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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435613G>A | CA6162291 | DHCR7 | c.1190C>T (p.Ser397Leu) c.1016C>T (p.Ser339Leu) c.1241C>T (p.Ser414Leu) c.1226C>T (p.Ser409Leu) c.1198C>T (p.Arg400Trp) n.1230C>T c.605C>T (p.Ser202Leu) c.1094C>T (p.Ser365Leu) c.691C>T (p.Arg231Trp) c.440C>T (p.Ser147Leu) c.319+2199C>T c.1324C>T (p.Arg442Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435613G>C | CA381701579 | DHCR7 | c.1190C>G (p.Ser397Trp) c.1016C>G (p.Ser339Trp) c.1241C>G (p.Ser414Trp) c.1226C>G (p.Ser409Trp) c.1198C>G (p.Arg400Gly) n.1230C>G c.605C>G (p.Ser202Trp) c.1094C>G (p.Ser365Trp) c.691C>G (p.Arg231Gly) c.440C>G (p.Ser147Trp) c.319+2199C>G c.1324C>G (p.Arg442Gly) | |
| 11 | g.71435613G= | CA1981486915 | DHCR7 | c.1190C= (p.Ser397=) c.1016C= (p.Ser339=) c.1241C= (p.Ser414=) c.1226C= (p.Ser409=) c.1198C= (p.Arg400=) n.1230C= c.605C= (p.Ser202=) c.1094C= (p.Ser365=) c.691C= (p.Arg231=) c.440C= (p.Ser147=) c.319+2199C= c.1324C= (p.Arg442=) | |
| 11 | g.71435613G>T | CA381701580 | DHCR7 | c.1190C>A (p.Ser397Ter) c.1016C>A (p.Ser339Ter) c.1241C>A (p.Ser414Ter) c.1226C>A (p.Ser409Ter) c.1198C>A (p.Arg400=) n.1230C>A c.605C>A (p.Ser202Ter) c.1094C>A (p.Ser365Ter) c.691C>A (p.Arg231=) c.440C>A (p.Ser147Ter) c.319+2199C>A c.1324C>A (p.Arg442=) | gnomAD v4 |
| 11 | g.71435614A>C | CA381701581 | DHCR7 | c.1189T>G (p.Ser397Ala) c.1015T>G (p.Ser339Ala) c.1240T>G (p.Ser414Ala) c.1225T>G (p.Ser409Ala) c.1197T>G (p.Cys399Trp) n.1229T>G c.604T>G (p.Ser202Ala) c.1093T>G (p.Ser365Ala) c.690T>G (p.Cys230Trp) c.439T>G (p.Ser147Ala) c.319+2198T>G c.1323T>G (p.Cys441Trp) | |
| 11 | g.71435614A>G | CA381701582 | DHCR7 | c.1189T>C (p.Ser397Pro) c.1015T>C (p.Ser339Pro) c.1240T>C (p.Ser414Pro) c.1225T>C (p.Ser409Pro) c.1197T>C (p.Cys399=) n.1229T>C c.604T>C (p.Ser202Pro) c.1093T>C (p.Ser365Pro) c.690T>C (p.Cys230=) c.439T>C (p.Ser147Pro) c.319+2198T>C c.1323T>C (p.Cys441=) | |
| 11 | g.71435614A>T | CA381701583 | DHCR7 | c.1189T>A (p.Ser397Thr) c.1015T>A (p.Ser339Thr) c.1240T>A (p.Ser414Thr) c.1225T>A (p.Ser409Thr) c.1197T>A (p.Cys399Ter) n.1229T>A c.604T>A (p.Ser202Thr) c.1093T>A (p.Ser365Thr) c.690T>A (p.Cys230Ter) c.439T>A (p.Ser147Thr) c.319+2198T>A c.1323T>A (p.Cys441Ter) | |
| 11 | g.71435615C>A | CA381701584 | DHCR7 | c.1188G>T (p.Val396=) c.1014G>T (p.Val338=) c.1239G>T (p.Val413=) c.1224G>T (p.Val408=) c.1196G>T (p.Cys399Phe) n.1228G>T c.603G>T (p.Val201=) c.1092G>T (p.Val364=) c.689G>T (p.Cys230Phe) c.438G>T (p.Val146=) c.319+2197G>T c.1322G>T (p.Cys441Phe) | gnomAD v4 |
| 11 | g.71435615C= | CA1981486916 | DHCR7 | c.1188G= (p.Val396=) c.1014G= (p.Val338=) c.1239G= (p.Val413=) c.1224G= (p.Val408=) c.1196G= (p.Cys399=) n.1228G= c.603G= (p.Val201=) c.1092G= (p.Val364=) c.689G= (p.Cys230=) c.438G= (p.Val146=) c.319+2197G= c.1322G= (p.Cys441=) | |
| 11 | g.71435615C>G | CA381701585 | DHCR7 | c.1188G>C (p.Val396=) c.1014G>C (p.Val338=) c.1239G>C (p.Val413=) c.1224G>C (p.Val408=) c.1196G>C (p.Cys399Ser) n.1228G>C c.603G>C (p.Val201=) c.1092G>C (p.Val364=) c.689G>C (p.Cys230Ser) c.438G>C (p.Val146=) c.319+2197G>C c.1322G>C (p.Cys441Ser) | |
| 11 | g.71435615C>T | CA381701586 | DHCR7 | c.1188G>A (p.Val396=) c.1014G>A (p.Val338=) c.1239G>A (p.Val413=) c.1224G>A (p.Val408=) c.1196G>A (p.Cys399Tyr) n.1228G>A c.603G>A (p.Val201=) c.1092G>A (p.Val364=) c.689G>A (p.Cys230Tyr) c.438G>A (p.Val146=) c.319+2197G>A c.1322G>A (p.Cys441Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.71435617_71435619dup | CA2614857185 | DHCR7 | c.1186_1188dup (p.Val396_Ser397insVal) c.1012_1014dup (p.Val338_Ser339insVal) c.1237_1239dup (p.Val413_Ser414insVal) c.1222_1224dup (p.Val408_Ser409insVal) c.1194_1196dup (p.Trp398_Cys399insTrp) n.1226_1228dup c.601_603dup (p.Val201_Ser202insVal) c.1090_1092dup (p.Val364_Ser365insVal) c.687_689dup (p.Trp229_Cys230insTrp) c.436_438dup (p.Val146_Ser147insVal) c.319+2195_319+2197dup c.1320_1322dup (p.Trp440_Cys441insTrp) | gnomAD v4 |
| 11 | g.71435616A= | CA1981486917 | DHCR7 | c.1187T= (p.Val396=) c.1013T= (p.Val338=) c.1238T= (p.Val413=) c.1223T= (p.Val408=) c.1195T= (p.Cys399=) n.1227T= c.602T= (p.Val201=) c.1091T= (p.Val364=) c.688T= (p.Cys230=) c.437T= (p.Val146=) c.319+2196T= c.1321T= (p.Cys441=) | |
| 11 | g.71435616A>C | CA381701590 | DHCR7 | c.1187T>G (p.Val396Gly) c.1013T>G (p.Val338Gly) c.1238T>G (p.Val413Gly) c.1223T>G (p.Val408Gly) c.1195T>G (p.Cys399Gly) n.1227T>G c.602T>G (p.Val201Gly) c.1091T>G (p.Val364Gly) c.688T>G (p.Cys230Gly) c.437T>G (p.Val146Gly) c.319+2196T>G c.1321T>G (p.Cys441Gly) | |
| 11 | g.71435616A>G | CA381701588 | DHCR7 | c.1187T>C (p.Val396Ala) c.1013T>C (p.Val338Ala) c.1238T>C (p.Val413Ala) c.1223T>C (p.Val408Ala) c.1195T>C (p.Cys399Arg) n.1227T>C c.602T>C (p.Val201Ala) c.1091T>C (p.Val364Ala) c.688T>C (p.Cys230Arg) c.437T>C (p.Val146Ala) c.319+2196T>C c.1321T>C (p.Cys441Arg) | |
| 11 | g.71435616A>T | CA6162292 | DHCR7 | c.1187T>A (p.Val396Glu) c.1013T>A (p.Val338Glu) c.1238T>A (p.Val413Glu) c.1223T>A (p.Val408Glu) c.1195T>A (p.Cys399Ser) n.1227T>A c.602T>A (p.Val201Glu) c.1091T>A (p.Val364Glu) c.688T>A (p.Cys230Ser) c.437T>A (p.Val146Glu) c.319+2196T>A c.1321T>A (p.Cys441Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71435617C>A | CA381701593 | DHCR7 | c.1186G>T (p.Val396Leu) c.1012G>T (p.Val338Leu) c.1237G>T (p.Val413Leu) c.1222G>T (p.Val408Leu) c.1194G>T (p.Trp398Cys) n.1226G>T c.601G>T (p.Val201Leu) c.1090G>T (p.Val364Leu) c.687G>T (p.Trp229Cys) c.436G>T (p.Val146Leu) c.319+2195G>T c.1320G>T (p.Trp440Cys) | |
| 11 | g.71435617C= | CA1981486918 | DHCR7 | c.1186G= (p.Val396=) c.1012G= (p.Val338=) c.1237G= (p.Val413=) c.1222G= (p.Val408=) c.1194G= (p.Trp398=) n.1226G= c.601G= (p.Val201=) c.1090G= (p.Val364=) c.687G= (p.Trp229=) c.436G= (p.Val146=) c.319+2195G= c.1320G= (p.Trp440=) | |
| 11 | g.71435617C>G | CA381701594 | DHCR7 | c.1186G>C (p.Val396Leu) c.1012G>C (p.Val338Leu) c.1237G>C (p.Val413Leu) c.1222G>C (p.Val408Leu) c.1194G>C (p.Trp398Cys) n.1226G>C c.601G>C (p.Val201Leu) c.1090G>C (p.Val364Leu) c.687G>C (p.Trp229Cys) c.436G>C (p.Val146Leu) c.319+2195G>C c.1320G>C (p.Trp440Cys) | |
| 11 | g.71435617C>T | CA224324272 | DHCR7 | c.1186G>A (p.Val396Met) c.1012G>A (p.Val338Met) c.1237G>A (p.Val413Met) c.1222G>A (p.Val408Met) c.1194G>A (p.Trp398Ter) n.1226G>A c.601G>A (p.Val201Met) c.1090G>A (p.Val364Met) c.687G>A (p.Trp229Ter) c.436G>A (p.Val146Met) c.319+2195G>A c.1320G>A (p.Trp440Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71435618C>A | CA381701597 | DHCR7 | c.1185G>T (p.Leu395=) c.1011G>T (p.Leu337=) c.1236G>T (p.Leu412=) c.1221G>T (p.Leu407=) c.1193G>T (p.Trp398Leu) n.1225G>T c.600G>T (p.Leu200=) c.1089G>T (p.Leu363=) c.686G>T (p.Trp229Leu) c.435G>T (p.Leu145=) c.319+2194G>T c.1319G>T (p.Trp440Leu) | |
| 11 | g.71435618C>G | CA381701599 | DHCR7 | c.1185G>C (p.Leu395=) c.1011G>C (p.Leu337=) c.1236G>C (p.Leu412=) c.1221G>C (p.Leu407=) c.1193G>C (p.Trp398Ser) n.1225G>C c.600G>C (p.Leu200=) c.1089G>C (p.Leu363=) c.686G>C (p.Trp229Ser) c.435G>C (p.Leu145=) c.319+2194G>C c.1319G>C (p.Trp440Ser) | |
| 11 | g.71435618C>T | CA381701601 | DHCR7 | c.1185G>A (p.Leu395=) c.1011G>A (p.Leu337=) c.1236G>A (p.Leu412=) c.1221G>A (p.Leu407=) c.1193G>A (p.Trp398Ter) n.1225G>A c.600G>A (p.Leu200=) c.1089G>A (p.Leu363=) c.686G>A (p.Trp229Ter) c.435G>A (p.Leu145=) c.319+2194G>A c.1319G>A (p.Trp440Ter) | |
| 11 | g.71435619A= | CA1981486919 | DHCR7 | c.1184T= (p.Leu395=) c.1010T= (p.Leu337=) c.1235T= (p.Leu412=) c.1220T= (p.Leu407=) c.1192T= (p.Trp398=) n.1224T= c.599T= (p.Leu200=) c.1088T= (p.Leu363=) c.685T= (p.Trp229=) c.434T= (p.Leu145=) c.319+2193T= c.1318T= (p.Trp440=) | |
| 11 | g.71435619A>C | CA381701610 | DHCR7 | c.1184T>G (p.Leu395Arg) c.1010T>G (p.Leu337Arg) c.1235T>G (p.Leu412Arg) c.1220T>G (p.Leu407Arg) c.1192T>G (p.Trp398Gly) n.1224T>G c.599T>G (p.Leu200Arg) c.1088T>G (p.Leu363Arg) c.685T>G (p.Trp229Gly) c.434T>G (p.Leu145Arg) c.319+2193T>G c.1318T>G (p.Trp440Gly) | |
| 11 | g.71435619A>G | CA381701604 | DHCR7 | c.1184T>C (p.Leu395Pro) c.1010T>C (p.Leu337Pro) c.1235T>C (p.Leu412Pro) c.1220T>C (p.Leu407Pro) c.1192T>C (p.Trp398Arg) n.1224T>C c.599T>C (p.Leu200Pro) c.1088T>C (p.Leu363Pro) c.685T>C (p.Trp229Arg) c.434T>C (p.Leu145Pro) c.319+2193T>C c.1318T>C (p.Trp440Arg) | gnomAD v4 |
| 11 | g.71435619A>T | CA381701608 | DHCR7 | c.1184T>A (p.Leu395Gln) c.1010T>A (p.Leu337Gln) c.1235T>A (p.Leu412Gln) c.1220T>A (p.Leu407Gln) c.1192T>A (p.Trp398Arg) n.1224T>A c.599T>A (p.Leu200Gln) c.1088T>A (p.Leu363Gln) c.685T>A (p.Trp229Arg) c.434T>A (p.Leu145Gln) c.319+2193T>A c.1318T>A (p.Trp440Arg) | |
| 11 | g.71435619_71435620insC | CA600241191 | DHCR7 | c.1183_1184insG (p.Leu395ArgfsTer?) c.1009_1010insG (p.Leu337ArgfsTer?) c.1234_1235insG (p.Leu412ArgfsTer?) c.1219_1220insG (p.Leu407ArgfsTer?) c.1191_1192insG (p.Trp398ValfsTer?) n.1223_1224insG c.598_599insG (p.Leu200ArgfsTer?) c.1087_1088insG (p.Leu363ArgfsTer?) c.684_685insG (p.Trp229ValfsTer?) c.433_434insG (p.Leu145ArgfsTer?) c.319+2192_319+2193insG c.1317_1318insG (p.Trp440ValfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435620G>A | CA475861081 | DHCR7 | c.1183C>T (p.Leu395=) c.1009C>T (p.Leu337=) c.1234C>T (p.Leu412=) c.1219C>T (p.Leu407=) c.1191C>T (p.Cys397=) n.1223C>T c.598C>T (p.Leu200=) c.1087C>T (p.Leu363=) c.684C>T (p.Cys228=) c.433C>T (p.Leu145=) c.319+2192C>T c.1317C>T (p.Cys439=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435620G>C | CA381701612 | DHCR7 | c.1183C>G (p.Leu395Val) c.1009C>G (p.Leu337Val) c.1234C>G (p.Leu412Val) c.1219C>G (p.Leu407Val) c.1191C>G (p.Cys397Trp) n.1223C>G c.598C>G (p.Leu200Val) c.1087C>G (p.Leu363Val) c.684C>G (p.Cys228Trp) c.433C>G (p.Leu145Val) c.319+2192C>G c.1317C>G (p.Cys439Trp) | |
| 11 | g.71435620G= | CA1981486920 | DHCR7 | c.1183C= (p.Leu395=) c.1009C= (p.Leu337=) c.1234C= (p.Leu412=) c.1219C= (p.Leu407=) c.1191C= (p.Cys397=) n.1223C= c.598C= (p.Leu200=) c.1087C= (p.Leu363=) c.684C= (p.Cys228=) c.433C= (p.Leu145=) c.319+2192C= c.1317C= (p.Cys439=) | |
| 11 | g.71435620G>T | CA381701614 | DHCR7 | c.1183C>A (p.Leu395Met) c.1009C>A (p.Leu337Met) c.1234C>A (p.Leu412Met) c.1219C>A (p.Leu407Met) c.1191C>A (p.Cys397Ter) n.1223C>A c.598C>A (p.Leu200Met) c.1087C>A (p.Leu363Met) c.684C>A (p.Cys228Ter) c.433C>A (p.Leu145Met) c.319+2192C>A c.1317C>A (p.Cys439Ter) | |
| 11 | g.71435621C>A | CA381701617 | DHCR7 | c.1182G>T (p.Leu394=) c.1008G>T (p.Leu336=) c.1233G>T (p.Leu411=) c.1218G>T (p.Leu406=) c.1190G>T (p.Cys397Phe) n.1222G>T c.597G>T (p.Leu199=) c.1086G>T (p.Leu362=) c.683G>T (p.Cys228Phe) c.432G>T (p.Leu144=) c.319+2191G>T c.1316G>T (p.Cys439Phe) | |
| 11 | g.71435621C>G | CA381701618 | DHCR7 | c.1182G>C (p.Leu394=) c.1008G>C (p.Leu336=) c.1233G>C (p.Leu411=) c.1218G>C (p.Leu406=) c.1190G>C (p.Cys397Ser) n.1222G>C c.597G>C (p.Leu199=) c.1086G>C (p.Leu362=) c.683G>C (p.Cys228Ser) c.432G>C (p.Leu144=) c.319+2191G>C c.1316G>C (p.Cys439Ser) | |
| 11 | g.71435621C>T | CA381701620 | DHCR7 | c.1182G>A (p.Leu394=) c.1008G>A (p.Leu336=) c.1233G>A (p.Leu411=) c.1218G>A (p.Leu406=) c.1190G>A (p.Cys397Tyr) n.1222G>A c.597G>A (p.Leu199=) c.1086G>A (p.Leu362=) c.683G>A (p.Cys228Tyr) c.432G>A (p.Leu144=) c.319+2191G>A c.1316G>A (p.Cys439Tyr) | ClinVar dbSNP |
| 11 | g.71435622A>C | CA381701623 | DHCR7 | c.1181T>G (p.Leu394Arg) c.1007T>G (p.Leu336Arg) c.1232T>G (p.Leu411Arg) c.1217T>G (p.Leu406Arg) c.1189T>G (p.Cys397Gly) n.1221T>G c.596T>G (p.Leu199Arg) c.1085T>G (p.Leu362Arg) c.682T>G (p.Cys228Gly) c.431T>G (p.Leu144Arg) c.319+2190T>G c.1315T>G (p.Cys439Gly) | |
| 11 | g.71435622A>G | CA381701626 | DHCR7 | c.1181T>C (p.Leu394Pro) c.1007T>C (p.Leu336Pro) c.1232T>C (p.Leu411Pro) c.1217T>C (p.Leu406Pro) c.1189T>C (p.Cys397Arg) n.1221T>C c.596T>C (p.Leu199Pro) c.1085T>C (p.Leu362Pro) c.682T>C (p.Cys228Arg) c.431T>C (p.Leu144Pro) c.319+2190T>C c.1315T>C (p.Cys439Arg) | |
| 11 | g.71435622A>T | CA381701624 | DHCR7 | c.1181T>A (p.Leu394Gln) c.1007T>A (p.Leu336Gln) c.1232T>A (p.Leu411Gln) c.1217T>A (p.Leu406Gln) c.1189T>A (p.Cys397Ser) n.1221T>A c.596T>A (p.Leu199Gln) c.1085T>A (p.Leu362Gln) c.682T>A (p.Cys228Ser) c.431T>A (p.Leu144Gln) c.319+2190T>A c.1315T>A (p.Cys439Ser) | |
| 11 | g.71435623G>A | CA475861085 | DHCR7 | c.1180C>T (p.Leu394=) c.1006C>T (p.Leu336=) c.1231C>T (p.Leu411=) c.1216C>T (p.Leu406=) c.1188C>T (p.Ser396=) n.1220C>T c.595C>T (p.Leu199=) c.1084C>T (p.Leu362=) c.681C>T (p.Ser227=) c.430C>T (p.Leu144=) c.319+2189C>T c.1314C>T (p.Ser438=) | |
| 11 | g.71435623G>C | CA381701628 | DHCR7 | c.1180C>G (p.Leu394Val) c.1006C>G (p.Leu336Val) c.1231C>G (p.Leu411Val) c.1216C>G (p.Leu406Val) c.1188C>G (p.Ser396Arg) n.1220C>G c.595C>G (p.Leu199Val) c.1084C>G (p.Leu362Val) c.681C>G (p.Ser227Arg) c.430C>G (p.Leu144Val) c.319+2189C>G c.1314C>G (p.Ser438Arg) | gnomAD v4 |
| 11 | g.71435623G>T | CA381701633 | DHCR7 | c.1180C>A (p.Leu394Met) c.1006C>A (p.Leu336Met) c.1231C>A (p.Leu411Met) c.1216C>A (p.Leu406Met) c.1188C>A (p.Ser396Arg) n.1220C>A c.595C>A (p.Leu199Met) c.1084C>A (p.Leu362Met) c.681C>A (p.Ser227Arg) c.430C>A (p.Leu144Met) c.319+2189C>A c.1314C>A (p.Ser438Arg) | |
| 11 | g.71435624C>A | CA381701635 | DHCR7 | c.1179G>T (p.Lys393Asn) c.1005G>T (p.Lys335Asn) c.1230G>T (p.Lys410Asn) c.1215G>T (p.Lys405Asn) c.1187G>T (p.Ser396Ile) n.1219G>T c.594G>T (p.Lys198Asn) c.1083G>T (p.Lys361Asn) c.680G>T (p.Ser227Ile) c.429G>T (p.Lys143Asn) c.319+2188G>T c.1313G>T (p.Ser438Ile) | |
| 11 | g.71435624C= | CA1981486921 | DHCR7 | c.1179G= (p.Lys393=) c.1005G= (p.Lys335=) c.1230G= (p.Lys410=) c.1215G= (p.Lys405=) c.1187G= (p.Ser396=) n.1219G= c.594G= (p.Lys198=) c.1083G= (p.Lys361=) c.680G= (p.Ser227=) c.429G= (p.Lys143=) c.319+2188G= c.1313G= (p.Ser438=) | |
| 11 | g.71435624C>G | CA381701636 | DHCR7 | c.1179G>C (p.Lys393Asn) c.1005G>C (p.Lys335Asn) c.1230G>C (p.Lys410Asn) c.1215G>C (p.Lys405Asn) c.1187G>C (p.Ser396Thr) n.1219G>C c.594G>C (p.Lys198Asn) c.1083G>C (p.Lys361Asn) c.680G>C (p.Ser227Thr) c.429G>C (p.Lys143Asn) c.319+2188G>C c.1313G>C (p.Ser438Thr) | |
| 11 | g.71435624C>T | CA381701637 | DHCR7 | c.1179G>A (p.Lys393=) c.1005G>A (p.Lys335=) c.1230G>A (p.Lys410=) c.1215G>A (p.Lys405=) c.1187G>A (p.Ser396Asn) n.1219G>A c.594G>A (p.Lys198=) c.1083G>A (p.Lys361=) c.680G>A (p.Ser227Asn) c.429G>A (p.Lys143=) c.319+2188G>A c.1313G>A (p.Ser438Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71435625T>A | CA381701639 | DHCR7 | c.1178A>T (p.Lys393Met) c.1004A>T (p.Lys335Met) c.1229A>T (p.Lys410Met) c.1214A>T (p.Lys405Met) c.1186A>T (p.Ser396Cys) n.1218A>T c.593A>T (p.Lys198Met) c.1082A>T (p.Lys361Met) c.679A>T (p.Ser227Cys) c.428A>T (p.Lys143Met) c.319+2187A>T c.1312A>T (p.Ser438Cys) | |
| 11 | g.71435625T>C | CA381701640 | DHCR7 | c.1178A>G (p.Lys393Arg) c.1004A>G (p.Lys335Arg) c.1229A>G (p.Lys410Arg) c.1214A>G (p.Lys405Arg) c.1186A>G (p.Ser396Gly) n.1218A>G c.593A>G (p.Lys198Arg) c.1082A>G (p.Lys361Arg) c.679A>G (p.Ser227Gly) c.428A>G (p.Lys143Arg) c.319+2187A>G c.1312A>G (p.Ser438Gly) | |
| 11 | g.71435625T>G | CA381701642 | DHCR7 | c.1178A>C (p.Lys393Thr) c.1004A>C (p.Lys335Thr) c.1229A>C (p.Lys410Thr) c.1214A>C (p.Lys405Thr) c.1186A>C (p.Ser396Arg) n.1218A>C c.593A>C (p.Lys198Thr) c.1082A>C (p.Lys361Thr) c.679A>C (p.Ser227Arg) c.428A>C (p.Lys143Thr) c.319+2187A>C c.1312A>C (p.Ser438Arg) | |
| 11 | g.71435626T>A | CA381701650 | DHCR7 | c.1177A>T (p.Lys393Ter) c.1003A>T (p.Lys335Ter) c.1228A>T (p.Lys410Ter) c.1213A>T (p.Lys405Ter) c.1185A>T (p.Ala395=) n.1217A>T c.592A>T (p.Lys198Ter) c.1081A>T (p.Lys361Ter) c.678A>T (p.Ala226=) c.427A>T (p.Lys143Ter) c.319+2186A>T c.1311A>T (p.Ala437=) | |
| 11 | g.71435626T>C | CA381701652 | DHCR7 | c.1177A>G (p.Lys393Glu) c.1003A>G (p.Lys335Glu) c.1228A>G (p.Lys410Glu) c.1213A>G (p.Lys405Glu) c.1185A>G (p.Ala395=) n.1217A>G c.592A>G (p.Lys198Glu) c.1081A>G (p.Lys361Glu) c.678A>G (p.Ala226=) c.427A>G (p.Lys143Glu) c.319+2186A>G c.1311A>G (p.Ala437=) |