UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.64604739C>A | CA371334107 | CYP7B1 | c.1176G>T (p.Leu392Phe) n.450G>T c.1242G>T (p.Leu414Phe) | |
| 8 | g.64604739C>G | CA371334108 | CYP7B1 | c.1176G>C (p.Leu392Phe) n.450G>C c.1242G>C (p.Leu414Phe) | |
| 8 | g.64604739C>T | CA461118236 | CYP7B1 | c.1176G>A (p.Leu392=) n.450G>A c.1242G>A (p.Leu414=) | |
| 8 | g.64604740A>C | CA371334109 | CYP7B1 | c.1175T>G (p.Leu392Trp) n.449T>G c.1241T>G (p.Leu414Trp) | |
| 8 | g.64604740A>G | CA371334110 | CYP7B1 | c.1175T>C (p.Leu392Ser) n.449T>C c.1241T>C (p.Leu414Ser) | |
| 8 | g.64604740A>T | CA371334111 | CYP7B1 | c.1175T>A (p.Leu392Ter) n.449T>A c.1241T>A (p.Leu414Ter) | |
| 8 | g.64604741A>C | CA371334112 | CYP7B1 | c.1174T>G (p.Leu392Val) n.448T>G c.1240T>G (p.Leu414Val) | |
| 8 | g.64604741A>G | CA461118238 | CYP7B1 | c.1174T>C (p.Leu392=) n.448T>C c.1240T>C (p.Leu414=) | |
| 8 | g.64604741A>T | CA371334113 | CYP7B1 | c.1174T>A (p.Leu392Met) n.448T>A c.1240T>A (p.Leu414Met) | |
| 8 | g.64604742_64604743insGTAG | CA2687453876 | CYP7B1 | c.1174_1175insACCT (p.Leu392TyrfsTer13) n.448_449insACCT c.1240_1241insACCT (p.Leu414TyrfsTer13) | gnomAD v4 |
| 8 | g.64604742G>A | CA461118239 | CYP7B1 | c.1173C>T (p.Asp391=) n.447C>T c.1239C>T (p.Asp413=) | |
| 8 | g.64604742G>C | CA371334114 | CYP7B1 | c.1173C>G (p.Asp391Glu) n.447C>G c.1239C>G (p.Asp413Glu) | |
| 8 | g.64604742G>T | CA371334115 | CYP7B1 | c.1173C>A (p.Asp391Glu) n.447C>A c.1239C>A (p.Asp413Glu) | |
| 8 | g.64604743T>A | CA371334116 | CYP7B1 | c.1172A>T (p.Asp391Val) n.446A>T c.1238A>T (p.Asp413Val) | gnomAD v4 |
| 8 | g.64604743T>C | CA4764038 | CYP7B1 | c.1172A>G (p.Asp391Gly) n.446A>G c.1238A>G (p.Asp413Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604743T>G | CA371334117 | CYP7B1 | c.1172A>C (p.Asp391Ala) n.446A>C c.1238A>C (p.Asp413Ala) | |
| 8 | g.64604743T= | CA1789659696 | CYP7B1 | c.1172A= (p.Asp391=) n.446A= c.1238A= (p.Asp413=) | |
| 8 | g.64604744C>A | CA371334118 | CYP7B1 | c.1171G>T (p.Asp391Tyr) n.445G>T c.1237G>T (p.Asp413Tyr) | ClinVar |
| 8 | g.64604744C= | CA1789659697 | CYP7B1 | c.1171G= (p.Asp391=) n.445G= c.1237G= (p.Asp413=) | |
| 8 | g.64604744C>G | CA371334119 | CYP7B1 | c.1171G>C (p.Asp391His) n.445G>C c.1237G>C (p.Asp413His) | ClinVar dbSNP |
| 8 | g.64604744C>T | CA371334120 | CYP7B1 | c.1171G>A (p.Asp391Asn) n.445G>A c.1237G>A (p.Asp413Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604745T>A | CA461118246 | CYP7B1 | c.1170A>T (p.Gly390=) n.444A>T c.1236A>T (p.Gly412=) | |
| 8 | g.64604745T>C | CA461118245 | CYP7B1 | c.1170A>G (p.Gly390=) n.444A>G c.1236A>G (p.Gly412=) | gnomAD v4 |
| 8 | g.64604745T>G | CA461118243 | CYP7B1 | c.1170A>C (p.Gly390=) n.444A>C c.1236A>C (p.Gly412=) | |
| 8 | g.64604746C>A | CA371334123 | CYP7B1 | c.1169G>T (p.Gly390Val) n.443G>T c.1235G>T (p.Gly412Val) | |
| 8 | g.64604746C= | CA1789659698 | CYP7B1 | c.1169G= (p.Gly390=) n.443G= c.1235G= (p.Gly412=) | |
| 8 | g.64604746C>G | CA371334121 | CYP7B1 | c.1169G>C (p.Gly390Ala) n.443G>C c.1235G>C (p.Gly412Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64604746C>T | CA371334122 | CYP7B1 | c.1169G>A (p.Gly390Glu) n.443G>A c.1235G>A (p.Gly412Glu) | gnomAD v4 |
| 8 | g.64604747C>A | CA371334124 | CYP7B1 | c.1168G>T (p.Gly390Ter) n.442G>T c.1234G>T (p.Gly412Ter) | ClinVar dbSNP |
| 8 | g.64604747C= | CA1789659699 | CYP7B1 | c.1168G= (p.Gly390=) n.442G= c.1234G= (p.Gly412=) | |
| 8 | g.64604747C>G | CA371334125 | CYP7B1 | c.1168G>C (p.Gly390Arg) n.442G>C c.1234G>C (p.Gly412Arg) | |
| 8 | g.64604747C>T | CA4764039 | CYP7B1 | c.1168G>A (p.Gly390Arg) n.442G>A c.1234G>A (p.Gly412Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64604748C>A | CA371334126 | CYP7B1 | c.1167G>T (p.Lys389Asn) n.441G>T c.1233G>T (p.Lys411Asn) | |
| 8 | g.64604748C>G | CA371334127 | CYP7B1 | c.1167G>C (p.Lys389Asn) n.441G>C c.1233G>C (p.Lys411Asn) | |
| 8 | g.64604748C>T | CA461118247 | CYP7B1 | c.1167G>A (p.Lys389=) n.441G>A c.1233G>A (p.Lys411=) | |
| 8 | g.64604749T>A | CA371334128 | CYP7B1 | c.1166A>T (p.Lys389Met) n.440A>T c.1232A>T (p.Lys411Met) | |
| 8 | g.64604749T>C | CA371334130 | CYP7B1 | c.1166A>G (p.Lys389Arg) n.440A>G c.1232A>G (p.Lys411Arg) | |
| 8 | g.64604749T>G | CA371334129 | CYP7B1 | c.1166A>C (p.Lys389Thr) n.440A>C c.1232A>C (p.Lys411Thr) | |
| 8 | g.64604750T>A | CA371334131 | CYP7B1 | c.1165A>T (p.Lys389Ter) n.439A>T c.1231A>T (p.Lys411Ter) | |
| 8 | g.64604750T>C | CA371334132 | CYP7B1 | c.1165A>G (p.Lys389Glu) n.439A>G c.1231A>G (p.Lys411Glu) | |
| 8 | g.64604750T>G | CA371334133 | CYP7B1 | c.1165A>C (p.Lys389Gln) n.439A>C c.1231A>C (p.Lys411Gln) | |
| 8 | g.64604751T>A | CA461118248 | CYP7B1 | c.1164A>T (p.Arg388=) n.438A>T c.1230A>T (p.Arg410=) | |
| 8 | g.64604751T>C | CA461118250 | CYP7B1 | c.1164A>G (p.Arg388=) n.438A>G c.1230A>G (p.Arg410=) | |
| 8 | g.64604751T>G | CA461118249 | CYP7B1 | c.1164A>C (p.Arg388=) n.438A>C c.1230A>C (p.Arg410=) | |
| 8 | g.64604752C>A | CA371334134 | CYP7B1 | c.1163G>T (p.Arg388Leu) n.437G>T c.1229G>T (p.Arg410Leu) | |
| 8 | g.64604752C= | CA1789659700 | CYP7B1 | c.1163G= (p.Arg388=) n.437G= c.1229G= (p.Arg410=) | |
| 8 | g.64604752C>G | CA371334135 | CYP7B1 | c.1163G>C (p.Arg388Pro) n.437G>C c.1229G>C (p.Arg410Pro) | |
| 8 | g.64604752C>T | CA371334136 | CYP7B1 | c.1163G>A (p.Arg388Gln) n.437G>A c.1229G>A (p.Arg410Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.64604753G>A | CA117938 | CYP7B1 | c.1162C>T (p.Arg388Ter) n.436C>T c.1228C>T (p.Arg410Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.64604753G>C | CA371334137 | CYP7B1 | c.1162C>G (p.Arg388Gly) n.436C>G c.1228C>G (p.Arg410Gly) | ClinVar gnomAD v4 |
| 8 | g.64604753G= | CA1789659701 | CYP7B1 | c.1162C= (p.Arg388=) n.436C= c.1228C= (p.Arg410=) | |
| 8 | g.64604753G>T | CA461118251 | CYP7B1 | c.1162C>A (p.Arg388=) n.436C>A c.1228C>A (p.Arg410=) | |
| 8 | g.64604754C>A | CA461118252 | CYP7B1 | c.1161G>T (p.Val387=) n.435G>T c.1227G>T (p.Val409=) | |
| 8 | g.64604754C>G | CA461118253 | CYP7B1 | c.1161G>C (p.Val387=) n.435G>C c.1227G>C (p.Val409=) | |
| 8 | g.64604754C>T | CA461118254 | CYP7B1 | c.1161G>A (p.Val387=) n.435G>A c.1227G>A (p.Val409=) | |
| 8 | g.64604755A= | CA1789659702 | CYP7B1 | c.1160T= (p.Val387=) n.434T= c.1226T= (p.Val409=) | |
| 8 | g.64604755A>C | CA371334138 | CYP7B1 | c.1160T>G (p.Val387Gly) n.434T>G c.1226T>G (p.Val409Gly) | |
| 8 | g.64604755A>G | CA371334139 | CYP7B1 | c.1160T>C (p.Val387Ala) n.434T>C c.1226T>C (p.Val409Ala) | ClinVar dbSNP |
| 8 | g.64604755A>T | CA371334140 | CYP7B1 | c.1160T>A (p.Val387Glu) n.434T>A c.1226T>A (p.Val409Glu) | |
| 8 | g.64604756C>A | CA371334143 | CYP7B1 | c.1159G>T (p.Val387Leu) n.433G>T c.1225G>T (p.Val409Leu) | |
| 8 | g.64604756C>G | CA371334142 | CYP7B1 | c.1159G>C (p.Val387Leu) n.433G>C c.1225G>C (p.Val409Leu) | |
| 8 | g.64604756C>T | CA371334141 | CYP7B1 | c.1159G>A (p.Val387Met) n.433G>A c.1225G>A (p.Val409Met) | gnomAD v4 |
| 8 | g.64604757A>C | CA371334145 | CYP7B1 | c.1158T>G (p.Cys386Trp) n.432T>G c.1224T>G (p.Cys408Trp) | |
| 8 | g.64604757A>G | CA461118255 | CYP7B1 | c.1158T>C (p.Cys386=) n.432T>C c.1224T>C (p.Cys408=) | |
| 8 | g.64604757A>T | CA371334144 | CYP7B1 | c.1158T>A (p.Cys386Ter) n.432T>A c.1224T>A (p.Cys408Ter) | |
| 8 | g.64604758C>A | CA4764041 | CYP7B1 | c.1157G>T (p.Cys386Phe) n.431G>T c.1223G>T (p.Cys408Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604758C= | CA1789659703 | CYP7B1 | c.1157G= (p.Cys386=) n.431G= c.1223G= (p.Cys408=) | |
| 8 | g.64604758C>G | CA4764040 | CYP7B1 | c.1157G>C (p.Cys386Ser) n.431G>C c.1223G>C (p.Cys408Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604758C>T | CA371334146 | CYP7B1 | c.1157G>A (p.Cys386Tyr) n.431G>A c.1223G>A (p.Cys408Tyr) | |
| 8 | g.64604759A= | CA1789659704 | CYP7B1 | c.1156T= (p.Cys386=) n.430T= c.1222T= (p.Cys408=) | |
| 8 | g.64604759A>C | CA371334147 | CYP7B1 | c.1156T>G (p.Cys386Gly) n.430T>G c.1222T>G (p.Cys408Gly) | dbSNP gnomAD v4 |
| 8 | g.64604759A>G | CA371334148 | CYP7B1 | c.1156T>C (p.Cys386Arg) n.430T>C c.1222T>C (p.Cys408Arg) | |
| 8 | g.64604759A>T | CA371334149 | CYP7B1 | c.1156T>A (p.Cys386Ser) n.430T>A c.1222T>A (p.Cys408Ser) | |
| 8 | g.64604760G>A | CA461118256 | CYP7B1 | c.1155C>T (p.Tyr385=) n.429C>T c.1221C>T (p.Tyr407=) | |
| 8 | g.64604760G>C | CA371334150 | CYP7B1 | c.1155C>G (p.Tyr385Ter) n.429C>G c.1221C>G (p.Tyr407Ter) | |
| 8 | g.64604760G>T | CA371334151 | CYP7B1 | c.1155C>A (p.Tyr385Ter) n.429C>A c.1221C>A (p.Tyr407Ter) | gnomAD v4 |
| 8 | g.64604761T>A | CA371334152 | CYP7B1 | c.1154A>T (p.Tyr385Phe) n.428A>T c.1220A>T (p.Tyr407Phe) | |
| 8 | g.64604761T>C | CA371334153 | CYP7B1 | c.1154A>G (p.Tyr385Cys) n.428A>G c.1220A>G (p.Tyr407Cys) | dbSNP |
| 8 | g.64604761T>G | CA371334154 | CYP7B1 | c.1154A>C (p.Tyr385Ser) n.428A>C c.1220A>C (p.Tyr407Ser) | |
| 8 | g.64604761T= | CA1789659706 | CYP7B1 | c.1154A= (p.Tyr385=) n.428A= c.1220A= (p.Tyr407=) | |
| 8 | g.64604761_64604783delinsTAGTCCCCGGTCTCTGAACTGAG | CA1789659705 | CYP7B1 | c.1132_1154delinsCTCAGTTCAGAGACCGGGGACTA (p.Leu378=) n.406_428delinsCTCAGTTCAGAGACCGGGGACTA c.1198_1220delinsCTCAGTTCAGAGACCGGGGACTA (p.Leu400=) | |
| 8 | g.64604762A= | CA1789659707 | CYP7B1 | c.1153T= (p.Tyr385=) n.427T= c.1219T= (p.Tyr407=) | |
| 8 | g.64604762A>C | CA371334155 | CYP7B1 | c.1153T>G (p.Tyr385Asp) n.427T>G c.1219T>G (p.Tyr407Asp) | |
| 8 | g.64604762A>G | CA371334156 | CYP7B1 | c.1153T>C (p.Tyr385His) n.427T>C c.1219T>C (p.Tyr407His) | ClinVar dbSNP |
| 8 | g.64604762A>T | CA371334157 | CYP7B1 | c.1153T>A (p.Tyr385Asn) n.427T>A c.1219T>A (p.Tyr407Asn) | |
| 8 | g.64604766_64604787del | CA854264708 | CYP7B1 | c.1132_1153del (p.Leu378ThrfsTer9) n.406_427del c.1198_1219del (p.Leu400ThrfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64604763G>A | CA461118258 | CYP7B1 | c.1152C>T (p.Asp384=) n.426C>T c.1218C>T (p.Asp406=) | |
| 8 | g.64604763G>C | CA371334158 | CYP7B1 | c.1152C>G (p.Asp384Glu) n.426C>G c.1218C>G (p.Asp406Glu) | |
| 8 | g.64604763G>T | CA371334159 | CYP7B1 | c.1152C>A (p.Asp384Glu) n.426C>A c.1218C>A (p.Asp406Glu) | |
| 8 | g.64604764T>A | CA371334160 | CYP7B1 | c.1151A>T (p.Asp384Val) n.425A>T c.1217A>T (p.Asp406Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604764T>C | CA371334161 | CYP7B1 | c.1151A>G (p.Asp384Gly) n.425A>G c.1217A>G (p.Asp406Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64604764T>G | CA371334162 | CYP7B1 | c.1151A>C (p.Asp384Ala) n.425A>C c.1217A>C (p.Asp406Ala) | |
| 8 | g.64604764T= | CA1789659708 | CYP7B1 | c.1151A= (p.Asp384=) n.425A= c.1217A= (p.Asp406=) | |
| 8 | g.64604765C>A | CA371334163 | CYP7B1 | c.1150G>T (p.Asp384Tyr) n.424G>T c.1216G>T (p.Asp406Tyr) | |
| 8 | g.64604765C>G | CA371334164 | CYP7B1 | c.1150G>C (p.Asp384His) n.424G>C c.1216G>C (p.Asp406His) | |
| 8 | g.64604765C>T | CA371334165 | CYP7B1 | c.1150G>A (p.Asp384Asn) n.424G>A c.1216G>A (p.Asp406Asn) | COSMIC |
| 8 | g.64604768del | CA2499219387 | CYP7B1 | c.1150del (p.Asp384ThrfsTer10) n.424del c.1216del (p.Asp406ThrfsTer10) | ClinVar dbSNP |
| 8 | g.64604766C>A | CA461118259 | CYP7B1 | c.1149G>T (p.Gly383=) n.423G>T c.1215G>T (p.Gly405=) | |
| 8 | g.64604766C>G | CA461118260 | CYP7B1 | c.1149G>C (p.Gly383=) n.423G>C c.1215G>C (p.Gly405=) | |
| 8 | g.64604766C>T | CA461118261 | CYP7B1 | c.1149G>A (p.Gly383=) n.423G>A c.1215G>A (p.Gly405=) | COSMIC |
| 8 | g.64604767C>A | CA371334166 | CYP7B1 | c.1148G>T (p.Gly383Val) n.422G>T c.1214G>T (p.Gly405Val) | |
| 8 | g.64604767C>G | CA371334167 | CYP7B1 | c.1148G>C (p.Gly383Ala) n.422G>C c.1214G>C (p.Gly405Ala) | |
| 8 | g.64604767C>T | CA371334168 | CYP7B1 | c.1148G>A (p.Gly383Glu) n.422G>A c.1214G>A (p.Gly405Glu) | gnomAD v4 |
| 8 | g.64604768C>A | CA371334169 | CYP7B1 | c.1147G>T (p.Gly383Trp) n.421G>T c.1213G>T (p.Gly405Trp) | gnomAD v4 |
| 8 | g.64604768C= | CA1789659709 | CYP7B1 | c.1147G= (p.Gly383=) n.421G= c.1213G= (p.Gly405=) | |
| 8 | g.64604768C>G | CA371334170 | CYP7B1 | c.1147G>C (p.Gly383Arg) n.421G>C c.1213G>C (p.Gly405Arg) | |
| 8 | g.64604768C>T | CA4764042 | CYP7B1 | c.1147G>A (p.Gly383Arg) n.421G>A c.1213G>A (p.Gly405Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.64604769G>A | CA4764043 | CYP7B1 | c.1146C>T (p.Thr382=) n.420C>T c.1212C>T (p.Thr404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604769G>C | CA461118262 | CYP7B1 | c.1146C>G (p.Thr382=) n.420C>G c.1212C>G (p.Thr404=) | gnomAD v4 |
| 8 | g.64604769G= | CA1789659710 | CYP7B1 | c.1146C= (p.Thr382=) n.420C= c.1212C= (p.Thr404=) | |
| 8 | g.64604769G>T | CA461118263 | CYP7B1 | c.1146C>A (p.Thr382=) n.420C>A c.1212C>A (p.Thr404=) | gnomAD v4 |
| 8 | g.64604770G>A | CA371334173 | CYP7B1 | c.1145C>T (p.Thr382Ile) n.419C>T c.1211C>T (p.Thr404Ile) | gnomAD v4 COSMIC |
| 8 | g.64604770G>C | CA371334171 | CYP7B1 | c.1145C>G (p.Thr382Ser) n.419C>G c.1211C>G (p.Thr404Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64604770G= | CA1789659711 | CYP7B1 | c.1145C= (p.Thr382=) n.419C= c.1211C= (p.Thr404=) | |
| 8 | g.64604770G>T | CA371334172 | CYP7B1 | c.1145C>A (p.Thr382Asn) n.419C>A c.1211C>A (p.Thr404Asn) | |
| 8 | g.64604771T>A | CA371334174 | CYP7B1 | c.1144A>T (p.Thr382Ser) n.418A>T c.1210A>T (p.Thr404Ser) | |
| 8 | g.64604771T>C | CA371334175 | CYP7B1 | c.1144A>G (p.Thr382Ala) n.418A>G c.1210A>G (p.Thr404Ala) | |
| 8 | g.64604771T>G | CA371334176 | CYP7B1 | c.1144A>C (p.Thr382Pro) n.418A>C c.1210A>C (p.Thr404Pro) | |
| 8 | g.64604772C>A | CA371334177 | CYP7B1 | c.1143G>T (p.Glu381Asp) n.417G>T c.1209G>T (p.Glu403Asp) | |
| 8 | g.64604772C= | CA1789659712 | CYP7B1 | c.1143G= (p.Glu381=) n.417G= c.1209G= (p.Glu403=) | |
| 8 | g.64604772C>G | CA371334178 | CYP7B1 | c.1143G>C (p.Glu381Asp) n.417G>C c.1209G>C (p.Glu403Asp) | |
| 8 | g.64604772C>T | CA461118264 | CYP7B1 | c.1143G>A (p.Glu381=) n.417G>A c.1209G>A (p.Glu403=) | dbSNP gnomAD v4 |
| 8 | g.64604773T>A | CA371334181 | CYP7B1 | c.1142A>T (p.Glu381Val) n.416A>T c.1208A>T (p.Glu403Val) | |
| 8 | g.64604773T>C | CA371334180 | CYP7B1 | c.1142A>G (p.Glu381Gly) n.416A>G c.1208A>G (p.Glu403Gly) | |
| 8 | g.64604773T>G | CA371334179 | CYP7B1 | c.1142A>C (p.Glu381Ala) n.416A>C c.1208A>C (p.Glu403Ala) | |
| 8 | g.64604774C>A | CA371334182 | CYP7B1 | c.1141G>T (p.Glu381Ter) n.415G>T c.1207G>T (p.Glu403Ter) | |
| 8 | g.64604774C>G | CA371334183 | CYP7B1 | c.1141G>C (p.Glu381Gln) n.415G>C c.1207G>C (p.Glu403Gln) | gnomAD v4 |
| 8 | g.64604774C>T | CA371334184 | CYP7B1 | c.1141G>A (p.Glu381Lys) n.415G>A c.1207G>A (p.Glu403Lys) | |
| 8 | g.64604775T>A | CA461118265 | CYP7B1 | c.1140A>T (p.Ser380=) n.414A>T c.1206A>T (p.Ser402=) | |
| 8 | g.64604775T>C | CA461118266 | CYP7B1 | c.1140A>G (p.Ser380=) n.414A>G c.1206A>G (p.Ser402=) | ClinVar dbSNP |
| 8 | g.64604775T>G | CA461118267 | CYP7B1 | c.1140A>C (p.Ser380=) n.414A>C c.1206A>C (p.Ser402=) | |
| 8 | g.64604775T= | CA1789659713 | CYP7B1 | c.1140A= (p.Ser380=) n.414A= c.1206A= (p.Ser402=) | |
| 8 | g.64604776G>A | CA371334185 | CYP7B1 | c.1139C>T (p.Ser380Leu) n.413C>T c.1205C>T (p.Ser402Leu) | COSMIC |
| 8 | g.64604776G>C | CA371334186 | CYP7B1 | c.1139C>G (p.Ser380Ter) n.413C>G c.1205C>G (p.Ser402Ter) | ClinVar dbSNP |
| 8 | g.64604776G>T | CA371334187 | CYP7B1 | c.1139C>A (p.Ser380Ter) n.413C>A c.1205C>A (p.Ser402Ter) | gnomAD v4 |
| 8 | g.64604777A= | CA1789659714 | CYP7B1 | c.1138T= (p.Ser380=) n.412T= c.1204T= (p.Ser402=) | |
| 8 | g.64604777A>C | CA371334190 | CYP7B1 | c.1138T>G (p.Ser380Ala) n.412T>G c.1204T>G (p.Ser402Ala) | |
| 8 | g.64604777A>G | CA371334188 | CYP7B1 | c.1138T>C (p.Ser380Pro) n.412T>C c.1204T>C (p.Ser402Pro) | dbSNP |
| 8 | g.64604777A>T | CA371334189 | CYP7B1 | c.1138T>A (p.Ser380Thr) n.412T>A c.1204T>A (p.Ser402Thr) | |
| 8 | g.64604778A= | CA1789659715 | CYP7B1 | c.1137T= (p.Ser379=) n.411T= c.1203T= (p.Ser401=) | |
| 8 | g.64604778A>C | CA371334191 | CYP7B1 | c.1137T>G (p.Ser379Arg) n.411T>G c.1203T>G (p.Ser401Arg) | |
| 8 | g.64604778A>G | CA461118268 | CYP7B1 | c.1137T>C (p.Ser379=) n.411T>C c.1203T>C (p.Ser401=) | |
| 8 | g.64604778A>T | CA371334192 | CYP7B1 | c.1137T>A (p.Ser379Arg) n.411T>A c.1203T>A (p.Ser401Arg) | |
| 8 | g.64604779C>A | CA371334193 | CYP7B1 | c.1136G>T (p.Ser379Ile) n.410G>T c.1202G>T (p.Ser401Ile) | |
| 8 | g.64604779C= | CA1789659716 | CYP7B1 | c.1136G= (p.Ser379=) n.410G= c.1202G= (p.Ser401=) | |
| 8 | g.64604779C>G | CA371334194 | CYP7B1 | c.1136G>C (p.Ser379Thr) n.410G>C c.1202G>C (p.Ser401Thr) | dbSNP gnomAD v4 |
| 8 | g.64604779C>T | CA371334195 | CYP7B1 | c.1136G>A (p.Ser379Asn) n.410G>A c.1202G>A (p.Ser401Asn) | gnomAD v4 |
| 8 | g.64604783_64604784insCCTGAG | CA4764044 | CYP7B1 | c.1136_1137insGCTCAG (p.Leu378_Ser379insArgLeu) n.410_411insGCTCAG c.1202_1203insGCTCAG (p.Leu400_Ser401insArgLeu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604780T>A | CA371334196 | CYP7B1 | c.1135A>T (p.Ser379Cys) n.409A>T c.1201A>T (p.Ser401Cys) | |
| 8 | g.64604780T>C | CA371334197 | CYP7B1 | c.1135A>G (p.Ser379Gly) n.409A>G c.1201A>G (p.Ser401Gly) | |
| 8 | g.64604780T>G | CA371334198 | CYP7B1 | c.1135A>C (p.Ser379Arg) n.409A>C c.1201A>C (p.Ser401Arg) | |
| 8 | g.64604781G>A | CA461118269 | CYP7B1 | c.1134C>T (p.Leu378=) n.408C>T c.1200C>T (p.Leu400=) | ClinVar |
| 8 | g.64604781G>C | CA461118271 | CYP7B1 | c.1134C>G (p.Leu378=) n.408C>G c.1200C>G (p.Leu400=) | |
| 8 | g.64604781G>T | CA461118270 | CYP7B1 | c.1134C>A (p.Leu378=) n.408C>A c.1200C>A (p.Leu400=) | |
| 8 | g.64604782A>C | CA371334199 | CYP7B1 | c.1133T>G (p.Leu378Arg) n.407T>G c.1199T>G (p.Leu400Arg) | |
| 8 | g.64604782A>G | CA371334200 | CYP7B1 | c.1133T>C (p.Leu378Pro) n.407T>C c.1199T>C (p.Leu400Pro) | |
| 8 | g.64604782A>T | CA371334201 | CYP7B1 | c.1133T>A (p.Leu378His) n.407T>A c.1199T>A (p.Leu400His) | |
| 8 | g.64604783G>A | CA371334202 | CYP7B1 | c.1132C>T (p.Leu378Phe) n.406C>T c.1198C>T (p.Leu400Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64604783G>C | CA4764045 | CYP7B1 | c.1132C>G (p.Leu378Val) n.406C>G c.1198C>G (p.Leu400Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604783G= | CA1789659717 | CYP7B1 | c.1132C= (p.Leu378=) n.406C= c.1198C= (p.Leu400=) | |
| 8 | g.64604783G>T | CA371334203 | CYP7B1 | c.1132C>A (p.Leu378Ile) n.406C>A c.1198C>A (p.Leu400Ile) | |
| 8 | g.64604784A>C | CA461118272 | CYP7B1 | c.1131T>G (p.Thr377=) n.405T>G c.1197T>G (p.Thr399=) | |
| 8 | g.64604784A>G | CA461118273 | CYP7B1 | c.1131T>C (p.Thr377=) n.405T>C c.1197T>C (p.Thr399=) | gnomAD v4 |
| 8 | g.64604784A>T | CA461118274 | CYP7B1 | c.1131T>A (p.Thr377=) n.405T>A c.1197T>A (p.Thr399=) | |
| 8 | g.64604785G>A | CA371334204 | CYP7B1 | c.1130C>T (p.Thr377Ile) n.404C>T c.1196C>T (p.Thr399Ile) | dbSNP gnomAD v4 |
| 8 | g.64604785G>C | CA371334205 | CYP7B1 | c.1130C>G (p.Thr377Ser) n.404C>G c.1196C>G (p.Thr399Ser) | |
| 8 | g.64604785G= | CA1789659718 | CYP7B1 | c.1130C= (p.Thr377=) n.404C= c.1196C= (p.Thr399=) | |
| 8 | g.64604785G>T | CA371334206 | CYP7B1 | c.1130C>A (p.Thr377Asn) n.404C>A c.1196C>A (p.Thr399Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64604786T>A | CA371334207 | CYP7B1 | c.1129A>T (p.Thr377Ser) n.403A>T c.1195A>T (p.Thr399Ser) | |
| 8 | g.64604786T>C | CA371334208 | CYP7B1 | c.1129A>G (p.Thr377Ala) n.403A>G c.1195A>G (p.Thr399Ala) | gnomAD v4 |
| 8 | g.64604786T>G | CA371334209 | CYP7B1 | c.1129A>C (p.Thr377Pro) n.403A>C c.1195A>C (p.Thr399Pro) | |
| 8 | g.64604787C>A | CA371334210 | CYP7B1 | c.1128G>T (p.Leu376Phe) n.402G>T c.1194G>T (p.Leu398Phe) | |
| 8 | g.64604787C>G | CA371334211 | CYP7B1 | c.1128G>C (p.Leu376Phe) n.402G>C c.1194G>C (p.Leu398Phe) | |
| 8 | g.64604787C>T | CA461118275 | CYP7B1 | c.1128G>A (p.Leu376=) n.402G>A c.1194G>A (p.Leu398=) | |
| 8 | g.64604788A>C | CA371334212 | CYP7B1 | c.1127T>G (p.Leu376Trp) n.401T>G c.1193T>G (p.Leu398Trp) | |
| 8 | g.64604788A>G | CA371334214 | CYP7B1 | c.1127T>C (p.Leu376Ser) n.401T>C c.1193T>C (p.Leu398Ser) | |
| 8 | g.64604788A>T | CA371334213 | CYP7B1 | c.1127T>A (p.Leu376Ter) n.401T>A c.1193T>A (p.Leu398Ter) | |
| 8 | g.64604789A>C | CA371334215 | CYP7B1 | c.1126T>G (p.Leu376Val) n.400T>G c.1192T>G (p.Leu398Val) | |
| 8 | g.64604789A>G | CA461118276 | CYP7B1 | c.1126T>C (p.Leu376=) n.400T>C c.1192T>C (p.Leu398=) | |
| 8 | g.64604789A>T | CA371334216 | CYP7B1 | c.1126T>A (p.Leu376Met) n.400T>A c.1192T>A (p.Leu398Met) | |
| 8 | g.64604790A= | CA1789659720 | CYP7B1 | c.1125T= (p.Asp375=) n.399T= c.1191T= (p.Asp397=) | |
| 8 | g.64604790A>C | CA371334217 | CYP7B1 | c.1125T>G (p.Asp375Glu) n.399T>G c.1191T>G (p.Asp397Glu) | dbSNP gnomAD v4 |
| 8 | g.64604790A>G | CA461118277 | CYP7B1 | c.1125T>C (p.Asp375=) n.399T>C c.1191T>C (p.Asp397=) | |
| 8 | g.64604790A>T | CA371334218 | CYP7B1 | c.1125T>A (p.Asp375Glu) n.399T>A c.1191T>A (p.Asp397Glu) | |
| 8 | g.64604790_64604793delinsATCC | CA1789659719 | CYP7B1 | c.1122_1125delinsGGAT (p.Glu374=) n.396_399delinsGGAT c.1188_1191delinsGGAT (p.Glu396=) | |
| 8 | g.64604791T>A | CA371334219 | CYP7B1 | c.1124A>T (p.Asp375Val) n.398A>T c.1190A>T (p.Asp397Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64604791T>C | CA371334221 | CYP7B1 | c.1124A>G (p.Asp375Gly) n.398A>G c.1190A>G (p.Asp397Gly) | |
| 8 | g.64604791T>G | CA371334220 | CYP7B1 | c.1124A>C (p.Asp375Ala) n.398A>C c.1190A>C (p.Asp397Ala) | |
| 8 | g.64604791T= | CA1789659721 | CYP7B1 | c.1124A= (p.Asp375=) n.398A= c.1190A= (p.Asp397=) | |
| 8 | g.64604796_64604798del | CA4764046 | CYP7B1 | c.1122_1124del (p.Glu374del) n.396_398del c.1188_1190del (p.Glu396del) | dbSNP ExAC |
| 8 | g.64604792C>A | CA371334222 | CYP7B1 | c.1123G>T (p.Asp375Tyr) n.397G>T c.1189G>T (p.Asp397Tyr) | |
| 8 | g.64604792C>G | CA371334223 | CYP7B1 | c.1123G>C (p.Asp375His) n.397G>C c.1189G>C (p.Asp397His) | |
| 8 | g.64604792C>T | CA371334224 | CYP7B1 | c.1123G>A (p.Asp375Asn) n.397G>A c.1189G>A (p.Asp397Asn) | COSMIC |
| 8 | g.64604793C>A | CA371334225 | CYP7B1 | c.1122G>T (p.Glu374Asp) n.396G>T c.1188G>T (p.Glu396Asp) | |
| 8 | g.64604793C>G | CA371334226 | CYP7B1 | c.1122G>C (p.Glu374Asp) n.396G>C c.1188G>C (p.Glu396Asp) | |
| 8 | g.64604793C>T | CA461118279 | CYP7B1 | c.1122G>A (p.Glu374=) n.396G>A c.1188G>A (p.Glu396=) | |
| 8 | g.64604794T>A | CA371334227 | CYP7B1 | c.1121A>T (p.Glu374Val) n.395A>T c.1187A>T (p.Glu396Val) | |
| 8 | g.64604794T>C | CA371334228 | CYP7B1 | c.1121A>G (p.Glu374Gly) n.395A>G c.1187A>G (p.Glu396Gly) | gnomAD v4 |
| 8 | g.64604794T>G | CA371334229 | CYP7B1 | c.1121A>C (p.Glu374Ala) n.395A>C c.1187A>C (p.Glu396Ala) | |
| 8 | g.64604795C>A | CA371334230 | CYP7B1 | c.1120G>T (p.Glu374Ter) n.394G>T c.1186G>T (p.Glu396Ter) | |
| 8 | g.64604795C>G | CA371334231 | CYP7B1 | c.1120G>C (p.Glu374Gln) n.394G>C c.1186G>C (p.Glu396Gln) | |
| 8 | g.64604795C>T | CA371334232 | CYP7B1 | c.1120G>A (p.Glu374Lys) n.394G>A c.1186G>A (p.Glu396Lys) | |
| 8 | g.64604795_64604797delinsCCT | CA1789659722 | CYP7B1 | c.1118_1120delinsAGG (p.Glu373=) n.392_394delinsAGG c.1184_1186delinsAGG (p.Glu395=) | |
| 8 | g.64604796C>A | CA371334233 | CYP7B1 | c.1119G>T (p.Glu373Asp) n.393G>T c.1185G>T (p.Glu395Asp) | |
| 8 | g.64604796C>G | CA371334234 | CYP7B1 | c.1119G>C (p.Glu373Asp) n.393G>C c.1185G>C (p.Glu395Asp) | |
| 8 | g.64604796C>T | CA461118280 | CYP7B1 | c.1119G>A (p.Glu373=) n.393G>A c.1185G>A (p.Glu395=) | |
| 8 | g.64604797_64604798del | CA4764047 | CYP7B1 | c.1118_1119del (p.Glu373GlyfsTer30) n.392_393del c.1184_1185del (p.Glu395GlyfsTer30) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64604797T>A | CA371334235 | CYP7B1 | c.1118A>T (p.Glu373Val) n.392A>T c.1184A>T (p.Glu395Val) | |
| 8 | g.64604797T>C | CA371334236 | CYP7B1 | c.1118A>G (p.Glu373Gly) n.392A>G c.1184A>G (p.Glu395Gly) | dbSNP |
| 8 | g.64604797T>G | CA371334237 | CYP7B1 | c.1118A>C (p.Glu373Ala) n.392A>C c.1184A>C (p.Glu395Ala) | |
| 8 | g.64604797T= | CA1789659723 | CYP7B1 | c.1118A= (p.Glu373=) n.392A= c.1184A= (p.Glu395=) | |
| 8 | g.64604798C>A | CA371334238 | CYP7B1 | c.1117G>T (p.Glu373Ter) n.391G>T c.1183G>T (p.Glu395Ter) | |
| 8 | g.64604798C= | CA1789659724 | CYP7B1 | c.1117G= (p.Glu373=) n.391G= c.1183G= (p.Glu395=) | |
| 8 | g.64604798C>G | CA371334239 | CYP7B1 | c.1117G>C (p.Glu373Gln) n.391G>C c.1183G>C (p.Glu395Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604798C>T | CA371334240 | CYP7B1 | c.1117G>A (p.Glu373Lys) n.391G>A c.1183G>A (p.Glu395Lys) | gnomAD v4 |
| 8 | g.64604799A>C | CA461118281 | CYP7B1 | c.1116T>G (p.Val372=) n.390T>G c.1182T>G (p.Val394=) | gnomAD v4 |
| 8 | g.64604799A>G | CA461118283 | CYP7B1 | c.1116T>C (p.Val372=) n.390T>C c.1182T>C (p.Val394=) | |
| 8 | g.64604799A>T | CA461118284 | CYP7B1 | c.1116T>A (p.Val372=) n.390T>A c.1182T>A (p.Val394=) | |
| 8 | g.64604800A>C | CA371334241 | CYP7B1 | c.1115T>G (p.Val372Gly) n.389T>G c.1181T>G (p.Val394Gly) | |
| 8 | g.64604800A>G | CA371334242 | CYP7B1 | c.1115T>C (p.Val372Ala) n.389T>C c.1181T>C (p.Val394Ala) | |
| 8 | g.64604800A>T | CA371334243 | CYP7B1 | c.1115T>A (p.Val372Asp) n.389T>A c.1181T>A (p.Val394Asp) | |
| 8 | g.64604801C>A | CA371334244 | CYP7B1 | c.1114G>T (p.Val372Phe) n.388G>T c.1180G>T (p.Val394Phe) | |
| 8 | g.64604801C= | CA1789659725 | CYP7B1 | c.1114G= (p.Val372=) n.388G= c.1180G= (p.Val394=) | |
| 8 | g.64604801C>G | CA371334245 | CYP7B1 | c.1114G>C (p.Val372Leu) n.388G>C c.1180G>C (p.Val394Leu) | |
| 8 | g.64604801C>T | CA371334246 | CYP7B1 | c.1114G>A (p.Val372Ile) n.388G>A c.1180G>A (p.Val394Ile) | dbSNP gnomAD v4 |
| 8 | g.64604802A>C | CA371334248 | CYP7B1 | c.1113T>G (p.Phe371Leu) n.387T>G c.1179T>G (p.Phe393Leu) | |
| 8 | g.64604802A>G | CA461118285 | CYP7B1 | c.1113T>C (p.Phe371=) n.387T>C c.1179T>C (p.Phe393=) | |
| 8 | g.64604802A>T | CA371334247 | CYP7B1 | c.1113T>A (p.Phe371Leu) n.387T>A c.1179T>A (p.Phe393Leu) | |
| 8 | g.64604803A>C | CA371334249 | CYP7B1 | c.1112T>G (p.Phe371Cys) n.386T>G c.1178T>G (p.Phe393Cys) | |
| 8 | g.64604803A>G | CA371334250 | CYP7B1 | c.1112T>C (p.Phe371Ser) n.386T>C c.1178T>C (p.Phe393Ser) | |
| 8 | g.64604803A>T | CA371334251 | CYP7B1 | c.1112T>A (p.Phe371Tyr) n.386T>A c.1178T>A (p.Phe393Tyr) | |
| 8 | g.64604804A>C | CA371334252 | CYP7B1 | c.1111T>G (p.Phe371Val) n.385T>G c.1177T>G (p.Phe393Val) | |
| 8 | g.64604804A>G | CA371334253 | CYP7B1 | c.1111T>C (p.Phe371Leu) n.385T>C c.1177T>C (p.Phe393Leu) | |
| 8 | g.64604804A>T | CA371334254 | CYP7B1 | c.1111T>A (p.Phe371Ile) n.385T>A c.1177T>A (p.Phe393Ile) | |
| 8 | g.64604805A>C | CA461118286 | CYP7B1 | c.1110T>G (p.Arg370=) n.384T>G c.1176T>G (p.Arg392=) | |
| 8 | g.64604805A>G | CA461118287 | CYP7B1 | c.1110T>C (p.Arg370=) n.384T>C c.1176T>C (p.Arg392=) | gnomAD v4 |
| 8 | g.64604805A>T | CA461118288 | CYP7B1 | c.1110T>A (p.Arg370=) n.384T>A c.1176T>A (p.Arg392=) | |
| 8 | g.64604806C>A | CA371334255 | CYP7B1 | c.1109G>T (p.Arg370Leu) n.383G>T c.1175G>T (p.Arg392Leu) | |
| 8 | g.64604806C= | CA1789659726 | CYP7B1 | c.1109G= (p.Arg370=) n.383G= c.1175G= (p.Arg392=) | |
| 8 | g.64604806C>G | CA371334256 | CYP7B1 | c.1109G>C (p.Arg370Pro) n.383G>C c.1175G>C (p.Arg392Pro) | |
| 8 | g.64604806C>T | CA371334257 | CYP7B1 | c.1109G>A (p.Arg370His) n.383G>A c.1175G>A (p.Arg392His) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64604807G>A | CA178386086 | CYP7B1 | c.1108C>T (p.Arg370Cys) n.382C>T c.1174C>T (p.Arg392Cys) | dbSNP gnomAD v4 |
| 8 | g.64604807G>C | CA371334258 | CYP7B1 | c.1108C>G (p.Arg370Gly) n.382C>G c.1174C>G (p.Arg392Gly) | |
| 8 | g.64604807G= | CA1789659727 | CYP7B1 | c.1108C= (p.Arg370=) n.382C= c.1174C= (p.Arg392=) | |
| 8 | g.64604807G>T | CA371334259 | CYP7B1 | c.1108C>A (p.Arg370Ser) n.382C>A c.1174C>A (p.Arg392Ser) | |
| 8 | g.64604808A>C | CA371334260 | CYP7B1 | c.1107T>G (p.Ile369Met) n.381T>G c.1173T>G (p.Ile391Met) | |
| 8 | g.64604808A>G | CA461118289 | CYP7B1 | c.1107T>C (p.Ile369=) n.381T>C c.1173T>C (p.Ile391=) | |
| 8 | g.64604808A>T | CA461118290 | CYP7B1 | c.1107T>A (p.Ile369=) n.381T>A c.1173T>A (p.Ile391=) | |
| 8 | g.64604809A>C | CA371334262 | CYP7B1 | c.1106T>G (p.Ile369Ser) n.380T>G c.1172T>G (p.Ile391Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64604809A>G | CA371334263 | CYP7B1 | c.1106T>C (p.Ile369Thr) n.380T>C c.1172T>C (p.Ile391Thr) | gnomAD v4 |
| 8 | g.64604809A>T | CA371334261 | CYP7B1 | c.1106T>A (p.Ile369Asn) n.380T>A c.1172T>A (p.Ile391Asn) | |
| 8 | g.64604810T>A | CA371334264 | CYP7B1 | c.1105A>T (p.Ile369Phe) n.379A>T c.1171A>T (p.Ile391Phe) | |
| 8 | g.64604810T>C | CA4764048 | CYP7B1 | c.1105A>G (p.Ile369Val) n.379A>G c.1171A>G (p.Ile391Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64604810T>G | CA371334265 | CYP7B1 | c.1105A>C (p.Ile369Leu) n.379A>C c.1171A>C (p.Ile391Leu) | |
| 8 | g.64604810T= | CA1789659728 | CYP7B1 | c.1105A= (p.Ile369=) n.379A= c.1171A= (p.Ile391=) | |
| 8 | g.64604811G>A | CA461118292 | CYP7B1 | c.1104C>T (p.Thr368=) n.378C>T c.1170C>T (p.Thr390=) | COSMIC |
| 8 | g.64604811G>C | CA461118293 | CYP7B1 | c.1104C>G (p.Thr368=) n.378C>G c.1170C>G (p.Thr390=) | ClinVar gnomAD v4 |
| 8 | g.64604811G>T | CA461118291 | CYP7B1 | c.1104C>A (p.Thr368=) n.378C>A c.1170C>A (p.Thr390=) | |
| 8 | g.64604812G>A | CA371334266 | CYP7B1 | c.1103C>T (p.Thr368Ile) n.377C>T c.1169C>T (p.Thr390Ile) | |
| 8 | g.64604812G>C | CA371334268 | CYP7B1 | c.1103C>G (p.Thr368Ser) n.377C>G c.1169C>G (p.Thr390Ser) | |
| 8 | g.64604812G= | CA1789659729 | CYP7B1 | c.1103C= (p.Thr368=) n.377C= c.1169C= (p.Thr390=) | |
| 8 | g.64604812G>T | CA371334267 | CYP7B1 | c.1103C>A (p.Thr368Asn) n.377C>A c.1169C>A (p.Thr390Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64604813T>A | CA371334269 | CYP7B1 | c.1102A>T (p.Thr368Ser) n.376A>T c.1168A>T (p.Thr390Ser) | |
| 8 | g.64604813T>C | CA371334271 | CYP7B1 | c.1102A>G (p.Thr368Ala) n.376A>G c.1168A>G (p.Thr390Ala) | |
| 8 | g.64604813T>G | CA371334270 | CYP7B1 | c.1102A>C (p.Thr368Pro) n.376A>C c.1168A>C (p.Thr390Pro) | |
| 8 | g.64604814G>A | CA461118294 | CYP7B1 | c.1101C>T (p.Thr367=) n.375C>T c.1167C>T (p.Thr389=) | |
| 8 | g.64604814G>C | CA461118295 | CYP7B1 | c.1101C>G (p.Thr367=) n.375C>G c.1167C>G (p.Thr389=) | |
| 8 | g.64604814G>T | CA461118296 | CYP7B1 | c.1101C>A (p.Thr367=) n.375C>A c.1167C>A (p.Thr389=) | |
| 8 | g.64604815G>A | CA178386092 | CYP7B1 | c.1100C>T (p.Thr367Ile) n.374C>T c.1166C>T (p.Thr389Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604815G>C | CA371334272 | CYP7B1 | c.1100C>G (p.Thr367Ser) n.374C>G c.1166C>G (p.Thr389Ser) | |
| 8 | g.64604815G= | CA1789659730 | CYP7B1 | c.1100C= (p.Thr367=) n.374C= c.1166C= (p.Thr389=) | |
| 8 | g.64604815G>T | CA371334273 | CYP7B1 | c.1100C>A (p.Thr367Asn) n.374C>A c.1166C>A (p.Thr389Asn) | |
| 8 | g.64604816T>A | CA371334274 | CYP7B1 | c.1099A>T (p.Thr367Ser) n.373A>T c.1165A>T (p.Thr389Ser) | |
| 8 | g.64604816T>C | CA371334275 | CYP7B1 | c.1099A>G (p.Thr367Ala) n.373A>G c.1165A>G (p.Thr389Ala) | dbSNP |
| 8 | g.64604816T>G | CA371334276 | CYP7B1 | c.1099A>C (p.Thr367Pro) n.373A>C c.1165A>C (p.Thr389Pro) | |
| 8 | g.64604816T= | CA1789659731 | CYP7B1 | c.1099A= (p.Thr367=) n.373A= c.1165A= (p.Thr389=) | |
| 8 | g.64604817T>A | CA461118298 | CYP7B1 | c.1098A>T (p.Ser366=) n.372A>T c.1164A>T (p.Ser388=) | |
| 8 | g.64604817T>C | CA461118299 | CYP7B1 | c.1098A>G (p.Ser366=) n.372A>G c.1164A>G (p.Ser388=) | |
| 8 | g.64604817T>G | CA461118300 | CYP7B1 | c.1098A>C (p.Ser366=) n.372A>C c.1164A>C (p.Ser388=) | |
| 8 | g.64604818G>A | CA371334277 | CYP7B1 | c.1097C>T (p.Ser366Leu) n.371C>T c.1163C>T (p.Ser388Leu) | |
| 8 | g.64604818G>C | CA371334278 | CYP7B1 | c.1097C>G (p.Ser366Ter) n.371C>G c.1163C>G (p.Ser388Ter) | |
| 8 | g.64604818G>T | CA371334279 | CYP7B1 | c.1097C>A (p.Ser366Ter) n.371C>A c.1163C>A (p.Ser388Ter) | |
| 8 | g.64604819A>C | CA371334280 | CYP7B1 | c.1096T>G (p.Ser366Ala) n.370T>G c.1162T>G (p.Ser388Ala) | |
| 8 | g.64604819A>G | CA371334281 | CYP7B1 | c.1096T>C (p.Ser366Pro) n.370T>C c.1162T>C (p.Ser388Pro) | |
| 8 | g.64604819A>T | CA371334282 | CYP7B1 | c.1096T>A (p.Ser366Thr) n.370T>A c.1162T>A (p.Ser388Thr) | |
| 8 | g.64604820A>C | CA371334284 | CYP7B1 | c.1095T>G (p.Tyr365Ter) n.369T>G c.1161T>G (p.Tyr387Ter) | ClinVar dbSNP |
| 8 | g.64604820A>G | CA461118302 | CYP7B1 | c.1095T>C (p.Tyr365=) n.369T>C c.1161T>C (p.Tyr387=) | |
| 8 | g.64604820A>T | CA371334283 | CYP7B1 | c.1095T>A (p.Tyr365Ter) n.369T>A c.1161T>A (p.Tyr387Ter) | |
| 8 | g.64604821T>A | CA371334285 | CYP7B1 | c.1094A>T (p.Tyr365Phe) n.368A>T c.1160A>T (p.Tyr387Phe) | |
| 8 | g.64604821T>C | CA371334286 | CYP7B1 | c.1094A>G (p.Tyr365Cys) n.368A>G c.1160A>G (p.Tyr387Cys) | dbSNP gnomAD v4 |
| 8 | g.64604821T>G | CA371334287 | CYP7B1 | c.1094A>C (p.Tyr365Ser) n.368A>C c.1160A>C (p.Tyr387Ser) | dbSNP gnomAD v4 |
| 8 | g.64604821T= | CA1789659732 | CYP7B1 | c.1094A= (p.Tyr365=) n.368A= c.1160A= (p.Tyr387=) | |
| 8 | g.64604822A>C | CA371334288 | CYP7B1 | c.1093T>G (p.Tyr365Asp) n.367T>G c.1159T>G (p.Tyr387Asp) | |
| 8 | g.64604822A>G | CA371334289 | CYP7B1 | c.1093T>C (p.Tyr365His) n.367T>C c.1159T>C (p.Tyr387His) | |
| 8 | g.64604822A>T | CA371334290 | CYP7B1 | c.1093T>A (p.Tyr365Asn) n.367T>A c.1159T>A (p.Tyr387Asn) | gnomAD v4 |
| 8 | g.64604823T>A | CA461118304 | CYP7B1 | c.1092A>T (p.Ser364=) n.366A>T c.1158A>T (p.Ser386=) | |
| 8 | g.64604823T>C | CA461118305 | CYP7B1 | c.1092A>G (p.Ser364=) n.366A>G c.1158A>G (p.Ser386=) | |
| 8 | g.64604823T>G | CA461118306 | CYP7B1 | c.1092A>C (p.Ser364=) n.366A>C c.1158A>C (p.Ser386=) | |
| 8 | g.64604824G>A | CA371334291 | CYP7B1 | c.1091C>T (p.Ser364Leu) n.365C>T c.1157C>T (p.Ser386Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64604824G>C | CA4764049 | CYP7B1 | c.1091C>G (p.Ser364Ter) n.365C>G c.1157C>G (p.Ser386Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604824G= | CA1789659733 | CYP7B1 | c.1091C= (p.Ser364=) n.365C= c.1157C= (p.Ser386=) | |
| 8 | g.64604824G>T | CA371334292 | CYP7B1 | c.1091C>A (p.Ser364Ter) n.365C>A c.1157C>A (p.Ser386Ter) | |
| 8 | g.64604825A>C | CA371334293 | CYP7B1 | c.1090T>G (p.Ser364Ala) n.364T>G c.1156T>G (p.Ser386Ala) | gnomAD v4 |
| 8 | g.64604825A>G | CA371334294 | CYP7B1 | c.1090T>C (p.Ser364Pro) n.364T>C c.1156T>C (p.Ser386Pro) | |
| 8 | g.64604825A>T | CA371334295 | CYP7B1 | c.1090T>A (p.Ser364Thr) n.364T>A c.1156T>A (p.Ser386Thr) | |
| 8 | g.64604826G>A | CA178386097 | CYP7B1 | c.1089C>T (p.Ser363=) n.363C>T c.1155C>T (p.Ser385=) | dbSNP |
| 8 | g.64604826G>C | CA461118307 | CYP7B1 | c.1089C>G (p.Ser363=) n.363C>G c.1155C>G (p.Ser385=) | |
| 8 | g.64604826G= | CA1789659734 | CYP7B1 | c.1089C= (p.Ser363=) n.363C= c.1155C= (p.Ser385=) | |
| 8 | g.64604826G>T | CA461118308 | CYP7B1 | c.1089C>A (p.Ser363=) n.363C>A c.1155C>A (p.Ser385=) | |
| 8 | g.64604827G>A | CA210940 | CYP7B1 | c.1088C>T (p.Ser363Phe) n.362C>T c.1154C>T (p.Ser385Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.64604827G>C | CA371334296 | CYP7B1 | c.1088C>G (p.Ser363Cys) n.362C>G c.1154C>G (p.Ser385Cys) | |
| 8 | g.64604827G= | CA1789659735 | CYP7B1 | c.1088C= (p.Ser363=) n.362C= c.1154C= (p.Ser385=) | |
| 8 | g.64604827G>T | CA371334297 | CYP7B1 | c.1088C>A (p.Ser363Tyr) n.362C>A c.1154C>A (p.Ser385Tyr) | |
| 8 | g.64604828A>C | CA371334298 | CYP7B1 | c.1087T>G (p.Ser363Ala) n.361T>G c.1153T>G (p.Ser385Ala) | |
| 8 | g.64604828A>G | CA371334299 | CYP7B1 | c.1087T>C (p.Ser363Pro) n.361T>C c.1153T>C (p.Ser385Pro) | |
| 8 | g.64604828A>T | CA371334300 | CYP7B1 | c.1087T>A (p.Ser363Thr) n.361T>A c.1153T>A (p.Ser385Thr) | |
| 8 | g.64604829C>A | CA461118309 | CYP7B1 | c.1086G>T (p.Leu362=) n.360G>T c.1152G>T (p.Leu384=) | |
| 8 | g.64604829C= | CA1789659736 | CYP7B1 | c.1086G= (p.Leu362=) n.360G= c.1152G= (p.Leu384=) | |
| 8 | g.64604829C>G | CA461118310 | CYP7B1 | c.1086G>C (p.Leu362=) n.360G>C c.1152G>C (p.Leu384=) | gnomAD v4 |
| 8 | g.64604829C>T | CA4764050 | CYP7B1 | c.1086G>A (p.Leu362=) n.360G>A c.1152G>A (p.Leu384=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604830A= | CA1789659737 | CYP7B1 | c.1085T= (p.Leu362=) n.359T= c.1151T= (p.Leu384=) | |
| 8 | g.64604830A>C | CA371334301 | CYP7B1 | c.1085T>G (p.Leu362Arg) n.359T>G c.1151T>G (p.Leu384Arg) | |
| 8 | g.64604830A>G | CA371334302 | CYP7B1 | c.1085T>C (p.Leu362Pro) n.359T>C c.1151T>C (p.Leu384Pro) | ClinVar dbSNP |
| 8 | g.64604830A>T | CA371334303 | CYP7B1 | c.1085T>A (p.Leu362Gln) n.359T>A c.1151T>A (p.Leu384Gln) | gnomAD v4 |
| 8 | g.64604831G>A | CA461118311 | CYP7B1 | c.1084C>T (p.Leu362=) n.358C>T c.1150C>T (p.Leu384=) | gnomAD v4 |
| 8 | g.64604831G>C | CA371334304 | CYP7B1 | c.1084C>G (p.Leu362Val) n.358C>G c.1150C>G (p.Leu384Val) | |
| 8 | g.64604831G>T | CA371334305 | CYP7B1 | c.1084C>A (p.Leu362Met) n.358C>A c.1150C>A (p.Leu384Met) | |
| 8 | g.64604832T>A | CA461118314 | CYP7B1 | c.1083A>T (p.Arg361=) n.357A>T c.1149A>T (p.Arg383=) | |
| 8 | g.64604832T>C | CA461118315 | CYP7B1 | c.1083A>G (p.Arg361=) n.357A>G c.1149A>G (p.Arg383=) | gnomAD v4 |
| 8 | g.64604832T>G | CA461118312 | CYP7B1 | c.1083A>C (p.Arg361=) n.357A>C c.1149A>C (p.Arg383=) | |
| 8 | g.64604833C>A | CA371334307 | CYP7B1 | c.1082G>T (p.Arg361Leu) n.356G>T c.1148G>T (p.Arg383Leu) | gnomAD v4 |
| 8 | g.64604833C= | CA1789659738 | CYP7B1 | c.1082G= (p.Arg361=) n.356G= c.1148G= (p.Arg383=) | |
| 8 | g.64604833C>G | CA371334306 | CYP7B1 | c.1082G>C (p.Arg361Pro) n.356G>C c.1148G>C (p.Arg383Pro) | |
| 8 | g.64604833C>T | CA4764051 | CYP7B1 | c.1082G>A (p.Arg361Gln) n.356G>A c.1148G>A (p.Arg383Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.64604834G>A | CA4764052 | CYP7B1 | c.1081C>T (p.Arg361Ter) n.355C>T c.1147C>T (p.Arg383Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604834G>C | CA371334308 | CYP7B1 | c.1081C>G (p.Arg361Gly) n.355C>G c.1147C>G (p.Arg383Gly) | |
| 8 | g.64604834G= | CA1789659739 | CYP7B1 | c.1081C= (p.Arg361=) n.355C= c.1147C= (p.Arg383=) | |
| 8 | g.64604834G>T | CA4764053 | CYP7B1 | c.1081C>A (p.Arg361=) n.355C>A c.1147C>A (p.Arg383=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604835T>A | CA371334309 | CYP7B1 | c.1080A>T (p.Leu360Phe) n.354A>T c.1146A>T (p.Leu382Phe) | gnomAD v4 |
| 8 | g.64604835T>C | CA461118317 | CYP7B1 | c.1080A>G (p.Leu360=) n.354A>G c.1146A>G (p.Leu382=) | ClinVar dbSNP |
| 8 | g.64604835T>G | CA371334310 | CYP7B1 | c.1080A>C (p.Leu360Phe) n.354A>C c.1146A>C (p.Leu382Phe) | |
| 8 | g.64604835_64604836delinsTA | CA1789659740 | CYP7B1 | c.1079_1080delinsTA (p.Leu360=) n.353_354delinsTA c.1145_1146delinsTA (p.Leu382=) | |
| 8 | g.64604836A= | CA1789659741 | CYP7B1 | c.1079T= (p.Leu360=) n.353T= c.1145T= (p.Leu382=) | |
| 8 | g.64604836A>C | CA371334311 | CYP7B1 | c.1079T>G (p.Leu360Ter) n.353T>G c.1145T>G (p.Leu382Ter) | |
| 8 | g.64604836A>G | CA371334312 | CYP7B1 | c.1079T>C (p.Leu360Ser) n.353T>C c.1145T>C (p.Leu382Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604836A>T | CA371334313 | CYP7B1 | c.1079T>A (p.Leu360Ter) n.353T>A c.1145T>A (p.Leu382Ter) | |
| 8 | g.64604838del | CA4764054 | CYP7B1 | c.1079del (p.Leu360TyrfsTer17) n.353del c.1145del (p.Leu382TyrfsTer17) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604837A>C | CA371334314 | CYP7B1 | c.1078T>G (p.Leu360Val) n.352T>G c.1144T>G (p.Leu382Val) | |
| 8 | g.64604837A>G | CA461118318 | CYP7B1 | c.1078T>C (p.Leu360=) n.352T>C c.1144T>C (p.Leu382=) | |
| 8 | g.64604837A>T | CA371334315 | CYP7B1 | c.1078T>A (p.Leu360Ile) n.352T>A c.1144T>A (p.Leu382Ile) | |
| 8 | g.64604838A= | CA1789659742 | CYP7B1 | c.1077T= (p.Ala359=) n.351T= c.1143T= (p.Ala381=) | |
| 8 | g.64604838A>C | CA4764055 | CYP7B1 | c.1077T>G (p.Ala359=) n.351T>G c.1143T>G (p.Ala381=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64604838A>G | CA461118319 | CYP7B1 | c.1077T>C (p.Ala359=) n.351T>C c.1143T>C (p.Ala381=) | gnomAD v4 |
| 8 | g.64604838A>T | CA461118320 | CYP7B1 | c.1077T>A (p.Ala359=) n.351T>A c.1143T>A (p.Ala381=) | |
| 8 | g.64604838_64604839delinsAG | CA1789659743 | CYP7B1 | c.1076_1077delinsCT (p.Ala359=) n.350_351delinsCT c.1142_1143delinsCT (p.Ala381=) | |
| 8 | g.64604839del | CA1789659744 | CYP7B1 | c.1076del (p.Ala359ValfsTer18) n.350del c.1142del (p.Ala381ValfsTer18) | dbSNP |
| 8 | g.64604839G>A | CA371334318 | CYP7B1 | c.1076C>T (p.Ala359Val) n.350C>T c.1142C>T (p.Ala381Val) | dbSNP |
| 8 | g.64604839G>C | CA371334317 | CYP7B1 | c.1076C>G (p.Ala359Gly) n.350C>G c.1142C>G (p.Ala381Gly) | gnomAD v4 |
| 8 | g.64604839G= | CA1789659745 | CYP7B1 | c.1076C= (p.Ala359=) n.350C= c.1142C= (p.Ala381=) | |
| 8 | g.64604839G>T | CA371334316 | CYP7B1 | c.1076C>A (p.Ala359Asp) n.350C>A c.1142C>A (p.Ala381Asp) | dbSNP |