668C>G | CA381701878 | DHCR7 | c.1135G>C (p.Glu379Gln) c.961G>C (p.Glu321Gln) c.1186G>C (p.Glu396Gln) c.1171G>C (p.Glu391Gln) c.1143G>C (p.Ser381=) n.1175G>C c.550G>C (p.Glu184Gln) c.1039G>C (p.Glu347Gln) c.636G>C (p.Ser212=) c.385G>C (p.Glu129Gln) c.319+2144G>C c.1269G>C (p.Ser423=) | gnomAD v4 |
11 | g.71435668C>T | CA6162306 | DHCR7 | c.1135G>A (p.Glu379Lys) c.961G>A (p.Glu321Lys) c.1186G>A (p.Glu396Lys) c.1171G>A (p.Glu391Lys) c.1143G>A (p.Ser381=) n.1175G>A c.550G>A (p.Glu184Lys) c.1039G>A (p.Glu347Lys) c.636G>A (p.Ser212=) c.385G>A (p.Glu129Lys) c.319+2144G>A c.1269G>A (p.Ser423=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435669G>A | CA6162307 | DHCR7 | c.1134C>T (p.Ile378=) c.960C>T (p.Ile320=) c.1185C>T (p.Ile395=) c.1170C>T (p.Ile390=) c.1142C>T (p.Ser381Leu) n.1174C>T c.549C>T (p.Ile183=) c.1038C>T (p.Ile346=) c.635C>T (p.Ser212Leu) c.384C>T (p.Ile128=) c.319+2143C>T c.1268C>T (p.Ser423Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435669G>C | CA6162308 | DHCR7 | c.1134C>G (p.Ile378Met) c.960C>G (p.Ile320Met) c.1185C>G (p.Ile395Met) c.1170C>G (p.Ile390Met) c.1142C>G (p.Ser381Trp) n.1174C>G c.549C>G (p.Ile183Met) c.1038C>G (p.Ile346Met) c.635C>G (p.Ser212Trp) c.384C>G (p.Ile128Met) c.319+2143C>G c.1268C>G (p.Ser423Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435669G= | CA1981486950 | DHCR7 | c.1134C= (p.Ile378=) c.960C= (p.Ile320=) c.1185C= (p.Ile395=) c.1170C= (p.Ile390=) c.1142C= (p.Ser381=) n.1174C= c.549C= (p.Ile183=) c.1038C= (p.Ile346=) c.635C= (p.Ser212=) c.384C= (p.Ile128=) c.319+2143C= c.1268C= (p.Ser423=) | |
11 | g.71435669G>T | CA381701883 | DHCR7 | c.1134C>A (p.Ile378=) c.960C>A (p.Ile320=) c.1185C>A (p.Ile395=) c.1170C>A (p.Ile390=) c.1142C>A (p.Ser381Ter) n.1174C>A c.549C>A (p.Ile183=) c.1038C>A (p.Ile346=) c.635C>A (p.Ser212Ter) c.384C>A (p.Ile128=) c.319+2143C>A c.1268C>A (p.Ser423Ter) | |
11 | g.71435670A>C | CA381701885 | DHCR7 | c.1133T>G (p.Ile378Ser) c.959T>G (p.Ile320Ser) c.1184T>G (p.Ile395Ser) c.1169T>G (p.Ile390Ser) c.1141T>G (p.Ser381Ala) n.1173T>G c.548T>G (p.Ile183Ser) c.1037T>G (p.Ile346Ser) c.634T>G (p.Ser212Ala) c.383T>G (p.Ile128Ser) c.319+2142T>G c.1267T>G (p.Ser423Ala) | |
11 | g.71435670A>G | CA381701886 | DHCR7 | c.1133T>C (p.Ile378Thr) c.959T>C (p.Ile320Thr) c.1184T>C (p.Ile395Thr) c.1169T>C (p.Ile390Thr) c.1141T>C (p.Ser381Pro) n.1173T>C c.548T>C (p.Ile183Thr) c.1037T>C (p.Ile346Thr) c.634T>C (p.Ser212Pro) c.383T>C (p.Ile128Thr) c.319+2142T>C c.1267T>C (p.Ser423Pro) | gnomAD v4 |
11 | g.71435670A>T | CA381701888 | DHCR7 | c.1133T>A (p.Ile378Asn) c.959T>A (p.Ile320Asn) c.1184T>A (p.Ile395Asn) c.1169T>A (p.Ile390Asn) c.1141T>A (p.Ser381Thr) n.1173T>A c.548T>A (p.Ile183Asn) c.1037T>A (p.Ile346Asn) c.634T>A (p.Ser212Thr) c.383T>A (p.Ile128Asn) c.319+2142T>A c.1267T>A (p.Ser423Thr) | |
11 | g.71435671T>A | CA381701892 | DHCR7 | c.1132A>T (p.Ile378Phe) c.958A>T (p.Ile320Phe) c.1183A>T (p.Ile395Phe) c.1168A>T (p.Ile390Phe) c.1140A>T (p.Ser380=) n.1172A>T c.547A>T (p.Ile183Phe) c.1036A>T (p.Ile346Phe) c.633A>T (p.Ser211=) c.382A>T (p.Ile128Phe) c.319+2141A>T c.1266A>T (p.Ser422=) | |
11 | g.71435671T>C | CA381701894 | DHCR7 | c.1132A>G (p.Ile378Val) c.958A>G (p.Ile320Val) c.1183A>G (p.Ile395Val) c.1168A>G (p.Ile390Val) c.1140A>G (p.Ser380=) n.1172A>G c.547A>G (p.Ile183Val) c.1036A>G (p.Ile346Val) c.633A>G (p.Ser211=) c.382A>G (p.Ile128Val) c.319+2141A>G c.1266A>G (p.Ser422=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435671T>G | CA381701890 | DHCR7 | c.1132A>C (p.Ile378Leu) c.958A>C (p.Ile320Leu) c.1183A>C (p.Ile395Leu) c.1168A>C (p.Ile390Leu) c.1140A>C (p.Ser380=) n.1172A>C c.547A>C (p.Ile183Leu) c.1036A>C (p.Ile346Leu) c.633A>C (p.Ser211=) c.382A>C (p.Ile128Leu) c.319+2141A>C c.1266A>C (p.Ser422=) | |
11 | g.71435671T= | CA1981486951 | DHCR7 | c.1132A= (p.Ile378=) c.958A= (p.Ile320=) c.1183A= (p.Ile395=) c.1168A= (p.Ile390=) c.1140A= (p.Ser380=) n.1172A= c.547A= (p.Ile183=) c.1036A= (p.Ile346=) c.633A= (p.Ser211=) c.382A= (p.Ile128=) c.319+2141A= c.1266A= (p.Ser422=) | |
11 | g.71435672G>A | CA381701896 | DHCR7 | c.1131C>T (p.Val377=) c.957C>T (p.Val319=) c.1182C>T (p.Val394=) c.1167C>T (p.Val389=) c.1139C>T (p.Ser380Leu) n.1171C>T c.546C>T (p.Val182=) c.1035C>T (p.Val345=) c.632C>T (p.Ser211Leu) c.381C>T (p.Val127=) c.319+2140C>T c.1265C>T (p.Ser422Leu) | |
11 | g.71435672G>C | CA381701897 | DHCR7 | c.1131C>G (p.Val377=) c.957C>G (p.Val319=) c.1182C>G (p.Val394=) c.1167C>G (p.Val389=) c.1139C>G (p.Ser380Ter) n.1171C>G c.546C>G (p.Val182=) c.1035C>G (p.Val345=) c.632C>G (p.Ser211Ter) c.381C>G (p.Val127=) c.319+2140C>G c.1265C>G (p.Ser422Ter) | |
11 | g.71435672G>T | CA381701899 | DHCR7 | c.1131C>A (p.Val377=) c.957C>A (p.Val319=) c.1182C>A (p.Val394=) c.1167C>A (p.Val389=) c.1139C>A (p.Ser380Ter) n.1171C>A c.546C>A (p.Val182=) c.1035C>A (p.Val345=) c.632C>A (p.Ser211Ter) c.381C>A (p.Val127=) c.319+2140C>A c.1265C>A (p.Ser422Ter) | ClinVar dbSNP |
11 | g.71435673A>C | CA381701902 | DHCR7 | c.1130T>G (p.Val377Gly) c.956T>G (p.Val319Gly) c.1181T>G (p.Val394Gly) c.1166T>G (p.Val389Gly) c.1138T>G (p.Ser380Ala) n.1170T>G c.545T>G (p.Val182Gly) c.1034T>G (p.Val345Gly) c.631T>G (p.Ser211Ala) c.380T>G (p.Val127Gly) c.319+2139T>G c.1264T>G (p.Ser422Ala) | |
11 | g.71435673A>G | CA381701904 | DHCR7 | c.1130T>C (p.Val377Ala) c.956T>C (p.Val319Ala) c.1181T>C (p.Val394Ala) c.1166T>C (p.Val389Ala) c.1138T>C (p.Ser380Pro) n.1170T>C c.545T>C (p.Val182Ala) c.1034T>C (p.Val345Ala) c.631T>C (p.Ser211Pro) c.380T>C (p.Val127Ala) c.319+2139T>C c.1264T>C (p.Ser422Pro) | |
11 | g.71435673A>T | CA381701905 | DHCR7 | c.1130T>A (p.Val377Asp) c.956T>A (p.Val319Asp) c.1181T>A (p.Val394Asp) c.1166T>A (p.Val389Asp) c.1138T>A (p.Ser380Thr) n.1170T>A c.545T>A (p.Val182Asp) c.1034T>A (p.Val345Asp) c.631T>A (p.Ser211Thr) c.380T>A (p.Val127Asp) c.319+2139T>A c.1264T>A (p.Ser422Thr) | |
11 | g.71435674C>A | CA381701911 | DHCR7 | c.1129G>T (p.Val377Phe) c.955G>T (p.Val319Phe) c.1180G>T (p.Val394Phe) c.1165G>T (p.Val389Phe) c.1137G>T (p.Arg379Ser) n.1169G>T c.544G>T (p.Val182Phe) c.1033G>T (p.Val345Phe) c.630G>T (p.Arg210Ser) c.379G>T (p.Val127Phe) c.319+2138G>T c.1263G>T (p.Arg421Ser) | |
11 | g.71435674C>G | CA381701909 | DHCR7 | c.1129G>C (p.Val377Leu) c.955G>C (p.Val319Leu) c.1180G>C (p.Val394Leu) c.1165G>C (p.Val389Leu) c.1137G>C (p.Arg379Ser) n.1169G>C c.544G>C (p.Val182Leu) c.1033G>C (p.Val345Leu) c.630G>C (p.Arg210Ser) c.379G>C (p.Val127Leu) c.319+2138G>C c.1263G>C (p.Arg421Ser) | |
11 | g.71435674C>T | CA381701907 | DHCR7 | c.1129G>A (p.Val377Ile) c.955G>A (p.Val319Ile) c.1180G>A (p.Val394Ile) c.1165G>A (p.Val389Ile) c.1137G>A (p.Arg379=) n.1169G>A c.544G>A (p.Val182Ile) c.1033G>A (p.Val345Ile) c.630G>A (p.Arg210=) c.379G>A (p.Val127Ile) c.319+2138G>A c.1263G>A (p.Arg421=) | |
11 | g.71435675C>A | CA381701913 | DHCR7 | c.1128G>T (p.Lys376Asn) c.954G>T (p.Lys318Asn) c.1179G>T (p.Lys393Asn) c.1164G>T (p.Lys388Asn) c.1136G>T (p.Arg379Met) n.1168G>T c.543G>T (p.Lys181Asn) c.1032G>T (p.Lys344Asn) c.629G>T (p.Arg210Met) c.378G>T (p.Lys126Asn) c.319+2137G>T c.1262G>T (p.Arg421Met) | |
11 | g.71435675C>G | CA381701915 | DHCR7 | c.1128G>C (p.Lys376Asn) c.954G>C (p.Lys318Asn) c.1179G>C (p.Lys393Asn) c.1164G>C (p.Lys388Asn) c.1136G>C (p.Arg379Thr) n.1168G>C c.543G>C (p.Lys181Asn) c.1032G>C (p.Lys344Asn) c.629G>C (p.Arg210Thr) c.378G>C (p.Lys126Asn) c.319+2137G>C c.1262G>C (p.Arg421Thr) | |
11 | g.71435675C>T | CA381701916 | DHCR7 | c.1128G>A (p.Lys376=) c.954G>A (p.Lys318=) c.1179G>A (p.Lys393=) c.1164G>A (p.Lys388=) c.1136G>A (p.Arg379Lys) n.1168G>A c.543G>A (p.Lys181=) c.1032G>A (p.Lys344=) c.629G>A (p.Arg210Lys) c.378G>A (p.Lys126=) c.319+2137G>A c.1262G>A (p.Arg421Lys) | |
11 | g.71435676T>A | CA381701918 | DHCR7 | c.1127A>T (p.Lys376Met) c.953A>T (p.Lys318Met) c.1178A>T (p.Lys393Met) c.1163A>T (p.Lys388Met) c.1135A>T (p.Arg379Trp) n.1167A>T c.542A>T (p.Lys181Met) c.1031A>T (p.Lys344Met) c.628A>T (p.Arg210Trp) c.377A>T (p.Lys126Met) c.319+2136A>T c.1261A>T (p.Arg421Trp) | |
11 | g.71435676T>C | CA6162309 | DHCR7 | c.1127A>G (p.Lys376Arg) c.953A>G (p.Lys318Arg) c.1178A>G (p.Lys393Arg) c.1163A>G (p.Lys388Arg) c.1135A>G (p.Arg379Gly) n.1167A>G c.542A>G (p.Lys181Arg) c.1031A>G (p.Lys344Arg) c.628A>G (p.Arg210Gly) c.377A>G (p.Lys126Arg) c.319+2136A>G c.1261A>G (p.Arg421Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435676T>G | CA381701921 | DHCR7 | c.1127A>C (p.Lys376Thr) c.953A>C (p.Lys318Thr) c.1178A>C (p.Lys393Thr) c.1163A>C (p.Lys388Thr) c.1135A>C (p.Arg379=) n.1167A>C c.542A>C (p.Lys181Thr) c.1031A>C (p.Lys344Thr) c.628A>C (p.Arg210=) c.377A>C (p.Lys126Thr) c.319+2136A>C c.1261A>C (p.Arg421=) | |
11 | g.71435676T= | CA1981486952 | DHCR7 | c.1127A= (p.Lys376=) c.953A= (p.Lys318=) c.1178A= (p.Lys393=) c.1163A= (p.Lys388=) c.1135A= (p.Arg379=) n.1167A= c.542A= (p.Lys181=) c.1031A= (p.Lys344=) c.628A= (p.Arg210=) c.377A= (p.Lys126=) c.319+2136A= c.1261A= (p.Arg421=) | |
11 | g.71435677del | CA658820688 | DHCR7 | c.1127del (p.Lys376ArgfsTer?) c.953del (p.Lys318ArgfsTer?) c.1178del (p.Lys393ArgfsTer?) c.1163del (p.Lys388ArgfsTer?) c.1135del (p.Arg379GlyfsTer?) n.1167del c.542del (p.Lys181ArgfsTer?) c.1031del (p.Lys344ArgfsTer?) c.628del (p.Arg210GlyfsTer?) c.377del (p.Lys126ArgfsTer?) c.319+2136del c.1261del (p.Arg421GlyfsTer?) | |
11 | g.71435677T>A | CA381701924 | DHCR7 | c.1126A>T (p.Lys376Ter) c.952A>T (p.Lys318Ter) c.1177A>T (p.Lys393Ter) c.1162A>T (p.Lys388Ter) c.1134A>T (p.Pro378=) n.1166A>T c.541A>T (p.Lys181Ter) c.1030A>T (p.Lys344Ter) c.627A>T (p.Pro209=) c.376A>T (p.Lys126Ter) c.319+2135A>T c.1260A>T (p.Pro420=) | |
11 | g.71435677T>C | CA6162310 | DHCR7 | c.1126A>G (p.Lys376Glu) c.952A>G (p.Lys318Glu) c.1177A>G (p.Lys393Glu) c.1162A>G (p.Lys388Glu) c.1134A>G (p.Pro378=) n.1166A>G c.541A>G (p.Lys181Glu) c.1030A>G (p.Lys344Glu) c.627A>G (p.Pro209=) c.376A>G (p.Lys126Glu) c.319+2135A>G c.1260A>G (p.Pro420=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435677T>G | CA381701925 | DHCR7 | c.1126A>C (p.Lys376Gln) c.952A>C (p.Lys318Gln) c.1177A>C (p.Lys393Gln) c.1162A>C (p.Lys388Gln) c.1134A>C (p.Pro378=) n.1166A>C c.541A>C (p.Lys181Gln) c.1030A>C (p.Lys344Gln) c.627A>C (p.Pro209=) c.376A>C (p.Lys126Gln) c.319+2135A>C c.1260A>C (p.Pro420=) | |
11 | g.71435677T= | CA1981486953 | DHCR7 | c.1126A= (p.Lys376=) c.952A= (p.Lys318=) c.1177A= (p.Lys393=) c.1162A= (p.Lys388=) c.1134A= (p.Pro378=) n.1166A= c.541A= (p.Lys181=) c.1030A= (p.Lys344=) c.627A= (p.Pro209=) c.376A= (p.Lys126=) c.319+2135A= c.1260A= (p.Pro420=) | |
11 | g.71435678G>A | CA381701929 | DHCR7 | c.1125C>T (p.Pro375=) c.951C>T (p.Pro317=) c.1176C>T (p.Pro392=) c.1161C>T (p.Pro387=) c.1133C>T (p.Pro378Leu) n.1165C>T c.540C>T (p.Pro180=) c.1029C>T (p.Pro343=) c.626C>T (p.Pro209Leu) c.375C>T (p.Pro125=) c.319+2134C>T c.1259C>T (p.Pro420Leu) | |
11 | g.71435678G>C | CA381701930 | DHCR7 | c.1125C>G (p.Pro375=) c.951C>G (p.Pro317=) c.1176C>G (p.Pro392=) c.1161C>G (p.Pro387=) c.1133C>G (p.Pro378Arg) n.1165C>G c.540C>G (p.Pro180=) c.1029C>G (p.Pro343=) c.626C>G (p.Pro209Arg) c.375C>G (p.Pro125=) c.319+2134C>G c.1259C>G (p.Pro420Arg) | |
11 | g.71435678G>T | CA381701931 | DHCR7 | c.1125C>A (p.Pro375=) c.951C>A (p.Pro317=) c.1176C>A (p.Pro392=) c.1161C>A (p.Pro387=) c.1133C>A (p.Pro378Gln) n.1165C>A c.540C>A (p.Pro180=) c.1029C>A (p.Pro343=) c.626C>A (p.Pro209Gln) c.375C>A (p.Pro125=) c.319+2134C>A c.1259C>A (p.Pro420Gln) | |
11 | g.71435679G>A | CA381701934 | DHCR7 | c.1124C>T (p.Pro375Leu) c.950C>T (p.Pro317Leu) c.1175C>T (p.Pro392Leu) c.1160C>T (p.Pro387Leu) c.1132C>T (p.Pro378Ser) n.1164C>T c.539C>T (p.Pro180Leu) c.1028C>T (p.Pro343Leu) c.625C>T (p.Pro209Ser) c.374C>T (p.Pro125Leu) c.319+2133C>T c.1258C>T (p.Pro420Ser) | gnomAD v4 |
11 | g.71435679G>C | CA381701936 | DHCR7 | c.1124C>G (p.Pro375Arg) c.950C>G (p.Pro317Arg) c.1175C>G (p.Pro392Arg) c.1160C>G (p.Pro387Arg) c.1132C>G (p.Pro378Ala) n.1164C>G c.539C>G (p.Pro180Arg) c.1028C>G (p.Pro343Arg) c.625C>G (p.Pro209Ala) c.374C>G (p.Pro125Arg) c.319+2133C>G c.1258C>G (p.Pro420Ala) | ClinVar |
11 | g.71435679G>T | CA381701937 | DHCR7 | c.1124C>A (p.Pro375His) c.950C>A (p.Pro317His) c.1175C>A (p.Pro392His) c.1160C>A (p.Pro387His) c.1132C>A (p.Pro378Thr) n.1164C>A c.539C>A (p.Pro180His) c.1028C>A (p.Pro343His) c.625C>A (p.Pro209Thr) c.374C>A (p.Pro125His) c.319+2133C>A c.1258C>A (p.Pro420Thr) | |
11 | g.71435680G>A | CA381701939 | DHCR7 | c.1123C>T (p.Pro375Ser) c.949C>T (p.Pro317Ser) c.1174C>T (p.Pro392Ser) c.1159C>T (p.Pro387Ser) c.1131C>T (p.Ser377=) n.1163C>T c.538C>T (p.Pro180Ser) c.1027C>T (p.Pro343Ser) c.624C>T (p.Ser208=) c.373C>T (p.Pro125Ser) c.319+2132C>T c.1257C>T (p.Ser419=) | |
11 | g.71435680G>C | CA381701941 | DHCR7 | c.1123C>G (p.Pro375Ala) c.949C>G (p.Pro317Ala) c.1174C>G (p.Pro392Ala) c.1159C>G (p.Pro387Ala) c.1131C>G (p.Ser377Arg) n.1163C>G c.538C>G (p.Pro180Ala) c.1027C>G (p.Pro343Ala) c.624C>G (p.Ser208Arg) c.373C>G (p.Pro125Ala) c.319+2132C>G c.1257C>G (p.Ser419Arg) | |
11 | g.71435680G>T | CA381701942 | DHCR7 | c.1123C>A (p.Pro375Thr) c.949C>A (p.Pro317Thr) c.1174C>A (p.Pro392Thr) c.1159C>A (p.Pro387Thr) c.1131C>A (p.Ser377Arg) n.1163C>A c.538C>A (p.Pro180Thr) c.1027C>A (p.Pro343Thr) c.624C>A (p.Ser208Arg) c.373C>A (p.Pro125Thr) c.319+2132C>A c.1257C>A (p.Ser419Arg) | gnomAD v4 |
11 | g.71435681C>A | CA381701945 | DHCR7 | c.1122G>T (p.Lys374Asn) c.948G>T (p.Lys316Asn) c.1173G>T (p.Lys391Asn) c.1158G>T (p.Lys386Asn) c.1130G>T (p.Ser377Ile) n.1162G>T c.537G>T (p.Lys179Asn) c.1026G>T (p.Lys342Asn) c.623G>T (p.Ser208Ile) c.372G>T (p.Lys124Asn) c.319+2131G>T c.1256G>T (p.Ser419Ile) | gnomAD v4 |
11 | g.71435681C>G | CA381701947 | DHCR7 | c.1122G>C (p.Lys374Asn) c.948G>C (p.Lys316Asn) c.1173G>C (p.Lys391Asn) c.1158G>C (p.Lys386Asn) c.1130G>C (p.Ser377Thr) n.1162G>C c.537G>C (p.Lys179Asn) c.1026G>C (p.Lys342Asn) c.623G>C (p.Ser208Thr) c.372G>C (p.Lys124Asn) c.319+2131G>C c.1256G>C (p.Ser419Thr) | |
11 | g.71435681C>T | CA381701948 | DHCR7 | c.1122G>A (p.Lys374=) c.948G>A (p.Lys316=) c.1173G>A (p.Lys391=) c.1158G>A (p.Lys386=) c.1130G>A (p.Ser377Asn) n.1162G>A c.537G>A (p.Lys179=) c.1026G>A (p.Lys342=) c.623G>A (p.Ser208Asn) c.372G>A (p.Lys124=) c.319+2131G>A c.1256G>A (p.Ser419Asn) | gnomAD v4 |
11 | g.71435683_71435686del | CA2614857186 | DHCR7 | c.1119_1122del (p.Arg373SerfsTer?) c.945_948del (p.Arg315SerfsTer?) c.1170_1173del (p.Arg390SerfsTer?) c.1155_1158del (p.Arg385SerfsTer?) c.1127_1130del (p.Gly376AlafsTer?) n.1159_1162del c.534_537del (p.Arg178SerfsTer?) c.1023_1026del (p.Arg341SerfsTer?) c.620_623del (p.Gly207AlafsTer?) c.369_372del (p.Arg123SerfsTer?) c.319+2128_319+2131del c.1253_1256del (p.Gly418AlafsTer?) | gnomAD v4 |
11 | g.71435682T>A | CA381701951 | DHCR7 | c.1121A>T (p.Lys374Met) c.947A>T (p.Lys316Met) c.1172A>T (p.Lys391Met) c.1157A>T (p.Lys386Met) c.1129A>T (p.Ser377Cys) n.1161A>T c.536A>T (p.Lys179Met) c.1025A>T (p.Lys342Met) c.622A>T (p.Ser208Cys) c.371A>T (p.Lys124Met) c.319+2130A>T c.1255A>T (p.Ser419Cys) | |
11 | g.71435682T>C | CA381701955 | DHCR7 | c.1121A>G (p.Lys374Arg) c.947A>G (p.Lys316Arg) c.1172A>G (p.Lys391Arg) c.1157A>G (p.Lys386Arg) c.1129A>G (p.Ser377Gly) n.1161A>G c.536A>G (p.Lys179Arg) c.1025A>G (p.Lys342Arg) c.622A>G (p.Ser208Gly) c.371A>G (p.Lys124Arg) c.319+2130A>G c.1255A>G (p.Ser419Gly) | |
11 | g.71435682T>G | CA381701953 | DHCR7 | c.1121A>C (p.Lys374Thr) c.947A>C (p.Lys316Thr) c.1172A>C (p.Lys391Thr) c.1157A>C (p.Lys386Thr) c.1129A>C (p.Ser377Arg) n.1161A>C c.536A>C (p.Lys179Thr) c.1025A>C (p.Lys342Thr) c.622A>C (p.Ser208Arg) c.371A>C (p.Lys124Thr) c.319+2130A>C c.1255A>C (p.Ser419Arg) | |
11 | g.71435683T>A | CA381701957 | DHCR7 | c.1120A>T (p.Lys374Ter) c.946A>T (p.Lys316Ter) c.1171A>T (p.Lys391Ter) c.1156A>T (p.Lys386Ter) c.1128A>T (p.Gly376=) n.1160A>T c.535A>T (p.Lys179Ter) c.1024A>T (p.Lys342Ter) c.621A>T (p.Gly207=) c.370A>T (p.Lys124Ter) c.319+2129A>T c.1254A>T (p.Gly418=) | |
11 | g.71435683T>C | CA381701958 | DHCR7 | c.1120A>G (p.Lys374Glu) c.946A>G (p.Lys316Glu) c.1171A>G (p.Lys391Glu) c.1156A>G (p.Lys386Glu) c.1128A>G (p.Gly376=) n.1160A>G c.535A>G (p.Lys179Glu) c.1024A>G (p.Lys342Glu) c.621A>G (p.Gly207=) c.370A>G (p.Lys124Glu) c.319+2129A>G c.1254A>G (p.Gly418=) | |
11 | g.71435683T>G | CA381701960 | DHCR7 | c.1120A>C (p.Lys374Gln) c.946A>C (p.Lys316Gln) c.1171A>C (p.Lys391Gln) c.1156A>C (p.Lys386Gln) c.1128A>C (p.Gly376=) n.1160A>C c.535A>C (p.Lys179Gln) c.1024A>C (p.Lys342Gln) c.621A>C (p.Gly207=) c.370A>C (p.Lys124Gln) c.319+2129A>C c.1254A>C (p.Gly418=) | |
11 | g.71435684C>A | CA381701962 | DHCR7 | c.1119G>T (p.Arg373Ser) c.945G>T (p.Arg315Ser) c.1170G>T (p.Arg390Ser) c.1155G>T (p.Arg385Ser) c.1127G>T (p.Gly376Val) n.1159G>T c.534G>T (p.Arg178Ser) c.1023G>T (p.Arg341Ser) c.620G>T (p.Gly207Val) c.369G>T (p.Arg123Ser) c.319+2128G>T c.1253G>T (p.Gly418Val) | |
11 | g.71435684C= | CA1981486954 | DHCR7 | c.1119G= (p.Arg373=) c.945G= (p.Arg315=) c.1170G= (p.Arg390=) c.1155G= (p.Arg385=) c.1127G= (p.Gly376=) n.1159G= c.534G= (p.Arg178=) c.1023G= (p.Arg341=) c.620G= (p.Gly207=) c.369G= (p.Arg123=) c.319+2128G= c.1253G= (p.Gly418=) | |
11 | g.71435684C>G | CA381701964 | DHCR7 | c.1119G>C (p.Arg373Ser) c.945G>C (p.Arg315Ser) c.1170G>C (p.Arg390Ser) c.1155G>C (p.Arg385Ser) c.1127G>C (p.Gly376Ala) n.1159G>C c.534G>C (p.Arg178Ser) c.1023G>C (p.Arg341Ser) c.620G>C (p.Gly207Ala) c.369G>C (p.Arg123Ser) c.319+2128G>C c.1253G>C (p.Gly418Ala) | |
11 | g.71435684C>T | CA381701966 | DHCR7 | c.1119G>A (p.Arg373=) c.945G>A (p.Arg315=) c.1170G>A (p.Arg390=) c.1155G>A (p.Arg385=) c.1127G>A (p.Gly376Glu) n.1159G>A c.534G>A (p.Arg178=) c.1023G>A (p.Arg341=) c.620G>A (p.Gly207Glu) c.369G>A (p.Arg123=) c.319+2128G>A c.1253G>A (p.Gly418Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435685C>A | CA381701968 | DHCR7 | c.1118G>T (p.Arg373Met) c.944G>T (p.Arg315Met) c.1169G>T (p.Arg390Met) c.1154G>T (p.Arg385Met) c.1126G>T (p.Gly376Ter) n.1158G>T c.533G>T (p.Arg178Met) c.1022G>T (p.Arg341Met) c.619G>T (p.Gly207Ter) c.368G>T (p.Arg123Met) c.319+2127G>T c.1252G>T (p.Gly418Ter) | COSMIC COSMIC |
11 | g.71435685C>G | CA381701970 | DHCR7 | c.1118G>C (p.Arg373Thr) c.944G>C (p.Arg315Thr) c.1169G>C (p.Arg390Thr) c.1154G>C (p.Arg385Thr) c.1126G>C (p.Gly376Arg) n.1158G>C c.533G>C (p.Arg178Thr) c.1022G>C (p.Arg341Thr) c.619G>C (p.Gly207Arg) c.368G>C (p.Arg123Thr) c.319+2127G>C c.1252G>C (p.Gly418Arg) | |
11 | g.71435685C>T | CA381701972 | DHCR7 | c.1118G>A (p.Arg373Lys) c.944G>A (p.Arg315Lys) c.1169G>A (p.Arg390Lys) c.1154G>A (p.Arg385Lys) c.1126G>A (p.Gly376Arg) n.1158G>A c.533G>A (p.Arg178Lys) c.1022G>A (p.Arg341Lys) c.619G>A (p.Gly207Arg) c.368G>A (p.Arg123Lys) c.319+2127G>A c.1252G>A (p.Gly418Arg) | gnomAD v4 |
11 | g.71435685_71435686insGGAA | CA2614857187 | DHCR7 | c.1117_1118insTTCC (p.Arg373IlefsTer?) c.943_944insTTCC (p.Arg315IlefsTer?) c.1168_1169insTTCC (p.Arg390IlefsTer?) c.1153_1154insTTCC (p.Arg385IlefsTer?) c.1125_1126insTTCC (p.Gly376PhefsTer?) n.1157_1158insTTCC c.532_533insTTCC (p.Arg178IlefsTer?) c.1021_1022insTTCC (p.Arg341IlefsTer?) c.618_619insTTCC (p.Gly207PhefsTer?) c.367_368insTTCC (p.Arg123IlefsTer?) c.319+2126_319+2127insTTCC c.1251_1252insTTCC (p.Gly418PhefsTer?) | gnomAD v4 |
11 | g.71435686T>A | CA381701974 | DHCR7 | c.1117A>T (p.Arg373Trp) c.943A>T (p.Arg315Trp) c.1168A>T (p.Arg390Trp) c.1153A>T (p.Arg385Trp) c.1125A>T (p.Ala375=) n.1157A>T c.532A>T (p.Arg178Trp) c.1021A>T (p.Arg341Trp) c.618A>T (p.Ala206=) c.367A>T (p.Arg123Trp) c.319+2126A>T c.1251A>T (p.Ala417=) | |
11 | g.71435686T>C | CA381701976 | DHCR7 | c.1117A>G (p.Arg373Gly) c.943A>G (p.Arg315Gly) c.1168A>G (p.Arg390Gly) c.1153A>G (p.Arg385Gly) c.1125A>G (p.Ala375=) n.1157A>G c.532A>G (p.Arg178Gly) c.1021A>G (p.Arg341Gly) c.618A>G (p.Ala206=) c.367A>G (p.Arg123Gly) c.319+2126A>G c.1251A>G (p.Ala417=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435686T>G | CA475861114 | DHCR7 | c.1117A>C (p.Arg373=) c.943A>C (p.Arg315=) c.1168A>C (p.Arg390=) c.1153A>C (p.Arg385=) c.1125A>C (p.Ala375=) n.1157A>C c.532A>C (p.Arg178=) c.1021A>C (p.Arg341=) c.618A>C (p.Ala206=) c.367A>C (p.Arg123=) c.319+2126A>C c.1251A>C (p.Ala417=) | |
11 | g.71435686T= | CA1981486955 | DHCR7 | c.1117A= (p.Arg373=) c.943A= (p.Arg315=) c.1168A= (p.Arg390=) c.1153A= (p.Arg385=) c.1125A= (p.Ala375=) n.1157A= c.532A= (p.Arg178=) c.1021A= (p.Arg341=) c.618A= (p.Ala206=) c.367A= (p.Arg123=) c.319+2126A= c.1251A= (p.Ala417=) | |
11 | g.71435687G>A | CA381701982 | DHCR7 | c.1116C>T (p.Gly372=) c.942C>T (p.Gly314=) c.1167C>T (p.Gly389=) c.1152C>T (p.Gly384=) c.1124C>T (p.Ala375Val) n.1156C>T c.531C>T (p.Gly177=) c.1020C>T (p.Gly340=) c.617C>T (p.Ala206Val) c.366C>T (p.Gly122=) c.319+2125C>T c.1250C>T (p.Ala417Val) | |
11 | g.71435687G>C | CA381701980 | DHCR7 | c.1116C>G (p.Gly372=) c.942C>G (p.Gly314=) c.1167C>G (p.Gly389=) c.1152C>G (p.Gly384=) c.1124C>G (p.Ala375Gly) n.1156C>G c.531C>G (p.Gly177=) c.1020C>G (p.Gly340=) c.617C>G (p.Ala206Gly) c.366C>G (p.Gly122=) c.319+2125C>G c.1250C>G (p.Ala417Gly) | |
11 | g.71435687G>T | CA381701978 | DHCR7 | c.1116C>A (p.Gly372=) c.942C>A (p.Gly314=) c.1167C>A (p.Gly389=) c.1152C>A (p.Gly384=) c.1124C>A (p.Ala375Glu) n.1156C>A c.531C>A (p.Gly177=) c.1020C>A (p.Gly340=) c.617C>A (p.Ala206Glu) c.366C>A (p.Gly122=) c.319+2125C>A c.1250C>A (p.Ala417Glu) | |
11 | g.71435688C>A | CA381701985 | DHCR7 | c.1115G>T (p.Gly372Val) c.941G>T (p.Gly314Val) c.1166G>T (p.Gly389Val) c.1151G>T (p.Gly384Val) c.1123G>T (p.Ala375Ser) n.1155G>T c.530G>T (p.Gly177Val) c.1019G>T (p.Gly340Val) c.616G>T (p.Ala206Ser) c.365G>T (p.Gly122Val) c.319+2124G>T c.1249G>T (p.Ala417Ser) | |
11 | g.71435688C= | CA1981486956 | DHCR7 | c.1115G= (p.Gly372=) c.941G= (p.Gly314=) c.1166G= (p.Gly389=) c.1151G= (p.Gly384=) c.1123G= (p.Ala375=) n.1155G= c.530G= (p.Gly177=) c.1019G= (p.Gly340=) c.616G= (p.Ala206=) c.365G= (p.Gly122=) c.319+2124G= c.1249G= (p.Ala417=) | |
11 | g.71435688C>G | CA381701986 | DHCR7 | c.1115G>C (p.Gly372Ala) c.941G>C (p.Gly314Ala) c.1166G>C (p.Gly389Ala) c.1151G>C (p.Gly384Ala) c.1123G>C (p.Ala375Pro) n.1155G>C c.530G>C (p.Gly177Ala) c.1019G>C (p.Gly340Ala) c.616G>C (p.Ala206Pro) c.365G>C (p.Gly122Ala) c.319+2124G>C c.1249G>C (p.Ala417Pro) | |
11 | g.71435688C>T | CA381701987 | DHCR7 | c.1115G>A (p.Gly372Asp) c.941G>A (p.Gly314Asp) c.1166G>A (p.Gly389Asp) c.1151G>A (p.Gly384Asp) c.1123G>A (p.Ala375Thr) n.1155G>A c.530G>A (p.Gly177Asp) c.1019G>A (p.Gly340Asp) c.616G>A (p.Ala206Thr) c.365G>A (p.Gly122Asp) c.319+2124G>A c.1249G>A (p.Ala417Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435691del | CA2838257457 | DHCR7 | c.1115del (p.Gly372AlafsTer?) c.941del (p.Gly314AlafsTer?) c.1166del (p.Gly389AlafsTer?) c.1151del (p.Gly384AlafsTer?) c.1123del (p.Ala375GlnfsTer?) n.1155del c.530del (p.Gly177AlafsTer?) c.1019del (p.Gly340AlafsTer?) c.616del (p.Ala206GlnfsTer?) c.365del (p.Gly122AlafsTer?) c.319+2124del c.1249del (p.Ala417GlnfsTer?) | |
11 | g.71435689C>A | CA6162311 | DHCR7 | c.1114G>T (p.Gly372Cys) c.940G>T (p.Gly314Cys) c.1165G>T (p.Gly389Cys) c.1150G>T (p.Gly384Cys) c.1122G>T (p.Gly374=) n.1154G>T c.529G>T (p.Gly177Cys) c.1018G>T (p.Gly340Cys) c.615G>T (p.Gly205=) c.364G>T (p.Gly122Cys) c.319+2123G>T c.1248G>T (p.Gly416=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435689C= | CA1981486957 | DHCR7 | c.1114G= (p.Gly372=) c.940G= (p.Gly314=) c.1165G= (p.Gly389=) c.1150G= (p.Gly384=) c.1122G= (p.Gly374=) n.1154G= c.529G= (p.Gly177=) c.1018G= (p.Gly340=) c.615G= (p.Gly205=) c.364G= (p.Gly122=) c.319+2123G= c.1248G= (p.Gly416=) | |
11 | g.71435689C>G | CA381701988 | DHCR7 | c.1114G>C (p.Gly372Arg) c.940G>C (p.Gly314Arg) c.1165G>C (p.Gly389Arg) c.1150G>C (p.Gly384Arg) c.1122G>C (p.Gly374=) n.1154G>C c.529G>C (p.Gly177Arg) c.1018G>C (p.Gly340Arg) c.615G>C (p.Gly205=) c.364G>C (p.Gly122Arg) c.319+2123G>C c.1248G>C (p.Gly416=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435689C>T | CA381701989 | DHCR7 | c.1114G>A (p.Gly372Ser) c.940G>A (p.Gly314Ser) c.1165G>A (p.Gly389Ser) c.1150G>A (p.Gly384Ser) c.1122G>A (p.Gly374=) n.1154G>A c.529G>A (p.Gly177Ser) c.1018G>A (p.Gly340Ser) c.615G>A (p.Gly205=) c.364G>A (p.Gly122Ser) c.319+2123G>A c.1248G>A (p.Gly416=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435690C>A | CA381701990 | DHCR7 | c.1113G>T (p.Trp371Cys) c.939G>T (p.Trp313Cys) c.1164G>T (p.Trp388Cys) c.1149G>T (p.Trp383Cys) c.1121G>T (p.Gly374Val) n.1153G>T c.528G>T (p.Trp176Cys) c.1017G>T (p.Trp339Cys) c.614G>T (p.Gly205Val) c.363G>T (p.Trp121Cys) c.319+2122G>T c.1247G>T (p.Gly416Val) | |
11 | g.71435690C= | CA1981486958 | DHCR7 | c.1113G= (p.Trp371=) c.939G= (p.Trp313=) c.1164G= (p.Trp388=) c.1149G= (p.Trp383=) c.1121G= (p.Gly374=) n.1153G= c.528G= (p.Trp176=) c.1017G= (p.Trp339=) c.614G= (p.Gly205=) c.363G= (p.Trp121=) c.319+2122G= c.1247G= (p.Gly416=) | |
11 | g.71435690C>G | CA381701991 | DHCR7 | c.1113G>C (p.Trp371Cys) c.939G>C (p.Trp313Cys) c.1164G>C (p.Trp388Cys) c.1149G>C (p.Trp383Cys) c.1121G>C (p.Gly374Ala) n.1153G>C c.528G>C (p.Trp176Cys) c.1017G>C (p.Trp339Cys) c.614G>C (p.Gly205Ala) c.363G>C (p.Trp121Cys) c.319+2122G>C c.1247G>C (p.Gly416Ala) | |
11 | g.71435690C>T | CA381701992 | DHCR7 | c.1113G>A (p.Trp371Ter) c.939G>A (p.Trp313Ter) c.1164G>A (p.Trp388Ter) c.1149G>A (p.Trp383Ter) c.1121G>A (p.Gly374Glu) n.1153G>A c.528G>A (p.Trp176Ter) c.1017G>A (p.Trp339Ter) c.614G>A (p.Gly205Glu) c.363G>A (p.Trp121Ter) c.319+2122G>A c.1247G>A (p.Gly416Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435691C>A | CA381701999 | DHCR7 | c.1112G>T (p.Trp371Leu) c.938G>T (p.Trp313Leu) c.1163G>T (p.Trp388Leu) c.1148G>T (p.Trp383Leu) c.1120G>T (p.Gly374Trp) n.1152G>T c.527G>T (p.Trp176Leu) c.1016G>T (p.Trp339Leu) c.613G>T (p.Gly205Trp) c.362G>T (p.Trp121Leu) c.319+2121G>T c.1246G>T (p.Gly416Trp) | |
11 | g.71435691C= | CA1981486959 | DHCR7 | c.1112G= (p.Trp371=) c.938G= (p.Trp313=) c.1163G= (p.Trp388=) c.1148G= (p.Trp383=) c.1120G= (p.Gly374=) n.1152G= c.527G= (p.Trp176=) c.1016G= (p.Trp339=) c.613G= (p.Gly205=) c.362G= (p.Trp121=) c.319+2121G= c.1246G= (p.Gly416=) | |
11 | g.71435691C>G | CA381702001 | DHCR7 | c.1112G>C (p.Trp371Ser) c.938G>C (p.Trp313Ser) c.1163G>C (p.Trp388Ser) c.1148G>C (p.Trp383Ser) c.1120G>C (p.Gly374Arg) n.1152G>C c.527G>C (p.Trp176Ser) c.1016G>C (p.Trp339Ser) c.613G>C (p.Gly205Arg) c.362G>C (p.Trp121Ser) c.319+2121G>C c.1246G>C (p.Gly416Arg) | |
11 | g.71435691C>T | CA381702003 | DHCR7 | c.1112G>A (p.Trp371Ter) c.938G>A (p.Trp313Ter) c.1163G>A (p.Trp388Ter) c.1148G>A (p.Trp383Ter) c.1120G>A (p.Gly374Arg) n.1152G>A c.527G>A (p.Trp176Ter) c.1016G>A (p.Trp339Ter) c.613G>A (p.Gly205Arg) c.362G>A (p.Trp121Ter) c.319+2121G>A c.1246G>A (p.Gly416Arg) | ClinVar dbSNP |
11 | g.71435692A= | CA1981486960 | DHCR7 | c.1111T= (p.Trp371=) c.937T= (p.Trp313=) c.1162T= (p.Trp388=) c.1147T= (p.Trp383=) c.1119T= (p.Ser373=) n.1151T= c.526T= (p.Trp176=) c.1015T= (p.Trp339=) c.612T= (p.Ser204=) c.361T= (p.Trp121=) c.319+2120T= c.1245T= (p.Ser415=) | |
11 | g.71435692A>C | CA381702004 | DHCR7 | c.1111T>G (p.Trp371Gly) c.937T>G (p.Trp313Gly) c.1162T>G (p.Trp388Gly) c.1147T>G (p.Trp383Gly) c.1119T>G (p.Ser373=) n.1151T>G c.526T>G (p.Trp176Gly) c.1015T>G (p.Trp339Gly) c.612T>G (p.Ser204=) c.361T>G (p.Trp121Gly) c.319+2120T>G c.1245T>G (p.Ser415=) | |
11 | g.71435692A>G | CA381702006 | DHCR7 | c.1111T>C (p.Trp371Arg) c.937T>C (p.Trp313Arg) c.1162T>C (p.Trp388Arg) c.1147T>C (p.Trp383Arg) c.1119T>C (p.Ser373=) n.1151T>C c.526T>C (p.Trp176Arg) c.1015T>C (p.Trp339Arg) c.612T>C (p.Ser204=) c.361T>C (p.Trp121Arg) c.319+2120T>C c.1245T>C (p.Ser415=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435692A>T | CA381702005 | DHCR7 | c.1111T>A (p.Trp371Arg) c.937T>A (p.Trp313Arg) c.1162T>A (p.Trp388Arg) c.1147T>A (p.Trp383Arg) c.1119T>A (p.Ser373=) n.1151T>A c.526T>A (p.Trp176Arg) c.1015T>A (p.Trp339Arg) c.612T>A (p.Ser204=) c.361T>A (p.Trp121Arg) c.319+2120T>A c.1245T>A (p.Ser415=) | |
11 | g.71435693G>A | CA381702007 | DHCR7 | c.1110C>T (p.Ile370=) c.936C>T (p.Ile312=) c.1161C>T (p.Ile387=) c.1146C>T (p.Ile382=) c.1118C>T (p.Ser373Phe) n.1150C>T c.525C>T (p.Ile175=) c.1014C>T (p.Ile338=) c.611C>T (p.Ser204Phe) c.360C>T (p.Ile120=) c.319+2119C>T c.1244C>T (p.Ser415Phe) | ClinVar dbSNP |
11 | g.71435693G>C | CA381702009 | DHCR7 | c.1110C>G (p.Ile370Met) c.936C>G (p.Ile312Met) c.1161C>G (p.Ile387Met) c.1146C>G (p.Ile382Met) c.1118C>G (p.Ser373Cys) n.1150C>G c.525C>G (p.Ile175Met) c.1014C>G (p.Ile338Met) c.611C>G (p.Ser204Cys) c.360C>G (p.Ile120Met) c.319+2119C>G c.1244C>G (p.Ser415Cys) | gnomAD v4 |
11 | g.71435693G>T | CA381702008 | DHCR7 | c.1110C>A (p.Ile370=) c.936C>A (p.Ile312=) c.1161C>A (p.Ile387=) c.1146C>A (p.Ile382=) c.1118C>A (p.Ser373Tyr) n.1150C>A c.525C>A (p.Ile175=) c.1014C>A (p.Ile338=) c.611C>A (p.Ser204Tyr) c.360C>A (p.Ile120=) c.319+2119C>A c.1244C>A (p.Ser415Tyr) | |
11 | g.71435694A= | CA1981486961 | DHCR7 | c.1109T= (p.Ile370=) c.935T= (p.Ile312=) c.1160T= (p.Ile387=) c.1145T= (p.Ile382=) c.1117T= (p.Ser373=) n.1149T= c.524T= (p.Ile175=) c.1013T= (p.Ile338=) c.610T= (p.Ser204=) c.359T= (p.Ile120=) c.319+2118T= c.1243T= (p.Ser415=) | |
11 | g.71435694A>C | CA381702010 | DHCR7 | c.1109T>G (p.Ile370Ser) c.935T>G (p.Ile312Ser) c.1160T>G (p.Ile387Ser) c.1145T>G (p.Ile382Ser) c.1117T>G (p.Ser373Ala) n.1149T>G c.524T>G (p.Ile175Ser) c.1013T>G (p.Ile338Ser) c.610T>G (p.Ser204Ala) c.359T>G (p.Ile120Ser) c.319+2118T>G c.1243T>G (p.Ser415Ala) | |
11 | g.71435694A>G | CA381702011 | DHCR7 | c.1109T>C (p.Ile370Thr) c.935T>C (p.Ile312Thr) c.1160T>C (p.Ile387Thr) c.1145T>C (p.Ile382Thr) c.1117T>C (p.Ser373Pro) n.1149T>C c.524T>C (p.Ile175Thr) c.1013T>C (p.Ile338Thr) c.610T>C (p.Ser204Pro) c.359T>C (p.Ile120Thr) c.319+2118T>C c.1243T>C (p.Ser415Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435694A>T | CA381702012 | DHCR7 | c.1109T>A (p.Ile370Asn) c.935T>A (p.Ile312Asn) c.1160T>A (p.Ile387Asn) c.1145T>A (p.Ile382Asn) c.1117T>A (p.Ser373Thr) n.1149T>A c.524T>A (p.Ile175Asn) c.1013T>A (p.Ile338Asn) c.610T>A (p.Ser204Thr) c.359T>A (p.Ile120Asn) c.319+2118T>A c.1243T>A (p.Ser415Thr) | |
11 | g.71435695T>A | CA381702013 | DHCR7 | c.1108A>T (p.Ile370Phe) c.934A>T (p.Ile312Phe) c.1159A>T (p.Ile387Phe) c.1144A>T (p.Ile382Phe) c.1116A>T (p.Ser372=) n.1148A>T c.523A>T (p.Ile175Phe) c.1012A>T (p.Ile338Phe) c.609A>T (p.Ser203=) c.358A>T (p.Ile120Phe) c.319+2117A>T c.1242A>T (p.Ser414=) | dbSNP gnomAD v4 |
11 | g.71435695T>C | CA381702014 | DHCR7 | c.1108A>G (p.Ile370Val) c.934A>G (p.Ile312Val) c.1159A>G (p.Ile387Val) c.1144A>G (p.Ile382Val) c.1116A>G (p.Ser372=) n.1148A>G c.523A>G (p.Ile175Val) c.1012A>G (p.Ile338Val) c.609A>G (p.Ser203=) c.358A>G (p.Ile120Val) c.319+2117A>G c.1242A>G (p.Ser414=) | dbSNP COSMIC COSMIC |
11 | g.71435695T>G | CA381702015 | DHCR7 | c.1108A>C (p.Ile370Leu) c.934A>C (p.Ile312Leu) c.1159A>C (p.Ile387Leu) c.1144A>C (p.Ile382Leu) c.1116A>C (p.Ser372=) n.1148A>C c.523A>C (p.Ile175Leu) c.1012A>C (p.Ile338Leu) c.609A>C (p.Ser203=) c.358A>C (p.Ile120Leu) c.319+2117A>C c.1242A>C (p.Ser414=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435695T= | CA1981486962 | DHCR7 | c.1108A= (p.Ile370=) c.934A= (p.Ile312=) c.1159A= (p.Ile387=) c.1144A= (p.Ile382=) c.1116A= (p.Ser372=) n.1148A= c.523A= (p.Ile175=) c.1012A= (p.Ile338=) c.609A= (p.Ser203=) c.358A= (p.Ile120=) c.319+2117A= c.1242A= (p.Ser414=) | |
11 | g.71435696G>A | CA381702016 | DHCR7 | c.1107C>T (p.Leu369=) c.933C>T (p.Leu311=) c.1158C>T (p.Leu386=) c.1143C>T (p.Leu381=) c.1115C>T (p.Ser372Leu) n.1147C>T c.522C>T (p.Leu174=) c.1011C>T (p.Leu337=) c.608C>T (p.Ser203Leu) c.357C>T (p.Leu119=) c.319+2116C>T c.1241C>T (p.Ser414Leu) | ClinVar dbSNP COSMIC COSMIC |
11 | g.71435696G>C | CA381702017 | DHCR7 | c.1107C>G (p.Leu369=) c.933C>G (p.Leu311=) c.1158C>G (p.Leu386=) c.1143C>G (p.Leu381=) c.1115C>G (p.Ser372Ter) n.1147C>G c.522C>G (p.Leu174=) c.1011C>G (p.Leu337=) c.608C>G (p.Ser203Ter) c.357C>G (p.Leu119=) c.319+2116C>G c.1241C>G (p.Ser414Ter) | |
11 | g.71435696G= | CA1981486963 | DHCR7 | c.1107C= (p.Leu369=) c.933C= (p.Leu311=) c.1158C= (p.Leu386=) c.1143C= (p.Leu381=) c.1115C= (p.Ser372=) n.1147C= c.522C= (p.Leu174=) c.1011C= (p.Leu337=) c.608C= (p.Ser203=) c.357C= (p.Leu119=) c.319+2116C= c.1241C= (p.Ser414=) | |
11 | g.71435696G>T | CA381702018 | DHCR7 | c.1107C>A (p.Leu369=) c.933C>A (p.Leu311=) c.1158C>A (p.Leu386=) c.1143C>A (p.Leu381=) c.1115C>A (p.Ser372Ter) n.1147C>A c.522C>A (p.Leu174=) c.1011C>A (p.Leu337=) c.608C>A (p.Ser203Ter) c.357C>A (p.Leu119=) c.319+2116C>A c.1241C>A (p.Ser414Ter) | |
11 | g.71435697A>C | CA381702019 | DHCR7 | c.1106T>G (p.Leu369Arg) c.932T>G (p.Leu311Arg) c.1157T>G (p.Leu386Arg) c.1142T>G (p.Leu381Arg) c.1114T>G (p.Ser372Ala) n.1146T>G c.521T>G (p.Leu174Arg) c.1010T>G (p.Leu337Arg) c.607T>G (p.Ser203Ala) c.356T>G (p.Leu119Arg) c.319+2115T>G c.1240T>G (p.Ser414Ala) | |
11 | g.71435697A>G | CA381702020 | DHCR7 | c.1106T>C (p.Leu369Pro) c.932T>C (p.Leu311Pro) c.1157T>C (p.Leu386Pro) c.1142T>C (p.Leu381Pro) c.1114T>C (p.Ser372Pro) n.1146T>C c.521T>C (p.Leu174Pro) c.1010T>C (p.Leu337Pro) c.607T>C (p.Ser203Pro) c.356T>C (p.Leu119Pro) c.319+2115T>C c.1240T>C (p.Ser414Pro) | |
11 | g.71435697A>T | CA381702021 | DHCR7 | c.1106T>A (p.Leu369His) c.932T>A (p.Leu311His) c.1157T>A (p.Leu386His) c.1142T>A (p.Leu381His) c.1114T>A (p.Ser372Thr) n.1146T>A c.521T>A (p.Leu174His) c.1010T>A (p.Leu337His) c.607T>A (p.Ser203Thr) c.356T>A (p.Leu119His) c.319+2115T>A c.1240T>A (p.Ser414Thr) | |
11 | g.71435698G>A | CA381702024 | DHCR7 | c.1105C>T (p.Leu369Phe) c.931C>T (p.Leu311Phe) c.1156C>T (p.Leu386Phe) c.1141C>T (p.Leu381Phe) c.1113C>T (p.Ala371=) n.1145C>T c.520C>T (p.Leu174Phe) c.1009C>T (p.Leu337Phe) c.606C>T (p.Ala202=) c.355C>T (p.Leu119Phe) c.319+2114C>T c.1239C>T (p.Ala413=) | ClinVar dbSNP |
11 | g.71435698G>C | CA381702022 | DHCR7 | c.1105C>G (p.Leu369Val) c.931C>G (p.Leu311Val) c.1156C>G (p.Leu386Val) c.1141C>G (p.Leu381Val) c.1113C>G (p.Ala371=) n.1145C>G c.520C>G (p.Leu174Val) c.1009C>G (p.Leu337Val) c.606C>G (p.Ala202=) c.355C>G (p.Leu119Val) c.319+2114C>G c.1239C>G (p.Ala413=) | |
11 | g.71435698G= | CA1981486964 | DHCR7 | c.1105C= (p.Leu369=) c.931C= (p.Leu311=) c.1156C= (p.Leu386=) c.1141C= (p.Leu381=) c.1113C= (p.Ala371=) n.1145C= c.520C= (p.Leu174=) c.1009C= (p.Leu337=) c.606C= (p.Ala202=) c.355C= (p.Leu119=) c.319+2114C= c.1239C= (p.Ala413=) | |
11 | g.71435698G>T | CA381702023 | DHCR7 | c.1105C>A (p.Leu369Ile) c.931C>A (p.Leu311Ile) c.1156C>A (p.Leu386Ile) c.1141C>A (p.Leu381Ile) c.1113C>A (p.Ala371=) n.1145C>A c.520C>A (p.Leu174Ile) c.1009C>A (p.Leu337Ile) c.606C>A (p.Ala202=) c.355C>A (p.Leu119Ile) c.319+2114C>A c.1239C>A (p.Ala413=) | |
11 | g.71435699G>A | CA381702025 | DHCR7 | c.1104C>T (p.Cys368=) c.930C>T (p.Cys310=) c.1155C>T (p.Cys385=) c.1140C>T (p.Cys380=) c.1112C>T (p.Ala371Val) n.1144C>T c.519C>T (p.Cys173=) c.1008C>T (p.Cys336=) c.605C>T (p.Ala202Val) c.354C>T (p.Cys118=) c.319+2113C>T c.1238C>T (p.Ala413Val) | |
11 | g.71435699G>C | CA381702026 | DHCR7 | c.1104C>G (p.Cys368Trp) c.930C>G (p.Cys310Trp) c.1155C>G (p.Cys385Trp) c.1140C>G (p.Cys380Trp) c.1112C>G (p.Ala371Gly) n.1144C>G c.519C>G (p.Cys173Trp) c.1008C>G (p.Cys336Trp) c.605C>G (p.Ala202Gly) c.354C>G (p.Cys118Trp) c.319+2113C>G c.1238C>G (p.Ala413Gly) | |
11 | g.71435699G>T | CA381702027 | DHCR7 | c.1104C>A (p.Cys368Ter) c.930C>A (p.Cys310Ter) c.1155C>A (p.Cys385Ter) c.1140C>A (p.Cys380Ter) c.1112C>A (p.Ala371Asp) n.1144C>A c.519C>A (p.Cys173Ter) c.1008C>A (p.Cys336Ter) c.605C>A (p.Ala202Asp) c.354C>A (p.Cys118Ter) c.319+2113C>A c.1238C>A (p.Ala413Asp) | |
11 | g.71435700C>A | CA381702028 | DHCR7 | c.1103G>T (p.Cys368Phe) c.929G>T (p.Cys310Phe) c.1154G>T (p.Cys385Phe) c.1139G>T (p.Cys380Phe) c.1111G>T (p.Ala371Ser) n.1143G>T c.518G>T (p.Cys173Phe) c.1007G>T (p.Cys336Phe) c.604G>T (p.Ala202Ser) c.353G>T (p.Cys118Phe) c.319+2112G>T c.1237G>T (p.Ala413Ser) | |
11 | g.71435700C>G | CA381702029 | DHCR7 | c.1103G>C (p.Cys368Ser) c.929G>C (p.Cys310Ser) c.1154G>C (p.Cys385Ser) c.1139G>C (p.Cys380Ser) c.1111G>C (p.Ala371Pro) n.1143G>C c.518G>C (p.Cys173Ser) c.1007G>C (p.Cys336Ser) c.604G>C (p.Ala202Pro) c.353G>C (p.Cys118Ser) c.319+2112G>C c.1237G>C (p.Ala413Pro) | |
11 | g.71435700C>T | CA381702030 | DHCR7 | c.1103G>A (p.Cys368Tyr) c.929G>A (p.Cys310Tyr) c.1154G>A (p.Cys385Tyr) c.1139G>A (p.Cys380Tyr) c.1111G>A (p.Ala371Thr) n.1143G>A c.518G>A (p.Cys173Tyr) c.1007G>A (p.Cys336Tyr) c.604G>A (p.Ala202Thr) c.353G>A (p.Cys118Tyr) c.319+2112G>A c.1237G>A (p.Ala413Thr) | |
11 | g.71435701A= | CA1981486965 | DHCR7 | c.1102T= (p.Cys368=) c.928T= (p.Cys310=) c.1153T= (p.Cys385=) c.1138T= (p.Cys380=) c.1110T= (p.Ala370=) n.1142T= c.517T= (p.Cys173=) c.1006T= (p.Cys336=) c.603T= (p.Ala201=) c.352T= (p.Cys118=) c.319+2111T= c.1236T= (p.Ala412=) | |
11 | g.71435701A>C | CA381702031 | DHCR7 | c.1102T>G (p.Cys368Gly) c.928T>G (p.Cys310Gly) c.1153T>G (p.Cys385Gly) c.1138T>G (p.Cys380Gly) c.1110T>G (p.Ala370=) n.1142T>G c.517T>G (p.Cys173Gly) c.1006T>G (p.Cys336Gly) c.603T>G (p.Ala201=) c.352T>G (p.Cys118Gly) c.319+2111T>G c.1236T>G (p.Ala412=) | |
11 | g.71435701A>G | CA381702032 | DHCR7 | c.1102T>C (p.Cys368Arg) c.928T>C (p.Cys310Arg) c.1153T>C (p.Cys385Arg) c.1138T>C (p.Cys380Arg) c.1110T>C (p.Ala370=) n.1142T>C c.517T>C (p.Cys173Arg) c.1006T>C (p.Cys336Arg) c.603T>C (p.Ala201=) c.352T>C (p.Cys118Arg) c.319+2111T>C c.1236T>C (p.Ala412=) | dbSNP |
11 | g.71435701A>T | CA381702033 | DHCR7 | c.1102T>A (p.Cys368Ser) c.928T>A (p.Cys310Ser) c.1153T>A (p.Cys385Ser) c.1138T>A (p.Cys380Ser) c.1110T>A (p.Ala370=) n.1142T>A c.517T>A (p.Cys173Ser) c.1006T>A (p.Cys336Ser) c.603T>A (p.Ala201=) c.352T>A (p.Cys118Ser) c.319+2111T>A c.1236T>A (p.Ala412=) | |
11 | g.71435702G>A | CA381702034 | DHCR7 | c.1101C>T (p.Arg367=) c.927C>T (p.Arg309=) c.1152C>T (p.Arg384=) c.1137C>T (p.Arg379=) c.1109C>T (p.Ala370Val) n.1141C>T c.516C>T (p.Arg172=) c.1005C>T (p.Arg335=) c.602C>T (p.Ala201Val) c.351C>T (p.Arg117=) c.319+2110C>T c.1235C>T (p.Ala412Val) | dbSNP |
11 | g.71435702G>C | CA381702035 | DHCR7 | c.1101C>G (p.Arg367=) c.927C>G (p.Arg309=) c.1152C>G (p.Arg384=) c.1137C>G (p.Arg379=) c.1109C>G (p.Ala370Gly) n.1141C>G c.516C>G (p.Arg172=) c.1005C>G (p.Arg335=) c.602C>G (p.Ala201Gly) c.351C>G (p.Arg117=) c.319+2110C>G c.1235C>G (p.Ala412Gly) | |
11 | g.71435702G= | CA1981486966 | DHCR7 | c.1101C= (p.Arg367=) c.927C= (p.Arg309=) c.1152C= (p.Arg384=) c.1137C= (p.Arg379=) c.1109C= (p.Ala370=) n.1141C= c.516C= (p.Arg172=) c.1005C= (p.Arg335=) c.602C= (p.Ala201=) c.351C= (p.Arg117=) c.319+2110C= c.1235C= (p.Ala412=) | |
11 | g.71435702G>T | CA381702036 | DHCR7 | c.1101C>A (p.Arg367=) c.927C>A (p.Arg309=) c.1152C>A (p.Arg384=) c.1137C>A (p.Arg379=) c.1109C>A (p.Ala370Asp) n.1141C>A c.516C>A (p.Arg172=) c.1005C>A (p.Arg335=) c.602C>A (p.Ala201Asp) c.351C>A (p.Arg117=) c.319+2110C>A c.1235C>A (p.Ala412Asp) | |
11 | g.71435703C>A | CA381702038 | DHCR7 | c.1100G>T (p.Arg367Leu) c.926G>T (p.Arg309Leu) c.1151G>T (p.Arg384Leu) c.1136G>T (p.Arg379Leu) c.1108G>T (p.Ala370Ser) n.1140G>T c.515G>T (p.Arg172Leu) c.1004G>T (p.Arg335Leu) c.601G>T (p.Ala201Ser) c.350G>T (p.Arg117Leu) c.319+2109G>T c.1234G>T (p.Ala412Ser) | |
11 | g.71435703C= | CA1981486967 | DHCR7 | c.1100G= (p.Arg367=) c.926G= (p.Arg309=) c.1151G= (p.Arg384=) c.1136G= (p.Arg379=) c.1108G= (p.Ala370=) n.1140G= c.515G= (p.Arg172=) c.1004G= (p.Arg335=) c.601G= (p.Ala201=) c.350G= (p.Arg117=) c.319+2109G= c.1234G= (p.Ala412=) | |
11 | g.71435703C>G | CA381702037 | DHCR7 | c.1100G>C (p.Arg367Pro) c.926G>C (p.Arg309Pro) c.1151G>C (p.Arg384Pro) c.1136G>C (p.Arg379Pro) c.1108G>C (p.Ala370Pro) n.1140G>C c.515G>C (p.Arg172Pro) c.1004G>C (p.Arg335Pro) c.601G>C (p.Ala201Pro) c.350G>C (p.Arg117Pro) c.319+2109G>C c.1234G>C (p.Ala412Pro) | |
11 | g.71435703C>T | CA6162312 | DHCR7 | c.1100G>A (p.Arg367His) c.926G>A (p.Arg309His) c.1151G>A (p.Arg384His) c.1136G>A (p.Arg379His) c.1108G>A (p.Ala370Thr) n.1140G>A c.515G>A (p.Arg172His) c.1004G>A (p.Arg335His) c.601G>A (p.Ala201Thr) c.350G>A (p.Arg117His) c.319+2109G>A c.1234G>A (p.Ala412Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435704G>A | CA6162313 | DHCR7 | c.1099C>T (p.Arg367Cys) c.925C>T (p.Arg309Cys) c.1150C>T (p.Arg384Cys) c.1135C>T (p.Arg379Cys) c.1107C>T (p.Gly369=) n.1139C>T c.514C>T (p.Arg172Cys) c.1003C>T (p.Arg335Cys) c.600C>T (p.Gly200=) c.349C>T (p.Arg117Cys) c.319+2108C>T c.1233C>T (p.Gly411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435704G>C | CA381702039 | DHCR7 | c.1099C>G (p.Arg367Gly) c.925C>G (p.Arg309Gly) c.1150C>G (p.Arg384Gly) c.1135C>G (p.Arg379Gly) c.1107C>G (p.Gly369=) n.1139C>G c.514C>G (p.Arg172Gly) c.1003C>G (p.Arg335Gly) c.600C>G (p.Gly200=) c.349C>G (p.Arg117Gly) c.319+2108C>G c.1233C>G (p.Gly411=) | |
11 | g.71435704G= | CA1981486968 | DHCR7 | c.1099C= (p.Arg367=) c.925C= (p.Arg309=) c.1150C= (p.Arg384=) c.1135C= (p.Arg379=) c.1107C= (p.Gly369=) n.1139C= c.514C= (p.Arg172=) c.1003C= (p.Arg335=) c.600C= (p.Gly200=) c.349C= (p.Arg117=) c.319+2108C= c.1233C= (p.Gly411=) | |
11 | g.71435704G>T | CA381702040 | DHCR7 | c.1099C>A (p.Arg367Ser) c.925C>A (p.Arg309Ser) c.1150C>A (p.Arg384Ser) c.1135C>A (p.Arg379Ser) c.1107C>A (p.Gly369=) n.1139C>A c.514C>A (p.Arg172Ser) c.1003C>A (p.Arg335Ser) c.600C>A (p.Gly200=) c.349C>A (p.Arg117Ser) c.319+2108C>A c.1233C>A (p.Gly411=) | |
11 | g.71435705C>A | CA381702041 | DHCR7 | c.1098G>T (p.Gly366=) c.924G>T (p.Gly308=) c.1149G>T (p.Gly383=) c.1134G>T (p.Gly378=) c.1106G>T (p.Gly369Val) n.1138G>T c.513G>T (p.Gly171=) c.1002G>T (p.Gly334=) c.599G>T (p.Gly200Val) c.348G>T (p.Gly116=) c.319+2107G>T c.1232G>T (p.Gly411Val) | |
11 | g.71435705C>G | CA381702042 | DHCR7 | c.1098G>C (p.Gly366=) c.924G>C (p.Gly308=) c.1149G>C (p.Gly383=) c.1134G>C (p.Gly378=) c.1106G>C (p.Gly369Ala) n.1138G>C c.513G>C (p.Gly171=) c.1002G>C (p.Gly334=) c.599G>C (p.Gly200Ala) c.348G>C (p.Gly116=) c.319+2107G>C c.1232G>C (p.Gly411Ala) | |
11 | g.71435705C>T | CA381702043 | DHCR7 | c.1098G>A (p.Gly366=) c.924G>A (p.Gly308=) c.1149G>A (p.Gly383=) c.1134G>A (p.Gly378=) c.1106G>A (p.Gly369Asp) n.1138G>A c.513G>A (p.Gly171=) c.1002G>A (p.Gly334=) c.599G>A (p.Gly200Asp) c.348G>A (p.Gly116=) c.319+2107G>A c.1232G>A (p.Gly411Asp) | ClinVar dbSNP |
11 | g.71435706C>A | CA381702049 | DHCR7 | c.1097G>T (p.Gly366Val) c.923G>T (p.Gly308Val) c.1148G>T (p.Gly383Val) c.1133G>T (p.Gly378Val) c.1105G>T (p.Gly369Cys) n.1137G>T c.512G>T (p.Gly171Val) c.1001G>T (p.Gly334Val) c.598G>T (p.Gly200Cys) c.347G>T (p.Gly116Val) c.319+2106G>T c.1231G>T (p.Gly411Cys) | ClinVar dbSNP |
11 | g.71435706C= | CA1981486969 | DHCR7 | c.1097G= (p.Gly366=) c.923G= (p.Gly308=) c.1148G= (p.Gly383=) c.1133G= (p.Gly378=) c.1105G= (p.Gly369=) n.1137G= c.512G= (p.Gly171=) c.1001G= (p.Gly334=) c.598G= (p.Gly200=) c.347G= (p.Gly116=) c.319+2106G= c.1231G= (p.Gly411=) | |
11 | g.71435706C>G | CA381702047 | DHCR7 | c.1097G>C (p.Gly366Ala) c.923G>C (p.Gly308Ala) c.1148G>C (p.Gly383Ala) c.1133G>C (p.Gly378Ala) c.1105G>C (p.Gly369Arg) n.1137G>C c.512G>C (p.Gly171Ala) c.1001G>C (p.Gly334Ala) c.598G>C (p.Gly200Arg) c.347G>C (p.Gly116Ala) c.319+2106G>C c.1231G>C (p.Gly411Arg) | |
11 | g.71435706C>T | CA381702045 | DHCR7 | c.1097G>A (p.Gly366Glu) c.923G>A (p.Gly308Glu) c.1148G>A (p.Gly383Glu) c.1133G>A (p.Gly378Glu) c.1105G>A (p.Gly369Ser) n.1137G>A c.512G>A (p.Gly171Glu) c.1001G>A (p.Gly334Glu) c.598G>A (p.Gly200Ser) c.347G>A (p.Gly116Glu) c.319+2106G>A c.1231G>A (p.Gly411Ser) | |
11 | g.71435707C>A | CA381702050 | DHCR7 | c.1096G>T (p.Gly366Trp) c.922G>T (p.Gly308Trp) c.1147G>T (p.Gly383Trp) c.1132G>T (p.Gly378Trp) c.1104G>T (p.Met368Ile) n.1136G>T c.511G>T (p.Gly171Trp) c.1000G>T (p.Gly334Trp) c.597G>T (p.Met199Ile) c.346G>T (p.Gly116Trp) c.319+2105G>T c.1230G>T (p.Met410Ile) | |
11 | g.71435707C= | CA1981486970 | DHCR7 | c.1096G= (p.Gly366=) c.922G= (p.Gly308=) c.1147G= (p.Gly383=) c.1132G= (p.Gly378=) c.1104G= (p.Met368=) n.1136G= c.511G= (p.Gly171=) c.1000G= (p.Gly334=) c.597G= (p.Met199=) c.346G= (p.Gly116=) c.319+2105G= c.1230G= (p.Met410=) | |
11 | g.71435707C>G | CA381702051 | DHCR7 | c.1096G>C (p.Gly366Arg) c.922G>C (p.Gly308Arg) c.1147G>C (p.Gly383Arg) c.1132G>C (p.Gly378Arg) c.1104G>C (p.Met368Ile) n.1136G>C c.511G>C (p.Gly171Arg) c.1000G>C (p.Gly334Arg) c.597G>C (p.Met199Ile) c.346G>C (p.Gly116Arg) c.319+2105G>C c.1230G>C (p.Met410Ile) | gnomAD v4 |
11 | g.71435707C>T | CA224324413 | DHCR7 | c.1096G>A (p.Gly366Arg) c.922G>A (p.Gly308Arg) c.1147G>A (p.Gly383Arg) c.1132G>A (p.Gly378Arg) c.1104G>A (p.Met368Ile) n.1136G>A c.511G>A (p.Gly171Arg) c.1000G>A (p.Gly334Arg) c.597G>A (p.Met199Ile) c.346G>A (p.Gly116Arg) c.319+2105G>A c.1230G>A (p.Met410Ile) | dbSNP |
11 | g.71435708A>C | CA381702053 | DHCR7 | c.1095T>G (p.Asp365Glu) c.921T>G (p.Asp307Glu) c.1146T>G (p.Asp382Glu) c.1131T>G (p.Asp377Glu) c.1103T>G (p.Met368Arg) n.1135T>G c.510T>G (p.Asp170Glu) c.999T>G (p.Asp333Glu) c.596T>G (p.Met199Arg) c.345T>G (p.Asp115Glu) c.319+2104T>G c.1229T>G (p.Met410Arg) | |
11 | g.71435708A>G | CA381702054 | DHCR7 | c.1095T>C (p.Asp365=) c.921T>C (p.Asp307=) c.1146T>C (p.Asp382=) c.1131T>C (p.Asp377=) c.1103T>C (p.Met368Thr) n.1135T>C c.510T>C (p.Asp170=) c.999T>C (p.Asp333=) c.596T>C (p.Met199Thr) c.345T>C (p.Asp115=) c.319+2104T>C c.1229T>C (p.Met410Thr) | |
11 | g.71435708A>T | CA381702055 | DHCR7 | c.1095T>A (p.Asp365Glu) c.921T>A (p.Asp307Glu) c.1146T>A (p.Asp382Glu) c.1131T>A (p.Asp377Glu) c.1103T>A (p.Met368Lys) n.1135T>A c.510T>A (p.Asp170Glu) c.999T>A (p.Asp333Glu) c.596T>A (p.Met199Lys) c.345T>A (p.Asp115Glu) c.319+2104T>A c.1229T>A (p.Met410Lys) | |
11 | g.71435709T>A | CA381702057 | DHCR7 | c.1094A>T (p.Asp365Val) c.920A>T (p.Asp307Val) c.1145A>T (p.Asp382Val) c.1130A>T (p.Asp377Val) c.1102A>T (p.Met368Leu) n.1134A>T c.509A>T (p.Asp170Val) c.998A>T (p.Asp333Val) c.595A>T (p.Met199Leu) c.344A>T (p.Asp115Val) c.319+2103A>T c.1228A>T (p.Met410Leu) | |
11 | g.71435709T>C | CA224324426 | DHCR7 | c.1094A>G (p.Asp365Gly) c.920A>G (p.Asp307Gly) c.1145A>G (p.Asp382Gly) c.1130A>G (p.Asp377Gly) c.1102A>G (p.Met368Val) n.1134A>G c.509A>G (p.Asp170Gly) c.998A>G (p.Asp333Gly) c.595A>G (p.Met199Val) c.344A>G (p.Asp115Gly) c.319+2103A>G c.1228A>G (p.Met410Val) | dbSNP gnomAD v4 |
11 | g.71435709T>G | CA381702058 | DHCR7 | c.1094A>C (p.Asp365Ala) c.920A>C (p.Asp307Ala) c.1145A>C (p.Asp382Ala) c.1130A>C (p.Asp377Ala) c.1102A>C (p.Met368Leu) n.1134A>C c.509A>C (p.Asp170Ala) c.998A>C (p.Asp333Ala) c.595A>C (p.Met199Leu) c.344A>C (p.Asp115Ala) c.319+2103A>C c.1228A>C (p.Met410Leu) | |
11 | g.71435709T= | CA1981486971 | DHCR7 | c.1094A= (p.Asp365=) c.920A= (p.Asp307=) c.1145A= (p.Asp382=) c.1130A= (p.Asp377=) c.1102A= (p.Met368=) n.1134A= c.509A= (p.Asp170=) c.998A= (p.Asp333=) c.595A= (p.Met199=) c.344A= (p.Asp115=) c.319+2103A= c.1228A= (p.Met410=) | |
11 | g.71435710C>A | CA381702061 | DHCR7 | c.1093G>T (p.Asp365Tyr) c.919G>T (p.Asp307Tyr) c.1144G>T (p.Asp382Tyr) c.1129G>T (p.Asp377Tyr) c.1101G>T (p.Arg367=) n.1133G>T c.508G>T (p.Asp170Tyr) c.997G>T (p.Asp333Tyr) c.594G>T (p.Arg198=) c.343G>T (p.Asp115Tyr) c.319+2102G>T c.1227G>T (p.Arg409=) | |
11 | g.71435710C>G | CA381702063 | DHCR7 | c.1093G>C (p.Asp365His) c.919G>C (p.Asp307His) c.1144G>C (p.Asp382His) c.1129G>C (p.Asp377His) c.1101G>C (p.Arg367=) n.1133G>C c.508G>C (p.Asp170His) c.997G>C (p.Asp333His) c.594G>C (p.Arg198=) c.343G>C (p.Asp115His) c.319+2102G>C c.1227G>C (p.Arg409=) | |
11 | g.71435710C>T | CA381702064 | DHCR7 | c.1093G>A (p.Asp365Asn) c.919G>A (p.Asp307Asn) c.1144G>A (p.Asp382Asn) c.1129G>A (p.Asp377Asn) c.1101G>A (p.Arg367=) n.1133G>A c.508G>A (p.Asp170Asn) c.997G>A (p.Asp333Asn) c.594G>A (p.Arg198=) c.343G>A (p.Asp115Asn) c.319+2102G>A c.1227G>A (p.Arg409=) | |
11 | g.71435711C>A | CA381702065 | DHCR7 | c.1092G>T (p.Thr364=) c.918G>T (p.Thr306=) c.1143G>T (p.Thr381=) c.1128G>T (p.Thr376=) c.1100G>T (p.Arg367Leu) n.1132G>T c.507G>T (p.Thr169=) c.996G>T (p.Thr332=) c.593G>T (p.Arg198Leu) c.342G>T (p.Thr114=) c.319+2101G>T c.1226G>T (p.Arg409Leu) | |
11 | g.71435711C= | CA1981486972 | DHCR7 | c.1092G= (p.Thr364=) c.918G= (p.Thr306=) c.1143G= (p.Thr381=) c.1128G= (p.Thr376=) c.1100G= (p.Arg367=) n.1132G= c.507G= (p.Thr169=) c.996G= (p.Thr332=) c.593G= (p.Arg198=) c.342G= (p.Thr114=) c.319+2101G= c.1226G= (p.Arg409=) | |
11 | g.71435711C>G | CA381702068 | DHCR7 | c.1092G>C (p.Thr364=) c.918G>C (p.Thr306=) c.1143G>C (p.Thr381=) c.1128G>C (p.Thr376=) c.1100G>C (p.Arg367Pro) n.1132G>C c.507G>C (p.Thr169=) c.996G>C (p.Thr332=) c.593G>C (p.Arg198Pro) c.342G>C (p.Thr114=) c.319+2101G>C c.1226G>C (p.Arg409Pro) | |
11 | g.71435711C>T | CA179963 | DHCR7 | c.1092G>A (p.Thr364=) c.918G>A (p.Thr306=) c.1143G>A (p.Thr381=) c.1128G>A (p.Thr376=) c.1100G>A (p.Arg367Gln) n.1132G>A c.507G>A (p.Thr169=) c.996G>A (p.Thr332=) c.593G>A (p.Arg198Gln) c.342G>A (p.Thr114=) c.319+2101G>A c.1226G>A (p.Arg409Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435712G>A | CA6162314 | DHCR7 | c.1091C>T (p.Thr364Met) c.917C>T (p.Thr306Met) c.1142C>T (p.Thr381Met) c.1127C>T (p.Thr376Met) c.1099C>T (p.Arg367Trp) n.1131C>T c.506C>T (p.Thr169Met) c.995C>T (p.Thr332Met) c.592C>T (p.Arg198Trp) c.341C>T (p.Thr114Met) c.319+2100C>T c.1225C>T (p.Arg409Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435712G>C | CA381702071 | DHCR7 | c.1091C>G (p.Thr364Arg) c.917C>G (p.Thr306Arg) c.1142C>G (p.Thr381Arg) c.1127C>G (p.Thr376Arg) c.1099C>G (p.Arg367Gly) n.1131C>G c.506C>G (p.Thr169Arg) c.995C>G (p.Thr332Arg) c.592C>G (p.Arg198Gly) c.341C>G (p.Thr114Arg) c.319+2100C>G c.1225C>G (p.Arg409Gly) | |
11 | g.71435712G= | CA1981486973 | DHCR7 | c.1091C= (p.Thr364=) c.917C= (p.Thr306=) c.1142C= (p.Thr381=) c.1127C= (p.Thr376=) c.1099C= (p.Arg367=) n.1131C= c.506C= (p.Thr169=) c.995C= (p.Thr332=) c.592C= (p.Arg198=) c.341C= (p.Thr114=) c.319+2100C= c.1225C= (p.Arg409=) | |
11 | g.71435712G>T | CA381702073 | DHCR7 | c.1091C>A (p.Thr364Lys) c.917C>A (p.Thr306Lys) c.1142C>A (p.Thr381Lys) c.1127C>A (p.Thr376Lys) c.1099C>A (p.Arg367=) n.1131C>A c.506C>A (p.Thr169Lys) c.995C>A (p.Thr332Lys) c.592C>A (p.Arg198=) c.341C>A (p.Thr114Lys) c.319+2100C>A c.1225C>A (p.Arg409=) | |
11 | g.71435713T>A | CA381702075 | DHCR7 | c.1090A>T (p.Thr364Ser) c.916A>T (p.Thr306Ser) c.1141A>T (p.Thr381Ser) c.1126A>T (p.Thr376Ser) c.1098A>T (p.Ala366=) n.1130A>T c.505A>T (p.Thr169Ser) c.994A>T (p.Thr332Ser) c.591A>T (p.Ala197=) c.340A>T (p.Thr114Ser) c.319+2099A>T c.1224A>T (p.Ala408=) | |
11 | g.71435713T>C | CA381702076 | DHCR7 | c.1090A>G (p.Thr364Ala) c.916A>G (p.Thr306Ala) c.1141A>G (p.Thr381Ala) c.1126A>G (p.Thr376Ala) c.1098A>G (p.Ala366=) n.1130A>G c.505A>G (p.Thr169Ala) c.994A>G (p.Thr332Ala) c.591A>G (p.Ala197=) c.340A>G (p.Thr114Ala) c.319+2099A>G c.1224A>G (p.Ala408=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71435713T>G | CA381702079 | DHCR7 | c.1090A>C (p.Thr364Pro) c.916A>C (p.Thr306Pro) c.1141A>C (p.Thr381Pro) c.1126A>C (p.Thr376Pro) c.1098A>C (p.Ala366=) n.1130A>C c.505A>C (p.Thr169Pro) c.994A>C (p.Thr332Pro) c.591A>C (p.Ala197=) c.340A>C (p.Thr114Pro) c.319+2099A>C c.1224A>C (p.Ala408=) | |
11 | g.71435713T= | CA1981486974 | DHCR7 | c.1090A= (p.Thr364=) c.916A= (p.Thr306=) c.1141A= (p.Thr381=) c.1126A= (p.Thr376=) c.1098A= (p.Ala366=) n.1130A= c.505A= (p.Thr169=) c.994A= (p.Thr332=) c.591A= (p.Ala197=) c.340A= (p.Thr114=) c.319+2099A= c.1224A= (p.Ala408=) | |
11 | g.71435714G>A | CA381702081 | DHCR7 | c.1089C>T (p.Arg363=) c.915C>T (p.Arg305=) c.1140C>T (p.Arg380=) c.1125C>T (p.Arg375=) c.1097C>T (p.Ala366Val) n.1129C>T c.504C>T (p.Arg168=) c.993C>T (p.Arg331=) c.590C>T (p.Ala197Val) c.339C>T (p.Arg113=) c.319+2098C>T c.1223C>T (p.Ala408Val) | ClinVar gnomAD v4 COSMIC COSMIC |
11 | g.71435714G>C | CA381702082 | DHCR7 | c.1089C>G (p.Arg363=) c.915C>G (p.Arg305=) c.1140C>G (p.Arg380=) c.1125C>G (p.Arg375=) c.1097C>G (p.Ala366Gly) n.1129C>G c.504C>G (p.Arg168=) c.993C>G (p.Arg331=) c.590C>G (p.Ala197Gly) c.339C>G (p.Arg113=) c.319+2098C>G c.1223C>G (p.Ala408Gly) | |
11 | g.71435714G>T | CA381702080 | DHCR7 | c.1089C>A (p.Arg363=) c.915C>A (p.Arg305=) c.1140C>A (p.Arg380=) c.1125C>A (p.Arg375=) c.1097C>A (p.Ala366Glu) n.1129C>A c.504C>A (p.Arg168=) c.993C>A (p.Arg331=) c.590C>A (p.Ala197Glu) c.339C>A (p.Arg113=) c.319+2098C>A c.1223C>A (p.Ala408Glu) | |
11 | g.71435715C>A | CA224324448 | DHCR7 | c.1088G>T (p.Arg363Leu) c.914G>T (p.Arg305Leu) c.1139G>T (p.Arg380Leu) c.1124G>T (p.Arg375Leu) c.1096G>T (p.Ala366Ser) n.1128G>T c.503G>T (p.Arg168Leu) c.992G>T (p.Arg331Leu) c.589G>T (p.Ala197Ser) c.338G>T (p.Arg113Leu) c.319+2097G>T c.1222G>T (p.Ala408Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.71435715C= | CA1981486975 | DHCR7 | c.1088G= (p.Arg363=) c.914G= (p.Arg305=) c.1139G= (p.Arg380=) c.1124G= (p.Arg375=) c.1096G= (p.Ala366=) n.1128G= c.503G= (p.Arg168=) c.992G= (p.Arg331=) c.589G= (p.Ala197=) c.338G= (p.Arg113=) c.319+2097G= c.1222G= (p.Ala408=) | |
11 | g.71435715C>G | CA381702088 | DHCR7 | c.1088G>C (p.Arg363Pro) c.914G>C (p.Arg305Pro) c.1139G>C (p.Arg380Pro) c.1124G>C (p.Arg375Pro) c.1096G>C (p.Ala366Pro) n.1128G>C c.503G>C (p.Arg168Pro) c.992G>C (p.Arg331Pro) c.589G>C (p.Ala197Pro) c.338G>C (p.Arg113Pro) c.319+2097G>C c.1222G>C (p.Ala408Pro) | |
11 | g.71435715C>T | CA6162315 | DHCR7 | c.1088G>A (p.Arg363His) c.914G>A (p.Arg305His) c.1139G>A (p.Arg380His) c.1124G>A (p.Arg375His) c.1096G>A (p.Ala366Thr) n.1128G>A c.503G>A (p.Arg168His) c.992G>A (p.Arg331His) c.589G>A (p.Ala197Thr) c.338G>A (p.Arg113His) c.319+2097G>A c.1222G>A (p.Ala408Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435716G>A | CA6162316 | DHCR7 | c.1087C>T (p.Arg363Cys) c.913C>T (p.Arg305Cys) c.1138C>T (p.Arg380Cys) c.1123C>T (p.Arg375Cys) c.1095C>T (p.Ala365=) n.1127C>T c.502C>T (p.Arg168Cys) c.991C>T (p.Arg331Cys) c.588C>T (p.Ala196=) c.337C>T (p.Arg113Cys) c.319+2096C>T c.1221C>T (p.Ala407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435716G>C | CA381702090 | DHCR7 | c.1087C>G (p.Arg363Gly) c.913C>G (p.Arg305Gly) c.1138C>G (p.Arg380Gly) c.1123C>G (p.Arg375Gly) c.1095C>G (p.Ala365=) n.1127C>G c.502C>G (p.Arg168Gly) c.991C>G (p.Arg331Gly) c.588C>G (p.Ala196=) c.337C>G (p.Arg113Gly) c.319+2096C>G c.1221C>G (p.Ala407=) | |
11 | g.71435716G= | CA1981486976 | DHCR7 | c.1087C= (p.Arg363=) c.913C= (p.Arg305=) c.1138C= (p.Arg380=) c.1123C= (p.Arg375=) c.1095C= (p.Ala365=) n.1127C= c.502C= (p.Arg168=) c.991C= (p.Arg331=) c.588C= (p.Ala196=) c.337C= (p.Arg113=) c.319+2096C= c.1221C= (p.Ala407=) | |
11 | g.71435716G>T | CA381702092 | DHCR7 | c.1087C>A (p.Arg363Ser) c.913C>A (p.Arg305Ser) c.1138C>A (p.Arg380Ser) c.1123C>A (p.Arg375Ser) c.1095C>A (p.Ala365=) n.1127C>A c.502C>A (p.Arg168Ser) c.991C>A (p.Arg331Ser) c.588C>A (p.Ala196=) c.337C>A (p.Arg113Ser) c.319+2096C>A c.1221C>A (p.Ala407=) | |
11 | g.71435717G>A | CA381702093 | DHCR7 | c.1086C>T (p.Arg362=) c.912C>T (p.Arg304=) c.1137C>T (p.Arg379=) c.1122C>T (p.Arg374=) c.1094C>T (p.Ala365Val) n.1126C>T c.501C>T (p.Arg167=) c.990C>T (p.Arg330=) c.587C>T (p.Ala196Val) c.336C>T (p.Arg112=) c.319+2095C>T c.1220C>T (p.Ala407Val) | ClinVar dbSNP gnomAD v4 |
11 | g.71435717G>C | CA381702095 | DHCR7 | c.1086C>G (p.Arg362=) c.912C>G (p.Arg304=) c.1137C>G (p.Arg379=) c.1122C>G (p.Arg374=) c.1094C>G (p.Ala365Gly) n.1126C>G c.501C>G (p.Arg167=) c.990C>G (p.Arg330=) c.587C>G (p.Ala196Gly) c.336C>G (p.Arg112=) c.319+2095C>G c.1220C>G (p.Ala407Gly) | |
11 | g.71435717G= | CA1981486977 | DHCR7 | c.1086C= (p.Arg362=) c.912C= (p.Arg304=) c.1137C= (p.Arg379=) c.1122C= (p.Arg374=) c.1094C= (p.Ala365=) n.1126C= c.501C= (p.Arg167=) c.990C= (p.Arg330=) c.587C= (p.Ala196=) c.336C= (p.Arg112=) c.319+2095C= c.1220C= (p.Ala407=) | |
11 | g.71435717G>T | CA381702098 | DHCR7 | c.1086C>A (p.Arg362=) c.912C>A (p.Arg304=) c.1137C>A (p.Arg379=) c.1122C>A (p.Arg374=) c.1094C>A (p.Ala365Asp) n.1126C>A c.501C>A (p.Arg167=) c.990C>A (p.Arg330=) c.587C>A (p.Ala196Asp) c.336C>A (p.Arg112=) c.319+2095C>A c.1220C>A (p.Ala407Asp) | gnomAD v4 |
11 | g.71435718C>A | CA6162318 | DHCR7 | c.1085G>T (p.Arg362Leu) c.911G>T (p.Arg304Leu) c.1136G>T (p.Arg379Leu) c.1121G>T (p.Arg374Leu) c.1093G>T (p.Ala365Ser) n.1125G>T c.500G>T (p.Arg167Leu) c.989G>T (p.Arg330Leu) c.586G>T (p.Ala196Ser) c.335G>T (p.Arg112Leu) c.319+2094G>T c.1219G>T (p.Ala407Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435718C= | CA1981486978 | DHCR7 | c.1085G= (p.Arg362=) c.911G= (p.Arg304=) c.1136G= (p.Arg379=) c.1121G= (p.Arg374=) c.1093G= (p.Ala365=) n.1125G= c.500G= (p.Arg167=) c.989G= (p.Arg330=) c.586G= (p.Ala196=) c.335G= (p.Arg112=) c.319+2094G= c.1219G= (p.Ala407=) | |
11 | g.71435718C>G | CA381702101 | DHCR7 | c.1085G>C (p.Arg362Pro) c.911G>C (p.Arg304Pro) c.1136G>C (p.Arg379Pro) c.1121G>C (p.Arg374Pro) c.1093G>C (p.Ala365Pro) n.1125G>C c.500G>C (p.Arg167Pro) c.989G>C (p.Arg330Pro) c.586G>C (p.Ala196Pro) c.335G>C (p.Arg112Pro) c.319+2094G>C c.1219G>C (p.Ala407Pro) | |
11 | g.71435718C>T | CA6162317 | DHCR7 | c.1085G>A (p.Arg362His) c.911G>A (p.Arg304His) c.1136G>A (p.Arg379His) c.1121G>A (p.Arg374His) c.1093G>A (p.Ala365Thr) n.1125G>A c.500G>A (p.Arg167His) c.989G>A (p.Arg330His) c.586G>A (p.Ala196Thr) c.335G>A (p.Arg112His) c.319+2094G>A c.1219G>A (p.Ala407Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71435719G>A | CA6162319 | DHCR7 | c.1084C>T (p.Arg362Cys) c.910C>T (p.Arg304Cys) c.1135C>T (p.Arg379Cys) c.1120C>T (p.Arg374Cys) c.1092C>T (p.Ser364=) n.1124C>T c.499C>T (p.Arg167Cys) c.988C>T (p.Arg330Cys) c.585C>T (p.Ser195=) c.334C>T (p.Arg112Cys) c.319+2093C>T c.1218C>T (p.Ser406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71435719G>C | CA381702106 | DHCR7 | c.1084C>G (p.Arg362Gly) c.910C>G (p.Arg304Gly) c.1135C>G (p.Arg379Gly) c.1120C>G (p.Arg374Gly) c.1092C>G (p.Ser364=) n.1124C>G c.499C>G (p.Arg167Gly) c.988C>G (p.Arg330Gly) c.585C>G (p.Ser195=) c.334C>G (p.Arg112Gly) c.319+2093C>G c.1218C>G (p.Ser406=) | ClinVar dbSNP |
11 | g.71435719G= | CA1981486979 | DHCR7 | c.1084C= (p.Arg362=) c.910C= (p.Arg304=) c.1135C= (p.Arg379=) c.1120C= (p.Arg374=) c.1092C= (p.Ser364=) n.1124C= c.499C= (p.Arg167=) c.988C= (p.Arg330=) c.585C= (p.Ser195=) c.334C= (p.Arg112=) c.319+2093C= c.1218C= (p.Ser406=) | |
11 | g.71435719G>T | CA381702107 | DHCR7 | c.1084C>A (p.Arg362Ser) c.910C>A (p.Arg304Ser) c.1135C>A (p.Arg379Ser) c.1120C>A (p.Arg374Ser) c.1092C>A (p.Ser364=) n.1124C>A c.499C>A (p.Arg167Ser) c.988C>A (p.Arg330Ser) c.585C>A (p.Ser195=) c.334C>A (p.Arg112Ser) c.319+2093C>A c.1218C>A (p.Ser406=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435720del | CA2614857221 | DHCR7 | c.1084del (p.Arg362AlafsTer?) c.910del (p.Arg304AlafsTer?) c.1135del (p.Arg379AlafsTer?) c.1120del (p.Arg374AlafsTer?) c.1092del (p.Ala365ProfsTer?) n.1124del c.499del (p.Arg167AlafsTer?) c.988del (p.Arg330AlafsTer?) c.585del (p.Ala196ProfsTer?) c.334del (p.Arg112AlafsTer?) c.319+2093del c.1218del (p.Ala407ProfsTer?) | gnomAD v4 |
11 | g.71435720G>A | CA381702109 | DHCR7 | c.1083C>T (p.Phe361=) c.909C>T (p.Phe303=) c.1134C>T (p.Phe378=) c.1119C>T (p.Phe373=) c.1091C>T (p.Ser364Phe) n.1123C>T c.498C>T (p.Phe166=) c.987C>T (p.Phe329=) c.584C>T (p.Ser195Phe) c.333C>T (p.Phe111=) c.319+2092C>T c.1217C>T (p.Ser406Phe) | dbSNP |
11 | g.71435720G>C | CA381702110 | DHCR7 | c.1083C>G (p.Phe361Leu) c.909C>G (p.Phe303Leu) c.1134C>G (p.Phe378Leu) c.1119C>G (p.Phe373Leu) c.1091C>G (p.Ser364Cys) n.1123C>G c.498C>G (p.Phe166Leu) c.987C>G (p.Phe329Leu) c.584C>G (p.Ser195Cys) c.333C>G (p.Phe111Leu) c.319+2092C>G c.1217C>G (p.Ser406Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.71435720G= | CA1981486980 | DHCR7 | c.1083C= (p.Phe361=) c.909C= (p.Phe303=) c.1134C= (p.Phe378=) c.1119C= (p.Phe373=) c.1091C= (p.Ser364=) n.1123C= c.498C= (p.Phe166=) c.987C= (p.Phe329=) c.584C= (p.Ser195=) c.333C= (p.Phe111=) c.319+2092C= c.1217C= (p.Ser406=) | |
11 | g.71435720G>T | CA6162320 | DHCR7 | c.1083C>A (p.Phe361Leu) c.909C>A (p.Phe303Leu) c.1134C>A (p.Phe378Leu) c.1119C>A (p.Phe373Leu) c.1091C>A (p.Ser364Tyr) n.1123C>A c.498C>A (p.Phe166Leu) c.987C>A (p.Phe329Leu) c.584C>A (p.Ser195Tyr) c.333C>A (p.Phe111Leu) c.319+2092C>A c.1217C>A (p.Ser406Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71435721A= | CA1981486982 | DHCR7 | c.1082T= (p.Phe361=) c.908T= (p.Phe303=) c.1133T= (p.Phe378=) c.1118T= (p.Phe373=) c.1090T= (p.Ser364=) n.1122T= c.497T= (p.Phe166=) c.986T= (p.Phe329=) c.583T= (p.Ser195=) c.332T= (p.Phe111=) c.319+2091T= c.1216T= (p.Ser406=) | |
11 | g.71435721A>C | CA381702113 | DHCR7 | c.1082T>G (p.Phe361Cys) c.908T>G (p.Phe303Cys) c.1133T>G (p.Phe378Cys) c.1118T>G (p.Phe373Cys) c.1090T>G (p.Ser364Ala) n.1122T>G c.497T>G (p.Phe166Cys) c.986T>G (p.Phe329Cys) c.583T>G (p.Ser195Ala) c.332T>G (p.Phe111Cys) c.319+2091T>G c.1216T>G (p.Ser406Ala) | |
11 | g.71435721A>G | CA381702115 | DHCR7 | c.1082T>C (p.Phe361Ser) c.908T>C (p.Phe303Ser) c.1133T>C (p.Phe378Ser) c.1118T>C (p.Phe373Ser) c.1090T>C (p.Ser364Pro) n.1122T>C c.497T>C (p.Phe166Ser) c.986T>C (p.Phe329Ser) c.583T>C (p.Ser195Pro) c.332T>C (p.Phe111Ser) c.319+2091T>C c.1216T>C (p.Ser406Pro) | dbSNP |
11 | g.71435721A>T | CA381702116 | DHCR7 | c.1082T>A (p.Phe361Tyr) c.908T>A (p.Phe303Tyr) c.1133T>A (p.Phe378Tyr) c.1118T>A (p.Phe373Tyr) c.1090T>A (p.Ser364Thr) n.1122T>A c.497T>A (p.Phe166Tyr) c.986T>A (p.Phe329Tyr) c.583T>A (p.Ser195Thr) c.332T>A (p.Phe111Tyr) c.319+2091T>A c.1216T>A (p.Ser406Thr) | |
11 | g.71435721_71435723delinsAAC | CA1981486981 | DHCR7 | c.1080_1082delinsGTT (p.Leu360=) c.906_908delinsGTT (p.Leu302=) c.1131_1133delinsGTT (p.Leu377=) c.1116_1118delinsGTT (p.Leu372=) c.1088_1090delinsGTT (p.Cys363=) n.1120_1122delinsGTT c.495_497delinsGTT (p.Leu165=) c.984_986delinsGTT (p.Leu328=) c.581_583delinsGTT (p.Cys194=) c.330_332delinsGTT (p.Leu110=) c.319+2089_319+2091delinsGTT c.1214_1216delinsGTT (p.Cys405=) | |
11 | g.71435722A>C | CA381702118 | DHCR7 | c.1081T>G (p.Phe361Val) c.907T>G (p.Phe303Val) c.1132T>G (p.Phe378Val) c.1117T>G (p.Phe373Val) c.1089T>G (p.Cys363Trp) n.1121T>G c.496T>G (p.Phe166Val) c.985T>G (p.Phe329Val) c.582T>G (p.Cys194Trp) c.331T>G (p.Phe111Val) c.319+2090T>G c.1215T>G (p.Cys405Trp) | |
11 | g.71435722A>G | CA381702119 | DHCR7 | c.1081T>C (p.Phe361Leu) c.907T>C (p.Phe303Leu) c.1132T>C (p.Phe378Leu) c.1117T>C (p.Phe373Leu) c.1089T>C (p.Cys363=) n.1121T>C c.496T>C (p.Phe166Leu) c.985T>C (p.Phe329Leu) c.582T>C (p.Cys194=) c.331T>C (p.Phe111Leu) c.319+2090T>C c.1215T>C (p.Cys405=) | |
11 | g.71435722A>T | CA381702121 | DHCR7 | c.1081T>A (p.Phe361Ile) c.907T>A (p.Phe303Ile) c.1132T>A (p.Phe378Ile) c.1117T>A (p.Phe373Ile) c.1089T>A (p.Cys363Ter) n.1121T>A c.496T>A (p.Phe166Ile) c.985T>A (p.Phe329Ile) c.582T>A (p.Cys194Ter) c.331T>A (p.Phe111Ile) c.319+2090T>A c.1215T>A (p.Cys405Ter) | |
11 | g.71435723_71435724del | CA16041546 | DHCR7 | c.1080_1081del (p.Phe361ProfsTer?) c.906_907del (p.Phe303ProfsTer?) c.1131_1132del (p.Phe378ProfsTer?) c.1116_1117del (p.Phe373ProfsTer?) c.1088_1089del (p.Cys363PhefsTer?) n.1120_1121del c.495_496del (p.Phe166ProfsTer?) c.984_985del (p.Phe329ProfsTer?) c.581_582del (p.Cys194PhefsTer?) c.330_331del (p.Phe111ProfsTer?) c.319+2089_319+2090del c.1214_1215del (p.Cys405PhefsTer?) | ClinVar dbSNP |
11 | g.71435723C>A | CA381702124 | DHCR7 | c.1080G>T (p.Leu360=) c.906G>T (p.Leu302=) c.1131G>T (p.Leu377=) c.1116G>T (p.Leu372=) c.1088G>T (p.Cys363Phe) n.1120G>T c.495G>T (p.Leu165=) c.984G>T (p.Leu328=) c.581G>T (p.Cys194Phe) c.330G>T (p.Leu110=) c.319+2089G>T c.1214G>T (p.Cys405Phe) | |
11 | g.71435723C>G | CA381702125 | DHCR7 | c.1080G>C (p.Leu360=) c.906G>C (p.Leu302=) c.1131G>C (p.Leu377=) c.1116G>C (p.Leu372=) c.1088G>C (p.Cys363Ser) n.1120G>C c.495G>C (p.Leu165=) c.984G>C (p.Leu328=) c.581G>C (p.Cys194Ser) c.330G>C (p.Leu110=) c.319+2089G>C c.1214G>C (p.Cys405Ser) | |
11 | g.71435723C>T | CA381702126 | DHCR7 | c.1080G>A (p.Leu360=) c.906G>A (p.Leu302=) c.1131G>A (p.Leu377=) c.1116G>A (p.Leu372=) c.1088G>A (p.Cys363Tyr) n.1120G>A c.495G>A (p.Leu165=) c.984G>A (p.Leu328=) c.581G>A (p.Cys194Tyr) c.330G>A (p.Leu110=) c.319+2089G>A c.1214G>A (p.Cys405Tyr) | |
11 | g.71435724A= | CA1981486983 | DHCR7 | c.1079T= (p.Leu360=) c.905T= (p.Leu302=) c.1130T= (p.Leu377=) c.1115T= (p.Leu372=) c.1087T= (p.Cys363=) n.1119T= c.494T= (p.Leu165=) c.983T= (p.Leu328=) c.580T= (p.Cys194=) c.329T= (p.Leu110=) c.319+2088T= c.1213T= (p.Cys405=) | |
11 | g.71435724A>C | CA381702130 | DHCR7 | c.1079T>G (p.Leu360Arg) c.905T>G (p.Leu302Arg) c.1130T>G (p.Leu377Arg) c.1115T>G (p.Leu372Arg) c.1087T>G (p.Cys363Gly) n.1119T>G c.494T>G (p.Leu165Arg) c.983T>G (p.Leu328Arg) c.580T>G (p.Cys194Gly) c.329T>G (p.Leu110Arg) c.319+2088T>G c.1213T>G (p.Cys405Gly) | |
11 | g.71435724A>G | CA381702131 | DHCR7 | c.1079T>C (p.Leu360Pro) c.905T>C (p.Leu302Pro) c.1130T>C (p.Leu377Pro) c.1115T>C (p.Leu372Pro) c.1087T>C (p.Cys363Arg) n.1119T>C c.494T>C (p.Leu165Pro) c.983T>C (p.Leu328Pro) c.580T>C (p.Cys194Arg) c.329T>C (p.Leu110Pro) c.319+2088T>C c.1213T>C (p.Cys405Arg) | ClinVar dbSNP |
11 | g.71435724A>T | CA381702128 | DHCR7 | c.1079T>A (p.Leu360Gln) c.905T>A (p.Leu302Gln) c.1130T>A (p.Leu377Gln) c.1115T>A (p.Leu372Gln) c.1087T>A (p.Cys363Ser) n.1119T>A c.494T>A (p.Leu165Gln) c.983T>A (p.Leu328Gln) c.580T>A (p.Cys194Ser) c.329T>A (p.Leu110Gln) c.319+2088T>A c.1213T>A (p.Cys405Ser) | COSMIC COSMIC |
11 | g.71435725G>A | CA475861116 | DHCR7 | c.1078C>T (p.Leu360=) c.904C>T (p.Leu302=) c.1129C>T (p.Leu377=) c.1114C>T (p.Leu372=) c.1086C>T (p.Thr362=) n.1118C>T c.493C>T (p.Leu165=) c.982C>T (p.Leu328=) c.579C>T (p.Thr193=) c.328C>T (p.Leu110=) c.319+2087C>T c.1212C>T (p.Thr404=) | |
11 | g.71435725G>C | CA381702132 | DHCR7 | c.1078C>G (p.Leu360Val) c.904C>G (p.Leu302Val) c.1129C>G (p.Leu377Val) c.1114C>G (p.Leu372Val) c.1086C>G (p.Thr362=) n.1118C>G c.493C>G (p.Leu165Val) c.982C>G (p.Leu328Val) c.579C>G (p.Thr193=) c.328C>G (p.Leu110Val) c.319+2087C>G c.1212C>G (p.Thr404=) | |
11 | g.71435725G= | CA1981486984 | DHCR7 | c.1078C= (p.Leu360=) c.904C= (p.Leu302=) c.1129C= (p.Leu377=) c.1114C= (p.Leu372=) c.1086C= (p.Thr362=) n.1118C= c.493C= (p.Leu165=) c.982C= (p.Leu328=) c.579C= (p.Thr193=) c.328C= (p.Leu110=) c.319+2087C= c.1212C= (p.Thr404=) | |
11 | g.71435725G>T | CA381702134 | DHCR7 | c.1078C>A (p.Leu360Met) c.904C>A (p.Leu302Met) c.1129C>A (p.Leu377Met) c.1114C>A (p.Leu372Met) c.1086C>A (p.Thr362=) n.1118C>A c.493C>A (p.Leu165Met) c.982C>A (p.Leu328Met) c.579C>A (p.Thr193=) c.328C>A (p.Leu110Met) c.319+2087C>A c.1212C>A (p.Thr404=) | |
11 | g.71435726G>A | CA381702136 | DHCR7 | c.1077C>T (p.Asp359=) c.903C>T (p.Asp301=) c.1128C>T (p.Asp376=) c.1113C>T (p.Asp371=) c.1085C>T (p.Thr362Ile) n.1117C>T c.492C>T (p.Asp164=) c.981C>T (p.Asp327=) c.578C>T (p.Thr193Ile) c.327C>T (p.Asp109=) c.319+2086C>T c.1211C>T (p.Thr404Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71435726G>C | CA381702137 | DHCR7 | c.1077C>G (p.Asp359Glu) c.903C>G (p.Asp301Glu) c.1128C>G (p.Asp376Glu) c.1113C>G (p.Asp371Glu) c.1085C>G (p.Thr362Ser) n.1117C>G c.492C>G (p.Asp164Glu) c.981C>G (p.Asp327Glu) c.578C>G (p.Thr193Ser) c.327C>G (p.Asp109Glu) c.319+2086C>G c.1211C>G (p.Thr404Ser) | ClinVar |
11 | g.71435726G= | CA1981486985 | DHCR7 | c.1077C= (p.Asp359=) c.903C= (p.Asp301=) c.1128C= (p.Asp376=) c.1113C= (p.Asp371=) c.1085C= (p.Thr362=) n.1117C= c.492C= (p.Asp164=) c.981C= (p.Asp327=) c.578C= (p.Thr193=) c.327C= (p.Asp109=) c.319+2086C= c.1211C= (p.Thr404=) | |
11 | g.71435726G>T | CA381702139 | DHCR7 | c.1077C>A (p.Asp359Glu) c.903C>A (p.Asp301Glu) c.1128C>A (p.Asp376Glu) c.1113C>A (p.Asp371Glu) c.1085C>A (p.Thr362Asn) n.1117C>A c.492C>A (p.Asp164Glu) c.981C>A (p.Asp327Glu) c.578C>A (p.Thr193Asn) c.327C>A (p.Asp109Glu) c.319+2086C>A c.1211C>A (p.Thr404Asn) | dbSNP |
11 | g.71435726_71435727dup | CA600241192 | DHCR7 | c.1076_1077dup (p.Leu360ThrfsTer?) c.902_903dup (p.Leu302ThrfsTer?) c.1127_1128dup (p.Leu377ThrfsTer?) c.1112_1113dup (p.Leu372ThrfsTer?) c.1084_1085dup (p.Cys363ProfsTer?) n.1116_1117dup c.491_492dup (p.Leu165ThrfsTer?) c.980_981dup (p.Leu328ThrfsTer?) c.577_578dup (p.Cys194ProfsTer?) c.326_327dup (p.Leu110ThrfsTer?) c.319+2085_319+2086dup c.1210_1211dup (p.Cys405ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |