Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760519A=CA1335893925UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6515A= (n.856-6515A=)
c.868-6515A= (n.868-6515A=)
c.862-6515A= (n.862-6515A=)
c.232A= (p.Thr78=)
c.61-6515A= (n.61-6515A=)
c.442-6515A= (n.442-6515A=)
2g.233760519A>CCA351066215UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6515A>C (n.856-6515A>C)
c.868-6515A>C (n.868-6515A>C)
c.862-6515A>C (n.862-6515A>C)
c.232A>C (p.Thr78Pro)
c.61-6515A>C (n.61-6515A>C)
c.442-6515A>C (n.442-6515A>C)
dbSNP
2g.233760519A>GCA351066216UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6515A>G (n.856-6515A>G)
c.868-6515A>G (n.868-6515A>G)
c.862-6515A>G (n.862-6515A>G)
c.232A>G (p.Thr78Ala)
c.61-6515A>G (n.61-6515A>G)
c.442-6515A>G (n.442-6515A>G)
dbSNP
2g.233760519A>TCA351066217UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6515A>T (n.856-6515A>T)
c.868-6515A>T (n.868-6515A>T)
c.862-6515A>T (n.862-6515A>T)
c.232A>T (p.Thr78Ser)
c.61-6515A>T (n.61-6515A>T)
c.442-6515A>T (n.442-6515A>T)
dbSNP
2g.233760521_233760524dupCA2586965603UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6513_856-6510dup (n.856-6513_856-6510dup)
c.868-6513_868-6510dup (n.868-6513_868-6510dup)
c.862-6513_862-6510dup (n.862-6513_862-6510dup)
c.234_237dup (p.Pro80ValfsTer16)
c.61-6513_61-6510dup (n.61-6513_61-6510dup)
c.442-6513_442-6510dup (n.442-6513_442-6510dup)
2g.233760520C>ACA351066218UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6514C>A (n.856-6514C>A)
c.868-6514C>A (n.868-6514C>A)
c.862-6514C>A (n.862-6514C>A)
c.233C>A (p.Thr78Lys)
c.61-6514C>A (n.61-6514C>A)
c.442-6514C>A (n.442-6514C>A)
dbSNP
2g.233760520C=CA1335893926UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6514C= (n.856-6514C=)
c.868-6514C= (n.868-6514C=)
c.862-6514C= (n.862-6514C=)
c.233C= (p.Thr78=)
c.61-6514C= (n.61-6514C=)
c.442-6514C= (n.442-6514C=)
2g.233760520C>GCA351066219UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6514C>G (n.856-6514C>G)
c.868-6514C>G (n.868-6514C>G)
c.862-6514C>G (n.862-6514C>G)
c.233C>G (p.Thr78Arg)
c.61-6514C>G (n.61-6514C>G)
c.442-6514C>G (n.442-6514C>G)
dbSNP
2g.233760520C>TCA2179794UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6514C>T (n.856-6514C>T)
c.868-6514C>T (n.868-6514C>T)
c.862-6514C>T (n.862-6514C>T)
c.233C>T (p.Thr78Met)
c.61-6514C>T (n.61-6514C>T)
c.442-6514C>T (n.442-6514C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760521G>ACA431960183UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6513G>A (n.856-6513G>A)
c.868-6513G>A (n.868-6513G>A)
c.862-6513G>A (n.862-6513G>A)
c.234G>A (p.Thr78=)
c.61-6513G>A (n.61-6513G>A)
c.442-6513G>A (n.442-6513G>A)
dbSNP gnomAD v4
2g.233760521G>CCA431960185UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6513G>C (n.856-6513G>C)
c.868-6513G>C (n.868-6513G>C)
c.862-6513G>C (n.862-6513G>C)
c.234G>C (p.Thr78=)
c.61-6513G>C (n.61-6513G>C)
c.442-6513G>C (n.442-6513G>C)
dbSNP gnomAD v4
2g.233760521G>TCA431960184UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6513G>T (n.856-6513G>T)
c.868-6513G>T (n.868-6513G>T)
c.862-6513G>T (n.862-6513G>T)
c.234G>T (p.Thr78=)
c.61-6513G>T (n.61-6513G>T)
c.442-6513G>T (n.442-6513G>T)
gnomAD v4
2g.233760522T>ACA351066222UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6512T>A (n.856-6512T>A)
c.868-6512T>A (n.868-6512T>A)
c.862-6512T>A (n.862-6512T>A)
c.235T>A (p.Tyr79Asn)
c.61-6512T>A (n.61-6512T>A)
c.442-6512T>A (n.442-6512T>A)
dbSNP
2g.233760522T>CCA351066220UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6512T>C (n.856-6512T>C)
c.868-6512T>C (n.868-6512T>C)
c.862-6512T>C (n.862-6512T>C)
c.235T>C (p.Tyr79His)
c.61-6512T>C (n.61-6512T>C)
c.442-6512T>C (n.442-6512T>C)
dbSNP
2g.233760522T>GCA351066221UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6512T>G (n.856-6512T>G)
c.868-6512T>G (n.868-6512T>G)
c.862-6512T>G (n.862-6512T>G)
c.235T>G (p.Tyr79Asp)
c.61-6512T>G (n.61-6512T>G)
c.442-6512T>G (n.442-6512T>G)
2g.233760523A=CA1335893927UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6511A= (n.856-6511A=)
c.868-6511A= (n.868-6511A=)
c.862-6511A= (n.862-6511A=)
c.236A= (p.Tyr79=)
c.61-6511A= (n.61-6511A=)
c.442-6511A= (n.442-6511A=)
2g.233760523A>CCA351066223UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6511A>C (n.856-6511A>C)
c.868-6511A>C (n.868-6511A>C)
c.862-6511A>C (n.862-6511A>C)
c.236A>C (p.Tyr79Ser)
c.61-6511A>C (n.61-6511A>C)
c.442-6511A>C (n.442-6511A>C)
dbSNP
2g.233760523A>GCA351066224UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6511A>G (n.856-6511A>G)
c.868-6511A>G (n.868-6511A>G)
c.862-6511A>G (n.862-6511A>G)
c.236A>G (p.Tyr79Cys)
c.61-6511A>G (n.61-6511A>G)
c.442-6511A>G (n.442-6511A>G)
dbSNP gnomAD v4
2g.233760523A>TCA351066225UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6511A>T (n.856-6511A>T)
c.868-6511A>T (n.868-6511A>T)
c.862-6511A>T (n.862-6511A>T)
c.236A>T (p.Tyr79Phe)
c.61-6511A>T (n.61-6511A>T)
c.442-6511A>T (n.442-6511A>T)
dbSNP
2g.233760524C>ACA351066226UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6510C>A (n.856-6510C>A)
c.868-6510C>A (n.868-6510C>A)
c.862-6510C>A (n.862-6510C>A)
c.237C>A (p.Tyr79Ter)
c.61-6510C>A (n.61-6510C>A)
c.442-6510C>A (n.442-6510C>A)
gnomAD v4
2g.233760524C=CA1335893928UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6510C= (n.856-6510C=)
c.868-6510C= (n.868-6510C=)
c.862-6510C= (n.862-6510C=)
c.237C= (p.Tyr79=)
c.61-6510C= (n.61-6510C=)
c.442-6510C= (n.442-6510C=)
2g.233760524C>GCA351066227UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6510C>G (n.856-6510C>G)
c.868-6510C>G (n.868-6510C>G)
c.862-6510C>G (n.862-6510C>G)
c.237C>G (p.Tyr79Ter)
c.61-6510C>G (n.61-6510C>G)
c.442-6510C>G (n.442-6510C>G)
dbSNP
2g.233760524C>TCA431960187UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6510C>T (n.856-6510C>T)
c.868-6510C>T (n.868-6510C>T)
c.862-6510C>T (n.862-6510C>T)
c.237C>T (p.Tyr79=)
c.61-6510C>T (n.61-6510C>T)
c.442-6510C>T (n.442-6510C>T)
dbSNP gnomAD v4
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.233760525C>ACA351066228UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6509C>A (n.856-6509C>A)
c.868-6509C>A (n.868-6509C>A)
c.862-6509C>A (n.862-6509C>A)
c.238C>A (p.Pro80Thr)
c.61-6509C>A (n.61-6509C>A)
c.442-6509C>A (n.442-6509C>A)
dbSNP
2g.233760525C=CA1335893929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6509C= (n.856-6509C=)
c.868-6509C= (n.868-6509C=)
c.862-6509C= (n.862-6509C=)
c.238C= (p.Pro80=)
c.61-6509C= (n.61-6509C=)
c.442-6509C= (n.442-6509C=)
2g.233760525C>GCA351066229UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6509C>G (n.856-6509C>G)
c.868-6509C>G (n.868-6509C>G)
c.862-6509C>G (n.862-6509C>G)
c.238C>G (p.Pro80Ala)
c.61-6509C>G (n.61-6509C>G)
c.442-6509C>G (n.442-6509C>G)
dbSNP
2g.233760525C>TCA351066230UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6509C>T (n.856-6509C>T)
c.868-6509C>T (n.868-6509C>T)
c.862-6509C>T (n.862-6509C>T)
c.238C>T (p.Pro80Ser)
c.61-6509C>T (n.61-6509C>T)
c.442-6509C>T (n.442-6509C>T)
dbSNP
2g.233760525_233760526insGTACCA207537UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6509_856-6508insGTAC (n.856-6509_856-6508insGTAC)
c.868-6509_868-6508insGTAC (n.868-6509_868-6508insGTAC)
c.862-6509_862-6508insGTAC (n.862-6509_862-6508insGTAC)
c.238_239insGTAC (p.Pro80ArgfsTer16)
c.61-6509_61-6508insGTAC (n.61-6509_61-6508insGTAC)
c.442-6509_442-6508insGTAC (n.442-6509_442-6508insGTAC)
ClinVar dbSNP gnomAD v4
2g.233760526C>ACA351066231UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6508C>A (n.856-6508C>A)
c.868-6508C>A (n.868-6508C>A)
c.862-6508C>A (n.862-6508C>A)
c.239C>A (p.Pro80His)
c.61-6508C>A (n.61-6508C>A)
c.442-6508C>A (n.442-6508C>A)
dbSNP
2g.233760526C>GCA351066232UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6508C>G (n.856-6508C>G)
c.868-6508C>G (n.868-6508C>G)
c.862-6508C>G (n.862-6508C>G)
c.239C>G (p.Pro80Arg)
c.61-6508C>G (n.61-6508C>G)
c.442-6508C>G (n.442-6508C>G)
dbSNP
2g.233760526C>TCA351066233UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6508C>T (n.856-6508C>T)
c.868-6508C>T (n.868-6508C>T)
c.862-6508C>T (n.862-6508C>T)
c.239C>T (p.Pro80Leu)
c.61-6508C>T (n.61-6508C>T)
c.442-6508C>T (n.442-6508C>T)
dbSNP gnomAD v4
2g.233760526_233760527insGTACCA915941806UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6508_856-6507insGTAC (n.856-6508_856-6507insGTAC)
c.868-6508_868-6507insGTAC (n.868-6508_868-6507insGTAC)
c.862-6508_862-6507insGTAC (n.862-6508_862-6507insGTAC)
c.239_240insGTAC (p.Val81TyrfsTer15)
c.61-6508_61-6507insGTAC (n.61-6508_61-6507insGTAC)
c.442-6508_442-6507insGTAC (n.442-6508_442-6507insGTAC)
2g.233760527T>ACA431960192UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6507T>A (n.856-6507T>A)
c.868-6507T>A (n.868-6507T>A)
c.862-6507T>A (n.862-6507T>A)
c.240T>A (p.Pro80=)
c.61-6507T>A (n.61-6507T>A)
c.442-6507T>A (n.442-6507T>A)
dbSNP
2g.233760527T>CCA431960191UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6507T>C (n.856-6507T>C)
c.868-6507T>C (n.868-6507T>C)
c.862-6507T>C (n.862-6507T>C)
c.240T>C (p.Pro80=)
c.61-6507T>C (n.61-6507T>C)
c.442-6507T>C (n.442-6507T>C)
dbSNP
2g.233760527T>GCA431960193UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6507T>G (n.856-6507T>G)
c.868-6507T>G (n.868-6507T>G)
c.862-6507T>G (n.862-6507T>G)
c.240T>G (p.Pro80=)
c.61-6507T>G (n.61-6507T>G)
c.442-6507T>G (n.442-6507T>G)
2g.233760528G>ACA351066234UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6506G>A (n.856-6506G>A)
c.868-6506G>A (n.868-6506G>A)
c.862-6506G>A (n.862-6506G>A)
c.241G>A (p.Val81Met)
c.61-6506G>A (n.61-6506G>A)
c.442-6506G>A (n.442-6506G>A)
dbSNP gnomAD v4
2g.233760528G>CCA351066236UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6506G>C (n.856-6506G>C)
c.868-6506G>C (n.868-6506G>C)
c.862-6506G>C (n.862-6506G>C)
c.241G>C (p.Val81Leu)
c.61-6506G>C (n.61-6506G>C)
c.442-6506G>C (n.442-6506G>C)
dbSNP
2g.233760528G>TCA351066235UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6506G>T (n.856-6506G>T)
c.868-6506G>T (n.868-6506G>T)
c.862-6506G>T (n.862-6506G>T)
c.241G>T (p.Val81Leu)
c.61-6506G>T (n.61-6506G>T)
c.442-6506G>T (n.442-6506G>T)
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=)
2g.233760542G>TCA351066264UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6492G>T (n.856-6492G>T)
c.868-6492G>T (n.868-6492G>T)
c.862-6492G>T (n.862-6492G>T)
c.255G>T (p.Arg85Ser)
c.61-6492G>T (n.61-6492G>T)
c.442-6492G>T (n.442-6492G>T)
dbSNP
2g.233760543G>ACA351066266UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6491G>A (n.856-6491G>A)
c.868-6491G>A (n.868-6491G>A)
c.862-6491G>A (n.862-6491G>A)
c.256G>A (p.Glu86Lys)
c.61-6491G>A (n.61-6491G>A)
c.442-6491G>A (n.442-6491G>A)
dbSNP COSMIC COSMIC
2g.233760543G>CCA351066267UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6491G>C (n.856-6491G>C)
c.868-6491G>C (n.868-6491G>C)
c.862-6491G>C (n.862-6491G>C)
c.256G>C (p.Glu86Gln)
c.61-6491G>C (n.61-6491G>C)
c.442-6491G>C (n.442-6491G>C)
2g.233760543G>TCA351066268UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6491G>T (n.856-6491G>T)
c.868-6491G>T (n.868-6491G>T)
c.862-6491G>T (n.862-6491G>T)
c.256G>T (p.Glu86Ter)
c.61-6491G>T (n.61-6491G>T)
c.442-6491G>T (n.442-6491G>T)
2g.233760544A=CA1335889201UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6490A= (n.856-6490A=)
c.868-6490A= (n.868-6490A=)
c.862-6490A= (n.862-6490A=)
c.257A= (p.Glu86=)
c.61-6490A= (n.61-6490A=)
c.442-6490A= (n.442-6490A=)
2g.233760544A>CCA351066269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6490A>C (n.856-6490A>C)
c.868-6490A>C (n.868-6490A>C)
c.862-6490A>C (n.862-6490A>C)
c.257A>C (p.Glu86Ala)
c.61-6490A>C (n.61-6490A>C)
c.442-6490A>C (n.442-6490A>C)
dbSNP gnomAD v3 gnomAD v4
2g.233760544A>GCA351066270UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6490A>G (n.856-6490A>G)
c.868-6490A>G (n.868-6490A>G)
c.862-6490A>G (n.862-6490A>G)
c.257A>G (p.Glu86Gly)
c.61-6490A>G (n.61-6490A>G)
c.442-6490A>G (n.442-6490A>G)
dbSNP
2g.233760544A>TCA351066271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6490A>T (n.856-6490A>T)
c.868-6490A>T (n.868-6490A>T)
c.862-6490A>T (n.862-6490A>T)
c.257A>T (p.Glu86Val)
c.61-6490A>T (n.61-6490A>T)
c.442-6490A>T (n.442-6490A>T)
2g.233760545G>ACA431960208UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6489G>A (n.856-6489G>A)
c.868-6489G>A (n.868-6489G>A)
c.862-6489G>A (n.862-6489G>A)
c.258G>A (p.Glu86=)
c.61-6489G>A (n.61-6489G>A)
c.442-6489G>A (n.442-6489G>A)
2g.233760545G>CCA351066272UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6489G>C (n.856-6489G>C)
c.868-6489G>C (n.868-6489G>C)
c.862-6489G>C (n.862-6489G>C)
c.258G>C (p.Glu86Asp)
c.61-6489G>C (n.61-6489G>C)
c.442-6489G>C (n.442-6489G>C)
2g.233760545G>TCA351066273UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6489G>T (n.856-6489G>T)
c.868-6489G>T (n.868-6489G>T)
c.862-6489G>T (n.862-6489G>T)
c.258G>T (p.Glu86Asp)
c.61-6489G>T (n.61-6489G>T)
c.442-6489G>T (n.442-6489G>T)
2g.233760546G>ACA351066274UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6488G>A (n.856-6488G>A)
c.868-6488G>A (n.868-6488G>A)
c.862-6488G>A (n.862-6488G>A)
c.259G>A (p.Asp87Asn)
c.61-6488G>A (n.61-6488G>A)
c.442-6488G>A (n.442-6488G>A)
dbSNP
2g.233760546G>CCA351066275UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6488G>C (n.856-6488G>C)
c.868-6488G>C (n.868-6488G>C)
c.862-6488G>C (n.862-6488G>C)
c.259G>C (p.Asp87His)
c.61-6488G>C (n.61-6488G>C)
c.442-6488G>C (n.442-6488G>C)
dbSNP
2g.233760546G>TCA351066276UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6488G>T (n.856-6488G>T)
c.868-6488G>T (n.868-6488G>T)
c.862-6488G>T (n.862-6488G>T)
c.259G>T (p.Asp87Tyr)
c.61-6488G>T (n.61-6488G>T)
c.442-6488G>T (n.442-6488G>T)
2g.233760547A=CA1335889207UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6487A= (n.856-6487A=)
c.868-6487A= (n.868-6487A=)
c.862-6487A= (n.862-6487A=)
c.260A= (p.Asp87=)
c.61-6487A= (n.61-6487A=)
c.442-6487A= (n.442-6487A=)
2g.233760547A>CCA351066277UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6487A>C (n.856-6487A>C)
c.868-6487A>C (n.868-6487A>C)
c.862-6487A>C (n.862-6487A>C)
c.260A>C (p.Asp87Ala)
c.61-6487A>C (n.61-6487A>C)
c.442-6487A>C (n.442-6487A>C)
2g.233760547A>GCA2179799UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6487A>G (n.856-6487A>G)
c.868-6487A>G (n.868-6487A>G)
c.862-6487A>G (n.862-6487A>G)
c.260A>G (p.Asp87Gly)
c.61-6487A>G (n.61-6487A>G)
c.442-6487A>G (n.442-6487A>G)
dbSNP ExAC
2g.233760547A>TCA2179798UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6487A>T (n.856-6487A>T)
c.868-6487A>T (n.868-6487A>T)
c.862-6487A>T (n.862-6487A>T)
c.260A>T (p.Asp87Val)
c.61-6487A>T (n.61-6487A>T)
c.442-6487A>T (n.442-6487A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760548T>ACA351066278UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6486T>A (n.856-6486T>A)
c.868-6486T>A (n.868-6486T>A)
c.862-6486T>A (n.862-6486T>A)
c.261T>A (p.Asp87Glu)
c.61-6486T>A (n.61-6486T>A)
c.442-6486T>A (n.442-6486T>A)
dbSNP
2g.233760548T>CCA431960227UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6486T>C (n.856-6486T>C)
c.868-6486T>C (n.868-6486T>C)
c.862-6486T>C (n.862-6486T>C)
c.261T>C (p.Asp87=)
c.61-6486T>C (n.61-6486T>C)
c.442-6486T>C (n.442-6486T>C)
dbSNP
2g.233760548T>GCA351066279UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6486T>G (n.856-6486T>G)
c.868-6486T>G (n.868-6486T>G)
c.862-6486T>G (n.862-6486T>G)
c.261T>G (p.Asp87Glu)
c.61-6486T>G (n.61-6486T>G)
c.442-6486T>G (n.442-6486T>G)
2g.233760549G>ACA351066280UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6485G>A (n.856-6485G>A)
c.868-6485G>A (n.868-6485G>A)
c.862-6485G>A (n.862-6485G>A)
c.262G>A (p.Val88Met)
c.61-6485G>A (n.61-6485G>A)
c.442-6485G>A (n.442-6485G>A)
dbSNP gnomAD v4
2g.233760549G>CCA351066281UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6485G>C (n.856-6485G>C)
c.868-6485G>C (n.868-6485G>C)
c.862-6485G>C (n.862-6485G>C)
c.262G>C (p.Val88Leu)
c.61-6485G>C (n.61-6485G>C)
c.442-6485G>C (n.442-6485G>C)
2g.233760549G>TCA351066282UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6485G>T (n.856-6485G>T)
c.868-6485G>T (n.868-6485G>T)
c.862-6485G>T (n.862-6485G>T)
c.262G>T (p.Val88Leu)
c.61-6485G>T (n.61-6485G>T)
c.442-6485G>T (n.442-6485G>T)
2g.233760550T>ACA351066283UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6484T>A (n.856-6484T>A)
c.868-6484T>A (n.868-6484T>A)
c.862-6484T>A (n.862-6484T>A)
c.263T>A (p.Val88Glu)
c.61-6484T>A (n.61-6484T>A)
c.442-6484T>A (n.442-6484T>A)
dbSNP
2g.233760550T>CCA351066284UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6484T>C (n.856-6484T>C)
c.868-6484T>C (n.868-6484T>C)
c.862-6484T>C (n.862-6484T>C)
c.263T>C (p.Val88Ala)
c.61-6484T>C (n.61-6484T>C)
c.442-6484T>C (n.442-6484T>C)
dbSNP
2g.233760550T>GCA351066285UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6484T>G (n.856-6484T>G)
c.868-6484T>G (n.868-6484T>G)
c.862-6484T>G (n.862-6484T>G)
c.263T>G (p.Val88Gly)
c.61-6484T>G (n.61-6484T>G)
c.442-6484T>G (n.442-6484T>G)
2g.233760551G>ACA431960231UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6483G>A (n.856-6483G>A)
c.868-6483G>A (n.868-6483G>A)
c.862-6483G>A (n.862-6483G>A)
c.264G>A (p.Val88=)
c.61-6483G>A (n.61-6483G>A)
c.442-6483G>A (n.442-6483G>A)
2g.233760551G>CCA431960233UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6483G>C (n.856-6483G>C)
c.868-6483G>C (n.868-6483G>C)
c.862-6483G>C (n.862-6483G>C)
c.264G>C (p.Val88=)
c.61-6483G>C (n.61-6483G>C)
c.442-6483G>C (n.442-6483G>C)
2g.233760551G>TCA431960232UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6483G>T (n.856-6483G>T)
c.868-6483G>T (n.868-6483G>T)
c.862-6483G>T (n.862-6483G>T)
c.264G>T (p.Val88=)
c.61-6483G>T (n.61-6483G>T)
c.442-6483G>T (n.442-6483G>T)
2g.233760552A>CCA351066286UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6482A>C (n.856-6482A>C)
c.868-6482A>C (n.868-6482A>C)
c.862-6482A>C (n.862-6482A>C)
c.265A>C (p.Lys89Gln)
c.61-6482A>C (n.61-6482A>C)
c.442-6482A>C (n.442-6482A>C)
gnomAD v4
2g.233760552A>GCA351066287UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6482A>G (n.856-6482A>G)
c.868-6482A>G (n.868-6482A>G)
c.862-6482A>G (n.862-6482A>G)
c.265A>G (p.Lys89Glu)
c.61-6482A>G (n.61-6482A>G)
c.442-6482A>G (n.442-6482A>G)
2g.233760552A>TCA351066288UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6482A>T (n.856-6482A>T)
c.868-6482A>T (n.868-6482A>T)
c.862-6482A>T (n.862-6482A>T)
c.265A>T (p.Lys89Ter)
c.61-6482A>T (n.61-6482A>T)
c.442-6482A>T (n.442-6482A>T)
2g.233760553_233760554delCA2586965605UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6481_856-6480del (n.856-6481_856-6480del)
c.868-6481_868-6480del (n.868-6481_868-6480del)
c.862-6481_862-6480del (n.862-6481_862-6480del)
c.266_267del (p.Lys89ArgfsTer5)
c.61-6481_61-6480del (n.61-6481_61-6480del)
c.442-6481_442-6480del (n.442-6481_442-6480del)
2g.233760553A>CCA351066289UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6481A>C (n.856-6481A>C)
c.868-6481A>C (n.868-6481A>C)
c.862-6481A>C (n.862-6481A>C)
c.266A>C (p.Lys89Thr)
c.61-6481A>C (n.61-6481A>C)
c.442-6481A>C (n.442-6481A>C)
2g.233760553A>GCA351066290UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6481A>G (n.856-6481A>G)
c.868-6481A>G (n.868-6481A>G)
c.862-6481A>G (n.862-6481A>G)
c.266A>G (p.Lys89Arg)
c.61-6481A>G (n.61-6481A>G)
c.442-6481A>G (n.442-6481A>G)
dbSNP
2g.233760553A>TCA351066291UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6481A>T (n.856-6481A>T)
c.868-6481A>T (n.868-6481A>T)
c.862-6481A>T (n.862-6481A>T)
c.266A>T (p.Lys89Ile)
c.61-6481A>T (n.61-6481A>T)
c.442-6481A>T (n.442-6481A>T)
2g.233760554A=CA1335889209UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6480A= (n.856-6480A=)
c.868-6480A= (n.868-6480A=)
c.862-6480A= (n.862-6480A=)
c.267A= (p.Lys89=)
c.61-6480A= (n.61-6480A=)
c.442-6480A= (n.442-6480A=)
2g.233760554A>CCA351066293UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6480A>C (n.856-6480A>C)
c.868-6480A>C (n.868-6480A>C)
c.862-6480A>C (n.862-6480A>C)
c.267A>C (p.Lys89Asn)
c.61-6480A>C (n.61-6480A>C)
c.442-6480A>C (n.442-6480A>C)
2g.233760554A>GCA431960238UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6480A>G (n.856-6480A>G)
c.868-6480A>G (n.868-6480A>G)
c.862-6480A>G (n.862-6480A>G)
c.267A>G (p.Lys89=)
c.61-6480A>G (n.61-6480A>G)
c.442-6480A>G (n.442-6480A>G)
dbSNP
2g.233760554A>TCA351066292UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6480A>T (n.856-6480A>T)
c.868-6480A>T (n.868-6480A>T)
c.862-6480A>T (n.862-6480A>T)
c.267A>T (p.Lys89Asn)
c.61-6480A>T (n.61-6480A>T)
c.442-6480A>T (n.442-6480A>T)
2g.233760556_233760557delCA2580614147UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6478_856-6477del (n.856-6478_856-6477del)
c.868-6478_868-6477del (n.868-6478_868-6477del)
c.862-6478_862-6477del (n.862-6478_862-6477del)
c.269_270del (p.Glu90ValfsTer4)
c.61-6478_61-6477del (n.61-6478_61-6477del)
c.442-6478_442-6477del (n.442-6478_442-6477del)
ClinVar dbSNP
2g.233760555G>ACA351066294UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6479G>A (n.856-6479G>A)
c.868-6479G>A (n.868-6479G>A)
c.862-6479G>A (n.862-6479G>A)
c.268G>A (p.Glu90Lys)
c.61-6479G>A (n.61-6479G>A)
c.442-6479G>A (n.442-6479G>A)
dbSNP
2g.233760555G>CCA351066295UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6479G>C (n.856-6479G>C)
c.868-6479G>C (n.868-6479G>C)
c.862-6479G>C (n.862-6479G>C)
c.268G>C (p.Glu90Gln)
c.61-6479G>C (n.61-6479G>C)
c.442-6479G>C (n.442-6479G>C)
dbSNP
2g.233760555G>TCA351066296UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6479G>T (n.856-6479G>T)
c.868-6479G>T (n.868-6479G>T)
c.862-6479G>T (n.862-6479G>T)
c.268G>T (p.Glu90Ter)
c.61-6479G>T (n.61-6479G>T)
c.442-6479G>T (n.442-6479G>T)
dbSNP
2g.233760556A=CA1335889212UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6478A= (n.856-6478A=)
c.868-6478A= (n.868-6478A=)
c.862-6478A= (n.862-6478A=)
c.269A= (p.Glu90=)
c.61-6478A= (n.61-6478A=)
c.442-6478A= (n.442-6478A=)
2g.233760556A>CCA351066297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6478A>C (n.856-6478A>C)
c.868-6478A>C (n.868-6478A>C)
c.862-6478A>C (n.862-6478A>C)
c.269A>C (p.Glu90Ala)
c.61-6478A>C (n.61-6478A>C)
c.442-6478A>C (n.442-6478A>C)
2g.233760556A>GCA351066298UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6478A>G (n.856-6478A>G)
c.868-6478A>G (n.868-6478A>G)
c.862-6478A>G (n.862-6478A>G)
c.269A>G (p.Glu90Gly)
c.61-6478A>G (n.61-6478A>G)
c.442-6478A>G (n.442-6478A>G)
dbSNP gnomAD v2 gnomAD v4
2g.233760556A>TCA351066299UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6478A>T (n.856-6478A>T)
c.868-6478A>T (n.868-6478A>T)
c.862-6478A>T (n.862-6478A>T)
c.269A>T (p.Glu90Val)
c.61-6478A>T (n.61-6478A>T)
c.442-6478A>T (n.442-6478A>T)
dbSNP
2g.233760557G>ACA431960243UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6477G>A (n.856-6477G>A)
c.868-6477G>A (n.868-6477G>A)
c.862-6477G>A (n.862-6477G>A)
c.270G>A (p.Glu90=)
c.61-6477G>A (n.61-6477G>A)
c.442-6477G>A (n.442-6477G>A)
2g.233760557G>CCA351066300UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6477G>C (n.856-6477G>C)
c.868-6477G>C (n.868-6477G>C)
c.862-6477G>C (n.862-6477G>C)
c.270G>C (p.Glu90Asp)
c.61-6477G>C (n.61-6477G>C)
c.442-6477G>C (n.442-6477G>C)
dbSNP COSMIC COSMIC
2g.233760557G>TCA351066301UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6477G>T (n.856-6477G>T)
c.868-6477G>T (n.868-6477G>T)
c.862-6477G>T (n.862-6477G>T)
c.270G>T (p.Glu90Asp)
c.61-6477G>T (n.61-6477G>T)
c.442-6477G>T (n.442-6477G>T)
2g.233760558T>ACA351066302UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6476T>A (n.856-6476T>A)
c.868-6476T>A (n.868-6476T>A)
c.862-6476T>A (n.862-6476T>A)
c.271T>A (p.Ser91Thr)
c.61-6476T>A (n.61-6476T>A)
c.442-6476T>A (n.442-6476T>A)
dbSNP
2g.233760558T>CCA351066303UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6476T>C (n.856-6476T>C)
c.868-6476T>C (n.868-6476T>C)
c.862-6476T>C (n.862-6476T>C)
c.271T>C (p.Ser91Pro)
c.61-6476T>C (n.61-6476T>C)
c.442-6476T>C (n.442-6476T>C)
2g.233760558T>GCA351066304UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6476T>G (n.856-6476T>G)
c.868-6476T>G (n.868-6476T>G)
c.862-6476T>G (n.862-6476T>G)
c.271T>G (p.Ser91Ala)
c.61-6476T>G (n.61-6476T>G)
c.442-6476T>G (n.442-6476T>G)
gnomAD v4
2g.233760559C>ACA2179800UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6475C>A (n.856-6475C>A)
c.868-6475C>A (n.868-6475C>A)
c.862-6475C>A (n.862-6475C>A)
c.272C>A (p.Ser91Tyr)
c.61-6475C>A (n.61-6475C>A)
c.442-6475C>A (n.442-6475C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760559C=CA1335889215UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6475C= (n.856-6475C=)
c.868-6475C= (n.868-6475C=)
c.862-6475C= (n.862-6475C=)
c.272C= (p.Ser91=)
c.61-6475C= (n.61-6475C=)
c.442-6475C= (n.442-6475C=)
2g.233760559C>GCA351066305UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6475C>G (n.856-6475C>G)
c.868-6475C>G (n.868-6475C>G)
c.862-6475C>G (n.862-6475C>G)
c.272C>G (p.Ser91Cys)
c.61-6475C>G (n.61-6475C>G)
c.442-6475C>G (n.442-6475C>G)
dbSNP gnomAD v4 COSMIC COSMIC
2g.233760559C>TCA351066306UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6475C>T (n.856-6475C>T)
c.868-6475C>T (n.868-6475C>T)
c.862-6475C>T (n.862-6475C>T)
c.272C>T (p.Ser91Phe)
c.61-6475C>T (n.61-6475C>T)
c.442-6475C>T (n.442-6475C>T)
2g.233760560T>ACA431960245UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6474T>A (n.856-6474T>A)
c.868-6474T>A (n.868-6474T>A)
c.862-6474T>A (n.862-6474T>A)
c.273T>A (p.Ser91=)
c.61-6474T>A (n.61-6474T>A)
c.442-6474T>A (n.442-6474T>A)
dbSNP
2g.233760560T>CCA431960246UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6474T>C (n.856-6474T>C)
c.868-6474T>C (n.868-6474T>C)
c.862-6474T>C (n.862-6474T>C)
c.273T>C (p.Ser91=)
c.61-6474T>C (n.61-6474T>C)
c.442-6474T>C (n.442-6474T>C)
dbSNP
2g.233760560T>GCA431960248UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6474T>G (n.856-6474T>G)
c.868-6474T>G (n.868-6474T>G)
c.862-6474T>G (n.862-6474T>G)
c.273T>G (p.Ser91=)
c.61-6474T>G (n.61-6474T>G)
c.442-6474T>G (n.442-6474T>G)
2g.233760561T>ACA351066309UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6473T>A (n.856-6473T>A)
c.868-6473T>A (n.868-6473T>A)
c.862-6473T>A (n.862-6473T>A)
c.274T>A (p.Phe92Ile)
c.61-6473T>A (n.61-6473T>A)
c.442-6473T>A (n.442-6473T>A)
2g.233760561T>CCA351066308UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6473T>C (n.856-6473T>C)
c.868-6473T>C (n.868-6473T>C)
c.862-6473T>C (n.862-6473T>C)
c.274T>C (p.Phe92Leu)
c.61-6473T>C (n.61-6473T>C)
c.442-6473T>C (n.442-6473T>C)
2g.233760561T>GCA351066307UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6473T>G (n.856-6473T>G)
c.868-6473T>G (n.868-6473T>G)
c.862-6473T>G (n.862-6473T>G)
c.274T>G (p.Phe92Val)
c.61-6473T>G (n.61-6473T>G)
c.442-6473T>G (n.442-6473T>G)
2g.233760562T>ACA351066310UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6472T>A (n.856-6472T>A)
c.868-6472T>A (n.868-6472T>A)
c.862-6472T>A (n.862-6472T>A)
c.275T>A (p.Phe92Tyr)
c.61-6472T>A (n.61-6472T>A)
c.442-6472T>A (n.442-6472T>A)
2g.233760562T>CCA351066311UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6472T>C (n.856-6472T>C)
c.868-6472T>C (n.868-6472T>C)
c.862-6472T>C (n.862-6472T>C)
c.275T>C (p.Phe92Ser)
c.61-6472T>C (n.61-6472T>C)
c.442-6472T>C (n.442-6472T>C)
dbSNP gnomAD v2 gnomAD v4
2g.233760562T>GCA351066312UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6472T>G (n.856-6472T>G)
c.868-6472T>G (n.868-6472T>G)
c.862-6472T>G (n.862-6472T>G)
c.275T>G (p.Phe92Cys)
c.61-6472T>G (n.61-6472T>G)
c.442-6472T>G (n.442-6472T>G)
2g.233760562T=CA1335889219UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6472T= (n.856-6472T=)
c.868-6472T= (n.868-6472T=)
c.862-6472T= (n.862-6472T=)
c.275T= (p.Phe92=)
c.61-6472T= (n.61-6472T=)
c.442-6472T= (n.442-6472T=)
2g.233760563T>ACA351066313UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6471T>A (n.856-6471T>A)
c.868-6471T>A (n.868-6471T>A)
c.862-6471T>A (n.862-6471T>A)
c.276T>A (p.Phe92Leu)
c.61-6471T>A (n.61-6471T>A)
c.442-6471T>A (n.442-6471T>A)
2g.233760563T>CCA431960250UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6471T>C (n.856-6471T>C)
c.868-6471T>C (n.868-6471T>C)
c.862-6471T>C (n.862-6471T>C)
c.276T>C (p.Phe92=)
c.61-6471T>C (n.61-6471T>C)
c.442-6471T>C (n.442-6471T>C)
2g.233760563T>GCA351066314UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6471T>G (n.856-6471T>G)
c.868-6471T>G (n.868-6471T>G)
c.862-6471T>G (n.862-6471T>G)
c.276T>G (p.Phe92Leu)
c.61-6471T>G (n.61-6471T>G)
c.442-6471T>G (n.442-6471T>G)
2g.233760564G>ACA351066315UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6470G>A (n.856-6470G>A)
c.868-6470G>A (n.868-6470G>A)
c.862-6470G>A (n.862-6470G>A)
c.277G>A (p.Val93Ile)
c.61-6470G>A (n.61-6470G>A)
c.442-6470G>A (n.442-6470G>A)
2g.233760564G>CCA351066316UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6470G>C (n.856-6470G>C)
c.868-6470G>C (n.868-6470G>C)
c.862-6470G>C (n.862-6470G>C)
c.277G>C (p.Val93Leu)
c.61-6470G>C (n.61-6470G>C)
c.442-6470G>C (n.442-6470G>C)
gnomAD v4
2g.233760564G>TCA351066317UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6470G>T (n.856-6470G>T)
c.868-6470G>T (n.868-6470G>T)
c.862-6470G>T (n.862-6470G>T)
c.277G>T (p.Val93Phe)
c.61-6470G>T (n.61-6470G>T)
c.442-6470G>T (n.442-6470G>T)
2g.233760565T>ACA351066318UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6469T>A (n.856-6469T>A)
c.868-6469T>A (n.868-6469T>A)
c.862-6469T>A (n.862-6469T>A)
c.278T>A (p.Val93Asp)
c.61-6469T>A (n.61-6469T>A)
c.442-6469T>A (n.442-6469T>A)
dbSNP
2g.233760565T>CCA351066319UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6469T>C (n.856-6469T>C)
c.868-6469T>C (n.868-6469T>C)
c.862-6469T>C (n.862-6469T>C)
c.278T>C (p.Val93Ala)
c.61-6469T>C (n.61-6469T>C)
c.442-6469T>C (n.442-6469T>C)
dbSNP gnomAD v4
2g.233760565T>GCA351066320UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6469T>G (n.856-6469T>G)
c.868-6469T>G (n.868-6469T>G)
c.862-6469T>G (n.862-6469T>G)
c.278T>G (p.Val93Gly)
c.61-6469T>G (n.61-6469T>G)
c.442-6469T>G (n.442-6469T>G)
2g.233760566T>ACA431960256UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6468T>A (n.856-6468T>A)
c.868-6468T>A (n.868-6468T>A)
c.862-6468T>A (n.862-6468T>A)
c.279T>A (p.Val93=)
c.61-6468T>A (n.61-6468T>A)
c.442-6468T>A (n.442-6468T>A)
2g.233760566T>CCA431960257UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6468T>C (n.856-6468T>C)
c.868-6468T>C (n.868-6468T>C)
c.862-6468T>C (n.862-6468T>C)
c.279T>C (p.Val93=)
c.61-6468T>C (n.61-6468T>C)
c.442-6468T>C (n.442-6468T>C)
dbSNP
2g.233760566T>GCA431960255UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6468T>G (n.856-6468T>G)
c.868-6468T>G (n.868-6468T>G)
c.862-6468T>G (n.862-6468T>G)
c.279T>G (p.Val93=)
c.61-6468T>G (n.61-6468T>G)
c.442-6468T>G (n.442-6468T>G)
2g.233760567A=CA1335889221UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6467A= (n.856-6467A=)
c.868-6467A= (n.868-6467A=)
c.862-6467A= (n.862-6467A=)
c.280A= (p.Ser94=)
c.61-6467A= (n.61-6467A=)
c.442-6467A= (n.442-6467A=)
2g.233760567A>CCA351066321UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6467A>C (n.856-6467A>C)
c.868-6467A>C (n.868-6467A>C)
c.862-6467A>C (n.862-6467A>C)
c.280A>C (p.Ser94Arg)
c.61-6467A>C (n.61-6467A>C)
c.442-6467A>C (n.442-6467A>C)
2g.233760567A>GCA351066322UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6467A>G (n.856-6467A>G)
c.868-6467A>G (n.868-6467A>G)
c.862-6467A>G (n.862-6467A>G)
c.280A>G (p.Ser94Gly)
c.61-6467A>G (n.61-6467A>G)
c.442-6467A>G (n.442-6467A>G)
dbSNP gnomAD v3 gnomAD v4
2g.233760567A>TCA351066323UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6467A>T (n.856-6467A>T)
c.868-6467A>T (n.868-6467A>T)
c.862-6467A>T (n.862-6467A>T)
c.280A>T (p.Ser94Cys)
c.61-6467A>T (n.61-6467A>T)
c.442-6467A>T (n.442-6467A>T)
dbSNP
2g.233760568G>ACA351066325UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6466G>A (n.856-6466G>A)
c.868-6466G>A (n.868-6466G>A)
c.862-6466G>A (n.862-6466G>A)
c.281G>A (p.Ser94Asn)
c.61-6466G>A (n.61-6466G>A)
c.442-6466G>A (n.442-6466G>A)
dbSNP gnomAD v2 gnomAD v4
2g.233760568G>CCA351066326UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6466G>C (n.856-6466G>C)
c.868-6466G>C (n.868-6466G>C)
c.862-6466G>C (n.862-6466G>C)
c.281G>C (p.Ser94Thr)
c.61-6466G>C (n.61-6466G>C)
c.442-6466G>C (n.442-6466G>C)
dbSNP
2g.233760568G=CA1335889223UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6466G= (n.856-6466G=)
c.868-6466G= (n.868-6466G=)
c.862-6466G= (n.862-6466G=)
c.281G= (p.Ser94=)
c.61-6466G= (n.61-6466G=)
c.442-6466G= (n.442-6466G=)
2g.233760568G>TCA351066324UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6466G>T (n.856-6466G>T)
c.868-6466G>T (n.868-6466G>T)
c.862-6466G>T (n.862-6466G>T)
c.281G>T (p.Ser94Ile)
c.61-6466G>T (n.61-6466G>T)
c.442-6466G>T (n.442-6466G>T)
2g.233760569T>ACA351066327UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6465T>A (n.856-6465T>A)
c.868-6465T>A (n.868-6465T>A)
c.862-6465T>A (n.862-6465T>A)
c.282T>A (p.Ser94Arg)
c.61-6465T>A (n.61-6465T>A)
c.442-6465T>A (n.442-6465T>A)
dbSNP
2g.233760569T>CCA2179801UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6465T>C (n.856-6465T>C)
c.868-6465T>C (n.868-6465T>C)
c.862-6465T>C (n.862-6465T>C)
c.282T>C (p.Ser94=)
c.61-6465T>C (n.61-6465T>C)
c.442-6465T>C (n.442-6465T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760569T>GCA351066328UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6465T>G (n.856-6465T>G)
c.868-6465T>G (n.868-6465T>G)
c.862-6465T>G (n.862-6465T>G)
c.282T>G (p.Ser94Arg)
c.61-6465T>G (n.61-6465T>G)
c.442-6465T>G (n.442-6465T>G)
2g.233760569T=CA1335889228UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6465T= (n.856-6465T=)
c.868-6465T= (n.868-6465T=)
c.862-6465T= (n.862-6465T=)
c.282T= (p.Ser94=)
c.61-6465T= (n.61-6465T=)
c.442-6465T= (n.442-6465T=)
2g.233760570C>ACA351066329UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6464C>A (n.856-6464C>A)
c.868-6464C>A (n.868-6464C>A)
c.862-6464C>A (n.862-6464C>A)
c.283C>A (p.Leu95Ile)
c.61-6464C>A (n.61-6464C>A)
c.442-6464C>A (n.442-6464C>A)
dbSNP
2g.233760570C>GCA351066330UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6464C>G (n.856-6464C>G)
c.868-6464C>G (n.868-6464C>G)
c.862-6464C>G (n.862-6464C>G)
c.283C>G (p.Leu95Val)
c.61-6464C>G (n.61-6464C>G)
c.442-6464C>G (n.442-6464C>G)
dbSNP
2g.233760570C>TCA351066331UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6464C>T (n.856-6464C>T)
c.868-6464C>T (n.868-6464C>T)
c.862-6464C>T (n.862-6464C>T)
c.283C>T (p.Leu95Phe)
c.61-6464C>T (n.61-6464C>T)
c.442-6464C>T (n.442-6464C>T)
2g.233760571T>ACA351066332UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6463T>A (n.856-6463T>A)
c.868-6463T>A (n.868-6463T>A)
c.862-6463T>A (n.862-6463T>A)
c.284T>A (p.Leu95His)
c.61-6463T>A (n.61-6463T>A)
c.442-6463T>A (n.442-6463T>A)
dbSNP
2g.233760571T>CCA351066333UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6463T>C (n.856-6463T>C)
c.868-6463T>C (n.868-6463T>C)
c.862-6463T>C (n.862-6463T>C)
c.284T>C (p.Leu95Pro)
c.61-6463T>C (n.61-6463T>C)
c.442-6463T>C (n.442-6463T>C)
dbSNP
2g.233760571T>GCA351066334UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6463T>G (n.856-6463T>G)
c.868-6463T>G (n.868-6463T>G)
c.862-6463T>G (n.862-6463T>G)
c.284T>G (p.Leu95Arg)
c.61-6463T>G (n.61-6463T>G)
c.442-6463T>G (n.442-6463T>G)
2g.233760572C>ACA431960260UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6462C>A (n.856-6462C>A)
c.868-6462C>A (n.868-6462C>A)
c.862-6462C>A (n.862-6462C>A)
c.285C>A (p.Leu95=)
c.61-6462C>A (n.61-6462C>A)
c.442-6462C>A (n.442-6462C>A)
dbSNP
2g.233760572C=CA1335889229UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6462C= (n.856-6462C=)
c.868-6462C= (n.868-6462C=)
c.862-6462C= (n.862-6462C=)
c.285C= (p.Leu95=)
c.61-6462C= (n.61-6462C=)
c.442-6462C= (n.442-6462C=)
2g.233760572C>GCA431960262UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6462C>G (n.856-6462C>G)
c.868-6462C>G (n.868-6462C>G)
c.862-6462C>G (n.862-6462C>G)
c.285C>G (p.Leu95=)
c.61-6462C>G (n.61-6462C>G)
c.442-6462C>G (n.442-6462C>G)
dbSNP
2g.233760572C>TCA431960261UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6462C>T (n.856-6462C>T)
c.868-6462C>T (n.868-6462C>T)
c.862-6462C>T (n.862-6462C>T)
c.285C>T (p.Leu95=)
c.61-6462C>T (n.61-6462C>T)
c.442-6462C>T (n.442-6462C>T)
dbSNP gnomAD v3 gnomAD v4
2g.233760573G>ACA351066335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6461G>A (n.856-6461G>A)
c.868-6461G>A (n.868-6461G>A)
c.862-6461G>A (n.862-6461G>A)
c.286G>A (p.Gly96Arg)
c.61-6461G>A (n.61-6461G>A)
c.442-6461G>A (n.442-6461G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760573G>CCA351066336UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6461G>C (n.856-6461G>C)
c.868-6461G>C (n.868-6461G>C)
c.862-6461G>C (n.862-6461G>C)
c.286G>C (p.Gly96Arg)
c.61-6461G>C (n.61-6461G>C)
c.442-6461G>C (n.442-6461G>C)
dbSNP gnomAD v4 COSMIC
2g.233760573G=CA1335889231UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6461G= (n.856-6461G=)
c.868-6461G= (n.868-6461G=)
c.862-6461G= (n.862-6461G=)
c.286G= (p.Gly96=)
c.61-6461G= (n.61-6461G=)
c.442-6461G= (n.442-6461G=)
2g.233760573G>TCA351066337UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6461G>T (n.856-6461G>T)
c.868-6461G>T (n.868-6461G>T)
c.862-6461G>T (n.862-6461G>T)
c.286G>T (p.Gly96Trp)
c.61-6461G>T (n.61-6461G>T)
c.442-6461G>T (n.442-6461G>T)
2g.233760574G>ACA351066340UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6460G>A (n.856-6460G>A)
c.868-6460G>A (n.868-6460G>A)
c.862-6460G>A (n.862-6460G>A)
c.287G>A (p.Gly96Glu)
c.61-6460G>A (n.61-6460G>A)
c.442-6460G>A (n.442-6460G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233760574G>CCA351066339UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6460G>C (n.856-6460G>C)
c.868-6460G>C (n.868-6460G>C)
c.862-6460G>C (n.862-6460G>C)
c.287G>C (p.Gly96Ala)
c.61-6460G>C (n.61-6460G>C)
c.442-6460G>C (n.442-6460G>C)
dbSNP
2g.233760574G=CA1335889233UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6460G= (n.856-6460G=)
c.868-6460G= (n.868-6460G=)
c.862-6460G= (n.862-6460G=)
c.287G= (p.Gly96=)
c.61-6460G= (n.61-6460G=)
c.442-6460G= (n.442-6460G=)
2g.233760574G>TCA351066338UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6460G>T (n.856-6460G>T)
c.868-6460G>T (n.868-6460G>T)
c.862-6460G>T (n.862-6460G>T)
c.287G>T (p.Gly96Val)
c.61-6460G>T (n.61-6460G>T)
c.442-6460G>T (n.442-6460G>T)
dbSNP
2g.233760575G>ACA2179802UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6459G>A (n.856-6459G>A)
c.868-6459G>A (n.868-6459G>A)
c.862-6459G>A (n.862-6459G>A)
c.288G>A (p.Gly96=)
c.61-6459G>A (n.61-6459G>A)
c.442-6459G>A (n.442-6459G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760575G>CCA431960267UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6459G>C (n.856-6459G>C)
c.868-6459G>C (n.868-6459G>C)
c.862-6459G>C (n.862-6459G>C)
c.288G>C (p.Gly96=)
c.61-6459G>C (n.61-6459G>C)
c.442-6459G>C (n.442-6459G>C)
gnomAD v4
2g.233760575G=CA1335889237UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6459G= (n.856-6459G=)
c.868-6459G= (n.868-6459G=)
c.862-6459G= (n.862-6459G=)
c.288G= (p.Gly96=)
c.61-6459G= (n.61-6459G=)
c.442-6459G= (n.442-6459G=)
2g.233760575G>TCA431960269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6459G>T (n.856-6459G>T)
c.868-6459G>T (n.868-6459G>T)
c.862-6459G>T (n.862-6459G>T)
c.288G>T (p.Gly96=)
c.61-6459G>T (n.61-6459G>T)
c.442-6459G>T (n.442-6459G>T)
2g.233760576C>ACA351066341UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6458C>A (n.856-6458C>A)
c.868-6458C>A (n.868-6458C>A)
c.862-6458C>A (n.862-6458C>A)
c.289C>A (p.His97Asn)
c.61-6458C>A (n.61-6458C>A)
c.442-6458C>A (n.442-6458C>A)
dbSNP
2g.233760576C>GCA351066342UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6458C>G (n.856-6458C>G)
c.868-6458C>G (n.868-6458C>G)
c.862-6458C>G (n.862-6458C>G)
c.289C>G (p.His97Asp)
c.61-6458C>G (n.61-6458C>G)
c.442-6458C>G (n.442-6458C>G)
dbSNP
2g.233760576C>TCA351066343UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6458C>T (n.856-6458C>T)
c.868-6458C>T (n.868-6458C>T)
c.862-6458C>T (n.862-6458C>T)
c.289C>T (p.His97Tyr)
c.61-6458C>T (n.61-6458C>T)
c.442-6458C>T (n.442-6458C>T)
dbSNP
2g.233760577A=CA1335889240UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6457A= (n.856-6457A=)
c.868-6457A= (n.868-6457A=)
c.862-6457A= (n.862-6457A=)
c.290A= (p.His97=)
c.61-6457A= (n.61-6457A=)
c.442-6457A= (n.442-6457A=)
2g.233760577A>CCA351066344UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6457A>C (n.856-6457A>C)
c.868-6457A>C (n.868-6457A>C)
c.862-6457A>C (n.862-6457A>C)
c.290A>C (p.His97Pro)
c.61-6457A>C (n.61-6457A>C)
c.442-6457A>C (n.442-6457A>C)
2g.233760577A>GCA351066345UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6457A>G (n.856-6457A>G)
c.868-6457A>G (n.868-6457A>G)
c.862-6457A>G (n.862-6457A>G)
c.290A>G (p.His97Arg)
c.61-6457A>G (n.61-6457A>G)
c.442-6457A>G (n.442-6457A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760577A>TCA351066346UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6457A>T (n.856-6457A>T)
c.868-6457A>T (n.868-6457A>T)
c.862-6457A>T (n.862-6457A>T)
c.290A>T (p.His97Leu)
c.61-6457A>T (n.61-6457A>T)
c.442-6457A>T (n.442-6457A>T)
2g.233760579_233760581delCA2663717387UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6455_856-6453del (n.856-6455_856-6453del)
c.868-6455_868-6453del (n.868-6455_868-6453del)
c.862-6455_862-6453del (n.862-6455_862-6453del)
c.292_294del (p.Asn98del)
c.61-6455_61-6453del (n.61-6455_61-6453del)
c.442-6455_442-6453del (n.442-6455_442-6453del)
gnomAD v4
2g.233760578T>ACA351066347UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6456T>A (n.856-6456T>A)
c.868-6456T>A (n.868-6456T>A)
c.862-6456T>A (n.862-6456T>A)
c.291T>A (p.His97Gln)
c.61-6456T>A (n.61-6456T>A)
c.442-6456T>A (n.442-6456T>A)
dbSNP
2g.233760578T>CCA431960271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6456T>C (n.856-6456T>C)
c.868-6456T>C (n.868-6456T>C)
c.862-6456T>C (n.862-6456T>C)
c.291T>C (p.His97=)
c.61-6456T>C (n.61-6456T>C)
c.442-6456T>C (n.442-6456T>C)
dbSNP
2g.233760578T>GCA351066348UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6456T>G (n.856-6456T>G)
c.868-6456T>G (n.868-6456T>G)
c.862-6456T>G (n.862-6456T>G)
c.291T>G (p.His97Gln)
c.61-6456T>G (n.61-6456T>G)
c.442-6456T>G (n.442-6456T>G)
2g.233760579A>CCA351066349UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6455A>C (n.856-6455A>C)
c.868-6455A>C (n.868-6455A>C)
c.862-6455A>C (n.862-6455A>C)
c.292A>C (p.Asn98His)
c.61-6455A>C (n.61-6455A>C)
c.442-6455A>C (n.442-6455A>C)
2g.233760579A>GCA351066350UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6455A>G (n.856-6455A>G)
c.868-6455A>G (n.868-6455A>G)
c.862-6455A>G (n.862-6455A>G)
c.292A>G (p.Asn98Asp)
c.61-6455A>G (n.61-6455A>G)
c.442-6455A>G (n.442-6455A>G)
dbSNP gnomAD v4
2g.233760579A>TCA351066351UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6455A>T (n.856-6455A>T)
c.868-6455A>T (n.868-6455A>T)
c.862-6455A>T (n.862-6455A>T)
c.292A>T (p.Asn98Tyr)
c.61-6455A>T (n.61-6455A>T)
c.442-6455A>T (n.442-6455A>T)
gnomAD v4
2g.233760580A=CA1335889242UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6454A= (n.856-6454A=)
c.868-6454A= (n.868-6454A=)
c.862-6454A= (n.862-6454A=)
c.293A= (p.Asn98=)
c.61-6454A= (n.61-6454A=)
c.442-6454A= (n.442-6454A=)
2g.233760580A>CCA351066352UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6454A>C (n.856-6454A>C)
c.868-6454A>C (n.868-6454A>C)
c.862-6454A>C (n.862-6454A>C)
c.293A>C (p.Asn98Thr)
c.61-6454A>C (n.61-6454A>C)
c.442-6454A>C (n.442-6454A>C)
2g.233760580A>GCA351066354UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6454A>G (n.856-6454A>G)
c.868-6454A>G (n.868-6454A>G)
c.862-6454A>G (n.862-6454A>G)
c.293A>G (p.Asn98Ser)
c.61-6454A>G (n.61-6454A>G)
c.442-6454A>G (n.442-6454A>G)
gnomAD v4
2g.233760580A>TCA351066353UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6454A>T (n.856-6454A>T)
c.868-6454A>T (n.868-6454A>T)
c.862-6454A>T (n.862-6454A>T)
c.293A>T (p.Asn98Ile)
c.61-6454A>T (n.61-6454A>T)
c.442-6454A>T (n.442-6454A>T)
dbSNP gnomAD v3 gnomAD v4
2g.233760581T>ACA351066355UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6453T>A (n.856-6453T>A)
c.868-6453T>A (n.868-6453T>A)
c.862-6453T>A (n.862-6453T>A)
c.294T>A (p.Asn98Lys)
c.61-6453T>A (n.61-6453T>A)
c.442-6453T>A (n.442-6453T>A)
dbSNP
2g.233760581T>CCA2179803UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6453T>C (n.856-6453T>C)
c.868-6453T>C (n.868-6453T>C)
c.862-6453T>C (n.862-6453T>C)
c.294T>C (p.Asn98=)
c.61-6453T>C (n.61-6453T>C)
c.442-6453T>C (n.442-6453T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760581T>GCA351066356UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6453T>G (n.856-6453T>G)
c.868-6453T>G (n.868-6453T>G)
c.862-6453T>G (n.862-6453T>G)
c.294T>G (p.Asn98Lys)
c.61-6453T>G (n.61-6453T>G)
c.442-6453T>G (n.442-6453T>G)
2g.233760581T=CA1335889243UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6453T= (n.856-6453T=)
c.868-6453T= (n.868-6453T=)
c.862-6453T= (n.862-6453T=)
c.294T= (p.Asn98=)
c.61-6453T= (n.61-6453T=)
c.442-6453T= (n.442-6453T=)
2g.233760582G>ACA351066357UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6452G>A (n.856-6452G>A)
c.868-6452G>A (n.868-6452G>A)
c.862-6452G>A (n.862-6452G>A)
c.295G>A (p.Val99Ile)
c.61-6452G>A (n.61-6452G>A)
c.442-6452G>A (n.442-6452G>A)
2g.233760582G>CCA351066358UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6452G>C (n.856-6452G>C)
c.868-6452G>C (n.868-6452G>C)
c.862-6452G>C (n.862-6452G>C)
c.295G>C (p.Val99Leu)
c.61-6452G>C (n.61-6452G>C)
c.442-6452G>C (n.442-6452G>C)
2g.233760582G>TCA351066359UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6452G>T (n.856-6452G>T)
c.868-6452G>T (n.868-6452G>T)
c.862-6452G>T (n.862-6452G>T)
c.295G>T (p.Val99Phe)
c.61-6452G>T (n.61-6452G>T)
c.442-6452G>T (n.442-6452G>T)
2g.233760583T>ACA351066360UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6451T>A (n.856-6451T>A)
c.868-6451T>A (n.868-6451T>A)
c.862-6451T>A (n.862-6451T>A)
c.296T>A (p.Val99Asp)
c.61-6451T>A (n.61-6451T>A)
c.442-6451T>A (n.442-6451T>A)
2g.233760583T>CCA351066361UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6451T>C (n.856-6451T>C)
c.868-6451T>C (n.868-6451T>C)
c.862-6451T>C (n.862-6451T>C)
c.296T>C (p.Val99Ala)
c.61-6451T>C (n.61-6451T>C)
c.442-6451T>C (n.442-6451T>C)
2g.233760583T>GCA351066362UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6451T>G (n.856-6451T>G)
c.868-6451T>G (n.868-6451T>G)
c.862-6451T>G (n.862-6451T>G)
c.296T>G (p.Val99Gly)
c.61-6451T>G (n.61-6451T>G)
c.442-6451T>G (n.442-6451T>G)
2g.233760587delCA431960276UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447del (n.856-6447del)
c.868-6447del (n.868-6447del)
c.862-6447del (n.862-6447del)
c.300del (p.Phe100LeufsTer10)
c.61-6447del (n.61-6447del)
c.442-6447del (n.442-6447del)
ClinVar gnomAD v4
2g.233760584T>ACA431960281UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6450T>A (n.856-6450T>A)
c.868-6450T>A (n.868-6450T>A)
c.862-6450T>A (n.862-6450T>A)
c.297T>A (p.Val99=)
c.61-6450T>A (n.61-6450T>A)
c.442-6450T>A (n.442-6450T>A)
2g.233760584T>CCA431960280UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6450T>C (n.856-6450T>C)
c.868-6450T>C (n.868-6450T>C)
c.862-6450T>C (n.862-6450T>C)
c.297T>C (p.Val99=)
c.61-6450T>C (n.61-6450T>C)
c.442-6450T>C (n.442-6450T>C)
2g.233760584T>GCA431960282UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6450T>G (n.856-6450T>G)
c.868-6450T>G (n.868-6450T>G)
c.862-6450T>G (n.862-6450T>G)
c.297T>G (p.Val99=)
c.61-6450T>G (n.61-6450T>G)
c.442-6450T>G (n.442-6450T>G)
2g.233760585T>ACA351066365UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6449T>A (n.856-6449T>A)
c.868-6449T>A (n.868-6449T>A)
c.862-6449T>A (n.862-6449T>A)
c.298T>A (p.Phe100Ile)
c.61-6449T>A (n.61-6449T>A)
c.442-6449T>A (n.442-6449T>A)
dbSNP gnomAD v4
2g.233760585T>CCA351066364UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6449T>C (n.856-6449T>C)
c.868-6449T>C (n.868-6449T>C)
c.862-6449T>C (n.862-6449T>C)
c.298T>C (p.Phe100Leu)
c.61-6449T>C (n.61-6449T>C)
c.442-6449T>C (n.442-6449T>C)
2g.233760585T>GCA351066363UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6449T>G (n.856-6449T>G)
c.868-6449T>G (n.868-6449T>G)
c.862-6449T>G (n.862-6449T>G)
c.298T>G (p.Phe100Val)
c.61-6449T>G (n.61-6449T>G)
c.442-6449T>G (n.442-6449T>G)
2g.233760586T>ACA351066366UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6448T>A (n.856-6448T>A)
c.868-6448T>A (n.868-6448T>A)
c.862-6448T>A (n.862-6448T>A)
c.299T>A (p.Phe100Tyr)
c.61-6448T>A (n.61-6448T>A)
c.442-6448T>A (n.442-6448T>A)
2g.233760586T>CCA351066367UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6448T>C (n.856-6448T>C)
c.868-6448T>C (n.868-6448T>C)
c.862-6448T>C (n.862-6448T>C)
c.299T>C (p.Phe100Ser)
c.61-6448T>C (n.61-6448T>C)
c.442-6448T>C (n.442-6448T>C)
2g.233760586T>GCA351066368UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6448T>G (n.856-6448T>G)
c.868-6448T>G (n.868-6448T>G)
c.862-6448T>G (n.862-6448T>G)
c.299T>G (p.Phe100Cys)
c.61-6448T>G (n.61-6448T>G)
c.442-6448T>G (n.442-6448T>G)
gnomAD v4
2g.233760587T>ACA351066369UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447T>A (n.856-6447T>A)
c.868-6447T>A (n.868-6447T>A)
c.862-6447T>A (n.862-6447T>A)
c.300T>A (p.Phe100Leu)
c.61-6447T>A (n.61-6447T>A)
c.442-6447T>A (n.442-6447T>A)
2g.233760587T>CCA2179804UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447T>C (n.856-6447T>C)
c.868-6447T>C (n.868-6447T>C)
c.862-6447T>C (n.862-6447T>C)
c.300T>C (p.Phe100=)
c.61-6447T>C (n.61-6447T>C)
c.442-6447T>C (n.442-6447T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760587T>GCA351066370UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447T>G (n.856-6447T>G)
c.868-6447T>G (n.868-6447T>G)
c.862-6447T>G (n.862-6447T>G)
c.300T>G (p.Phe100Leu)
c.61-6447T>G (n.61-6447T>G)
c.442-6447T>G (n.442-6447T>G)
dbSNP
2g.233760587T=CA1335889245UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447T= (n.856-6447T=)
c.868-6447T= (n.868-6447T=)
c.862-6447T= (n.862-6447T=)
c.300T= (p.Phe100=)
c.61-6447T= (n.61-6447T=)
c.442-6447T= (n.442-6447T=)
2g.233760588G>ACA351066373UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6446G>A (n.856-6446G>A)
c.868-6446G>A (n.868-6446G>A)
c.862-6446G>A (n.862-6446G>A)
c.301G>A (p.Glu101Lys)
c.61-6446G>A (n.61-6446G>A)
c.442-6446G>A (n.442-6446G>A)
dbSNP
2g.233760588G>CCA351066371UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6446G>C (n.856-6446G>C)
c.868-6446G>C (n.868-6446G>C)
c.862-6446G>C (n.862-6446G>C)
c.301G>C (p.Glu101Gln)
c.61-6446G>C (n.61-6446G>C)
c.442-6446G>C (n.442-6446G>C)
dbSNP
2g.233760588G>TCA351066372UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6446G>T (n.856-6446G>T)
c.868-6446G>T (n.868-6446G>T)
c.862-6446G>T (n.862-6446G>T)
c.301G>T (p.Glu101Ter)
c.61-6446G>T (n.61-6446G>T)
c.442-6446G>T (n.442-6446G>T)
2g.233760589A>CCA351066374UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6445A>C (n.856-6445A>C)
c.868-6445A>C (n.868-6445A>C)
c.862-6445A>C (n.862-6445A>C)
c.302A>C (p.Glu101Ala)
c.61-6445A>C (n.61-6445A>C)
c.442-6445A>C (n.442-6445A>C)
2g.233760589A>GCA351066375UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6445A>G (n.856-6445A>G)
c.868-6445A>G (n.868-6445A>G)
c.862-6445A>G (n.862-6445A>G)
c.302A>G (p.Glu101Gly)
c.61-6445A>G (n.61-6445A>G)
c.442-6445A>G (n.442-6445A>G)
dbSNP
2g.233760589A>TCA351066376UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6445A>T (n.856-6445A>T)
c.868-6445A>T (n.868-6445A>T)
c.862-6445A>T (n.862-6445A>T)
c.302A>T (p.Glu101Val)
c.61-6445A>T (n.61-6445A>T)
c.442-6445A>T (n.442-6445A>T)
gnomAD v4
2g.233760590G>ACA431960287UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6444G>A (n.856-6444G>A)
c.868-6444G>A (n.868-6444G>A)
c.862-6444G>A (n.862-6444G>A)
c.303G>A (p.Glu101=)
c.61-6444G>A (n.61-6444G>A)
c.442-6444G>A (n.442-6444G>A)
2g.233760590G>CCA351066377UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6444G>C (n.856-6444G>C)
c.868-6444G>C (n.868-6444G>C)
c.862-6444G>C (n.862-6444G>C)
c.303G>C (p.Glu101Asp)
c.61-6444G>C (n.61-6444G>C)
c.442-6444G>C (n.442-6444G>C)
2g.233760590G>TCA351066378UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6444G>T (n.856-6444G>T)
c.868-6444G>T (n.868-6444G>T)
c.862-6444G>T (n.862-6444G>T)
c.303G>T (p.Glu101Asp)
c.61-6444G>T (n.61-6444G>T)
c.442-6444G>T (n.442-6444G>T)
COSMIC
2g.233760591A>CCA351066379UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6443A>C (n.856-6443A>C)
c.868-6443A>C (n.868-6443A>C)
c.862-6443A>C (n.862-6443A>C)
c.304A>C (p.Asn102His)
c.61-6443A>C (n.61-6443A>C)
c.442-6443A>C (n.442-6443A>C)
2g.233760591A>GCA351066380UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6443A>G (n.856-6443A>G)
c.868-6443A>G (n.868-6443A>G)
c.862-6443A>G (n.862-6443A>G)
c.304A>G (p.Asn102Asp)
c.61-6443A>G (n.61-6443A>G)
c.442-6443A>G (n.442-6443A>G)
2g.233760591A>TCA351066381UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6443A>T (n.856-6443A>T)
c.868-6443A>T (n.868-6443A>T)
c.862-6443A>T (n.862-6443A>T)
c.304A>T (p.Asn102Tyr)
c.61-6443A>T (n.61-6443A>T)
c.442-6443A>T (n.442-6443A>T)
2g.233760592A>CCA351066382UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6442A>C (n.856-6442A>C)
c.868-6442A>C (n.868-6442A>C)
c.862-6442A>C (n.862-6442A>C)
c.305A>C (p.Asn102Thr)
c.61-6442A>C (n.61-6442A>C)
c.442-6442A>C (n.442-6442A>C)
2g.233760592A>GCA351066383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6442A>G (n.856-6442A>G)
c.868-6442A>G (n.868-6442A>G)
c.862-6442A>G (n.862-6442A>G)
c.305A>G (p.Asn102Ser)
c.61-6442A>G (n.61-6442A>G)
c.442-6442A>G (n.442-6442A>G)
dbSNP gnomAD v4
2g.233760592A>TCA351066384UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6442A>T (n.856-6442A>T)
c.868-6442A>T (n.868-6442A>T)
c.862-6442A>T (n.862-6442A>T)
c.305A>T (p.Asn102Ile)
c.61-6442A>T (n.61-6442A>T)
c.442-6442A>T (n.442-6442A>T)
2g.233760593T>ACA351066385UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6441T>A (n.856-6441T>A)
c.868-6441T>A (n.868-6441T>A)
c.862-6441T>A (n.862-6441T>A)
c.306T>A (p.Asn102Lys)
c.61-6441T>A (n.61-6441T>A)
c.442-6441T>A (n.442-6441T>A)
dbSNP
2g.233760593T>CCA431960292UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6441T>C (n.856-6441T>C)
c.868-6441T>C (n.868-6441T>C)
c.862-6441T>C (n.862-6441T>C)
c.306T>C (p.Asn102=)
c.61-6441T>C (n.61-6441T>C)
c.442-6441T>C (n.442-6441T>C)
2g.233760593T>GCA351066386UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6441T>G (n.856-6441T>G)
c.868-6441T>G (n.868-6441T>G)
c.862-6441T>G (n.862-6441T>G)
c.306T>G (p.Asn102Lys)
c.61-6441T>G (n.61-6441T>G)
c.442-6441T>G (n.442-6441T>G)
2g.233760594G>ACA351066387UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6440G>A (n.856-6440G>A)
c.868-6440G>A (n.868-6440G>A)
c.862-6440G>A (n.862-6440G>A)
c.307G>A (p.Asp103Asn)
c.61-6440G>A (n.61-6440G>A)
c.442-6440G>A (n.442-6440G>A)
dbSNP COSMIC
2g.233760594G>CCA351066389UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6440G>C (n.856-6440G>C)
c.868-6440G>C (n.868-6440G>C)
c.862-6440G>C (n.862-6440G>C)
c.307G>C (p.Asp103His)
c.61-6440G>C (n.61-6440G>C)
c.442-6440G>C (n.442-6440G>C)
dbSNP
2g.233760594G>TCA351066388UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6440G>T (n.856-6440G>T)
c.868-6440G>T (n.868-6440G>T)
c.862-6440G>T (n.862-6440G>T)
c.307G>T (p.Asp103Tyr)
c.61-6440G>T (n.61-6440G>T)
c.442-6440G>T (n.442-6440G>T)
gnomAD v4 COSMIC COSMIC
2g.233760595A>CCA351066390UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6439A>C (n.856-6439A>C)
c.868-6439A>C (n.868-6439A>C)
c.862-6439A>C (n.862-6439A>C)
c.308A>C (p.Asp103Ala)
c.61-6439A>C (n.61-6439A>C)
c.442-6439A>C (n.442-6439A>C)
2g.233760595A>GCA351066391UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6439A>G (n.856-6439A>G)
c.868-6439A>G (n.868-6439A>G)
c.862-6439A>G (n.862-6439A>G)
c.308A>G (p.Asp103Gly)
c.61-6439A>G (n.61-6439A>G)
c.442-6439A>G (n.442-6439A>G)
2g.233760595A>TCA351066392UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6439A>T (n.856-6439A>T)
c.868-6439A>T (n.868-6439A>T)
c.862-6439A>T (n.862-6439A>T)
c.308A>T (p.Asp103Val)
c.61-6439A>T (n.61-6439A>T)
c.442-6439A>T (n.442-6439A>T)
2g.233760596T>ACA351066393UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6438T>A (n.856-6438T>A)
c.868-6438T>A (n.868-6438T>A)
c.862-6438T>A (n.862-6438T>A)
c.309T>A (p.Asp103Glu)
c.61-6438T>A (n.61-6438T>A)
c.442-6438T>A (n.442-6438T>A)
2g.233760596T>CCA431960293UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6438T>C (n.856-6438T>C)
c.868-6438T>C (n.868-6438T>C)
c.862-6438T>C (n.862-6438T>C)
c.309T>C (p.Asp103=)
c.61-6438T>C (n.61-6438T>C)
c.442-6438T>C (n.442-6438T>C)
2g.233760596T>GCA351066394UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6438T>G (n.856-6438T>G)
c.868-6438T>G (n.868-6438T>G)
c.862-6438T>G (n.862-6438T>G)
c.309T>G (p.Asp103Glu)
c.61-6438T>G (n.61-6438T>G)
c.442-6438T>G (n.442-6438T>G)
2g.233760597T>ACA351066396UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6437T>A (n.856-6437T>A)
c.868-6437T>A (n.868-6437T>A)
c.862-6437T>A (n.862-6437T>A)
c.310T>A (p.Ser104Thr)
c.61-6437T>A (n.61-6437T>A)
c.442-6437T>A (n.442-6437T>A)
dbSNP
2g.233760597T>CCA351066395UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6437T>C (n.856-6437T>C)
c.868-6437T>C (n.868-6437T>C)
c.862-6437T>C (n.862-6437T>C)
c.310T>C (p.Ser104Pro)
c.61-6437T>C (n.61-6437T>C)
c.442-6437T>C (n.442-6437T>C)
2g.233760597T>GCA2179805UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6437T>G (n.856-6437T>G)
c.868-6437T>G (n.868-6437T>G)
c.862-6437T>G (n.862-6437T>G)
c.310T>G (p.Ser104Ala)
c.61-6437T>G (n.61-6437T>G)
c.442-6437T>G (n.442-6437T>G)
dbSNP ExAC gnomAD v2
2g.233760597T=CA1335889247UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6437T= (n.856-6437T=)
c.868-6437T= (n.868-6437T=)
c.862-6437T= (n.862-6437T=)
c.310T= (p.Ser104=)
c.61-6437T= (n.61-6437T=)
c.442-6437T= (n.442-6437T=)
2g.233760598C>ACA351066397UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6436C>A (n.856-6436C>A)
c.868-6436C>A (n.868-6436C>A)
c.862-6436C>A (n.862-6436C>A)
c.311C>A (p.Ser104Tyr)
c.61-6436C>A (n.61-6436C>A)
c.442-6436C>A (n.442-6436C>A)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.233760598C=CA1335889249UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6436C= (n.856-6436C=)
c.868-6436C= (n.868-6436C=)
c.862-6436C= (n.862-6436C=)
c.311C= (p.Ser104=)
c.61-6436C= (n.61-6436C=)
c.442-6436C= (n.442-6436C=)
2g.233760598C>GCA351066398UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6436C>G (n.856-6436C>G)
c.868-6436C>G (n.868-6436C>G)
c.862-6436C>G (n.862-6436C>G)
c.311C>G (p.Ser104Cys)
c.61-6436C>G (n.61-6436C>G)
c.442-6436C>G (n.442-6436C>G)
dbSNP
2g.233760598C>TCA351066399UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6436C>T (n.856-6436C>T)
c.868-6436C>T (n.868-6436C>T)
c.862-6436C>T (n.862-6436C>T)
c.311C>T (p.Ser104Phe)
c.61-6436C>T (n.61-6436C>T)
c.442-6436C>T (n.442-6436C>T)
2g.233760599T>ACA431960296UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6435T>A (n.856-6435T>A)
c.868-6435T>A (n.868-6435T>A)
c.862-6435T>A (n.862-6435T>A)
c.312T>A (p.Ser104=)
c.61-6435T>A (n.61-6435T>A)
c.442-6435T>A (n.442-6435T>A)
2g.233760599T>CCA431960297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6435T>C (n.856-6435T>C)
c.868-6435T>C (n.868-6435T>C)
c.862-6435T>C (n.862-6435T>C)
c.312T>C (p.Ser104=)
c.61-6435T>C (n.61-6435T>C)
c.442-6435T>C (n.442-6435T>C)
2g.233760599T>GCA431960298UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6435T>G (n.856-6435T>G)
c.868-6435T>G (n.868-6435T>G)
c.862-6435T>G (n.862-6435T>G)
c.312T>G (p.Ser104=)
c.61-6435T>G (n.61-6435T>G)
c.442-6435T>G (n.442-6435T>G)
2g.233760600T>ACA351066400UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6434T>A (n.856-6434T>A)
c.868-6434T>A (n.868-6434T>A)
c.862-6434T>A (n.862-6434T>A)
c.313T>A (p.Phe105Ile)
c.61-6434T>A (n.61-6434T>A)
c.442-6434T>A (n.442-6434T>A)
dbSNP
2g.233760600T>CCA351066401UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6434T>C (n.856-6434T>C)
c.868-6434T>C (n.868-6434T>C)
c.862-6434T>C (n.862-6434T>C)
c.313T>C (p.Phe105Leu)
c.61-6434T>C (n.61-6434T>C)
c.442-6434T>C (n.442-6434T>C)
2g.233760600T>GCA351066402UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6434T>G (n.856-6434T>G)
c.868-6434T>G (n.868-6434T>G)
c.862-6434T>G (n.862-6434T>G)
c.313T>G (p.Phe105Val)
c.61-6434T>G (n.61-6434T>G)
c.442-6434T>G (n.442-6434T>G)
2g.233760601T>ACA351066403UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6433T>A (n.856-6433T>A)
c.868-6433T>A (n.868-6433T>A)
c.862-6433T>A (n.862-6433T>A)
c.314T>A (p.Phe105Tyr)
c.61-6433T>A (n.61-6433T>A)
c.442-6433T>A (n.442-6433T>A)
2g.233760601T>CCA351066405UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6433T>C (n.856-6433T>C)
c.868-6433T>C (n.868-6433T>C)
c.862-6433T>C (n.862-6433T>C)
c.314T>C (p.Phe105Ser)
c.61-6433T>C (n.61-6433T>C)
c.442-6433T>C (n.442-6433T>C)
2g.233760601T>GCA351066404UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6433T>G (n.856-6433T>G)
c.868-6433T>G (n.868-6433T>G)
c.862-6433T>G (n.862-6433T>G)
c.314T>G (p.Phe105Cys)
c.61-6433T>G (n.61-6433T>G)
c.442-6433T>G (n.442-6433T>G)
2g.233760602C>ACA351066406UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6432C>A (n.856-6432C>A)
c.868-6432C>A (n.868-6432C>A)
c.862-6432C>A (n.862-6432C>A)
c.315C>A (p.Phe105Leu)
c.61-6432C>A (n.61-6432C>A)
c.442-6432C>A (n.442-6432C>A)
dbSNP
2g.233760602C>GCA351066407UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6432C>G (n.856-6432C>G)
c.868-6432C>G (n.868-6432C>G)
c.862-6432C>G (n.862-6432C>G)
c.315C>G (p.Phe105Leu)
c.61-6432C>G (n.61-6432C>G)
c.442-6432C>G (n.442-6432C>G)
dbSNP
2g.233760602C>TCA431960299UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6432C>T (n.856-6432C>T)
c.868-6432C>T (n.868-6432C>T)
c.862-6432C>T (n.862-6432C>T)
c.315C>T (p.Phe105=)
c.61-6432C>T (n.61-6432C>T)
c.442-6432C>T (n.442-6432C>T)
2g.233760603C>ACA351066408UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6431C>A (n.856-6431C>A)
c.868-6431C>A (n.868-6431C>A)
c.862-6431C>A (n.862-6431C>A)
c.316C>A (p.Leu106Met)
c.61-6431C>A (n.61-6431C>A)
c.442-6431C>A (n.442-6431C>A)
2g.233760603C>GCA351066409UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6431C>G (n.856-6431C>G)
c.868-6431C>G (n.868-6431C>G)
c.862-6431C>G (n.862-6431C>G)
c.316C>G (p.Leu106Val)
c.61-6431C>G (n.61-6431C>G)
c.442-6431C>G (n.442-6431C>G)
2g.233760603C>TCA431960302UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6431C>T (n.856-6431C>T)
c.868-6431C>T (n.868-6431C>T)
c.862-6431C>T (n.862-6431C>T)
c.316C>T (p.Leu106=)
c.61-6431C>T (n.61-6431C>T)
c.442-6431C>T (n.442-6431C>T)
gnomAD v4
2g.233760604T>ACA351066410UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6430T>A (n.856-6430T>A)
c.868-6430T>A (n.868-6430T>A)
c.862-6430T>A (n.862-6430T>A)
c.317T>A (p.Leu106Gln)
c.61-6430T>A (n.61-6430T>A)
c.442-6430T>A (n.442-6430T>A)
dbSNP
2g.233760604T>CCA351066411UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6430T>C (n.856-6430T>C)
c.868-6430T>C (n.868-6430T>C)
c.862-6430T>C (n.862-6430T>C)
c.317T>C (p.Leu106Pro)
c.61-6430T>C (n.61-6430T>C)
c.442-6430T>C (n.442-6430T>C)
2g.233760604T>GCA351066412UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6430T>G (n.856-6430T>G)
c.868-6430T>G (n.868-6430T>G)
c.862-6430T>G (n.862-6430T>G)
c.317T>G (p.Leu106Arg)
c.61-6430T>G (n.61-6430T>G)
c.442-6430T>G (n.442-6430T>G)
2g.233760605G>ACA431960304UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6429G>A (n.856-6429G>A)
c.868-6429G>A (n.868-6429G>A)
c.862-6429G>A (n.862-6429G>A)
c.318G>A (p.Leu106=)
c.61-6429G>A (n.61-6429G>A)
c.442-6429G>A (n.442-6429G>A)
dbSNP
2g.233760605G>CCA431960305UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6429G>C (n.856-6429G>C)
c.868-6429G>C (n.868-6429G>C)
c.862-6429G>C (n.862-6429G>C)
c.318G>C (p.Leu106=)
c.61-6429G>C (n.61-6429G>C)
c.442-6429G>C (n.442-6429G>C)
2g.233760605G>TCA431960306UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6429G>T (n.856-6429G>T)
c.868-6429G>T (n.868-6429G>T)
c.862-6429G>T (n.862-6429G>T)
c.318G>T (p.Leu106=)
c.61-6429G>T (n.61-6429G>T)
c.442-6429G>T (n.442-6429G>T)
2g.233760606C>ACA351066413UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6428C>A (n.856-6428C>A)
c.868-6428C>A (n.868-6428C>A)
c.862-6428C>A (n.862-6428C>A)
c.319C>A (p.Gln107Lys)
c.61-6428C>A (n.61-6428C>A)
c.442-6428C>A (n.442-6428C>A)
dbSNP
2g.233760606C>GCA351066414UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6428C>G (n.856-6428C>G)
c.868-6428C>G (n.868-6428C>G)
c.862-6428C>G (n.862-6428C>G)
c.319C>G (p.Gln107Glu)
c.61-6428C>G (n.61-6428C>G)
c.442-6428C>G (n.442-6428C>G)
dbSNP
2g.233760606C>TCA351066415UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6428C>T (n.856-6428C>T)
c.868-6428C>T (n.868-6428C>T)
c.862-6428C>T (n.862-6428C>T)
c.319C>T (p.Gln107Ter)
c.61-6428C>T (n.61-6428C>T)
c.442-6428C>T (n.442-6428C>T)
dbSNP
2g.233760607A>CCA351066416UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6427A>C (n.856-6427A>C)
c.868-6427A>C (n.868-6427A>C)
c.862-6427A>C (n.862-6427A>C)
c.320A>C (p.Gln107Pro)
c.61-6427A>C (n.61-6427A>C)
c.442-6427A>C (n.442-6427A>C)
2g.233760607A>GCA351066418UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6427A>G (n.856-6427A>G)
c.868-6427A>G (n.868-6427A>G)
c.862-6427A>G (n.862-6427A>G)
c.320A>G (p.Gln107Arg)
c.61-6427A>G (n.61-6427A>G)
c.442-6427A>G (n.442-6427A>G)
2g.233760607A>TCA351066417UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6427A>T (n.856-6427A>T)
c.868-6427A>T (n.868-6427A>T)
c.862-6427A>T (n.862-6427A>T)
c.320A>T (p.Gln107Leu)
c.61-6427A>T (n.61-6427A>T)
c.442-6427A>T (n.442-6427A>T)
2g.233760608G>ACA431960308UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6426G>A (n.856-6426G>A)
c.868-6426G>A (n.868-6426G>A)
c.862-6426G>A (n.862-6426G>A)
c.321G>A (p.Gln107=)
c.61-6426G>A (n.61-6426G>A)
c.442-6426G>A (n.442-6426G>A)
dbSNP
2g.233760608G>CCA351066419UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6426G>C (n.856-6426G>C)
c.868-6426G>C (n.868-6426G>C)
c.862-6426G>C (n.862-6426G>C)
c.321G>C (p.Gln107His)
c.61-6426G>C (n.61-6426G>C)
c.442-6426G>C (n.442-6426G>C)
2g.233760608G>TCA351066420UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6426G>T (n.856-6426G>T)
c.868-6426G>T (n.868-6426G>T)
c.862-6426G>T (n.862-6426G>T)
c.321G>T (p.Gln107His)
c.61-6426G>T (n.61-6426G>T)
c.442-6426G>T (n.442-6426G>T)
2g.233760609C>ACA351066421UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6425C>A (n.856-6425C>A)
c.868-6425C>A (n.868-6425C>A)
c.862-6425C>A (n.862-6425C>A)
c.322C>A (p.Arg108Ser)
c.61-6425C>A (n.61-6425C>A)
c.442-6425C>A (n.442-6425C>A)
2g.233760609C=CA1335889251UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6425C= (n.856-6425C=)
c.868-6425C= (n.868-6425C=)
c.862-6425C= (n.862-6425C=)
c.322C= (p.Arg108=)
c.61-6425C= (n.61-6425C=)
c.442-6425C= (n.442-6425C=)
2g.233760609C>GCA351066422UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6425C>G (n.856-6425C>G)
c.868-6425C>G (n.868-6425C>G)
c.862-6425C>G (n.862-6425C>G)
c.322C>G (p.Arg108Gly)
c.61-6425C>G (n.61-6425C>G)
c.442-6425C>G (n.442-6425C>G)
2g.233760609C>TCA173874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6425C>T (n.856-6425C>T)
c.868-6425C>T (n.868-6425C>T)
c.862-6425C>T (n.862-6425C>T)
c.322C>T (p.Arg108Cys)
c.61-6425C>T (n.61-6425C>T)
c.442-6425C>T (n.442-6425C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760610G>ACA351066425UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6424G>A (n.856-6424G>A)
c.868-6424G>A (n.868-6424G>A)
c.862-6424G>A (n.862-6424G>A)
c.323G>A (p.Arg108His)
c.61-6424G>A (n.61-6424G>A)
c.442-6424G>A (n.442-6424G>A)
gnomAD v4 COSMIC
2g.233760610G>CCA351066424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6424G>C (n.856-6424G>C)
c.868-6424G>C (n.868-6424G>C)
c.862-6424G>C (n.862-6424G>C)
c.323G>C (p.Arg108Pro)
c.61-6424G>C (n.61-6424G>C)
c.442-6424G>C (n.442-6424G>C)
gnomAD v4
2g.233760610G=CA1335889254UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6424G= (n.856-6424G=)
c.868-6424G= (n.868-6424G=)
c.862-6424G= (n.862-6424G=)
c.323G= (p.Arg108=)
c.61-6424G= (n.61-6424G=)
c.442-6424G= (n.442-6424G=)
2g.233760610G>TCA351066423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6424G>T (n.856-6424G>T)
c.868-6424G>T (n.868-6424G>T)
c.862-6424G>T (n.862-6424G>T)
c.323G>T (p.Arg108Leu)
c.61-6424G>T (n.61-6424G>T)
c.442-6424G>T (n.442-6424G>T)
dbSNP gnomAD v4
2g.233760611T>ACA431960313UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6423T>A (n.856-6423T>A)
c.868-6423T>A (n.868-6423T>A)
c.862-6423T>A (n.862-6423T>A)
c.324T>A (p.Arg108=)
c.61-6423T>A (n.61-6423T>A)
c.442-6423T>A (n.442-6423T>A)
2g.233760611T>CCA431960314UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6423T>C (n.856-6423T>C)
c.868-6423T>C (n.868-6423T>C)
c.862-6423T>C (n.862-6423T>C)
c.324T>C (p.Arg108=)
c.61-6423T>C (n.61-6423T>C)
c.442-6423T>C (n.442-6423T>C)
2g.233760611T>GCA431960312UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6423T>G (n.856-6423T>G)
c.868-6423T>G (n.868-6423T>G)
c.862-6423T>G (n.862-6423T>G)
c.324T>G (p.Arg108=)
c.61-6423T>G (n.61-6423T>G)
c.442-6423T>G (n.442-6423T>G)
2g.233760612G>ACA351066426UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6422G>A (n.856-6422G>A)
c.868-6422G>A (n.868-6422G>A)
c.862-6422G>A (n.862-6422G>A)
c.325G>A (p.Val109Met)
c.61-6422G>A (n.61-6422G>A)
c.442-6422G>A (n.442-6422G>A)
COSMIC COSMIC
2g.233760612G>CCA351066427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6422G>C (n.856-6422G>C)
c.868-6422G>C (n.868-6422G>C)
c.862-6422G>C (n.862-6422G>C)
c.325G>C (p.Val109Leu)
c.61-6422G>C (n.61-6422G>C)
c.442-6422G>C (n.442-6422G>C)
gnomAD v4
2g.233760612G>TCA351066428UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6422G>T (n.856-6422G>T)
c.868-6422G>T (n.868-6422G>T)
c.862-6422G>T (n.862-6422G>T)
c.325G>T (p.Val109Leu)
c.61-6422G>T (n.61-6422G>T)
c.442-6422G>T (n.442-6422G>T)
2g.233760613T>ACA351066429UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6421T>A (n.856-6421T>A)
c.868-6421T>A (n.868-6421T>A)
c.862-6421T>A (n.862-6421T>A)
c.326T>A (p.Val109Glu)
c.61-6421T>A (n.61-6421T>A)
c.442-6421T>A (n.442-6421T>A)
2g.233760613T>CCA2179806UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6421T>C (n.856-6421T>C)
c.868-6421T>C (n.868-6421T>C)
c.862-6421T>C (n.862-6421T>C)
c.326T>C (p.Val109Ala)
c.61-6421T>C (n.61-6421T>C)
c.442-6421T>C (n.442-6421T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760613T>GCA351066430UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6421T>G (n.856-6421T>G)
c.868-6421T>G (n.868-6421T>G)
c.862-6421T>G (n.862-6421T>G)
c.326T>G (p.Val109Gly)
c.61-6421T>G (n.61-6421T>G)
c.442-6421T>G (n.442-6421T>G)
2g.233760613T=CA1335889257UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6421T= (n.856-6421T=)
c.868-6421T= (n.868-6421T=)
c.862-6421T= (n.862-6421T=)
c.326T= (p.Val109=)
c.61-6421T= (n.61-6421T=)
c.442-6421T= (n.442-6421T=)
2g.233760614G>ACA431960316UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6420G>A (n.856-6420G>A)
c.868-6420G>A (n.868-6420G>A)
c.862-6420G>A (n.862-6420G>A)
c.327G>A (p.Val109=)
c.61-6420G>A (n.61-6420G>A)
c.442-6420G>A (n.442-6420G>A)
2g.233760614G>CCA431960317UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6420G>C (n.856-6420G>C)
c.868-6420G>C (n.868-6420G>C)
c.862-6420G>C (n.862-6420G>C)
c.327G>C (p.Val109=)
c.61-6420G>C (n.61-6420G>C)
c.442-6420G>C (n.442-6420G>C)
2g.233760614G>TCA431960315UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6420G>T (n.856-6420G>T)
c.868-6420G>T (n.868-6420G>T)
c.862-6420G>T (n.862-6420G>T)
c.327G>T (p.Val109=)
c.61-6420G>T (n.61-6420G>T)
c.442-6420G>T (n.442-6420G>T)
2g.233760615A>CCA351066433UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6419A>C (n.856-6419A>C)
c.868-6419A>C (n.868-6419A>C)
c.862-6419A>C (n.862-6419A>C)
c.328A>C (p.Ile110Leu)
c.61-6419A>C (n.61-6419A>C)
c.442-6419A>C (n.442-6419A>C)
2g.233760615A>GCA351066431UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6419A>G (n.856-6419A>G)
c.868-6419A>G (n.868-6419A>G)
c.862-6419A>G (n.862-6419A>G)
c.328A>G (p.Ile110Val)
c.61-6419A>G (n.61-6419A>G)
c.442-6419A>G (n.442-6419A>G)
2g.233760615A>TCA351066432UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6419A>T (n.856-6419A>T)
c.868-6419A>T (n.868-6419A>T)
c.862-6419A>T (n.862-6419A>T)
c.328A>T (p.Ile110Phe)
c.61-6419A>T (n.61-6419A>T)
c.442-6419A>T (n.442-6419A>T)
2g.233760616T>ACA351066434UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6418T>A (n.856-6418T>A)
c.868-6418T>A (n.868-6418T>A)
c.862-6418T>A (n.862-6418T>A)
c.329T>A (p.Ile110Asn)
c.61-6418T>A (n.61-6418T>A)
c.442-6418T>A (n.442-6418T>A)
2g.233760616T>CCA351066435UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6418T>C (n.856-6418T>C)
c.868-6418T>C (n.868-6418T>C)
c.862-6418T>C (n.862-6418T>C)
c.329T>C (p.Ile110Thr)
c.61-6418T>C (n.61-6418T>C)
c.442-6418T>C (n.442-6418T>C)
2g.233760616T>GCA351066436UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6418T>G (n.856-6418T>G)
c.868-6418T>G (n.868-6418T>G)
c.862-6418T>G (n.862-6418T>G)
c.329T>G (p.Ile110Ser)
c.61-6418T>G (n.61-6418T>G)
c.442-6418T>G (n.442-6418T>G)
2g.233760617C>ACA431960322UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6417C>A (n.856-6417C>A)
c.868-6417C>A (n.868-6417C>A)
c.862-6417C>A (n.862-6417C>A)
c.330C>A (p.Ile110=)
c.61-6417C>A (n.61-6417C>A)
c.442-6417C>A (n.442-6417C>A)
2g.233760617C>GCA351066437UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6417C>G (n.856-6417C>G)
c.868-6417C>G (n.868-6417C>G)
c.862-6417C>G (n.862-6417C>G)
c.330C>G (p.Ile110Met)
c.61-6417C>G (n.61-6417C>G)
c.442-6417C>G (n.442-6417C>G)
2g.233760617C>TCA431960323UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6417C>T (n.856-6417C>T)
c.868-6417C>T (n.868-6417C>T)
c.862-6417C>T (n.862-6417C>T)
c.330C>T (p.Ile110=)
c.61-6417C>T (n.61-6417C>T)
c.442-6417C>T (n.442-6417C>T)
COSMIC COSMIC
2g.233760618A=CA1335889259UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6416A= (n.856-6416A=)
c.868-6416A= (n.868-6416A=)
c.862-6416A= (n.862-6416A=)
c.331A= (p.Lys111=)
c.61-6416A= (n.61-6416A=)
c.442-6416A= (n.442-6416A=)
2g.233760618A>CCA67589794UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6416A>C (n.856-6416A>C)
c.868-6416A>C (n.868-6416A>C)
c.862-6416A>C (n.862-6416A>C)
c.331A>C (p.Lys111Gln)
c.61-6416A>C (n.61-6416A>C)
c.442-6416A>C (n.442-6416A>C)
dbSNP gnomAD v4
2g.233760618A>GCA351066438UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6416A>G (n.856-6416A>G)
c.868-6416A>G (n.868-6416A>G)
c.862-6416A>G (n.862-6416A>G)
c.331A>G (p.Lys111Glu)
c.61-6416A>G (n.61-6416A>G)
c.442-6416A>G (n.442-6416A>G)
2g.233760618A>TCA351066439UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6416A>T (n.856-6416A>T)
c.868-6416A>T (n.868-6416A>T)
c.862-6416A>T (n.862-6416A>T)
c.331A>T (p.Lys111Ter)
c.61-6416A>T (n.61-6416A>T)
c.442-6416A>T (n.442-6416A>T)
2g.233760619A>CCA351066440UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6415A>C (n.856-6415A>C)
c.868-6415A>C (n.868-6415A>C)
c.862-6415A>C (n.862-6415A>C)
c.332A>C (p.Lys111Thr)
c.61-6415A>C (n.61-6415A>C)
c.442-6415A>C (n.442-6415A>C)
2g.233760619A>GCA351066441UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6415A>G (n.856-6415A>G)
c.868-6415A>G (n.868-6415A>G)
c.862-6415A>G (n.862-6415A>G)
c.332A>G (p.Lys111Arg)
c.61-6415A>G (n.61-6415A>G)
c.442-6415A>G (n.442-6415A>G)
gnomAD v4
2g.233760619A>TCA351066442UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6415A>T (n.856-6415A>T)
c.868-6415A>T (n.868-6415A>T)
c.862-6415A>T (n.862-6415A>T)
c.332A>T (p.Lys111Ile)
c.61-6415A>T (n.61-6415A>T)
c.442-6415A>T (n.442-6415A>T)

Number of alleles fetched