Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | ClinVar 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) | |
2 | g.233767106G>A | CA351072008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.928G>A (p.Glu310Lys) c.940G>A (p.Glu314Lys) c.934G>A (p.Glu312Lys) c.937G>A (p.Glu313Lys) c.133G>A (p.Glu45Lys) c.514G>A (n.514G>A) | |
2 | g.233767106G>C | CA351072010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.928G>C (p.Glu310Gln) c.940G>C (p.Glu314Gln) c.934G>C (p.Glu312Gln) c.937G>C (p.Glu313Gln) c.133G>C (p.Glu45Gln) c.514G>C (n.514G>C) | |
2 | g.233767106G>T | CA351072016 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.928G>T (p.Glu310Ter) c.940G>T (p.Glu314Ter) c.934G>T (p.Glu312Ter) c.937G>T (p.Glu313Ter) c.133G>T (p.Glu45Ter) c.514G>T (n.514G>T) | |
2 | g.233767107A>C | CA351072020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.929A>C (p.Glu310Ala) c.941A>C (p.Glu314Ala) c.935A>C (p.Glu312Ala) c.938A>C (p.Glu313Ala) c.134A>C (p.Glu45Ala) c.515A>C (n.515A>C) | |
2 | g.233767107A>G | CA351072028 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.929A>G (p.Glu310Gly) c.941A>G (p.Glu314Gly) c.935A>G (p.Glu312Gly) c.938A>G (p.Glu313Gly) c.134A>G (p.Glu45Gly) c.515A>G (n.515A>G) | |
2 | g.233767107A>T | CA351072026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.929A>T (p.Glu310Val) c.941A>T (p.Glu314Val) c.935A>T (p.Glu312Val) c.938A>T (p.Glu313Val) c.134A>T (p.Glu45Val) c.515A>T (n.515A>T) | |
2 | g.233767108A>C | CA351072030 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.930A>C (p.Glu310Asp) c.942A>C (p.Glu314Asp) c.936A>C (p.Glu312Asp) c.939A>C (p.Glu313Asp) c.135A>C (p.Glu45Asp) c.516A>C (n.516A>C) | |
2 | g.233767108A>G | CA431855856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.930A>G (p.Glu310=) c.942A>G (p.Glu314=) c.936A>G (p.Glu312=) c.939A>G (p.Glu313=) c.135A>G (p.Glu45=) c.516A>G (n.516A>G) | |
2 | g.233767108A>T | CA351072031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.930A>T (p.Glu310Asp) c.942A>T (p.Glu314Asp) c.936A>T (p.Glu312Asp) c.939A>T (p.Glu313Asp) c.135A>T (p.Glu45Asp) c.516A>T (n.516A>T) | gnomAD v4 |
2 | g.233767109A= | CA1335894725 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.931A= (p.Ile311=) c.943A= (p.Ile315=) c.937A= (p.Ile313=) c.940A= (p.Ile314=) c.136A= (p.Ile46=) c.517A= (n.517A=) | |
2 | g.233767109A>C | CA351072035 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.931A>C (p.Ile311Leu) c.943A>C (p.Ile315Leu) c.937A>C (p.Ile313Leu) c.940A>C (p.Ile314Leu) c.136A>C (p.Ile46Leu) c.517A>C (n.517A>C) | dbSNP |
2 | g.233767109A>G | CA351072039 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.931A>G (p.Ile311Val) c.943A>G (p.Ile315Val) c.937A>G (p.Ile313Val) c.940A>G (p.Ile314Val) c.136A>G (p.Ile46Val) c.517A>G (n.517A>G) | dbSNP |
2 | g.233767109A>T | CA351072041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.931A>T (p.Ile311Phe) c.943A>T (p.Ile315Phe) c.937A>T (p.Ile313Phe) c.940A>T (p.Ile314Phe) c.136A>T (p.Ile46Phe) c.517A>T (n.517A>T) | |
2 | g.233767110T>A | CA351072051 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.932T>A (p.Ile311Asn) c.944T>A (p.Ile315Asn) c.938T>A (p.Ile313Asn) c.941T>A (p.Ile314Asn) c.137T>A (p.Ile46Asn) c.518T>A (n.518T>A) | |
2 | g.233767110T>C | CA351072053 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.932T>C (p.Ile311Thr) c.944T>C (p.Ile315Thr) c.938T>C (p.Ile313Thr) c.941T>C (p.Ile314Thr) c.137T>C (p.Ile46Thr) c.518T>C (n.518T>C) | |
2 | g.233767110T>G | CA351072056 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.932T>G (p.Ile311Ser) c.944T>G (p.Ile315Ser) c.938T>G (p.Ile313Ser) c.941T>G (p.Ile314Ser) c.137T>G (p.Ile46Ser) c.518T>G (n.518T>G) | |
2 | g.233767111T>A | CA431855881 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.933T>A (p.Ile311=) c.945T>A (p.Ile315=) c.939T>A (p.Ile313=) c.942T>A (p.Ile314=) c.138T>A (p.Ile46=) c.519T>A (n.519T>A) | |
2 | g.233767111T>C | CA431855885 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.933T>C (p.Ile311=) c.945T>C (p.Ile315=) c.939T>C (p.Ile313=) c.942T>C (p.Ile314=) c.138T>C (p.Ile46=) c.519T>C (n.519T>C) | |
2 | g.233767111T>G | CA351072059 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.933T>G (p.Ile311Met) c.945T>G (p.Ile315Met) c.939T>G (p.Ile313Met) c.942T>G (p.Ile314Met) c.138T>G (p.Ile46Met) c.519T>G (n.519T>G) | |
2 | g.233767112C>A | CA351072061 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.934C>A (p.Pro312Thr) c.946C>A (p.Pro316Thr) c.940C>A (p.Pro314Thr) c.943C>A (p.Pro315Thr) c.139C>A (p.Pro47Thr) c.520C>A (n.520C>A) | dbSNP |
2 | g.233767112C= | CA1335894726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.934C= (p.Pro312=) c.946C= (p.Pro316=) c.940C= (p.Pro314=) c.943C= (p.Pro315=) c.139C= (p.Pro47=) c.520C= (n.520C=) | |
2 | g.233767112C>G | CA351072063 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.934C>G (p.Pro312Ala) c.946C>G (p.Pro316Ala) c.940C>G (p.Pro314Ala) c.943C>G (p.Pro315Ala) c.139C>G (p.Pro47Ala) c.520C>G (n.520C>G) | gnomAD v4 |
2 | g.233767112C>T | CA2179928 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.934C>T (p.Pro312Ser) c.946C>T (p.Pro316Ser) c.940C>T (p.Pro314Ser) c.943C>T (p.Pro315Ser) c.139C>T (p.Pro47Ser) c.520C>T (n.520C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233767113C>A | CA351072070 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.935C>A (p.Pro312Gln) c.947C>A (p.Pro316Gln) c.941C>A (p.Pro314Gln) c.944C>A (p.Pro315Gln) c.140C>A (p.Pro47Gln) c.521C>A (n.521C>A) | |
2 | g.233767113C>G | CA351072075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.935C>G (p.Pro312Arg) c.947C>G (p.Pro316Arg) c.941C>G (p.Pro314Arg) c.944C>G (p.Pro315Arg) c.140C>G (p.Pro47Arg) c.521C>G (n.521C>G) | |
2 | g.233767113C>T | CA351072073 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.935C>T (p.Pro312Leu) c.947C>T (p.Pro316Leu) c.941C>T (p.Pro314Leu) c.944C>T (p.Pro315Leu) c.140C>T (p.Pro47Leu) c.521C>T (n.521C>T) | |
2 | g.233767114A>C | CA431855899 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.936A>C (p.Pro312=) c.948A>C (p.Pro316=) c.942A>C (p.Pro314=) c.945A>C (p.Pro315=) c.141A>C (p.Pro47=) c.522A>C (n.522A>C) | |
2 | g.233767114A>G | CA431855906 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.936A>G (p.Pro312=) c.948A>G (p.Pro316=) c.942A>G (p.Pro314=) c.945A>G (p.Pro315=) c.141A>G (p.Pro47=) c.522A>G (n.522A>G) | |
2 | g.233767114A>T | CA431855902 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.936A>T (p.Pro312=) c.948A>T (p.Pro316=) c.942A>T (p.Pro314=) c.945A>T (p.Pro315=) c.141A>T (p.Pro47=) c.522A>T (n.522A>T) | |
2 | g.233767115G>A | CA351072077 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.937G>A (p.Glu313Lys) c.949G>A (p.Glu317Lys) c.943G>A (p.Glu315Lys) c.946G>A (p.Glu316Lys) c.142G>A (p.Glu48Lys) c.523G>A (n.523G>A) | |
2 | g.233767115G>C | CA351072080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.937G>C (p.Glu313Gln) c.949G>C (p.Glu317Gln) c.943G>C (p.Glu315Gln) c.946G>C (p.Glu316Gln) c.142G>C (p.Glu48Gln) c.523G>C (n.523G>C) | |
2 | g.233767115G>T | CA351072082 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.937G>T (p.Glu313Ter) c.949G>T (p.Glu317Ter) c.943G>T (p.Glu315Ter) c.946G>T (p.Glu316Ter) c.142G>T (p.Glu48Ter) c.523G>T (n.523G>T) |