| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.233768253_233768285delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA | CA1335895252 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1109_1141delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala370=) c.1121_1153delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala374=) c.1115_1147delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala372=) c.1118_1150delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala373=) c.314_346delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala105=) | |
| 2 | g.233768254_233768285del | CA1043571376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1110_1141del (p.Gly371TrpfsTer12) c.1122_1153del (p.Gly375TrpfsTer12) c.1116_1147del (p.Gly373TrpfsTer12) c.1119_1150del (p.Gly374TrpfsTer12) c.315_346del (p.Gly106TrpfsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768268_233768302dup | CA1043571392 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1124_1158dup (p.Met387PhefsTer12) c.1136_1170dup (p.Met391PhefsTer12) c.1130_1164dup (p.Met389PhefsTer12) c.1133_1167dup (p.Met390PhefsTer12) c.329_363dup (p.Met122PhefsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768259C>A | CA351073910 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C>A (p.Ser372Tyr) c.1127C>A (p.Ser376Tyr) c.1121C>A (p.Ser374Tyr) c.1124C>A (p.Ser375Tyr) c.320C>A (p.Ser107Tyr) | |
| 2 | g.233768259C= | CA1335895255 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C= (p.Ser372=) c.1127C= (p.Ser376=) c.1121C= (p.Ser374=) c.1124C= (p.Ser375=) c.320C= (p.Ser107=) | |
| 2 | g.233768259C>G | CA351073915 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C>G (p.Ser372Cys) c.1127C>G (p.Ser376Cys) c.1121C>G (p.Ser374Cys) c.1124C>G (p.Ser375Cys) c.320C>G (p.Ser107Cys) | |
| 2 | g.233768259C>T | CA122007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C>T (p.Ser372Phe) c.1127C>T (p.Ser376Phe) c.1121C>T (p.Ser374Phe) c.1124C>T (p.Ser375Phe) c.320C>T (p.Ser107Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768260C>A | CA431858408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1116C>A (p.Ser372=) c.1128C>A (p.Ser376=) c.1122C>A (p.Ser374=) c.1125C>A (p.Ser375=) c.321C>A (p.Ser107=) | |
| 2 | g.233768260C>G | CA431858405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1116C>G (p.Ser372=) c.1128C>G (p.Ser376=) c.1122C>G (p.Ser374=) c.1125C>G (p.Ser375=) c.321C>G (p.Ser107=) | |
| 2 | g.233768260C>T | CA431858402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1116C>T (p.Ser372=) c.1128C>T (p.Ser376=) c.1122C>T (p.Ser374=) c.1125C>T (p.Ser375=) c.321C>T (p.Ser107=) | gnomAD v4 |
| 2 | g.233768261C>A | CA351073923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1117C>A (p.His373Asn) c.1129C>A (p.His377Asn) c.1123C>A (p.His375Asn) c.1126C>A (p.His376Asn) c.322C>A (p.His108Asn) | |
| 2 | g.233768261C>G | CA351073924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1117C>G (p.His373Asp) c.1129C>G (p.His377Asp) c.1123C>G (p.His375Asp) c.1126C>G (p.His376Asp) c.322C>G (p.His108Asp) | |
| 2 | g.233768261C>T | CA351073925 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1117C>T (p.His373Tyr) c.1129C>T (p.His377Tyr) c.1123C>T (p.His375Tyr) c.1126C>T (p.His376Tyr) c.322C>T (p.His108Tyr) | gnomAD v4 |
| 2 | g.233768262A= | CA1335895256 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1118A= (p.His373=) c.1130A= (p.His377=) c.1124A= (p.His375=) c.1127A= (p.His376=) c.323A= (p.His108=) | |
| 2 | g.233768262A>C | CA351073928 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1118A>C (p.His373Pro) c.1130A>C (p.His377Pro) c.1124A>C (p.His375Pro) c.1127A>C (p.His376Pro) c.323A>C (p.His108Pro) | |
| 2 | g.233768262A>G | CA351073930 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1118A>G (p.His373Arg) c.1130A>G (p.His377Arg) c.1124A>G (p.His375Arg) c.1127A>G (p.His376Arg) c.323A>G (p.His108Arg) | dbSNP gnomAD v4 |
| 2 | g.233768262A>T | CA351073933 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1118A>T (p.His373Leu) c.1130A>T (p.His377Leu) c.1124A>T (p.His375Leu) c.1127A>T (p.His376Leu) c.323A>T (p.His108Leu) | |
| 2 | g.233768263T>A | CA351073939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1119T>A (p.His373Gln) c.1131T>A (p.His377Gln) c.1125T>A (p.His375Gln) c.1128T>A (p.His376Gln) c.324T>A (p.His108Gln) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233768263T>C | CA431858432 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1119T>C (p.His373=) c.1131T>C (p.His377=) c.1125T>C (p.His375=) c.1128T>C (p.His376=) c.324T>C (p.His108=) | dbSNP gnomAD v4 |
| 2 | g.233768263T>G | CA351073936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1119T>G (p.His373Gln) c.1131T>G (p.His377Gln) c.1125T>G (p.His375Gln) c.1128T>G (p.His376Gln) c.324T>G (p.His108Gln) | |
| 2 | g.233768263T= | CA1335895257 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1119T= (p.His373=) c.1131T= (p.His377=) c.1125T= (p.His375=) c.1128T= (p.His376=) c.324T= (p.His108=) | |
| 2 | g.233768264G>A | CA2180014 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1120G>A (p.Gly374Ser) c.1132G>A (p.Gly378Ser) c.1126G>A (p.Gly376Ser) c.1129G>A (p.Gly377Ser) c.325G>A (p.Gly109Ser) | dbSNP ExAC gnomAD v2 |
| 2 | g.233768264G>C | CA351073958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1120G>C (p.Gly374Arg) c.1132G>C (p.Gly378Arg) c.1126G>C (p.Gly376Arg) c.1129G>C (p.Gly377Arg) c.325G>C (p.Gly109Arg) | |
| 2 | g.233768264G= | CA1335895258 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1120G= (p.Gly374=) c.1132G= (p.Gly378=) c.1126G= (p.Gly376=) c.1129G= (p.Gly377=) c.325G= (p.Gly109=) | |
| 2 | g.233768264G>T | CA351073953 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1120G>T (p.Gly374Cys) c.1132G>T (p.Gly378Cys) c.1126G>T (p.Gly376Cys) c.1129G>T (p.Gly377Cys) c.325G>T (p.Gly109Cys) | |
| 2 | g.233768265G>A | CA351073962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1121G>A (p.Gly374Asp) c.1133G>A (p.Gly378Asp) c.1127G>A (p.Gly376Asp) c.1130G>A (p.Gly377Asp) c.326G>A (p.Gly109Asp) | |
| 2 | g.233768265G>C | CA351073969 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1121G>C (p.Gly374Ala) c.1133G>C (p.Gly378Ala) c.1127G>C (p.Gly376Ala) c.1130G>C (p.Gly377Ala) c.326G>C (p.Gly109Ala) | |
| 2 | g.233768265G= | CA1335895259 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1121G= (p.Gly374=) c.1133G= (p.Gly378=) c.1127G= (p.Gly376=) c.1130G= (p.Gly377=) c.326G= (p.Gly109=) | |
| 2 | g.233768265G>T | CA351073967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1121G>T (p.Gly374Val) c.1133G>T (p.Gly378Val) c.1127G>T (p.Gly376Val) c.1130G>T (p.Gly377Val) c.326G>T (p.Gly109Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768266T>A | CA431858457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1122T>A (p.Gly374=) c.1134T>A (p.Gly378=) c.1128T>A (p.Gly376=) c.1131T>A (p.Gly377=) c.327T>A (p.Gly109=) | |
| 2 | g.233768266T>C | CA2180015 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1122T>C (p.Gly374=) c.1134T>C (p.Gly378=) c.1128T>C (p.Gly376=) c.1131T>C (p.Gly377=) c.327T>C (p.Gly109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233768266T>G | CA431858460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1122T>G (p.Gly374=) c.1134T>G (p.Gly378=) c.1128T>G (p.Gly376=) c.1131T>G (p.Gly377=) c.327T>G (p.Gly109=) | |
| 2 | g.233768266T= | CA1335895260 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1122T= (p.Gly374=) c.1134T= (p.Gly378=) c.1128T= (p.Gly376=) c.1131T= (p.Gly377=) c.327T= (p.Gly109=) | |
| 2 | g.233768267G>A | CA351073972 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1123G>A (p.Val375Ile) c.1135G>A (p.Val379Ile) c.1129G>A (p.Val377Ile) c.1132G>A (p.Val378Ile) c.328G>A (p.Val110Ile) | |
| 2 | g.233768267G>C | CA351073973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1123G>C (p.Val375Leu) c.1135G>C (p.Val379Leu) c.1129G>C (p.Val377Leu) c.1132G>C (p.Val378Leu) c.328G>C (p.Val110Leu) | |
| 2 | g.233768267G>T | CA351073974 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1123G>T (p.Val375Phe) c.1135G>T (p.Val379Phe) c.1129G>T (p.Val377Phe) c.1132G>T (p.Val378Phe) c.328G>T (p.Val110Phe) | |
| 2 | g.233768268T>A | CA351073976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1124T>A (p.Val375Asp) c.1136T>A (p.Val379Asp) c.1130T>A (p.Val377Asp) c.1133T>A (p.Val378Asp) c.329T>A (p.Val110Asp) | gnomAD v4 |
| 2 | g.233768268T>C | CA351073980 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1124T>C (p.Val375Ala) c.1136T>C (p.Val379Ala) c.1130T>C (p.Val377Ala) c.1133T>C (p.Val378Ala) c.329T>C (p.Val110Ala) | |
| 2 | g.233768268T>G | CA351073982 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1124T>G (p.Val375Gly) c.1136T>G (p.Val379Gly) c.1130T>G (p.Val377Gly) c.1133T>G (p.Val378Gly) c.329T>G (p.Val110Gly) | |
| 2 | g.233768270del | CA2663717384 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1126del (p.Tyr376MetfsTer11) c.1138del (p.Tyr380MetfsTer11) c.1132del (p.Tyr378MetfsTer11) c.1135del (p.Tyr379MetfsTer11) c.331del (p.Tyr111MetfsTer11) | gnomAD v4 |
| 2 | g.233768269T>A | CA431858498 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1125T>A (p.Val375=) c.1137T>A (p.Val379=) c.1131T>A (p.Val377=) c.1134T>A (p.Val378=) c.330T>A (p.Val110=) | |
| 2 | g.233768269T>C | CA431858492 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1125T>C (p.Val375=) c.1137T>C (p.Val379=) c.1131T>C (p.Val377=) c.1134T>C (p.Val378=) c.330T>C (p.Val110=) | |
| 2 | g.233768269T>G | CA431858496 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1125T>G (p.Val375=) c.1137T>G (p.Val379=) c.1131T>G (p.Val377=) c.1134T>G (p.Val378=) c.330T>G (p.Val110=) | |
| 2 | g.233768270T>A | CA351073985 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1126T>A (p.Tyr376Asn) c.1138T>A (p.Tyr380Asn) c.1132T>A (p.Tyr378Asn) c.1135T>A (p.Tyr379Asn) c.331T>A (p.Tyr111Asn) | |
| 2 | g.233768270T>C | CA351073988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1126T>C (p.Tyr376His) c.1138T>C (p.Tyr380His) c.1132T>C (p.Tyr378His) c.1135T>C (p.Tyr379His) c.331T>C (p.Tyr111His) | |
| 2 | g.233768270T>G | CA351073990 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1126T>G (p.Tyr376Asp) c.1138T>G (p.Tyr380Asp) c.1132T>G (p.Tyr378Asp) c.1135T>G (p.Tyr379Asp) c.331T>G (p.Tyr111Asp) |