Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233768241_233768279delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCACA1335895245UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1097_1135delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe366=)
c.1109_1147delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe370=)
c.1103_1141delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe368=)
c.1106_1144delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe369=)
c.302_340delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe101=)
2g.233768245_233768282delCA1335895246UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233768244_233768285delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCACA1335895249UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1100_1141delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile367=)
c.1112_1153delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile371=)
c.1106_1147delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile369=)
c.1109_1150delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile370=)
c.305_346delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile102=)
2g.233768245_233768285delinsGCCA913189478UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233768253_233768285delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCACA1335895252UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1109_1141delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala370=)
c.1121_1153delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala374=)
c.1115_1147delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala372=)
c.1118_1150delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala373=)
c.314_346delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala105=)
2g.233768254_233768285delCA1043571376UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233768268_233768302dupCA1043571392UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233768270delCA2663717384UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1126del (p.Tyr376MetfsTer11)
c.1138del (p.Tyr380MetfsTer11)
c.1132del (p.Tyr378MetfsTer11)
c.1135del (p.Tyr379MetfsTer11)
c.331del (p.Tyr111MetfsTer11)
gnomAD v4
2g.233768269T>ACA431858498UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1125T>A (p.Val375=)
c.1137T>A (p.Val379=)
c.1131T>A (p.Val377=)
c.1134T>A (p.Val378=)
c.330T>A (p.Val110=)
2g.233768269T>CCA431858492UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1125T>C (p.Val375=)
c.1137T>C (p.Val379=)
c.1131T>C (p.Val377=)
c.1134T>C (p.Val378=)
c.330T>C (p.Val110=)
2g.233768269T>GCA431858496UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1125T>G (p.Val375=)
c.1137T>G (p.Val379=)
c.1131T>G (p.Val377=)
c.1134T>G (p.Val378=)
c.330T>G (p.Val110=)
2g.233768270T>ACA351073985UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1126T>A (p.Tyr376Asn)
c.1138T>A (p.Tyr380Asn)
c.1132T>A (p.Tyr378Asn)
c.1135T>A (p.Tyr379Asn)
c.331T>A (p.Tyr111Asn)
2g.233768270T>CCA351073988UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1126T>C (p.Tyr376His)
c.1138T>C (p.Tyr380His)
c.1132T>C (p.Tyr378His)
c.1135T>C (p.Tyr379His)
c.331T>C (p.Tyr111His)
2g.233768270T>GCA351073990UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1126T>G (p.Tyr376Asp)
c.1138T>G (p.Tyr380Asp)
c.1132T>G (p.Tyr378Asp)
c.1135T>G (p.Tyr379Asp)
c.331T>G (p.Tyr111Asp)
2g.233768271A>CCA351074001UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1127A>C (p.Tyr376Ser)
c.1139A>C (p.Tyr380Ser)
c.1133A>C (p.Tyr378Ser)
c.1136A>C (p.Tyr379Ser)
c.332A>C (p.Tyr111Ser)
2g.233768271A>GCA351073993UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1127A>G (p.Tyr376Cys)
c.1139A>G (p.Tyr380Cys)
c.1133A>G (p.Tyr378Cys)
c.1136A>G (p.Tyr379Cys)
c.332A>G (p.Tyr111Cys)
2g.233768271A>TCA351073997UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1127A>T (p.Tyr376Phe)
c.1139A>T (p.Tyr380Phe)
c.1133A>T (p.Tyr378Phe)
c.1136A>T (p.Tyr379Phe)
c.332A>T (p.Tyr111Phe)
2g.233768272T>ACA351074003UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1128T>A (p.Tyr376Ter)
c.1140T>A (p.Tyr380Ter)
c.1134T>A (p.Tyr378Ter)
c.1137T>A (p.Tyr379Ter)
c.333T>A (p.Tyr111Ter)
2g.233768272T>CCA431858520UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1128T>C (p.Tyr376=)
c.1140T>C (p.Tyr380=)
c.1134T>C (p.Tyr378=)
c.1137T>C (p.Tyr379=)
c.333T>C (p.Tyr111=)
gnomAD v4
2g.233768272T>GCA351074006UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1128T>G (p.Tyr376Ter)
c.1140T>G (p.Tyr380Ter)
c.1134T>G (p.Tyr378Ter)
c.1137T>G (p.Tyr379Ter)
c.333T>G (p.Tyr111Ter)
2g.233768273G>ACA351074010UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1129G>A (p.Glu377Lys)
c.1141G>A (p.Glu381Lys)
c.1135G>A (p.Glu379Lys)
c.1138G>A (p.Glu380Lys)
c.334G>A (p.Glu112Lys)
2g.233768273G>CCA351074012UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1129G>C (p.Glu377Gln)
c.1141G>C (p.Glu381Gln)
c.1135G>C (p.Glu379Gln)
c.1138G>C (p.Glu380Gln)
c.334G>C (p.Glu112Gln)
2g.233768273G>TCA351074016UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1129G>T (p.Glu377Ter)
c.1141G>T (p.Glu381Ter)
c.1135G>T (p.Glu379Ter)
c.1138G>T (p.Glu380Ter)
c.334G>T (p.Glu112Ter)
2g.233768274A=CA1335895261UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1130A= (p.Glu377=)
c.1142A= (p.Glu381=)
c.1136A= (p.Glu379=)
c.1139A= (p.Glu380=)
c.335A= (p.Glu112=)
2g.233768274A>CCA351074018UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1130A>C (p.Glu377Ala)
c.1142A>C (p.Glu381Ala)
c.1136A>C (p.Glu379Ala)
c.1139A>C (p.Glu380Ala)
c.335A>C (p.Glu112Ala)
2g.233768274A>GCA351074019UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1130A>G (p.Glu377Gly)
c.1142A>G (p.Glu381Gly)
c.1136A>G (p.Glu379Gly)
c.1139A>G (p.Glu380Gly)
c.335A>G (p.Glu112Gly)
dbSNP
2g.233768274A>TCA351074021UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1130A>T (p.Glu377Val)
c.1142A>T (p.Glu381Val)
c.1136A>T (p.Glu379Val)
c.1139A>T (p.Glu380Val)
c.335A>T (p.Glu112Val)
2g.233768275A>CCA351074025UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1131A>C (p.Glu377Asp)
c.1143A>C (p.Glu381Asp)
c.1137A>C (p.Glu379Asp)
c.1140A>C (p.Glu380Asp)
c.336A>C (p.Glu112Asp)
2g.233768275A>GCA431858546UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1131A>G (p.Glu377=)
c.1143A>G (p.Glu381=)
c.1137A>G (p.Glu379=)
c.1140A>G (p.Glu380=)
c.336A>G (p.Glu112=)
2g.233768275A>TCA351074028UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1131A>T (p.Glu377Asp)
c.1143A>T (p.Glu381Asp)
c.1137A>T (p.Glu379Asp)
c.1140A>T (p.Glu380Asp)
c.336A>T (p.Glu112Asp)
2g.233768276A=CA1335895262UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1132A= (p.Ser378=)
c.1144A= (p.Ser382=)
c.1138A= (p.Ser380=)
c.1141A= (p.Ser381=)
c.337A= (p.Ser113=)
2g.233768276A>CCA351074031UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1132A>C (p.Ser378Arg)
c.1144A>C (p.Ser382Arg)
c.1138A>C (p.Ser380Arg)
c.1141A>C (p.Ser381Arg)
c.337A>C (p.Ser113Arg)
2g.233768276A>GCA351074033UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1132A>G (p.Ser378Gly)
c.1144A>G (p.Ser382Gly)
c.1138A>G (p.Ser380Gly)
c.1141A>G (p.Ser381Gly)
c.337A>G (p.Ser113Gly)
2g.233768276A>TCA2180016UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1132A>T (p.Ser378Cys)
c.1144A>T (p.Ser382Cys)
c.1138A>T (p.Ser380Cys)
c.1141A>T (p.Ser381Cys)
c.337A>T (p.Ser113Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768277G>ACA351074035UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1133G>A (p.Ser378Asn)
c.1145G>A (p.Ser382Asn)
c.1139G>A (p.Ser380Asn)
c.1142G>A (p.Ser381Asn)
c.338G>A (p.Ser113Asn)
2g.233768277G>CCA351074037UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1133G>C (p.Ser378Thr)
c.1145G>C (p.Ser382Thr)
c.1139G>C (p.Ser380Thr)
c.1142G>C (p.Ser381Thr)
c.338G>C (p.Ser113Thr)
2g.233768277G>TCA351074044UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1133G>T (p.Ser378Ile)
c.1145G>T (p.Ser382Ile)
c.1139G>T (p.Ser380Ile)
c.1142G>T (p.Ser381Ile)
c.338G>T (p.Ser113Ile)
2g.233768278C>ACA351074051UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1134C>A (p.Ser378Arg)
c.1146C>A (p.Ser382Arg)
c.1140C>A (p.Ser380Arg)
c.1143C>A (p.Ser381Arg)
c.339C>A (p.Ser113Arg)
2g.233768278C=CA1335895263UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1134C= (p.Ser378=)
c.1146C= (p.Ser382=)
c.1140C= (p.Ser380=)
c.1143C= (p.Ser381=)
c.339C= (p.Ser113=)
2g.233768278C>GCA67596254UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1134C>G (p.Ser378Arg)
c.1146C>G (p.Ser382Arg)
c.1140C>G (p.Ser380Arg)
c.1143C>G (p.Ser381Arg)
c.339C>G (p.Ser113Arg)
dbSNP
2g.233768278C>TCA431858582UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1134C>T (p.Ser378=)
c.1146C>T (p.Ser382=)
c.1140C>T (p.Ser380=)
c.1143C>T (p.Ser381=)
c.339C>T (p.Ser113=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233768279A>CCA351074058UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1135A>C (p.Ile379Leu)
c.1147A>C (p.Ile383Leu)
c.1141A>C (p.Ile381Leu)
c.1144A>C (p.Ile382Leu)
c.340A>C (p.Ile114Leu)
2g.233768279A>GCA351074068UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1135A>G (p.Ile379Val)
c.1147A>G (p.Ile383Val)
c.1141A>G (p.Ile381Val)
c.1144A>G (p.Ile382Val)
c.340A>G (p.Ile114Val)
2g.233768279A>TCA351074070UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1135A>T (p.Ile379Leu)
c.1147A>T (p.Ile383Leu)
c.1141A>T (p.Ile381Leu)
c.1144A>T (p.Ile382Leu)
c.340A>T (p.Ile114Leu)
2g.233768280T>ACA351074071UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1136T>A (p.Ile379Lys)
c.1148T>A (p.Ile383Lys)
c.1142T>A (p.Ile381Lys)
c.1145T>A (p.Ile382Lys)
c.341T>A (p.Ile114Lys)
2g.233768280T>CCA351074072UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1136T>C (p.Ile379Thr)
c.1148T>C (p.Ile383Thr)
c.1142T>C (p.Ile381Thr)
c.1145T>C (p.Ile382Thr)
c.341T>C (p.Ile114Thr)
2g.233768280T>GCA351074073UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1136T>G (p.Ile379Arg)
c.1148T>G (p.Ile383Arg)
c.1142T>G (p.Ile381Arg)
c.1145T>G (p.Ile382Arg)
c.341T>G (p.Ile114Arg)
2g.233768281A>CCA431858613UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1137A>C (p.Ile379=)
c.1149A>C (p.Ile383=)
c.1143A>C (p.Ile381=)
c.1146A>C (p.Ile382=)
c.342A>C (p.Ile114=)
2g.233768281A>GCA351074075UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1137A>G (p.Ile379Met)
c.1149A>G (p.Ile383Met)
c.1143A>G (p.Ile381Met)
c.1146A>G (p.Ile382Met)
c.342A>G (p.Ile114Met)
2g.233768281A>TCA431858607UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1137A>T (p.Ile379=)
c.1149A>T (p.Ile383=)
c.1143A>T (p.Ile381=)
c.1146A>T (p.Ile382=)
c.342A>T (p.Ile114=)
2g.233768282T>ACA351074080UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1138T>A (p.Cys380Ser)
c.1150T>A (p.Cys384Ser)
c.1144T>A (p.Cys382Ser)
c.1147T>A (p.Cys383Ser)
c.343T>A (p.Cys115Ser)
2g.233768282T>CCA351074078UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1138T>C (p.Cys380Arg)
c.1150T>C (p.Cys384Arg)
c.1144T>C (p.Cys382Arg)
c.1147T>C (p.Cys383Arg)
c.343T>C (p.Cys115Arg)
2g.233768282T>GCA351074079UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1138T>G (p.Cys380Gly)
c.1150T>G (p.Cys384Gly)
c.1144T>G (p.Cys382Gly)
c.1147T>G (p.Cys383Gly)
c.343T>G (p.Cys115Gly)
2g.233768283G>ACA351074083UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1139G>A (p.Cys380Tyr)
c.1151G>A (p.Cys384Tyr)
c.1145G>A (p.Cys382Tyr)
c.1148G>A (p.Cys383Tyr)
c.344G>A (p.Cys115Tyr)
2g.233768283G>CCA351074086UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1139G>C (p.Cys380Ser)
c.1151G>C (p.Cys384Ser)
c.1145G>C (p.Cys382Ser)
c.1148G>C (p.Cys383Ser)
c.344G>C (p.Cys115Ser)
2g.233768283G>TCA351074092UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1139G>T (p.Cys380Phe)
c.1151G>T (p.Cys384Phe)
c.1145G>T (p.Cys382Phe)
c.1148G>T (p.Cys383Phe)
c.344G>T (p.Cys115Phe)
gnomAD v4
2g.233768284C>ACA351074102UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1140C>A (p.Cys380Ter)
c.1152C>A (p.Cys384Ter)
c.1146C>A (p.Cys382Ter)
c.1149C>A (p.Cys383Ter)
c.345C>A (p.Cys115Ter)
2g.233768284C>GCA351074106UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1140C>G (p.Cys380Trp)
c.1152C>G (p.Cys384Trp)
c.1146C>G (p.Cys382Trp)
c.1149C>G (p.Cys383Trp)
c.345C>G (p.Cys115Trp)
2g.233768284C>TCA431858636UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1140C>T (p.Cys380=)
c.1152C>T (p.Cys384=)
c.1146C>T (p.Cys382=)
c.1149C>T (p.Cys383=)
c.345C>T (p.Cys115=)
2g.233768284_233768285delinsCACA1335895264UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1140_1141delinsCA (p.Cys380=)
c.1152_1153delinsCA (p.Cys384=)
c.1146_1147delinsCA (p.Cys382=)
c.1149_1150delinsCA (p.Cys383=)
c.345_346delinsCA (p.Cys115=)
2g.233768285A=CA1335895266UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1141A= (p.Asn381=)
c.1153A= (p.Asn385=)
c.1147A= (p.Asn383=)
c.1150A= (p.Asn384=)
c.346A= (p.Asn116=)
2g.233768285A>CCA351074112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1141A>C (p.Asn381His)
c.1153A>C (p.Asn385His)
c.1147A>C (p.Asn383His)
c.1150A>C (p.Asn384His)
c.346A>C (p.Asn116His)
2g.233768285A>GCA2180017UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1141A>G (p.Asn381Asp)
c.1153A>G (p.Asn385Asp)
c.1147A>G (p.Asn383Asp)
c.1150A>G (p.Asn384Asp)
c.346A>G (p.Asn116Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768285A>TCA351074116UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1141A>T (p.Asn381Tyr)
c.1153A>T (p.Asn385Tyr)
c.1147A>T (p.Asn383Tyr)
c.1150A>T (p.Asn384Tyr)
c.346A>T (p.Asn116Tyr)
2g.233768286delCA1335895265UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1142del (p.Asn381MetfsTer6)
c.1154del (p.Asn385MetfsTer6)
c.1148del (p.Asn383MetfsTer6)
c.1151del (p.Asn384MetfsTer6)
c.347del (p.Asn116MetfsTer6)
dbSNP
2g.233768286A=CA1335895267UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1142A= (p.Asn381=)
c.1154A= (p.Asn385=)
c.1148A= (p.Asn383=)
c.1151A= (p.Asn384=)
c.347A= (p.Asn116=)
2g.233768286A>CCA351074127UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1142A>C (p.Asn381Thr)
c.1154A>C (p.Asn385Thr)
c.1148A>C (p.Asn383Thr)
c.1151A>C (p.Asn384Thr)
c.347A>C (p.Asn116Thr)
2g.233768286A>GCA2180018UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1142A>G (p.Asn381Ser)
c.1154A>G (p.Asn385Ser)
c.1148A>G (p.Asn383Ser)
c.1151A>G (p.Asn384Ser)
c.347A>G (p.Asn116Ser)
dbSNP ExAC gnomAD v2
2g.233768286A>TCA351074133UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1142A>T (p.Asn381Ile)
c.1154A>T (p.Asn385Ile)
c.1148A>T (p.Asn383Ile)
c.1151A>T (p.Asn384Ile)
c.347A>T (p.Asn116Ile)
2g.233768287T>ACA351074147UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1143T>A (p.Asn381Lys)
c.1155T>A (p.Asn385Lys)
c.1149T>A (p.Asn383Lys)
c.1152T>A (p.Asn384Lys)
c.348T>A (p.Asn116Lys)
2g.233768287T>CCA431858671UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1143T>C (p.Asn381=)
c.1155T>C (p.Asn385=)
c.1149T>C (p.Asn383=)
c.1152T>C (p.Asn384=)
c.348T>C (p.Asn116=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233768287T>GCA351074150UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1143T>G (p.Asn381Lys)
c.1155T>G (p.Asn385Lys)
c.1149T>G (p.Asn383Lys)
c.1152T>G (p.Asn384Lys)
c.348T>G (p.Asn116Lys)
2g.233768287T=CA1335895268UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1143T= (p.Asn381=)
c.1155T= (p.Asn385=)
c.1149T= (p.Asn383=)
c.1152T= (p.Asn384=)
c.348T= (p.Asn116=)
2g.233768288G>ACA351074153UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1144G>A (p.Gly382Ser)
c.1156G>A (p.Gly386Ser)
c.1150G>A (p.Gly384Ser)
c.1153G>A (p.Gly385Ser)
c.349G>A (p.Gly117Ser)
dbSNP gnomAD v3 gnomAD v4
2g.233768288G>CCA351074156UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1144G>C (p.Gly382Arg)
c.1156G>C (p.Gly386Arg)
c.1150G>C (p.Gly384Arg)
c.1153G>C (p.Gly385Arg)
c.349G>C (p.Gly117Arg)
2g.233768288G=CA1335895269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1144G= (p.Gly382=)
c.1156G= (p.Gly386=)
c.1150G= (p.Gly384=)
c.1153G= (p.Gly385=)
c.349G= (p.Gly117=)
2g.233768288G>TCA351074152UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1144G>T (p.Gly382Cys)
c.1156G>T (p.Gly386Cys)
c.1150G>T (p.Gly384Cys)
c.1153G>T (p.Gly385Cys)
c.349G>T (p.Gly117Cys)
2g.233768289G>ACA351074161UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1145G>A (p.Gly382Asp)
c.1157G>A (p.Gly386Asp)
c.1151G>A (p.Gly384Asp)
c.1154G>A (p.Gly385Asp)
c.350G>A (p.Gly117Asp)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768289G>CCA351074159UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1145G>C (p.Gly382Ala)
c.1157G>C (p.Gly386Ala)
c.1151G>C (p.Gly384Ala)
c.1154G>C (p.Gly385Ala)
c.350G>C (p.Gly117Ala)
2g.233768289G>TCA351074160UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1145G>T (p.Gly382Val)
c.1157G>T (p.Gly386Val)
c.1151G>T (p.Gly384Val)
c.1154G>T (p.Gly385Val)
c.350G>T (p.Gly117Val)
2g.233768290C>ACA431858703UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1146C>A (p.Gly382=)
c.1158C>A (p.Gly386=)
c.1152C>A (p.Gly384=)
c.1155C>A (p.Gly385=)
c.351C>A (p.Gly117=)
2g.233768290C=CA1335895270UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1146C= (p.Gly382=)
c.1158C= (p.Gly386=)
c.1152C= (p.Gly384=)
c.1155C= (p.Gly385=)
c.351C= (p.Gly117=)
2g.233768290C>GCA431858705UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1146C>G (p.Gly382=)
c.1158C>G (p.Gly386=)
c.1152C>G (p.Gly384=)
c.1155C>G (p.Gly385=)
c.351C>G (p.Gly117=)
2g.233768290C>TCA2180019UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1146C>T (p.Gly382=)
c.1158C>T (p.Gly386=)
c.1152C>T (p.Gly384=)
c.1155C>T (p.Gly385=)
c.351C>T (p.Gly117=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768291G>ACA2180020UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1147G>A (p.Val383Ile)
c.1159G>A (p.Val387Ile)
c.1153G>A (p.Val385Ile)
c.1156G>A (p.Val386Ile)
c.352G>A (p.Val118Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768291G>CCA351074164UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1147G>C (p.Val383Leu)
c.1159G>C (p.Val387Leu)
c.1153G>C (p.Val385Leu)
c.1156G>C (p.Val386Leu)
c.352G>C (p.Val118Leu)
2g.233768291G=CA1335895271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1147G= (p.Val383=)
c.1159G= (p.Val387=)
c.1153G= (p.Val385=)
c.1156G= (p.Val386=)
c.352G= (p.Val118=)
2g.233768291G>TCA351074165UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1147G>T (p.Val383Phe)
c.1159G>T (p.Val387Phe)
c.1153G>T (p.Val385Phe)
c.1156G>T (p.Val386Phe)
c.352G>T (p.Val118Phe)
ClinVar gnomAD v4
2g.233768292T>ACA351074168UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1148T>A (p.Val383Asp)
c.1160T>A (p.Val387Asp)
c.1154T>A (p.Val385Asp)
c.1157T>A (p.Val386Asp)
c.353T>A (p.Val118Asp)
2g.233768292T>CCA351074171UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1148T>C (p.Val383Ala)
c.1160T>C (p.Val387Ala)
c.1154T>C (p.Val385Ala)
c.1157T>C (p.Val386Ala)
c.353T>C (p.Val118Ala)
2g.233768292T>GCA351074173UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1148T>G (p.Val383Gly)
c.1160T>G (p.Val387Gly)
c.1154T>G (p.Val385Gly)
c.1157T>G (p.Val386Gly)
c.353T>G (p.Val118Gly)
2g.233768293T>ACA431858731UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1149T>A (p.Val383=)
c.1161T>A (p.Val387=)
c.1155T>A (p.Val385=)
c.1158T>A (p.Val386=)
c.354T>A (p.Val118=)
2g.233768293T>CCA431858733UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1149T>C (p.Val383=)
c.1161T>C (p.Val387=)
c.1155T>C (p.Val385=)
c.1158T>C (p.Val386=)
c.354T>C (p.Val118=)
2g.233768293T>GCA431858725UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1149T>G (p.Val383=)
c.1161T>G (p.Val387=)
c.1155T>G (p.Val385=)
c.1158T>G (p.Val386=)
c.354T>G (p.Val118=)
2g.233768294C>ACA351074183UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1150C>A (p.Pro384Thr)
c.1162C>A (p.Pro388Thr)
c.1156C>A (p.Pro386Thr)
c.1159C>A (p.Pro387Thr)
c.355C>A (p.Pro119Thr)
2g.233768294C=CA1335895272UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1150C= (p.Pro384=)
c.1162C= (p.Pro388=)
c.1156C= (p.Pro386=)
c.1159C= (p.Pro387=)
c.355C= (p.Pro119=)
2g.233768294C>GCA351074191UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1150C>G (p.Pro384Ala)
c.1162C>G (p.Pro388Ala)
c.1156C>G (p.Pro386Ala)
c.1159C>G (p.Pro387Ala)
c.355C>G (p.Pro119Ala)
2g.233768294C>TCA67596293UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1150C>T (p.Pro384Ser)
c.1162C>T (p.Pro388Ser)
c.1156C>T (p.Pro386Ser)
c.1159C>T (p.Pro387Ser)
c.355C>T (p.Pro119Ser)
dbSNP gnomAD v4
2g.233768295C>ACA351074204UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1151C>A (p.Pro384His)
c.1163C>A (p.Pro388His)
c.1157C>A (p.Pro386His)
c.1160C>A (p.Pro387His)
c.356C>A (p.Pro119His)
gnomAD v4
2g.233768295C>GCA351074205UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1151C>G (p.Pro384Arg)
c.1163C>G (p.Pro388Arg)
c.1157C>G (p.Pro386Arg)
c.1160C>G (p.Pro387Arg)
c.356C>G (p.Pro119Arg)
gnomAD v4
2g.233768295C>TCA351074203UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1151C>T (p.Pro384Leu)
c.1163C>T (p.Pro388Leu)
c.1157C>T (p.Pro386Leu)
c.1160C>T (p.Pro387Leu)
c.356C>T (p.Pro119Leu)
2g.233768295_233768296delinsCCCA1335895273UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1151_1152delinsCC (p.Pro384=)
c.1163_1164delinsCC (p.Pro388=)
c.1157_1158delinsCC (p.Pro386=)
c.1160_1161delinsCC (p.Pro387=)
c.356_357delinsCC (p.Pro119=)
2g.233768295_233768296delinsGTCA913189479UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1151_1152delinsGT (p.Pro384Arg)
c.1163_1164delinsGT (p.Pro388Arg)
c.1157_1158delinsGT (p.Pro386Arg)
c.1160_1161delinsGT (p.Pro387Arg)
c.356_357delinsGT (p.Pro119Arg)
ClinVar dbSNP
2g.233768296C>ACA431858747UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1152C>A (p.Pro384=)
c.1164C>A (p.Pro388=)
c.1158C>A (p.Pro386=)
c.1161C>A (p.Pro387=)
c.357C>A (p.Pro119=)
2g.233768296C=CA1335895274UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1152C= (p.Pro384=)
c.1164C= (p.Pro388=)
c.1158C= (p.Pro386=)
c.1161C= (p.Pro387=)
c.357C= (p.Pro119=)
2g.233768296C>GCA431858745UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1152C>G (p.Pro384=)
c.1164C>G (p.Pro388=)
c.1158C>G (p.Pro386=)
c.1161C>G (p.Pro387=)
c.357C>G (p.Pro119=)
2g.233768296C>TCA2180021UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1152C>T (p.Pro384=)
c.1164C>T (p.Pro388=)
c.1158C>T (p.Pro386=)
c.1161C>T (p.Pro387=)
c.357C>T (p.Pro119=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768297A=CA1335895275UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1153A= (p.Met385=)
c.1165A= (p.Met389=)
c.1159A= (p.Met387=)
c.1162A= (p.Met388=)
c.358A= (p.Met120=)
2g.233768297A>CCA351074208UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1153A>C (p.Met385Leu)
c.1165A>C (p.Met389Leu)
c.1159A>C (p.Met387Leu)
c.1162A>C (p.Met388Leu)
c.358A>C (p.Met120Leu)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768297A>GCA351074211UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1153A>G (p.Met385Val)
c.1165A>G (p.Met389Val)
c.1159A>G (p.Met387Val)
c.1162A>G (p.Met388Val)
c.358A>G (p.Met120Val)
dbSNP
2g.233768297A>TCA351074213UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1153A>T (p.Met385Leu)
c.1165A>T (p.Met389Leu)
c.1159A>T (p.Met387Leu)
c.1162A>T (p.Met388Leu)
c.358A>T (p.Met120Leu)
2g.233768298T>ACA351074219UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1154T>A (p.Met385Lys)
c.1166T>A (p.Met389Lys)
c.1160T>A (p.Met387Lys)
c.1163T>A (p.Met388Lys)
c.359T>A (p.Met120Lys)
gnomAD v4
2g.233768298T>CCA2180022UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1154T>C (p.Met385Thr)
c.1166T>C (p.Met389Thr)
c.1160T>C (p.Met387Thr)
c.1163T>C (p.Met388Thr)
c.359T>C (p.Met120Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768298T>GCA351074216UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1154T>G (p.Met385Arg)
c.1166T>G (p.Met389Arg)
c.1160T>G (p.Met387Arg)
c.1163T>G (p.Met388Arg)
c.359T>G (p.Met120Arg)
2g.233768298T=CA1335895276UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1154T= (p.Met385=)
c.1166T= (p.Met389=)
c.1160T= (p.Met387=)
c.1163T= (p.Met388=)
c.359T= (p.Met120=)
2g.233768299G>ACA351074221UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1155G>A (p.Met385Ile)
c.1167G>A (p.Met389Ile)
c.1161G>A (p.Met387Ile)
c.1164G>A (p.Met388Ile)
c.360G>A (p.Met120Ile)
dbSNP gnomAD v2 gnomAD v4
2g.233768299G>CCA351074224UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1155G>C (p.Met385Ile)
c.1167G>C (p.Met389Ile)
c.1161G>C (p.Met387Ile)
c.1164G>C (p.Met388Ile)
c.360G>C (p.Met120Ile)
2g.233768299G=CA1335895277UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1155G= (p.Met385=)
c.1167G= (p.Met389=)
c.1161G= (p.Met387=)
c.1164G= (p.Met388=)
c.360G= (p.Met120=)
2g.233768299G>TCA351074226UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1155G>T (p.Met385Ile)
c.1167G>T (p.Met389Ile)
c.1161G>T (p.Met387Ile)
c.1164G>T (p.Met388Ile)
c.360G>T (p.Met120Ile)
2g.233768300G>ACA351074230UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1156G>A (p.Val386Met)
c.1168G>A (p.Val390Met)
c.1162G>A (p.Val388Met)
c.1165G>A (p.Val389Met)
c.361G>A (p.Val121Met)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768300G>CCA351074232UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1156G>C (p.Val386Leu)
c.1168G>C (p.Val390Leu)
c.1162G>C (p.Val388Leu)
c.1165G>C (p.Val389Leu)
c.361G>C (p.Val121Leu)
dbSNP gnomAD v2 gnomAD v4
2g.233768300G=CA1335895278UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1156G= (p.Val386=)
c.1168G= (p.Val390=)
c.1162G= (p.Val388=)
c.1165G= (p.Val389=)
c.361G= (p.Val121=)
2g.233768300G>TCA351074235UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1156G>T (p.Val386Leu)
c.1168G>T (p.Val390Leu)
c.1162G>T (p.Val388Leu)
c.1165G>T (p.Val389Leu)
c.361G>T (p.Val121Leu)
2g.233768301T>ACA351074252UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1157T>A (p.Val386Glu)
c.1169T>A (p.Val390Glu)
c.1163T>A (p.Val388Glu)
c.1166T>A (p.Val389Glu)
c.362T>A (p.Val121Glu)
2g.233768301T>CCA351074248UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1157T>C (p.Val386Ala)
c.1169T>C (p.Val390Ala)
c.1163T>C (p.Val388Ala)
c.1166T>C (p.Val389Ala)
c.362T>C (p.Val121Ala)
2g.233768301T>GCA351074241UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1157T>G (p.Val386Gly)
c.1169T>G (p.Val390Gly)
c.1163T>G (p.Val388Gly)
c.1166T>G (p.Val389Gly)
c.362T>G (p.Val121Gly)
2g.233768302G>ACA431858796UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1158G>A (p.Val386=)
c.1170G>A (p.Val390=)
c.1164G>A (p.Val388=)
c.1167G>A (p.Val389=)
c.363G>A (p.Val121=)
gnomAD v4
2g.233768302G>CCA431858799UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1158G>C (p.Val386=)
c.1170G>C (p.Val390=)
c.1164G>C (p.Val388=)
c.1167G>C (p.Val389=)
c.363G>C (p.Val121=)
2g.233768302G>TCA431858800UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1158G>T (p.Val386=)
c.1170G>T (p.Val390=)
c.1164G>T (p.Val388=)
c.1167G>T (p.Val389=)
c.363G>T (p.Val121=)
2g.233768303A>CCA351074255UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1159A>C (p.Met387Leu)
c.1171A>C (p.Met391Leu)
c.1165A>C (p.Met389Leu)
c.1168A>C (p.Met390Leu)
c.364A>C (p.Met122Leu)
gnomAD v4
2g.233768303A>GCA351074257UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1159A>G (p.Met387Val)
c.1171A>G (p.Met391Val)
c.1165A>G (p.Met389Val)
c.1168A>G (p.Met390Val)
c.364A>G (p.Met122Val)
2g.233768303A>TCA351074258UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1159A>T (p.Met387Leu)
c.1171A>T (p.Met391Leu)
c.1165A>T (p.Met389Leu)
c.1168A>T (p.Met390Leu)
c.364A>T (p.Met122Leu)
2g.233768304T>ACA351074259UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1160T>A (p.Met387Lys)
c.1172T>A (p.Met391Lys)
c.1166T>A (p.Met389Lys)
c.1169T>A (p.Met390Lys)
c.365T>A (p.Met122Lys)
2g.233768304T>CCA351074262UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1160T>C (p.Met387Thr)
c.1172T>C (p.Met391Thr)
c.1166T>C (p.Met389Thr)
c.1169T>C (p.Met390Thr)
c.365T>C (p.Met122Thr)
2g.233768304T>GCA351074265UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1160T>G (p.Met387Arg)
c.1172T>G (p.Met391Arg)
c.1166T>G (p.Met389Arg)
c.1169T>G (p.Met390Arg)
c.365T>G (p.Met122Arg)
2g.233768305G>ACA351074269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1161G>A (p.Met387Ile)
c.1173G>A (p.Met391Ile)
c.1167G>A (p.Met389Ile)
c.1170G>A (p.Met390Ile)
c.366G>A (p.Met122Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.233768305G>CCA351074272UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1161G>C (p.Met387Ile)
c.1173G>C (p.Met391Ile)
c.1167G>C (p.Met389Ile)
c.1170G>C (p.Met390Ile)
c.366G>C (p.Met122Ile)
gnomAD v4
2g.233768305G=CA1335895279UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1161G= (p.Met387=)
c.1173G= (p.Met391=)
c.1167G= (p.Met389=)
c.1170G= (p.Met390=)
c.366G= (p.Met122=)
2g.233768305G>TCA351074274UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1161G>T (p.Met387Ile)
c.1173G>T (p.Met391Ile)
c.1167G>T (p.Met389Ile)
c.1170G>T (p.Met390Ile)
c.366G>T (p.Met122Ile)
2g.233768306A=CA1335895280UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1162A= (p.Met388=)
c.1174A= (p.Met392=)
c.1168A= (p.Met390=)
c.1171A= (p.Met391=)
c.367A= (p.Met123=)
2g.233768306A>CCA351074277UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1162A>C (p.Met388Leu)
c.1174A>C (p.Met392Leu)
c.1168A>C (p.Met390Leu)
c.1171A>C (p.Met391Leu)
c.367A>C (p.Met123Leu)
2g.233768306A>GCA351074278UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1162A>G (p.Met388Val)
c.1174A>G (p.Met392Val)
c.1168A>G (p.Met390Val)
c.1171A>G (p.Met391Val)
c.367A>G (p.Met123Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233768306A>TCA351074280UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1162A>T (p.Met388Leu)
c.1174A>T (p.Met392Leu)
c.1168A>T (p.Met390Leu)
c.1171A>T (p.Met391Leu)
c.367A>T (p.Met123Leu)
2g.233768307T>ACA351074290UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1163T>A (p.Met388Lys)
c.1175T>A (p.Met392Lys)
c.1169T>A (p.Met390Lys)
c.1172T>A (p.Met391Lys)
c.368T>A (p.Met123Lys)
2g.233768307T>CCA351074293UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1163T>C (p.Met388Thr)
c.1175T>C (p.Met392Thr)
c.1169T>C (p.Met390Thr)
c.1172T>C (p.Met391Thr)
c.368T>C (p.Met123Thr)
2g.233768307T>GCA351074284UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1163T>G (p.Met388Arg)
c.1175T>G (p.Met392Arg)
c.1169T>G (p.Met390Arg)
c.1172T>G (p.Met391Arg)
c.368T>G (p.Met123Arg)
2g.233768308G>ACA2180023UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1164G>A (p.Met388Ile)
c.1176G>A (p.Met392Ile)
c.1170G>A (p.Met390Ile)
c.1173G>A (p.Met391Ile)
c.369G>A (p.Met123Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768308G>CCA351074294UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1164G>C (p.Met388Ile)
c.1176G>C (p.Met392Ile)
c.1170G>C (p.Met390Ile)
c.1173G>C (p.Met391Ile)
c.369G>C (p.Met123Ile)
2g.233768308G=CA1335895281UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1164G= (p.Met388=)
c.1176G= (p.Met392=)
c.1170G= (p.Met390=)
c.1173G= (p.Met391=)
c.369G= (p.Met123=)
2g.233768308G>TCA351074295UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1164G>T (p.Met388Ile)
c.1176G>T (p.Met392Ile)
c.1170G>T (p.Met390Ile)
c.1173G>T (p.Met391Ile)
c.369G>T (p.Met123Ile)
2g.233768309C>ACA351074297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1165C>A (p.Pro389Thr)
c.1177C>A (p.Pro393Thr)
c.1171C>A (p.Pro391Thr)
c.1174C>A (p.Pro392Thr)
c.370C>A (p.Pro124Thr)
2g.233768309C=CA1335895282UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1165C= (p.Pro389=)
c.1177C= (p.Pro393=)
c.1171C= (p.Pro391=)
c.1174C= (p.Pro392=)
c.370C= (p.Pro124=)
2g.233768309C>GCA351074310UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1165C>G (p.Pro389Ala)
c.1177C>G (p.Pro393Ala)
c.1171C>G (p.Pro391Ala)
c.1174C>G (p.Pro392Ala)
c.370C>G (p.Pro124Ala)
2g.233768309C>TCA351074314UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1165C>T (p.Pro389Ser)
c.1177C>T (p.Pro393Ser)
c.1171C>T (p.Pro391Ser)
c.1174C>T (p.Pro392Ser)
c.370C>T (p.Pro124Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233768310C>ACA351074316UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1166C>A (p.Pro389His)
c.1178C>A (p.Pro393His)
c.1172C>A (p.Pro391His)
c.1175C>A (p.Pro392His)
c.371C>A (p.Pro124His)
2g.233768310C=CA1335895283UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1166C= (p.Pro389=)
c.1178C= (p.Pro393=)
c.1172C= (p.Pro391=)
c.1175C= (p.Pro392=)
c.371C= (p.Pro124=)
2g.233768310C>GCA351074325UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1166C>G (p.Pro389Arg)
c.1178C>G (p.Pro393Arg)
c.1172C>G (p.Pro391Arg)
c.1175C>G (p.Pro392Arg)
c.371C>G (p.Pro124Arg)
gnomAD v4
2g.233768310C>TCA10605066UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1166C>T (p.Pro389Leu)
c.1178C>T (p.Pro393Leu)
c.1172C>T (p.Pro391Leu)
c.1175C>T (p.Pro392Leu)
c.371C>T (p.Pro124Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.233768311C>ACA431858903UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1167C>A (p.Pro389=)
c.1179C>A (p.Pro393=)
c.1173C>A (p.Pro391=)
c.1176C>A (p.Pro392=)
c.372C>A (p.Pro124=)
2g.233768311C>GCA431858899UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1167C>G (p.Pro389=)
c.1179C>G (p.Pro393=)
c.1173C>G (p.Pro391=)
c.1176C>G (p.Pro392=)
c.372C>G (p.Pro124=)
2g.233768311C>TCA431858901UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1167C>T (p.Pro389=)
c.1179C>T (p.Pro393=)
c.1173C>T (p.Pro391=)
c.1176C>T (p.Pro392=)
c.372C>T (p.Pro124=)
2g.233768312T>ACA351074327UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1168T>A (p.Leu390Met)
c.1180T>A (p.Leu394Met)
c.1174T>A (p.Leu392Met)
c.1177T>A (p.Leu393Met)
c.373T>A (p.Leu125Met)
2g.233768312T>CCA431858905UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1168T>C (p.Leu390=)
c.1180T>C (p.Leu394=)
c.1174T>C (p.Leu392=)
c.1177T>C (p.Leu393=)
c.373T>C (p.Leu125=)
2g.233768312T>GCA351074329UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1168T>G (p.Leu390Val)
c.1180T>G (p.Leu394Val)
c.1174T>G (p.Leu392Val)
c.1177T>G (p.Leu393Val)
c.373T>G (p.Leu125Val)
2g.233768313T>ACA351074337UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1169T>A (p.Leu390Ter)
c.1181T>A (p.Leu394Ter)
c.1175T>A (p.Leu392Ter)
c.1178T>A (p.Leu393Ter)
c.374T>A (p.Leu125Ter)
2g.233768313T>CCA351074340UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1169T>C (p.Leu390Ser)
c.1181T>C (p.Leu394Ser)
c.1175T>C (p.Leu392Ser)
c.1178T>C (p.Leu393Ser)
c.374T>C (p.Leu125Ser)
gnomAD v4
2g.233768313T>GCA351074342UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1169T>G (p.Leu390Trp)
c.1181T>G (p.Leu394Trp)
c.1175T>G (p.Leu392Trp)
c.1178T>G (p.Leu393Trp)
c.374T>G (p.Leu125Trp)
2g.233768314G>ACA431858912UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1170G>A (p.Leu390=)
c.1182G>A (p.Leu394=)
c.1176G>A (p.Leu392=)
c.1179G>A (p.Leu393=)
c.375G>A (p.Leu125=)
dbSNP gnomAD v4
2g.233768314G>CCA351074345UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1170G>C (p.Leu390Phe)
c.1182G>C (p.Leu394Phe)
c.1176G>C (p.Leu392Phe)
c.1179G>C (p.Leu393Phe)
c.375G>C (p.Leu125Phe)
2g.233768314G=CA1335895284UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1170G= (p.Leu390=)
c.1182G= (p.Leu394=)
c.1176G= (p.Leu392=)
c.1179G= (p.Leu393=)
c.375G= (p.Leu125=)
2g.233768314G>TCA351074344UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1170G>T (p.Leu390Phe)
c.1182G>T (p.Leu394Phe)
c.1176G>T (p.Leu392Phe)
c.1179G>T (p.Leu393Phe)
c.375G>T (p.Leu125Phe)
dbSNP gnomAD v3 gnomAD v4
2g.233768315T>ACA351074346UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1171T>A (p.Phe391Ile)
c.1183T>A (p.Phe395Ile)
c.1177T>A (p.Phe393Ile)
c.1180T>A (p.Phe394Ile)
c.376T>A (p.Phe126Ile)
2g.233768315T>CCA351074349UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1171T>C (p.Phe391Leu)
c.1183T>C (p.Phe395Leu)
c.1177T>C (p.Phe393Leu)
c.1180T>C (p.Phe394Leu)
c.376T>C (p.Phe126Leu)
ClinVar dbSNP gnomAD v4
2g.233768315T>GCA351074347UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1171T>G (p.Phe391Val)
c.1183T>G (p.Phe395Val)
c.1177T>G (p.Phe393Val)
c.1180T>G (p.Phe394Val)
c.376T>G (p.Phe126Val)
2g.233768315T=CA1335895285UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1171T= (p.Phe391=)
c.1183T= (p.Phe395=)
c.1177T= (p.Phe393=)
c.1180T= (p.Phe394=)
c.376T= (p.Phe126=)
2g.233768317dupCA2663717386UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1173dup (p.Gly392TrpfsTer2)
c.1185dup (p.Gly396TrpfsTer2)
c.1179dup (p.Gly394TrpfsTer2)
c.1182dup (p.Gly395TrpfsTer2)
c.378dup (p.Gly127TrpfsTer2)
gnomAD v4
2g.233768316T>ACA351074351UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1172T>A (p.Phe391Tyr)
c.1184T>A (p.Phe395Tyr)
c.1178T>A (p.Phe393Tyr)
c.1181T>A (p.Phe394Tyr)
c.377T>A (p.Phe126Tyr)
2g.233768316T>CCA351074362UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1172T>C (p.Phe391Ser)
c.1184T>C (p.Phe395Ser)
c.1178T>C (p.Phe393Ser)
c.1181T>C (p.Phe394Ser)
c.377T>C (p.Phe126Ser)
2g.233768316T>GCA351074359UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1172T>G (p.Phe391Cys)
c.1184T>G (p.Phe395Cys)
c.1178T>G (p.Phe393Cys)
c.1181T>G (p.Phe394Cys)
c.377T>G (p.Phe126Cys)
2g.233768317T>ACA351074366UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1173T>A (p.Phe391Leu)
c.1185T>A (p.Phe395Leu)
c.1179T>A (p.Phe393Leu)
c.1182T>A (p.Phe394Leu)
c.378T>A (p.Phe126Leu)
2g.233768317T>CCA431858922UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1173T>C (p.Phe391=)
c.1185T>C (p.Phe395=)
c.1179T>C (p.Phe393=)
c.1182T>C (p.Phe394=)
c.378T>C (p.Phe126=)
2g.233768317T>GCA351074371UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1173T>G (p.Phe391Leu)
c.1185T>G (p.Phe395Leu)
c.1179T>G (p.Phe393Leu)
c.1182T>G (p.Phe394Leu)
c.378T>G (p.Phe126Leu)
2g.233768318G>ACA351074373UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1174G>A (p.Gly392Ser)
c.1186G>A (p.Gly396Ser)
c.1180G>A (p.Gly394Ser)
c.1183G>A (p.Gly395Ser)
c.379G>A (p.Gly127Ser)
2g.233768318G>CCA351074374UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1174G>C (p.Gly392Arg)
c.1186G>C (p.Gly396Arg)
c.1180G>C (p.Gly394Arg)
c.1183G>C (p.Gly395Arg)
c.379G>C (p.Gly127Arg)
2g.233768318G>TCA351074375UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1174G>T (p.Gly392Cys)
c.1186G>T (p.Gly396Cys)
c.1180G>T (p.Gly394Cys)
c.1183G>T (p.Gly395Cys)
c.379G>T (p.Gly127Cys)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768319G>ACA67596335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1175G>A (p.Gly392Asp)
c.1187G>A (p.Gly396Asp)
c.1181G>A (p.Gly394Asp)
c.1184G>A (p.Gly395Asp)
c.380G>A (p.Gly127Asp)
dbSNP gnomAD v4
2g.233768319G>CCA2180024UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1175G>C (p.Gly392Ala)
c.1187G>C (p.Gly396Ala)
c.1181G>C (p.Gly394Ala)
c.1184G>C (p.Gly395Ala)
c.380G>C (p.Gly127Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768319G=CA1335895286UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1175G= (p.Gly392=)
c.1187G= (p.Gly396=)
c.1181G= (p.Gly394=)
c.1184G= (p.Gly395=)
c.380G= (p.Gly127=)
2g.233768319G>TCA2180025UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1175G>T (p.Gly392Val)
c.1187G>T (p.Gly396Val)
c.1181G>T (p.Gly394Val)
c.1184G>T (p.Gly395Val)
c.380G>T (p.Gly127Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768320T>ACA431858939UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1176T>A (p.Gly392=)
c.1188T>A (p.Gly396=)
c.1182T>A (p.Gly394=)
c.1185T>A (p.Gly395=)
c.381T>A (p.Gly127=)
2g.233768320T>CCA431858945UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1176T>C (p.Gly392=)
c.1188T>C (p.Gly396=)
c.1182T>C (p.Gly394=)
c.1185T>C (p.Gly395=)
c.381T>C (p.Gly127=)
dbSNP
2g.233768320T>GCA2180026UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1176T>G (p.Gly392=)
c.1188T>G (p.Gly396=)
c.1182T>G (p.Gly394=)
c.1185T>G (p.Gly395=)
c.381T>G (p.Gly127=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768320T=CA1335895287UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1176T= (p.Gly392=)
c.1188T= (p.Gly396=)
c.1182T= (p.Gly394=)
c.1185T= (p.Gly395=)
c.381T= (p.Gly127=)
2g.233768321delCA2586971582UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1177del (p.Asp393IlefsTer16)
c.1189del (p.Asp397IlefsTer16)
c.1183del (p.Asp395IlefsTer16)
c.1186del (p.Asp396IlefsTer16)
c.382del (p.Asp128IlefsTer16)
2g.233768321G>ACA351074382UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1177G>A (p.Asp393Asn)
c.1189G>A (p.Asp397Asn)
c.1183G>A (p.Asp395Asn)
c.1186G>A (p.Asp396Asn)
c.382G>A (p.Asp128Asn)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768321G>CCA351074384UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1177G>C (p.Asp393His)
c.1189G>C (p.Asp397His)
c.1183G>C (p.Asp395His)
c.1186G>C (p.Asp396His)
c.382G>C (p.Asp128His)
2g.233768321G>TCA351074386UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1177G>T (p.Asp393Tyr)
c.1189G>T (p.Asp397Tyr)
c.1183G>T (p.Asp395Tyr)
c.1186G>T (p.Asp396Tyr)
c.382G>T (p.Asp128Tyr)
2g.233768322A>CCA351074387UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1178A>C (p.Asp393Ala)
c.1190A>C (p.Asp397Ala)
c.1184A>C (p.Asp395Ala)
c.1187A>C (p.Asp396Ala)
c.383A>C (p.Asp128Ala)
2g.233768322A>GCA351074390UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1178A>G (p.Asp393Gly)
c.1190A>G (p.Asp397Gly)
c.1184A>G (p.Asp395Gly)
c.1187A>G (p.Asp396Gly)
c.383A>G (p.Asp128Gly)
2g.233768322A>TCA351074389UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1178A>T (p.Asp393Val)
c.1190A>T (p.Asp397Val)
c.1184A>T (p.Asp395Val)
c.1187A>T (p.Asp396Val)
c.383A>T (p.Asp128Val)
2g.233768323T>ACA351074871UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1179T>A (p.Asp393Glu)
c.1191T>A (p.Asp397Glu)
c.1185T>A (p.Asp395Glu)
c.1188T>A (p.Asp396Glu)
c.384T>A (p.Asp128Glu)
2g.233768323T>CCA431859738UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1179T>C (p.Asp393=)
c.1191T>C (p.Asp397=)
c.1185T>C (p.Asp395=)
c.1188T>C (p.Asp396=)
c.384T>C (p.Asp128=)
2g.233768323T>GCA351074873UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1179T>G (p.Asp393Glu)
c.1191T>G (p.Asp397Glu)
c.1185T>G (p.Asp395Glu)
c.1188T>G (p.Asp396Glu)
c.384T>G (p.Asp128Glu)
2g.233768324C>ACA351074875UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1180C>A (p.Gln394Lys)
c.1192C>A (p.Gln398Lys)
c.1186C>A (p.Gln396Lys)
c.1189C>A (p.Gln397Lys)
c.385C>A (p.Gln129Lys)
2g.233768324C>GCA351074877UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1180C>G (p.Gln394Glu)
c.1192C>G (p.Gln398Glu)
c.1186C>G (p.Gln396Glu)
c.1189C>G (p.Gln397Glu)
c.385C>G (p.Gln129Glu)
2g.233768324C>TCA351074879UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1180C>T (p.Gln394Ter)
c.1192C>T (p.Gln398Ter)
c.1186C>T (p.Gln396Ter)
c.1189C>T (p.Gln397Ter)
c.385C>T (p.Gln129Ter)
2g.233768325A>CCA351074881UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1181A>C (p.Gln394Pro)
c.1193A>C (p.Gln398Pro)
c.1187A>C (p.Gln396Pro)
c.1190A>C (p.Gln397Pro)
c.386A>C (p.Gln129Pro)
2g.233768325A>GCA351074883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1181A>G (p.Gln394Arg)
c.1193A>G (p.Gln398Arg)
c.1187A>G (p.Gln396Arg)
c.1190A>G (p.Gln397Arg)
c.386A>G (p.Gln129Arg)
gnomAD v4
2g.233768325A>TCA351074885UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1181A>T (p.Gln394Leu)
c.1193A>T (p.Gln398Leu)
c.1187A>T (p.Gln396Leu)
c.1190A>T (p.Gln397Leu)
c.386A>T (p.Gln129Leu)
2g.233768326G>ACA431859758UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1182G>A (p.Gln394=)
c.1194G>A (p.Gln398=)
c.1188G>A (p.Gln396=)
c.1191G>A (p.Gln397=)
c.387G>A (p.Gln129=)
dbSNP gnomAD v2 gnomAD v4
2g.233768326G>CCA351074886UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1182G>C (p.Gln394His)
c.1194G>C (p.Gln398His)
c.1188G>C (p.Gln396His)
c.1191G>C (p.Gln397His)
c.387G>C (p.Gln129His)
2g.233768326G=CA1335895288UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1182G= (p.Gln394=)
c.1194G= (p.Gln398=)
c.1188G= (p.Gln396=)
c.1191G= (p.Gln397=)
c.387G= (p.Gln129=)
2g.233768326G>TCA351074888UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1182G>T (p.Gln394His)
c.1194G>T (p.Gln398His)
c.1188G>T (p.Gln396His)
c.1191G>T (p.Gln397His)
c.387G>T (p.Gln129His)
2g.233768327A>CCA351074894UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1183A>C (p.Met395Leu)
c.1195A>C (p.Met399Leu)
c.1189A>C (p.Met397Leu)
c.1192A>C (p.Met398Leu)
c.388A>C (p.Met130Leu)
2g.233768327A>GCA351074892UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1183A>G (p.Met395Val)
c.1195A>G (p.Met399Val)
c.1189A>G (p.Met397Val)
c.1192A>G (p.Met398Val)
c.388A>G (p.Met130Val)
2g.233768327A>TCA351074890UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1183A>T (p.Met395Leu)
c.1195A>T (p.Met399Leu)
c.1189A>T (p.Met397Leu)
c.1192A>T (p.Met398Leu)
c.388A>T (p.Met130Leu)
2g.233768328T>ACA351074898UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1184T>A (p.Met395Lys)
c.1196T>A (p.Met399Lys)
c.1190T>A (p.Met397Lys)
c.1193T>A (p.Met398Lys)
c.389T>A (p.Met130Lys)
2g.233768328T>CCA2180027UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1184T>C (p.Met395Thr)
c.1196T>C (p.Met399Thr)
c.1190T>C (p.Met397Thr)
c.1193T>C (p.Met398Thr)
c.389T>C (p.Met130Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768328T>GCA351074896UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1184T>G (p.Met395Arg)
c.1196T>G (p.Met399Arg)
c.1190T>G (p.Met397Arg)
c.1193T>G (p.Met398Arg)
c.389T>G (p.Met130Arg)
2g.233768328T=CA1335895289UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1184T= (p.Met395=)
c.1196T= (p.Met399=)
c.1190T= (p.Met397=)
c.1193T= (p.Met398=)
c.389T= (p.Met130=)
2g.233768329G>ACA351074900UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1185G>A (p.Met395Ile)
c.1197G>A (p.Met399Ile)
c.1191G>A (p.Met397Ile)
c.1194G>A (p.Met398Ile)
c.390G>A (p.Met130Ile)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233768329G>CCA351074901UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1185G>C (p.Met395Ile)
c.1197G>C (p.Met399Ile)
c.1191G>C (p.Met397Ile)
c.1194G>C (p.Met398Ile)
c.390G>C (p.Met130Ile)
2g.233768329G>TCA351074903UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1185G>T (p.Met395Ile)
c.1197G>T (p.Met399Ile)
c.1191G>T (p.Met397Ile)
c.1194G>T (p.Met398Ile)
c.390G>T (p.Met130Ile)
2g.233768330G>ACA351074906UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1186G>A (p.Asp396Asn)
c.1198G>A (p.Asp400Asn)
c.1192G>A (p.Asp398Asn)
c.1195G>A (p.Asp399Asn)
c.391G>A (p.Asp131Asn)
2g.233768330G>CCA351074907UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1186G>C (p.Asp396His)
c.1198G>C (p.Asp400His)
c.1192G>C (p.Asp398His)
c.1195G>C (p.Asp399His)
c.391G>C (p.Asp131His)
2g.233768330G>TCA351074909UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1186G>T (p.Asp396Tyr)
c.1198G>T (p.Asp400Tyr)
c.1192G>T (p.Asp398Tyr)
c.1195G>T (p.Asp399Tyr)
c.391G>T (p.Asp131Tyr)
2g.233768331A=CA1335895290UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1187A= (p.Asp396=)
c.1199A= (p.Asp400=)
c.1193A= (p.Asp398=)
c.1196A= (p.Asp399=)
c.392A= (p.Asp131=)
2g.233768331A>CCA351074911UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1187A>C (p.Asp396Ala)
c.1199A>C (p.Asp400Ala)
c.1193A>C (p.Asp398Ala)
c.1196A>C (p.Asp399Ala)
c.392A>C (p.Asp131Ala)
2g.233768331A>GCA2180028UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1187A>G (p.Asp396Gly)
c.1199A>G (p.Asp400Gly)
c.1193A>G (p.Asp398Gly)
c.1196A>G (p.Asp399Gly)
c.392A>G (p.Asp131Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233768331A>TCA351074913UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1187A>T (p.Asp396Val)
c.1199A>T (p.Asp400Val)
c.1193A>T (p.Asp398Val)
c.1196A>T (p.Asp399Val)
c.392A>T (p.Asp131Val)
2g.233768332C>ACA351074915UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1188C>A (p.Asp396Glu)
c.1200C>A (p.Asp400Glu)
c.1194C>A (p.Asp398Glu)
c.1197C>A (p.Asp399Glu)
c.393C>A (p.Asp131Glu)
2g.233768332C>GCA351074917UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1188C>G (p.Asp396Glu)
c.1200C>G (p.Asp400Glu)
c.1194C>G (p.Asp398Glu)
c.1197C>G (p.Asp399Glu)
c.393C>G (p.Asp131Glu)
2g.233768332C>TCA431859798UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1188C>T (p.Asp396=)
c.1200C>T (p.Asp400=)
c.1194C>T (p.Asp398=)
c.1197C>T (p.Asp399=)
c.393C>T (p.Asp131=)
2g.233768333A=CA1335895291UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1189A= (p.Asn397=)
c.1201A= (p.Asn401=)
c.1195A= (p.Asn399=)
c.1198A= (p.Asn400=)
c.394A= (p.Asn132=)
2g.233768333A>CCA67596366UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1189A>C (p.Asn397His)
c.1201A>C (p.Asn401His)
c.1195A>C (p.Asn399His)
c.1198A>C (p.Asn400His)
c.394A>C (p.Asn132His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233768333A>GCA122104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1189A>G (p.Asn397Asp)
c.1201A>G (p.Asn401Asp)
c.1195A>G (p.Asn399Asp)
c.1198A>G (p.Asn400Asp)
c.394A>G (p.Asn132Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768333A>TCA351074920UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1189A>T (p.Asn397Tyr)
c.1201A>T (p.Asn401Tyr)
c.1195A>T (p.Asn399Tyr)
c.1198A>T (p.Asn400Tyr)
c.394A>T (p.Asn132Tyr)
2g.233768334A>CCA351074924UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1190A>C (p.Asn397Thr)
c.1202A>C (p.Asn401Thr)
c.1196A>C (p.Asn399Thr)
c.1199A>C (p.Asn400Thr)
c.395A>C (p.Asn132Thr)
2g.233768334A>GCA351074925UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1190A>G (p.Asn397Ser)
c.1202A>G (p.Asn401Ser)
c.1196A>G (p.Asn399Ser)
c.1199A>G (p.Asn400Ser)
c.395A>G (p.Asn132Ser)
gnomAD v4
2g.233768334A>TCA351074927UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1190A>T (p.Asn397Ile)
c.1202A>T (p.Asn401Ile)
c.1196A>T (p.Asn399Ile)
c.1199A>T (p.Asn400Ile)
c.395A>T (p.Asn132Ile)
2g.233768335T>ACA67596377UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1191T>A (p.Asn397Lys)
c.1203T>A (p.Asn401Lys)
c.1197T>A (p.Asn399Lys)
c.1200T>A (p.Asn400Lys)
c.396T>A (p.Asn132Lys)
dbSNP
2g.233768335T>CCA2180029UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1191T>C (p.Asn397=)
c.1203T>C (p.Asn401=)
c.1197T>C (p.Asn399=)
c.1200T>C (p.Asn400=)
c.396T>C (p.Asn132=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233768335T>GCA351074928UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1191T>G (p.Asn397Lys)
c.1203T>G (p.Asn401Lys)
c.1197T>G (p.Asn399Lys)
c.1200T>G (p.Asn400Lys)
c.396T>G (p.Asn132Lys)
2g.233768335T=CA1335895292UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1191T= (p.Asn397=)
c.1203T= (p.Asn401=)
c.1197T= (p.Asn399=)
c.1200T= (p.Asn400=)
c.396T= (p.Asn132=)
2g.233768336G>ACA351074929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1192G>A (p.Ala398Thr)
c.1204G>A (p.Ala402Thr)
c.1198G>A (p.Ala400Thr)
c.1201G>A (p.Ala401Thr)
c.397G>A (p.Ala133Thr)
2g.233768336G>CCA67596390UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1192G>C (p.Ala398Pro)
c.1204G>C (p.Ala402Pro)
c.1198G>C (p.Ala400Pro)
c.1201G>C (p.Ala401Pro)
c.397G>C (p.Ala133Pro)
dbSNP
2g.233768336G=CA1335895293UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1192G= (p.Ala398=)
c.1204G= (p.Ala402=)
c.1198G= (p.Ala400=)
c.1201G= (p.Ala401=)
c.397G= (p.Ala133=)
2g.233768336G>TCA351074930UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1192G>T (p.Ala398Ser)
c.1204G>T (p.Ala402Ser)
c.1198G>T (p.Ala400Ser)
c.1201G>T (p.Ala401Ser)
c.397G>T (p.Ala133Ser)
2g.233768337C>ACA351074931UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1193C>A (p.Ala398Glu)
c.1205C>A (p.Ala402Glu)
c.1199C>A (p.Ala400Glu)
c.1202C>A (p.Ala401Glu)
c.398C>A (p.Ala133Glu)
gnomAD v4
2g.233768337C>GCA351074932UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1193C>G (p.Ala398Gly)
c.1205C>G (p.Ala402Gly)
c.1199C>G (p.Ala400Gly)
c.1202C>G (p.Ala401Gly)
c.398C>G (p.Ala133Gly)
2g.233768337C>TCA351074933UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1193C>T (p.Ala398Val)
c.1205C>T (p.Ala402Val)
c.1199C>T (p.Ala400Val)
c.1202C>T (p.Ala401Val)
c.398C>T (p.Ala133Val)
2g.233768338A>CCA431859841UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1194A>C (p.Ala398=)
c.1206A>C (p.Ala402=)
c.1200A>C (p.Ala400=)
c.1203A>C (p.Ala401=)
c.399A>C (p.Ala133=)
2g.233768338A>GCA431859839UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1194A>G (p.Ala398=)
c.1206A>G (p.Ala402=)
c.1200A>G (p.Ala400=)
c.1203A>G (p.Ala401=)
c.399A>G (p.Ala133=)
2g.233768338A>TCA431859843UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1194A>T (p.Ala398=)
c.1206A>T (p.Ala402=)
c.1200A>T (p.Ala400=)
c.1203A>T (p.Ala401=)
c.399A>T (p.Ala133=)
2g.233768339A>CCA351074935UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1195A>C (p.Lys399Gln)
c.1207A>C (p.Lys403Gln)
c.1201A>C (p.Lys401Gln)
c.1204A>C (p.Lys402Gln)
c.400A>C (p.Lys134Gln)
2g.233768339A>GCA351074936UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1195A>G (p.Lys399Glu)
c.1207A>G (p.Lys403Glu)
c.1201A>G (p.Lys401Glu)
c.1204A>G (p.Lys402Glu)
c.400A>G (p.Lys134Glu)
2g.233768339A>TCA351074934UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1195A>T (p.Lys399Ter)
c.1207A>T (p.Lys403Ter)
c.1201A>T (p.Lys401Ter)
c.1204A>T (p.Lys402Ter)
c.400A>T (p.Lys134Ter)
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)
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

Number of alleles fetched