Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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)

Number of alleles fetched