| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) | |
| 2 | g.233767093A>C | CA431855712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233767093A>G | CA431855709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233767093A>T | CA431855711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233767094T>A | CA351071924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233767094T>C | CA351071926 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233767094T>G | CA351071929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233767095C>A | CA351071932 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233767095C= | CA1335894720 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.917C= (p.Ser306=) c.929C= (p.Ser310=) c.923C= (p.Ser308=) c.926C= (p.Ser309=) c.122C= (p.Ser41=) c.503C= (n.503C=) | |
| 2 | g.233767095C>G | CA351071934 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233767095C>T | CA351071937 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233767096A>C | CA431855735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233767096A>G | CA431855745 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.918A>G (p.Ser306=) c.930A>G (p.Ser310=) c.924A>G (p.Ser308=) c.927A>G (p.Ser309=) c.123A>G (p.Ser41=) c.504A>G (n.504A>G) | |
| 2 | g.233767096A>T | CA431855748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.918A>T (p.Ser306=) c.930A>T (p.Ser310=) c.924A>T (p.Ser308=) c.927A>T (p.Ser309=) c.123A>T (p.Ser41=) c.504A>T (n.504A>T) | |
| 2 | g.233767097A= | CA1335894721 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.919A= (p.Met307=) c.931A= (p.Met311=) c.925A= (p.Met309=) c.928A= (p.Met310=) c.124A= (p.Met42=) c.505A= (n.505A=) | |
| 2 | g.233767097A>C | CA351071946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.919A>C (p.Met307Leu) c.931A>C (p.Met311Leu) c.925A>C (p.Met309Leu) c.928A>C (p.Met310Leu) c.124A>C (p.Met42Leu) c.505A>C (n.505A>C) | |
| 2 | g.233767097A>G | CA351071949 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.919A>G (p.Met307Val) c.931A>G (p.Met311Val) c.925A>G (p.Met309Val) c.928A>G (p.Met310Val) c.124A>G (p.Met42Val) c.505A>G (n.505A>G) | dbSNP gnomAD v4 |
| 2 | g.233767097A>T | CA351071952 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.919A>T (p.Met307Leu) c.931A>T (p.Met311Leu) c.925A>T (p.Met309Leu) c.928A>T (p.Met310Leu) c.124A>T (p.Met42Leu) c.505A>T (n.505A>T) | |
| 2 | g.233767098T>A | CA351071956 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.920T>A (p.Met307Lys) c.932T>A (p.Met311Lys) c.926T>A (p.Met309Lys) c.929T>A (p.Met310Lys) c.125T>A (p.Met42Lys) c.506T>A (n.506T>A) | |
| 2 | g.233767098T>C | CA351071958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.920T>C (p.Met307Thr) c.932T>C (p.Met311Thr) c.926T>C (p.Met309Thr) c.929T>C (p.Met310Thr) c.125T>C (p.Met42Thr) c.506T>C (n.506T>C) | gnomAD v4 |
| 2 | g.233767098T>G | CA351071961 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.920T>G (p.Met307Arg) c.932T>G (p.Met311Arg) c.926T>G (p.Met309Arg) c.929T>G (p.Met310Arg) c.125T>G (p.Met42Arg) c.506T>G (n.506T>G) | dbSNP |
| 2 | g.233767098T= | CA1335894722 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.920T= (p.Met307=) c.932T= (p.Met311=) c.926T= (p.Met309=) c.929T= (p.Met310=) c.125T= (p.Met42=) c.506T= (n.506T=) | |
| 2 | g.233767099G>A | CA351071963 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.921G>A (p.Met307Ile) c.933G>A (p.Met311Ile) c.927G>A (p.Met309Ile) c.930G>A (p.Met310Ile) c.126G>A (p.Met42Ile) c.507G>A (n.507G>A) | |
| 2 | g.233767099G>C | CA351071976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.921G>C (p.Met307Ile) c.933G>C (p.Met311Ile) c.927G>C (p.Met309Ile) c.930G>C (p.Met310Ile) c.126G>C (p.Met42Ile) c.507G>C (n.507G>C) | |
| 2 | g.233767099G>T | CA351071975 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.921G>T (p.Met307Ile) c.933G>T (p.Met311Ile) c.927G>T (p.Met309Ile) c.930G>T (p.Met310Ile) c.126G>T (p.Met42Ile) c.507G>T (n.507G>T) | |
| 2 | g.233767100del | CA2499215799 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.922del (p.Val308SerfsTer?) c.934del (p.Val312SerfsTer?) c.928del (p.Val310SerfsTer?) c.931del (p.Val311SerfsTer?) c.127del (p.Val43SerfsTer?) c.508del (n.508del) | dbSNP |
| 2 | g.233767100G>A | CA351071977 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.922G>A (p.Val308Ile) c.934G>A (p.Val312Ile) c.928G>A (p.Val310Ile) c.931G>A (p.Val311Ile) c.127G>A (p.Val43Ile) c.508G>A (n.508G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767100G>C | CA351071978 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.922G>C (p.Val308Leu) c.934G>C (p.Val312Leu) c.928G>C (p.Val310Leu) c.931G>C (p.Val311Leu) c.127G>C (p.Val43Leu) c.508G>C (n.508G>C) | |
| 2 | g.233767100G>T | CA351071979 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.922G>T (p.Val308Phe) c.934G>T (p.Val312Phe) c.928G>T (p.Val310Phe) c.931G>T (p.Val311Phe) c.127G>T (p.Val43Phe) c.508G>T (n.508G>T) | |
| 2 | g.233767101T>A | CA351071981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.923T>A (p.Val308Asp) c.935T>A (p.Val312Asp) c.929T>A (p.Val310Asp) c.932T>A (p.Val311Asp) c.128T>A (p.Val43Asp) c.509T>A (n.509T>A) | |
| 2 | g.233767101T>C | CA351071984 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.923T>C (p.Val308Ala) c.935T>C (p.Val312Ala) c.929T>C (p.Val310Ala) c.932T>C (p.Val311Ala) c.128T>C (p.Val43Ala) c.509T>C (n.509T>C) | gnomAD v4 |
| 2 | g.233767101T>G | CA351071986 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.923T>G (p.Val308Gly) c.935T>G (p.Val312Gly) c.929T>G (p.Val310Gly) c.932T>G (p.Val311Gly) c.128T>G (p.Val43Gly) c.509T>G (n.509T>G) | |
| 2 | g.233767103_233767104del | CA2663716610 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.925_926del (p.Ser309ArgfsTer12) c.937_938del (p.Ser313ArgfsTer12) c.931_932del (p.Ser311ArgfsTer12) c.934_935del (p.Ser312ArgfsTer12) c.130_131del (p.Ser44ArgfsTer12) c.511_512del (n.511_512del) | gnomAD v4 |
| 2 | g.233767102C>A | CA431855805 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.924C>A (p.Val308=) c.936C>A (p.Val312=) c.930C>A (p.Val310=) c.933C>A (p.Val311=) c.129C>A (p.Val43=) c.510C>A (n.510C>A) | dbSNP |
| 2 | g.233767102C= | CA1335894723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.924C= (p.Val308=) c.936C= (p.Val312=) c.930C= (p.Val310=) c.933C= (p.Val311=) c.129C= (p.Val43=) c.510C= (n.510C=) | |
| 2 | g.233767102C>G | CA431855802 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.924C>G (p.Val308=) c.936C>G (p.Val312=) c.930C>G (p.Val310=) c.933C>G (p.Val311=) c.129C>G (p.Val43=) c.510C>G (n.510C>G) | |
| 2 | g.233767102C>T | CA431855809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.924C>T (p.Val308=) c.936C>T (p.Val312=) c.930C>T (p.Val310=) c.933C>T (p.Val311=) c.129C>T (p.Val43=) c.510C>T (n.510C>T) | gnomAD v4 |
| 2 | g.233767103T>A | CA351071996 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.925T>A (p.Ser309Thr) c.937T>A (p.Ser313Thr) c.931T>A (p.Ser311Thr) c.934T>A (p.Ser312Thr) c.130T>A (p.Ser44Thr) c.511T>A (n.511T>A) | |
| 2 | g.233767103T>C | CA351071994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.925T>C (p.Ser309Pro) c.937T>C (p.Ser313Pro) c.931T>C (p.Ser311Pro) c.934T>C (p.Ser312Pro) c.130T>C (p.Ser44Pro) c.511T>C (n.511T>C) | |
| 2 | g.233767103T>G | CA351071989 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.925T>G (p.Ser309Ala) c.937T>G (p.Ser313Ala) c.931T>G (p.Ser311Ala) c.934T>G (p.Ser312Ala) c.130T>G (p.Ser44Ala) c.511T>G (n.511T>G) | gnomAD v4 |
| 2 | g.233767104C>A | CA351071998 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.926C>A (p.Ser309Ter) c.938C>A (p.Ser313Ter) c.932C>A (p.Ser311Ter) c.935C>A (p.Ser312Ter) c.131C>A (p.Ser44Ter) c.512C>A (n.512C>A) | |
| 2 | g.233767104C= | CA1335894724 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.926C= (p.Ser309=) c.938C= (p.Ser313=) c.932C= (p.Ser311=) c.935C= (p.Ser312=) c.131C= (p.Ser44=) c.512C= (n.512C=) | |
| 2 | g.233767104C>G | CA351072000 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.926C>G (p.Ser309Ter) c.938C>G (p.Ser313Ter) c.932C>G (p.Ser311Ter) c.935C>G (p.Ser312Ter) c.131C>G (p.Ser44Ter) c.512C>G (n.512C>G) | |
| 2 | g.233767104C>T | CA351072003 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.926C>T (p.Ser309Leu) c.938C>T (p.Ser313Leu) c.932C>T (p.Ser311Leu) c.935C>T (p.Ser312Leu) c.131C>T (p.Ser44Leu) c.512C>T (n.512C>T) | dbSNP gnomAD v4 |
| 2 | g.233767105A>C | CA431855827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.927A>C (p.Ser309=) c.939A>C (p.Ser313=) c.933A>C (p.Ser311=) c.936A>C (p.Ser312=) c.132A>C (p.Ser44=) c.513A>C (n.513A>C) | |
| 2 | g.233767105A>G | CA431855833 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.927A>G (p.Ser309=) c.939A>G (p.Ser313=) c.933A>G (p.Ser311=) c.936A>G (p.Ser312=) c.132A>G (p.Ser44=) c.513A>G (n.513A>G) | |
| 2 | g.233767105A>T | CA431855830 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.927A>T (p.Ser309=) c.939A>T (p.Ser313=) c.933A>T (p.Ser311=) c.936A>T (p.Ser312=) c.132A>T (p.Ser44=) c.513A>T (n.513A>T) |