Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760774T>ACA351066805UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6260T>A (n.856-6260T>A)
c.868-6260T>A (n.868-6260T>A)
c.862-6260T>A (n.862-6260T>A)
c.487T>A (p.Tyr163Asn)
c.61-6260T>A (n.61-6260T>A)
c.442-6260T>A (n.442-6260T>A)
2g.233760774T>CCA351066810UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6260T>C (n.856-6260T>C)
c.868-6260T>C (n.868-6260T>C)
c.862-6260T>C (n.862-6260T>C)
c.487T>C (p.Tyr163His)
c.61-6260T>C (n.61-6260T>C)
c.442-6260T>C (n.442-6260T>C)
gnomAD v4
2g.233760774T>GCA351066811UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6260T>G (n.856-6260T>G)
c.868-6260T>G (n.868-6260T>G)
c.862-6260T>G (n.862-6260T>G)
c.487T>G (p.Tyr163Asp)
c.61-6260T>G (n.61-6260T>G)
c.442-6260T>G (n.442-6260T>G)
2g.233760775_233760778dupCA2586965607UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6259_856-6256dup (n.856-6259_856-6256dup)
c.868-6259_868-6256dup (n.868-6259_868-6256dup)
c.862-6259_862-6256dup (n.862-6259_862-6256dup)
c.488_491dup (p.Ser165ProfsTer19)
c.61-6259_61-6256dup (n.61-6259_61-6256dup)
c.442-6259_442-6256dup (n.442-6259_442-6256dup)
2g.233760775A>CCA351066814UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6259A>C (n.856-6259A>C)
c.868-6259A>C (n.868-6259A>C)
c.862-6259A>C (n.862-6259A>C)
c.488A>C (p.Tyr163Ser)
c.61-6259A>C (n.61-6259A>C)
c.442-6259A>C (n.442-6259A>C)
2g.233760775A>GCA351066816UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6259A>G (n.856-6259A>G)
c.868-6259A>G (n.868-6259A>G)
c.862-6259A>G (n.862-6259A>G)
c.488A>G (p.Tyr163Cys)
c.61-6259A>G (n.61-6259A>G)
c.442-6259A>G (n.442-6259A>G)
gnomAD v4
2g.233760775A>TCA351066818UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6259A>T (n.856-6259A>T)
c.868-6259A>T (n.868-6259A>T)
c.862-6259A>T (n.862-6259A>T)
c.488A>T (p.Tyr163Phe)
c.61-6259A>T (n.61-6259A>T)
c.442-6259A>T (n.442-6259A>T)
2g.233760776C>ACA351066820UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6258C>A (n.856-6258C>A)
c.868-6258C>A (n.868-6258C>A)
c.862-6258C>A (n.862-6258C>A)
c.489C>A (p.Tyr163Ter)
c.61-6258C>A (n.61-6258C>A)
c.442-6258C>A (n.442-6258C>A)
2g.233760776C>GCA351066822UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6258C>G (n.856-6258C>G)
c.868-6258C>G (n.868-6258C>G)
c.862-6258C>G (n.862-6258C>G)
c.489C>G (p.Tyr163Ter)
c.61-6258C>G (n.61-6258C>G)
c.442-6258C>G (n.442-6258C>G)
gnomAD v4
2g.233760776C>TCA431960458UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6258C>T (n.856-6258C>T)
c.868-6258C>T (n.868-6258C>T)
c.862-6258C>T (n.862-6258C>T)
c.489C>T (p.Tyr163=)
c.61-6258C>T (n.61-6258C>T)
c.442-6258C>T (n.442-6258C>T)
gnomAD v4
2g.233760777C>ACA351066824UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6257C>A (n.856-6257C>A)
c.868-6257C>A (n.868-6257C>A)
c.862-6257C>A (n.862-6257C>A)
c.490C>A (p.Leu164Met)
c.61-6257C>A (n.61-6257C>A)
c.442-6257C>A (n.442-6257C>A)
2g.233760777C>GCA351066826UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6257C>G (n.856-6257C>G)
c.868-6257C>G (n.868-6257C>G)
c.862-6257C>G (n.862-6257C>G)
c.490C>G (p.Leu164Val)
c.61-6257C>G (n.61-6257C>G)
c.442-6257C>G (n.442-6257C>G)
2g.233760777C>TCA431960459UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6257C>T (n.856-6257C>T)
c.868-6257C>T (n.868-6257C>T)
c.862-6257C>T (n.862-6257C>T)
c.490C>T (p.Leu164=)
c.61-6257C>T (n.61-6257C>T)
c.442-6257C>T (n.442-6257C>T)
2g.233760778T>ACA351066827UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6256T>A (n.856-6256T>A)
c.868-6256T>A (n.868-6256T>A)
c.862-6256T>A (n.862-6256T>A)
c.491T>A (p.Leu164Gln)
c.61-6256T>A (n.61-6256T>A)
c.442-6256T>A (n.442-6256T>A)
2g.233760778T>CCA351066829UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6256T>C (n.856-6256T>C)
c.868-6256T>C (n.868-6256T>C)
c.862-6256T>C (n.862-6256T>C)
c.491T>C (p.Leu164Pro)
c.61-6256T>C (n.61-6256T>C)
c.442-6256T>C (n.442-6256T>C)
2g.233760778T>GCA351066831UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6256T>G (n.856-6256T>G)
c.868-6256T>G (n.868-6256T>G)
c.862-6256T>G (n.862-6256T>G)
c.491T>G (p.Leu164Arg)
c.61-6256T>G (n.61-6256T>G)
c.442-6256T>G (n.442-6256T>G)
2g.233760779_233760780delCA2573135611UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6255_856-6254del (n.856-6255_856-6254del)
c.868-6255_868-6254del (n.868-6255_868-6254del)
c.862-6255_862-6254del (n.862-6255_862-6254del)
c.492_493del (p.Leu166AlafsTer16)
c.61-6255_61-6254del (n.61-6255_61-6254del)
c.442-6255_442-6254del (n.442-6255_442-6254del)
ClinVar dbSNP
2g.233760779G>ACA431960462UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6255G>A (n.856-6255G>A)
c.868-6255G>A (n.868-6255G>A)
c.862-6255G>A (n.862-6255G>A)
c.492G>A (p.Leu164=)
c.61-6255G>A (n.61-6255G>A)
c.442-6255G>A (n.442-6255G>A)
2g.233760779G>CCA431960460UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6255G>C (n.856-6255G>C)
c.868-6255G>C (n.868-6255G>C)
c.862-6255G>C (n.862-6255G>C)
c.492G>C (p.Leu164=)
c.61-6255G>C (n.61-6255G>C)
c.442-6255G>C (n.442-6255G>C)
2g.233760779G>TCA431960461UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6255G>T (n.856-6255G>T)
c.868-6255G>T (n.868-6255G>T)
c.862-6255G>T (n.862-6255G>T)
c.492G>T (p.Leu164=)
c.61-6255G>T (n.61-6255G>T)
c.442-6255G>T (n.442-6255G>T)
2g.233760780T>ACA351066836UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6254T>A (n.856-6254T>A)
c.868-6254T>A (n.868-6254T>A)
c.862-6254T>A (n.862-6254T>A)
c.493T>A (p.Ser165Thr)
c.61-6254T>A (n.61-6254T>A)
c.442-6254T>A (n.442-6254T>A)
2g.233760780T>CCA351066833UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6254T>C (n.856-6254T>C)
c.868-6254T>C (n.868-6254T>C)
c.862-6254T>C (n.862-6254T>C)
c.493T>C (p.Ser165Pro)
c.61-6254T>C (n.61-6254T>C)
c.442-6254T>C (n.442-6254T>C)
2g.233760780T>GCA351066834UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6254T>G (n.856-6254T>G)
c.868-6254T>G (n.868-6254T>G)
c.862-6254T>G (n.862-6254T>G)
c.493T>G (p.Ser165Ala)
c.61-6254T>G (n.61-6254T>G)
c.442-6254T>G (n.442-6254T>G)
2g.233760781C>ACA351066838UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6253C>A (n.856-6253C>A)
c.868-6253C>A (n.868-6253C>A)
c.862-6253C>A (n.862-6253C>A)
c.494C>A (p.Ser165Tyr)
c.61-6253C>A (n.61-6253C>A)
c.442-6253C>A (n.442-6253C>A)
2g.233760781C>GCA351066840UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6253C>G (n.856-6253C>G)
c.868-6253C>G (n.868-6253C>G)
c.862-6253C>G (n.862-6253C>G)
c.494C>G (p.Ser165Cys)
c.61-6253C>G (n.61-6253C>G)
c.442-6253C>G (n.442-6253C>G)
2g.233760781C>TCA351066842UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6253C>T (n.856-6253C>T)
c.868-6253C>T (n.868-6253C>T)
c.862-6253C>T (n.862-6253C>T)
c.494C>T (p.Ser165Phe)
c.61-6253C>T (n.61-6253C>T)
c.442-6253C>T (n.442-6253C>T)
2g.233760782T>ACA431960465UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6252T>A (n.856-6252T>A)
c.868-6252T>A (n.868-6252T>A)
c.862-6252T>A (n.862-6252T>A)
c.495T>A (p.Ser165=)
c.61-6252T>A (n.61-6252T>A)
c.442-6252T>A (n.442-6252T>A)
2g.233760782T>CCA431960464UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6252T>C (n.856-6252T>C)
c.868-6252T>C (n.868-6252T>C)
c.862-6252T>C (n.862-6252T>C)
c.495T>C (p.Ser165=)
c.61-6252T>C (n.61-6252T>C)
c.442-6252T>C (n.442-6252T>C)
2g.233760782T>GCA431960463UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6252T>G (n.856-6252T>G)
c.868-6252T>G (n.868-6252T>G)
c.862-6252T>G (n.862-6252T>G)
c.495T>G (p.Ser165=)
c.61-6252T>G (n.61-6252T>G)
c.442-6252T>G (n.442-6252T>G)
2g.233760783C>ACA351066844UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6251C>A (n.856-6251C>A)
c.868-6251C>A (n.868-6251C>A)
c.862-6251C>A (n.862-6251C>A)
c.496C>A (p.Leu166Met)
c.61-6251C>A (n.61-6251C>A)
c.442-6251C>A (n.442-6251C>A)
2g.233760783C>GCA351066846UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6251C>G (n.856-6251C>G)
c.868-6251C>G (n.868-6251C>G)
c.862-6251C>G (n.862-6251C>G)
c.496C>G (p.Leu166Val)
c.61-6251C>G (n.61-6251C>G)
c.442-6251C>G (n.442-6251C>G)
COSMIC COSMIC
2g.233760783C>TCA431960466UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6251C>T (n.856-6251C>T)
c.868-6251C>T (n.868-6251C>T)
c.862-6251C>T (n.862-6251C>T)
c.496C>T (p.Leu166=)
c.61-6251C>T (n.61-6251C>T)
c.442-6251C>T (n.442-6251C>T)
gnomAD v4
2g.233760784T>ACA351066849UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6250T>A (n.856-6250T>A)
c.868-6250T>A (n.868-6250T>A)
c.862-6250T>A (n.862-6250T>A)
c.497T>A (p.Leu166Gln)
c.61-6250T>A (n.61-6250T>A)
c.442-6250T>A (n.442-6250T>A)
2g.233760784T>CCA351066851UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6250T>C (n.856-6250T>C)
c.868-6250T>C (n.868-6250T>C)
c.862-6250T>C (n.862-6250T>C)
c.497T>C (p.Leu166Pro)
c.61-6250T>C (n.61-6250T>C)
c.442-6250T>C (n.442-6250T>C)
2g.233760784T>GCA2179833UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6250T>G (n.856-6250T>G)
c.868-6250T>G (n.868-6250T>G)
c.862-6250T>G (n.862-6250T>G)
c.497T>G (p.Leu166Arg)
c.61-6250T>G (n.61-6250T>G)
c.442-6250T>G (n.442-6250T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760784T=CA1335889456UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6250T= (n.856-6250T=)
c.868-6250T= (n.868-6250T=)
c.862-6250T= (n.862-6250T=)
c.497T= (p.Leu166=)
c.61-6250T= (n.61-6250T=)
c.442-6250T= (n.442-6250T=)
2g.233760785G>ACA431960468UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6249G>A (n.856-6249G>A)
c.868-6249G>A (n.868-6249G>A)
c.862-6249G>A (n.862-6249G>A)
c.498G>A (p.Leu166=)
c.61-6249G>A (n.61-6249G>A)
c.442-6249G>A (n.442-6249G>A)
gnomAD v4
2g.233760785G>CCA431960467UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6249G>C (n.856-6249G>C)
c.868-6249G>C (n.868-6249G>C)
c.862-6249G>C (n.862-6249G>C)
c.498G>C (p.Leu166=)
c.61-6249G>C (n.61-6249G>C)
c.442-6249G>C (n.442-6249G>C)
2g.233760785G>TCA431960469UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6249G>T (n.856-6249G>T)
c.868-6249G>T (n.868-6249G>T)
c.862-6249G>T (n.862-6249G>T)
c.498G>T (p.Leu166=)
c.61-6249G>T (n.61-6249G>T)
c.442-6249G>T (n.442-6249G>T)
2g.233760786C>ACA351066855UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6248C>A (n.856-6248C>A)
c.868-6248C>A (n.868-6248C>A)
c.862-6248C>A (n.862-6248C>A)
c.499C>A (p.Pro167Thr)
c.61-6248C>A (n.61-6248C>A)
c.442-6248C>A (n.442-6248C>A)
2g.233760786C>GCA351066856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6248C>G (n.856-6248C>G)
c.868-6248C>G (n.868-6248C>G)
c.862-6248C>G (n.862-6248C>G)
c.499C>G (p.Pro167Ala)
c.61-6248C>G (n.61-6248C>G)
c.442-6248C>G (n.442-6248C>G)
2g.233760786C>TCA351066858UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6248C>T (n.856-6248C>T)
c.868-6248C>T (n.868-6248C>T)
c.862-6248C>T (n.862-6248C>T)
c.499C>T (p.Pro167Ser)
c.61-6248C>T (n.61-6248C>T)
c.442-6248C>T (n.442-6248C>T)
2g.233760787C>ACA351066863UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6247C>A (n.856-6247C>A)
c.868-6247C>A (n.868-6247C>A)
c.862-6247C>A (n.862-6247C>A)
c.500C>A (p.Pro167His)
c.61-6247C>A (n.61-6247C>A)
c.442-6247C>A (n.442-6247C>A)
2g.233760787C>GCA351066861UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6247C>G (n.856-6247C>G)
c.868-6247C>G (n.868-6247C>G)
c.862-6247C>G (n.862-6247C>G)
c.500C>G (p.Pro167Arg)
c.61-6247C>G (n.61-6247C>G)
c.442-6247C>G (n.442-6247C>G)
2g.233760787C>TCA351066860UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6247C>T (n.856-6247C>T)
c.868-6247C>T (n.868-6247C>T)
c.862-6247C>T (n.862-6247C>T)
c.500C>T (p.Pro167Leu)
c.61-6247C>T (n.61-6247C>T)
c.442-6247C>T (n.442-6247C>T)
COSMIC COSMIC
2g.233760788C>ACA431960471UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6246C>A (n.856-6246C>A)
c.868-6246C>A (n.868-6246C>A)
c.862-6246C>A (n.862-6246C>A)
c.501C>A (p.Pro167=)
c.61-6246C>A (n.61-6246C>A)
c.442-6246C>A (n.442-6246C>A)
2g.233760788C>GCA431960470UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6246C>G (n.856-6246C>G)
c.868-6246C>G (n.868-6246C>G)
c.862-6246C>G (n.862-6246C>G)
c.501C>G (p.Pro167=)
c.61-6246C>G (n.61-6246C>G)
c.442-6246C>G (n.442-6246C>G)
2g.233760788C>TCA431960472UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6246C>T (n.856-6246C>T)
c.868-6246C>T (n.868-6246C>T)
c.862-6246C>T (n.862-6246C>T)
c.501C>T (p.Pro167=)
c.61-6246C>T (n.61-6246C>T)
c.442-6246C>T (n.442-6246C>T)
2g.233760789A=CA1335889458UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6245A= (n.856-6245A=)
c.868-6245A= (n.868-6245A=)
c.862-6245A= (n.862-6245A=)
c.502A= (p.Thr168=)
c.61-6245A= (n.61-6245A=)
c.442-6245A= (n.442-6245A=)
2g.233760789A>CCA351066865UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6245A>C (n.856-6245A>C)
c.868-6245A>C (n.868-6245A>C)
c.862-6245A>C (n.862-6245A>C)
c.502A>C (p.Thr168Pro)
c.61-6245A>C (n.61-6245A>C)
c.442-6245A>C (n.442-6245A>C)

Number of alleles fetched