| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233768226C>A | CA351073704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C>A (p.Pro361Gln) c.1094C>A (p.Pro365Gln) c.1088C>A (p.Pro363Gln) c.1091C>A (p.Pro364Gln) c.287C>A (p.Pro96Gln) | gnomAD v4 |
| 2 | g.233768226C= | CA1335895233 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C= (p.Pro361=) c.1094C= (p.Pro365=) c.1088C= (p.Pro363=) c.1091C= (p.Pro364=) c.287C= (p.Pro96=) | |
| 2 | g.233768226C>G | CA351073708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C>G (p.Pro361Arg) c.1094C>G (p.Pro365Arg) c.1088C>G (p.Pro363Arg) c.1091C>G (p.Pro364Arg) c.287C>G (p.Pro96Arg) | dbSNP |
| 2 | g.233768226C>T | CA209149 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C>T (p.Pro361Leu) c.1094C>T (p.Pro365Leu) c.1088C>T (p.Pro363Leu) c.1091C>T (p.Pro364Leu) c.287C>T (p.Pro96Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768227G>A | CA2180007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1083G>A (p.Pro361=) c.1095G>A (p.Pro365=) c.1089G>A (p.Pro363=) c.1092G>A (p.Pro364=) c.288G>A (p.Pro96=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768227G>C | CA67596165 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1083G>C (p.Pro361=) c.1095G>C (p.Pro365=) c.1089G>C (p.Pro363=) c.1092G>C (p.Pro364=) c.288G>C (p.Pro96=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768227G= | CA1335895234 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1083G= (p.Pro361=) c.1095G= (p.Pro365=) c.1089G= (p.Pro363=) c.1092G= (p.Pro364=) c.288G= (p.Pro96=) | |
| 2 | g.233768227G>T | CA431858124 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1083G>T (p.Pro361=) c.1095G>T (p.Pro365=) c.1089G>T (p.Pro363=) c.1092G>T (p.Pro364=) c.288G>T (p.Pro96=) | |
| 2 | g.233768228A= | CA1335895235 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1084A= (p.Met362=) c.1096A= (p.Met366=) c.1090A= (p.Met364=) c.1093A= (p.Met365=) c.289A= (p.Met97=) | |
| 2 | g.233768228A>C | CA351073710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1084A>C (p.Met362Leu) c.1096A>C (p.Met366Leu) c.1090A>C (p.Met364Leu) c.1093A>C (p.Met365Leu) c.289A>C (p.Met97Leu) | |
| 2 | g.233768228A>G | CA2180008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1084A>G (p.Met362Val) c.1096A>G (p.Met366Val) c.1090A>G (p.Met364Val) c.1093A>G (p.Met365Val) c.289A>G (p.Met97Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768228A>T | CA351073714 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1084A>T (p.Met362Leu) c.1096A>T (p.Met366Leu) c.1090A>T (p.Met364Leu) c.1093A>T (p.Met365Leu) c.289A>T (p.Met97Leu) | |
| 2 | g.233768229T>A | CA351073718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1085T>A (p.Met362Lys) c.1097T>A (p.Met366Lys) c.1091T>A (p.Met364Lys) c.1094T>A (p.Met365Lys) c.290T>A (p.Met97Lys) | |
| 2 | g.233768229T>C | CA2180009 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1085T>C (p.Met362Thr) c.1097T>C (p.Met366Thr) c.1091T>C (p.Met364Thr) c.1094T>C (p.Met365Thr) c.290T>C (p.Met97Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768229T>G | CA351073719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1085T>G (p.Met362Arg) c.1097T>G (p.Met366Arg) c.1091T>G (p.Met364Arg) c.1094T>G (p.Met365Arg) c.290T>G (p.Met97Arg) | |
| 2 | g.233768229T= | CA1335895236 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1085T= (p.Met362=) c.1097T= (p.Met366=) c.1091T= (p.Met364=) c.1094T= (p.Met365=) c.290T= (p.Met97=) | |
| 2 | g.233768230G>A | CA351073723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1086G>A (p.Met362Ile) c.1098G>A (p.Met366Ile) c.1092G>A (p.Met364Ile) c.1095G>A (p.Met365Ile) c.291G>A (p.Met97Ile) | |
| 2 | g.233768230G>C | CA351073724 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1086G>C (p.Met362Ile) c.1098G>C (p.Met366Ile) c.1092G>C (p.Met364Ile) c.1095G>C (p.Met365Ile) c.291G>C (p.Met97Ile) | |
| 2 | g.233768230G>T | CA351073726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1086G>T (p.Met362Ile) c.1098G>T (p.Met366Ile) c.1092G>T (p.Met364Ile) c.1095G>T (p.Met365Ile) c.291G>T (p.Met97Ile) | |
| 2 | g.233768231A>C | CA351073730 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1087A>C (p.Thr363Pro) c.1099A>C (p.Thr367Pro) c.1093A>C (p.Thr365Pro) c.1096A>C (p.Thr366Pro) c.292A>C (p.Thr98Pro) | |
| 2 | g.233768231A>G | CA351073734 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1087A>G (p.Thr363Ala) c.1099A>G (p.Thr367Ala) c.1093A>G (p.Thr365Ala) c.1096A>G (p.Thr366Ala) c.292A>G (p.Thr98Ala) | gnomAD v4 |
| 2 | g.233768231A>T | CA351073736 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1087A>T (p.Thr363Ser) c.1099A>T (p.Thr367Ser) c.1093A>T (p.Thr365Ser) c.1096A>T (p.Thr366Ser) c.292A>T (p.Thr98Ser) | gnomAD v4 |
| 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) |