Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233767079G>A | CA351071851 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767079G>C | CA351071853 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767079G= | CA1335894715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.901G= (p.Val301=) c.913G= (p.Val305=) c.907G= (p.Val303=) c.910G= (p.Val304=) c.106G= (p.Val36=) c.487G= (n.487G=) | |
2 | g.233767079G>T | CA351071856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767080T>A | CA351071860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767080T>C | CA2179926 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767080T>G | CA351071863 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767080T= | CA1335894716 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.902T= (p.Val301=) c.914T= (p.Val305=) c.908T= (p.Val303=) c.911T= (p.Val304=) c.107T= (p.Val36=) c.488T= (n.488T=) | |
2 | g.233767083del | CA2577284405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.905del (p.Phe302SerfsTer?) c.917del (p.Phe306SerfsTer?) c.911del (p.Phe304SerfsTer?) c.914del (p.Phe305SerfsTer?) c.110del (p.Phe37SerfsTer?) c.491del (n.491del) | |
2 | g.233767081T>A | CA431855617 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767081T>C | CA431855618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767081T>G | CA431855615 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767084_233767089del | CA645531509 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767082T>A | CA351071867 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767082T>C | CA351071865 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767082T>G | CA351071866 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767083T>A | CA351071869 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767083T>C | CA351071872 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767083T>G | CA351071874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767086_233767087del | CA2663716590 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767084C>A | CA351071877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767084C>G | CA351071880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767084C>T | CA431855653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767085T>A | CA351071883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767085T>C | CA351071886 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767085T>G | CA351071884 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767086C>A | CA351071887 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767086C= | CA1335894717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.908C= (p.Ser303=) c.920C= (p.Ser307=) c.914C= (p.Ser305=) c.917C= (p.Ser306=) c.113C= (p.Ser38=) c.494C= (n.494C=) | |
2 | g.233767086C>G | CA351071888 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767086C>T | CA351071889 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767087T>A | CA431855672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767087T>C | CA431855668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767087T>G | CA431855673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767088T>A | CA351071890 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767088T>C | CA431855674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767088T>G | CA351071891 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767089T>A | CA351071892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767089T>C | CA351071893 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767089T>G | CA351071895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767090G>A | CA431855682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767090G>C | CA351071896 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767090G>T | CA351071898 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767091G>A | CA2179927 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767091G>C | CA351071905 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767091G= | CA1335894718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.913G= (p.Gly305=) c.925G= (p.Gly309=) c.919G= (p.Gly307=) c.922G= (p.Gly308=) c.118G= (p.Gly40=) c.499G= (n.499G=) | |
2 | g.233767091G>T | CA351071909 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767092G>A | CA122054 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767092G>C | CA351071912 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767092G= | CA1335894719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.914G= (p.Gly305=) c.926G= (p.Gly309=) c.920G= (p.Gly307=) c.923G= (p.Gly308=) c.119G= (p.Gly40=) c.500G= (n.500G=) | |
2 | g.233767092G>T | CA351071916 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) |