Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233768340A>CCA351074937UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1196A>C (p.Lys399Thr)
c.1208A>C (p.Lys403Thr)
c.1202A>C (p.Lys401Thr)
c.1205A>C (p.Lys402Thr)
c.401A>C (p.Lys134Thr)
2g.233768340A>GCA351074938UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1196A>G (p.Lys399Arg)
c.1208A>G (p.Lys403Arg)
c.1202A>G (p.Lys401Arg)
c.1205A>G (p.Lys402Arg)
c.401A>G (p.Lys134Arg)
2g.233768340A>TCA351074939UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1196A>T (p.Lys399Met)
c.1208A>T (p.Lys403Met)
c.1202A>T (p.Lys401Met)
c.1205A>T (p.Lys402Met)
c.401A>T (p.Lys134Met)
2g.233768341G>ACA431859860UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1197G>A (p.Lys399=)
c.1209G>A (p.Lys403=)
c.1203G>A (p.Lys401=)
c.1206G>A (p.Lys402=)
c.402G>A (p.Lys134=)
2g.233768341G>CCA351074940UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1197G>C (p.Lys399Asn)
c.1209G>C (p.Lys403Asn)
c.1203G>C (p.Lys401Asn)
c.1206G>C (p.Lys402Asn)
c.402G>C (p.Lys134Asn)
2g.233768341G>TCA351074941UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1197G>T (p.Lys399Asn)
c.1209G>T (p.Lys403Asn)
c.1203G>T (p.Lys401Asn)
c.1206G>T (p.Lys402Asn)
c.402G>T (p.Lys134Asn)
2g.233768342C>ACA351074942UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1198C>A (p.Arg400Ser)
c.1210C>A (p.Arg404Ser)
c.1204C>A (p.Arg402Ser)
c.1207C>A (p.Arg403Ser)
c.403C>A (p.Arg135Ser)
dbSNP gnomAD v3 gnomAD v4
2g.233768342C=CA1335895294UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1198C= (p.Arg400=)
c.1210C= (p.Arg404=)
c.1204C= (p.Arg402=)
c.1207C= (p.Arg403=)
c.403C= (p.Arg135=)
2g.233768342C>GCA351074943UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1198C>G (p.Arg400Gly)
c.1210C>G (p.Arg404Gly)
c.1204C>G (p.Arg402Gly)
c.1207C>G (p.Arg403Gly)
c.403C>G (p.Arg135Gly)
gnomAD v4
2g.233768342C>TCA2180030UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1198C>T (p.Arg400Cys)
c.1210C>T (p.Arg404Cys)
c.1204C>T (p.Arg402Cys)
c.1207C>T (p.Arg403Cys)
c.403C>T (p.Arg135Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768343G>ACA2180031UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1199G>A (p.Arg400His)
c.1211G>A (p.Arg404His)
c.1205G>A (p.Arg402His)
c.1208G>A (p.Arg403His)
c.404G>A (p.Arg135His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768343G>CCA351074945UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1199G>C (p.Arg400Pro)
c.1211G>C (p.Arg404Pro)
c.1205G>C (p.Arg402Pro)
c.1208G>C (p.Arg403Pro)
c.404G>C (p.Arg135Pro)
2g.233768343G=CA1335895295UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1199G= (p.Arg400=)
c.1211G= (p.Arg404=)
c.1205G= (p.Arg402=)
c.1208G= (p.Arg403=)
c.404G= (p.Arg135=)
2g.233768343G>TCA351074944UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1199G>T (p.Arg400Leu)
c.1211G>T (p.Arg404Leu)
c.1205G>T (p.Arg402Leu)
c.1208G>T (p.Arg403Leu)
c.404G>T (p.Arg135Leu)
ClinVar dbSNP gnomAD v4
2g.233768344C>ACA431859883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1200C>A (p.Arg400=)
c.1212C>A (p.Arg404=)
c.1206C>A (p.Arg402=)
c.1209C>A (p.Arg403=)
c.405C>A (p.Arg135=)
2g.233768344C=CA1335895296UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1200C= (p.Arg400=)
c.1212C= (p.Arg404=)
c.1206C= (p.Arg402=)
c.1209C= (p.Arg403=)
c.405C= (p.Arg135=)
2g.233768344C>GCA431859880UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1200C>G (p.Arg400=)
c.1212C>G (p.Arg404=)
c.1206C>G (p.Arg402=)
c.1209C>G (p.Arg403=)
c.405C>G (p.Arg135=)
2g.233768344C>TCA2180032UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1200C>T (p.Arg400=)
c.1212C>T (p.Arg404=)
c.1206C>T (p.Arg402=)
c.1209C>T (p.Arg403=)
c.405C>T (p.Arg135=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768345A=CA1335895297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1201A= (p.Met401=)
c.1213A= (p.Met405=)
c.1207A= (p.Met403=)
c.1210A= (p.Met404=)
c.406A= (p.Met136=)
2g.233768345A>CCA351074946UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1201A>C (p.Met401Leu)
c.1213A>C (p.Met405Leu)
c.1207A>C (p.Met403Leu)
c.1210A>C (p.Met404Leu)
c.406A>C (p.Met136Leu)
dbSNP
2g.233768345A>GCA2180033UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1201A>G (p.Met401Val)
c.1213A>G (p.Met405Val)
c.1207A>G (p.Met403Val)
c.1210A>G (p.Met404Val)
c.406A>G (p.Met136Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768345A>TCA351074947UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1201A>T (p.Met401Leu)
c.1213A>T (p.Met405Leu)
c.1207A>T (p.Met403Leu)
c.1210A>T (p.Met404Leu)
c.406A>T (p.Met136Leu)
2g.233768346T>ACA351074948UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1202T>A (p.Met401Lys)
c.1214T>A (p.Met405Lys)
c.1208T>A (p.Met403Lys)
c.1211T>A (p.Met404Lys)
c.407T>A (p.Met136Lys)
2g.233768346T>CCA2180034UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1202T>C (p.Met401Thr)
c.1214T>C (p.Met405Thr)
c.1208T>C (p.Met403Thr)
c.1211T>C (p.Met404Thr)
c.407T>C (p.Met136Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768346T>GCA351074949UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1202T>G (p.Met401Arg)
c.1214T>G (p.Met405Arg)
c.1208T>G (p.Met403Arg)
c.1211T>G (p.Met404Arg)
c.407T>G (p.Met136Arg)
2g.233768346T=CA1335895298UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1202T= (p.Met401=)
c.1214T= (p.Met405=)
c.1208T= (p.Met403=)
c.1211T= (p.Met404=)
c.407T= (p.Met136=)
2g.233768347G>ACA351074950UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1203G>A (p.Met401Ile)
c.1215G>A (p.Met405Ile)
c.1209G>A (p.Met403Ile)
c.1212G>A (p.Met404Ile)
c.408G>A (p.Met136Ile)
2g.233768347G>CCA351074951UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1203G>C (p.Met401Ile)
c.1215G>C (p.Met405Ile)
c.1209G>C (p.Met403Ile)
c.1212G>C (p.Met404Ile)
c.408G>C (p.Met136Ile)
2g.233768347G>TCA351074952UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1203G>T (p.Met401Ile)
c.1215G>T (p.Met405Ile)
c.1209G>T (p.Met403Ile)
c.1212G>T (p.Met404Ile)
c.408G>T (p.Met136Ile)
dbSNP
2g.233768351_233768360delCA2740098050UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1207_1216del (p.Thr403LeufsTer3)
c.1219_1228del (p.Thr407LeufsTer3)
c.1213_1222del (p.Thr405LeufsTer3)
c.1216_1225del (p.Thr406LeufsTer3)
c.412_421del (p.Thr138LeufsTer3)
ClinVar
2g.233768348G>ACA351074953UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1204G>A (p.Glu402Lys)
c.1216G>A (p.Glu406Lys)
c.1210G>A (p.Glu404Lys)
c.1213G>A (p.Glu405Lys)
c.409G>A (p.Glu137Lys)
2g.233768348G>CCA351074954UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1204G>C (p.Glu402Gln)
c.1216G>C (p.Glu406Gln)
c.1210G>C (p.Glu404Gln)
c.1213G>C (p.Glu405Gln)
c.409G>C (p.Glu137Gln)
2g.233768348G>TCA351074955UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1204G>T (p.Glu402Ter)
c.1216G>T (p.Glu406Ter)
c.1210G>T (p.Glu404Ter)
c.1213G>T (p.Glu405Ter)
c.409G>T (p.Glu137Ter)
gnomAD v4
2g.233768349A=CA1335895299UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1205A= (p.Glu402=)
c.1217A= (p.Glu406=)
c.1211A= (p.Glu404=)
c.1214A= (p.Glu405=)
c.410A= (p.Glu137=)
2g.233768349A>CCA351074956UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1205A>C (p.Glu402Ala)
c.1217A>C (p.Glu406Ala)
c.1211A>C (p.Glu404Ala)
c.1214A>C (p.Glu405Ala)
c.410A>C (p.Glu137Ala)
2g.233768349A>GCA351074957UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1205A>G (p.Glu402Gly)
c.1217A>G (p.Glu406Gly)
c.1211A>G (p.Glu404Gly)
c.1214A>G (p.Glu405Gly)
c.410A>G (p.Glu137Gly)
2g.233768349A>TCA351074958UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1205A>T (p.Glu402Val)
c.1217A>T (p.Glu406Val)
c.1211A>T (p.Glu404Val)
c.1214A>T (p.Glu405Val)
c.410A>T (p.Glu137Val)
dbSNP gnomAD v4
2g.233768350G>ACA431859921UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1206G>A (p.Glu402=)
c.1218G>A (p.Glu406=)
c.1212G>A (p.Glu404=)
c.1215G>A (p.Glu405=)
c.411G>A (p.Glu137=)
gnomAD v4
2g.233768350G>CCA351074959UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1206G>C (p.Glu402Asp)
c.1218G>C (p.Glu406Asp)
c.1212G>C (p.Glu404Asp)
c.1215G>C (p.Glu405Asp)
c.411G>C (p.Glu137Asp)
2g.233768350G>TCA351074960UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1206G>T (p.Glu402Asp)
c.1218G>T (p.Glu406Asp)
c.1212G>T (p.Glu404Asp)
c.1215G>T (p.Glu405Asp)
c.411G>T (p.Glu137Asp)
2g.233768351A>CCA351074961UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1207A>C (p.Thr403Pro)
c.1219A>C (p.Thr407Pro)
c.1213A>C (p.Thr405Pro)
c.1216A>C (p.Thr406Pro)
c.412A>C (p.Thr138Pro)
2g.233768351A>GCA351074963UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1207A>G (p.Thr403Ala)
c.1219A>G (p.Thr407Ala)
c.1213A>G (p.Thr405Ala)
c.1216A>G (p.Thr406Ala)
c.412A>G (p.Thr138Ala)
2g.233768351A>TCA351074962UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1207A>T (p.Thr403Ser)
c.1219A>T (p.Thr407Ser)
c.1213A>T (p.Thr405Ser)
c.1216A>T (p.Thr406Ser)
c.412A>T (p.Thr138Ser)
2g.233768352C>ACA351074964UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1208C>A (p.Thr403Asn)
c.1220C>A (p.Thr407Asn)
c.1214C>A (p.Thr405Asn)
c.1217C>A (p.Thr406Asn)
c.413C>A (p.Thr138Asn)
2g.233768352C>GCA351074965UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1208C>G (p.Thr403Ser)
c.1220C>G (p.Thr407Ser)
c.1214C>G (p.Thr405Ser)
c.1217C>G (p.Thr406Ser)
c.413C>G (p.Thr138Ser)
2g.233768352C>TCA351074966UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1208C>T (p.Thr403Ile)
c.1220C>T (p.Thr407Ile)
c.1214C>T (p.Thr405Ile)
c.1217C>T (p.Thr406Ile)
c.413C>T (p.Thr138Ile)
2g.233768353T>ACA431859946UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1209T>A (p.Thr403=)
c.1221T>A (p.Thr407=)
c.1215T>A (p.Thr405=)
c.1218T>A (p.Thr406=)
c.414T>A (p.Thr138=)
2g.233768353T>CCA431859944UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1209T>C (p.Thr403=)
c.1221T>C (p.Thr407=)
c.1215T>C (p.Thr405=)
c.1218T>C (p.Thr406=)
c.414T>C (p.Thr138=)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768353T>GCA431859948UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1209T>G (p.Thr403=)
c.1221T>G (p.Thr407=)
c.1215T>G (p.Thr405=)
c.1218T>G (p.Thr406=)
c.414T>G (p.Thr138=)
dbSNP
2g.233768353T=CA1335895301UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1209T= (p.Thr403=)
c.1221T= (p.Thr407=)
c.1215T= (p.Thr405=)
c.1218T= (p.Thr406=)
c.414T= (p.Thr138=)
2g.233768353_233768354delinsTACA1335895300UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1209_1210delinsTA (p.Thr403=)
c.1221_1222delinsTA (p.Thr407=)
c.1215_1216delinsTA (p.Thr405=)
c.1218_1219delinsTA (p.Thr406=)
c.414_415delinsTA (p.Thr138=)
2g.233768354A>CCA351074967UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1210A>C (p.Lys404Gln)
c.1222A>C (p.Lys408Gln)
c.1216A>C (p.Lys406Gln)
c.1219A>C (p.Lys407Gln)
c.415A>C (p.Lys139Gln)
2g.233768354A>GCA351074968UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1210A>G (p.Lys404Glu)
c.1222A>G (p.Lys408Glu)
c.1216A>G (p.Lys406Glu)
c.1219A>G (p.Lys407Glu)
c.415A>G (p.Lys139Glu)
2g.233768354A>TCA351074969UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1210A>T (p.Lys404Ter)
c.1222A>T (p.Lys408Ter)
c.1216A>T (p.Lys406Ter)
c.1219A>T (p.Lys407Ter)
c.415A>T (p.Lys139Ter)
2g.233768355delCA67596423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1211del (p.Lys404ArgfsTer5)
c.1223del (p.Lys408ArgfsTer5)
c.1217del (p.Lys406ArgfsTer5)
c.1220del (p.Lys407ArgfsTer5)
c.416del (p.Lys139ArgfsTer5)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233768355A=CA1335895302UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1211A= (p.Lys404=)
c.1223A= (p.Lys408=)
c.1217A= (p.Lys406=)
c.1220A= (p.Lys407=)
c.416A= (p.Lys139=)
2g.233768355A>CCA351074970UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1211A>C (p.Lys404Thr)
c.1223A>C (p.Lys408Thr)
c.1217A>C (p.Lys406Thr)
c.1220A>C (p.Lys407Thr)
c.416A>C (p.Lys139Thr)
2g.233768355A>GCA351074971UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1211A>G (p.Lys404Arg)
c.1223A>G (p.Lys408Arg)
c.1217A>G (p.Lys406Arg)
c.1220A>G (p.Lys407Arg)
c.416A>G (p.Lys139Arg)
dbSNP gnomAD v2 gnomAD v4
2g.233768355A>TCA351074972UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1211A>T (p.Lys404Met)
c.1223A>T (p.Lys408Met)
c.1217A>T (p.Lys406Met)
c.1220A>T (p.Lys407Met)
c.416A>T (p.Lys139Met)
2g.233768356G>ACA431859976UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1212G>A (p.Lys404=)
c.1224G>A (p.Lys408=)
c.1218G>A (p.Lys406=)
c.1221G>A (p.Lys407=)
c.417G>A (p.Lys139=)
2g.233768356G>CCA351074974UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1212G>C (p.Lys404Asn)
c.1224G>C (p.Lys408Asn)
c.1218G>C (p.Lys406Asn)
c.1221G>C (p.Lys407Asn)
c.417G>C (p.Lys139Asn)
2g.233768356G>TCA351074973UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1212G>T (p.Lys404Asn)
c.1224G>T (p.Lys408Asn)
c.1218G>T (p.Lys406Asn)
c.1221G>T (p.Lys407Asn)
c.417G>T (p.Lys139Asn)
2g.233768358dupCA2180035UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1214dup (p.Ala406SerfsTer13)
c.1226dup (p.Ala410SerfsTer13)
c.1220dup (p.Ala408SerfsTer13)
c.1223dup (p.Ala409SerfsTer13)
c.419dup (p.Ala141SerfsTer13)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768357G>ACA351074975UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1213G>A (p.Gly405Arg)
c.1225G>A (p.Gly409Arg)
c.1219G>A (p.Gly407Arg)
c.1222G>A (p.Gly408Arg)
c.418G>A (p.Gly140Arg)
gnomAD v4
2g.233768357G>CCA351074976UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1213G>C (p.Gly405Arg)
c.1225G>C (p.Gly409Arg)
c.1219G>C (p.Gly407Arg)
c.1222G>C (p.Gly408Arg)
c.418G>C (p.Gly140Arg)
2g.233768357G>TCA351074977UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1213G>T (p.Gly405Ter)
c.1225G>T (p.Gly409Ter)
c.1219G>T (p.Gly407Ter)
c.1222G>T (p.Gly408Ter)
c.418G>T (p.Gly140Ter)
2g.233768358G>ACA2180036UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1214G>A (p.Gly405Glu)
c.1226G>A (p.Gly409Glu)
c.1220G>A (p.Gly407Glu)
c.1223G>A (p.Gly408Glu)
c.419G>A (p.Gly140Glu)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768358G>CCA351074978UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1214G>C (p.Gly405Ala)
c.1226G>C (p.Gly409Ala)
c.1220G>C (p.Gly407Ala)
c.1223G>C (p.Gly408Ala)
c.419G>C (p.Gly140Ala)
2g.233768358G=CA1335895303UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1214G= (p.Gly405=)
c.1226G= (p.Gly409=)
c.1220G= (p.Gly407=)
c.1223G= (p.Gly408=)
c.419G= (p.Gly140=)
2g.233768358G>TCA351074979UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1214G>T (p.Gly405Val)
c.1226G>T (p.Gly409Val)
c.1220G>T (p.Gly407Val)
c.1223G>T (p.Gly408Val)
c.419G>T (p.Gly140Val)
2g.233768359A>CCA431859995UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1215A>C (p.Gly405=)
c.1227A>C (p.Gly409=)
c.1221A>C (p.Gly407=)
c.1224A>C (p.Gly408=)
c.420A>C (p.Gly140=)
2g.233768359A>GCA431859993UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1215A>G (p.Gly405=)
c.1227A>G (p.Gly409=)
c.1221A>G (p.Gly407=)
c.1224A>G (p.Gly408=)
c.420A>G (p.Gly140=)
2g.233768359A>TCA431859997UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1215A>T (p.Gly405=)
c.1227A>T (p.Gly409=)
c.1221A>T (p.Gly407=)
c.1224A>T (p.Gly408=)
c.420A>T (p.Gly140=)
2g.233768360G>ACA351074980UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1216G>A (p.Ala406Thr)
c.1228G>A (p.Ala410Thr)
c.1222G>A (p.Ala408Thr)
c.1225G>A (p.Ala409Thr)
c.421G>A (p.Ala141Thr)
2g.233768360G>CCA351074981UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1216G>C (p.Ala406Pro)
c.1228G>C (p.Ala410Pro)
c.1222G>C (p.Ala408Pro)
c.1225G>C (p.Ala409Pro)
c.421G>C (p.Ala141Pro)
2g.233768360G>TCA351074982UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1216G>T (p.Ala406Ser)
c.1228G>T (p.Ala410Ser)
c.1222G>T (p.Ala408Ser)
c.1225G>T (p.Ala409Ser)
c.421G>T (p.Ala141Ser)
2g.233768361C>ACA351074983UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1217C>A (p.Ala406Asp)
c.1229C>A (p.Ala410Asp)
c.1223C>A (p.Ala408Asp)
c.1226C>A (p.Ala409Asp)
c.422C>A (p.Ala141Asp)
2g.233768361C=CA1335895304UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1217C= (p.Ala406=)
c.1229C= (p.Ala410=)
c.1223C= (p.Ala408=)
c.1226C= (p.Ala409=)
c.422C= (p.Ala141=)
2g.233768361C>GCA351074984UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1217C>G (p.Ala406Gly)
c.1229C>G (p.Ala410Gly)
c.1223C>G (p.Ala408Gly)
c.1226C>G (p.Ala409Gly)
c.422C>G (p.Ala141Gly)
2g.233768361C>TCA351074985UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1217C>T (p.Ala406Val)
c.1229C>T (p.Ala410Val)
c.1223C>T (p.Ala408Val)
c.1226C>T (p.Ala409Val)
c.422C>T (p.Ala141Val)
dbSNP gnomAD v3 gnomAD v4
2g.233768362T>ACA431860020UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1218T>A (p.Ala406=)
c.1230T>A (p.Ala410=)
c.1224T>A (p.Ala408=)
c.1227T>A (p.Ala409=)
c.423T>A (p.Ala141=)
2g.233768362T>CCA431860023UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1218T>C (p.Ala406=)
c.1230T>C (p.Ala410=)
c.1224T>C (p.Ala408=)
c.1227T>C (p.Ala409=)
c.423T>C (p.Ala141=)
2g.233768362T>GCA431860022UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1218T>G (p.Ala406=)
c.1230T>G (p.Ala410=)
c.1224T>G (p.Ala408=)
c.1227T>G (p.Ala409=)
c.423T>G (p.Ala141=)
2g.233768363G>ACA351074987UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1219G>A (p.Gly407Arg)
c.1231G>A (p.Gly411Arg)
c.1225G>A (p.Gly409Arg)
c.1228G>A (p.Gly410Arg)
c.424G>A (p.Gly142Arg)
2g.233768363G>CCA351074988UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1219G>C (p.Gly407Arg)
c.1231G>C (p.Gly411Arg)
c.1225G>C (p.Gly409Arg)
c.1228G>C (p.Gly410Arg)
c.424G>C (p.Gly142Arg)
2g.233768363G>TCA351074986UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1219G>T (p.Gly407Ter)
c.1231G>T (p.Gly411Ter)
c.1225G>T (p.Gly409Ter)
c.1228G>T (p.Gly410Ter)
c.424G>T (p.Gly142Ter)
2g.233768364G>ACA351074990UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1220G>A (p.Gly407Glu)
c.1232G>A (p.Gly411Glu)
c.1226G>A (p.Gly409Glu)
c.1229G>A (p.Gly410Glu)
c.425G>A (p.Gly142Glu)
ClinVar dbSNP
2g.233768364G>CCA351074989UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1220G>C (p.Gly407Ala)
c.1232G>C (p.Gly411Ala)
c.1226G>C (p.Gly409Ala)
c.1229G>C (p.Gly410Ala)
c.425G>C (p.Gly142Ala)
gnomAD v4
2g.233768364G=CA1335895305UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1220G= (p.Gly407=)
c.1232G= (p.Gly411=)
c.1226G= (p.Gly409=)
c.1229G= (p.Gly410=)
c.425G= (p.Gly142=)
2g.233768364G>TCA351074991UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1220G>T (p.Gly407Val)
c.1232G>T (p.Gly411Val)
c.1226G>T (p.Gly409Val)
c.1229G>T (p.Gly410Val)
c.425G>T (p.Gly142Val)
gnomAD v4
2g.233768365A>CCA431860036UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1221A>C (p.Gly407=)
c.1233A>C (p.Gly411=)
c.1227A>C (p.Gly409=)
c.1230A>C (p.Gly410=)
c.426A>C (p.Gly142=)
2g.233768365A>GCA431860039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1221A>G (p.Gly407=)
c.1233A>G (p.Gly411=)
c.1227A>G (p.Gly409=)
c.1230A>G (p.Gly410=)
c.426A>G (p.Gly142=)
2g.233768365A>TCA431860043UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1221A>T (p.Gly407=)
c.1233A>T (p.Gly411=)
c.1227A>T (p.Gly409=)
c.1230A>T (p.Gly410=)
c.426A>T (p.Gly142=)
2g.233768366G>ACA351074992UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1222G>A (p.Val408Met)
c.1234G>A (p.Val412Met)
c.1228G>A (p.Val410Met)
c.1231G>A (p.Val411Met)
c.427G>A (p.Val143Met)
dbSNP gnomAD v4
2g.233768366G>CCA351074993UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1222G>C (p.Val408Leu)
c.1234G>C (p.Val412Leu)
c.1228G>C (p.Val410Leu)
c.1231G>C (p.Val411Leu)
c.427G>C (p.Val143Leu)
2g.233768366G=CA1335895306UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1222G= (p.Val408=)
c.1234G= (p.Val412=)
c.1228G= (p.Val410=)
c.1231G= (p.Val411=)
c.427G= (p.Val143=)
2g.233768366G>TCA173822UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1222G>T (p.Val408Leu)
c.1234G>T (p.Val412Leu)
c.1228G>T (p.Val410Leu)
c.1231G>T (p.Val411Leu)
c.427G>T (p.Val143Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768367T>ACA351074994UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1223T>A (p.Val408Glu)
c.1235T>A (p.Val412Glu)
c.1229T>A (p.Val410Glu)
c.1232T>A (p.Val411Glu)
c.428T>A (p.Val143Glu)
2g.233768367T>CCA351074995UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1223T>C (p.Val408Ala)
c.1235T>C (p.Val412Ala)
c.1229T>C (p.Val410Ala)
c.1232T>C (p.Val411Ala)
c.428T>C (p.Val143Ala)
gnomAD v4
2g.233768367T>GCA351074996UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1223T>G (p.Val408Gly)
c.1235T>G (p.Val412Gly)
c.1229T>G (p.Val410Gly)
c.1232T>G (p.Val411Gly)
c.428T>G (p.Val143Gly)
2g.233768368G>ACA431860062UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1224G>A (p.Val408=)
c.1236G>A (p.Val412=)
c.1230G>A (p.Val410=)
c.1233G>A (p.Val411=)
c.429G>A (p.Val143=)
2g.233768368G>CCA431860057UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1224G>C (p.Val408=)
c.1236G>C (p.Val412=)
c.1230G>C (p.Val410=)
c.1233G>C (p.Val411=)
c.429G>C (p.Val143=)
2g.233768368G=CA1335895307UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1224G= (p.Val408=)
c.1236G= (p.Val412=)
c.1230G= (p.Val410=)
c.1233G= (p.Val411=)
c.429G= (p.Val143=)
2g.233768368G>TCA431860059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1224G>T (p.Val408=)
c.1236G>T (p.Val412=)
c.1230G>T (p.Val410=)
c.1233G>T (p.Val411=)
c.429G>T (p.Val143=)
dbSNP gnomAD v2 gnomAD v4
2g.233768369A=CA1335895308UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1225A= (p.Thr409=)
c.1237A= (p.Thr413=)
c.1231A= (p.Thr411=)
c.1234A= (p.Thr412=)
c.430A= (p.Thr144=)
2g.233768369A>CCA351074997UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1225A>C (p.Thr409Pro)
c.1237A>C (p.Thr413Pro)
c.1231A>C (p.Thr411Pro)
c.1234A>C (p.Thr412Pro)
c.430A>C (p.Thr144Pro)
2g.233768369A>GCA351074998UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1225A>G (p.Thr409Ala)
c.1237A>G (p.Thr413Ala)
c.1231A>G (p.Thr411Ala)
c.1234A>G (p.Thr412Ala)
c.430A>G (p.Thr144Ala)
2g.233768369A>TCA351074999UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1225A>T (p.Thr409Ser)
c.1237A>T (p.Thr413Ser)
c.1231A>T (p.Thr411Ser)
c.1234A>T (p.Thr412Ser)
c.430A>T (p.Thr144Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233768370C>ACA351075000UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1226C>A (p.Thr409Asn)
c.1238C>A (p.Thr413Asn)
c.1232C>A (p.Thr411Asn)
c.1235C>A (p.Thr412Asn)
c.431C>A (p.Thr144Asn)
2g.233768370C=CA1335895309UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1226C= (p.Thr409=)
c.1238C= (p.Thr413=)
c.1232C= (p.Thr411=)
c.1235C= (p.Thr412=)
c.431C= (p.Thr144=)
2g.233768370C>GCA351075001UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1226C>G (p.Thr409Ser)
c.1238C>G (p.Thr413Ser)
c.1232C>G (p.Thr411Ser)
c.1235C>G (p.Thr412Ser)
c.431C>G (p.Thr144Ser)
2g.233768370C>TCA351075002UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1226C>T (p.Thr409Ile)
c.1238C>T (p.Thr413Ile)
c.1232C>T (p.Thr411Ile)
c.1235C>T (p.Thr412Ile)
c.431C>T (p.Thr144Ile)
dbSNP
2g.233768371C>ACA431860079UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1227C>A (p.Thr409=)
c.1239C>A (p.Thr413=)
c.1233C>A (p.Thr411=)
c.1236C>A (p.Thr412=)
c.432C>A (p.Thr144=)
2g.233768371C>GCA431860081UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1227C>G (p.Thr409=)
c.1239C>G (p.Thr413=)
c.1233C>G (p.Thr411=)
c.1236C>G (p.Thr412=)
c.432C>G (p.Thr144=)
2g.233768371C>TCA431860084UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1227C>T (p.Thr409=)
c.1239C>T (p.Thr413=)
c.1233C>T (p.Thr411=)
c.1236C>T (p.Thr412=)
c.432C>T (p.Thr144=)
gnomAD v4
2g.233768372C>ACA351075003UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1228C>A (p.Leu410Met)
c.1240C>A (p.Leu414Met)
c.1234C>A (p.Leu412Met)
c.1237C>A (p.Leu413Met)
c.433C>A (p.Leu145Met)
gnomAD v4
2g.233768372C>GCA351075004UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1228C>G (p.Leu410Val)
c.1240C>G (p.Leu414Val)
c.1234C>G (p.Leu412Val)
c.1237C>G (p.Leu413Val)
c.433C>G (p.Leu145Val)
2g.233768372C>TCA431860091UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1228C>T (p.Leu410=)
c.1240C>T (p.Leu414=)
c.1234C>T (p.Leu412=)
c.1237C>T (p.Leu413=)
c.433C>T (p.Leu145=)
2g.233768373T>ACA351075005UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1229T>A (p.Leu410Gln)
c.1241T>A (p.Leu414Gln)
c.1235T>A (p.Leu412Gln)
c.1238T>A (p.Leu413Gln)
c.434T>A (p.Leu145Gln)
2g.233768373T>CCA351075006UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1229T>C (p.Leu410Pro)
c.1241T>C (p.Leu414Pro)
c.1235T>C (p.Leu412Pro)
c.1238T>C (p.Leu413Pro)
c.434T>C (p.Leu145Pro)
2g.233768373T>GCA351075007UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1229T>G (p.Leu410Arg)
c.1241T>G (p.Leu414Arg)
c.1235T>G (p.Leu412Arg)
c.1238T>G (p.Leu413Arg)
c.434T>G (p.Leu145Arg)
2g.233768374G>ACA431860107UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1230G>A (p.Leu410=)
c.1242G>A (p.Leu414=)
c.1236G>A (p.Leu412=)
c.1239G>A (p.Leu413=)
c.435G>A (p.Leu145=)
2g.233768374G>CCA431860102UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1230G>C (p.Leu410=)
c.1242G>C (p.Leu414=)
c.1236G>C (p.Leu412=)
c.1239G>C (p.Leu413=)
c.435G>C (p.Leu145=)
2g.233768374G>TCA431860104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1230G>T (p.Leu410=)
c.1242G>T (p.Leu414=)
c.1236G>T (p.Leu412=)
c.1239G>T (p.Leu413=)
c.435G>T (p.Leu145=)
gnomAD v4
2g.233768375A>CCA351075008UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1231A>C (p.Asn411His)
c.1243A>C (p.Asn415His)
c.1237A>C (p.Asn413His)
c.1240A>C (p.Asn414His)
c.436A>C (p.Asn146His)
gnomAD v4
2g.233768375A>GCA351075009UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1231A>G (p.Asn411Asp)
c.1243A>G (p.Asn415Asp)
c.1237A>G (p.Asn413Asp)
c.1240A>G (p.Asn414Asp)
c.436A>G (p.Asn146Asp)
2g.233768375A>TCA351075010UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1231A>T (p.Asn411Tyr)
c.1243A>T (p.Asn415Tyr)
c.1237A>T (p.Asn413Tyr)
c.1240A>T (p.Asn414Tyr)
c.436A>T (p.Asn146Tyr)
2g.233768376A>CCA351075011UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1232A>C (p.Asn411Thr)
c.1244A>C (p.Asn415Thr)
c.1238A>C (p.Asn413Thr)
c.1241A>C (p.Asn414Thr)
c.437A>C (p.Asn146Thr)
2g.233768376A>GCA351075012UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1232A>G (p.Asn411Ser)
c.1244A>G (p.Asn415Ser)
c.1238A>G (p.Asn413Ser)
c.1241A>G (p.Asn414Ser)
c.437A>G (p.Asn146Ser)
gnomAD v4
2g.233768376A>TCA351075013UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1232A>T (p.Asn411Ile)
c.1244A>T (p.Asn415Ile)
c.1238A>T (p.Asn413Ile)
c.1241A>T (p.Asn414Ile)
c.437A>T (p.Asn146Ile)
2g.233768377T>ACA2180037UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1233T>A (p.Asn411Lys)
c.1245T>A (p.Asn415Lys)
c.1239T>A (p.Asn413Lys)
c.1242T>A (p.Asn414Lys)
c.438T>A (p.Asn146Lys)
ClinVar dbSNP ExAC gnomAD v4
2g.233768377T>CCA431860119UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1233T>C (p.Asn411=)
c.1245T>C (p.Asn415=)
c.1239T>C (p.Asn413=)
c.1242T>C (p.Asn414=)
c.438T>C (p.Asn146=)
2g.233768377T>GCA351075014UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1233T>G (p.Asn411Lys)
c.1245T>G (p.Asn415Lys)
c.1239T>G (p.Asn413Lys)
c.1242T>G (p.Asn414Lys)
c.438T>G (p.Asn146Lys)
2g.233768377T=CA1335895310UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1233T= (p.Asn411=)
c.1245T= (p.Asn415=)
c.1239T= (p.Asn413=)
c.1242T= (p.Asn414=)
c.438T= (p.Asn146=)
2g.233768378G>ACA351075016UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1234G>A (p.Val412Ile)
c.1246G>A (p.Val416Ile)
c.1240G>A (p.Val414Ile)
c.1243G>A (p.Val415Ile)
c.439G>A (p.Val147Ile)
2g.233768378G>CCA351075017UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1234G>C (p.Val412Leu)
c.1246G>C (p.Val416Leu)
c.1240G>C (p.Val414Leu)
c.1243G>C (p.Val415Leu)
c.439G>C (p.Val147Leu)
2g.233768378G>TCA351075015UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1234G>T (p.Val412Phe)
c.1246G>T (p.Val416Phe)
c.1240G>T (p.Val414Phe)
c.1243G>T (p.Val415Phe)
c.439G>T (p.Val147Phe)
gnomAD v4
2g.233768379T>ACA351075018UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1235T>A (p.Val412Asp)
c.1247T>A (p.Val416Asp)
c.1241T>A (p.Val414Asp)
c.1244T>A (p.Val415Asp)
c.440T>A (p.Val147Asp)
2g.233768379T>CCA351075019UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1235T>C (p.Val412Ala)
c.1247T>C (p.Val416Ala)
c.1241T>C (p.Val414Ala)
c.1244T>C (p.Val415Ala)
c.440T>C (p.Val147Ala)
2g.233768379T>GCA351075020UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1235T>G (p.Val412Gly)
c.1247T>G (p.Val416Gly)
c.1241T>G (p.Val414Gly)
c.1244T>G (p.Val415Gly)
c.440T>G (p.Val147Gly)
2g.233768380T>ACA431860144UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1236T>A (p.Val412=)
c.1248T>A (p.Val416=)
c.1242T>A (p.Val414=)
c.1245T>A (p.Val415=)
c.441T>A (p.Val147=)
2g.233768380T>CCA431860138UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1236T>C (p.Val412=)
c.1248T>C (p.Val416=)
c.1242T>C (p.Val414=)
c.1245T>C (p.Val415=)
c.441T>C (p.Val147=)
dbSNP
2g.233768380T>GCA431860141UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1236T>G (p.Val412=)
c.1248T>G (p.Val416=)
c.1242T>G (p.Val414=)
c.1245T>G (p.Val415=)
c.441T>G (p.Val147=)
2g.233768380T=CA1335895311UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1236T= (p.Val412=)
c.1248T= (p.Val416=)
c.1242T= (p.Val414=)
c.1245T= (p.Val415=)
c.441T= (p.Val147=)
2g.233768381C>ACA351075021UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1237C>A (p.Leu413Met)
c.1249C>A (p.Leu417Met)
c.1243C>A (p.Leu415Met)
c.1246C>A (p.Leu416Met)
c.442C>A (p.Leu148Met)
2g.233768381C=CA1335895312UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1237C= (p.Leu413=)
c.1249C= (p.Leu417=)
c.1243C= (p.Leu415=)
c.1246C= (p.Leu416=)
c.442C= (p.Leu148=)
2g.233768381C>GCA351075022UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1237C>G (p.Leu413Val)
c.1249C>G (p.Leu417Val)
c.1243C>G (p.Leu415Val)
c.1246C>G (p.Leu416Val)
c.442C>G (p.Leu148Val)
2g.233768381C>TCA2180038UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1237C>T (p.Leu413=)
c.1249C>T (p.Leu417=)
c.1243C>T (p.Leu415=)
c.1246C>T (p.Leu416=)
c.442C>T (p.Leu148=)
dbSNP ExAC gnomAD v4
2g.233768382T>ACA351075023UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1238T>A (p.Leu413Gln)
c.1250T>A (p.Leu417Gln)
c.1244T>A (p.Leu415Gln)
c.1247T>A (p.Leu416Gln)
c.443T>A (p.Leu148Gln)
2g.233768382T>CCA351075024UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1238T>C (p.Leu413Pro)
c.1250T>C (p.Leu417Pro)
c.1244T>C (p.Leu415Pro)
c.1247T>C (p.Leu416Pro)
c.443T>C (p.Leu148Pro)
2g.233768382T>GCA351075025UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1238T>G (p.Leu413Arg)
c.1250T>G (p.Leu417Arg)
c.1244T>G (p.Leu415Arg)
c.1247T>G (p.Leu416Arg)
c.443T>G (p.Leu148Arg)
2g.233768383G>ACA431860164UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1239G>A (p.Leu413=)
c.1251G>A (p.Leu417=)
c.1245G>A (p.Leu415=)
c.1248G>A (p.Leu416=)
c.444G>A (p.Leu148=)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768383G>CCA431860162UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1239G>C (p.Leu413=)
c.1251G>C (p.Leu417=)
c.1245G>C (p.Leu415=)
c.1248G>C (p.Leu416=)
c.444G>C (p.Leu148=)
2g.233768383G>TCA431860166UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1239G>T (p.Leu413=)
c.1251G>T (p.Leu417=)
c.1245G>T (p.Leu415=)
c.1248G>T (p.Leu416=)
c.444G>T (p.Leu148=)
2g.233768384G>ACA351075026UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1240G>A (p.Glu414Lys)
c.1252G>A (p.Glu418Lys)
c.1246G>A (p.Glu416Lys)
c.1249G>A (p.Glu417Lys)
c.445G>A (p.Glu149Lys)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768384G>CCA351075027UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1240G>C (p.Glu414Gln)
c.1252G>C (p.Glu418Gln)
c.1246G>C (p.Glu416Gln)
c.1249G>C (p.Glu417Gln)
c.445G>C (p.Glu149Gln)
2g.233768384G>TCA351075028UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1240G>T (p.Glu414Ter)
c.1252G>T (p.Glu418Ter)
c.1246G>T (p.Glu416Ter)
c.1249G>T (p.Glu417Ter)
c.445G>T (p.Glu149Ter)
2g.233768385A>CCA351075030UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1241A>C (p.Glu414Ala)
c.1253A>C (p.Glu418Ala)
c.1247A>C (p.Glu416Ala)
c.1250A>C (p.Glu417Ala)
c.446A>C (p.Glu149Ala)
2g.233768385A>GCA351075031UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1241A>G (p.Glu414Gly)
c.1253A>G (p.Glu418Gly)
c.1247A>G (p.Glu416Gly)
c.1250A>G (p.Glu417Gly)
c.446A>G (p.Glu149Gly)
2g.233768385A>TCA351075029UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1241A>T (p.Glu414Val)
c.1253A>T (p.Glu418Val)
c.1247A>T (p.Glu416Val)
c.1250A>T (p.Glu417Val)
c.446A>T (p.Glu149Val)
2g.233768387delCA2663717388UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1243del (p.Met415Ter)
c.1255del (p.Met419Ter)
c.1249del (p.Met417Ter)
c.1252del (p.Met418Ter)
c.448del (p.Met150Ter)
gnomAD v4
2g.233768386A>CCA351075032UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1242A>C (p.Glu414Asp)
c.1254A>C (p.Glu418Asp)
c.1248A>C (p.Glu416Asp)
c.1251A>C (p.Glu417Asp)
c.447A>C (p.Glu149Asp)
2g.233768386A>GCA431860187UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1242A>G (p.Glu414=)
c.1254A>G (p.Glu418=)
c.1248A>G (p.Glu416=)
c.1251A>G (p.Glu417=)
c.447A>G (p.Glu149=)
2g.233768386A>TCA351075033UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1242A>T (p.Glu414Asp)
c.1254A>T (p.Glu418Asp)
c.1248A>T (p.Glu416Asp)
c.1251A>T (p.Glu417Asp)
c.447A>T (p.Glu149Asp)
2g.233768387A>CCA351075034UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1243A>C (p.Met415Leu)
c.1255A>C (p.Met419Leu)
c.1249A>C (p.Met417Leu)
c.1252A>C (p.Met418Leu)
c.448A>C (p.Met150Leu)
2g.233768387A>GCA351075035UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1243A>G (p.Met415Val)
c.1255A>G (p.Met419Val)
c.1249A>G (p.Met417Val)
c.1252A>G (p.Met418Val)
c.448A>G (p.Met150Val)
2g.233768387A>TCA351075036UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1243A>T (p.Met415Leu)
c.1255A>T (p.Met419Leu)
c.1249A>T (p.Met417Leu)
c.1252A>T (p.Met418Leu)
c.448A>T (p.Met150Leu)
2g.233768387_233768388delinsATCA1335895313UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1243_1244delinsAT (p.Met415=)
c.1255_1256delinsAT (p.Met419=)
c.1249_1250delinsAT (p.Met417=)
c.1252_1253delinsAT (p.Met418=)
c.448_449delinsAT (p.Met150=)
2g.233768388delCA766291735UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1244del (p.Met415ArgfsTer6)
c.1256del (p.Met419ArgfsTer6)
c.1250del (p.Met417ArgfsTer6)
c.1253del (p.Met418ArgfsTer6)
c.449del (p.Met150ArgfsTer6)
dbSNP
2g.233768388T>ACA351075039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1244T>A (p.Met415Lys)
c.1256T>A (p.Met419Lys)
c.1250T>A (p.Met417Lys)
c.1253T>A (p.Met418Lys)
c.449T>A (p.Met150Lys)
2g.233768388T>CCA351075037UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1244T>C (p.Met415Thr)
c.1256T>C (p.Met419Thr)
c.1250T>C (p.Met417Thr)
c.1253T>C (p.Met418Thr)
c.449T>C (p.Met150Thr)
2g.233768388T>GCA351075038UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1244T>G (p.Met415Arg)
c.1256T>G (p.Met419Arg)
c.1250T>G (p.Met417Arg)
c.1253T>G (p.Met418Arg)
c.449T>G (p.Met150Arg)
2g.233768389G>ACA351075040UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1245G>A (p.Met415Ile)
c.1257G>A (p.Met419Ile)
c.1251G>A (p.Met417Ile)
c.1254G>A (p.Met418Ile)
c.450G>A (p.Met150Ile)
2g.233768389G>CCA351075041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1245G>C (p.Met415Ile)
c.1257G>C (p.Met419Ile)
c.1251G>C (p.Met417Ile)
c.1254G>C (p.Met418Ile)
c.450G>C (p.Met150Ile)
2g.233768389G>TCA351075042UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1245G>T (p.Met415Ile)
c.1257G>T (p.Met419Ile)
c.1251G>T (p.Met417Ile)
c.1254G>T (p.Met418Ile)
c.450G>T (p.Met150Ile)
gnomAD v4
2g.233768390A=CA1335895314UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1246A= (p.Thr416=)
c.1258A= (p.Thr420=)
c.1252A= (p.Thr418=)
c.1255A= (p.Thr419=)
c.451A= (p.Thr151=)
2g.233768390A>CCA351075043UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1246A>C (p.Thr416Pro)
c.1258A>C (p.Thr420Pro)
c.1252A>C (p.Thr418Pro)
c.1255A>C (p.Thr419Pro)
c.451A>C (p.Thr151Pro)
2g.233768390A>GCA2180039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1246A>G (p.Thr416Ala)
c.1258A>G (p.Thr420Ala)
c.1252A>G (p.Thr418Ala)
c.1255A>G (p.Thr419Ala)
c.451A>G (p.Thr151Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768390A>TCA351075044UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1246A>T (p.Thr416Ser)
c.1258A>T (p.Thr420Ser)
c.1252A>T (p.Thr418Ser)
c.1255A>T (p.Thr419Ser)
c.451A>T (p.Thr151Ser)
2g.233768391C>ACA351075046UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1247C>A (p.Thr416Asn)
c.1259C>A (p.Thr420Asn)
c.1253C>A (p.Thr418Asn)
c.1256C>A (p.Thr419Asn)
c.452C>A (p.Thr151Asn)
2g.233768391C>GCA351075047UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1247C>G (p.Thr416Ser)
c.1259C>G (p.Thr420Ser)
c.1253C>G (p.Thr418Ser)
c.1256C>G (p.Thr419Ser)
c.452C>G (p.Thr151Ser)
2g.233768391C>TCA351075045UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1247C>T (p.Thr416Ile)
c.1259C>T (p.Thr420Ile)
c.1253C>T (p.Thr418Ile)
c.1256C>T (p.Thr419Ile)
c.452C>T (p.Thr151Ile)
2g.233768392T>ACA431860228UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1248T>A (p.Thr416=)
c.1260T>A (p.Thr420=)
c.1254T>A (p.Thr418=)
c.1257T>A (p.Thr419=)
c.453T>A (p.Thr151=)
2g.233768392T>CCA431860226UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1248T>C (p.Thr416=)
c.1260T>C (p.Thr420=)
c.1254T>C (p.Thr418=)
c.1257T>C (p.Thr419=)
c.453T>C (p.Thr151=)
2g.233768392T>GCA2180040UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1248T>G (p.Thr416=)
c.1260T>G (p.Thr420=)
c.1254T>G (p.Thr418=)
c.1257T>G (p.Thr419=)
c.453T>G (p.Thr151=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768392T=CA1335895315UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1248T= (p.Thr416=)
c.1260T= (p.Thr420=)
c.1254T= (p.Thr418=)
c.1257T= (p.Thr419=)
c.453T= (p.Thr151=)
2g.233768393T>ACA351075048UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1249T>A (p.Ser417Thr)
c.1261T>A (p.Ser421Thr)
c.1255T>A (p.Ser419Thr)
c.1258T>A (p.Ser420Thr)
c.454T>A (p.Ser152Thr)
2g.233768393T>CCA351075049UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1249T>C (p.Ser417Pro)
c.1261T>C (p.Ser421Pro)
c.1255T>C (p.Ser419Pro)
c.1258T>C (p.Ser420Pro)
c.454T>C (p.Ser152Pro)
2g.233768393T>GCA351075050UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1249T>G (p.Ser417Ala)
c.1261T>G (p.Ser421Ala)
c.1255T>G (p.Ser419Ala)
c.1258T>G (p.Ser420Ala)
c.454T>G (p.Ser152Ala)
2g.233768394C>ACA351075051UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1250C>A (p.Ser417Tyr)
c.1262C>A (p.Ser421Tyr)
c.1256C>A (p.Ser419Tyr)
c.1259C>A (p.Ser420Tyr)
c.455C>A (p.Ser152Tyr)
2g.233768394C=CA1335895316UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1250C= (p.Ser417=)
c.1262C= (p.Ser421=)
c.1256C= (p.Ser419=)
c.1259C= (p.Ser420=)
c.455C= (p.Ser152=)
2g.233768394C>GCA351075052UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1250C>G (p.Ser417Cys)
c.1262C>G (p.Ser421Cys)
c.1256C>G (p.Ser419Cys)
c.1259C>G (p.Ser420Cys)
c.455C>G (p.Ser152Cys)
2g.233768394C>TCA67596473UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1250C>T (p.Ser417Phe)
c.1262C>T (p.Ser421Phe)
c.1256C>T (p.Ser419Phe)
c.1259C>T (p.Ser420Phe)
c.455C>T (p.Ser152Phe)
dbSNP
2g.233768395T>ACA431860247UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1251T>A (p.Ser417=)
c.1263T>A (p.Ser421=)
c.1257T>A (p.Ser419=)
c.1260T>A (p.Ser420=)
c.456T>A (p.Ser152=)
gnomAD v4
2g.233768395T>CCA431860244UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1251T>C (p.Ser417=)
c.1263T>C (p.Ser421=)
c.1257T>C (p.Ser419=)
c.1260T>C (p.Ser420=)
c.456T>C (p.Ser152=)
2g.233768395T>GCA431860246UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1251T>G (p.Ser417=)
c.1263T>G (p.Ser421=)
c.1257T>G (p.Ser419=)
c.1260T>G (p.Ser420=)
c.456T>G (p.Ser152=)
2g.233768396G>ACA351075053UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1252G>A (p.Glu418Lys)
c.1264G>A (p.Glu422Lys)
c.1258G>A (p.Glu420Lys)
c.1261G>A (p.Glu421Lys)
c.457G>A (p.Glu153Lys)
2g.233768396G>CCA351075055UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1252G>C (p.Glu418Gln)
c.1264G>C (p.Glu422Gln)
c.1258G>C (p.Glu420Gln)
c.1261G>C (p.Glu421Gln)
c.457G>C (p.Glu153Gln)
2g.233768396G>TCA351075054UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1252G>T (p.Glu418Ter)
c.1264G>T (p.Glu422Ter)
c.1258G>T (p.Glu420Ter)
c.1261G>T (p.Glu421Ter)
c.457G>T (p.Glu153Ter)
2g.233768397A>CCA351075056UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1253A>C (p.Glu418Ala)
c.1265A>C (p.Glu422Ala)
c.1259A>C (p.Glu420Ala)
c.1262A>C (p.Glu421Ala)
c.458A>C (p.Glu153Ala)
2g.233768397A>GCA351075057UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1253A>G (p.Glu418Gly)
c.1265A>G (p.Glu422Gly)
c.1259A>G (p.Glu420Gly)
c.1262A>G (p.Glu421Gly)
c.458A>G (p.Glu153Gly)
2g.233768397A>TCA351075058UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1253A>T (p.Glu418Val)
c.1265A>T (p.Glu422Val)
c.1259A>T (p.Glu420Val)
c.1262A>T (p.Glu421Val)
c.458A>T (p.Glu153Val)
2g.233768398A>CCA351075059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1254A>C (p.Glu418Asp)
c.1266A>C (p.Glu422Asp)
c.1260A>C (p.Glu420Asp)
c.1263A>C (p.Glu421Asp)
c.459A>C (p.Glu153Asp)
2g.233768398A>GCA431860265UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1254A>G (p.Glu418=)
c.1266A>G (p.Glu422=)
c.1260A>G (p.Glu420=)
c.1263A>G (p.Glu421=)
c.459A>G (p.Glu153=)
2g.233768398A>TCA351075060UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1254A>T (p.Glu418Asp)
c.1266A>T (p.Glu422Asp)
c.1260A>T (p.Glu420Asp)
c.1263A>T (p.Glu421Asp)
c.459A>T (p.Glu153Asp)
2g.233768399G>ACA351075061UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1255G>A (p.Asp419Asn)
c.1267G>A (p.Asp423Asn)
c.1261G>A (p.Asp421Asn)
c.1264G>A (p.Asp422Asn)
c.460G>A (p.Asp154Asn)
gnomAD v4
2g.233768399G>CCA351075063UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1255G>C (p.Asp419His)
c.1267G>C (p.Asp423His)
c.1261G>C (p.Asp421His)
c.1264G>C (p.Asp422His)
c.460G>C (p.Asp154His)
2g.233768399G>TCA351075062UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1255G>T (p.Asp419Tyr)
c.1267G>T (p.Asp423Tyr)
c.1261G>T (p.Asp421Tyr)
c.1264G>T (p.Asp422Tyr)
c.460G>T (p.Asp154Tyr)
gnomAD v4
2g.233768399_233768400delinsGACA1335895317UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1255_1256delinsGA (p.Asp419=)
c.1267_1268delinsGA (p.Asp423=)
c.1261_1262delinsGA (p.Asp421=)
c.1264_1265delinsGA (p.Asp422=)
c.460_461delinsGA (p.Asp154=)
2g.233768400delCA67596479UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1256del (p.Asp419ValfsTer2)
c.1268del (p.Asp423ValfsTer2)
c.1262del (p.Asp421ValfsTer2)
c.1265del (p.Asp422ValfsTer2)
c.461del (p.Asp154ValfsTer2)
dbSNP
2g.233768400A>CCA351075064UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1256A>C (p.Asp419Ala)
c.1268A>C (p.Asp423Ala)
c.1262A>C (p.Asp421Ala)
c.1265A>C (p.Asp422Ala)
c.461A>C (p.Asp154Ala)
2g.233768400A>GCA351075065UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1256A>G (p.Asp419Gly)
c.1268A>G (p.Asp423Gly)
c.1262A>G (p.Asp421Gly)
c.1265A>G (p.Asp422Gly)
c.461A>G (p.Asp154Gly)
2g.233768400A>TCA351075066UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1256A>T (p.Asp419Val)
c.1268A>T (p.Asp423Val)
c.1262A>T (p.Asp421Val)
c.1265A>T (p.Asp422Val)
c.461A>T (p.Asp154Val)
gnomAD v4
2g.233768401T>ACA351075067UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1257T>A (p.Asp419Glu)
c.1269T>A (p.Asp423Glu)
c.1263T>A (p.Asp421Glu)
c.1266T>A (p.Asp422Glu)
c.462T>A (p.Asp154Glu)
2g.233768401T>CCA2180041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1257T>C (p.Asp419=)
c.1269T>C (p.Asp423=)
c.1263T>C (p.Asp421=)
c.1266T>C (p.Asp422=)
c.462T>C (p.Asp154=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768401T>GCA351075068UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1257T>G (p.Asp419Glu)
c.1269T>G (p.Asp423Glu)
c.1263T>G (p.Asp421Glu)
c.1266T>G (p.Asp422Glu)
c.462T>G (p.Asp154Glu)
2g.233768401T=CA1335895318UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1257T= (p.Asp419=)
c.1269T= (p.Asp423=)
c.1263T= (p.Asp421=)
c.1266T= (p.Asp422=)
c.462T= (p.Asp154=)
2g.233768402T>ACA351075069UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1258T>A (p.Leu420Ile)
c.1270T>A (p.Leu424Ile)
c.1264T>A (p.Leu422Ile)
c.1267T>A (p.Leu423Ile)
c.463T>A (p.Leu155Ile)
2g.233768402T>CCA431860290UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1258T>C (p.Leu420=)
c.1270T>C (p.Leu424=)
c.1264T>C (p.Leu422=)
c.1267T>C (p.Leu423=)
c.463T>C (p.Leu155=)
2g.233768402T>GCA351075070UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1258T>G (p.Leu420Val)
c.1270T>G (p.Leu424Val)
c.1264T>G (p.Leu422Val)
c.1267T>G (p.Leu423Val)
c.463T>G (p.Leu155Val)
2g.233768403T>ACA351075071UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1259T>A (p.Leu420Ter)
c.1271T>A (p.Leu424Ter)
c.1265T>A (p.Leu422Ter)
c.1268T>A (p.Leu423Ter)
c.464T>A (p.Leu155Ter)
2g.233768403T>CCA351075072UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1259T>C (p.Leu420Ser)
c.1271T>C (p.Leu424Ser)
c.1265T>C (p.Leu422Ser)
c.1268T>C (p.Leu423Ser)
c.464T>C (p.Leu155Ser)
2g.233768403T>GCA351075073UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1259T>G (p.Leu420Ter)
c.1271T>G (p.Leu424Ter)
c.1265T>G (p.Leu422Ter)
c.1268T>G (p.Leu423Ter)
c.464T>G (p.Leu155Ter)
2g.233768404A>CCA351075074UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1260A>C (p.Leu420Phe)
c.1272A>C (p.Leu424Phe)
c.1266A>C (p.Leu422Phe)
c.1269A>C (p.Leu423Phe)
c.465A>C (p.Leu155Phe)
2g.233768404A>GCA431860303UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1260A>G (p.Leu420=)
c.1272A>G (p.Leu424=)
c.1266A>G (p.Leu422=)
c.1269A>G (p.Leu423=)
c.465A>G (p.Leu155=)
2g.233768404A>TCA351075075UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1260A>T (p.Leu420Phe)
c.1272A>T (p.Leu424Phe)
c.1266A>T (p.Leu422Phe)
c.1269A>T (p.Leu423Phe)
c.465A>T (p.Leu155Phe)
2g.233768405G>ACA351075076UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1261G>A (p.Glu421Lys)
c.1273G>A (p.Glu425Lys)
c.1267G>A (p.Glu423Lys)
c.1270G>A (p.Glu424Lys)
c.466G>A (p.Glu156Lys)
2g.233768405G>CCA351075078UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1261G>C (p.Glu421Gln)
c.1273G>C (p.Glu425Gln)
c.1267G>C (p.Glu423Gln)
c.1270G>C (p.Glu424Gln)
c.466G>C (p.Glu156Gln)
2g.233768405G>TCA351075077UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1261G>T (p.Glu421Ter)
c.1273G>T (p.Glu425Ter)
c.1267G>T (p.Glu423Ter)
c.1270G>T (p.Glu424Ter)
c.466G>T (p.Glu156Ter)
ClinVar dbSNP
2g.233768406A>CCA351075079UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1262A>C (p.Glu421Ala)
c.1274A>C (p.Glu425Ala)
c.1268A>C (p.Glu423Ala)
c.1271A>C (p.Glu424Ala)
c.467A>C (p.Glu156Ala)
2g.233768406A>GCA351075080UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1262A>G (p.Glu421Gly)
c.1274A>G (p.Glu425Gly)
c.1268A>G (p.Glu423Gly)
c.1271A>G (p.Glu424Gly)
c.467A>G (p.Glu156Gly)
2g.233768406A>TCA351075081UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1262A>T (p.Glu421Val)
c.1274A>T (p.Glu425Val)
c.1268A>T (p.Glu423Val)
c.1271A>T (p.Glu424Val)
c.467A>T (p.Glu156Val)
2g.233768407A=CA1335895319UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1263A= (p.Glu421=)
c.1275A= (p.Glu425=)
c.1269A= (p.Glu423=)
c.1272A= (p.Glu424=)
c.468A= (p.Glu156=)
2g.233768407A>CCA351075083UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1263A>C (p.Glu421Asp)
c.1275A>C (p.Glu425Asp)
c.1269A>C (p.Glu423Asp)
c.1272A>C (p.Glu424Asp)
c.468A>C (p.Glu156Asp)
2g.233768407A>GCA431860318UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1263A>G (p.Glu421=)
c.1275A>G (p.Glu425=)
c.1269A>G (p.Glu423=)
c.1272A>G (p.Glu424=)
c.468A>G (p.Glu156=)
dbSNP
2g.233768407A>TCA351075084UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1263A>T (p.Glu421Asp)
c.1275A>T (p.Glu425Asp)
c.1269A>T (p.Glu423Asp)
c.1272A>T (p.Glu424Asp)
c.468A>T (p.Glu156Asp)
2g.233768408A>CCA351075085UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1264A>C (p.Asn422His)
c.1276A>C (p.Asn426His)
c.1270A>C (p.Asn424His)
c.1273A>C (p.Asn425His)
c.469A>C (p.Asn157His)
2g.233768408A>GCA351075086UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1264A>G (p.Asn422Asp)
c.1276A>G (p.Asn426Asp)
c.1270A>G (p.Asn424Asp)
c.1273A>G (p.Asn425Asp)
c.469A>G (p.Asn157Asp)
2g.233768408A>TCA351075087UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1264A>T (p.Asn422Tyr)
c.1276A>T (p.Asn426Tyr)
c.1270A>T (p.Asn424Tyr)
c.1273A>T (p.Asn425Tyr)
c.469A>T (p.Asn157Tyr)
2g.233768409A>CCA351075088UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1265A>C (p.Asn422Thr)
c.1277A>C (p.Asn426Thr)
c.1271A>C (p.Asn424Thr)
c.1274A>C (p.Asn425Thr)
c.470A>C (p.Asn157Thr)
2g.233768409A>GCA351075089UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1265A>G (p.Asn422Ser)
c.1277A>G (p.Asn426Ser)
c.1271A>G (p.Asn424Ser)
c.1274A>G (p.Asn425Ser)
c.470A>G (p.Asn157Ser)
gnomAD v4
2g.233768409A>TCA351075090UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1265A>T (p.Asn422Ile)
c.1277A>T (p.Asn426Ile)
c.1271A>T (p.Asn424Ile)
c.1274A>T (p.Asn425Ile)
c.470A>T (p.Asn157Ile)
2g.233768410T>ACA351075091UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1266T>A (p.Asn422Lys)
c.1278T>A (p.Asn426Lys)
c.1272T>A (p.Asn424Lys)
c.1275T>A (p.Asn425Lys)
c.471T>A (p.Asn157Lys)
2g.233768410T>CCA431860340UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1266T>C (p.Asn422=)
c.1278T>C (p.Asn426=)
c.1272T>C (p.Asn424=)
c.1275T>C (p.Asn425=)
c.471T>C (p.Asn157=)
dbSNP gnomAD v4
2g.233768410T>GCA351075092UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1266T>G (p.Asn422Lys)
c.1278T>G (p.Asn426Lys)
c.1272T>G (p.Asn424Lys)
c.1275T>G (p.Asn425Lys)
c.471T>G (p.Asn157Lys)
2g.233768410T=CA1335895320UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1266T= (p.Asn422=)
c.1278T= (p.Asn426=)
c.1272T= (p.Asn424=)
c.1275T= (p.Asn425=)
c.471T= (p.Asn157=)
2g.233768411G>ACA351075094UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1267G>A (p.Ala423Thr)
c.1279G>A (p.Ala427Thr)
c.1273G>A (p.Ala425Thr)
c.1276G>A (p.Ala426Thr)
c.472G>A (p.Ala158Thr)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768411G>CCA351075093UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1267G>C (p.Ala423Pro)
c.1279G>C (p.Ala427Pro)
c.1273G>C (p.Ala425Pro)
c.1276G>C (p.Ala426Pro)
c.472G>C (p.Ala158Pro)
2g.233768411G=CA1335895321UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1267G= (p.Ala423=)
c.1279G= (p.Ala427=)
c.1273G= (p.Ala425=)
c.1276G= (p.Ala426=)
c.472G= (p.Ala158=)
2g.233768411G>TCA2180042UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1267G>T (p.Ala423Ser)
c.1279G>T (p.Ala427Ser)
c.1273G>T (p.Ala425Ser)
c.1276G>T (p.Ala426Ser)
c.472G>T (p.Ala158Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768412C>ACA351075095UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1268C>A (p.Ala423Asp)
c.1280C>A (p.Ala427Asp)
c.1274C>A (p.Ala425Asp)
c.1277C>A (p.Ala426Asp)
c.473C>A (p.Ala158Asp)
2g.233768412C=CA1335895322UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1268C= (p.Ala423=)
c.1280C= (p.Ala427=)
c.1274C= (p.Ala425=)
c.1277C= (p.Ala426=)
c.473C= (p.Ala158=)
2g.233768412C>GCA351075096UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1268C>G (p.Ala423Gly)
c.1280C>G (p.Ala427Gly)
c.1274C>G (p.Ala425Gly)
c.1277C>G (p.Ala426Gly)
c.473C>G (p.Ala158Gly)
2g.233768412C>TCA2180043UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1268C>T (p.Ala423Val)
c.1280C>T (p.Ala427Val)
c.1274C>T (p.Ala425Val)
c.1277C>T (p.Ala426Val)
c.473C>T (p.Ala158Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768413T>ACA431860363UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1269T>A (p.Ala423=)
c.1281T>A (p.Ala427=)
c.1275T>A (p.Ala425=)
c.1278T>A (p.Ala426=)
c.474T>A (p.Ala158=)
2g.233768413T>CCA431860361UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1269T>C (p.Ala423=)
c.1281T>C (p.Ala427=)
c.1275T>C (p.Ala425=)
c.1278T>C (p.Ala426=)
c.474T>C (p.Ala158=)
2g.233768413T>GCA431860360UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1269T>G (p.Ala423=)
c.1281T>G (p.Ala427=)
c.1275T>G (p.Ala425=)
c.1278T>G (p.Ala426=)
c.474T>G (p.Ala158=)
2g.233768414C>ACA351075097UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1270C>A (p.Leu424Ile)
c.1282C>A (p.Leu428Ile)
c.1276C>A (p.Leu426Ile)
c.1279C>A (p.Leu427Ile)
c.475C>A (p.Leu159Ile)
2g.233768414C=CA1335895323UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1270C= (p.Leu424=)
c.1282C= (p.Leu428=)
c.1276C= (p.Leu426=)
c.1279C= (p.Leu427=)
c.475C= (p.Leu159=)
2g.233768414C>GCA351075098UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1270C>G (p.Leu424Val)
c.1282C>G (p.Leu428Val)
c.1276C>G (p.Leu426Val)
c.1279C>G (p.Leu427Val)
c.475C>G (p.Leu159Val)
2g.233768414C>TCA67596508UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1270C>T (p.Leu424=)
c.1282C>T (p.Leu428=)
c.1276C>T (p.Leu426=)
c.1279C>T (p.Leu427=)
c.475C>T (p.Leu159=)
dbSNP
2g.233768415T>ACA351075099UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1271T>A (p.Leu424Gln)
c.1283T>A (p.Leu428Gln)
c.1277T>A (p.Leu426Gln)
c.1280T>A (p.Leu427Gln)
c.476T>A (p.Leu159Gln)
2g.233768415T>CCA351075100UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1271T>C (p.Leu424Pro)
c.1283T>C (p.Leu428Pro)
c.1277T>C (p.Leu426Pro)
c.1280T>C (p.Leu427Pro)
c.476T>C (p.Leu159Pro)
2g.233768415T>GCA351075101UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1271T>G (p.Leu424Arg)
c.1283T>G (p.Leu428Arg)
c.1277T>G (p.Leu426Arg)
c.1280T>G (p.Leu427Arg)
c.476T>G (p.Leu159Arg)
2g.233768416A>CCA431860383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1272A>C (p.Leu424=)
c.1284A>C (p.Leu428=)
c.1278A>C (p.Leu426=)
c.1281A>C (p.Leu427=)
c.477A>C (p.Leu159=)
2g.233768416A>GCA431860380UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1272A>G (p.Leu424=)
c.1284A>G (p.Leu428=)
c.1278A>G (p.Leu426=)
c.1281A>G (p.Leu427=)
c.477A>G (p.Leu159=)
2g.233768416A>TCA431860385UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1272A>T (p.Leu424=)
c.1284A>T (p.Leu428=)
c.1278A>T (p.Leu426=)
c.1281A>T (p.Leu427=)
c.477A>T (p.Leu159=)
2g.233768417A=CA1335895324UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1273A= (p.Lys425=)
c.1285A= (p.Lys429=)
c.1279A= (p.Lys427=)
c.1282A= (p.Lys428=)
c.478A= (p.Lys160=)
2g.233768417A>CCA351075102UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1273A>C (p.Lys425Gln)
c.1285A>C (p.Lys429Gln)
c.1279A>C (p.Lys427Gln)
c.1282A>C (p.Lys428Gln)
c.478A>C (p.Lys160Gln)
2g.233768417A>GCA67596509UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1273A>G (p.Lys425Glu)
c.1285A>G (p.Lys429Glu)
c.1279A>G (p.Lys427Glu)
c.1282A>G (p.Lys428Glu)
c.478A>G (p.Lys160Glu)
dbSNP
2g.233768417A>TCA351075103UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1273A>T (p.Lys425Ter)
c.1285A>T (p.Lys429Ter)
c.1279A>T (p.Lys427Ter)
c.1282A>T (p.Lys428Ter)
c.478A>T (p.Lys160Ter)
2g.233768418A=CA1335895325UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1274A= (p.Lys425=)
c.1286A= (p.Lys429=)
c.1280A= (p.Lys427=)
c.1283A= (p.Lys428=)
c.479A= (p.Lys160=)
2g.233768418A>CCA351075106UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1274A>C (p.Lys425Thr)
c.1286A>C (p.Lys429Thr)
c.1280A>C (p.Lys427Thr)
c.1283A>C (p.Lys428Thr)
c.479A>C (p.Lys160Thr)
2g.233768418A>GCA351075105UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1274A>G (p.Lys425Arg)
c.1286A>G (p.Lys429Arg)
c.1280A>G (p.Lys427Arg)
c.1283A>G (p.Lys428Arg)
c.479A>G (p.Lys160Arg)
dbSNP
2g.233768418A>TCA351075104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1274A>T (p.Lys425Ile)
c.1286A>T (p.Lys429Ile)
c.1280A>T (p.Lys427Ile)
c.1283A>T (p.Lys428Ile)
c.479A>T (p.Lys160Ile)
2g.233768419A=CA1335895326UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1275A= (p.Lys425=)
c.1287A= (p.Lys429=)
c.1281A= (p.Lys427=)
c.1284A= (p.Lys428=)
c.480A= (p.Lys160=)
2g.233768419A>CCA351075107UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1275A>C (p.Lys425Asn)
c.1287A>C (p.Lys429Asn)
c.1281A>C (p.Lys427Asn)
c.1284A>C (p.Lys428Asn)
c.480A>C (p.Lys160Asn)
2g.233768419A>GCA2180044UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1275A>G (p.Lys425=)
c.1287A>G (p.Lys429=)
c.1281A>G (p.Lys427=)
c.1284A>G (p.Lys428=)
c.480A>G (p.Lys160=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768419A>TCA351075108UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1275A>T (p.Lys425Asn)
c.1287A>T (p.Lys429Asn)
c.1281A>T (p.Lys427Asn)
c.1284A>T (p.Lys428Asn)
c.480A>T (p.Lys160Asn)
2g.233768420G>ACA351075109UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1276G>A (p.Ala426Thr)
c.1288G>A (p.Ala430Thr)
c.1282G>A (p.Ala428Thr)
c.1285G>A (p.Ala429Thr)
c.481G>A (p.Ala161Thr)
gnomAD v4
2g.233768420G>CCA351075111UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1276G>C (p.Ala426Pro)
c.1288G>C (p.Ala430Pro)
c.1282G>C (p.Ala428Pro)
c.1285G>C (p.Ala429Pro)
c.481G>C (p.Ala161Pro)
2g.233768420G>TCA351075110UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1276G>T (p.Ala426Ser)
c.1288G>T (p.Ala430Ser)
c.1282G>T (p.Ala428Ser)
c.1285G>T (p.Ala429Ser)
c.481G>T (p.Ala161Ser)
2g.233768421C>ACA351075112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1277C>A (p.Ala426Glu)
c.1289C>A (p.Ala430Glu)
c.1283C>A (p.Ala428Glu)
c.1286C>A (p.Ala429Glu)
c.482C>A (p.Ala161Glu)
2g.233768421C>GCA351075114UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1277C>G (p.Ala426Gly)
c.1289C>G (p.Ala430Gly)
c.1283C>G (p.Ala428Gly)
c.1286C>G (p.Ala429Gly)
c.482C>G (p.Ala161Gly)
2g.233768421C>TCA351075113UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1277C>T (p.Ala426Val)
c.1289C>T (p.Ala430Val)
c.1283C>T (p.Ala428Val)
c.1286C>T (p.Ala429Val)
c.482C>T (p.Ala161Val)
2g.233768422A>CCA431860424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1278A>C (p.Ala426=)
c.1290A>C (p.Ala430=)
c.1284A>C (p.Ala428=)
c.1287A>C (p.Ala429=)
c.483A>C (p.Ala161=)
2g.233768422A>GCA431860422UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1278A>G (p.Ala426=)
c.1290A>G (p.Ala430=)
c.1284A>G (p.Ala428=)
c.1287A>G (p.Ala429=)
c.483A>G (p.Ala161=)
2g.233768422A>TCA431860427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1278A>T (p.Ala426=)
c.1290A>T (p.Ala430=)
c.1284A>T (p.Ala428=)
c.1287A>T (p.Ala429=)
c.483A>T (p.Ala161=)
2g.233768423G>ACA351075115UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1279G>A (p.Val427Ile)
c.1291G>A (p.Val431Ile)
c.1285G>A (p.Val429Ile)
c.1288G>A (p.Val430Ile)
c.484G>A (p.Val162Ile)
gnomAD v4
2g.233768423G>CCA351075117UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1279G>C (p.Val427Leu)
c.1291G>C (p.Val431Leu)
c.1285G>C (p.Val429Leu)
c.1288G>C (p.Val430Leu)
c.484G>C (p.Val162Leu)
gnomAD v4
2g.233768423G>TCA351075116UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1279G>T (p.Val427Phe)
c.1291G>T (p.Val431Phe)
c.1285G>T (p.Val429Phe)
c.1288G>T (p.Val430Phe)
c.484G>T (p.Val162Phe)
2g.233768424T>ACA351075118UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1280T>A (p.Val427Asp)
c.1292T>A (p.Val431Asp)
c.1286T>A (p.Val429Asp)
c.1289T>A (p.Val430Asp)
c.485T>A (p.Val162Asp)
2g.233768424T>CCA351075119UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1280T>C (p.Val427Ala)
c.1292T>C (p.Val431Ala)
c.1286T>C (p.Val429Ala)
c.1289T>C (p.Val430Ala)
c.485T>C (p.Val162Ala)
2g.233768424T>GCA351075120UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1280T>G (p.Val427Gly)
c.1292T>G (p.Val431Gly)
c.1286T>G (p.Val429Gly)
c.1289T>G (p.Val430Gly)
c.485T>G (p.Val162Gly)
2g.233768425C>ACA67596510UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1281C>A (p.Val427=)
c.1293C>A (p.Val431=)
c.1287C>A (p.Val429=)
c.1290C>A (p.Val430=)
c.486C>A (p.Val162=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233768425C=CA1335895327UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1281C= (p.Val427=)
c.1293C= (p.Val431=)
c.1287C= (p.Val429=)
c.1290C= (p.Val430=)
c.486C= (p.Val162=)
2g.233768425C>GCA431860443UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1281C>G (p.Val427=)
c.1293C>G (p.Val431=)
c.1287C>G (p.Val429=)
c.1290C>G (p.Val430=)
c.486C>G (p.Val162=)
2g.233768425C>TCA431860447UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1281C>T (p.Val427=)
c.1293C>T (p.Val431=)
c.1287C>T (p.Val429=)
c.1290C>T (p.Val430=)
c.486C>T (p.Val162=)
dbSNP gnomAD v2 gnomAD v4
2g.233768426A=CA1335895328UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1282A= (p.Ile428=)
c.1294A= (p.Ile432=)
c.1288A= (p.Ile430=)
c.1291A= (p.Ile431=)
c.487A= (p.Ile163=)
2g.233768426A>CCA351075121UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1282A>C (p.Ile428Leu)
c.1294A>C (p.Ile432Leu)
c.1288A>C (p.Ile430Leu)
c.1291A>C (p.Ile431Leu)
c.487A>C (p.Ile163Leu)
2g.233768426A>GCA351075122UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1282A>G (p.Ile428Val)
c.1294A>G (p.Ile432Val)
c.1288A>G (p.Ile430Val)
c.1291A>G (p.Ile431Val)
c.487A>G (p.Ile163Val)
dbSNP gnomAD v4
2g.233768426A>TCA351075123UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1282A>T (p.Ile428Phe)
c.1294A>T (p.Ile432Phe)
c.1288A>T (p.Ile430Phe)
c.1291A>T (p.Ile431Phe)
c.487A>T (p.Ile163Phe)
2g.233768427T>ACA351075124UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1283T>A (p.Ile428Asn)
c.1295T>A (p.Ile432Asn)
c.1289T>A (p.Ile430Asn)
c.1292T>A (p.Ile431Asn)
c.488T>A (p.Ile163Asn)
gnomAD v4
2g.233768427T>CCA351075125UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1283T>C (p.Ile428Thr)
c.1295T>C (p.Ile432Thr)
c.1289T>C (p.Ile430Thr)
c.1292T>C (p.Ile431Thr)
c.488T>C (p.Ile163Thr)
2g.233768427T>GCA351075126UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1283T>G (p.Ile428Ser)
c.1295T>G (p.Ile432Ser)
c.1289T>G (p.Ile430Ser)
c.1292T>G (p.Ile431Ser)
c.488T>G (p.Ile163Ser)
2g.233768428C>ACA431860461UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1284C>A (p.Ile428=)
c.1296C>A (p.Ile432=)
c.1290C>A (p.Ile430=)
c.1293C>A (p.Ile431=)
c.489C>A (p.Ile163=)
2g.233768428C=CA1335895329UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1284C= (p.Ile428=)
c.1296C= (p.Ile432=)
c.1290C= (p.Ile430=)
c.1293C= (p.Ile431=)
c.489C= (p.Ile163=)
2g.233768428C>GCA351075127UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1284C>G (p.Ile428Met)
c.1296C>G (p.Ile432Met)
c.1290C>G (p.Ile430Met)
c.1293C>G (p.Ile431Met)
c.489C>G (p.Ile163Met)
2g.233768428C>TCA431860463UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1284C>T (p.Ile428=)
c.1296C>T (p.Ile432=)
c.1290C>T (p.Ile430=)
c.1293C>T (p.Ile431=)
c.489C>T (p.Ile163=)
dbSNP gnomAD v4
2g.233768429A=CA1335895330UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1285A= (p.Asn429=)
c.1297A= (p.Asn433=)
c.1291A= (p.Asn431=)
c.1294A= (p.Asn432=)
c.490A= (p.Asn164=)
2g.233768429A>CCA351075130UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1285A>C (p.Asn429His)
c.1297A>C (p.Asn433His)
c.1291A>C (p.Asn431His)
c.1294A>C (p.Asn432His)
c.490A>C (p.Asn164His)
2g.233768429A>GCA351075129UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1285A>G (p.Asn429Asp)
c.1297A>G (p.Asn433Asp)
c.1291A>G (p.Asn431Asp)
c.1294A>G (p.Asn432Asp)
c.490A>G (p.Asn164Asp)
dbSNP gnomAD v4
2g.233768429A>TCA351075128UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1285A>T (p.Asn429Tyr)
c.1297A>T (p.Asn433Tyr)
c.1291A>T (p.Asn431Tyr)
c.1294A>T (p.Asn432Tyr)
c.490A>T (p.Asn164Tyr)
2g.233768430A>CCA351075131UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1286A>C (p.Asn429Thr)
c.1298A>C (p.Asn433Thr)
c.1292A>C (p.Asn431Thr)
c.1295A>C (p.Asn432Thr)
c.491A>C (p.Asn164Thr)
2g.233768430A>GCA351075132UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1286A>G (p.Asn429Ser)
c.1298A>G (p.Asn433Ser)
c.1292A>G (p.Asn431Ser)
c.1295A>G (p.Asn432Ser)
c.491A>G (p.Asn164Ser)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768430A>TCA351075133UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1286A>T (p.Asn429Ile)
c.1298A>T (p.Asn433Ile)
c.1292A>T (p.Asn431Ile)
c.1295A>T (p.Asn432Ile)
c.491A>T (p.Asn164Ile)
2g.233768431T>ACA351075134UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1287T>A (p.Asn429Lys)
c.1299T>A (p.Asn433Lys)
c.1293T>A (p.Asn431Lys)
c.1296T>A (p.Asn432Lys)
c.492T>A (p.Asn164Lys)
2g.233768431T>CCA2180045UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1287T>C (p.Asn429=)
c.1299T>C (p.Asn433=)
c.1293T>C (p.Asn431=)
c.1296T>C (p.Asn432=)
c.492T>C (p.Asn164=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768431T>GCA351075135UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1287T>G (p.Asn429Lys)
c.1299T>G (p.Asn433Lys)
c.1293T>G (p.Asn431Lys)
c.1296T>G (p.Asn432Lys)
c.492T>G (p.Asn164Lys)
2g.233768431T=CA1335895331UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1287T= (p.Asn429=)
c.1299T= (p.Asn433=)
c.1293T= (p.Asn431=)
c.1296T= (p.Asn432=)
c.492T= (p.Asn164=)
2g.233768432G>ACA351075136UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1288G>A (p.Asp430Asn)
c.1300G>A (p.Asp434Asn)
c.1294G>A (p.Asp432Asn)
c.1297G>A (p.Asp433Asn)
c.493G>A (p.Asp165Asn)
2g.233768432G>CCA351075137UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1288G>C (p.Asp430His)
c.1300G>C (p.Asp434His)
c.1294G>C (p.Asp432His)
c.1297G>C (p.Asp433His)
c.493G>C (p.Asp165His)
gnomAD v4
2g.233768432G>TCA351075138UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1288G>T (p.Asp430Tyr)
c.1300G>T (p.Asp434Tyr)
c.1294G>T (p.Asp432Tyr)
c.1297G>T (p.Asp433Tyr)
c.493G>T (p.Asp165Tyr)
2g.233768433A>CCA351075139UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1289A>C (p.Asp430Ala)
c.1301A>C (p.Asp434Ala)
c.1295A>C (p.Asp432Ala)
c.1298A>C (p.Asp433Ala)
c.494A>C (p.Asp165Ala)
2g.233768433A>GCA351075140UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1289A>G (p.Asp430Gly)
c.1301A>G (p.Asp434Gly)
c.1295A>G (p.Asp432Gly)
c.1298A>G (p.Asp433Gly)
c.494A>G (p.Asp165Gly)
2g.233768433A>TCA351075141UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1289A>T (p.Asp430Val)
c.1301A>T (p.Asp434Val)
c.1295A>T (p.Asp432Val)
c.1298A>T (p.Asp433Val)
c.494A>T (p.Asp165Val)
2g.233768434C>ACA2180046UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1290C>A (p.Asp430Glu)
c.1302C>A (p.Asp434Glu)
c.1296C>A (p.Asp432Glu)
c.1299C>A (p.Asp433Glu)
c.495C>A (p.Asp165Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768434C=CA1335895332UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1290C= (p.Asp430=)
c.1302C= (p.Asp434=)
c.1296C= (p.Asp432=)
c.1299C= (p.Asp433=)
c.495C= (p.Asp165=)
2g.233768434C>GCA351075142UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1290C>G (p.Asp430Glu)
c.1302C>G (p.Asp434Glu)
c.1296C>G (p.Asp432Glu)
c.1299C>G (p.Asp433Glu)
c.495C>G (p.Asp165Glu)
2g.233768434C>TCA431860495UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1290C>T (p.Asp430=)
c.1302C>T (p.Asp434=)
c.1296C>T (p.Asp432=)
c.1299C>T (p.Asp433=)
c.495C>T (p.Asp165=)
2g.233768435A=CA1335895333UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1291A= (p.Lys431=)
c.1303A= (p.Lys435=)
c.1297A= (p.Lys433=)
c.1300A= (p.Lys434=)
c.496A= (p.Lys166=)
2g.233768435A>CCA351075143UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1291A>C (p.Lys431Gln)
c.1303A>C (p.Lys435Gln)
c.1297A>C (p.Lys433Gln)
c.1300A>C (p.Lys434Gln)
c.496A>C (p.Lys166Gln)
2g.233768435A>GCA351075144UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1291A>G (p.Lys431Glu)
c.1303A>G (p.Lys435Glu)
c.1297A>G (p.Lys433Glu)
c.1300A>G (p.Lys434Glu)
c.496A>G (p.Lys166Glu)
dbSNP gnomAD v4
2g.233768435A>TCA351075145UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1291A>T (p.Lys431Ter)
c.1303A>T (p.Lys435Ter)
c.1297A>T (p.Lys433Ter)
c.1300A>T (p.Lys434Ter)
c.496A>T (p.Lys166Ter)
2g.233768438dupCA540072440UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1294dup (p.Ser432LysfsTer?)
c.1306dup (p.Ser436LysfsTer?)
c.1300dup (p.Ser434LysfsTer?)
c.1303dup (p.Ser435LysfsTer?)
c.1303dup (p.Arg435LysfsTer19)
c.499dup (p.Ser167LysfsTer?)
c.1294dup (p.Arg432LysfsTer19)
c.499dup (p.Arg167LysfsTer19)
c.1306dup (p.Arg436LysfsTer19)
dbSNP gnomAD v2 gnomAD v4
2g.233768436A>CCA351075146UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1292A>C (p.Lys431Thr)
c.1304A>C (p.Lys435Thr)
c.1298A>C (p.Lys433Thr)
c.1301A>C (p.Lys434Thr)
c.497A>C (p.Lys166Thr)
2g.233768436A>GCA351075147UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1292A>G (p.Lys431Arg)
c.1304A>G (p.Lys435Arg)
c.1298A>G (p.Lys433Arg)
c.1301A>G (p.Lys434Arg)
c.497A>G (p.Lys166Arg)
2g.233768436A>TCA351075148UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1292A>T (p.Lys431Ile)
c.1304A>T (p.Lys435Ile)
c.1298A>T (p.Lys433Ile)
c.1301A>T (p.Lys434Ile)
c.497A>T (p.Lys166Ile)
2g.233768437A=CA1335895334UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1293A= (p.Lys431=)
c.1305A= (p.Lys435=)
c.1299A= (p.Lys433=)
c.1302A= (p.Lys434=)
c.498A= (p.Lys166=)
2g.233768437A>CCA351075150UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1293A>C (p.Lys431Asn)
c.1305A>C (p.Lys435Asn)
c.1299A>C (p.Lys433Asn)
c.1302A>C (p.Lys434Asn)
c.498A>C (p.Lys166Asn)
dbSNP
2g.233768437A>GCA431860523UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1293A>G (p.Lys431=)
c.1305A>G (p.Lys435=)
c.1299A>G (p.Lys433=)
c.1302A>G (p.Lys434=)
c.498A>G (p.Lys166=)
2g.233768437A>TCA351075149UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1293A>T (p.Lys431Asn)
c.1305A>T (p.Lys435Asn)
c.1299A>T (p.Lys433Asn)
c.1302A>T (p.Lys434Asn)
c.498A>T (p.Lys166Asn)
2g.233768438A>CCA351075151UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1294A>C (p.Ser432Arg)
c.1306A>C (p.Ser436Arg)
c.1300A>C (p.Ser434Arg)
c.1303A>C (p.Ser435Arg)
c.1303A>C (p.Arg435=)
c.499A>C (p.Ser167Arg)
c.1294A>C (p.Arg432=)
c.499A>C (p.Arg167=)
c.1306A>C (p.Arg436=)
2g.233768438A>GCA351075152UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1294A>G (p.Ser432Gly)
c.1306A>G (p.Ser436Gly)
c.1300A>G (p.Ser434Gly)
c.1303A>G (p.Ser435Gly)
c.1303A>G (p.Arg435Gly)
c.499A>G (p.Ser167Gly)
c.1294A>G (p.Arg432Gly)
c.499A>G (p.Arg167Gly)
c.1306A>G (p.Arg436Gly)
2g.233768438A>TCA351075153UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1294A>T (p.Ser432Cys)
c.1306A>T (p.Ser436Cys)
c.1300A>T (p.Ser434Cys)
c.1303A>T (p.Ser435Cys)
c.1303A>T (p.Arg435Ter)
c.499A>T (p.Ser167Cys)
c.1294A>T (p.Arg432Ter)
c.499A>T (p.Arg167Ter)
c.1306A>T (p.Arg436Ter)
2g.233768439G>ACA351075154UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1295G>A (p.Ser432Asn)
c.1307G>A (p.Ser436Asn)
c.1301G>A (p.Ser434Asn)
c.1304G>A (p.Ser435Asn)
c.1304G>A (p.Arg435Lys)
c.500G>A (p.Ser167Asn)
c.1295G>A (p.Arg432Lys)
c.500G>A (p.Arg167Lys)
c.1307G>A (p.Arg436Lys)
dbSNP gnomAD v4
2g.233768439G>CCA351075155UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1295G>C (p.Ser432Thr)
c.1307G>C (p.Ser436Thr)
c.1301G>C (p.Ser434Thr)
c.1304G>C (p.Ser435Thr)
c.1304G>C (p.Arg435Thr)
c.500G>C (p.Ser167Thr)
c.1295G>C (p.Arg432Thr)
c.500G>C (p.Arg167Thr)
c.1307G>C (p.Arg436Thr)
dbSNP gnomAD v2 gnomAD v4
2g.233768439G=CA1335895335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1295G= (p.Ser432=)
c.1307G= (p.Ser436=)
c.1301G= (p.Ser434=)
c.1304G= (p.Ser435=)
c.1304G= (p.Arg435=)
c.500G= (p.Ser167=)
c.1295G= (p.Arg432=)
c.500G= (p.Arg167=)
c.1307G= (p.Arg436=)
2g.233768439G>TCA351075156UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1295G>T (p.Ser432Ile)
c.1307G>T (p.Ser436Ile)
c.1301G>T (p.Ser434Ile)
c.1304G>T (p.Ser435Ile)
c.1304G>T (p.Arg435Ile)
c.500G>T (p.Ser167Ile)
c.1295G>T (p.Arg432Ile)
c.500G>T (p.Arg167Ile)
c.1307G>T (p.Arg436Ile)
dbSNP gnomAD v3 gnomAD v4
2g.233768439_233768440insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGATCA2830535399UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1295_1295+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT (n.1295_1295+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT)
c.1307_1307+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT (n.1307_1307+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT)
c.1301_1301+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT (n.1301_1301+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT)
c.1304_1304+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT (n.1304_1304+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT)
c.500_500+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT (n.500_500+1insTATTCTTCTGTATCTTCTTTCTTACCTTTTGTCATTGAT)
2g.233768440G>ACA351075157UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1295+1G>A (n.1295+1G>A)
c.1307+1G>A (n.1307+1G>A)
c.1301+1G>A (n.1301+1G>A)
c.1304+1G>A (n.1304+1G>A)
c.500+1G>A (n.500+1G>A)
2g.233768440G>CCA351075159UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1295+1G>C (n.1295+1G>C)
c.1307+1G>C (n.1307+1G>C)
c.1301+1G>C (n.1301+1G>C)
c.1304+1G>C (n.1304+1G>C)
c.500+1G>C (n.500+1G>C)
2g.233768440G>TCA351075158UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1295+1G>T (n.1295+1G>T)
c.1307+1G>T (n.1307+1G>T)
c.1301+1G>T (n.1301+1G>T)
c.1304+1G>T (n.1304+1G>T)
c.500+1G>T (n.500+1G>T)
ClinVar dbSNP gnomAD v4

Number of alleles fetched