Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760526_233760532delCA2586965604UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6508_856-6502del (n.856-6508_856-6502del)
c.868-6508_868-6502del (n.868-6508_868-6502del)
c.862-6508_862-6502del (n.862-6508_862-6502del)
c.239_245del (p.Pro80HisfsTer7)
c.61-6508_61-6502del (n.61-6508_61-6502del)
c.442-6508_442-6502del (n.442-6508_442-6502del)
2g.233760529T>ACA351066237UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6505T>A (n.856-6505T>A)
c.868-6505T>A (n.868-6505T>A)
c.862-6505T>A (n.862-6505T>A)
c.242T>A (p.Val81Glu)
c.61-6505T>A (n.61-6505T>A)
c.442-6505T>A (n.442-6505T>A)
dbSNP
2g.233760529T>CCA351066239UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6505T>C (n.856-6505T>C)
c.868-6505T>C (n.868-6505T>C)
c.862-6505T>C (n.862-6505T>C)
c.242T>C (p.Val81Ala)
c.61-6505T>C (n.61-6505T>C)
c.442-6505T>C (n.442-6505T>C)
dbSNP gnomAD v2 gnomAD v4
2g.233760529T>GCA351066238UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6505T>G (n.856-6505T>G)
c.868-6505T>G (n.868-6505T>G)
c.862-6505T>G (n.862-6505T>G)
c.242T>G (p.Val81Gly)
c.61-6505T>G (n.61-6505T>G)
c.442-6505T>G (n.442-6505T>G)
2g.233760529T=CA1335893930UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6505T= (n.856-6505T=)
c.868-6505T= (n.868-6505T=)
c.862-6505T= (n.862-6505T=)
c.242T= (p.Val81=)
c.61-6505T= (n.61-6505T=)
c.442-6505T= (n.442-6505T=)
2g.233760530G>ACA431960196UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6504G>A (n.856-6504G>A)
c.868-6504G>A (n.868-6504G>A)
c.862-6504G>A (n.862-6504G>A)
c.243G>A (p.Val81=)
c.61-6504G>A (n.61-6504G>A)
c.442-6504G>A (n.442-6504G>A)
2g.233760530G>CCA431960195UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6504G>C (n.856-6504G>C)
c.868-6504G>C (n.868-6504G>C)
c.862-6504G>C (n.862-6504G>C)
c.243G>C (p.Val81=)
c.61-6504G>C (n.61-6504G>C)
c.442-6504G>C (n.442-6504G>C)
2g.233760530G>TCA431960197UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6504G>T (n.856-6504G>T)
c.868-6504G>T (n.868-6504G>T)
c.862-6504G>T (n.862-6504G>T)
c.243G>T (p.Val81=)
c.61-6504G>T (n.61-6504G>T)
c.442-6504G>T (n.442-6504G>T)
2g.233760531C>ACA351066240UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6503C>A (n.856-6503C>A)
c.868-6503C>A (n.868-6503C>A)
c.862-6503C>A (n.862-6503C>A)
c.244C>A (p.Pro82Thr)
c.61-6503C>A (n.61-6503C>A)
c.442-6503C>A (n.442-6503C>A)
dbSNP
2g.233760531C=CA1335893931UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6503C= (n.856-6503C=)
c.868-6503C= (n.868-6503C=)
c.862-6503C= (n.862-6503C=)
c.244C= (p.Pro82=)
c.61-6503C= (n.61-6503C=)
c.442-6503C= (n.442-6503C=)
2g.233760531C>GCA351066242UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6503C>G (n.856-6503C>G)
c.868-6503C>G (n.868-6503C>G)
c.862-6503C>G (n.862-6503C>G)
c.244C>G (p.Pro82Ala)
c.61-6503C>G (n.61-6503C>G)
c.442-6503C>G (n.442-6503C>G)
ClinVar dbSNP
2g.233760531C>TCA351066241UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6503C>T (n.856-6503C>T)
c.868-6503C>T (n.868-6503C>T)
c.862-6503C>T (n.862-6503C>T)
c.244C>T (p.Pro82Ser)
c.61-6503C>T (n.61-6503C>T)
c.442-6503C>T (n.442-6503C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760532C>ACA351066243UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6502C>A (n.856-6502C>A)
c.868-6502C>A (n.868-6502C>A)
c.862-6502C>A (n.862-6502C>A)
c.245C>A (p.Pro82Gln)
c.61-6502C>A (n.61-6502C>A)
c.442-6502C>A (n.442-6502C>A)
2g.233760532C>GCA351066244UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6502C>G (n.856-6502C>G)
c.868-6502C>G (n.868-6502C>G)
c.862-6502C>G (n.862-6502C>G)
c.245C>G (p.Pro82Arg)
c.61-6502C>G (n.61-6502C>G)
c.442-6502C>G (n.442-6502C>G)
dbSNP
2g.233760532C>TCA351066245UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6502C>T (n.856-6502C>T)
c.868-6502C>T (n.868-6502C>T)
c.862-6502C>T (n.862-6502C>T)
c.245C>T (p.Pro82Leu)
c.61-6502C>T (n.61-6502C>T)
c.442-6502C>T (n.442-6502C>T)
dbSNP
2g.233760533A=CA1335893932UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6501A= (n.856-6501A=)
c.868-6501A= (n.868-6501A=)
c.862-6501A= (n.862-6501A=)
c.246A= (p.Pro82=)
c.61-6501A= (n.61-6501A=)
c.442-6501A= (n.442-6501A=)
2g.233760533A>CCA431960198UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6501A>C (n.856-6501A>C)
c.868-6501A>C (n.868-6501A>C)
c.862-6501A>C (n.862-6501A>C)
c.246A>C (p.Pro82=)
c.61-6501A>C (n.61-6501A>C)
c.442-6501A>C (n.442-6501A>C)
2g.233760533A>GCA2179795UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6501A>G (n.856-6501A>G)
c.868-6501A>G (n.868-6501A>G)
c.862-6501A>G (n.862-6501A>G)
c.246A>G (p.Pro82=)
c.61-6501A>G (n.61-6501A>G)
c.442-6501A>G (n.442-6501A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760533A>TCA431960199UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6501A>T (n.856-6501A>T)
c.868-6501A>T (n.868-6501A>T)
c.862-6501A>T (n.862-6501A>T)
c.246A>T (p.Pro82=)
c.61-6501A>T (n.61-6501A>T)
c.442-6501A>T (n.442-6501A>T)
dbSNP
2g.233760534T>ACA67589757UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6500T>A (n.856-6500T>A)
c.868-6500T>A (n.868-6500T>A)
c.862-6500T>A (n.862-6500T>A)
c.247T>A (p.Phe83Ile)
c.61-6500T>A (n.61-6500T>A)
c.442-6500T>A (n.442-6500T>A)
dbSNP
2g.233760534T>CCA2179796UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6500T>C (n.856-6500T>C)
c.868-6500T>C (n.868-6500T>C)
c.862-6500T>C (n.862-6500T>C)
c.247T>C (p.Phe83Leu)
c.61-6500T>C (n.61-6500T>C)
c.442-6500T>C (n.442-6500T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760534T>GCA351066246UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6500T>G (n.856-6500T>G)
c.868-6500T>G (n.868-6500T>G)
c.862-6500T>G (n.862-6500T>G)
c.247T>G (p.Phe83Val)
c.61-6500T>G (n.61-6500T>G)
c.442-6500T>G (n.442-6500T>G)
2g.233760534T=CA1335893933UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6500T= (n.856-6500T=)
c.868-6500T= (n.868-6500T=)
c.862-6500T= (n.862-6500T=)
c.247T= (p.Phe83=)
c.61-6500T= (n.61-6500T=)
c.442-6500T= (n.442-6500T=)
2g.233760535T>ACA351066247UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6499T>A (n.856-6499T>A)
c.868-6499T>A (n.868-6499T>A)
c.862-6499T>A (n.862-6499T>A)
c.248T>A (p.Phe83Tyr)
c.61-6499T>A (n.61-6499T>A)
c.442-6499T>A (n.442-6499T>A)
2g.233760535T>CCA351066248UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6499T>C (n.856-6499T>C)
c.868-6499T>C (n.868-6499T>C)
c.862-6499T>C (n.862-6499T>C)
c.248T>C (p.Phe83Ser)
c.61-6499T>C (n.61-6499T>C)
c.442-6499T>C (n.442-6499T>C)
2g.233760535T>GCA351066249UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6499T>G (n.856-6499T>G)
c.868-6499T>G (n.868-6499T>G)
c.862-6499T>G (n.862-6499T>G)
c.248T>G (p.Phe83Cys)
c.61-6499T>G (n.61-6499T>G)
c.442-6499T>G (n.442-6499T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760535T=CA1335893934UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6499T= (n.856-6499T=)
c.868-6499T= (n.868-6499T=)
c.862-6499T= (n.862-6499T=)
c.248T= (p.Phe83=)
c.61-6499T= (n.61-6499T=)
c.442-6499T= (n.442-6499T=)
2g.233760536C>ACA351066250UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6498C>A (n.856-6498C>A)
c.868-6498C>A (n.868-6498C>A)
c.862-6498C>A (n.862-6498C>A)
c.249C>A (p.Phe83Leu)
c.61-6498C>A (n.61-6498C>A)
c.442-6498C>A (n.442-6498C>A)
dbSNP
2g.233760536C>GCA351066251UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6498C>G (n.856-6498C>G)
c.868-6498C>G (n.868-6498C>G)
c.862-6498C>G (n.862-6498C>G)
c.249C>G (p.Phe83Leu)
c.61-6498C>G (n.61-6498C>G)
c.442-6498C>G (n.442-6498C>G)
dbSNP COSMIC COSMIC
2g.233760536C>TCA431960200UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6498C>T (n.856-6498C>T)
c.868-6498C>T (n.868-6498C>T)
c.862-6498C>T (n.862-6498C>T)
c.249C>T (p.Phe83=)
c.61-6498C>T (n.61-6498C>T)
c.442-6498C>T (n.442-6498C>T)
dbSNP gnomAD v4 COSMIC
2g.233760537C>ACA351066252UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6497C>A (n.856-6497C>A)
c.868-6497C>A (n.868-6497C>A)
c.862-6497C>A (n.862-6497C>A)
c.250C>A (p.Gln84Lys)
c.61-6497C>A (n.61-6497C>A)
c.442-6497C>A (n.442-6497C>A)
2g.233760537C>GCA351066254UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6497C>G (n.856-6497C>G)
c.868-6497C>G (n.868-6497C>G)
c.862-6497C>G (n.862-6497C>G)
c.250C>G (p.Gln84Glu)
c.61-6497C>G (n.61-6497C>G)
c.442-6497C>G (n.442-6497C>G)
2g.233760537C>TCA351066253UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6497C>T (n.856-6497C>T)
c.868-6497C>T (n.868-6497C>T)
c.862-6497C>T (n.862-6497C>T)
c.250C>T (p.Gln84Ter)
c.61-6497C>T (n.61-6497C>T)
c.442-6497C>T (n.442-6497C>T)
gnomAD v4
2g.233760538A>CCA351066255UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6496A>C (n.856-6496A>C)
c.868-6496A>C (n.868-6496A>C)
c.862-6496A>C (n.862-6496A>C)
c.251A>C (p.Gln84Pro)
c.61-6496A>C (n.61-6496A>C)
c.442-6496A>C (n.442-6496A>C)
2g.233760538A>GCA351066256UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6496A>G (n.856-6496A>G)
c.868-6496A>G (n.868-6496A>G)
c.862-6496A>G (n.862-6496A>G)
c.251A>G (p.Gln84Arg)
c.61-6496A>G (n.61-6496A>G)
c.442-6496A>G (n.442-6496A>G)
dbSNP
2g.233760538A>TCA351066257UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6496A>T (n.856-6496A>T)
c.868-6496A>T (n.868-6496A>T)
c.862-6496A>T (n.862-6496A>T)
c.251A>T (p.Gln84Leu)
c.61-6496A>T (n.61-6496A>T)
c.442-6496A>T (n.442-6496A>T)
dbSNP
2g.233760539A>CCA351066258UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6495A>C (n.856-6495A>C)
c.868-6495A>C (n.868-6495A>C)
c.862-6495A>C (n.862-6495A>C)
c.252A>C (p.Gln84His)
c.61-6495A>C (n.61-6495A>C)
c.442-6495A>C (n.442-6495A>C)
2g.233760539A>GCA431960202UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6495A>G (n.856-6495A>G)
c.868-6495A>G (n.868-6495A>G)
c.862-6495A>G (n.862-6495A>G)
c.252A>G (p.Gln84=)
c.61-6495A>G (n.61-6495A>G)
c.442-6495A>G (n.442-6495A>G)
2g.233760539A>TCA351066259UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6495A>T (n.856-6495A>T)
c.868-6495A>T (n.868-6495A>T)
c.862-6495A>T (n.862-6495A>T)
c.252A>T (p.Gln84His)
c.61-6495A>T (n.61-6495A>T)
c.442-6495A>T (n.442-6495A>T)
2g.233760540A=CA1335893935UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6494A= (n.856-6494A=)
c.868-6494A= (n.868-6494A=)
c.862-6494A= (n.862-6494A=)
c.253A= (p.Arg85=)
c.61-6494A= (n.61-6494A=)
c.442-6494A= (n.442-6494A=)
2g.233760540A>CCA431960203UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6494A>C (n.856-6494A>C)
c.868-6494A>C (n.868-6494A>C)
c.862-6494A>C (n.862-6494A>C)
c.253A>C (p.Arg85=)
c.61-6494A>C (n.61-6494A>C)
c.442-6494A>C (n.442-6494A>C)
2g.233760540A>GCA2179797UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6494A>G (n.856-6494A>G)
c.868-6494A>G (n.868-6494A>G)
c.862-6494A>G (n.862-6494A>G)
c.253A>G (p.Arg85Gly)
c.61-6494A>G (n.61-6494A>G)
c.442-6494A>G (n.442-6494A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760540A>TCA351066260UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6494A>T (n.856-6494A>T)
c.868-6494A>T (n.868-6494A>T)
c.862-6494A>T (n.862-6494A>T)
c.253A>T (p.Arg85Trp)
c.61-6494A>T (n.61-6494A>T)
c.442-6494A>T (n.442-6494A>T)
2g.233760541G>ACA351066261UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6493G>A (n.856-6493G>A)
c.868-6493G>A (n.868-6493G>A)
c.862-6493G>A (n.862-6493G>A)
c.254G>A (p.Arg85Lys)
c.61-6493G>A (n.61-6493G>A)
c.442-6493G>A (n.442-6493G>A)
ClinVar dbSNP gnomAD v4
2g.233760541G>CCA351066262UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6493G>C (n.856-6493G>C)
c.868-6493G>C (n.868-6493G>C)
c.862-6493G>C (n.862-6493G>C)
c.254G>C (p.Arg85Thr)
c.61-6493G>C (n.61-6493G>C)
c.442-6493G>C (n.442-6493G>C)
2g.233760541G=CA1335893936UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6493G= (n.856-6493G=)
c.868-6493G= (n.868-6493G=)
c.862-6493G= (n.862-6493G=)
c.254G= (p.Arg85=)
c.61-6493G= (n.61-6493G=)
c.442-6493G= (n.442-6493G=)
2g.233760541G>TCA351066263UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6493G>T (n.856-6493G>T)
c.868-6493G>T (n.868-6493G>T)
c.862-6493G>T (n.862-6493G>T)
c.254G>T (p.Arg85Met)
c.61-6493G>T (n.61-6493G>T)
c.442-6493G>T (n.442-6493G>T)
gnomAD v4
2g.233760542G>ACA431960204UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6492G>A (n.856-6492G>A)
c.868-6492G>A (n.868-6492G>A)
c.862-6492G>A (n.862-6492G>A)
c.255G>A (p.Arg85=)
c.61-6492G>A (n.61-6492G>A)
c.442-6492G>A (n.442-6492G>A)
gnomAD v4
2g.233760542G>CCA351066265UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6492G>C (n.856-6492G>C)
c.868-6492G>C (n.868-6492G>C)
c.862-6492G>C (n.862-6492G>C)
c.255G>C (p.Arg85Ser)
c.61-6492G>C (n.61-6492G>C)
c.442-6492G>C (n.442-6492G>C)
2g.233760542G=CA1335889196UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6492G= (n.856-6492G=)
c.868-6492G= (n.868-6492G=)
c.862-6492G= (n.862-6492G=)
c.255G= (p.Arg85=)
c.61-6492G= (n.61-6492G=)
c.442-6492G= (n.442-6492G=)

Number of alleles fetched