Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233767083delCA2577284405UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905del (p.Phe302SerfsTer?)
c.917del (p.Phe306SerfsTer?)
c.911del (p.Phe304SerfsTer?)
c.914del (p.Phe305SerfsTer?)
c.110del (p.Phe37SerfsTer?)
c.491del (n.491del)
2g.233767084_233767089delCA645531509UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906_911del (p.Phe302_Ser303del)
c.918_923del (p.Phe306_Ser307del)
c.912_917del (p.Phe304_Ser305del)
c.915_920del (p.Phe305_Ser306del)
c.111_116del (p.Phe37_Ser38del)
c.492_497del (n.492_497del)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767082T>ACA351071867UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.904T>A (p.Phe302Ile)
c.916T>A (p.Phe306Ile)
c.910T>A (p.Phe304Ile)
c.913T>A (p.Phe305Ile)
c.109T>A (p.Phe37Ile)
c.490T>A (n.490T>A)
2g.233767082T>CCA351071865UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.904T>C (p.Phe302Leu)
c.916T>C (p.Phe306Leu)
c.910T>C (p.Phe304Leu)
c.913T>C (p.Phe305Leu)
c.109T>C (p.Phe37Leu)
c.490T>C (n.490T>C)
2g.233767082T>GCA351071866UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.904T>G (p.Phe302Val)
c.916T>G (p.Phe306Val)
c.910T>G (p.Phe304Val)
c.913T>G (p.Phe305Val)
c.109T>G (p.Phe37Val)
c.490T>G (n.490T>G)
2g.233767083T>ACA351071869UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905T>A (p.Phe302Tyr)
c.917T>A (p.Phe306Tyr)
c.911T>A (p.Phe304Tyr)
c.914T>A (p.Phe305Tyr)
c.110T>A (p.Phe37Tyr)
c.491T>A (n.491T>A)
2g.233767083T>CCA351071872UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905T>C (p.Phe302Ser)
c.917T>C (p.Phe306Ser)
c.911T>C (p.Phe304Ser)
c.914T>C (p.Phe305Ser)
c.110T>C (p.Phe37Ser)
c.491T>C (n.491T>C)
2g.233767083T>GCA351071874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905T>G (p.Phe302Cys)
c.917T>G (p.Phe306Cys)
c.911T>G (p.Phe304Cys)
c.914T>G (p.Phe305Cys)
c.110T>G (p.Phe37Cys)
c.491T>G (n.491T>G)
2g.233767086_233767087delCA2663716590UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908_909del (p.Ser303PhefsTer18)
c.920_921del (p.Ser307PhefsTer18)
c.914_915del (p.Ser305PhefsTer18)
c.917_918del (p.Ser306PhefsTer18)
c.113_114del (p.Ser38PhefsTer18)
c.494_495del (n.494_495del)
 gnomAD v4
2g.233767084C>ACA351071877UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906C>A (p.Phe302Leu)
c.918C>A (p.Phe306Leu)
c.912C>A (p.Phe304Leu)
c.915C>A (p.Phe305Leu)
c.111C>A (p.Phe37Leu)
c.492C>A (n.492C>A)
2g.233767084C>GCA351071880UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906C>G (p.Phe302Leu)
c.918C>G (p.Phe306Leu)
c.912C>G (p.Phe304Leu)
c.915C>G (p.Phe305Leu)
c.111C>G (p.Phe37Leu)
c.492C>G (n.492C>G)
 gnomAD v4
2g.233767084C>TCA431855653UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906C>T (p.Phe302=)
c.918C>T (p.Phe306=)
c.912C>T (p.Phe304=)
c.915C>T (p.Phe305=)
c.111C>T (p.Phe37=)
c.492C>T (n.492C>T)
2g.233767085T>ACA351071883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.907T>A (p.Ser303Thr)
c.919T>A (p.Ser307Thr)
c.913T>A (p.Ser305Thr)
c.916T>A (p.Ser306Thr)
c.112T>A (p.Ser38Thr)
c.493T>A (n.493T>A)
2g.233767085T>CCA351071886UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.907T>C (p.Ser303Pro)
c.919T>C (p.Ser307Pro)
c.913T>C (p.Ser305Pro)
c.916T>C (p.Ser306Pro)
c.112T>C (p.Ser38Pro)
c.493T>C (n.493T>C)
2g.233767085T>GCA351071884UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.907T>G (p.Ser303Ala)
c.919T>G (p.Ser307Ala)
c.913T>G (p.Ser305Ala)
c.916T>G (p.Ser306Ala)
c.112T>G (p.Ser38Ala)
c.493T>G (n.493T>G)
2g.233767086C>ACA351071887UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908C>A (p.Ser303Tyr)
c.920C>A (p.Ser307Tyr)
c.914C>A (p.Ser305Tyr)
c.917C>A (p.Ser306Tyr)
c.113C>A (p.Ser38Tyr)
c.494C>A (n.494C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767086C=CA1335894717UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908C= (p.Ser303=)
c.920C= (p.Ser307=)
c.914C= (p.Ser305=)
c.917C= (p.Ser306=)
c.113C= (p.Ser38=)
c.494C= (n.494C=)
2g.233767086C>GCA351071888UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908C>G (p.Ser303Cys)
c.920C>G (p.Ser307Cys)
c.914C>G (p.Ser305Cys)
c.917C>G (p.Ser306Cys)
c.113C>G (p.Ser38Cys)
c.494C>G (n.494C>G)
2g.233767086C>TCA351071889UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908C>T (p.Ser303Phe)
c.920C>T (p.Ser307Phe)
c.914C>T (p.Ser305Phe)
c.917C>T (p.Ser306Phe)
c.113C>T (p.Ser38Phe)
c.494C>T (n.494C>T)
 ClinVar dbSNP
2g.233767087T>ACA431855672UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.909T>A (p.Ser303=)
c.921T>A (p.Ser307=)
c.915T>A (p.Ser305=)
c.918T>A (p.Ser306=)
c.114T>A (p.Ser38=)
c.495T>A (n.495T>A)
 gnomAD v4
2g.233767087T>CCA431855668UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.909T>C (p.Ser303=)
c.921T>C (p.Ser307=)
c.915T>C (p.Ser305=)
c.918T>C (p.Ser306=)
c.114T>C (p.Ser38=)
c.495T>C (n.495T>C)
2g.233767087T>GCA431855673UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.909T>G (p.Ser303=)
c.921T>G (p.Ser307=)
c.915T>G (p.Ser305=)
c.918T>G (p.Ser306=)
c.114T>G (p.Ser38=)
c.495T>G (n.495T>G)
2g.233767088T>ACA351071890UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.910T>A (p.Leu304Met)
c.922T>A (p.Leu308Met)
c.916T>A (p.Leu306Met)
c.919T>A (p.Leu307Met)
c.115T>A (p.Leu39Met)
c.496T>A (n.496T>A)
2g.233767088T>CCA431855674UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.910T>C (p.Leu304=)
c.922T>C (p.Leu308=)
c.916T>C (p.Leu306=)
c.919T>C (p.Leu307=)
c.115T>C (p.Leu39=)
c.496T>C (n.496T>C)
2g.233767088T>GCA351071891UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.910T>G (p.Leu304Val)
c.922T>G (p.Leu308Val)
c.916T>G (p.Leu306Val)
c.919T>G (p.Leu307Val)
c.115T>G (p.Leu39Val)
c.496T>G (n.496T>G)
2g.233767089T>ACA351071892UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.911T>A (p.Leu304Ter)
c.923T>A (p.Leu308Ter)
c.917T>A (p.Leu306Ter)
c.920T>A (p.Leu307Ter)
c.116T>A (p.Leu39Ter)
c.497T>A (n.497T>A)
2g.233767089T>CCA351071893UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.911T>C (p.Leu304Ser)
c.923T>C (p.Leu308Ser)
c.917T>C (p.Leu306Ser)
c.920T>C (p.Leu307Ser)
c.116T>C (p.Leu39Ser)
c.497T>C (n.497T>C)
2g.233767089T>GCA351071895UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.911T>G (p.Leu304Trp)
c.923T>G (p.Leu308Trp)
c.917T>G (p.Leu306Trp)
c.920T>G (p.Leu307Trp)
c.116T>G (p.Leu39Trp)
c.497T>G (n.497T>G)
2g.233767090G>ACA431855682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.912G>A (p.Leu304=)
c.924G>A (p.Leu308=)
c.918G>A (p.Leu306=)
c.921G>A (p.Leu307=)
c.117G>A (p.Leu39=)
c.498G>A (n.498G>A)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767090G>CCA351071896UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.912G>C (p.Leu304Phe)
c.924G>C (p.Leu308Phe)
c.918G>C (p.Leu306Phe)
c.921G>C (p.Leu307Phe)
c.117G>C (p.Leu39Phe)
c.498G>C (n.498G>C)
2g.233767090G>TCA351071898UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.912G>T (p.Leu304Phe)
c.924G>T (p.Leu308Phe)
c.918G>T (p.Leu306Phe)
c.921G>T (p.Leu307Phe)
c.117G>T (p.Leu39Phe)
c.498G>T (n.498G>T)
2g.233767091G>ACA2179927UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.913G>A (p.Gly305Arg)
c.925G>A (p.Gly309Arg)
c.919G>A (p.Gly307Arg)
c.922G>A (p.Gly308Arg)
c.118G>A (p.Gly40Arg)
c.499G>A (n.499G>A)
 dbSNP ExAC gnomAD v2
2g.233767091G>CCA351071905UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.913G>C (p.Gly305Arg)
c.925G>C (p.Gly309Arg)
c.919G>C (p.Gly307Arg)
c.922G>C (p.Gly308Arg)
c.118G>C (p.Gly40Arg)
c.499G>C (n.499G>C)
2g.233767091G=CA1335894718UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.913G= (p.Gly305=)
c.925G= (p.Gly309=)
c.919G= (p.Gly307=)
c.922G= (p.Gly308=)
c.118G= (p.Gly40=)
c.499G= (n.499G=)
2g.233767091G>TCA351071909UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.913G>T (p.Gly305Ter)
c.925G>T (p.Gly309Ter)
c.919G>T (p.Gly307Ter)
c.922G>T (p.Gly308Ter)
c.118G>T (p.Gly40Ter)
c.499G>T (n.499G>T)
2g.233767092G>ACA122054UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.914G>A (p.Gly305Glu)
c.926G>A (p.Gly309Glu)
c.920G>A (p.Gly307Glu)
c.923G>A (p.Gly308Glu)
c.119G>A (p.Gly40Glu)
c.500G>A (n.500G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233767092G>CCA351071912UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.914G>C (p.Gly305Ala)
c.926G>C (p.Gly309Ala)
c.920G>C (p.Gly307Ala)
c.923G>C (p.Gly308Ala)
c.119G>C (p.Gly40Ala)
c.500G>C (n.500G>C)
2g.233767092G=CA1335894719UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.914G= (p.Gly305=)
c.926G= (p.Gly309=)
c.920G= (p.Gly307=)
c.923G= (p.Gly308=)
c.119G= (p.Gly40=)
c.500G= (n.500G=)
2g.233767092G>TCA351071916UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.914G>T (p.Gly305Val)
c.926G>T (p.Gly309Val)
c.920G>T (p.Gly307Val)
c.923G>T (p.Gly308Val)
c.119G>T (p.Gly40Val)
c.500G>T (n.500G>T)
2g.233767093A>CCA431855712UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.915A>C (p.Gly305=)
c.927A>C (p.Gly309=)
c.921A>C (p.Gly307=)
c.924A>C (p.Gly308=)
c.120A>C (p.Gly40=)
c.501A>C (n.501A>C)
2g.233767093A>GCA431855709UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.915A>G (p.Gly305=)
c.927A>G (p.Gly309=)
c.921A>G (p.Gly307=)
c.924A>G (p.Gly308=)
c.120A>G (p.Gly40=)
c.501A>G (n.501A>G)
2g.233767093A>TCA431855711UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.915A>T (p.Gly305=)
c.927A>T (p.Gly309=)
c.921A>T (p.Gly307=)
c.924A>T (p.Gly308=)
c.120A>T (p.Gly40=)
c.501A>T (n.501A>T)
2g.233767094T>ACA351071924UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.916T>A (p.Ser306Thr)
c.928T>A (p.Ser310Thr)
c.922T>A (p.Ser308Thr)
c.925T>A (p.Ser309Thr)
c.121T>A (p.Ser41Thr)
c.502T>A (n.502T>A)
 gnomAD v4
2g.233767094T>CCA351071926UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.916T>C (p.Ser306Pro)
c.928T>C (p.Ser310Pro)
c.922T>C (p.Ser308Pro)
c.925T>C (p.Ser309Pro)
c.121T>C (p.Ser41Pro)
c.502T>C (n.502T>C)
 gnomAD v4
2g.233767094T>GCA351071929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.916T>G (p.Ser306Ala)
c.928T>G (p.Ser310Ala)
c.922T>G (p.Ser308Ala)
c.925T>G (p.Ser309Ala)
c.121T>G (p.Ser41Ala)
c.502T>G (n.502T>G)
2g.233767095C>ACA351071932UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.917C>A (p.Ser306Ter)
c.929C>A (p.Ser310Ter)
c.923C>A (p.Ser308Ter)
c.926C>A (p.Ser309Ter)
c.122C>A (p.Ser41Ter)
c.503C>A (n.503C>A)
2g.233767095C=CA1335894720UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.917C= (p.Ser306=)
c.929C= (p.Ser310=)
c.923C= (p.Ser308=)
c.926C= (p.Ser309=)
c.122C= (p.Ser41=)
c.503C= (n.503C=)
2g.233767095C>GCA351071934UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.917C>G (p.Ser306Ter)
c.929C>G (p.Ser310Ter)
c.923C>G (p.Ser308Ter)
c.926C>G (p.Ser309Ter)
c.122C>G (p.Ser41Ter)
c.503C>G (n.503C>G)
2g.233767095C>TCA351071937UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.917C>T (p.Ser306Leu)
c.929C>T (p.Ser310Leu)
c.923C>T (p.Ser308Leu)
c.926C>T (p.Ser309Leu)
c.122C>T (p.Ser41Leu)
c.503C>T (n.503C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.233767096A>CCA431855735UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.918A>C (p.Ser306=)
c.930A>C (p.Ser310=)
c.924A>C (p.Ser308=)
c.927A>C (p.Ser309=)
c.123A>C (p.Ser41=)
c.504A>C (n.504A>C)

Number of alleles fetched