Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233768234_233768239del | CA2754693427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090_1095del (p.Arg364_Ala365del) c.1102_1107del (p.Arg368_Ala369del) c.1096_1101del (p.Arg366_Ala367del) c.1099_1104del (p.Arg367_Ala368del) c.295_300del (p.Arg99_Ala100del) | |
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) | |
2 | g.233768244T>C | CA351073809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1100T>C (p.Ile367Thr) c.1112T>C (p.Ile371Thr) c.1106T>C (p.Ile369Thr) c.1109T>C (p.Ile370Thr) c.305T>C (p.Ile102Thr) | |
2 | g.233768244T>G | CA351073810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1100T>G (p.Ile367Ser) c.1112T>G (p.Ile371Ser) c.1106T>G (p.Ile369Ser) c.1109T>G (p.Ile370Ser) c.305T>G (p.Ile102Ser) | |
2 | g.233768244_233768285delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA | CA1335895249 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1100_1141delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile367=) c.1112_1153delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile371=) c.1106_1147delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile369=) c.1109_1150delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile370=) c.305_346delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile102=) | |
2 | g.233768245C>A | CA431858259 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101C>A (p.Ile367=) c.1113C>A (p.Ile371=) c.1107C>A (p.Ile369=) c.1110C>A (p.Ile370=) c.306C>A (p.Ile102=) | |
2 | g.233768245C>G | CA351073811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101C>G (p.Ile367Met) c.1113C>G (p.Ile371Met) c.1107C>G (p.Ile369Met) c.1110C>G (p.Ile370Met) c.306C>G (p.Ile102Met) | |
2 | g.233768245C>T | CA431858258 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101C>T (p.Ile367=) c.1113C>T (p.Ile371=) c.1107C>T (p.Ile369=) c.1110C>T (p.Ile370=) c.306C>T (p.Ile102=) | |
2 | g.233768245_233768285delinsGC | CA913189478 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101_1141delinsGC (p.Ile367_Asn381delinsMetHis) c.1113_1153delinsGC (p.Ile371_Asn385delinsMetHis) c.1107_1147delinsGC (p.Ile369_Asn383delinsMetHis) c.1110_1150delinsGC (p.Ile370_Asn384delinsMetHis) c.306_346delinsGC (p.Ile102_Asn116delinsMetHis) | ClinVar dbSNP |
2 | g.233768246A>C | CA351073812 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1102A>C (p.Thr368Pro) c.1114A>C (p.Thr372Pro) c.1108A>C (p.Thr370Pro) c.1111A>C (p.Thr371Pro) c.307A>C (p.Thr103Pro) | |
2 | g.233768246A>G | CA351073814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1102A>G (p.Thr368Ala) c.1114A>G (p.Thr372Ala) c.1108A>G (p.Thr370Ala) c.1111A>G (p.Thr371Ala) c.307A>G (p.Thr103Ala) | |
2 | g.233768246A>T | CA351073816 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1102A>T (p.Thr368Ser) c.1114A>T (p.Thr372Ser) c.1108A>T (p.Thr370Ser) c.1111A>T (p.Thr371Ser) c.307A>T (p.Thr103Ser) | |
2 | g.233768247C>A | CA351073833 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1103C>A (p.Thr368Asn) c.1115C>A (p.Thr372Asn) c.1109C>A (p.Thr370Asn) c.1112C>A (p.Thr371Asn) c.308C>A (p.Thr103Asn) | |
2 | g.233768247C= | CA1335895250 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1103C= (p.Thr368=) c.1115C= (p.Thr372=) c.1109C= (p.Thr370=) c.1112C= (p.Thr371=) c.308C= (p.Thr103=) | |
2 | g.233768247C>G | CA351073836 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1103C>G (p.Thr368Ser) c.1115C>G (p.Thr372Ser) c.1109C>G (p.Thr370Ser) c.1112C>G (p.Thr371Ser) c.308C>G (p.Thr103Ser) | |
2 | g.233768247C>T | CA351073840 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1103C>T (p.Thr368Ile) c.1115C>T (p.Thr372Ile) c.1109C>T (p.Thr370Ile) c.1112C>T (p.Thr371Ile) c.308C>T (p.Thr103Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233768248C>A | CA431858280 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1104C>A (p.Thr368=) c.1116C>A (p.Thr372=) c.1110C>A (p.Thr370=) c.1113C>A (p.Thr371=) c.309C>A (p.Thr103=) | gnomAD v4 |
2 | g.233768248C>G | CA431858291 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1104C>G (p.Thr368=) c.1116C>G (p.Thr372=) c.1110C>G (p.Thr370=) c.1113C>G (p.Thr371=) c.309C>G (p.Thr103=) | |
2 | g.233768248C>T | CA431858283 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1104C>T (p.Thr368=) c.1116C>T (p.Thr372=) c.1110C>T (p.Thr370=) c.1113C>T (p.Thr371=) c.309C>T (p.Thr103=) | |
2 | g.233768249C>A | CA351073844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1105C>A (p.His369Asn) c.1117C>A (p.His373Asn) c.1111C>A (p.His371Asn) c.1114C>A (p.His372Asn) c.310C>A (p.His104Asn) | dbSNP |
2 | g.233768249C= | CA1335895251 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1105C= (p.His369=) c.1117C= (p.His373=) c.1111C= (p.His371=) c.1114C= (p.His372=) c.310C= (p.His104=) |