Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233767078G>ACA431855565UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.900G>A (p.Val300=)
c.912G>A (p.Val304=)
c.906G>A (p.Val302=)
c.909G>A (p.Val303=)
c.105G>A (p.Val35=)
c.486G>A (n.486G>A)
2g.233767078G>CCA431855588UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.900G>C (p.Val300=)
c.912G>C (p.Val304=)
c.906G>C (p.Val302=)
c.909G>C (p.Val303=)
c.105G>C (p.Val35=)
c.486G>C (n.486G>C)
2g.233767078G>TCA431855584UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.900G>T (p.Val300=)
c.912G>T (p.Val304=)
c.906G>T (p.Val302=)
c.909G>T (p.Val303=)
c.105G>T (p.Val35=)
c.486G>T (n.486G>T)
2g.233767079G>ACA351071851UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G>A (p.Val301Ile)
c.913G>A (p.Val305Ile)
c.907G>A (p.Val303Ile)
c.910G>A (p.Val304Ile)
c.106G>A (p.Val36Ile)
c.487G>A (n.487G>A)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767079G>CCA351071853UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G>C (p.Val301Leu)
c.913G>C (p.Val305Leu)
c.907G>C (p.Val303Leu)
c.910G>C (p.Val304Leu)
c.106G>C (p.Val36Leu)
c.487G>C (n.487G>C)
 dbSNP
2g.233767079G=CA1335894715UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G= (p.Val301=)
c.913G= (p.Val305=)
c.907G= (p.Val303=)
c.910G= (p.Val304=)
c.106G= (p.Val36=)
c.487G= (n.487G=)
2g.233767079G>TCA351071856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G>T (p.Val301Phe)
c.913G>T (p.Val305Phe)
c.907G>T (p.Val303Phe)
c.910G>T (p.Val304Phe)
c.106G>T (p.Val36Phe)
c.487G>T (n.487G>T)
2g.233767080T>ACA351071860UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T>A (p.Val301Asp)
c.914T>A (p.Val305Asp)
c.908T>A (p.Val303Asp)
c.911T>A (p.Val304Asp)
c.107T>A (p.Val36Asp)
c.488T>A (n.488T>A)
2g.233767080T>CCA2179926UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T>C (p.Val301Ala)
c.914T>C (p.Val305Ala)
c.908T>C (p.Val303Ala)
c.911T>C (p.Val304Ala)
c.107T>C (p.Val36Ala)
c.488T>C (n.488T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767080T>GCA351071863UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T>G (p.Val301Gly)
c.914T>G (p.Val305Gly)
c.908T>G (p.Val303Gly)
c.911T>G (p.Val304Gly)
c.107T>G (p.Val36Gly)
c.488T>G (n.488T>G)
2g.233767080T=CA1335894716UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T= (p.Val301=)
c.914T= (p.Val305=)
c.908T= (p.Val303=)
c.911T= (p.Val304=)
c.107T= (p.Val36=)
c.488T= (n.488T=)
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.233767081T>ACA431855617UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.903T>A (p.Val301=)
c.915T>A (p.Val305=)
c.909T>A (p.Val303=)
c.912T>A (p.Val304=)
c.108T>A (p.Val36=)
c.489T>A (n.489T>A)
2g.233767081T>CCA431855618UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.903T>C (p.Val301=)
c.915T>C (p.Val305=)
c.909T>C (p.Val303=)
c.912T>C (p.Val304=)
c.108T>C (p.Val36=)
c.489T>C (n.489T>C)
2g.233767081T>GCA431855615UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.903T>G (p.Val301=)
c.915T>G (p.Val305=)
c.909T>G (p.Val303=)
c.912T>G (p.Val304=)
c.108T>G (p.Val36=)
c.489T>G (n.489T>G)
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

Number of alleles fetched