| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435726_71435727dup | CA600241192 | DHCR7 | c.1076_1077dup (p.Leu360ThrfsTer?) c.902_903dup (p.Leu302ThrfsTer?) c.1127_1128dup (p.Leu377ThrfsTer?) c.1112_1113dup (p.Leu372ThrfsTer?) c.1084_1085dup (p.Cys363ProfsTer?) n.1116_1117dup c.491_492dup (p.Leu165ThrfsTer?) c.980_981dup (p.Leu328ThrfsTer?) c.577_578dup (p.Cys194ProfsTer?) c.326_327dup (p.Leu110ThrfsTer?) c.319+2085_319+2086dup c.1210_1211dup (p.Cys405ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435727T>A | CA381702144 | DHCR7 | c.1076A>T (p.Asp359Val) c.902A>T (p.Asp301Val) c.1127A>T (p.Asp376Val) c.1112A>T (p.Asp371Val) c.1084A>T (p.Thr362Ser) n.1116A>T c.491A>T (p.Asp164Val) c.980A>T (p.Asp327Val) c.577A>T (p.Thr193Ser) c.326A>T (p.Asp109Val) c.319+2085A>T c.1210A>T (p.Thr404Ser) | |
| 11 | g.71435727T>C | CA381702142 | DHCR7 | c.1076A>G (p.Asp359Gly) c.902A>G (p.Asp301Gly) c.1127A>G (p.Asp376Gly) c.1112A>G (p.Asp371Gly) c.1084A>G (p.Thr362Ala) n.1116A>G c.491A>G (p.Asp164Gly) c.980A>G (p.Asp327Gly) c.577A>G (p.Thr193Ala) c.326A>G (p.Asp109Gly) c.319+2085A>G c.1210A>G (p.Thr404Ala) | gnomAD v4 |
| 11 | g.71435727T>G | CA381702140 | DHCR7 | c.1076A>C (p.Asp359Ala) c.902A>C (p.Asp301Ala) c.1127A>C (p.Asp376Ala) c.1112A>C (p.Asp371Ala) c.1084A>C (p.Thr362Pro) n.1116A>C c.491A>C (p.Asp164Ala) c.980A>C (p.Asp327Ala) c.577A>C (p.Thr193Pro) c.326A>C (p.Asp109Ala) c.319+2085A>C c.1210A>C (p.Thr404Pro) | dbSNP |
| 11 | g.71435727T= | CA1981486986 | DHCR7 | c.1076A= (p.Asp359=) c.902A= (p.Asp301=) c.1127A= (p.Asp376=) c.1112A= (p.Asp371=) c.1084A= (p.Thr362=) n.1116A= c.491A= (p.Asp164=) c.980A= (p.Asp327=) c.577A= (p.Thr193=) c.326A= (p.Asp109=) c.319+2085A= c.1210A= (p.Thr404=) | |
| 11 | g.71435728C>A | CA381702145 | DHCR7 | c.1075G>T (p.Asp359Tyr) c.901G>T (p.Asp301Tyr) c.1126G>T (p.Asp376Tyr) c.1111G>T (p.Asp371Tyr) c.1083G>T (p.Arg361Ser) n.1115G>T c.490G>T (p.Asp164Tyr) c.979G>T (p.Asp327Tyr) c.576G>T (p.Arg192Ser) c.325G>T (p.Asp109Tyr) c.319+2084G>T c.1209G>T (p.Arg403Ser) | |
| 11 | g.71435728C>G | CA381702146 | DHCR7 | c.1075G>C (p.Asp359His) c.901G>C (p.Asp301His) c.1126G>C (p.Asp376His) c.1111G>C (p.Asp371His) c.1083G>C (p.Arg361Ser) n.1115G>C c.490G>C (p.Asp164His) c.979G>C (p.Asp327His) c.576G>C (p.Arg192Ser) c.325G>C (p.Asp109His) c.319+2084G>C c.1209G>C (p.Arg403Ser) | |
| 11 | g.71435728C>T | CA381702147 | DHCR7 | c.1075G>A (p.Asp359Asn) c.901G>A (p.Asp301Asn) c.1126G>A (p.Asp376Asn) c.1111G>A (p.Asp371Asn) c.1083G>A (p.Arg361=) n.1115G>A c.490G>A (p.Asp164Asn) c.979G>A (p.Asp327Asn) c.576G>A (p.Arg192=) c.325G>A (p.Asp109Asn) c.319+2084G>A c.1209G>A (p.Arg403=) | |
| 11 | g.71435729C>A | CA381702148 | DHCR7 | c.1074G>T (p.Lys358Asn) c.900G>T (p.Lys300Asn) c.1125G>T (p.Lys375Asn) c.1110G>T (p.Lys370Asn) c.1082G>T (p.Arg361Met) n.1114G>T c.489G>T (p.Lys163Asn) c.978G>T (p.Lys326Asn) c.575G>T (p.Arg192Met) c.324G>T (p.Lys108Asn) c.319+2083G>T c.1208G>T (p.Arg403Met) | |
| 11 | g.71435729C= | CA1981486987 | DHCR7 | c.1074G= (p.Lys358=) c.900G= (p.Lys300=) c.1125G= (p.Lys375=) c.1110G= (p.Lys370=) c.1082G= (p.Arg361=) n.1114G= c.489G= (p.Lys163=) c.978G= (p.Lys326=) c.575G= (p.Arg192=) c.324G= (p.Lys108=) c.319+2083G= c.1208G= (p.Arg403=) | |
| 11 | g.71435729C>G | CA381702149 | DHCR7 | c.1074G>C (p.Lys358Asn) c.900G>C (p.Lys300Asn) c.1125G>C (p.Lys375Asn) c.1110G>C (p.Lys370Asn) c.1082G>C (p.Arg361Thr) n.1114G>C c.489G>C (p.Lys163Asn) c.978G>C (p.Lys326Asn) c.575G>C (p.Arg192Thr) c.324G>C (p.Lys108Asn) c.319+2083G>C c.1208G>C (p.Arg403Thr) | |
| 11 | g.71435729C>T | CA6162321 | DHCR7 | c.1074G>A (p.Lys358=) c.900G>A (p.Lys300=) c.1125G>A (p.Lys375=) c.1110G>A (p.Lys370=) c.1082G>A (p.Arg361Lys) n.1114G>A c.489G>A (p.Lys163=) c.978G>A (p.Lys326=) c.575G>A (p.Arg192Lys) c.324G>A (p.Lys108=) c.319+2083G>A c.1208G>A (p.Arg403Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71435729_71435730delinsCT | CA1981486988 | DHCR7 | c.1073_1074delinsAG (p.Lys358=) c.899_900delinsAG (p.Lys300=) c.1124_1125delinsAG (p.Lys375=) c.1109_1110delinsAG (p.Lys370=) c.1081_1082delinsAG (p.Arg361=) n.1113_1114delinsAG c.488_489delinsAG (p.Lys163=) c.977_978delinsAG (p.Lys326=) c.574_575delinsAG (p.Arg192=) c.323_324delinsAG (p.Lys108=) c.319+2082_319+2083delinsAG c.1207_1208delinsAG (p.Arg403=) | |
| 11 | g.71435730T>A | CA381702152 | DHCR7 | c.1073A>T (p.Lys358Met) c.899A>T (p.Lys300Met) c.1124A>T (p.Lys375Met) c.1109A>T (p.Lys370Met) c.1081A>T (p.Arg361Trp) n.1113A>T c.488A>T (p.Lys163Met) c.977A>T (p.Lys326Met) c.574A>T (p.Arg192Trp) c.323A>T (p.Lys108Met) c.319+2082A>T c.1207A>T (p.Arg403Trp) | |
| 11 | g.71435730T>C | CA381702155 | DHCR7 | c.1073A>G (p.Lys358Arg) c.899A>G (p.Lys300Arg) c.1124A>G (p.Lys375Arg) c.1109A>G (p.Lys370Arg) c.1081A>G (p.Arg361Gly) n.1113A>G c.488A>G (p.Lys163Arg) c.977A>G (p.Lys326Arg) c.574A>G (p.Arg192Gly) c.323A>G (p.Lys108Arg) c.319+2082A>G c.1207A>G (p.Arg403Gly) | |
| 11 | g.71435730T>G | CA381702154 | DHCR7 | c.1073A>C (p.Lys358Thr) c.899A>C (p.Lys300Thr) c.1124A>C (p.Lys375Thr) c.1109A>C (p.Lys370Thr) c.1081A>C (p.Arg361=) n.1113A>C c.488A>C (p.Lys163Thr) c.977A>C (p.Lys326Thr) c.574A>C (p.Arg192=) c.323A>C (p.Lys108Thr) c.319+2082A>C c.1207A>C (p.Arg403=) | dbSNP |
| 11 | g.71435730T= | CA1981486989 | DHCR7 | c.1073A= (p.Lys358=) c.899A= (p.Lys300=) c.1124A= (p.Lys375=) c.1109A= (p.Lys370=) c.1081A= (p.Arg361=) n.1113A= c.488A= (p.Lys163=) c.977A= (p.Lys326=) c.574A= (p.Arg192=) c.323A= (p.Lys108=) c.319+2082A= c.1207A= (p.Arg403=) | |
| 11 | g.71435731del | CA1981486990 | DHCR7 | c.1073del (p.Lys358ArgfsTer?) c.899del (p.Lys300ArgfsTer?) c.1124del (p.Lys375ArgfsTer?) c.1109del (p.Lys370ArgfsTer?) c.1081del (p.Arg361GlyfsTer?) n.1113del c.488del (p.Lys163ArgfsTer?) c.977del (p.Lys326ArgfsTer?) c.574del (p.Arg192GlyfsTer?) c.323del (p.Lys108ArgfsTer?) c.319+2082del c.1207del (p.Arg403GlyfsTer?) | dbSNP |
| 11 | g.71435731T>A | CA381702156 | DHCR7 | c.1072A>T (p.Lys358Ter) c.898A>T (p.Lys300Ter) c.1123A>T (p.Lys375Ter) c.1108A>T (p.Lys370Ter) c.1080A>T (p.Arg360Ser) n.1112A>T c.487A>T (p.Lys163Ter) c.976A>T (p.Lys326Ter) c.573A>T (p.Arg191Ser) c.322A>T (p.Lys108Ter) c.319+2081A>T c.1206A>T (p.Arg402Ser) | |
| 11 | g.71435731T>C | CA381702157 | DHCR7 | c.1072A>G (p.Lys358Glu) c.898A>G (p.Lys300Glu) c.1123A>G (p.Lys375Glu) c.1108A>G (p.Lys370Glu) c.1080A>G (p.Arg360=) n.1112A>G c.487A>G (p.Lys163Glu) c.976A>G (p.Lys326Glu) c.573A>G (p.Arg191=) c.322A>G (p.Lys108Glu) c.319+2081A>G c.1206A>G (p.Arg402=) | |
| 11 | g.71435731T>G | CA381702158 | DHCR7 | c.1072A>C (p.Lys358Gln) c.898A>C (p.Lys300Gln) c.1123A>C (p.Lys375Gln) c.1108A>C (p.Lys370Gln) c.1080A>C (p.Arg360Ser) n.1112A>C c.487A>C (p.Lys163Gln) c.976A>C (p.Lys326Gln) c.573A>C (p.Arg191Ser) c.322A>C (p.Lys108Gln) c.319+2081A>C c.1206A>C (p.Arg402Ser) | |
| 11 | g.71435732C>A | CA6162322 | DHCR7 | c.1071G>T (p.Gln357His) c.897G>T (p.Gln299His) c.1122G>T (p.Gln374His) c.1107G>T (p.Gln369His) c.1079G>T (p.Arg360Ile) n.1111G>T c.486G>T (p.Gln162His) c.975G>T (p.Gln325His) c.572G>T (p.Arg191Ile) c.321G>T (p.Gln107His) c.319+2080G>T c.1205G>T (p.Arg402Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71435732C= | CA1981486991 | DHCR7 | c.1071G= (p.Gln357=) c.897G= (p.Gln299=) c.1122G= (p.Gln374=) c.1107G= (p.Gln369=) c.1079G= (p.Arg360=) n.1111G= c.486G= (p.Gln162=) c.975G= (p.Gln325=) c.572G= (p.Arg191=) c.321G= (p.Gln107=) c.319+2080G= c.1205G= (p.Arg402=) | |
| 11 | g.71435732C>G | CA381702159 | DHCR7 | c.1071G>C (p.Gln357His) c.897G>C (p.Gln299His) c.1122G>C (p.Gln374His) c.1107G>C (p.Gln369His) c.1079G>C (p.Arg360Thr) n.1111G>C c.486G>C (p.Gln162His) c.975G>C (p.Gln325His) c.572G>C (p.Arg191Thr) c.321G>C (p.Gln107His) c.319+2080G>C c.1205G>C (p.Arg402Thr) | |
| 11 | g.71435732C>T | CA381702160 | DHCR7 | c.1071G>A (p.Gln357=) c.897G>A (p.Gln299=) c.1122G>A (p.Gln374=) c.1107G>A (p.Gln369=) c.1079G>A (p.Arg360Lys) n.1111G>A c.486G>A (p.Gln162=) c.975G>A (p.Gln325=) c.572G>A (p.Arg191Lys) c.321G>A (p.Gln107=) c.319+2080G>A c.1205G>A (p.Arg402Lys) | |
| 11 | g.71435733T>A | CA381702161 | DHCR7 | c.1070A>T (p.Gln357Leu) c.896A>T (p.Gln299Leu) c.1121A>T (p.Gln374Leu) c.1106A>T (p.Gln369Leu) c.1078A>T (p.Arg360Ter) n.1110A>T c.485A>T (p.Gln162Leu) c.974A>T (p.Gln325Leu) c.571A>T (p.Arg191Ter) c.320A>T (p.Gln107Leu) c.319+2079A>T c.1204A>T (p.Arg402Ter) | |
| 11 | g.71435733T>C | CA381702162 | DHCR7 | c.1070A>G (p.Gln357Arg) c.896A>G (p.Gln299Arg) c.1121A>G (p.Gln374Arg) c.1106A>G (p.Gln369Arg) c.1078A>G (p.Arg360Gly) n.1110A>G c.485A>G (p.Gln162Arg) c.974A>G (p.Gln325Arg) c.571A>G (p.Arg191Gly) c.320A>G (p.Gln107Arg) c.319+2079A>G c.1204A>G (p.Arg402Gly) | gnomAD v4 |
| 11 | g.71435733T>G | CA381702163 | DHCR7 | c.1070A>C (p.Gln357Pro) c.896A>C (p.Gln299Pro) c.1121A>C (p.Gln374Pro) c.1106A>C (p.Gln369Pro) c.1078A>C (p.Arg360=) n.1110A>C c.485A>C (p.Gln162Pro) c.974A>C (p.Gln325Pro) c.571A>C (p.Arg191=) c.320A>C (p.Gln107Pro) c.319+2079A>C c.1204A>C (p.Arg402=) | |
| 11 | g.71435737_71435739del | CA2614857236 | DHCR7 | c.1068_1070del (p.His356del) c.894_896del (p.His298del) c.1119_1121del (p.His373del) c.1104_1106del (p.His368del) c.1076_1078del (p.Thr359del) n.1108_1110del c.483_485del (p.His161del) c.972_974del (p.His324del) c.569_571del (p.Thr190del) c.318_320del (p.His106del) c.319+2077_319+2079del c.1202_1204del (p.Thr401del) | gnomAD v4 |
| 11 | g.71435734G>A | CA381702164 | DHCR7 | c.1069C>T (p.Gln357Ter) c.895C>T (p.Gln299Ter) c.1120C>T (p.Gln374Ter) c.1105C>T (p.Gln369Ter) c.1077C>T (p.Thr359=) n.1109C>T c.484C>T (p.Gln162Ter) c.973C>T (p.Gln325Ter) c.570C>T (p.Thr190=) c.319C>T (p.Gln107Ter) c.319+2078C>T c.1203C>T (p.Thr401=) | |
| 11 | g.71435734G>C | CA381702166 | DHCR7 | c.1069C>G (p.Gln357Glu) c.895C>G (p.Gln299Glu) c.1120C>G (p.Gln374Glu) c.1105C>G (p.Gln369Glu) c.1077C>G (p.Thr359=) n.1109C>G c.484C>G (p.Gln162Glu) c.973C>G (p.Gln325Glu) c.570C>G (p.Thr190=) c.319C>G (p.Gln107Glu) c.319+2078C>G c.1203C>G (p.Thr401=) | |
| 11 | g.71435734G>T | CA381702170 | DHCR7 | c.1069C>A (p.Gln357Lys) c.895C>A (p.Gln299Lys) c.1120C>A (p.Gln374Lys) c.1105C>A (p.Gln369Lys) c.1077C>A (p.Thr359=) n.1109C>A c.484C>A (p.Gln162Lys) c.973C>A (p.Gln325Lys) c.570C>A (p.Thr190=) c.319C>A (p.Gln107Lys) c.319+2078C>A c.1203C>A (p.Thr401=) | |
| 11 | g.71435735G>A | CA381702171 | DHCR7 | c.1068C>T (p.His356=) c.894C>T (p.His298=) c.1119C>T (p.His373=) c.1104C>T (p.His368=) c.1076C>T (p.Thr359Ile) n.1108C>T c.483C>T (p.His161=) c.972C>T (p.His324=) c.569C>T (p.Thr190Ile) c.318C>T (p.His106=) c.319+2077C>T c.1202C>T (p.Thr401Ile) | dbSNP gnomAD v2 |
| 11 | g.71435735G>C | CA381702174 | DHCR7 | c.1068C>G (p.His356Gln) c.894C>G (p.His298Gln) c.1119C>G (p.His373Gln) c.1104C>G (p.His368Gln) c.1076C>G (p.Thr359Ser) n.1108C>G c.483C>G (p.His161Gln) c.972C>G (p.His324Gln) c.569C>G (p.Thr190Ser) c.318C>G (p.His106Gln) c.319+2077C>G c.1202C>G (p.Thr401Ser) | |
| 11 | g.71435735G= | CA1981486992 | DHCR7 | c.1068C= (p.His356=) c.894C= (p.His298=) c.1119C= (p.His373=) c.1104C= (p.His368=) c.1076C= (p.Thr359=) n.1108C= c.483C= (p.His161=) c.972C= (p.His324=) c.569C= (p.Thr190=) c.318C= (p.His106=) c.319+2077C= c.1202C= (p.Thr401=) | |
| 11 | g.71435735G>T | CA381702173 | DHCR7 | c.1068C>A (p.His356Gln) c.894C>A (p.His298Gln) c.1119C>A (p.His373Gln) c.1104C>A (p.His368Gln) c.1076C>A (p.Thr359Asn) n.1108C>A c.483C>A (p.His161Gln) c.972C>A (p.His324Gln) c.569C>A (p.Thr190Asn) c.318C>A (p.His106Gln) c.319+2077C>A c.1202C>A (p.Thr401Asn) | |
| 11 | g.71435736T>A | CA381702176 | DHCR7 | c.1067A>T (p.His356Leu) c.893A>T (p.His298Leu) c.1118A>T (p.His373Leu) c.1103A>T (p.His368Leu) c.1075A>T (p.Thr359Ser) n.1107A>T c.482A>T (p.His161Leu) c.971A>T (p.His324Leu) c.568A>T (p.Thr190Ser) c.317A>T (p.His106Leu) c.319+2076A>T c.1201A>T (p.Thr401Ser) | |
| 11 | g.71435736T>C | CA381702179 | DHCR7 | c.1067A>G (p.His356Arg) c.893A>G (p.His298Arg) c.1118A>G (p.His373Arg) c.1103A>G (p.His368Arg) c.1075A>G (p.Thr359Ala) n.1107A>G c.482A>G (p.His161Arg) c.971A>G (p.His324Arg) c.568A>G (p.Thr190Ala) c.317A>G (p.His106Arg) c.319+2076A>G c.1201A>G (p.Thr401Ala) | |
| 11 | g.71435736T>G | CA381702178 | DHCR7 | c.1067A>C (p.His356Pro) c.893A>C (p.His298Pro) c.1118A>C (p.His373Pro) c.1103A>C (p.His368Pro) c.1075A>C (p.Thr359Pro) n.1107A>C c.482A>C (p.His161Pro) c.971A>C (p.His324Pro) c.568A>C (p.Thr190Pro) c.317A>C (p.His106Pro) c.319+2076A>C c.1201A>C (p.Thr401Pro) | |
| 11 | g.71435736_71435737delinsTG | CA1981486993 | DHCR7 | c.1066_1067delinsCA (p.His356=) c.892_893delinsCA (p.His298=) c.1117_1118delinsCA (p.His373=) c.1102_1103delinsCA (p.His368=) c.1074_1075delinsCA (p.Thr358=) n.1106_1107delinsCA c.481_482delinsCA (p.His161=) c.970_971delinsCA (p.His324=) c.567_568delinsCA (p.Thr189=) c.316_317delinsCA (p.His106=) c.319+2075_319+2076delinsCA c.1200_1201delinsCA (p.Thr400=) | |
| 11 | g.71435737G>A | CA381702181 | DHCR7 | c.1066C>T (p.His356Tyr) c.892C>T (p.His298Tyr) c.1117C>T (p.His373Tyr) c.1102C>T (p.His368Tyr) c.1074C>T (p.Thr358=) n.1106C>T c.481C>T (p.His161Tyr) c.970C>T (p.His324Tyr) c.567C>T (p.Thr189=) c.316C>T (p.His106Tyr) c.319+2075C>T c.1200C>T (p.Thr400=) | |
| 11 | g.71435737G>C | CA381702183 | DHCR7 | c.1066C>G (p.His356Asp) c.892C>G (p.His298Asp) c.1117C>G (p.His373Asp) c.1102C>G (p.His368Asp) c.1074C>G (p.Thr358=) n.1106C>G c.481C>G (p.His161Asp) c.970C>G (p.His324Asp) c.567C>G (p.Thr189=) c.316C>G (p.His106Asp) c.319+2075C>G c.1200C>G (p.Thr400=) | |
| 11 | g.71435737G>T | CA381702184 | DHCR7 | c.1066C>A (p.His356Asn) c.892C>A (p.His298Asn) c.1117C>A (p.His373Asn) c.1102C>A (p.His368Asn) c.1074C>A (p.Thr358=) n.1106C>A c.481C>A (p.His161Asn) c.970C>A (p.His324Asn) c.567C>A (p.Thr189=) c.316C>A (p.His106Asn) c.319+2075C>A c.1200C>A (p.Thr400=) | gnomAD v4 |
| 11 | g.71435738del | CA6162323 | DHCR7 | c.1066del (p.His356ThrfsTer?) c.892del (p.His298ThrfsTer?) c.1117del (p.His373ThrfsTer?) c.1102del (p.His368ThrfsTer?) c.1074del (p.Thr359ProfsTer?) n.1106del c.481del (p.His161ThrfsTer?) c.970del (p.His324ThrfsTer?) c.567del (p.Thr190ProfsTer?) c.316del (p.His106ThrfsTer?) c.319+2075del c.1200del (p.Thr401ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435738G>A | CA381702186 | DHCR7 | c.1065C>T (p.Asn355=) c.891C>T (p.Asn297=) c.1116C>T (p.Asn372=) c.1101C>T (p.Asn367=) c.1073C>T (p.Thr358Ile) n.1105C>T c.480C>T (p.Asn160=) c.969C>T (p.Asn323=) c.566C>T (p.Thr189Ile) c.315C>T (p.Asn105=) c.319+2074C>T c.1199C>T (p.Thr400Ile) | dbSNP |
| 11 | g.71435738G>C | CA381702187 | DHCR7 | c.1065C>G (p.Asn355Lys) c.891C>G (p.Asn297Lys) c.1116C>G (p.Asn372Lys) c.1101C>G (p.Asn367Lys) c.1073C>G (p.Thr358Ser) n.1105C>G c.480C>G (p.Asn160Lys) c.969C>G (p.Asn323Lys) c.566C>G (p.Thr189Ser) c.315C>G (p.Asn105Lys) c.319+2074C>G c.1199C>G (p.Thr400Ser) | |
| 11 | g.71435738G= | CA1981486994 | DHCR7 | c.1065C= (p.Asn355=) c.891C= (p.Asn297=) c.1116C= (p.Asn372=) c.1101C= (p.Asn367=) c.1073C= (p.Thr358=) n.1105C= c.480C= (p.Asn160=) c.969C= (p.Asn323=) c.566C= (p.Thr189=) c.315C= (p.Asn105=) c.319+2074C= c.1199C= (p.Thr400=) | |
| 11 | g.71435738G>T | CA381702189 | DHCR7 | c.1065C>A (p.Asn355Lys) c.891C>A (p.Asn297Lys) c.1116C>A (p.Asn372Lys) c.1101C>A (p.Asn367Lys) c.1073C>A (p.Thr358Asn) n.1105C>A c.480C>A (p.Asn160Lys) c.969C>A (p.Asn323Lys) c.566C>A (p.Thr189Asn) c.315C>A (p.Asn105Lys) c.319+2074C>A c.1199C>A (p.Thr400Asn) | |
| 11 | g.71435739T>A | CA381702191 | DHCR7 | c.1064A>T (p.Asn355Ile) c.890A>T (p.Asn297Ile) c.1115A>T (p.Asn372Ile) c.1100A>T (p.Asn367Ile) c.1072A>T (p.Thr358Ser) n.1104A>T c.479A>T (p.Asn160Ile) c.968A>T (p.Asn323Ile) c.565A>T (p.Thr189Ser) c.314A>T (p.Asn105Ile) c.319+2073A>T c.1198A>T (p.Thr400Ser) | |
| 11 | g.71435739T>C | CA381702193 | DHCR7 | c.1064A>G (p.Asn355Ser) c.890A>G (p.Asn297Ser) c.1115A>G (p.Asn372Ser) c.1100A>G (p.Asn367Ser) c.1072A>G (p.Thr358Ala) n.1104A>G c.479A>G (p.Asn160Ser) c.968A>G (p.Asn323Ser) c.565A>G (p.Thr189Ala) c.314A>G (p.Asn105Ser) c.319+2073A>G c.1198A>G (p.Thr400Ala) |