Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760861T>ACA351067185UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6173T>A (n.856-6173T>A)
c.868-6173T>A (n.868-6173T>A)
c.862-6173T>A (n.862-6173T>A)
c.574T>A (p.Tyr192Asn)
c.61-6173T>A (n.61-6173T>A)
c.442-6173T>A (n.442-6173T>A)
gnomAD v4
2g.233760861T>CCA2179844UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6173T>C (n.856-6173T>C)
c.868-6173T>C (n.868-6173T>C)
c.862-6173T>C (n.862-6173T>C)
c.574T>C (p.Tyr192His)
c.61-6173T>C (n.61-6173T>C)
c.442-6173T>C (n.442-6173T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760861T>GCA351067187UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6173T>G (n.856-6173T>G)
c.868-6173T>G (n.868-6173T>G)
c.862-6173T>G (n.862-6173T>G)
c.574T>G (p.Tyr192Asp)
c.61-6173T>G (n.61-6173T>G)
c.442-6173T>G (n.442-6173T>G)
2g.233760861T=CA1335889560UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6173T= (n.856-6173T=)
c.868-6173T= (n.868-6173T=)
c.862-6173T= (n.862-6173T=)
c.574T= (p.Tyr192=)
c.61-6173T= (n.61-6173T=)
c.442-6173T= (n.442-6173T=)
2g.233760862A=CA1335889564UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6172A= (n.856-6172A=)
c.868-6172A= (n.868-6172A=)
c.862-6172A= (n.862-6172A=)
c.575A= (p.Tyr192=)
c.61-6172A= (n.61-6172A=)
c.442-6172A= (n.442-6172A=)
2g.233760862A>CCA351067189UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6172A>C (n.856-6172A>C)
c.868-6172A>C (n.868-6172A>C)
c.862-6172A>C (n.862-6172A>C)
c.575A>C (p.Tyr192Ser)
c.61-6172A>C (n.61-6172A>C)
c.442-6172A>C (n.442-6172A>C)
2g.233760862A>GCA2179845UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6172A>G (n.856-6172A>G)
c.868-6172A>G (n.868-6172A>G)
c.862-6172A>G (n.862-6172A>G)
c.575A>G (p.Tyr192Cys)
c.61-6172A>G (n.61-6172A>G)
c.442-6172A>G (n.442-6172A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760862A>TCA351067191UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6172A>T (n.856-6172A>T)
c.868-6172A>T (n.868-6172A>T)
c.862-6172A>T (n.862-6172A>T)
c.575A>T (p.Tyr192Phe)
c.61-6172A>T (n.61-6172A>T)
c.442-6172A>T (n.442-6172A>T)
2g.233760863C>ACA351067194UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6171C>A (n.856-6171C>A)
c.868-6171C>A (n.868-6171C>A)
c.862-6171C>A (n.862-6171C>A)
c.576C>A (p.Tyr192Ter)
c.61-6171C>A (n.61-6171C>A)
c.442-6171C>A (n.442-6171C>A)
gnomAD v4
2g.233760863C=CA1335889569UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6171C= (n.856-6171C=)
c.868-6171C= (n.868-6171C=)
c.862-6171C= (n.862-6171C=)
c.576C= (p.Tyr192=)
c.61-6171C= (n.61-6171C=)
c.442-6171C= (n.442-6171C=)
2g.233760863C>GCA351067200UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6171C>G (n.856-6171C>G)
c.868-6171C>G (n.868-6171C>G)
c.862-6171C>G (n.862-6171C>G)
c.576C>G (p.Tyr192Ter)
c.61-6171C>G (n.61-6171C>G)
c.442-6171C>G (n.442-6171C>G)
2g.233760863C>TCA2179846UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6171C>T (n.856-6171C>T)
c.868-6171C>T (n.868-6171C>T)
c.862-6171C>T (n.862-6171C>T)
c.576C>T (p.Tyr192=)
c.61-6171C>T (n.61-6171C>T)
c.442-6171C>T (n.442-6171C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760864G>ACA2179847UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6170G>A (n.856-6170G>A)
c.868-6170G>A (n.868-6170G>A)
c.862-6170G>A (n.862-6170G>A)
c.577G>A (p.Val193Met)
c.61-6170G>A (n.61-6170G>A)
c.442-6170G>A (n.442-6170G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760864G>CCA351067204UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6170G>C (n.856-6170G>C)
c.868-6170G>C (n.868-6170G>C)
c.862-6170G>C (n.862-6170G>C)
c.577G>C (p.Val193Leu)
c.61-6170G>C (n.61-6170G>C)
c.442-6170G>C (n.442-6170G>C)
gnomAD v4
2g.233760864G=CA1335889573UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6170G= (n.856-6170G=)
c.868-6170G= (n.868-6170G=)
c.862-6170G= (n.862-6170G=)
c.577G= (p.Val193=)
c.61-6170G= (n.61-6170G=)
c.442-6170G= (n.442-6170G=)
2g.233760864G>TCA351067208UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6170G>T (n.856-6170G>T)
c.868-6170G>T (n.868-6170G>T)
c.862-6170G>T (n.862-6170G>T)
c.577G>T (p.Val193Leu)
c.61-6170G>T (n.61-6170G>T)
c.442-6170G>T (n.442-6170G>T)
COSMIC
2g.233760865T>ACA351067216UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6169T>A (n.856-6169T>A)
c.868-6169T>A (n.868-6169T>A)
c.862-6169T>A (n.862-6169T>A)
c.578T>A (p.Val193Glu)
c.61-6169T>A (n.61-6169T>A)
c.442-6169T>A (n.442-6169T>A)
ClinVar dbSNP
2g.233760865T>CCA351067213UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6169T>C (n.856-6169T>C)
c.868-6169T>C (n.868-6169T>C)
c.862-6169T>C (n.862-6169T>C)
c.578T>C (p.Val193Ala)
c.61-6169T>C (n.61-6169T>C)
c.442-6169T>C (n.442-6169T>C)
2g.233760865T>GCA351067212UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6169T>G (n.856-6169T>G)
c.868-6169T>G (n.868-6169T>G)
c.862-6169T>G (n.862-6169T>G)
c.578T>G (p.Val193Gly)
c.61-6169T>G (n.61-6169T>G)
c.442-6169T>G (n.442-6169T>G)
2g.233760866G>ACA431960621UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6168G>A (n.856-6168G>A)
c.868-6168G>A (n.868-6168G>A)
c.862-6168G>A (n.862-6168G>A)
c.579G>A (p.Val193=)
c.61-6168G>A (n.61-6168G>A)
c.442-6168G>A (n.442-6168G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760866G>CCA431960622UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6168G>C (n.856-6168G>C)
c.868-6168G>C (n.868-6168G>C)
c.862-6168G>C (n.862-6168G>C)
c.579G>C (p.Val193=)
c.61-6168G>C (n.61-6168G>C)
c.442-6168G>C (n.442-6168G>C)
2g.233760866G=CA1335889579UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6168G= (n.856-6168G=)
c.868-6168G= (n.868-6168G=)
c.862-6168G= (n.862-6168G=)
c.579G= (p.Val193=)
c.61-6168G= (n.61-6168G=)
c.442-6168G= (n.442-6168G=)
2g.233760866G>TCA431960620UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6168G>T (n.856-6168G>T)
c.868-6168G>T (n.868-6168G>T)
c.862-6168G>T (n.862-6168G>T)
c.579G>T (p.Val193=)
c.61-6168G>T (n.61-6168G>T)
c.442-6168G>T (n.442-6168G>T)
2g.233760867C>ACA351067220UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6167C>A (n.856-6167C>A)
c.868-6167C>A (n.868-6167C>A)
c.862-6167C>A (n.862-6167C>A)
c.580C>A (p.Pro194Thr)
c.61-6167C>A (n.61-6167C>A)
c.442-6167C>A (n.442-6167C>A)
2g.233760867C=CA1335889585UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6167C= (n.856-6167C=)
c.868-6167C= (n.868-6167C=)
c.862-6167C= (n.862-6167C=)
c.580C= (p.Pro194=)
c.61-6167C= (n.61-6167C=)
c.442-6167C= (n.442-6167C=)
2g.233760867C>GCA351067222UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6167C>G (n.856-6167C>G)
c.868-6167C>G (n.868-6167C>G)
c.862-6167C>G (n.862-6167C>G)
c.580C>G (p.Pro194Ala)
c.61-6167C>G (n.61-6167C>G)
c.442-6167C>G (n.442-6167C>G)
dbSNP
2g.233760867C>TCA67590181UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6167C>T (n.856-6167C>T)
c.868-6167C>T (n.868-6167C>T)
c.862-6167C>T (n.862-6167C>T)
c.580C>T (p.Pro194Ser)
c.61-6167C>T (n.61-6167C>T)
c.442-6167C>T (n.442-6167C>T)
dbSNP gnomAD v4
2g.233760869delCA2586965609UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6165del (n.856-6165del)
c.868-6165del (n.868-6165del)
c.862-6165del (n.862-6165del)
c.582del (p.Arg195GlyfsTer10)
c.61-6165del (n.61-6165del)
c.442-6165del (n.442-6165del)
2g.233760868C>ACA351067230UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6166C>A (n.856-6166C>A)
c.868-6166C>A (n.868-6166C>A)
c.862-6166C>A (n.862-6166C>A)
c.581C>A (p.Pro194His)
c.61-6166C>A (n.61-6166C>A)
c.442-6166C>A (n.442-6166C>A)
2g.233760868C=CA1335889589UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6166C= (n.856-6166C=)
c.868-6166C= (n.868-6166C=)
c.862-6166C= (n.862-6166C=)
c.581C= (p.Pro194=)
c.61-6166C= (n.61-6166C=)
c.442-6166C= (n.442-6166C=)
2g.233760868C>GCA351067233UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6166C>G (n.856-6166C>G)
c.868-6166C>G (n.868-6166C>G)
c.862-6166C>G (n.862-6166C>G)
c.581C>G (p.Pro194Arg)
c.61-6166C>G (n.61-6166C>G)
c.442-6166C>G (n.442-6166C>G)
2g.233760868C>TCA351067235UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6166C>T (n.856-6166C>T)
c.868-6166C>T (n.868-6166C>T)
c.862-6166C>T (n.862-6166C>T)
c.581C>T (p.Pro194Leu)
c.61-6166C>T (n.61-6166C>T)
c.442-6166C>T (n.442-6166C>T)
dbSNP gnomAD v4
2g.233760869C>ACA431960629UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6165C>A (n.856-6165C>A)
c.868-6165C>A (n.868-6165C>A)
c.862-6165C>A (n.862-6165C>A)
c.582C>A (p.Pro194=)
c.61-6165C>A (n.61-6165C>A)
c.442-6165C>A (n.442-6165C>A)
2g.233760869C>GCA431960630UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6165C>G (n.856-6165C>G)
c.868-6165C>G (n.868-6165C>G)
c.862-6165C>G (n.862-6165C>G)
c.582C>G (p.Pro194=)
c.61-6165C>G (n.61-6165C>G)
c.442-6165C>G (n.442-6165C>G)
2g.233760869C>TCA431960631UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6165C>T (n.856-6165C>T)
c.868-6165C>T (n.868-6165C>T)
c.862-6165C>T (n.862-6165C>T)
c.582C>T (p.Pro194=)
c.61-6165C>T (n.61-6165C>T)
c.442-6165C>T (n.442-6165C>T)
2g.233760870A=CA1335889591UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6164A= (n.856-6164A=)
c.868-6164A= (n.868-6164A=)
c.862-6164A= (n.862-6164A=)
c.583A= (p.Arg195=)
c.61-6164A= (n.61-6164A=)
c.442-6164A= (n.442-6164A=)
2g.233760870A>CCA431960632UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6164A>C (n.856-6164A>C)
c.868-6164A>C (n.868-6164A>C)
c.862-6164A>C (n.862-6164A>C)
c.583A>C (p.Arg195=)
c.61-6164A>C (n.61-6164A>C)
c.442-6164A>C (n.442-6164A>C)
2g.233760870A>GCA2179848UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6164A>G (n.856-6164A>G)
c.868-6164A>G (n.868-6164A>G)
c.862-6164A>G (n.862-6164A>G)
c.583A>G (p.Arg195Gly)
c.61-6164A>G (n.61-6164A>G)
c.442-6164A>G (n.442-6164A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760870A>TCA351067247UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6164A>T (n.856-6164A>T)
c.868-6164A>T (n.868-6164A>T)
c.862-6164A>T (n.862-6164A>T)
c.583A>T (p.Arg195Trp)
c.61-6164A>T (n.61-6164A>T)
c.442-6164A>T (n.442-6164A>T)
2g.233760871G>ACA2179849UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6163G>A (n.856-6163G>A)
c.868-6163G>A (n.868-6163G>A)
c.862-6163G>A (n.862-6163G>A)
c.584G>A (p.Arg195Lys)
c.61-6163G>A (n.61-6163G>A)
c.442-6163G>A (n.442-6163G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760871G>CCA351067250UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6163G>C (n.856-6163G>C)
c.868-6163G>C (n.868-6163G>C)
c.862-6163G>C (n.862-6163G>C)
c.584G>C (p.Arg195Thr)
c.61-6163G>C (n.61-6163G>C)
c.442-6163G>C (n.442-6163G>C)
2g.233760871G=CA1335889594UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6163G= (n.856-6163G=)
c.868-6163G= (n.868-6163G=)
c.862-6163G= (n.862-6163G=)
c.584G= (p.Arg195=)
c.61-6163G= (n.61-6163G=)
c.442-6163G= (n.442-6163G=)
2g.233760871G>TCA351067253UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6163G>T (n.856-6163G>T)
c.868-6163G>T (n.868-6163G>T)
c.862-6163G>T (n.862-6163G>T)
c.584G>T (p.Arg195Met)
c.61-6163G>T (n.61-6163G>T)
c.442-6163G>T (n.442-6163G>T)
2g.233760872G>ACA431960635UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6162G>A (n.856-6162G>A)
c.868-6162G>A (n.868-6162G>A)
c.862-6162G>A (n.862-6162G>A)
c.585G>A (p.Arg195=)
c.61-6162G>A (n.61-6162G>A)
c.442-6162G>A (n.442-6162G>A)
gnomAD v4 COSMIC COSMIC
2g.233760872G>CCA351067259UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6162G>C (n.856-6162G>C)
c.868-6162G>C (n.868-6162G>C)
c.862-6162G>C (n.862-6162G>C)
c.585G>C (p.Arg195Ser)
c.61-6162G>C (n.61-6162G>C)
c.442-6162G>C (n.442-6162G>C)
gnomAD v4
2g.233760872G>TCA351067268UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6162G>T (n.856-6162G>T)
c.868-6162G>T (n.868-6162G>T)
c.862-6162G>T (n.862-6162G>T)
c.585G>T (p.Arg195Ser)
c.61-6162G>T (n.61-6162G>T)
c.442-6162G>T (n.442-6162G>T)
2g.233760873C>ACA351067271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6161C>A (n.856-6161C>A)
c.868-6161C>A (n.868-6161C>A)
c.862-6161C>A (n.862-6161C>A)
c.586C>A (p.Pro196Thr)
c.61-6161C>A (n.61-6161C>A)
c.442-6161C>A (n.442-6161C>A)
2g.233760873C>GCA351067269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6161C>G (n.856-6161C>G)
c.868-6161C>G (n.868-6161C>G)
c.862-6161C>G (n.862-6161C>G)
c.586C>G (p.Pro196Ala)
c.61-6161C>G (n.61-6161C>G)
c.442-6161C>G (n.442-6161C>G)
gnomAD v4
2g.233760873C>TCA351067270UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6161C>T (n.856-6161C>T)
c.868-6161C>T (n.868-6161C>T)
c.862-6161C>T (n.862-6161C>T)
c.586C>T (p.Pro196Ser)
c.61-6161C>T (n.61-6161C>T)
c.442-6161C>T (n.442-6161C>T)
2g.233760874dupCA2754693303UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6160dup (n.856-6160dup)
c.868-6160dup (n.868-6160dup)
c.862-6160dup (n.862-6160dup)
c.587dup (p.Leu197SerfsTer?)
c.61-6160dup (n.61-6160dup)
c.442-6160dup (n.442-6160dup)
2g.233760874C>ACA351067274UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6160C>A (n.856-6160C>A)
c.868-6160C>A (n.868-6160C>A)
c.862-6160C>A (n.862-6160C>A)
c.587C>A (p.Pro196His)
c.61-6160C>A (n.61-6160C>A)
c.442-6160C>A (n.442-6160C>A)
2g.233760874C>GCA351067275UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6160C>G (n.856-6160C>G)
c.868-6160C>G (n.868-6160C>G)
c.862-6160C>G (n.862-6160C>G)
c.587C>G (p.Pro196Arg)
c.61-6160C>G (n.61-6160C>G)
c.442-6160C>G (n.442-6160C>G)
2g.233760874C>TCA351067280UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6160C>T (n.856-6160C>T)
c.868-6160C>T (n.868-6160C>T)
c.862-6160C>T (n.862-6160C>T)
c.587C>T (p.Pro196Leu)
c.61-6160C>T (n.61-6160C>T)
c.442-6160C>T (n.442-6160C>T)
gnomAD v4
2g.233760875T>ACA431960641UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6159T>A (n.856-6159T>A)
c.868-6159T>A (n.868-6159T>A)
c.862-6159T>A (n.862-6159T>A)
c.588T>A (p.Pro196=)
c.61-6159T>A (n.61-6159T>A)
c.442-6159T>A (n.442-6159T>A)
2g.233760875T>CCA431960642UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6159T>C (n.856-6159T>C)
c.868-6159T>C (n.868-6159T>C)
c.862-6159T>C (n.862-6159T>C)
c.588T>C (p.Pro196=)
c.61-6159T>C (n.61-6159T>C)
c.442-6159T>C (n.442-6159T>C)
2g.233760875T>GCA431960644UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6159T>G (n.856-6159T>G)
c.868-6159T>G (n.868-6159T>G)
c.862-6159T>G (n.862-6159T>G)
c.588T>G (p.Pro196=)
c.61-6159T>G (n.61-6159T>G)
c.442-6159T>G (n.442-6159T>G)
2g.233760876C>ACA351067283UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6158C>A (n.856-6158C>A)
c.868-6158C>A (n.868-6158C>A)
c.862-6158C>A (n.862-6158C>A)
c.589C>A (p.Leu197Ile)
c.61-6158C>A (n.61-6158C>A)
c.442-6158C>A (n.442-6158C>A)
2g.233760876C>GCA351067285UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6158C>G (n.856-6158C>G)
c.868-6158C>G (n.868-6158C>G)
c.862-6158C>G (n.862-6158C>G)
c.589C>G (p.Leu197Val)
c.61-6158C>G (n.61-6158C>G)
c.442-6158C>G (n.442-6158C>G)
2g.233760876C>TCA351067286UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6158C>T (n.856-6158C>T)
c.868-6158C>T (n.868-6158C>T)
c.862-6158C>T (n.862-6158C>T)
c.589C>T (p.Leu197Phe)
c.61-6158C>T (n.61-6158C>T)
c.442-6158C>T (n.442-6158C>T)
2g.233760877T>ACA351067293UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6157T>A (n.856-6157T>A)
c.868-6157T>A (n.868-6157T>A)
c.862-6157T>A (n.862-6157T>A)
c.590T>A (p.Leu197His)
c.61-6157T>A (n.61-6157T>A)
c.442-6157T>A (n.442-6157T>A)
2g.233760877T>CCA351067294UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6157T>C (n.856-6157T>C)
c.868-6157T>C (n.868-6157T>C)
c.862-6157T>C (n.862-6157T>C)
c.590T>C (p.Leu197Pro)
c.61-6157T>C (n.61-6157T>C)
c.442-6157T>C (n.442-6157T>C)
gnomAD v4
2g.233760877T>GCA351067295UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6157T>G (n.856-6157T>G)
c.868-6157T>G (n.868-6157T>G)
c.862-6157T>G (n.862-6157T>G)
c.590T>G (p.Leu197Arg)
c.61-6157T>G (n.61-6157T>G)
c.442-6157T>G (n.442-6157T>G)
2g.233760878C>ACA431960649UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6156C>A (n.856-6156C>A)
c.868-6156C>A (n.868-6156C>A)
c.862-6156C>A (n.862-6156C>A)
c.591C>A (p.Leu197=)
c.61-6156C>A (n.61-6156C>A)
c.442-6156C>A (n.442-6156C>A)
dbSNP
2g.233760878C=CA1335889601UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6156C= (n.856-6156C=)
c.868-6156C= (n.868-6156C=)
c.862-6156C= (n.862-6156C=)
c.591C= (p.Leu197=)
c.61-6156C= (n.61-6156C=)
c.442-6156C= (n.442-6156C=)
2g.233760878C>GCA431960650UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6156C>G (n.856-6156C>G)
c.868-6156C>G (n.868-6156C>G)
c.862-6156C>G (n.862-6156C>G)
c.591C>G (p.Leu197=)
c.61-6156C>G (n.61-6156C>G)
c.442-6156C>G (n.442-6156C>G)
2g.233760878C>TCA431960647UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6156C>T (n.856-6156C>T)
c.868-6156C>T (n.868-6156C>T)
c.862-6156C>T (n.862-6156C>T)
c.591C>T (p.Leu197=)
c.61-6156C>T (n.61-6156C>T)
c.442-6156C>T (n.442-6156C>T)
dbSNP gnomAD v3 gnomAD v4
2g.233760879T>ACA351067296UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6155T>A (n.856-6155T>A)
c.868-6155T>A (n.868-6155T>A)
c.862-6155T>A (n.862-6155T>A)
c.592T>A (p.Ser198Thr)
c.61-6155T>A (n.61-6155T>A)
c.442-6155T>A (n.442-6155T>A)
2g.233760879T>CCA351067297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6155T>C (n.856-6155T>C)
c.868-6155T>C (n.868-6155T>C)
c.862-6155T>C (n.862-6155T>C)
c.592T>C (p.Ser198Pro)
c.61-6155T>C (n.61-6155T>C)
c.442-6155T>C (n.442-6155T>C)
ClinVar dbSNP
2g.233760879T>GCA351067299UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6155T>G (n.856-6155T>G)
c.868-6155T>G (n.868-6155T>G)
c.862-6155T>G (n.862-6155T>G)
c.592T>G (p.Ser198Ala)
c.61-6155T>G (n.61-6155T>G)
c.442-6155T>G (n.442-6155T>G)
2g.233760879T=CA1335889609UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6155T= (n.856-6155T=)
c.868-6155T= (n.868-6155T=)
c.862-6155T= (n.862-6155T=)
c.592T= (p.Ser198=)
c.61-6155T= (n.61-6155T=)
c.442-6155T= (n.442-6155T=)
2g.233760880C>ACA351067304UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6154C>A (n.856-6154C>A)
c.868-6154C>A (n.868-6154C>A)
c.862-6154C>A (n.862-6154C>A)
c.593C>A (p.Ser198Tyr)
c.61-6154C>A (n.61-6154C>A)
c.442-6154C>A (n.442-6154C>A)
2g.233760880C>GCA351067307UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6154C>G (n.856-6154C>G)
c.868-6154C>G (n.868-6154C>G)
c.862-6154C>G (n.862-6154C>G)
c.593C>G (p.Ser198Cys)
c.61-6154C>G (n.61-6154C>G)
c.442-6154C>G (n.442-6154C>G)
2g.233760880C>TCA351067302UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6154C>T (n.856-6154C>T)
c.868-6154C>T (n.868-6154C>T)
c.862-6154C>T (n.862-6154C>T)
c.593C>T (p.Ser198Phe)
c.61-6154C>T (n.61-6154C>T)
c.442-6154C>T (n.442-6154C>T)
gnomAD v4
2g.233760881C>ACA431960651UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6153C>A (n.856-6153C>A)
c.868-6153C>A (n.868-6153C>A)
c.862-6153C>A (n.862-6153C>A)
c.594C>A (p.Ser198=)
c.61-6153C>A (n.61-6153C>A)
c.442-6153C>A (n.442-6153C>A)
2g.233760881C=CA1335889616UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6153C= (n.856-6153C=)
c.868-6153C= (n.868-6153C=)
c.862-6153C= (n.862-6153C=)
c.594C= (p.Ser198=)
c.61-6153C= (n.61-6153C=)
c.442-6153C= (n.442-6153C=)
2g.233760881C>GCA431960652UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6153C>G (n.856-6153C>G)
c.868-6153C>G (n.868-6153C>G)
c.862-6153C>G (n.862-6153C>G)
c.594C>G (p.Ser198=)
c.61-6153C>G (n.61-6153C>G)
c.442-6153C>G (n.442-6153C>G)
2g.233760881C>TCA67590199UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6153C>T (n.856-6153C>T)
c.868-6153C>T (n.868-6153C>T)
c.862-6153C>T (n.862-6153C>T)
c.594C>T (p.Ser198=)
c.61-6153C>T (n.61-6153C>T)
c.442-6153C>T (n.442-6153C>T)
dbSNP gnomAD v4
2g.233760882T>ACA351067315UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6152T>A (n.856-6152T>A)
c.868-6152T>A (n.868-6152T>A)
c.862-6152T>A (n.862-6152T>A)
c.595T>A (p.Ser199Thr)
c.61-6152T>A (n.61-6152T>A)
c.442-6152T>A (n.442-6152T>A)
2g.233760882T>CCA351067317UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6152T>C (n.856-6152T>C)
c.868-6152T>C (n.868-6152T>C)
c.862-6152T>C (n.862-6152T>C)
c.595T>C (p.Ser199Pro)
c.61-6152T>C (n.61-6152T>C)
c.442-6152T>C (n.442-6152T>C)
2g.233760882T>GCA351067319UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6152T>G (n.856-6152T>G)
c.868-6152T>G (n.868-6152T>G)
c.862-6152T>G (n.862-6152T>G)
c.595T>G (p.Ser199Ala)
c.61-6152T>G (n.61-6152T>G)
c.442-6152T>G (n.442-6152T>G)
2g.233760883C>ACA351067321UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6151C>A (n.856-6151C>A)
c.868-6151C>A (n.868-6151C>A)
c.862-6151C>A (n.862-6151C>A)
c.596C>A (p.Ser199Tyr)
c.61-6151C>A (n.61-6151C>A)
c.442-6151C>A (n.442-6151C>A)
2g.233760883C=CA1335889622UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6151C= (n.856-6151C=)
c.868-6151C= (n.868-6151C=)
c.862-6151C= (n.862-6151C=)
c.596C= (p.Ser199=)
c.61-6151C= (n.61-6151C=)
c.442-6151C= (n.442-6151C=)
2g.233760883C>GCA351067323UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6151C>G (n.856-6151C>G)
c.868-6151C>G (n.868-6151C>G)
c.862-6151C>G (n.862-6151C>G)
c.596C>G (p.Ser199Cys)
c.61-6151C>G (n.61-6151C>G)
c.442-6151C>G (n.442-6151C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233760883C>TCA2179850UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6151C>T (n.856-6151C>T)
c.868-6151C>T (n.868-6151C>T)
c.862-6151C>T (n.862-6151C>T)
c.596C>T (p.Ser199Phe)
c.61-6151C>T (n.61-6151C>T)
c.442-6151C>T (n.442-6151C>T)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.233760884T>ACA431960659UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6150T>A (n.856-6150T>A)
c.868-6150T>A (n.868-6150T>A)
c.862-6150T>A (n.862-6150T>A)
c.597T>A (p.Ser199=)
c.61-6150T>A (n.61-6150T>A)
c.442-6150T>A (n.442-6150T>A)
gnomAD v4
2g.233760884T>CCA431960658UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6150T>C (n.856-6150T>C)
c.868-6150T>C (n.868-6150T>C)
c.862-6150T>C (n.862-6150T>C)
c.597T>C (p.Ser199=)
c.61-6150T>C (n.61-6150T>C)
c.442-6150T>C (n.442-6150T>C)
2g.233760884T>GCA431960661UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6150T>G (n.856-6150T>G)
c.868-6150T>G (n.868-6150T>G)
c.862-6150T>G (n.862-6150T>G)
c.597T>G (p.Ser199=)
c.61-6150T>G (n.61-6150T>G)
c.442-6150T>G (n.442-6150T>G)
2g.233760885C>ACA351067325UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6149C>A (n.856-6149C>A)
c.868-6149C>A (n.868-6149C>A)
c.862-6149C>A (n.862-6149C>A)
c.598C>A (p.His200Asn)
c.61-6149C>A (n.61-6149C>A)
c.442-6149C>A (n.442-6149C>A)
2g.233760885C>GCA351067326UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6149C>G (n.856-6149C>G)
c.868-6149C>G (n.868-6149C>G)
c.862-6149C>G (n.862-6149C>G)
c.598C>G (p.His200Asp)
c.61-6149C>G (n.61-6149C>G)
c.442-6149C>G (n.442-6149C>G)
2g.233760885C>TCA351067327UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6149C>T (n.856-6149C>T)
c.868-6149C>T (n.868-6149C>T)
c.862-6149C>T (n.862-6149C>T)
c.598C>T (p.His200Tyr)
c.61-6149C>T (n.61-6149C>T)
c.442-6149C>T (n.442-6149C>T)
dbSNP
2g.233760886A=CA1335889629UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148A= (n.856-6148A=)
c.868-6148A= (n.868-6148A=)
c.862-6148A= (n.862-6148A=)
c.599A= (p.His200=)
c.61-6148A= (n.61-6148A=)
c.442-6148A= (n.442-6148A=)
2g.233760886A>CCA2179851UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148A>C (n.856-6148A>C)
c.868-6148A>C (n.868-6148A>C)
c.862-6148A>C (n.862-6148A>C)
c.599A>C (p.His200Pro)
c.61-6148A>C (n.61-6148A>C)
c.442-6148A>C (n.442-6148A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760886A>GCA351067329UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148A>G (n.856-6148A>G)
c.868-6148A>G (n.868-6148A>G)
c.862-6148A>G (n.862-6148A>G)
c.599A>G (p.His200Arg)
c.61-6148A>G (n.61-6148A>G)
c.442-6148A>G (n.442-6148A>G)
2g.233760886A>TCA351067330UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148A>T (n.856-6148A>T)
c.868-6148A>T (n.868-6148A>T)
c.862-6148A>T (n.862-6148A>T)
c.599A>T (p.His200Leu)
c.61-6148A>T (n.61-6148A>T)
c.442-6148A>T (n.442-6148A>T)
2g.233760886_233760887delinsATCA1335889627UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6148_856-6147delinsAT (n.856-6148_856-6147delinsAT)
c.868-6148_868-6147delinsAT (n.868-6148_868-6147delinsAT)
c.862-6148_862-6147delinsAT (n.862-6148_862-6147delinsAT)
c.599_600delinsAT (p.His200=)
c.61-6148_61-6147delinsAT (n.61-6148_61-6147delinsAT)
c.442-6148_442-6147delinsAT (n.442-6148_442-6147delinsAT)
2g.233760887T>ACA351067332UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6147T>A (n.856-6147T>A)
c.868-6147T>A (n.868-6147T>A)
c.862-6147T>A (n.862-6147T>A)
c.600T>A (p.His200Gln)
c.61-6147T>A (n.61-6147T>A)
c.442-6147T>A (n.442-6147T>A)
2g.233760887T>CCA431960669UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6147T>C (n.856-6147T>C)
c.868-6147T>C (n.868-6147T>C)
c.862-6147T>C (n.862-6147T>C)
c.600T>C (p.His200=)
c.61-6147T>C (n.61-6147T>C)
c.442-6147T>C (n.442-6147T>C)
2g.233760887T>GCA351067331UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6147T>G (n.856-6147T>G)
c.868-6147T>G (n.868-6147T>G)
c.862-6147T>G (n.862-6147T>G)
c.600T>G (p.His200Gln)
c.61-6147T>G (n.61-6147T>G)
c.442-6147T>G (n.442-6147T>G)
2g.233760888delCA2179852UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6146del (n.856-6146del)
c.868-6146del (n.868-6146del)
c.862-6146del (n.862-6146del)
c.601del (p.Ser201GlnfsTer4)
c.61-6146del (n.61-6146del)
c.442-6146del (n.442-6146del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760888T>ACA351067335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6146T>A (n.856-6146T>A)
c.868-6146T>A (n.868-6146T>A)
c.862-6146T>A (n.862-6146T>A)
c.601T>A (p.Ser201Thr)
c.61-6146T>A (n.61-6146T>A)
c.442-6146T>A (n.442-6146T>A)
2g.233760888T>CCA351067336UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6146T>C (n.856-6146T>C)
c.868-6146T>C (n.868-6146T>C)
c.862-6146T>C (n.862-6146T>C)
c.601T>C (p.Ser201Pro)
c.61-6146T>C (n.61-6146T>C)
c.442-6146T>C (n.442-6146T>C)
2g.233760888T>GCA351067338UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6146T>G (n.856-6146T>G)
c.868-6146T>G (n.868-6146T>G)
c.862-6146T>G (n.862-6146T>G)
c.601T>G (p.Ser201Ala)
c.61-6146T>G (n.61-6146T>G)
c.442-6146T>G (n.442-6146T>G)
2g.233760889C>ACA351067340UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6145C>A (n.856-6145C>A)
c.868-6145C>A (n.868-6145C>A)
c.862-6145C>A (n.862-6145C>A)
c.602C>A (p.Ser201Ter)
c.61-6145C>A (n.61-6145C>A)
c.442-6145C>A (n.442-6145C>A)
2g.233760889C>GCA351067342UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6145C>G (n.856-6145C>G)
c.868-6145C>G (n.868-6145C>G)
c.862-6145C>G (n.862-6145C>G)
c.602C>G (p.Ser201Ter)
c.61-6145C>G (n.61-6145C>G)
c.442-6145C>G (n.442-6145C>G)
2g.233760889C>TCA351067343UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6145C>T (n.856-6145C>T)
c.868-6145C>T (n.868-6145C>T)
c.862-6145C>T (n.862-6145C>T)
c.602C>T (p.Ser201Leu)
c.61-6145C>T (n.61-6145C>T)
c.442-6145C>T (n.442-6145C>T)
2g.233760890A=CA1335889636UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6144A= (n.856-6144A=)
c.868-6144A= (n.868-6144A=)
c.862-6144A= (n.862-6144A=)
c.603A= (p.Ser201=)
c.61-6144A= (n.61-6144A=)
c.442-6144A= (n.442-6144A=)
2g.233760890A>CCA431960675UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6144A>C (n.856-6144A>C)
c.868-6144A>C (n.868-6144A>C)
c.862-6144A>C (n.862-6144A>C)
c.603A>C (p.Ser201=)
c.61-6144A>C (n.61-6144A>C)
c.442-6144A>C (n.442-6144A>C)
2g.233760890A>GCA2179853UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6144A>G (n.856-6144A>G)
c.868-6144A>G (n.868-6144A>G)
c.862-6144A>G (n.862-6144A>G)
c.603A>G (p.Ser201=)
c.61-6144A>G (n.61-6144A>G)
c.442-6144A>G (n.442-6144A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760890A>TCA431960676UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6144A>T (n.856-6144A>T)
c.868-6144A>T (n.868-6144A>T)
c.862-6144A>T (n.862-6144A>T)
c.603A>T (p.Ser201=)
c.61-6144A>T (n.61-6144A>T)
c.442-6144A>T (n.442-6144A>T)
2g.233760891G>ACA351067346UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6143G>A (n.856-6143G>A)
c.868-6143G>A (n.868-6143G>A)
c.862-6143G>A (n.862-6143G>A)
c.604G>A (p.Asp202Asn)
c.61-6143G>A (n.61-6143G>A)
c.442-6143G>A (n.442-6143G>A)
2g.233760891G>CCA351067348UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6143G>C (n.856-6143G>C)
c.868-6143G>C (n.868-6143G>C)
c.862-6143G>C (n.862-6143G>C)
c.604G>C (p.Asp202His)
c.61-6143G>C (n.61-6143G>C)
c.442-6143G>C (n.442-6143G>C)
dbSNP
2g.233760891G=CA1335889640UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6143G= (n.856-6143G=)
c.868-6143G= (n.868-6143G=)
c.862-6143G= (n.862-6143G=)
c.604G= (p.Asp202=)
c.61-6143G= (n.61-6143G=)
c.442-6143G= (n.442-6143G=)
2g.233760891G>TCA351067349UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6143G>T (n.856-6143G>T)
c.868-6143G>T (n.868-6143G>T)
c.862-6143G>T (n.862-6143G>T)
c.604G>T (p.Asp202Tyr)
c.61-6143G>T (n.61-6143G>T)
c.442-6143G>T (n.442-6143G>T)
2g.233760892A>CCA351067351UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6142A>C (n.856-6142A>C)
c.868-6142A>C (n.868-6142A>C)
c.862-6142A>C (n.862-6142A>C)
c.605A>C (p.Asp202Ala)
c.61-6142A>C (n.61-6142A>C)
c.442-6142A>C (n.442-6142A>C)
2g.233760892A>GCA351067353UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6142A>G (n.856-6142A>G)
c.868-6142A>G (n.868-6142A>G)
c.862-6142A>G (n.862-6142A>G)
c.605A>G (p.Asp202Gly)
c.61-6142A>G (n.61-6142A>G)
c.442-6142A>G (n.442-6142A>G)
2g.233760892A>TCA351067355UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6142A>T (n.856-6142A>T)
c.868-6142A>T (n.868-6142A>T)
c.862-6142A>T (n.862-6142A>T)
c.605A>T (p.Asp202Val)
c.61-6142A>T (n.61-6142A>T)
c.442-6142A>T (n.442-6142A>T)
2g.233760893T>ACA351067358UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6141T>A (n.856-6141T>A)
c.868-6141T>A (n.868-6141T>A)
c.862-6141T>A (n.862-6141T>A)
c.606T>A (p.Asp202Glu)
c.61-6141T>A (n.61-6141T>A)
c.442-6141T>A (n.442-6141T>A)
2g.233760893T>CCA431960683UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6141T>C (n.856-6141T>C)
c.868-6141T>C (n.868-6141T>C)
c.862-6141T>C (n.862-6141T>C)
c.606T>C (p.Asp202=)
c.61-6141T>C (n.61-6141T>C)
c.442-6141T>C (n.442-6141T>C)
2g.233760893T>GCA351067356UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6141T>G (n.856-6141T>G)
c.868-6141T>G (n.868-6141T>G)
c.862-6141T>G (n.862-6141T>G)
c.606T>G (p.Asp202Glu)
c.61-6141T>G (n.61-6141T>G)
c.442-6141T>G (n.442-6141T>G)
2g.233760894C>ACA351067361UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140C>A (n.856-6140C>A)
c.868-6140C>A (n.868-6140C>A)
c.862-6140C>A (n.862-6140C>A)
c.607C>A (p.His203Asn)
c.61-6140C>A (n.61-6140C>A)
c.442-6140C>A (n.442-6140C>A)
gnomAD v4
2g.233760894C=CA1335889642UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140C= (n.856-6140C=)
c.868-6140C= (n.868-6140C=)
c.862-6140C= (n.862-6140C=)
c.607C= (p.His203=)
c.61-6140C= (n.61-6140C=)
c.442-6140C= (n.442-6140C=)
2g.233760894C>GCA351067364UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140C>G (n.856-6140C>G)
c.868-6140C>G (n.868-6140C>G)
c.862-6140C>G (n.862-6140C>G)
c.607C>G (p.His203Asp)
c.61-6140C>G (n.61-6140C>G)
c.442-6140C>G (n.442-6140C>G)
2g.233760894C>TCA351067362UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140C>T (n.856-6140C>T)
c.868-6140C>T (n.868-6140C>T)
c.862-6140C>T (n.862-6140C>T)
c.607C>T (p.His203Tyr)
c.61-6140C>T (n.61-6140C>T)
c.442-6140C>T (n.442-6140C>T)
dbSNP gnomAD v4
2g.233760894_233760918delinsCACATGACCTTCCTGCAGCGGGTGACA1335889643UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6140_856-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.856-6140_856-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
c.868-6140_868-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.868-6140_868-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
c.862-6140_862-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.862-6140_862-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
c.607_631delinsCACATGACCTTCCTGCAGCGGGTGA (p.His203=)
c.61-6140_61-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.61-6140_61-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
c.442-6140_442-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.442-6140_442-6116delinsCACATGACCTTCCTGCAGCGGGTGA)
2g.233760895A>CCA351067366UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6139A>C (n.856-6139A>C)
c.868-6139A>C (n.868-6139A>C)
c.862-6139A>C (n.862-6139A>C)
c.608A>C (p.His203Pro)
c.61-6139A>C (n.61-6139A>C)
c.442-6139A>C (n.442-6139A>C)
2g.233760895A>GCA351067368UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6139A>G (n.856-6139A>G)
c.868-6139A>G (n.868-6139A>G)
c.862-6139A>G (n.862-6139A>G)
c.608A>G (p.His203Arg)
c.61-6139A>G (n.61-6139A>G)
c.442-6139A>G (n.442-6139A>G)
2g.233760895A>TCA351067369UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6139A>T (n.856-6139A>T)
c.868-6139A>T (n.868-6139A>T)
c.862-6139A>T (n.862-6139A>T)
c.608A>T (p.His203Leu)
c.61-6139A>T (n.61-6139A>T)
c.442-6139A>T (n.442-6139A>T)
2g.233760896_233760919delCA645372713UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6138_856-6115del (n.856-6138_856-6115del)
c.868-6138_868-6115del (n.868-6138_868-6115del)
c.862-6138_862-6115del (n.862-6138_862-6115del)
c.609_632del (p.His203_Lys211delinsGln)
c.61-6138_61-6115del (n.61-6138_61-6115del)
c.442-6138_442-6115del (n.442-6138_442-6115del)
ClinVar dbSNP gnomAD v4
2g.233760896C>ACA351067371UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6138C>A (n.856-6138C>A)
c.868-6138C>A (n.868-6138C>A)
c.862-6138C>A (n.862-6138C>A)
c.609C>A (p.His203Gln)
c.61-6138C>A (n.61-6138C>A)
c.442-6138C>A (n.442-6138C>A)
COSMIC
2g.233760896C>GCA351067373UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6138C>G (n.856-6138C>G)
c.868-6138C>G (n.868-6138C>G)
c.862-6138C>G (n.862-6138C>G)
c.609C>G (p.His203Gln)
c.61-6138C>G (n.61-6138C>G)
c.442-6138C>G (n.442-6138C>G)
2g.233760896C>TCA431960689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6138C>T (n.856-6138C>T)
c.868-6138C>T (n.868-6138C>T)
c.862-6138C>T (n.862-6138C>T)
c.609C>T (p.His203=)
c.61-6138C>T (n.61-6138C>T)
c.442-6138C>T (n.442-6138C>T)
2g.233760897A>CCA351067375UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6137A>C (n.856-6137A>C)
c.868-6137A>C (n.868-6137A>C)
c.862-6137A>C (n.862-6137A>C)
c.610A>C (p.Met204Leu)
c.61-6137A>C (n.61-6137A>C)
c.442-6137A>C (n.442-6137A>C)
2g.233760897A>GCA351067376UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6137A>G (n.856-6137A>G)
c.868-6137A>G (n.868-6137A>G)
c.862-6137A>G (n.862-6137A>G)
c.610A>G (p.Met204Val)
c.61-6137A>G (n.61-6137A>G)
c.442-6137A>G (n.442-6137A>G)
COSMIC COSMIC
2g.233760897A>TCA351067378UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6137A>T (n.856-6137A>T)
c.868-6137A>T (n.868-6137A>T)
c.862-6137A>T (n.862-6137A>T)
c.610A>T (p.Met204Leu)
c.61-6137A>T (n.61-6137A>T)
c.442-6137A>T (n.442-6137A>T)
2g.233760898T>ACA351067380UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6136T>A (n.856-6136T>A)
c.868-6136T>A (n.868-6136T>A)
c.862-6136T>A (n.862-6136T>A)
c.611T>A (p.Met204Lys)
c.61-6136T>A (n.61-6136T>A)
c.442-6136T>A (n.442-6136T>A)
2g.233760898T>CCA351067381UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6136T>C (n.856-6136T>C)
c.868-6136T>C (n.868-6136T>C)
c.862-6136T>C (n.862-6136T>C)
c.611T>C (p.Met204Thr)
c.61-6136T>C (n.61-6136T>C)
c.442-6136T>C (n.442-6136T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760898T>GCA351067382UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6136T>G (n.856-6136T>G)
c.868-6136T>G (n.868-6136T>G)
c.862-6136T>G (n.862-6136T>G)
c.611T>G (p.Met204Arg)
c.61-6136T>G (n.61-6136T>G)
c.442-6136T>G (n.442-6136T>G)
dbSNP
2g.233760898T=CA1335889649UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6136T= (n.856-6136T=)
c.868-6136T= (n.868-6136T=)
c.862-6136T= (n.862-6136T=)
c.611T= (p.Met204=)
c.61-6136T= (n.61-6136T=)
c.442-6136T= (n.442-6136T=)
2g.233760899G>ACA351067388UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6135G>A (n.856-6135G>A)
c.868-6135G>A (n.868-6135G>A)
c.862-6135G>A (n.862-6135G>A)
c.612G>A (p.Met204Ile)
c.61-6135G>A (n.61-6135G>A)
c.442-6135G>A (n.442-6135G>A)
dbSNP gnomAD v3 gnomAD v4
2g.233760899G>CCA351067386UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6135G>C (n.856-6135G>C)
c.868-6135G>C (n.868-6135G>C)
c.862-6135G>C (n.862-6135G>C)
c.612G>C (p.Met204Ile)
c.61-6135G>C (n.61-6135G>C)
c.442-6135G>C (n.442-6135G>C)
2g.233760899G=CA1335889655UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6135G= (n.856-6135G=)
c.868-6135G= (n.868-6135G=)
c.862-6135G= (n.862-6135G=)
c.612G= (p.Met204=)
c.61-6135G= (n.61-6135G=)
c.442-6135G= (n.442-6135G=)
2g.233760899G>TCA351067384UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6135G>T (n.856-6135G>T)
c.868-6135G>T (n.868-6135G>T)
c.862-6135G>T (n.862-6135G>T)
c.612G>T (p.Met204Ile)
c.61-6135G>T (n.61-6135G>T)
c.442-6135G>T (n.442-6135G>T)
2g.233760900A>CCA351067390UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6134A>C (n.856-6134A>C)
c.868-6134A>C (n.868-6134A>C)
c.862-6134A>C (n.862-6134A>C)
c.613A>C (p.Thr205Pro)
c.61-6134A>C (n.61-6134A>C)
c.442-6134A>C (n.442-6134A>C)
2g.233760900A>GCA351067392UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6134A>G (n.856-6134A>G)
c.868-6134A>G (n.868-6134A>G)
c.862-6134A>G (n.862-6134A>G)
c.613A>G (p.Thr205Ala)
c.61-6134A>G (n.61-6134A>G)
c.442-6134A>G (n.442-6134A>G)
gnomAD v4
2g.233760900A>TCA351067393UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6134A>T (n.856-6134A>T)
c.868-6134A>T (n.868-6134A>T)
c.862-6134A>T (n.862-6134A>T)
c.613A>T (p.Thr205Ser)
c.61-6134A>T (n.61-6134A>T)
c.442-6134A>T (n.442-6134A>T)
2g.233760900_233760901delinsACCA1335889658UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6134_856-6133delinsAC (n.856-6134_856-6133delinsAC)
c.868-6134_868-6133delinsAC (n.868-6134_868-6133delinsAC)
c.862-6134_862-6133delinsAC (n.862-6134_862-6133delinsAC)
c.613_614delinsAC (p.Thr205=)
c.61-6134_61-6133delinsAC (n.61-6134_61-6133delinsAC)
c.442-6134_442-6133delinsAC (n.442-6134_442-6133delinsAC)
2g.233760901C>ACA351067395UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6133C>A (n.856-6133C>A)
c.868-6133C>A (n.868-6133C>A)
c.862-6133C>A (n.862-6133C>A)
c.614C>A (p.Thr205Asn)
c.61-6133C>A (n.61-6133C>A)
c.442-6133C>A (n.442-6133C>A)
2g.233760901C=CA1335889662UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6133C= (n.856-6133C=)
c.868-6133C= (n.868-6133C=)
c.862-6133C= (n.862-6133C=)
c.614C= (p.Thr205=)
c.61-6133C= (n.61-6133C=)
c.442-6133C= (n.442-6133C=)
2g.233760901C>GCA351067397UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6133C>G (n.856-6133C>G)
c.868-6133C>G (n.868-6133C>G)
c.862-6133C>G (n.862-6133C>G)
c.614C>G (p.Thr205Ser)
c.61-6133C>G (n.61-6133C>G)
c.442-6133C>G (n.442-6133C>G)
2g.233760901C>TCA2179854UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6133C>T (n.856-6133C>T)
c.868-6133C>T (n.868-6133C>T)
c.862-6133C>T (n.862-6133C>T)
c.614C>T (p.Thr205Ile)
c.61-6133C>T (n.61-6133C>T)
c.442-6133C>T (n.442-6133C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760902delCA1043554932UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132del (n.856-6132del)
c.868-6132del (n.868-6132del)
c.862-6132del (n.862-6132del)
c.615del (p.Phe206SerfsTer5)
c.61-6132del (n.61-6132del)
c.442-6132del (n.442-6132del)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.233760902C>ACA431960785UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132C>A (n.856-6132C>A)
c.868-6132C>A (n.868-6132C>A)
c.862-6132C>A (n.862-6132C>A)
c.615C>A (p.Thr205=)
c.61-6132C>A (n.61-6132C>A)
c.442-6132C>A (n.442-6132C>A)
2g.233760902C=CA1335889664UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132C= (n.856-6132C=)
c.868-6132C= (n.868-6132C=)
c.862-6132C= (n.862-6132C=)
c.615C= (p.Thr205=)
c.61-6132C= (n.61-6132C=)
c.442-6132C= (n.442-6132C=)
2g.233760902C>GCA431960787UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132C>G (n.856-6132C>G)
c.868-6132C>G (n.868-6132C>G)
c.862-6132C>G (n.862-6132C>G)
c.615C>G (p.Thr205=)
c.61-6132C>G (n.61-6132C>G)
c.442-6132C>G (n.442-6132C>G)
2g.233760902C>TCA431960786UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6132C>T (n.856-6132C>T)
c.868-6132C>T (n.868-6132C>T)
c.862-6132C>T (n.862-6132C>T)
c.615C>T (p.Thr205=)
c.61-6132C>T (n.61-6132C>T)
c.442-6132C>T (n.442-6132C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760903T>ACA351067400UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6131T>A (n.856-6131T>A)
c.868-6131T>A (n.868-6131T>A)
c.862-6131T>A (n.862-6131T>A)
c.616T>A (p.Phe206Ile)
c.61-6131T>A (n.61-6131T>A)
c.442-6131T>A (n.442-6131T>A)
2g.233760903T>CCA351067402UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6131T>C (n.856-6131T>C)
c.868-6131T>C (n.868-6131T>C)
c.862-6131T>C (n.862-6131T>C)
c.616T>C (p.Phe206Leu)
c.61-6131T>C (n.61-6131T>C)
c.442-6131T>C (n.442-6131T>C)
2g.233760903T>GCA351067404UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6131T>G (n.856-6131T>G)
c.868-6131T>G (n.868-6131T>G)
c.862-6131T>G (n.862-6131T>G)
c.616T>G (p.Phe206Val)
c.61-6131T>G (n.61-6131T>G)
c.442-6131T>G (n.442-6131T>G)
2g.233760904T>ACA351067409UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6130T>A (n.856-6130T>A)
c.868-6130T>A (n.868-6130T>A)
c.862-6130T>A (n.862-6130T>A)
c.617T>A (p.Phe206Tyr)
c.61-6130T>A (n.61-6130T>A)
c.442-6130T>A (n.442-6130T>A)
2g.233760904T>CCA351067411UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6130T>C (n.856-6130T>C)
c.868-6130T>C (n.868-6130T>C)
c.862-6130T>C (n.862-6130T>C)
c.617T>C (p.Phe206Ser)
c.61-6130T>C (n.61-6130T>C)
c.442-6130T>C (n.442-6130T>C)
2g.233760904T>GCA351067412UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6130T>G (n.856-6130T>G)
c.868-6130T>G (n.868-6130T>G)
c.862-6130T>G (n.862-6130T>G)
c.617T>G (p.Phe206Cys)
c.61-6130T>G (n.61-6130T>G)
c.442-6130T>G (n.442-6130T>G)
2g.233760905C>ACA351067414UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6129C>A (n.856-6129C>A)
c.868-6129C>A (n.868-6129C>A)
c.862-6129C>A (n.862-6129C>A)
c.618C>A (p.Phe206Leu)
c.61-6129C>A (n.61-6129C>A)
c.442-6129C>A (n.442-6129C>A)
2g.233760905C>GCA351067416UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6129C>G (n.856-6129C>G)
c.868-6129C>G (n.868-6129C>G)
c.862-6129C>G (n.862-6129C>G)
c.618C>G (p.Phe206Leu)
c.61-6129C>G (n.61-6129C>G)
c.442-6129C>G (n.442-6129C>G)
2g.233760905C>TCA431960788UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6129C>T (n.856-6129C>T)
c.868-6129C>T (n.868-6129C>T)
c.862-6129C>T (n.862-6129C>T)
c.618C>T (p.Phe206=)
c.61-6129C>T (n.61-6129C>T)
c.442-6129C>T (n.442-6129C>T)
2g.233760906C>ACA351067418UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6128C>A (n.856-6128C>A)
c.868-6128C>A (n.868-6128C>A)
c.862-6128C>A (n.862-6128C>A)
c.619C>A (p.Leu207Met)
c.61-6128C>A (n.61-6128C>A)
c.442-6128C>A (n.442-6128C>A)
2g.233760906C>GCA351067420UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6128C>G (n.856-6128C>G)
c.868-6128C>G (n.868-6128C>G)
c.862-6128C>G (n.862-6128C>G)
c.619C>G (p.Leu207Val)
c.61-6128C>G (n.61-6128C>G)
c.442-6128C>G (n.442-6128C>G)
2g.233760906C>TCA431960789UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6128C>T (n.856-6128C>T)
c.868-6128C>T (n.868-6128C>T)
c.862-6128C>T (n.862-6128C>T)
c.619C>T (p.Leu207=)
c.61-6128C>T (n.61-6128C>T)
c.442-6128C>T (n.442-6128C>T)
2g.233760907T>ACA351067422UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6127T>A (n.856-6127T>A)
c.868-6127T>A (n.868-6127T>A)
c.862-6127T>A (n.862-6127T>A)
c.620T>A (p.Leu207Gln)
c.61-6127T>A (n.61-6127T>A)
c.442-6127T>A (n.442-6127T>A)
gnomAD v4
2g.233760907T>CCA351067429UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6127T>C (n.856-6127T>C)
c.868-6127T>C (n.868-6127T>C)
c.862-6127T>C (n.862-6127T>C)
c.620T>C (p.Leu207Pro)
c.61-6127T>C (n.61-6127T>C)
c.442-6127T>C (n.442-6127T>C)
2g.233760907T>GCA351067426UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6127T>G (n.856-6127T>G)
c.868-6127T>G (n.868-6127T>G)
c.862-6127T>G (n.862-6127T>G)
c.620T>G (p.Leu207Arg)
c.61-6127T>G (n.61-6127T>G)
c.442-6127T>G (n.442-6127T>G)
2g.233760908G>ACA431960791UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6126G>A (n.856-6126G>A)
c.868-6126G>A (n.868-6126G>A)
c.862-6126G>A (n.862-6126G>A)
c.621G>A (p.Leu207=)
c.61-6126G>A (n.61-6126G>A)
c.442-6126G>A (n.442-6126G>A)
dbSNP gnomAD v3 gnomAD v4
2g.233760908G>CCA431960790UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6126G>C (n.856-6126G>C)
c.868-6126G>C (n.868-6126G>C)
c.862-6126G>C (n.862-6126G>C)
c.621G>C (p.Leu207=)
c.61-6126G>C (n.61-6126G>C)
c.442-6126G>C (n.442-6126G>C)
2g.233760908G=CA1335889669UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6126G= (n.856-6126G=)
c.868-6126G= (n.868-6126G=)
c.862-6126G= (n.862-6126G=)
c.621G= (p.Leu207=)
c.61-6126G= (n.61-6126G=)
c.442-6126G= (n.442-6126G=)
2g.233760908G>TCA431960792UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6126G>T (n.856-6126G>T)
c.868-6126G>T (n.868-6126G>T)
c.862-6126G>T (n.862-6126G>T)
c.621G>T (p.Leu207=)
c.61-6126G>T (n.61-6126G>T)
c.442-6126G>T (n.442-6126G>T)
2g.233760909C>ACA351067432UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6125C>A (n.856-6125C>A)
c.868-6125C>A (n.868-6125C>A)
c.862-6125C>A (n.862-6125C>A)
c.622C>A (p.Gln208Lys)
c.61-6125C>A (n.61-6125C>A)
c.442-6125C>A (n.442-6125C>A)
2g.233760909C>GCA351067433UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6125C>G (n.856-6125C>G)
c.868-6125C>G (n.868-6125C>G)
c.862-6125C>G (n.862-6125C>G)
c.622C>G (p.Gln208Glu)
c.61-6125C>G (n.61-6125C>G)
c.442-6125C>G (n.442-6125C>G)
2g.233760909C>TCA351067430UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6125C>T (n.856-6125C>T)
c.868-6125C>T (n.868-6125C>T)
c.862-6125C>T (n.862-6125C>T)
c.622C>T (p.Gln208Ter)
c.61-6125C>T (n.61-6125C>T)
c.442-6125C>T (n.442-6125C>T)
dbSNP
2g.233760909_233760912dupCA2179855UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6125_856-6122dup (n.856-6125_856-6122dup)
c.868-6125_868-6122dup (n.868-6125_868-6122dup)
c.862-6125_862-6122dup (n.862-6125_862-6122dup)
c.622_625dup (p.Arg209ProfsTer?)
c.61-6125_61-6122dup (n.61-6125_61-6122dup)
c.442-6125_442-6122dup (n.442-6125_442-6122dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760910A=CA1335889675UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6124A= (n.856-6124A=)
c.868-6124A= (n.868-6124A=)
c.862-6124A= (n.862-6124A=)
c.623A= (p.Gln208=)
c.61-6124A= (n.61-6124A=)
c.442-6124A= (n.442-6124A=)
2g.233760910A>CCA351067439UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6124A>C (n.856-6124A>C)
c.868-6124A>C (n.868-6124A>C)
c.862-6124A>C (n.862-6124A>C)
c.623A>C (p.Gln208Pro)
c.61-6124A>C (n.61-6124A>C)
c.442-6124A>C (n.442-6124A>C)
2g.233760910A>GCA351067436UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6124A>G (n.856-6124A>G)
c.868-6124A>G (n.868-6124A>G)
c.862-6124A>G (n.862-6124A>G)
c.623A>G (p.Gln208Arg)
c.61-6124A>G (n.61-6124A>G)
c.442-6124A>G (n.442-6124A>G)
dbSNP gnomAD v3 gnomAD v4
2g.233760910A>TCA351067437UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6124A>T (n.856-6124A>T)
c.868-6124A>T (n.868-6124A>T)
c.862-6124A>T (n.862-6124A>T)
c.623A>T (p.Gln208Leu)
c.61-6124A>T (n.61-6124A>T)
c.442-6124A>T (n.442-6124A>T)
2g.233760911G>ACA431960793UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6123G>A (n.856-6123G>A)
c.868-6123G>A (n.868-6123G>A)
c.862-6123G>A (n.862-6123G>A)
c.624G>A (p.Gln208=)
c.61-6123G>A (n.61-6123G>A)
c.442-6123G>A (n.442-6123G>A)
2g.233760911G>CCA351067440UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6123G>C (n.856-6123G>C)
c.868-6123G>C (n.868-6123G>C)
c.862-6123G>C (n.862-6123G>C)
c.624G>C (p.Gln208His)
c.61-6123G>C (n.61-6123G>C)
c.442-6123G>C (n.442-6123G>C)
2g.233760911G>TCA351067441UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6123G>T (n.856-6123G>T)
c.868-6123G>T (n.868-6123G>T)
c.862-6123G>T (n.862-6123G>T)
c.624G>T (p.Gln208His)
c.61-6123G>T (n.61-6123G>T)
c.442-6123G>T (n.442-6123G>T)
2g.233760912C>ACA2179858UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6122C>A (n.856-6122C>A)
c.868-6122C>A (n.868-6122C>A)
c.862-6122C>A (n.862-6122C>A)
c.625C>A (p.Arg209=)
c.61-6122C>A (n.61-6122C>A)
c.442-6122C>A (n.442-6122C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760912C=CA1335889678UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6122C= (n.856-6122C=)
c.868-6122C= (n.868-6122C=)
c.862-6122C= (n.862-6122C=)
c.625C= (p.Arg209=)
c.61-6122C= (n.61-6122C=)
c.442-6122C= (n.442-6122C=)
2g.233760912C>GCA2179857UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6122C>G (n.856-6122C>G)
c.868-6122C>G (n.868-6122C>G)
c.862-6122C>G (n.862-6122C>G)
c.625C>G (p.Arg209Gly)
c.61-6122C>G (n.61-6122C>G)
c.442-6122C>G (n.442-6122C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760912C>TCA2179856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6122C>T (n.856-6122C>T)
c.868-6122C>T (n.868-6122C>T)
c.862-6122C>T (n.862-6122C>T)
c.625C>T (p.Arg209Trp)
c.61-6122C>T (n.61-6122C>T)
c.442-6122C>T (n.442-6122C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760913G>ACA2179859UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6121G>A (n.856-6121G>A)
c.868-6121G>A (n.868-6121G>A)
c.862-6121G>A (n.862-6121G>A)
c.626G>A (p.Arg209Gln)
c.61-6121G>A (n.61-6121G>A)
c.442-6121G>A (n.442-6121G>A)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.233760913G>CCA67590213UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6121G>C (n.856-6121G>C)
c.868-6121G>C (n.868-6121G>C)
c.862-6121G>C (n.862-6121G>C)
c.626G>C (p.Arg209Pro)
c.61-6121G>C (n.61-6121G>C)
c.442-6121G>C (n.442-6121G>C)
dbSNP
2g.233760913G=CA1335889686UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6121G= (n.856-6121G=)
c.868-6121G= (n.868-6121G=)
c.862-6121G= (n.862-6121G=)
c.626G= (p.Arg209=)
c.61-6121G= (n.61-6121G=)
c.442-6121G= (n.442-6121G=)
2g.233760913G>TCA351067445UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6121G>T (n.856-6121G>T)
c.868-6121G>T (n.868-6121G>T)
c.862-6121G>T (n.862-6121G>T)
c.626G>T (p.Arg209Leu)
c.61-6121G>T (n.61-6121G>T)
c.442-6121G>T (n.442-6121G>T)
COSMIC COSMIC
2g.233760914_233760915delCA2577284382UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6120_856-6119del (n.856-6120_856-6119del)
c.868-6120_868-6119del (n.868-6120_868-6119del)
c.862-6120_862-6119del (n.862-6120_862-6119del)
c.627_628del (p.Val210GlufsTer?)
c.61-6120_61-6119del (n.61-6120_61-6119del)
c.442-6120_442-6119del (n.442-6120_442-6119del)
2g.233760914G>ACA431960795UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6120G>A (n.856-6120G>A)
c.868-6120G>A (n.868-6120G>A)
c.862-6120G>A (n.862-6120G>A)
c.627G>A (p.Arg209=)
c.61-6120G>A (n.61-6120G>A)
c.442-6120G>A (n.442-6120G>A)
dbSNP gnomAD v2 gnomAD v4
2g.233760914G>CCA431960796UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6120G>C (n.856-6120G>C)
c.868-6120G>C (n.868-6120G>C)
c.862-6120G>C (n.862-6120G>C)
c.627G>C (p.Arg209=)
c.61-6120G>C (n.61-6120G>C)
c.442-6120G>C (n.442-6120G>C)
2g.233760914G=CA1335889689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6120G= (n.856-6120G=)
c.868-6120G= (n.868-6120G=)
c.862-6120G= (n.862-6120G=)
c.627G= (p.Arg209=)
c.61-6120G= (n.61-6120G=)
c.442-6120G= (n.442-6120G=)
2g.233760914G>TCA431960794UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6120G>T (n.856-6120G>T)
c.868-6120G>T (n.868-6120G>T)
c.862-6120G>T (n.862-6120G>T)
c.627G>T (p.Arg209=)
c.61-6120G>T (n.61-6120G>T)
c.442-6120G>T (n.442-6120G>T)
2g.233760915G>ACA2179860UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6119G>A (n.856-6119G>A)
c.868-6119G>A (n.868-6119G>A)
c.862-6119G>A (n.862-6119G>A)
c.628G>A (p.Val210Met)
c.61-6119G>A (n.61-6119G>A)
c.442-6119G>A (n.442-6119G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760915G>CCA351067449UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6119G>C (n.856-6119G>C)
c.868-6119G>C (n.868-6119G>C)
c.862-6119G>C (n.862-6119G>C)
c.628G>C (p.Val210Leu)
c.61-6119G>C (n.61-6119G>C)
c.442-6119G>C (n.442-6119G>C)
dbSNP
2g.233760915G=CA1335889691UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6119G= (n.856-6119G=)
c.868-6119G= (n.868-6119G=)
c.862-6119G= (n.862-6119G=)
c.628G= (p.Val210=)
c.61-6119G= (n.61-6119G=)
c.442-6119G= (n.442-6119G=)
2g.233760915G>TCA351067447UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6119G>T (n.856-6119G>T)
c.868-6119G>T (n.868-6119G>T)
c.862-6119G>T (n.862-6119G>T)
c.628G>T (p.Val210Leu)
c.61-6119G>T (n.61-6119G>T)
c.442-6119G>T (n.442-6119G>T)
COSMIC
2g.233760916delCA2663717549UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6118del (n.856-6118del)
c.868-6118del (n.868-6118del)
c.862-6118del (n.862-6118del)
c.629del (p.Val210GlyfsTer?)
c.61-6118del (n.61-6118del)
c.442-6118del (n.442-6118del)
gnomAD v4
2g.233760916T>ACA351067452UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6118T>A (n.856-6118T>A)
c.868-6118T>A (n.868-6118T>A)
c.862-6118T>A (n.862-6118T>A)
c.629T>A (p.Val210Glu)
c.61-6118T>A (n.61-6118T>A)
c.442-6118T>A (n.442-6118T>A)
2g.233760916T>CCA351067457UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6118T>C (n.856-6118T>C)
c.868-6118T>C (n.868-6118T>C)
c.862-6118T>C (n.862-6118T>C)
c.629T>C (p.Val210Ala)
c.61-6118T>C (n.61-6118T>C)
c.442-6118T>C (n.442-6118T>C)
2g.233760916T>GCA351067458UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6118T>G (n.856-6118T>G)
c.868-6118T>G (n.868-6118T>G)
c.862-6118T>G (n.862-6118T>G)
c.629T>G (p.Val210Gly)
c.61-6118T>G (n.61-6118T>G)
c.442-6118T>G (n.442-6118T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760916T=CA1335889692UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6118T= (n.856-6118T=)
c.868-6118T= (n.868-6118T=)
c.862-6118T= (n.862-6118T=)
c.629T= (p.Val210=)
c.61-6118T= (n.61-6118T=)
c.442-6118T= (n.442-6118T=)
2g.233760917G>ACA431960797UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6117G>A (n.856-6117G>A)
c.868-6117G>A (n.868-6117G>A)
c.862-6117G>A (n.862-6117G>A)
c.630G>A (p.Val210=)
c.61-6117G>A (n.61-6117G>A)
c.442-6117G>A (n.442-6117G>A)
2g.233760917G>CCA431960799UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6117G>C (n.856-6117G>C)
c.868-6117G>C (n.868-6117G>C)
c.862-6117G>C (n.862-6117G>C)
c.630G>C (p.Val210=)
c.61-6117G>C (n.61-6117G>C)
c.442-6117G>C (n.442-6117G>C)
2g.233760917G>TCA431960798UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6117G>T (n.856-6117G>T)
c.868-6117G>T (n.868-6117G>T)
c.862-6117G>T (n.862-6117G>T)
c.630G>T (p.Val210=)
c.61-6117G>T (n.61-6117G>T)
c.442-6117G>T (n.442-6117G>T)
2g.233760918A>CCA351067460UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6116A>C (n.856-6116A>C)
c.868-6116A>C (n.868-6116A>C)
c.862-6116A>C (n.862-6116A>C)
c.631A>C (p.Lys211Gln)
c.61-6116A>C (n.61-6116A>C)
c.442-6116A>C (n.442-6116A>C)
2g.233760918A>GCA351067462UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6116A>G (n.856-6116A>G)
c.868-6116A>G (n.868-6116A>G)
c.862-6116A>G (n.862-6116A>G)
c.631A>G (p.Lys211Glu)
c.61-6116A>G (n.61-6116A>G)
c.442-6116A>G (n.442-6116A>G)
2g.233760918A>TCA351067464UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6116A>T (n.856-6116A>T)
c.868-6116A>T (n.868-6116A>T)
c.862-6116A>T (n.862-6116A>T)
c.631A>T (p.Lys211Ter)
c.61-6116A>T (n.61-6116A>T)
c.442-6116A>T (n.442-6116A>T)
2g.233760919A>CCA351067466UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6115A>C (n.856-6115A>C)
c.868-6115A>C (n.868-6115A>C)
c.862-6115A>C (n.862-6115A>C)
c.632A>C (p.Lys211Thr)
c.61-6115A>C (n.61-6115A>C)
c.442-6115A>C (n.442-6115A>C)
2g.233760919A>GCA351067468UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6115A>G (n.856-6115A>G)
c.868-6115A>G (n.868-6115A>G)
c.862-6115A>G (n.862-6115A>G)
c.632A>G (p.Lys211Arg)
c.61-6115A>G (n.61-6115A>G)
c.442-6115A>G (n.442-6115A>G)
2g.233760919A>TCA351067469UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6115A>T (n.856-6115A>T)
c.868-6115A>T (n.868-6115A>T)
c.862-6115A>T (n.862-6115A>T)
c.632A>T (p.Lys211Met)
c.61-6115A>T (n.61-6115A>T)
c.442-6115A>T (n.442-6115A>T)
2g.233760920G>ACA431960800UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6114G>A (n.856-6114G>A)
c.868-6114G>A (n.868-6114G>A)
c.862-6114G>A (n.862-6114G>A)
c.633G>A (p.Lys211=)
c.61-6114G>A (n.61-6114G>A)
c.442-6114G>A (n.442-6114G>A)
2g.233760920G>CCA351067470UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6114G>C (n.856-6114G>C)
c.868-6114G>C (n.868-6114G>C)
c.862-6114G>C (n.862-6114G>C)
c.633G>C (p.Lys211Asn)
c.61-6114G>C (n.61-6114G>C)
c.442-6114G>C (n.442-6114G>C)
2g.233760920G>TCA351067471UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6114G>T (n.856-6114G>T)
c.868-6114G>T (n.868-6114G>T)
c.862-6114G>T (n.862-6114G>T)
c.633G>T (p.Lys211Asn)
c.61-6114G>T (n.61-6114G>T)
c.442-6114G>T (n.442-6114G>T)
2g.233760921A>CCA351067474UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6113A>C (n.856-6113A>C)
c.868-6113A>C (n.868-6113A>C)
c.862-6113A>C (n.862-6113A>C)
c.634A>C (p.Asn212His)
c.61-6113A>C (n.61-6113A>C)
c.442-6113A>C (n.442-6113A>C)
2g.233760921A>GCA351067475UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6113A>G (n.856-6113A>G)
c.868-6113A>G (n.868-6113A>G)
c.862-6113A>G (n.862-6113A>G)
c.634A>G (p.Asn212Asp)
c.61-6113A>G (n.61-6113A>G)
c.442-6113A>G (n.442-6113A>G)
2g.233760921A>TCA351067472UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6113A>T (n.856-6113A>T)
c.868-6113A>T (n.868-6113A>T)
c.862-6113A>T (n.862-6113A>T)
c.634A>T (p.Asn212Tyr)
c.61-6113A>T (n.61-6113A>T)
c.442-6113A>T (n.442-6113A>T)
2g.233760922A>CCA351067477UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6112A>C (n.856-6112A>C)
c.868-6112A>C (n.868-6112A>C)
c.862-6112A>C (n.862-6112A>C)
c.635A>C (p.Asn212Thr)
c.61-6112A>C (n.61-6112A>C)
c.442-6112A>C (n.442-6112A>C)
2g.233760922A>GCA351067479UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6112A>G (n.856-6112A>G)
c.868-6112A>G (n.868-6112A>G)
c.862-6112A>G (n.862-6112A>G)
c.635A>G (p.Asn212Ser)
c.61-6112A>G (n.61-6112A>G)
c.442-6112A>G (n.442-6112A>G)
2g.233760922A>TCA351067481UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6112A>T (n.856-6112A>T)
c.868-6112A>T (n.868-6112A>T)
c.862-6112A>T (n.862-6112A>T)
c.635A>T (p.Asn212Ile)
c.61-6112A>T (n.61-6112A>T)
c.442-6112A>T (n.442-6112A>T)
2g.233760923C>ACA351067484UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6111C>A (n.856-6111C>A)
c.868-6111C>A (n.868-6111C>A)
c.862-6111C>A (n.862-6111C>A)
c.636C>A (p.Asn212Lys)
c.61-6111C>A (n.61-6111C>A)
c.442-6111C>A (n.442-6111C>A)
2g.233760923C=CA1335889695UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6111C= (n.856-6111C=)
c.868-6111C= (n.868-6111C=)
c.862-6111C= (n.862-6111C=)
c.636C= (p.Asn212=)
c.61-6111C= (n.61-6111C=)
c.442-6111C= (n.442-6111C=)
2g.233760923C>GCA351067485UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6111C>G (n.856-6111C>G)
c.868-6111C>G (n.868-6111C>G)
c.862-6111C>G (n.862-6111C>G)
c.636C>G (p.Asn212Lys)
c.61-6111C>G (n.61-6111C>G)
c.442-6111C>G (n.442-6111C>G)
gnomAD v4
2g.233760923C>TCA67590224UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6111C>T (n.856-6111C>T)
c.868-6111C>T (n.868-6111C>T)
c.862-6111C>T (n.862-6111C>T)
c.636C>T (p.Asn212=)
c.61-6111C>T (n.61-6111C>T)
c.442-6111C>T (n.442-6111C>T)
dbSNP
2g.233760924A>CCA351067488UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6110A>C (n.856-6110A>C)
c.868-6110A>C (n.868-6110A>C)
c.862-6110A>C (n.862-6110A>C)
c.637A>C (p.Met213Leu)
c.61-6110A>C (n.61-6110A>C)
c.442-6110A>C (n.442-6110A>C)
2g.233760924A>GCA351067490UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6110A>G (n.856-6110A>G)
c.868-6110A>G (n.868-6110A>G)
c.862-6110A>G (n.862-6110A>G)
c.637A>G (p.Met213Val)
c.61-6110A>G (n.61-6110A>G)
c.442-6110A>G (n.442-6110A>G)
2g.233760924A>TCA351067491UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6110A>T (n.856-6110A>T)
c.868-6110A>T (n.868-6110A>T)
c.862-6110A>T (n.862-6110A>T)
c.637A>T (p.Met213Leu)
c.61-6110A>T (n.61-6110A>T)
c.442-6110A>T (n.442-6110A>T)
2g.233760925T>ACA351067493UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6109T>A (n.856-6109T>A)
c.868-6109T>A (n.868-6109T>A)
c.862-6109T>A (n.862-6109T>A)
c.638T>A (p.Met213Lys)
c.61-6109T>A (n.61-6109T>A)
c.442-6109T>A (n.442-6109T>A)
2g.233760925T>CCA351067495UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6109T>C (n.856-6109T>C)
c.868-6109T>C (n.868-6109T>C)
c.862-6109T>C (n.862-6109T>C)
c.638T>C (p.Met213Thr)
c.61-6109T>C (n.61-6109T>C)
c.442-6109T>C (n.442-6109T>C)
2g.233760925T>GCA351067496UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6109T>G (n.856-6109T>G)
c.868-6109T>G (n.868-6109T>G)
c.862-6109T>G (n.862-6109T>G)
c.638T>G (p.Met213Arg)
c.61-6109T>G (n.61-6109T>G)
c.442-6109T>G (n.442-6109T>G)
2g.233760926G>ACA351067503UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6108G>A (n.856-6108G>A)
c.868-6108G>A (n.868-6108G>A)
c.862-6108G>A (n.862-6108G>A)
c.639G>A (p.Met213Ile)
c.61-6108G>A (n.61-6108G>A)
c.442-6108G>A (n.442-6108G>A)
2g.233760926G>CCA351067497UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6108G>C (n.856-6108G>C)
c.868-6108G>C (n.868-6108G>C)
c.862-6108G>C (n.862-6108G>C)
c.639G>C (p.Met213Ile)
c.61-6108G>C (n.61-6108G>C)
c.442-6108G>C (n.442-6108G>C)
2g.233760926G>TCA351067501UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6108G>T (n.856-6108G>T)
c.868-6108G>T (n.868-6108G>T)
c.862-6108G>T (n.862-6108G>T)
c.639G>T (p.Met213Ile)
c.61-6108G>T (n.61-6108G>T)
c.442-6108G>T (n.442-6108G>T)
2g.233760927C>ACA351067505UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6107C>A (n.856-6107C>A)
c.868-6107C>A (n.868-6107C>A)
c.862-6107C>A (n.862-6107C>A)
c.640C>A (p.Leu214Ile)
c.61-6107C>A (n.61-6107C>A)
c.442-6107C>A (n.442-6107C>A)
2g.233760927C=CA1335889697UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6107C= (n.856-6107C=)
c.868-6107C= (n.868-6107C=)
c.862-6107C= (n.862-6107C=)
c.640C= (p.Leu214=)
c.61-6107C= (n.61-6107C=)
c.442-6107C= (n.442-6107C=)
2g.233760927C>GCA351067506UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6107C>G (n.856-6107C>G)
c.868-6107C>G (n.868-6107C>G)
c.862-6107C>G (n.862-6107C>G)
c.640C>G (p.Leu214Val)
c.61-6107C>G (n.61-6107C>G)
c.442-6107C>G (n.442-6107C>G)
2g.233760927C>TCA351067507UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6107C>T (n.856-6107C>T)
c.868-6107C>T (n.868-6107C>T)
c.862-6107C>T (n.862-6107C>T)
c.640C>T (p.Leu214Phe)
c.61-6107C>T (n.61-6107C>T)
c.442-6107C>T (n.442-6107C>T)
dbSNP gnomAD v2 gnomAD v4
2g.233760928T>ACA351067509UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6106T>A (n.856-6106T>A)
c.868-6106T>A (n.868-6106T>A)
c.862-6106T>A (n.862-6106T>A)
c.641T>A (p.Leu214His)
c.61-6106T>A (n.61-6106T>A)
c.442-6106T>A (n.442-6106T>A)
dbSNP
2g.233760928T>CCA351067510UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6106T>C (n.856-6106T>C)
c.868-6106T>C (n.868-6106T>C)
c.862-6106T>C (n.862-6106T>C)
c.641T>C (p.Leu214Pro)
c.61-6106T>C (n.61-6106T>C)
c.442-6106T>C (n.442-6106T>C)
dbSNP gnomAD v2 gnomAD v4
2g.233760928T>GCA351067512UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6106T>G (n.856-6106T>G)
c.868-6106T>G (n.868-6106T>G)
c.862-6106T>G (n.862-6106T>G)
c.641T>G (p.Leu214Arg)
c.61-6106T>G (n.61-6106T>G)
c.442-6106T>G (n.442-6106T>G)
2g.233760928T=CA1335889700UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6106T= (n.856-6106T=)
c.868-6106T= (n.868-6106T=)
c.862-6106T= (n.862-6106T=)
c.641T= (p.Leu214=)
c.61-6106T= (n.61-6106T=)
c.442-6106T= (n.442-6106T=)
2g.233760929C>ACA431960802UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6105C>A (n.856-6105C>A)
c.868-6105C>A (n.868-6105C>A)
c.862-6105C>A (n.862-6105C>A)
c.642C>A (p.Leu214=)
c.61-6105C>A (n.61-6105C>A)
c.442-6105C>A (n.442-6105C>A)
2g.233760929C>GCA431960801UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6105C>G (n.856-6105C>G)
c.868-6105C>G (n.868-6105C>G)
c.862-6105C>G (n.862-6105C>G)
c.642C>G (p.Leu214=)
c.61-6105C>G (n.61-6105C>G)
c.442-6105C>G (n.442-6105C>G)
2g.233760929C>TCA431960803UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6105C>T (n.856-6105C>T)
c.868-6105C>T (n.868-6105C>T)
c.862-6105C>T (n.862-6105C>T)
c.642C>T (p.Leu214=)
c.61-6105C>T (n.61-6105C>T)
c.442-6105C>T (n.442-6105C>T)
2g.233760930A=CA1335889702UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6104A= (n.856-6104A=)
c.868-6104A= (n.868-6104A=)
c.862-6104A= (n.862-6104A=)
c.643A= (p.Ile215=)
c.61-6104A= (n.61-6104A=)
c.442-6104A= (n.442-6104A=)
2g.233760930A>CCA351067514UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6104A>C (n.856-6104A>C)
c.868-6104A>C (n.868-6104A>C)
c.862-6104A>C (n.862-6104A>C)
c.643A>C (p.Ile215Leu)
c.61-6104A>C (n.61-6104A>C)
c.442-6104A>C (n.442-6104A>C)
2g.233760930A>GCA2179861UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6104A>G (n.856-6104A>G)
c.868-6104A>G (n.868-6104A>G)
c.862-6104A>G (n.862-6104A>G)
c.643A>G (p.Ile215Val)
c.61-6104A>G (n.61-6104A>G)
c.442-6104A>G (n.442-6104A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760930A>TCA351067517UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6104A>T (n.856-6104A>T)
c.868-6104A>T (n.868-6104A>T)
c.862-6104A>T (n.862-6104A>T)
c.643A>T (p.Ile215Phe)
c.61-6104A>T (n.61-6104A>T)
c.442-6104A>T (n.442-6104A>T)
gnomAD v4
2g.233760931T>ACA351067520UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6103T>A (n.856-6103T>A)
c.868-6103T>A (n.868-6103T>A)
c.862-6103T>A (n.862-6103T>A)
c.644T>A (p.Ile215Asn)
c.61-6103T>A (n.61-6103T>A)
c.442-6103T>A (n.442-6103T>A)
2g.233760931T>CCA351067523UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6103T>C (n.856-6103T>C)
c.868-6103T>C (n.868-6103T>C)
c.862-6103T>C (n.862-6103T>C)
c.644T>C (p.Ile215Thr)
c.61-6103T>C (n.61-6103T>C)
c.442-6103T>C (n.442-6103T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760931T>GCA351067525UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6103T>G (n.856-6103T>G)
c.868-6103T>G (n.868-6103T>G)
c.862-6103T>G (n.862-6103T>G)
c.644T>G (p.Ile215Ser)
c.61-6103T>G (n.61-6103T>G)
c.442-6103T>G (n.442-6103T>G)
2g.233760931T=CA1335889707UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6103T= (n.856-6103T=)
c.868-6103T= (n.868-6103T=)
c.862-6103T= (n.862-6103T=)
c.644T= (p.Ile215=)
c.61-6103T= (n.61-6103T=)
c.442-6103T= (n.442-6103T=)
2g.233760932T>ACA431960804UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6102T>A (n.856-6102T>A)
c.868-6102T>A (n.868-6102T>A)
c.862-6102T>A (n.862-6102T>A)
c.645T>A (p.Ile215=)
c.61-6102T>A (n.61-6102T>A)
c.442-6102T>A (n.442-6102T>A)
2g.233760932T>CCA431960805UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6102T>C (n.856-6102T>C)
c.868-6102T>C (n.868-6102T>C)
c.862-6102T>C (n.862-6102T>C)
c.645T>C (p.Ile215=)
c.61-6102T>C (n.61-6102T>C)
c.442-6102T>C (n.442-6102T>C)
gnomAD v4
2g.233760932T>GCA351067528UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6102T>G (n.856-6102T>G)
c.868-6102T>G (n.868-6102T>G)
c.862-6102T>G (n.862-6102T>G)
c.645T>G (p.Ile215Met)
c.61-6102T>G (n.61-6102T>G)
c.442-6102T>G (n.442-6102T>G)
2g.233760933G>ACA351067538UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6101G>A (n.856-6101G>A)
c.868-6101G>A (n.868-6101G>A)
c.862-6101G>A (n.862-6101G>A)
c.646G>A (p.Ala216Thr)
c.61-6101G>A (n.61-6101G>A)
c.442-6101G>A (n.442-6101G>A)
dbSNP gnomAD v4
2g.233760933G>CCA351067537UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6101G>C (n.856-6101G>C)
c.868-6101G>C (n.868-6101G>C)
c.862-6101G>C (n.862-6101G>C)
c.646G>C (p.Ala216Pro)
c.61-6101G>C (n.61-6101G>C)
c.442-6101G>C (n.442-6101G>C)
2g.233760933G=CA1335889709UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6101G= (n.856-6101G=)
c.868-6101G= (n.868-6101G=)
c.862-6101G= (n.862-6101G=)
c.646G= (p.Ala216=)
c.61-6101G= (n.61-6101G=)
c.442-6101G= (n.442-6101G=)
2g.233760933G>TCA351067536UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6101G>T (n.856-6101G>T)
c.868-6101G>T (n.868-6101G>T)
c.862-6101G>T (n.862-6101G>T)
c.646G>T (p.Ala216Ser)
c.61-6101G>T (n.61-6101G>T)
c.442-6101G>T (n.442-6101G>T)
2g.233760934C>ACA67590268UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6100C>A (n.856-6100C>A)
c.868-6100C>A (n.868-6100C>A)
c.862-6100C>A (n.862-6100C>A)
c.647C>A (p.Ala216Asp)
c.61-6100C>A (n.61-6100C>A)
c.442-6100C>A (n.442-6100C>A)
dbSNP gnomAD v2 gnomAD v4
2g.233760934C=CA1335889711UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6100C= (n.856-6100C=)
c.868-6100C= (n.868-6100C=)
c.862-6100C= (n.862-6100C=)
c.647C= (p.Ala216=)
c.61-6100C= (n.61-6100C=)
c.442-6100C= (n.442-6100C=)
2g.233760934C>GCA351067540UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6100C>G (n.856-6100C>G)
c.868-6100C>G (n.868-6100C>G)
c.862-6100C>G (n.862-6100C>G)
c.647C>G (p.Ala216Gly)
c.61-6100C>G (n.61-6100C>G)
c.442-6100C>G (n.442-6100C>G)
2g.233760934C>TCA351067551UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6100C>T (n.856-6100C>T)
c.868-6100C>T (n.868-6100C>T)
c.862-6100C>T (n.862-6100C>T)
c.647C>T (p.Ala216Val)
c.61-6100C>T (n.61-6100C>T)
c.442-6100C>T (n.442-6100C>T)
dbSNP COSMIC
2g.233760935C>ACA431960808UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6099C>A (n.856-6099C>A)
c.868-6099C>A (n.868-6099C>A)
c.862-6099C>A (n.862-6099C>A)
c.648C>A (p.Ala216=)
c.61-6099C>A (n.61-6099C>A)
c.442-6099C>A (n.442-6099C>A)
2g.233760935C=CA1335889715UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6099C= (n.856-6099C=)
c.868-6099C= (n.868-6099C=)
c.862-6099C= (n.862-6099C=)
c.648C= (p.Ala216=)
c.61-6099C= (n.61-6099C=)
c.442-6099C= (n.442-6099C=)
2g.233760935C>GCA431960806UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6099C>G (n.856-6099C>G)
c.868-6099C>G (n.868-6099C>G)
c.862-6099C>G (n.862-6099C>G)
c.648C>G (p.Ala216=)
c.61-6099C>G (n.61-6099C>G)
c.442-6099C>G (n.442-6099C>G)
dbSNP
2g.233760935C>TCA431960807UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6099C>T (n.856-6099C>T)
c.868-6099C>T (n.868-6099C>T)
c.862-6099C>T (n.862-6099C>T)
c.648C>T (p.Ala216=)
c.61-6099C>T (n.61-6099C>T)
c.442-6099C>T (n.442-6099C>T)
dbSNP COSMIC
2g.233760936T>ACA351067553UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6098T>A (n.856-6098T>A)
c.868-6098T>A (n.868-6098T>A)
c.862-6098T>A (n.862-6098T>A)
c.649T>A (p.Phe217Ile)
c.61-6098T>A (n.61-6098T>A)
c.442-6098T>A (n.442-6098T>A)
2g.233760936T>CCA351067556UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6098T>C (n.856-6098T>C)
c.868-6098T>C (n.868-6098T>C)
c.862-6098T>C (n.862-6098T>C)
c.649T>C (p.Phe217Leu)
c.61-6098T>C (n.61-6098T>C)
c.442-6098T>C (n.442-6098T>C)
2g.233760936T>GCA351067558UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6098T>G (n.856-6098T>G)
c.868-6098T>G (n.868-6098T>G)
c.862-6098T>G (n.862-6098T>G)
c.649T>G (p.Phe217Val)
c.61-6098T>G (n.61-6098T>G)
c.442-6098T>G (n.442-6098T>G)
2g.233760939dupCA2577284383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6095dup (n.856-6095dup)
c.868-6095dup (n.868-6095dup)
c.862-6095dup (n.862-6095dup)
c.652dup (p.Ser218PhefsTer?)
c.61-6095dup (n.61-6095dup)
c.442-6095dup (n.442-6095dup)
gnomAD v4
2g.233760937T>ACA351067561UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6097T>A (n.856-6097T>A)
c.868-6097T>A (n.868-6097T>A)
c.862-6097T>A (n.862-6097T>A)
c.650T>A (p.Phe217Tyr)
c.61-6097T>A (n.61-6097T>A)
c.442-6097T>A (n.442-6097T>A)
2g.233760937T>CCA351067564UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6097T>C (n.856-6097T>C)
c.868-6097T>C (n.868-6097T>C)
c.862-6097T>C (n.862-6097T>C)
c.650T>C (p.Phe217Ser)
c.61-6097T>C (n.61-6097T>C)
c.442-6097T>C (n.442-6097T>C)
2g.233760937T>GCA351067565UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6097T>G (n.856-6097T>G)
c.868-6097T>G (n.868-6097T>G)
c.862-6097T>G (n.862-6097T>G)
c.650T>G (p.Phe217Cys)
c.61-6097T>G (n.61-6097T>G)
c.442-6097T>G (n.442-6097T>G)
2g.233760938T>ACA351067569UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6096T>A (n.856-6096T>A)
c.868-6096T>A (n.868-6096T>A)
c.862-6096T>A (n.862-6096T>A)
c.651T>A (p.Phe217Leu)
c.61-6096T>A (n.61-6096T>A)
c.442-6096T>A (n.442-6096T>A)
2g.233760938T>CCA431960809UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6096T>C (n.856-6096T>C)
c.868-6096T>C (n.868-6096T>C)
c.862-6096T>C (n.862-6096T>C)
c.651T>C (p.Phe217=)
c.61-6096T>C (n.61-6096T>C)
c.442-6096T>C (n.442-6096T>C)
2g.233760938T>GCA351067566UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6096T>G (n.856-6096T>G)
c.868-6096T>G (n.868-6096T>G)
c.862-6096T>G (n.862-6096T>G)
c.651T>G (p.Phe217Leu)
c.61-6096T>G (n.61-6096T>G)
c.442-6096T>G (n.442-6096T>G)
2g.233760939T>ACA351067572UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6095T>A (n.856-6095T>A)
c.868-6095T>A (n.868-6095T>A)
c.862-6095T>A (n.862-6095T>A)
c.652T>A (p.Ser218Thr)
c.61-6095T>A (n.61-6095T>A)
c.442-6095T>A (n.442-6095T>A)
2g.233760939T>CCA351067577UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6095T>C (n.856-6095T>C)
c.868-6095T>C (n.868-6095T>C)
c.862-6095T>C (n.862-6095T>C)
c.652T>C (p.Ser218Pro)
c.61-6095T>C (n.61-6095T>C)
c.442-6095T>C (n.442-6095T>C)
2g.233760939T>GCA351067580UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6095T>G (n.856-6095T>G)
c.868-6095T>G (n.868-6095T>G)
c.862-6095T>G (n.862-6095T>G)
c.652T>G (p.Ser218Ala)
c.61-6095T>G (n.61-6095T>G)
c.442-6095T>G (n.442-6095T>G)
2g.233760940C>ACA351067587UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6094C>A (n.856-6094C>A)
c.868-6094C>A (n.868-6094C>A)
c.862-6094C>A (n.862-6094C>A)
c.653C>A (p.Ser218Ter)
c.61-6094C>A (n.61-6094C>A)
c.442-6094C>A (n.442-6094C>A)
dbSNP
2g.233760940C>GCA351067590UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6094C>G (n.856-6094C>G)
c.868-6094C>G (n.868-6094C>G)
c.862-6094C>G (n.862-6094C>G)
c.653C>G (p.Ser218Ter)
c.61-6094C>G (n.61-6094C>G)
c.442-6094C>G (n.442-6094C>G)
2g.233760940C>TCA351067593UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6094C>T (n.856-6094C>T)
c.868-6094C>T (n.868-6094C>T)
c.862-6094C>T (n.862-6094C>T)
c.653C>T (p.Ser218Leu)
c.61-6094C>T (n.61-6094C>T)
c.442-6094C>T (n.442-6094C>T)
COSMIC COSMIC
2g.233760941A>CCA431960810UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6093A>C (n.856-6093A>C)
c.868-6093A>C (n.868-6093A>C)
c.862-6093A>C (n.862-6093A>C)
c.654A>C (p.Ser218=)
c.61-6093A>C (n.61-6093A>C)
c.442-6093A>C (n.442-6093A>C)
2g.233760941A>GCA431960812UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6093A>G (n.856-6093A>G)
c.868-6093A>G (n.868-6093A>G)
c.862-6093A>G (n.862-6093A>G)
c.654A>G (p.Ser218=)
c.61-6093A>G (n.61-6093A>G)
c.442-6093A>G (n.442-6093A>G)
2g.233760941A>TCA431960811UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6093A>T (n.856-6093A>T)
c.868-6093A>T (n.868-6093A>T)
c.862-6093A>T (n.862-6093A>T)
c.654A>T (p.Ser218=)
c.61-6093A>T (n.61-6093A>T)
c.442-6093A>T (n.442-6093A>T)
2g.233760942C>ACA351067600UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6092C>A (n.856-6092C>A)
c.868-6092C>A (n.868-6092C>A)
c.862-6092C>A (n.862-6092C>A)
c.655C>A (p.Gln219Lys)
c.61-6092C>A (n.61-6092C>A)
c.442-6092C>A (n.442-6092C>A)
2g.233760942C=CA1335889717UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6092C= (n.856-6092C=)
c.868-6092C= (n.868-6092C=)
c.862-6092C= (n.862-6092C=)
c.655C= (p.Gln219=)
c.61-6092C= (n.61-6092C=)
c.442-6092C= (n.442-6092C=)
2g.233760942C>GCA351067604UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6092C>G (n.856-6092C>G)
c.868-6092C>G (n.868-6092C>G)
c.862-6092C>G (n.862-6092C>G)
c.655C>G (p.Gln219Glu)
c.61-6092C>G (n.61-6092C>G)
c.442-6092C>G (n.442-6092C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760942C>TCA351067601UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6092C>T (n.856-6092C>T)
c.868-6092C>T (n.868-6092C>T)
c.862-6092C>T (n.862-6092C>T)
c.655C>T (p.Gln219Ter)
c.61-6092C>T (n.61-6092C>T)
c.442-6092C>T (n.442-6092C>T)
gnomAD v4
2g.233760943A=CA1335889721UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6091A= (n.856-6091A=)
c.868-6091A= (n.868-6091A=)
c.862-6091A= (n.862-6091A=)
c.656A= (p.Gln219=)
c.61-6091A= (n.61-6091A=)
c.442-6091A= (n.442-6091A=)
2g.233760943A>CCA351067606UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6091A>C (n.856-6091A>C)
c.868-6091A>C (n.868-6091A>C)
c.862-6091A>C (n.862-6091A>C)
c.656A>C (p.Gln219Pro)
c.61-6091A>C (n.61-6091A>C)
c.442-6091A>C (n.442-6091A>C)
2g.233760943A>GCA351067608UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6091A>G (n.856-6091A>G)
c.868-6091A>G (n.868-6091A>G)
c.862-6091A>G (n.862-6091A>G)
c.656A>G (p.Gln219Arg)
c.61-6091A>G (n.61-6091A>G)
c.442-6091A>G (n.442-6091A>G)
dbSNP gnomAD v2 gnomAD v4
2g.233760943A>TCA351067610UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6091A>T (n.856-6091A>T)
c.868-6091A>T (n.868-6091A>T)
c.862-6091A>T (n.862-6091A>T)
c.656A>T (p.Gln219Leu)
c.61-6091A>T (n.61-6091A>T)
c.442-6091A>T (n.442-6091A>T)
2g.233760944G>ACA431960813UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6090G>A (n.856-6090G>A)
c.868-6090G>A (n.868-6090G>A)
c.862-6090G>A (n.862-6090G>A)
c.657G>A (p.Gln219=)
c.61-6090G>A (n.61-6090G>A)
c.442-6090G>A (n.442-6090G>A)
2g.233760944G>CCA351067614UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6090G>C (n.856-6090G>C)
c.868-6090G>C (n.868-6090G>C)
c.862-6090G>C (n.862-6090G>C)
c.657G>C (p.Gln219His)
c.61-6090G>C (n.61-6090G>C)
c.442-6090G>C (n.442-6090G>C)
dbSNP gnomAD v3 gnomAD v4
2g.233760944G=CA1335889726UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6090G= (n.856-6090G=)
c.868-6090G= (n.868-6090G=)
c.862-6090G= (n.862-6090G=)
c.657G= (p.Gln219=)
c.61-6090G= (n.61-6090G=)
c.442-6090G= (n.442-6090G=)
2g.233760944G>TCA351067616UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6090G>T (n.856-6090G>T)
c.868-6090G>T (n.868-6090G>T)
c.862-6090G>T (n.862-6090G>T)
c.657G>T (p.Gln219His)
c.61-6090G>T (n.61-6090G>T)
c.442-6090G>T (n.442-6090G>T)
2g.233760945A>CCA351067619UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6089A>C (n.856-6089A>C)
c.868-6089A>C (n.868-6089A>C)
c.862-6089A>C (n.862-6089A>C)
c.658A>C (p.Asn220His)
c.61-6089A>C (n.61-6089A>C)
c.442-6089A>C (n.442-6089A>C)
2g.233760945A>GCA351067624UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6089A>G (n.856-6089A>G)
c.868-6089A>G (n.868-6089A>G)
c.862-6089A>G (n.862-6089A>G)
c.658A>G (p.Asn220Asp)
c.61-6089A>G (n.61-6089A>G)
c.442-6089A>G (n.442-6089A>G)
2g.233760945A>TCA351067627UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6089A>T (n.856-6089A>T)
c.868-6089A>T (n.868-6089A>T)
c.862-6089A>T (n.862-6089A>T)
c.658A>T (p.Asn220Tyr)
c.61-6089A>T (n.61-6089A>T)
c.442-6089A>T (n.442-6089A>T)
2g.233760946A>CCA351067629UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6088A>C (n.856-6088A>C)
c.868-6088A>C (n.868-6088A>C)
c.862-6088A>C (n.862-6088A>C)
c.659A>C (p.Asn220Thr)
c.61-6088A>C (n.61-6088A>C)
c.442-6088A>C (n.442-6088A>C)
2g.233760946A>GCA351067632UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6088A>G (n.856-6088A>G)
c.868-6088A>G (n.868-6088A>G)
c.862-6088A>G (n.862-6088A>G)
c.659A>G (p.Asn220Ser)
c.61-6088A>G (n.61-6088A>G)
c.442-6088A>G (n.442-6088A>G)
2g.233760946A>TCA351067636UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6088A>T (n.856-6088A>T)
c.868-6088A>T (n.868-6088A>T)
c.862-6088A>T (n.862-6088A>T)
c.659A>T (p.Asn220Ile)
c.61-6088A>T (n.61-6088A>T)
c.442-6088A>T (n.442-6088A>T)
2g.233760947C>ACA351067638UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6087C>A (n.856-6087C>A)
c.868-6087C>A (n.868-6087C>A)
c.862-6087C>A (n.862-6087C>A)
c.660C>A (p.Asn220Lys)
c.61-6087C>A (n.61-6087C>A)
c.442-6087C>A (n.442-6087C>A)
2g.233760947C>GCA351067641UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6087C>G (n.856-6087C>G)
c.868-6087C>G (n.868-6087C>G)
c.862-6087C>G (n.862-6087C>G)
c.660C>G (p.Asn220Lys)
c.61-6087C>G (n.61-6087C>G)
c.442-6087C>G (n.442-6087C>G)
2g.233760947C>TCA431960814UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6087C>T (n.856-6087C>T)
c.868-6087C>T (n.868-6087C>T)
c.862-6087C>T (n.862-6087C>T)
c.660C>T (p.Asn220=)
c.61-6087C>T (n.61-6087C>T)
c.442-6087C>T (n.442-6087C>T)
2g.233760948T>ACA351067644UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6086T>A (n.856-6086T>A)
c.868-6086T>A (n.868-6086T>A)
c.862-6086T>A (n.862-6086T>A)
c.661T>A (p.Phe221Ile)
c.61-6086T>A (n.61-6086T>A)
c.442-6086T>A (n.442-6086T>A)
2g.233760948T>CCA351067647UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6086T>C (n.856-6086T>C)
c.868-6086T>C (n.868-6086T>C)
c.862-6086T>C (n.862-6086T>C)
c.661T>C (p.Phe221Leu)
c.61-6086T>C (n.61-6086T>C)
c.442-6086T>C (n.442-6086T>C)
2g.233760948T>GCA2179862UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6086T>G (n.856-6086T>G)
c.868-6086T>G (n.868-6086T>G)
c.862-6086T>G (n.862-6086T>G)
c.661T>G (p.Phe221Val)
c.61-6086T>G (n.61-6086T>G)
c.442-6086T>G (n.442-6086T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760948T=CA1335889729UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6086T= (n.856-6086T=)
c.868-6086T= (n.868-6086T=)
c.862-6086T= (n.862-6086T=)
c.661T= (p.Phe221=)
c.61-6086T= (n.61-6086T=)
c.442-6086T= (n.442-6086T=)
2g.233760949T>ACA351067653UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6085T>A (n.856-6085T>A)
c.868-6085T>A (n.868-6085T>A)
c.862-6085T>A (n.862-6085T>A)
c.662T>A (p.Phe221Tyr)
c.61-6085T>A (n.61-6085T>A)
c.442-6085T>A (n.442-6085T>A)
2g.233760949T>CCA351067656UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6085T>C (n.856-6085T>C)
c.868-6085T>C (n.868-6085T>C)
c.862-6085T>C (n.862-6085T>C)
c.662T>C (p.Phe221Ser)
c.61-6085T>C (n.61-6085T>C)
c.442-6085T>C (n.442-6085T>C)
2g.233760949T>GCA351067660UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6085T>G (n.856-6085T>G)
c.868-6085T>G (n.868-6085T>G)
c.862-6085T>G (n.862-6085T>G)
c.662T>G (p.Phe221Cys)
c.61-6085T>G (n.61-6085T>G)
c.442-6085T>G (n.442-6085T>G)
2g.233760950T>ACA351067662UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6084T>A (n.856-6084T>A)
c.868-6084T>A (n.868-6084T>A)
c.862-6084T>A (n.862-6084T>A)
c.663T>A (p.Phe221Leu)
c.61-6084T>A (n.61-6084T>A)
c.442-6084T>A (n.442-6084T>A)
2g.233760950T>CCA431960815UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6084T>C (n.856-6084T>C)
c.868-6084T>C (n.868-6084T>C)
c.862-6084T>C (n.862-6084T>C)
c.663T>C (p.Phe221=)
c.61-6084T>C (n.61-6084T>C)
c.442-6084T>C (n.442-6084T>C)
gnomAD v4
2g.233760950T>GCA351067664UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6084T>G (n.856-6084T>G)
c.868-6084T>G (n.868-6084T>G)
c.862-6084T>G (n.862-6084T>G)
c.663T>G (p.Phe221Leu)
c.61-6084T>G (n.61-6084T>G)
c.442-6084T>G (n.442-6084T>G)
2g.233760951C>ACA351067666UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6083C>A (n.856-6083C>A)
c.868-6083C>A (n.868-6083C>A)
c.862-6083C>A (n.862-6083C>A)
c.664C>A (p.Leu222Met)
c.61-6083C>A (n.61-6083C>A)
c.442-6083C>A (n.442-6083C>A)
2g.233760951C>GCA351067670UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6083C>G (n.856-6083C>G)
c.868-6083C>G (n.868-6083C>G)
c.862-6083C>G (n.862-6083C>G)
c.664C>G (p.Leu222Val)
c.61-6083C>G (n.61-6083C>G)
c.442-6083C>G (n.442-6083C>G)
2g.233760951C>TCA431960816UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6083C>T (n.856-6083C>T)
c.868-6083C>T (n.868-6083C>T)
c.862-6083C>T (n.862-6083C>T)
c.664C>T (p.Leu222=)
c.61-6083C>T (n.61-6083C>T)
c.442-6083C>T (n.442-6083C>T)
2g.233760952T>ACA351067674UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6082T>A (n.856-6082T>A)
c.868-6082T>A (n.868-6082T>A)
c.862-6082T>A (n.862-6082T>A)
c.665T>A (p.Leu222Gln)
c.61-6082T>A (n.61-6082T>A)
c.442-6082T>A (n.442-6082T>A)
COSMIC COSMIC
2g.233760952T>CCA351067678UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6082T>C (n.856-6082T>C)
c.868-6082T>C (n.868-6082T>C)
c.862-6082T>C (n.862-6082T>C)
c.665T>C (p.Leu222Pro)
c.61-6082T>C (n.61-6082T>C)
c.442-6082T>C (n.442-6082T>C)
2g.233760952T>GCA351067682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6082T>G (n.856-6082T>G)
c.868-6082T>G (n.868-6082T>G)
c.862-6082T>G (n.862-6082T>G)
c.665T>G (p.Leu222Arg)
c.61-6082T>G (n.61-6082T>G)
c.442-6082T>G (n.442-6082T>G)
2g.233760953G>ACA431960817UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6081G>A (n.856-6081G>A)
c.868-6081G>A (n.868-6081G>A)
c.862-6081G>A (n.862-6081G>A)
c.666G>A (p.Leu222=)
c.61-6081G>A (n.61-6081G>A)
c.442-6081G>A (n.442-6081G>A)
2g.233760953G>CCA431960819UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6081G>C (n.856-6081G>C)
c.868-6081G>C (n.868-6081G>C)
c.862-6081G>C (n.862-6081G>C)
c.666G>C (p.Leu222=)
c.61-6081G>C (n.61-6081G>C)
c.442-6081G>C (n.442-6081G>C)
2g.233760953G>TCA431960818UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6081G>T (n.856-6081G>T)
c.868-6081G>T (n.868-6081G>T)
c.862-6081G>T (n.862-6081G>T)
c.666G>T (p.Leu222=)
c.61-6081G>T (n.61-6081G>T)
c.442-6081G>T (n.442-6081G>T)
2g.233760954T>ACA351067689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6080T>A (n.856-6080T>A)
c.868-6080T>A (n.868-6080T>A)
c.862-6080T>A (n.862-6080T>A)
c.667T>A (p.Cys223Ser)
c.61-6080T>A (n.61-6080T>A)
c.442-6080T>A (n.442-6080T>A)
2g.233760954T>CCA351067684UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6080T>C (n.856-6080T>C)
c.868-6080T>C (n.868-6080T>C)
c.862-6080T>C (n.862-6080T>C)
c.667T>C (p.Cys223Arg)
c.61-6080T>C (n.61-6080T>C)
c.442-6080T>C (n.442-6080T>C)
2g.233760954T>GCA351067688UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6080T>G (n.856-6080T>G)
c.868-6080T>G (n.868-6080T>G)
c.862-6080T>G (n.862-6080T>G)
c.667T>G (p.Cys223Gly)
c.61-6080T>G (n.61-6080T>G)
c.442-6080T>G (n.442-6080T>G)
2g.233760955G>ACA351067694UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6079G>A (n.856-6079G>A)
c.868-6079G>A (n.868-6079G>A)
c.862-6079G>A (n.862-6079G>A)
c.668G>A (p.Cys223Tyr)
c.61-6079G>A (n.61-6079G>A)
c.442-6079G>A (n.442-6079G>A)
dbSNP
2g.233760955G>CCA351067697UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6079G>C (n.856-6079G>C)
c.868-6079G>C (n.868-6079G>C)
c.862-6079G>C (n.862-6079G>C)
c.668G>C (p.Cys223Ser)
c.61-6079G>C (n.61-6079G>C)
c.442-6079G>C (n.442-6079G>C)
2g.233760955G>TCA351067701UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6079G>T (n.856-6079G>T)
c.868-6079G>T (n.868-6079G>T)
c.862-6079G>T (n.862-6079G>T)
c.668G>T (p.Cys223Phe)
c.61-6079G>T (n.61-6079G>T)
c.442-6079G>T (n.442-6079G>T)
2g.233760956C>ACA351067705UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6078C>A (n.856-6078C>A)
c.868-6078C>A (n.868-6078C>A)
c.862-6078C>A (n.862-6078C>A)
c.669C>A (p.Cys223Ter)
c.61-6078C>A (n.61-6078C>A)
c.442-6078C>A (n.442-6078C>A)
dbSNP
2g.233760956C=CA1335889735UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6078C= (n.856-6078C=)
c.868-6078C= (n.868-6078C=)
c.862-6078C= (n.862-6078C=)
c.669C= (p.Cys223=)
c.61-6078C= (n.61-6078C=)
c.442-6078C= (n.442-6078C=)
2g.233760956C>GCA351067709UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6078C>G (n.856-6078C>G)
c.868-6078C>G (n.868-6078C>G)
c.862-6078C>G (n.862-6078C>G)
c.669C>G (p.Cys223Trp)
c.61-6078C>G (n.61-6078C>G)
c.442-6078C>G (n.442-6078C>G)
2g.233760956C>TCA2179863UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6078C>T (n.856-6078C>T)
c.868-6078C>T (n.868-6078C>T)
c.862-6078C>T (n.862-6078C>T)
c.669C>T (p.Cys223=)
c.61-6078C>T (n.61-6078C>T)
c.442-6078C>T (n.442-6078C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.233760957G>ACA2179864UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6077G>A (n.856-6077G>A)
c.868-6077G>A (n.868-6077G>A)
c.862-6077G>A (n.862-6077G>A)
c.670G>A (p.Asp224Asn)
c.61-6077G>A (n.61-6077G>A)
c.442-6077G>A (n.442-6077G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.233760957G>CCA351067715UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6077G>C (n.856-6077G>C)
c.868-6077G>C (n.868-6077G>C)
c.862-6077G>C (n.862-6077G>C)
c.670G>C (p.Asp224His)
c.61-6077G>C (n.61-6077G>C)
c.442-6077G>C (n.442-6077G>C)
dbSNP
2g.233760957G=CA1335889747UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6077G= (n.856-6077G=)
c.868-6077G= (n.868-6077G=)
c.862-6077G= (n.862-6077G=)
c.670G= (p.Asp224=)
c.61-6077G= (n.61-6077G=)
c.442-6077G= (n.442-6077G=)
2g.233760957G>TCA351067718UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6077G>T (n.856-6077G>T)
c.868-6077G>T (n.868-6077G>T)
c.862-6077G>T (n.862-6077G>T)
c.670G>T (p.Asp224Tyr)
c.61-6077G>T (n.61-6077G>T)
c.442-6077G>T (n.442-6077G>T)
2g.233760958A=CA1335889751UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6076A= (n.856-6076A=)
c.868-6076A= (n.868-6076A=)
c.862-6076A= (n.862-6076A=)
c.671A= (p.Asp224=)
c.61-6076A= (n.61-6076A=)
c.442-6076A= (n.442-6076A=)
2g.233760958A>CCA351067725UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6076A>C (n.856-6076A>C)
c.868-6076A>C (n.868-6076A>C)
c.862-6076A>C (n.862-6076A>C)
c.671A>C (p.Asp224Ala)
c.61-6076A>C (n.61-6076A>C)
c.442-6076A>C (n.442-6076A>C)
2g.233760958A>GCA351067727UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6076A>G (n.856-6076A>G)
c.868-6076A>G (n.868-6076A>G)
c.862-6076A>G (n.862-6076A>G)
c.671A>G (p.Asp224Gly)
c.61-6076A>G (n.61-6076A>G)
c.442-6076A>G (n.442-6076A>G)
2g.233760958A>TCA67590297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6076A>T (n.856-6076A>T)
c.868-6076A>T (n.868-6076A>T)
c.862-6076A>T (n.862-6076A>T)
c.671A>T (p.Asp224Val)
c.61-6076A>T (n.61-6076A>T)
c.442-6076A>T (n.442-6076A>T)
dbSNP gnomAD v4
2g.233760959C>ACA351067732UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6075C>A (n.856-6075C>A)
c.868-6075C>A (n.868-6075C>A)
c.862-6075C>A (n.862-6075C>A)
c.672C>A (p.Asp224Glu)
c.61-6075C>A (n.61-6075C>A)
c.442-6075C>A (n.442-6075C>A)
2g.233760959C=CA1335889755UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6075C= (n.856-6075C=)
c.868-6075C= (n.868-6075C=)
c.862-6075C= (n.862-6075C=)
c.672C= (p.Asp224=)
c.61-6075C= (n.61-6075C=)
c.442-6075C= (n.442-6075C=)
2g.233760959C>GCA351067736UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6075C>G (n.856-6075C>G)
c.868-6075C>G (n.868-6075C>G)
c.862-6075C>G (n.862-6075C>G)
c.672C>G (p.Asp224Glu)
c.61-6075C>G (n.61-6075C>G)
c.442-6075C>G (n.442-6075C>G)
2g.233760959C>TCA2179865UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6075C>T (n.856-6075C>T)
c.868-6075C>T (n.868-6075C>T)
c.862-6075C>T (n.862-6075C>T)
c.672C>T (p.Asp224=)
c.61-6075C>T (n.61-6075C>T)
c.442-6075C>T (n.442-6075C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760960G>ACA2179866UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6074G>A (n.856-6074G>A)
c.868-6074G>A (n.868-6074G>A)
c.862-6074G>A (n.862-6074G>A)
c.673G>A (p.Val225Met)
c.61-6074G>A (n.61-6074G>A)
c.442-6074G>A (n.442-6074G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760960G>CCA351067750UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6074G>C (n.856-6074G>C)
c.868-6074G>C (n.868-6074G>C)
c.862-6074G>C (n.862-6074G>C)
c.673G>C (p.Val225Leu)
c.61-6074G>C (n.61-6074G>C)
c.442-6074G>C (n.442-6074G>C)
dbSNP gnomAD v3 gnomAD v4
2g.233760960G=CA1335889762UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6074G= (n.856-6074G=)
c.868-6074G= (n.868-6074G=)
c.862-6074G= (n.862-6074G=)
c.673G= (p.Val225=)
c.61-6074G= (n.61-6074G=)
c.442-6074G= (n.442-6074G=)
2g.233760960G>TCA351067748UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6074G>T (n.856-6074G>T)
c.868-6074G>T (n.868-6074G>T)
c.862-6074G>T (n.862-6074G>T)
c.673G>T (p.Val225Leu)
c.61-6074G>T (n.61-6074G>T)
c.442-6074G>T (n.442-6074G>T)
dbSNP
2g.233760961T>ACA351067754UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6073T>A (n.856-6073T>A)
c.868-6073T>A (n.868-6073T>A)
c.862-6073T>A (n.862-6073T>A)
c.674T>A (p.Val225Glu)
c.61-6073T>A (n.61-6073T>A)
c.442-6073T>A (n.442-6073T>A)
2g.233760961T>CCA351067762UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6073T>C (n.856-6073T>C)
c.868-6073T>C (n.868-6073T>C)
c.862-6073T>C (n.862-6073T>C)
c.674T>C (p.Val225Ala)
c.61-6073T>C (n.61-6073T>C)
c.442-6073T>C (n.442-6073T>C)
2g.233760961T>GCA173883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6073T>G (n.856-6073T>G)
c.868-6073T>G (n.868-6073T>G)
c.862-6073T>G (n.862-6073T>G)
c.674T>G (p.Val225Gly)
c.61-6073T>G (n.61-6073T>G)
c.442-6073T>G (n.442-6073T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760961T=CA1335889768UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6073T= (n.856-6073T=)
c.868-6073T= (n.868-6073T=)
c.862-6073T= (n.862-6073T=)
c.674T= (p.Val225=)
c.61-6073T= (n.61-6073T=)
c.442-6073T= (n.442-6073T=)

Number of alleles fetched