| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233768232C>A | CA351073739 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1088C>A (p.Thr363Asn) c.1100C>A (p.Thr367Asn) c.1094C>A (p.Thr365Asn) c.1097C>A (p.Thr366Asn) c.293C>A (p.Thr98Asn) | dbSNP |
| 2 | g.233768232C= | CA1335895237 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1088C= (p.Thr363=) c.1100C= (p.Thr367=) c.1094C= (p.Thr365=) c.1097C= (p.Thr366=) c.293C= (p.Thr98=) | |
| 2 | g.233768232C>G | CA351073746 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1088C>G (p.Thr363Ser) c.1100C>G (p.Thr367Ser) c.1094C>G (p.Thr365Ser) c.1097C>G (p.Thr366Ser) c.293C>G (p.Thr98Ser) | |
| 2 | g.233768232C>T | CA351073748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1088C>T (p.Thr363Ile) c.1100C>T (p.Thr367Ile) c.1094C>T (p.Thr365Ile) c.1097C>T (p.Thr366Ile) c.293C>T (p.Thr98Ile) | |
| 2 | g.233768233C>A | CA431858164 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1089C>A (p.Thr363=) c.1101C>A (p.Thr367=) c.1095C>A (p.Thr365=) c.1098C>A (p.Thr366=) c.294C>A (p.Thr98=) | dbSNP gnomAD v4 |
| 2 | g.233768233C= | CA1335895238 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1089C= (p.Thr363=) c.1101C= (p.Thr367=) c.1095C= (p.Thr365=) c.1098C= (p.Thr366=) c.294C= (p.Thr98=) | |
| 2 | g.233768233C>G | CA431858156 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1089C>G (p.Thr363=) c.1101C>G (p.Thr367=) c.1095C>G (p.Thr365=) c.1098C>G (p.Thr366=) c.294C>G (p.Thr98=) | |
| 2 | g.233768233C>T | CA431858155 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1089C>T (p.Thr363=) c.1101C>T (p.Thr367=) c.1095C>T (p.Thr365=) c.1098C>T (p.Thr366=) c.294C>T (p.Thr98=) | |
| 2 | g.233768234C>A | CA351073751 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090C>A (p.Arg364Ser) c.1102C>A (p.Arg368Ser) c.1096C>A (p.Arg366Ser) c.1099C>A (p.Arg367Ser) c.295C>A (p.Arg99Ser) | |
| 2 | g.233768234C= | CA1335895239 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090C= (p.Arg364=) c.1102C= (p.Arg368=) c.1096C= (p.Arg366=) c.1099C= (p.Arg367=) c.295C= (p.Arg99=) | |
| 2 | g.233768234C>G | CA67596167 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090C>G (p.Arg364Gly) c.1102C>G (p.Arg368Gly) c.1096C>G (p.Arg366Gly) c.1099C>G (p.Arg367Gly) c.295C>G (p.Arg99Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768234C>T | CA2180010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090C>T (p.Arg364Cys) c.1102C>T (p.Arg368Cys) c.1096C>T (p.Arg366Cys) c.1099C>T (p.Arg367Cys) c.295C>T (p.Arg99Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768235G>A | CA2180011 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1091G>A (p.Arg364His) c.1103G>A (p.Arg368His) c.1097G>A (p.Arg366His) c.1100G>A (p.Arg367His) c.296G>A (p.Arg99His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233768235G>C | CA351073763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1091G>C (p.Arg364Pro) c.1103G>C (p.Arg368Pro) c.1097G>C (p.Arg366Pro) c.1100G>C (p.Arg367Pro) c.296G>C (p.Arg99Pro) | dbSNP gnomAD v4 |
| 2 | g.233768235G= | CA1335895240 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1091G= (p.Arg364=) c.1103G= (p.Arg368=) c.1097G= (p.Arg366=) c.1100G= (p.Arg367=) c.296G= (p.Arg99=) | |
| 2 | g.233768235G>T | CA2180012 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1091G>T (p.Arg364Leu) c.1103G>T (p.Arg368Leu) c.1097G>T (p.Arg366Leu) c.1100G>T (p.Arg367Leu) c.296G>T (p.Arg99Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768236T>A | CA431858193 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1092T>A (p.Arg364=) c.1104T>A (p.Arg368=) c.1098T>A (p.Arg366=) c.1101T>A (p.Arg367=) c.297T>A (p.Arg99=) | dbSNP |
| 2 | g.233768236T>C | CA431858190 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1092T>C (p.Arg364=) c.1104T>C (p.Arg368=) c.1098T>C (p.Arg366=) c.1101T>C (p.Arg367=) c.297T>C (p.Arg99=) | |
| 2 | g.233768236T>G | CA431858197 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1092T>G (p.Arg364=) c.1104T>G (p.Arg368=) c.1098T>G (p.Arg366=) c.1101T>G (p.Arg367=) c.297T>G (p.Arg99=) | |
| 2 | g.233768236T= | CA1335895241 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1092T= (p.Arg364=) c.1104T= (p.Arg368=) c.1098T= (p.Arg366=) c.1101T= (p.Arg367=) c.297T= (p.Arg99=) | |
| 2 | g.233768237G>A | CA67596183 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1093G>A (p.Ala365Thr) c.1105G>A (p.Ala369Thr) c.1099G>A (p.Ala367Thr) c.1102G>A (p.Ala368Thr) c.298G>A (p.Ala100Thr) | dbSNP |
| 2 | g.233768237G>C | CA351073766 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1093G>C (p.Ala365Pro) c.1105G>C (p.Ala369Pro) c.1099G>C (p.Ala367Pro) c.1102G>C (p.Ala368Pro) c.298G>C (p.Ala100Pro) | |
| 2 | g.233768237G= | CA1335895242 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1093G= (p.Ala365=) c.1105G= (p.Ala369=) c.1099G= (p.Ala367=) c.1102G= (p.Ala368=) c.298G= (p.Ala100=) | |
| 2 | g.233768237G>T | CA351073769 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1093G>T (p.Ala365Ser) c.1105G>T (p.Ala369Ser) c.1099G>T (p.Ala367Ser) c.1102G>T (p.Ala368Ser) c.298G>T (p.Ala100Ser) | |
| 2 | g.233768238C>A | CA351073770 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1094C>A (p.Ala365Asp) c.1106C>A (p.Ala369Asp) c.1100C>A (p.Ala367Asp) c.1103C>A (p.Ala368Asp) c.299C>A (p.Ala100Asp) | |
| 2 | g.233768238C= | CA1335895243 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1094C= (p.Ala365=) c.1106C= (p.Ala369=) c.1100C= (p.Ala367=) c.1103C= (p.Ala368=) c.299C= (p.Ala100=) | |
| 2 | g.233768238C>G | CA351073771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1094C>G (p.Ala365Gly) c.1106C>G (p.Ala369Gly) c.1100C>G (p.Ala367Gly) c.1103C>G (p.Ala368Gly) c.299C>G (p.Ala100Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768238C>T | CA351073773 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1094C>T (p.Ala365Val) c.1106C>T (p.Ala369Val) c.1100C>T (p.Ala367Val) c.1103C>T (p.Ala368Val) c.299C>T (p.Ala100Val) | |
| 2 | g.233768239C>A | CA431858221 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1095C>A (p.Ala365=) c.1107C>A (p.Ala369=) c.1101C>A (p.Ala367=) c.1104C>A (p.Ala368=) c.300C>A (p.Ala100=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768239C= | CA1335895244 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1095C= (p.Ala365=) c.1107C= (p.Ala369=) c.1101C= (p.Ala367=) c.1104C= (p.Ala368=) c.300C= (p.Ala100=) | |
| 2 | g.233768239C>G | CA431858212 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1095C>G (p.Ala365=) c.1107C>G (p.Ala369=) c.1101C>G (p.Ala367=) c.1104C>G (p.Ala368=) c.300C>G (p.Ala100=) | |
| 2 | g.233768239C>T | CA431858217 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1095C>T (p.Ala365=) c.1107C>T (p.Ala369=) c.1101C>T (p.Ala367=) c.1104C>T (p.Ala368=) c.300C>T (p.Ala100=) | |
| 2 | g.233768240T>A | CA351073775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1096T>A (p.Phe366Ile) c.1108T>A (p.Phe370Ile) c.1102T>A (p.Phe368Ile) c.1105T>A (p.Phe369Ile) c.301T>A (p.Phe101Ile) | |
| 2 | g.233768240T>C | CA351073778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1096T>C (p.Phe366Leu) c.1108T>C (p.Phe370Leu) c.1102T>C (p.Phe368Leu) c.1105T>C (p.Phe369Leu) c.301T>C (p.Phe101Leu) | |
| 2 | g.233768240T>G | CA351073783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1096T>G (p.Phe366Val) c.1108T>G (p.Phe370Val) c.1102T>G (p.Phe368Val) c.1105T>G (p.Phe369Val) c.301T>G (p.Phe101Val) | |
| 2 | g.233768241T>A | CA351073786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1097T>A (p.Phe366Tyr) c.1109T>A (p.Phe370Tyr) c.1103T>A (p.Phe368Tyr) c.1106T>A (p.Phe369Tyr) c.302T>A (p.Phe101Tyr) | |
| 2 | g.233768241T>C | CA351073787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1097T>C (p.Phe366Ser) c.1109T>C (p.Phe370Ser) c.1103T>C (p.Phe368Ser) c.1106T>C (p.Phe369Ser) c.302T>C (p.Phe101Ser) | |
| 2 | g.233768241T>G | CA351073788 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1097T>G (p.Phe366Cys) c.1109T>G (p.Phe370Cys) c.1103T>G (p.Phe368Cys) c.1106T>G (p.Phe369Cys) c.302T>G (p.Phe101Cys) | |
| 2 | g.233768241_233768279delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA | CA1335895245 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1097_1135delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe366=) c.1109_1147delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe370=) c.1103_1141delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe368=) c.1106_1144delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe369=) c.302_340delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe101=) | |
| 2 | g.233768242T>A | CA351073789 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1098T>A (p.Phe366Leu) c.1110T>A (p.Phe370Leu) c.1104T>A (p.Phe368Leu) c.1107T>A (p.Phe369Leu) c.303T>A (p.Phe101Leu) | |
| 2 | g.233768242T>C | CA431858241 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1098T>C (p.Phe366=) c.1110T>C (p.Phe370=) c.1104T>C (p.Phe368=) c.1107T>C (p.Phe369=) c.303T>C (p.Phe101=) | |
| 2 | g.233768242T>G | CA351073790 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1098T>G (p.Phe366Leu) c.1110T>G (p.Phe370Leu) c.1104T>G (p.Phe368Leu) c.1107T>G (p.Phe369Leu) c.303T>G (p.Phe101Leu) | |
| 2 | g.233768242_233768249delinsTATCACCC | CA1335895247 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1098_1105delinsTATCACCC (p.Phe366=) c.1110_1117delinsTATCACCC (p.Phe370=) c.1104_1111delinsTATCACCC (p.Phe368=) c.1107_1114delinsTATCACCC (p.Phe369=) c.303_310delinsTATCACCC (p.Phe101=) | |
| 2 | g.233768245_233768282del | CA1335895246 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101_1138del (p.Ile367MetfsTer14) c.1113_1150del (p.Ile371MetfsTer14) c.1107_1144del (p.Ile369MetfsTer14) c.1110_1147del (p.Ile370MetfsTer14) c.306_343del (p.Ile102MetfsTer14) | dbSNP |
| 2 | g.233768243A= | CA1335895248 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1099A= (p.Ile367=) c.1111A= (p.Ile371=) c.1105A= (p.Ile369=) c.1108A= (p.Ile370=) c.304A= (p.Ile102=) | |
| 2 | g.233768243A>C | CA351073792 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1099A>C (p.Ile367Leu) c.1111A>C (p.Ile371Leu) c.1105A>C (p.Ile369Leu) c.1108A>C (p.Ile370Leu) c.304A>C (p.Ile102Leu) | |
| 2 | g.233768243A>G | CA2180013 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1099A>G (p.Ile367Val) c.1111A>G (p.Ile371Val) c.1105A>G (p.Ile369Val) c.1108A>G (p.Ile370Val) c.304A>G (p.Ile102Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768243A>T | CA351073795 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1099A>T (p.Ile367Phe) c.1111A>T (p.Ile371Phe) c.1105A>T (p.Ile369Phe) c.1108A>T (p.Ile370Phe) c.304A>T (p.Ile102Phe) | gnomAD v4 |
| 2 | g.233768245_233768251del | CA1043571367 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101_1107del (p.Ile367MetfsTer18) c.1113_1119del (p.Ile371MetfsTer18) c.1107_1113del (p.Ile369MetfsTer18) c.1110_1116del (p.Ile370MetfsTer18) c.306_312del (p.Ile102MetfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768244T>A | CA351073800 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1100T>A (p.Ile367Asn) c.1112T>A (p.Ile371Asn) c.1106T>A (p.Ile369Asn) c.1109T>A (p.Ile370Asn) c.305T>A (p.Ile102Asn) |