Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
2 | g.233767116A>C | CA351072086 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.938A>C (p.Glu313Ala) c.950A>C (p.Glu317Ala) c.944A>C (p.Glu315Ala) c.947A>C (p.Glu316Ala) c.143A>C (p.Glu48Ala) c.524A>C (n.524A>C) | |
2 | g.233767116A>G | CA351072087 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.938A>G (p.Glu313Gly) c.950A>G (p.Glu317Gly) c.944A>G (p.Glu315Gly) c.947A>G (p.Glu316Gly) c.143A>G (p.Glu48Gly) c.524A>G (n.524A>G) | |
2 | g.233767116A>T | CA351072089 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.938A>T (p.Glu313Val) c.950A>T (p.Glu317Val) c.944A>T (p.Glu315Val) c.947A>T (p.Glu316Val) c.143A>T (p.Glu48Val) c.524A>T (n.524A>T) | |
2 | g.233767117G>A | CA431855946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.939G>A (p.Glu313=) c.951G>A (p.Glu317=) c.945G>A (p.Glu315=) c.948G>A (p.Glu316=) c.144G>A (p.Glu48=) c.525G>A (n.525G>A) | |
2 | g.233767117G>C | CA351072092 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.939G>C (p.Glu313Asp) c.951G>C (p.Glu317Asp) c.945G>C (p.Glu315Asp) c.948G>C (p.Glu316Asp) c.144G>C (p.Glu48Asp) c.525G>C (n.525G>C) | |
2 | g.233767117G>T | CA351072094 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.939G>T (p.Glu313Asp) c.951G>T (p.Glu317Asp) c.945G>T (p.Glu315Asp) c.948G>T (p.Glu316Asp) c.144G>T (p.Glu48Asp) c.525G>T (n.525G>T) | |
2 | g.233767118A= | CA1335894727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.940A= (p.Lys314=) c.952A= (p.Lys318=) c.946A= (p.Lys316=) c.949A= (p.Lys317=) c.145A= (p.Lys49=) c.526A= (n.526A=) | |
2 | g.233767118A>C | CA351072097 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.940A>C (p.Lys314Gln) c.952A>C (p.Lys318Gln) c.946A>C (p.Lys316Gln) c.949A>C (p.Lys317Gln) c.145A>C (p.Lys49Gln) c.526A>C (n.526A>C) | |
2 | g.233767118A>G | CA67595127 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.940A>G (p.Lys314Glu) c.952A>G (p.Lys318Glu) c.946A>G (p.Lys316Glu) c.949A>G (p.Lys317Glu) c.145A>G (p.Lys49Glu) c.526A>G (n.526A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233767118A>T | CA351072104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.940A>T (p.Lys314Ter) c.952A>T (p.Lys318Ter) c.946A>T (p.Lys316Ter) c.949A>T (p.Lys317Ter) c.145A>T (p.Lys49Ter) c.526A>T (n.526A>T) | |
2 | g.233767119A>C | CA351072107 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.941A>C (p.Lys314Thr) c.953A>C (p.Lys318Thr) c.947A>C (p.Lys316Thr) c.950A>C (p.Lys317Thr) c.146A>C (p.Lys49Thr) c.527A>C (n.527A>C) | gnomAD v4 |
2 | g.233767119A>G | CA351072110 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.941A>G (p.Lys314Arg) c.953A>G (p.Lys318Arg) c.947A>G (p.Lys316Arg) c.950A>G (p.Lys317Arg) c.146A>G (p.Lys49Arg) c.527A>G (n.527A>G) | |
2 | g.233767119A>T | CA351072112 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.941A>T (p.Lys314Met) c.953A>T (p.Lys318Met) c.947A>T (p.Lys316Met) c.950A>T (p.Lys317Met) c.146A>T (p.Lys49Met) c.527A>T (n.527A>T) | |
2 | g.233767120G>A | CA431855973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.942G>A (p.Lys314=) c.954G>A (p.Lys318=) c.948G>A (p.Lys316=) c.951G>A (p.Lys317=) c.147G>A (p.Lys49=) c.528G>A (n.528G>A) | gnomAD v4 |
2 | g.233767120G>C | CA351072115 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.942G>C (p.Lys314Asn) c.954G>C (p.Lys318Asn) c.948G>C (p.Lys316Asn) c.951G>C (p.Lys317Asn) c.147G>C (p.Lys49Asn) c.528G>C (n.528G>C) | |
2 | g.233767120G>T | CA351072127 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.942G>T (p.Lys314Asn) c.954G>T (p.Lys318Asn) c.948G>T (p.Lys316Asn) c.951G>T (p.Lys317Asn) c.147G>T (p.Lys49Asn) c.528G>T (n.528G>T) | |
2 | g.233767121A>C | CA351072130 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.943A>C (p.Lys315Gln) c.955A>C (p.Lys319Gln) c.949A>C (p.Lys317Gln) c.952A>C (p.Lys318Gln) c.148A>C (p.Lys50Gln) c.529A>C (n.529A>C) | |
2 | g.233767121A>G | CA351072132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.943A>G (p.Lys315Glu) c.955A>G (p.Lys319Glu) c.949A>G (p.Lys317Glu) c.952A>G (p.Lys318Glu) c.148A>G (p.Lys50Glu) c.529A>G (n.529A>G) | |
2 | g.233767121A>T | CA351072134 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.943A>T (p.Lys315Ter) c.955A>T (p.Lys319Ter) c.949A>T (p.Lys317Ter) c.952A>T (p.Lys318Ter) c.148A>T (p.Lys50Ter) c.529A>T (n.529A>T) | |
2 | g.233767122A>C | CA351072137 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.944A>C (p.Lys315Thr) c.956A>C (p.Lys319Thr) c.950A>C (p.Lys317Thr) c.953A>C (p.Lys318Thr) c.149A>C (p.Lys50Thr) c.530A>C (n.530A>C) | |
2 | g.233767122A>G | CA351072140 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.944A>G (p.Lys315Arg) c.956A>G (p.Lys319Arg) c.950A>G (p.Lys317Arg) c.953A>G (p.Lys318Arg) c.149A>G (p.Lys50Arg) c.530A>G (n.530A>G) | |
2 | g.233767122A>T | CA351072143 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.944A>T (p.Lys315Ile) c.956A>T (p.Lys319Ile) c.950A>T (p.Lys317Ile) c.953A>T (p.Lys318Ile) c.149A>T (p.Lys50Ile) c.530A>T (n.530A>T) | |
2 | g.233767123A>C | CA351072145 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.945A>C (p.Lys315Asn) c.957A>C (p.Lys319Asn) c.951A>C (p.Lys317Asn) c.954A>C (p.Lys318Asn) c.150A>C (p.Lys50Asn) c.531A>C (n.531A>C) | |
2 | g.233767123A>G | CA431855994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.945A>G (p.Lys315=) c.957A>G (p.Lys319=) c.951A>G (p.Lys317=) c.954A>G (p.Lys318=) c.150A>G (p.Lys50=) c.531A>G (n.531A>G) | |
2 | g.233767123A>T | CA351072147 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.945A>T (p.Lys315Asn) c.957A>T (p.Lys319Asn) c.951A>T (p.Lys317Asn) c.954A>T (p.Lys318Asn) c.150A>T (p.Lys50Asn) c.531A>T (n.531A>T) | |
2 | g.233767124G>A | CA351072152 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.946G>A (p.Ala316Thr) c.958G>A (p.Ala320Thr) c.952G>A (p.Ala318Thr) c.955G>A (p.Ala319Thr) c.151G>A (p.Ala51Thr) c.532G>A (n.532G>A) | |
2 | g.233767124G>C | CA67595130 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.946G>C (p.Ala316Pro) c.958G>C (p.Ala320Pro) c.952G>C (p.Ala318Pro) c.955G>C (p.Ala319Pro) c.151G>C (p.Ala51Pro) c.532G>C (n.532G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233767124G= | CA1335894728 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.946G= (p.Ala316=) c.958G= (p.Ala320=) c.952G= (p.Ala318=) c.955G= (p.Ala319=) c.151G= (p.Ala51=) c.532G= (n.532G=) | |
2 | g.233767124G>T | CA351072156 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.946G>T (p.Ala316Ser) c.958G>T (p.Ala320Ser) c.952G>T (p.Ala318Ser) c.955G>T (p.Ala319Ser) c.151G>T (p.Ala51Ser) c.532G>T (n.532G>T) | |
2 | g.233767125C>A | CA351072160 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.947C>A (p.Ala316Asp) c.959C>A (p.Ala320Asp) c.953C>A (p.Ala318Asp) c.956C>A (p.Ala319Asp) c.152C>A (p.Ala51Asp) c.533C>A (n.533C>A) | |
2 | g.233767125C= | CA1335894729 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.947C= (p.Ala316=) c.959C= (p.Ala320=) c.953C= (p.Ala318=) c.956C= (p.Ala319=) c.152C= (p.Ala51=) c.533C= (n.533C=) | |
2 | g.233767125C>G | CA351072163 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.947C>G (p.Ala316Gly) c.959C>G (p.Ala320Gly) c.953C>G (p.Ala318Gly) c.956C>G (p.Ala319Gly) c.152C>G (p.Ala51Gly) c.533C>G (n.533C>G) | |
2 | g.233767125C>T | CA2179929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.947C>T (p.Ala316Val) c.959C>T (p.Ala320Val) c.953C>T (p.Ala318Val) c.956C>T (p.Ala319Val) c.152C>T (p.Ala51Val) c.533C>T (n.533C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233767126T>A | CA431856021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.948T>A (p.Ala316=) c.960T>A (p.Ala320=) c.954T>A (p.Ala318=) c.957T>A (p.Ala319=) c.153T>A (p.Ala51=) c.534T>A (n.534T>A) | |
2 | g.233767126T>C | CA431856026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.948T>C (p.Ala316=) c.960T>C (p.Ala320=) c.954T>C (p.Ala318=) c.957T>C (p.Ala319=) c.153T>C (p.Ala51=) c.534T>C (n.534T>C) | |
2 | g.233767126T>G | CA431856019 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.948T>G (p.Ala316=) c.960T>G (p.Ala320=) c.954T>G (p.Ala318=) c.957T>G (p.Ala319=) c.153T>G (p.Ala51=) c.534T>G (n.534T>G) | |
2 | g.233767127A= | CA1335894730 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.949A= (p.Met317=) c.961A= (p.Met321=) c.955A= (p.Met319=) c.958A= (p.Met320=) c.154A= (p.Met52=) c.535A= (n.535A=) | |
2 | g.233767127A>C | CA351072167 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.949A>C (p.Met317Leu) c.961A>C (p.Met321Leu) c.955A>C (p.Met319Leu) c.958A>C (p.Met320Leu) c.154A>C (p.Met52Leu) c.535A>C (n.535A>C) | |
2 | g.233767127A>G | CA2179930 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.949A>G (p.Met317Val) c.961A>G (p.Met321Val) c.955A>G (p.Met319Val) c.958A>G (p.Met320Val) c.154A>G (p.Met52Val) c.535A>G (n.535A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233767127A>T | CA351072169 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.949A>T (p.Met317Leu) c.961A>T (p.Met321Leu) c.955A>T (p.Met319Leu) c.958A>T (p.Met320Leu) c.154A>T (p.Met52Leu) c.535A>T (n.535A>T) | |
2 | g.233767128T>A | CA351072174 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.950T>A (p.Met317Lys) c.962T>A (p.Met321Lys) c.956T>A (p.Met319Lys) c.959T>A (p.Met320Lys) c.155T>A (p.Met52Lys) c.536T>A (n.536T>A) | |
2 | g.233767128T>C | CA351072179 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.950T>C (p.Met317Thr) c.962T>C (p.Met321Thr) c.956T>C (p.Met319Thr) c.959T>C (p.Met320Thr) c.155T>C (p.Met52Thr) c.536T>C (n.536T>C) | dbSNP gnomAD v4 |
2 | g.233767128T>G | CA351072176 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.950T>G (p.Met317Arg) c.962T>G (p.Met321Arg) c.956T>G (p.Met319Arg) c.959T>G (p.Met320Arg) c.155T>G (p.Met52Arg) c.536T>G (n.536T>G) | |
2 | g.233767128_233767129insA | CA2577284406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.950_951insA (p.Met317IlefsTer5) c.962_963insA (p.Met321IlefsTer5) c.956_957insA (p.Met319IlefsTer5) c.959_960insA (p.Met320IlefsTer5) c.155_156insA (p.Met52IlefsTer5) c.536_537insA (n.536_537insA) | |
2 | g.233767129G>A | CA351072182 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.951G>A (p.Met317Ile) c.963G>A (p.Met321Ile) c.957G>A (p.Met319Ile) c.960G>A (p.Met320Ile) c.156G>A (p.Met52Ile) c.537G>A (n.537G>A) | |
2 | g.233767129G>C | CA351072185 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.951G>C (p.Met317Ile) c.963G>C (p.Met321Ile) c.957G>C (p.Met319Ile) c.960G>C (p.Met320Ile) c.156G>C (p.Met52Ile) c.537G>C (n.537G>C) | |
2 | g.233767129G>T | CA351072186 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.951G>T (p.Met317Ile) c.963G>T (p.Met321Ile) c.957G>T (p.Met319Ile) c.960G>T (p.Met320Ile) c.156G>T (p.Met52Ile) c.537G>T (n.537G>T) | |
2 | g.233767130G>A | CA351072187 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.952G>A (p.Ala318Thr) c.964G>A (p.Ala322Thr) c.958G>A (p.Ala320Thr) c.961G>A (p.Ala321Thr) c.157G>A (p.Ala53Thr) c.538G>A (n.538G>A) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233767130G>C | CA351072188 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.952G>C (p.Ala318Pro) c.964G>C (p.Ala322Pro) c.958G>C (p.Ala320Pro) c.961G>C (p.Ala321Pro) c.157G>C (p.Ala53Pro) c.538G>C (n.538G>C) | |
2 | g.233767130G>T | CA351072189 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.952G>T (p.Ala318Ser) c.964G>T (p.Ala322Ser) c.958G>T (p.Ala320Ser) c.961G>T (p.Ala321Ser) c.157G>T (p.Ala53Ser) c.538G>T (n.538G>T) | |
2 | g.233767131C>A | CA351072191 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.953C>A (p.Ala318Glu) c.965C>A (p.Ala322Glu) c.959C>A (p.Ala320Glu) c.962C>A (p.Ala321Glu) c.158C>A (p.Ala53Glu) c.539C>A (n.539C>A) | |
2 | g.233767131C>G | CA351072194 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.953C>G (p.Ala318Gly) c.965C>G (p.Ala322Gly) c.959C>G (p.Ala320Gly) c.962C>G (p.Ala321Gly) c.158C>G (p.Ala53Gly) c.539C>G (n.539C>G) | |
2 | g.233767131C>T | CA351072205 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.953C>T (p.Ala318Val) c.965C>T (p.Ala322Val) c.959C>T (p.Ala320Val) c.962C>T (p.Ala321Val) c.158C>T (p.Ala53Val) c.539C>T (n.539C>T) | gnomAD v4 |
2 | g.233767132A>C | CA431856105 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.954A>C (p.Ala318=) c.966A>C (p.Ala322=) c.960A>C (p.Ala320=) c.963A>C (p.Ala321=) c.159A>C (p.Ala53=) c.540A>C (n.540A>C) | |
2 | g.233767132A>G | CA431856103 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.954A>G (p.Ala318=) c.966A>G (p.Ala322=) c.960A>G (p.Ala320=) c.963A>G (p.Ala321=) c.159A>G (p.Ala53=) c.540A>G (n.540A>G) | |
2 | g.233767132A>T | CA431856100 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.954A>T (p.Ala318=) c.966A>T (p.Ala322=) c.960A>T (p.Ala320=) c.963A>T (p.Ala321=) c.159A>T (p.Ala53=) c.540A>T (n.540A>T) | |
2 | g.233767133A= | CA1335894731 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.955A= (p.Ile319=) c.967A= (p.Ile323=) c.961A= (p.Ile321=) c.964A= (p.Ile322=) c.160A= (p.Ile54=) c.541A= (n.541A=) | |
2 | g.233767133A>C | CA351072208 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.955A>C (p.Ile319Leu) c.967A>C (p.Ile323Leu) c.961A>C (p.Ile321Leu) c.964A>C (p.Ile322Leu) c.160A>C (p.Ile54Leu) c.541A>C (n.541A>C) | |
2 | g.233767133A>G | CA2179931 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.955A>G (p.Ile319Val) c.967A>G (p.Ile323Val) c.961A>G (p.Ile321Val) c.964A>G (p.Ile322Val) c.160A>G (p.Ile54Val) c.541A>G (n.541A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233767133A>T | CA351072217 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.955A>T (p.Ile319Phe) c.967A>T (p.Ile323Phe) c.961A>T (p.Ile321Phe) c.964A>T (p.Ile322Phe) c.160A>T (p.Ile54Phe) c.541A>T (n.541A>T) | |
2 | g.233767134T>A | CA351072226 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.956T>A (p.Ile319Asn) c.968T>A (p.Ile323Asn) c.962T>A (p.Ile321Asn) c.965T>A (p.Ile322Asn) c.161T>A (p.Ile54Asn) c.542T>A (n.542T>A) | |
2 | g.233767134T>C | CA67595163 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.956T>C (p.Ile319Thr) c.968T>C (p.Ile323Thr) c.962T>C (p.Ile321Thr) c.965T>C (p.Ile322Thr) c.161T>C (p.Ile54Thr) c.542T>C (n.542T>C) | dbSNP |
2 | g.233767134T>G | CA351072222 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.956T>G (p.Ile319Ser) c.968T>G (p.Ile323Ser) c.962T>G (p.Ile321Ser) c.965T>G (p.Ile322Ser) c.161T>G (p.Ile54Ser) c.542T>G (n.542T>G) | |
2 | g.233767134T= | CA1335894732 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.956T= (p.Ile319=) c.968T= (p.Ile323=) c.962T= (p.Ile321=) c.965T= (p.Ile322=) c.161T= (p.Ile54=) c.542T= (n.542T=) | |
2 | g.233767135T>A | CA431856132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.957T>A (p.Ile319=) c.969T>A (p.Ile323=) c.963T>A (p.Ile321=) c.966T>A (p.Ile322=) c.162T>A (p.Ile54=) c.543T>A (n.543T>A) | |
2 | g.233767135T>C | CA431856153 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.957T>C (p.Ile319=) c.969T>C (p.Ile323=) c.963T>C (p.Ile321=) c.966T>C (p.Ile322=) c.162T>C (p.Ile54=) c.543T>C (n.543T>C) | |
2 | g.233767135T>G | CA351072227 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.957T>G (p.Ile319Met) c.969T>G (p.Ile323Met) c.963T>G (p.Ile321Met) c.966T>G (p.Ile322Met) c.162T>G (p.Ile54Met) c.543T>G (n.543T>G) | |
2 | g.233767136G>A | CA351072228 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.958G>A (p.Ala320Thr) c.970G>A (p.Ala324Thr) c.964G>A (p.Ala322Thr) c.967G>A (p.Ala323Thr) c.163G>A (p.Ala55Thr) c.544G>A (n.544G>A) | |
2 | g.233767136G>C | CA351072229 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.958G>C (p.Ala320Pro) c.970G>C (p.Ala324Pro) c.964G>C (p.Ala322Pro) c.967G>C (p.Ala323Pro) c.163G>C (p.Ala55Pro) c.544G>C (n.544G>C) | |
2 | g.233767136G= | CA1335894733 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.958G= (p.Ala320=) c.970G= (p.Ala324=) c.964G= (p.Ala322=) c.967G= (p.Ala323=) c.163G= (p.Ala55=) c.544G= (n.544G=) | |
2 | g.233767136G>T | CA2179932 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.958G>T (p.Ala320Ser) c.970G>T (p.Ala324Ser) c.964G>T (p.Ala322Ser) c.967G>T (p.Ala323Ser) c.163G>T (p.Ala55Ser) c.544G>T (n.544G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233767137C>A | CA351072231 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.959C>A (p.Ala320Asp) c.971C>A (p.Ala324Asp) c.965C>A (p.Ala322Asp) c.968C>A (p.Ala323Asp) c.164C>A (p.Ala55Asp) c.545C>A (n.545C>A) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233767137C= | CA1335894734 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.959C= (p.Ala320=) c.971C= (p.Ala324=) c.965C= (p.Ala322=) c.968C= (p.Ala323=) c.164C= (p.Ala55=) c.545C= (n.545C=) | |
2 | g.233767137C>G | CA351072234 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.959C>G (p.Ala320Gly) c.971C>G (p.Ala324Gly) c.965C>G (p.Ala322Gly) c.968C>G (p.Ala323Gly) c.164C>G (p.Ala55Gly) c.545C>G (n.545C>G) | |
2 | g.233767137C>T | CA2179933 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.959C>T (p.Ala320Val) c.971C>T (p.Ala324Val) c.965C>T (p.Ala322Val) c.968C>T (p.Ala323Val) c.164C>T (p.Ala55Val) c.545C>T (n.545C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233767138T>A | CA431856180 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.960T>A (p.Ala320=) c.972T>A (p.Ala324=) c.966T>A (p.Ala322=) c.969T>A (p.Ala323=) c.165T>A (p.Ala55=) c.546T>A (n.546T>A) | |
2 | g.233767138T>C | CA431856177 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.960T>C (p.Ala320=) c.972T>C (p.Ala324=) c.966T>C (p.Ala322=) c.969T>C (p.Ala323=) c.165T>C (p.Ala55=) c.546T>C (n.546T>C) | |
2 | g.233767138T>G | CA431856184 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.960T>G (p.Ala320=) c.972T>G (p.Ala324=) c.966T>G (p.Ala322=) c.969T>G (p.Ala323=) c.165T>G (p.Ala55=) c.546T>G (n.546T>G) | |
2 | g.233767139G>A | CA351072253 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.961G>A (p.Asp321Asn) c.973G>A (p.Asp325Asn) c.967G>A (p.Asp323Asn) c.970G>A (p.Asp324Asn) c.166G>A (p.Asp56Asn) c.547G>A (n.547G>A) | |
2 | g.233767139G>C | CA351072257 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.961G>C (p.Asp321His) c.973G>C (p.Asp325His) c.967G>C (p.Asp323His) c.970G>C (p.Asp324His) c.166G>C (p.Asp56His) c.547G>C (n.547G>C) | gnomAD v4 |
2 | g.233767139G>T | CA351072270 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.961G>T (p.Asp321Tyr) c.973G>T (p.Asp325Tyr) c.967G>T (p.Asp323Tyr) c.970G>T (p.Asp324Tyr) c.166G>T (p.Asp56Tyr) c.547G>T (n.547G>T) | |
2 | g.233767140A>C | CA351072282 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.962A>C (p.Asp321Ala) c.974A>C (p.Asp325Ala) c.968A>C (p.Asp323Ala) c.971A>C (p.Asp324Ala) c.167A>C (p.Asp56Ala) c.548A>C (n.548A>C) | |
2 | g.233767140A>G | CA351072278 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.962A>G (p.Asp321Gly) c.974A>G (p.Asp325Gly) c.968A>G (p.Asp323Gly) c.971A>G (p.Asp324Gly) c.167A>G (p.Asp56Gly) c.548A>G (n.548A>G) | |
2 | g.233767140A>T | CA351072274 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.962A>T (p.Asp321Val) c.974A>T (p.Asp325Val) c.968A>T (p.Asp323Val) c.971A>T (p.Asp324Val) c.167A>T (p.Asp56Val) c.548A>T (n.548A>T) | |
2 | g.233767141T>A | CA351072284 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.963T>A (p.Asp321Glu) c.975T>A (p.Asp325Glu) c.969T>A (p.Asp323Glu) c.972T>A (p.Asp324Glu) c.168T>A (p.Asp56Glu) c.549T>A (n.549T>A) | |
2 | g.233767141T>C | CA431856210 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.963T>C (p.Asp321=) c.975T>C (p.Asp325=) c.969T>C (p.Asp323=) c.972T>C (p.Asp324=) c.168T>C (p.Asp56=) c.549T>C (n.549T>C) | |
2 | g.233767141T>G | CA351072286 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.963T>G (p.Asp321Glu) c.975T>G (p.Asp325Glu) c.969T>G (p.Asp323Glu) c.972T>G (p.Asp324Glu) c.168T>G (p.Asp56Glu) c.549T>G (n.549T>G) | |
2 | g.233767142del | CA2586965616 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.964del (p.Ala322LeufsTer?) c.976del (p.Ala326LeufsTer?) c.970del (p.Ala324LeufsTer?) c.973del (p.Ala325LeufsTer?) c.169del (p.Ala57LeufsTer?) c.550del (n.550del) | |
2 | g.233767142G>A | CA351072288 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.964G>A (p.Ala322Thr) c.976G>A (p.Ala326Thr) c.970G>A (p.Ala324Thr) c.973G>A (p.Ala325Thr) c.169G>A (p.Ala57Thr) c.550G>A (n.550G>A) | dbSNP |
2 | g.233767142G>C | CA351072290 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.964G>C (p.Ala322Pro) c.976G>C (p.Ala326Pro) c.970G>C (p.Ala324Pro) c.973G>C (p.Ala325Pro) c.169G>C (p.Ala57Pro) c.550G>C (n.550G>C) | |
2 | g.233767142G= | CA1335894735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.964G= (p.Ala322=) c.976G= (p.Ala326=) c.970G= (p.Ala324=) c.973G= (p.Ala325=) c.169G= (p.Ala57=) c.550G= (n.550G=) | |
2 | g.233767142G>T | CA351072291 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.964G>T (p.Ala322Ser) c.976G>T (p.Ala326Ser) c.970G>T (p.Ala324Ser) c.973G>T (p.Ala325Ser) c.169G>T (p.Ala57Ser) c.550G>T (n.550G>T) | |
2 | g.233767143C>A | CA351072295 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.965C>A (p.Ala322Asp) c.977C>A (p.Ala326Asp) c.971C>A (p.Ala324Asp) c.974C>A (p.Ala325Asp) c.170C>A (p.Ala57Asp) c.551C>A (n.551C>A) | |
2 | g.233767143C>G | CA351072299 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.965C>G (p.Ala322Gly) c.977C>G (p.Ala326Gly) c.971C>G (p.Ala324Gly) c.974C>G (p.Ala325Gly) c.170C>G (p.Ala57Gly) c.551C>G (n.551C>G) | |
2 | g.233767143C>T | CA351072315 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.965C>T (p.Ala322Val) c.977C>T (p.Ala326Val) c.971C>T (p.Ala324Val) c.974C>T (p.Ala325Val) c.170C>T (p.Ala57Val) c.551C>T (n.551C>T) | |
2 | g.233767144T>A | CA431856239 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.966T>A (p.Ala322=) c.978T>A (p.Ala326=) c.972T>A (p.Ala324=) c.975T>A (p.Ala325=) c.171T>A (p.Ala57=) c.552T>A (n.552T>A) | |
2 | g.233767144T>C | CA431856240 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.966T>C (p.Ala322=) c.978T>C (p.Ala326=) c.972T>C (p.Ala324=) c.975T>C (p.Ala325=) c.171T>C (p.Ala57=) c.552T>C (n.552T>C) | |
2 | g.233767144T>G | CA431856237 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.966T>G (p.Ala322=) c.978T>G (p.Ala326=) c.972T>G (p.Ala324=) c.975T>G (p.Ala325=) c.171T>G (p.Ala57=) c.552T>G (n.552T>G) | |
2 | g.233767145T>A | CA351072325 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.967T>A (p.Leu323Met) c.979T>A (p.Leu327Met) c.973T>A (p.Leu325Met) c.976T>A (p.Leu326Met) c.172T>A (p.Leu58Met) c.553T>A (n.553T>A) | |
2 | g.233767145T>C | CA431856246 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.967T>C (p.Leu323=) c.979T>C (p.Leu327=) c.973T>C (p.Leu325=) c.976T>C (p.Leu326=) c.172T>C (p.Leu58=) c.553T>C (n.553T>C) | |
2 | g.233767145T>G | CA351072328 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.967T>G (p.Leu323Val) c.979T>G (p.Leu327Val) c.973T>G (p.Leu325Val) c.976T>G (p.Leu326Val) c.172T>G (p.Leu58Val) c.553T>G (n.553T>G) | |
2 | g.233767146T>A | CA2179934 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.968T>A (p.Leu323Ter) c.980T>A (p.Leu327Ter) c.974T>A (p.Leu325Ter) c.977T>A (p.Leu326Ter) c.173T>A (p.Leu58Ter) c.554T>A (n.554T>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.233767146T>C | CA351072332 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.968T>C (p.Leu323Ser) c.980T>C (p.Leu327Ser) c.974T>C (p.Leu325Ser) c.977T>C (p.Leu326Ser) c.173T>C (p.Leu58Ser) c.554T>C (n.554T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233767146T>G | CA351072334 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.968T>G (p.Leu323Trp) c.980T>G (p.Leu327Trp) c.974T>G (p.Leu325Trp) c.977T>G (p.Leu326Trp) c.173T>G (p.Leu58Trp) c.554T>G (n.554T>G) | |
2 | g.233767146T= | CA1335894736 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.968T= (p.Leu323=) c.980T= (p.Leu327=) c.974T= (p.Leu325=) c.977T= (p.Leu326=) c.173T= (p.Leu58=) c.554T= (n.554T=) | |
2 | g.233767147G>A | CA431856252 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.969G>A (p.Leu323=) c.981G>A (p.Leu327=) c.975G>A (p.Leu325=) c.978G>A (p.Leu326=) c.174G>A (p.Leu58=) c.555G>A (n.555G>A) | |
2 | g.233767147G>C | CA351072336 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.969G>C (p.Leu323Phe) c.981G>C (p.Leu327Phe) c.975G>C (p.Leu325Phe) c.978G>C (p.Leu326Phe) c.174G>C (p.Leu58Phe) c.555G>C (n.555G>C) | |
2 | g.233767147G>T | CA351072337 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.969G>T (p.Leu323Phe) c.981G>T (p.Leu327Phe) c.975G>T (p.Leu325Phe) c.978G>T (p.Leu326Phe) c.174G>T (p.Leu58Phe) c.555G>T (n.555G>T) | |
2 | g.233767148G>A | CA351072339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.970G>A (p.Gly324Ser) c.982G>A (p.Gly328Ser) c.976G>A (p.Gly326Ser) c.979G>A (p.Gly327Ser) c.175G>A (p.Gly59Ser) c.556G>A (n.556G>A) | |
2 | g.233767148G>C | CA351072340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.970G>C (p.Gly324Arg) c.982G>C (p.Gly328Arg) c.976G>C (p.Gly326Arg) c.979G>C (p.Gly327Arg) c.175G>C (p.Gly59Arg) c.556G>C (n.556G>C) | |
2 | g.233767148G>T | CA351072344 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.970G>T (p.Gly324Cys) c.982G>T (p.Gly328Cys) c.976G>T (p.Gly326Cys) c.979G>T (p.Gly327Cys) c.175G>T (p.Gly59Cys) c.556G>T (n.556G>T) | |
2 | g.233767149G>A | CA351072355 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.971G>A (p.Gly324Asp) c.983G>A (p.Gly328Asp) c.977G>A (p.Gly326Asp) c.980G>A (p.Gly327Asp) c.176G>A (p.Gly59Asp) c.557G>A (n.557G>A) | |
2 | g.233767149G>C | CA351072357 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.971G>C (p.Gly324Ala) c.983G>C (p.Gly328Ala) c.977G>C (p.Gly326Ala) c.980G>C (p.Gly327Ala) c.176G>C (p.Gly59Ala) c.557G>C (n.557G>C) | |
2 | g.233767149G>T | CA351072365 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.971G>T (p.Gly324Val) c.983G>T (p.Gly328Val) c.977G>T (p.Gly326Val) c.980G>T (p.Gly327Val) c.176G>T (p.Gly59Val) c.557G>T (n.557G>T) | |
2 | g.233767150C>A | CA431856282 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.972C>A (p.Gly324=) c.984C>A (p.Gly328=) c.978C>A (p.Gly326=) c.981C>A (p.Gly327=) c.177C>A (p.Gly59=) c.558C>A (n.558C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233767150C= | CA1335894737 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.972C= (p.Gly324=) c.984C= (p.Gly328=) c.978C= (p.Gly326=) c.981C= (p.Gly327=) c.177C= (p.Gly59=) c.558C= (n.558C=) | |
2 | g.233767150C>G | CA431856280 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.972C>G (p.Gly324=) c.984C>G (p.Gly328=) c.978C>G (p.Gly326=) c.981C>G (p.Gly327=) c.177C>G (p.Gly59=) c.558C>G (n.558C>G) | |
2 | g.233767150C>T | CA431856287 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.972C>T (p.Gly324=) c.984C>T (p.Gly328=) c.978C>T (p.Gly326=) c.981C>T (p.Gly327=) c.177C>T (p.Gly59=) c.558C>T (n.558C>T) | |
2 | g.233767151A>C | CA351072374 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.973A>C (p.Lys325Gln) c.985A>C (p.Lys329Gln) c.979A>C (p.Lys327Gln) c.982A>C (p.Lys328Gln) c.178A>C (p.Lys60Gln) c.559A>C (n.559A>C) | |
2 | g.233767151A>G | CA351072378 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.973A>G (p.Lys325Glu) c.985A>G (p.Lys329Glu) c.979A>G (p.Lys327Glu) c.982A>G (p.Lys328Glu) c.178A>G (p.Lys60Glu) c.559A>G (n.559A>G) | |
2 | g.233767151A>T | CA351072382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.973A>T (p.Lys325Ter) c.985A>T (p.Lys329Ter) c.979A>T (p.Lys327Ter) c.982A>T (p.Lys328Ter) c.178A>T (p.Lys60Ter) c.559A>T (n.559A>T) | |
2 | g.233767154dup | CA1335894738 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.976dup (p.Ile326AsnfsTer25) c.988dup (p.Ile330AsnfsTer25) c.982dup (p.Ile328AsnfsTer25) c.985dup (p.Ile329AsnfsTer25) c.181dup (p.Ile61AsnfsTer25) c.562dup (n.562dup) | dbSNP |
2 | g.233767152A>C | CA351072385 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.974A>C (p.Lys325Thr) c.986A>C (p.Lys329Thr) c.980A>C (p.Lys327Thr) c.983A>C (p.Lys328Thr) c.179A>C (p.Lys60Thr) c.560A>C (n.560A>C) | |
2 | g.233767152A>G | CA351072391 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.974A>G (p.Lys325Arg) c.986A>G (p.Lys329Arg) c.980A>G (p.Lys327Arg) c.983A>G (p.Lys328Arg) c.179A>G (p.Lys60Arg) c.560A>G (n.560A>G) | |
2 | g.233767152A>T | CA351072405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.974A>T (p.Lys325Ile) c.986A>T (p.Lys329Ile) c.980A>T (p.Lys327Ile) c.983A>T (p.Lys328Ile) c.179A>T (p.Lys60Ile) c.560A>T (n.560A>T) | |
2 | g.233767153A>C | CA351072409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.975A>C (p.Lys325Asn) c.987A>C (p.Lys329Asn) c.981A>C (p.Lys327Asn) c.984A>C (p.Lys328Asn) c.180A>C (p.Lys60Asn) c.561A>C (n.561A>C) | |
2 | g.233767153A>G | CA431856314 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.975A>G (p.Lys325=) c.987A>G (p.Lys329=) c.981A>G (p.Lys327=) c.984A>G (p.Lys328=) c.180A>G (p.Lys60=) c.561A>G (n.561A>G) | |
2 | g.233767153A>T | CA351072412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.975A>T (p.Lys325Asn) c.987A>T (p.Lys329Asn) c.981A>T (p.Lys327Asn) c.984A>T (p.Lys328Asn) c.180A>T (p.Lys60Asn) c.561A>T (n.561A>T) | |
2 | g.233767154A= | CA1335894739 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.976A= (p.Ile326=) c.988A= (p.Ile330=) c.982A= (p.Ile328=) c.985A= (p.Ile329=) c.181A= (p.Ile61=) c.562A= (n.562A=) | |
2 | g.233767154A>C | CA351072417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.976A>C (p.Ile326Leu) c.988A>C (p.Ile330Leu) c.982A>C (p.Ile328Leu) c.985A>C (p.Ile329Leu) c.181A>C (p.Ile61Leu) c.562A>C (n.562A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233767154A>G | CA351072419 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.976A>G (p.Ile326Val) c.988A>G (p.Ile330Val) c.982A>G (p.Ile328Val) c.985A>G (p.Ile329Val) c.181A>G (p.Ile61Val) c.562A>G (n.562A>G) | |
2 | g.233767154A>T | CA351072420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.976A>T (p.Ile326Phe) c.988A>T (p.Ile330Phe) c.982A>T (p.Ile328Phe) c.985A>T (p.Ile329Phe) c.181A>T (p.Ile61Phe) c.562A>T (n.562A>T) | |
2 | g.233767155T>A | CA351072426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.977T>A (p.Ile326Asn) c.989T>A (p.Ile330Asn) c.983T>A (p.Ile328Asn) c.986T>A (p.Ile329Asn) c.182T>A (p.Ile61Asn) c.563T>A (n.563T>A) | |
2 | g.233767155T>C | CA67595194 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.977T>C (p.Ile326Thr) c.989T>C (p.Ile330Thr) c.983T>C (p.Ile328Thr) c.986T>C (p.Ile329Thr) c.182T>C (p.Ile61Thr) c.563T>C (n.563T>C) | dbSNP gnomAD v4 |
2 | g.233767155T>G | CA351072429 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.977T>G (p.Ile326Ser) c.989T>G (p.Ile330Ser) c.983T>G (p.Ile328Ser) c.986T>G (p.Ile329Ser) c.182T>G (p.Ile61Ser) c.563T>G (n.563T>G) | |
2 | g.233767155T= | CA1335894740 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.977T= (p.Ile326=) c.989T= (p.Ile330=) c.983T= (p.Ile328=) c.986T= (p.Ile329=) c.182T= (p.Ile61=) c.563T= (n.563T=) | |
2 | g.233767156C>A | CA67595196 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.978C>A (p.Ile326=) c.990C>A (p.Ile330=) c.984C>A (p.Ile328=) c.987C>A (p.Ile329=) c.183C>A (p.Ile61=) c.564C>A (n.564C>A) | dbSNP gnomAD v4 |
2 | g.233767156C= | CA1335894741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.978C= (p.Ile326=) c.990C= (p.Ile330=) c.984C= (p.Ile328=) c.987C= (p.Ile329=) c.183C= (p.Ile61=) c.564C= (n.564C=) | |
2 | g.233767156C>G | CA351072431 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.978C>G (p.Ile326Met) c.990C>G (p.Ile330Met) c.984C>G (p.Ile328Met) c.987C>G (p.Ile329Met) c.183C>G (p.Ile61Met) c.564C>G (n.564C>G) | |
2 | g.233767156C>T | CA431856328 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.978C>T (p.Ile326=) c.990C>T (p.Ile330=) c.984C>T (p.Ile328=) c.987C>T (p.Ile329=) c.183C>T (p.Ile61=) c.564C>T (n.564C>T) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233767157C>A | CA351072433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.979C>A (p.Pro327Thr) c.991C>A (p.Pro331Thr) c.985C>A (p.Pro329Thr) c.988C>A (p.Pro330Thr) c.184C>A (p.Pro62Thr) c.565C>A (n.565C>A) | |
2 | g.233767157C>G | CA351072435 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.979C>G (p.Pro327Ala) c.991C>G (p.Pro331Ala) c.985C>G (p.Pro329Ala) c.988C>G (p.Pro330Ala) c.184C>G (p.Pro62Ala) c.565C>G (n.565C>G) | |
2 | g.233767157C>T | CA351072439 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.979C>T (p.Pro327Ser) c.991C>T (p.Pro331Ser) c.985C>T (p.Pro329Ser) c.988C>T (p.Pro330Ser) c.184C>T (p.Pro62Ser) c.565C>T (n.565C>T) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233767158C>A | CA351072445 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.980C>A (p.Pro327His) c.992C>A (p.Pro331His) c.986C>A (p.Pro329His) c.989C>A (p.Pro330His) c.185C>A (p.Pro62His) c.566C>A (n.566C>A) | |
2 | g.233767158C>G | CA351072449 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.980C>G (p.Pro327Arg) c.992C>G (p.Pro331Arg) c.986C>G (p.Pro329Arg) c.989C>G (p.Pro330Arg) c.185C>G (p.Pro62Arg) c.566C>G (n.566C>G) | |
2 | g.233767158C>T | CA351072451 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.980C>T (p.Pro327Leu) c.992C>T (p.Pro331Leu) c.986C>T (p.Pro329Leu) c.989C>T (p.Pro330Leu) c.185C>T (p.Pro62Leu) c.566C>T (n.566C>T) | gnomAD v4 |
2 | g.233767159T>A | CA431856340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.981T>A (p.Pro327=) c.993T>A (p.Pro331=) c.987T>A (p.Pro329=) c.990T>A (p.Pro330=) c.186T>A (p.Pro62=) c.567T>A (n.567T>A) | |
2 | g.233767159T>C | CA431856343 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.981T>C (p.Pro327=) c.993T>C (p.Pro331=) c.987T>C (p.Pro329=) c.990T>C (p.Pro330=) c.186T>C (p.Pro62=) c.567T>C (n.567T>C) | ClinVar dbSNP |
2 | g.233767159T>G | CA431856338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.981T>G (p.Pro327=) c.993T>G (p.Pro331=) c.987T>G (p.Pro329=) c.990T>G (p.Pro330=) c.186T>G (p.Pro62=) c.567T>G (n.567T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233767159T= | CA1335894742 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.981T= (p.Pro327=) c.993T= (p.Pro331=) c.987T= (p.Pro329=) c.990T= (p.Pro330=) c.186T= (p.Pro62=) c.567T= (n.567T=) | |
2 | g.233767160C>A | CA351072460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.982C>A (p.Gln328Lys) c.994C>A (p.Gln332Lys) c.988C>A (p.Gln330Lys) c.991C>A (p.Gln331Lys) c.187C>A (p.Gln63Lys) | |
2 | g.233767160C= | CA1335894743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.982C= (p.Gln328=) c.994C= (p.Gln332=) c.988C= (p.Gln330=) c.991C= (p.Gln331=) c.187C= (p.Gln63=) | |
2 | g.233767160C>G | CA351072458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.982C>G (p.Gln328Glu) c.994C>G (p.Gln332Glu) c.988C>G (p.Gln330Glu) c.991C>G (p.Gln331Glu) c.187C>G (p.Gln63Glu) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233767160C>T | CA122017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.982C>T (p.Gln328Ter) c.994C>T (p.Gln332Ter) c.988C>T (p.Gln330Ter) c.991C>T (p.Gln331Ter) c.187C>T (p.Gln63Ter) | ClinVar dbSNP |
2 | g.233767161A= | CA1335894744 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.983A= (p.Gln328=) c.995A= (p.Gln332=) c.989A= (p.Gln330=) c.992A= (p.Gln331=) c.188A= (p.Gln63=) | |
2 | g.233767161A>C | CA351072474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.983A>C (p.Gln328Pro) c.995A>C (p.Gln332Pro) c.989A>C (p.Gln330Pro) c.992A>C (p.Gln331Pro) c.188A>C (p.Gln63Pro) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233767161A>G | CA122041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.983A>G (p.Gln328Arg) c.995A>G (p.Gln332Arg) c.989A>G (p.Gln330Arg) c.992A>G (p.Gln331Arg) c.188A>G (p.Gln63Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233767161A>T | CA351072480 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.983A>T (p.Gln328Leu) c.995A>T (p.Gln332Leu) c.989A>T (p.Gln330Leu) c.992A>T (p.Gln331Leu) c.188A>T (p.Gln63Leu) | |
2 | g.233767162G>A | CA431856361 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.984G>A (p.Gln328=) c.996G>A (p.Gln332=) c.990G>A (p.Gln330=) c.993G>A (p.Gln331=) c.189G>A (p.Gln63=) | |
2 | g.233767162G>C | CA351072481 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.984G>C (p.Gln328His) c.996G>C (p.Gln332His) c.990G>C (p.Gln330His) c.993G>C (p.Gln331His) c.189G>C (p.Gln63His) | |
2 | g.233767162G>T | CA351072482 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.984G>T (p.Gln328His) c.996G>T (p.Gln332His) c.990G>T (p.Gln330His) c.993G>T (p.Gln331His) c.189G>T (p.Gln63His) | |
2 | g.233767163A= | CA1335894745 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.985A= (p.Thr329=) c.997A= (p.Thr333=) c.991A= (p.Thr331=) c.994A= (p.Thr332=) c.190A= (p.Thr64=) | |
2 | g.233767163A>C | CA351072483 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.985A>C (p.Thr329Pro) c.997A>C (p.Thr333Pro) c.991A>C (p.Thr331Pro) c.994A>C (p.Thr332Pro) c.190A>C (p.Thr64Pro) | gnomAD v4 |
2 | g.233767163A>G | CA351072484 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.985A>G (p.Thr329Ala) c.997A>G (p.Thr333Ala) c.991A>G (p.Thr331Ala) c.994A>G (p.Thr332Ala) c.190A>G (p.Thr64Ala) | dbSNP |
2 | g.233767163A>T | CA351072485 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.985A>T (p.Thr329Ser) c.997A>T (p.Thr333Ser) c.991A>T (p.Thr331Ser) c.994A>T (p.Thr332Ser) c.190A>T (p.Thr64Ser) | |
2 | g.233767164C>A | CA351072486 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.986C>A (p.Thr329Lys) c.998C>A (p.Thr333Lys) c.992C>A (p.Thr331Lys) c.995C>A (p.Thr332Lys) c.191C>A (p.Thr64Lys) | |
2 | g.233767164C= | CA1335894746 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.986C= (p.Thr329=) c.998C= (p.Thr333=) c.992C= (p.Thr331=) c.995C= (p.Thr332=) c.191C= (p.Thr64=) | |
2 | g.233767164C>G | CA351072488 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.986C>G (p.Thr329Arg) c.998C>G (p.Thr333Arg) c.992C>G (p.Thr331Arg) c.995C>G (p.Thr332Arg) c.191C>G (p.Thr64Arg) | dbSNP gnomAD v4 |
2 | g.233767164C>T | CA351072490 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.986C>T (p.Thr329Ile) c.998C>T (p.Thr333Ile) c.992C>T (p.Thr331Ile) c.995C>T (p.Thr332Ile) c.191C>T (p.Thr64Ile) | gnomAD v4 |
2 | g.233767165A>C | CA431856376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987A>C (p.Thr329=) c.999A>C (p.Thr333=) c.993A>C (p.Thr331=) c.996A>C (p.Thr332=) c.192A>C (p.Thr64=) | |
2 | g.233767165A>G | CA431856380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987A>G (p.Thr329=) c.999A>G (p.Thr333=) c.993A>G (p.Thr331=) c.996A>G (p.Thr332=) c.192A>G (p.Thr64=) | gnomAD v4 |
2 | g.233767165A>T | CA431856374 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987A>T (p.Thr329=) c.999A>T (p.Thr333=) c.993A>T (p.Thr331=) c.996A>T (p.Thr332=) c.192A>T (p.Thr64=) | |
2 | g.233767167_233767170del | CA2573051895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+2_987+5del c.999+2_999+5del c.993+2_993+5del c.996+2_996+5del c.192+2_192+5del | ClinVar dbSNP |
2 | g.233767166G>A | CA351072494 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+1G>A (n.987+1G>A) c.999+1G>A (n.999+1G>A) c.993+1G>A (n.993+1G>A) c.996+1G>A (n.996+1G>A) c.192+1G>A (n.192+1G>A) | ClinVar dbSNP |
2 | g.233767166G>C | CA351072496 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+1G>C (n.987+1G>C) c.999+1G>C (n.999+1G>C) c.993+1G>C (n.993+1G>C) c.996+1G>C (n.996+1G>C) c.192+1G>C (n.192+1G>C) | |
2 | g.233767166G>T | CA351072501 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+1G>T (n.987+1G>T) c.999+1G>T (n.999+1G>T) c.993+1G>T (n.993+1G>T) c.996+1G>T (n.996+1G>T) c.192+1G>T (n.192+1G>T) | |
2 | g.233767167T>A | CA351072505 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+2T>A (n.987+2T>A) c.999+2T>A (n.999+2T>A) c.993+2T>A (n.993+2T>A) c.996+2T>A (n.996+2T>A) c.192+2T>A (n.192+2T>A) | |
2 | g.233767167T>C | CA351072506 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+2T>C (n.987+2T>C) c.999+2T>C (n.999+2T>C) c.993+2T>C (n.993+2T>C) c.996+2T>C (n.996+2T>C) c.192+2T>C (n.192+2T>C) | gnomAD v4 |
2 | g.233767167T>G | CA351072504 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+2T>G (n.987+2T>G) c.999+2T>G (n.999+2T>G) c.993+2T>G (n.993+2T>G) c.996+2T>G (n.996+2T>G) c.192+2T>G (n.192+2T>G) | |
2 | g.233767169A>G | CA2577284407 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+4A>G (n.987+4A>G) c.999+4A>G (n.999+4A>G) c.993+4A>G (n.993+4A>G) c.996+4A>G (n.996+4A>G) c.192+4A>G (n.192+4A>G) | gnomAD v4 |
2 | g.233767170G>A | CA2663716693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+5G>A (n.987+5G>A) c.999+5G>A (n.999+5G>A) c.993+5G>A (n.993+5G>A) c.996+5G>A (n.996+5G>A) c.192+5G>A (n.192+5G>A) | gnomAD v4 |
2 | g.233767170G>C | CA2586965618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+5G>C (n.987+5G>C) c.999+5G>C (n.999+5G>C) c.993+5G>C (n.993+5G>C) c.996+5G>C (n.996+5G>C) c.192+5G>C (n.192+5G>C) | |
2 | g.233767172A= | CA1335894747 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+7A= (n.987+7A=) c.999+7A= (n.999+7A=) c.993+7A= (n.993+7A=) c.996+7A= (n.996+7A=) c.192+7A= (n.192+7A=) | |
2 | g.233767172A>C | CA2179935 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+7A>C (n.987+7A>C) c.999+7A>C (n.999+7A>C) c.993+7A>C (n.993+7A>C) c.996+7A>C (n.996+7A>C) c.192+7A>C (n.192+7A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233767172A>G | CA2179936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+7A>G (n.987+7A>G) c.999+7A>G (n.999+7A>G) c.993+7A>G (n.993+7A>G) c.996+7A>G (n.996+7A>G) c.192+7A>G (n.192+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233767173G>A | CA2838210341 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+8G>A (n.987+8G>A) c.999+8G>A (n.999+8G>A) c.993+8G>A (n.993+8G>A) c.996+8G>A (n.996+8G>A) c.192+8G>A (n.192+8G>A) | |
2 | g.233767173G>T | CA2577284408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+8G>T (n.987+8G>T) c.999+8G>T (n.999+8G>T) c.993+8G>T (n.993+8G>T) c.996+8G>T (n.996+8G>T) c.192+8G>T (n.192+8G>T) | gnomAD v4 |
2 | g.233767174A>G | CA2577284409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+9A>G (n.987+9A>G) c.999+9A>G (n.999+9A>G) c.993+9A>G (n.993+9A>G) c.996+9A>G (n.996+9A>G) c.192+9A>G (n.192+9A>G) | gnomAD v4 |
2 | g.233767174_233767175insATT | CA2842951023 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+9_987+10insATT (n.987+9_987+10insATT) c.999+9_999+10insATT (n.999+9_999+10insATT) c.993+9_993+10insATT (n.993+9_993+10insATT) c.996+9_996+10insATT (n.996+9_996+10insATT) c.192+9_192+10insATT (n.192+9_192+10insATT) | |
2 | g.233767175T>C | CA1335894749 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+10T>C (n.987+10T>C) c.999+10T>C (n.999+10T>C) c.993+10T>C (n.993+10T>C) c.996+10T>C (n.996+10T>C) c.192+10T>C (n.192+10T>C) | dbSNP |
2 | g.233767175T>G | CA766290741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+10T>G (n.987+10T>G) c.999+10T>G (n.999+10T>G) c.993+10T>G (n.993+10T>G) c.996+10T>G (n.996+10T>G) c.192+10T>G (n.192+10T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233767175T= | CA1335894748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+10T= (n.987+10T=) c.999+10T= (n.999+10T=) c.993+10T= (n.993+10T=) c.996+10T= (n.996+10T=) c.192+10T= (n.192+10T=) | |
2 | g.233767176T>C | CA2179937 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+11T>C (n.987+11T>C) c.999+11T>C (n.999+11T>C) c.993+11T>C (n.993+11T>C) c.996+11T>C (n.996+11T>C) c.192+11T>C (n.192+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233767176T= | CA1335894750 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+11T= (n.987+11T=) c.999+11T= (n.999+11T=) c.993+11T= (n.993+11T=) c.996+11T= (n.996+11T=) c.192+11T= (n.192+11T=) | |
2 | g.233767176_233767177delinsTC | CA1335894751 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+11_987+12delinsTC (n.987+11_987+12delinsTC) c.999+11_999+12delinsTC (n.999+11_999+12delinsTC) c.993+11_993+12delinsTC (n.993+11_993+12delinsTC) c.996+11_996+12delinsTC (n.996+11_996+12delinsTC) c.192+11_192+12delinsTC (n.192+11_192+12delinsTC) | |
2 | g.233767177del | CA1335894752 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+12del (n.987+12del) c.999+12del (n.999+12del) c.993+12del (n.993+12del) c.996+12del (n.996+12del) c.192+12del (n.192+12del) | dbSNP |
2 | g.233767177C>A | CA2754693408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+12C>A (n.987+12C>A) c.999+12C>A (n.999+12C>A) c.993+12C>A (n.993+12C>A) c.996+12C>A (n.996+12C>A) c.192+12C>A (n.192+12C>A) | |
2 | g.233767177C= | CA1335894753 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+12C= (n.987+12C=) c.999+12C= (n.999+12C=) c.993+12C= (n.993+12C=) c.996+12C= (n.996+12C=) c.192+12C= (n.192+12C=) | |
2 | g.233767177C>G | CA540072002 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+12C>G (n.987+12C>G) c.999+12C>G (n.999+12C>G) c.993+12C>G (n.993+12C>G) c.996+12C>G (n.996+12C>G) c.192+12C>G (n.192+12C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233767178T>C | CA2179938 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+13T>C (n.987+13T>C) c.999+13T>C (n.999+13T>C) c.993+13T>C (n.993+13T>C) c.996+13T>C (n.996+13T>C) c.192+13T>C (n.192+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233767178T= | CA1335894754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+13T= (n.987+13T=) c.999+13T= (n.999+13T=) c.993+13T= (n.993+13T=) c.996+13T= (n.996+13T=) c.192+13T= (n.192+13T=) | |
2 | g.233767179A= | CA1335894755 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+14A= (n.987+14A=) c.999+14A= (n.999+14A=) c.993+14A= (n.993+14A=) c.996+14A= (n.996+14A=) c.192+14A= (n.192+14A=) | |
2 | g.233767179A>G | CA1335894756 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+14A>G (n.987+14A>G) c.999+14A>G (n.999+14A>G) c.993+14A>G (n.993+14A>G) c.996+14A>G (n.996+14A>G) c.192+14A>G (n.192+14A>G) | dbSNP |
2 | g.233767180T>C | CA173888 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+15T>C (n.987+15T>C) c.999+15T>C (n.999+15T>C) c.993+15T>C (n.993+15T>C) c.996+15T>C (n.996+15T>C) c.192+15T>C (n.192+15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233767180T= | CA1335894757 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+15T= (n.987+15T=) c.999+15T= (n.999+15T=) c.993+15T= (n.993+15T=) c.996+15T= (n.996+15T=) c.192+15T= (n.192+15T=) | |
2 | g.233767182C>T | CA2663716704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+17C>T (n.987+17C>T) c.999+17C>T (n.999+17C>T) c.993+17C>T (n.993+17C>T) c.996+17C>T (n.996+17C>T) c.192+17C>T (n.192+17C>T) | gnomAD v4 |
2 | g.233767183C>A | CA2838146823 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+18C>A (n.987+18C>A) c.999+18C>A (n.999+18C>A) c.993+18C>A (n.993+18C>A) c.996+18C>A (n.996+18C>A) c.192+18C>A (n.192+18C>A) | |
2 | g.233767183C= | CA1335894758 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+18C= (n.987+18C=) c.999+18C= (n.999+18C=) c.993+18C= (n.993+18C=) c.996+18C= (n.996+18C=) c.192+18C= (n.192+18C=) | |
2 | g.233767183C>G | CA2838146822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+18C>G (n.987+18C>G) c.999+18C>G (n.999+18C>G) c.993+18C>G (n.993+18C>G) c.996+18C>G (n.996+18C>G) c.192+18C>G (n.192+18C>G) | |
2 | g.233767183C>T | CA2179939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+18C>T (n.987+18C>T) c.999+18C>T (n.999+18C>T) c.993+18C>T (n.993+18C>T) c.996+18C>T (n.996+18C>T) c.192+18C>T (n.192+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233767184A= | CA1335894759 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+19A= (n.987+19A=) c.999+19A= (n.999+19A=) c.993+19A= (n.993+19A=) c.996+19A= (n.996+19A=) c.192+19A= (n.192+19A=) | |
2 | g.233767184A>T | CA540072006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+19A>T (n.987+19A>T) c.999+19A>T (n.999+19A>T) c.993+19A>T (n.993+19A>T) c.996+19A>T (n.996+19A>T) c.192+19A>T (n.192+19A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233767185T>C | CA2754693409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+20T>C (n.987+20T>C) c.999+20T>C (n.999+20T>C) c.993+20T>C (n.993+20T>C) c.996+20T>C (n.996+20T>C) c.192+20T>C (n.192+20T>C) | |
2 | g.233767186G>T | CA2577284410 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+21G>T (n.987+21G>T) c.999+21G>T (n.999+21G>T) c.993+21G>T (n.993+21G>T) c.996+21G>T (n.996+21G>T) c.192+21G>T (n.192+21G>T) | |
2 | g.233767190T>G | CA2663716708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+25T>G (n.987+25T>G) c.999+25T>G (n.999+25T>G) c.993+25T>G (n.993+25T>G) c.996+25T>G (n.996+25T>G) c.192+25T>G (n.192+25T>G) | gnomAD v4 |
2 | g.233767191C= | CA1335894760 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+26C= (n.987+26C=) c.999+26C= (n.999+26C=) c.993+26C= (n.993+26C=) c.996+26C= (n.996+26C=) c.192+26C= (n.192+26C=) | |
2 | g.233767191C>T | CA540072007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+26C>T (n.987+26C>T) c.999+26C>T (n.999+26C>T) c.993+26C>T (n.993+26C>T) c.996+26C>T (n.996+26C>T) c.192+26C>T (n.192+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233767192A= | CA1335894761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+27A= (n.987+27A=) c.999+27A= (n.999+27A=) c.993+27A= (n.993+27A=) c.996+27A= (n.996+27A=) c.192+27A= (n.192+27A=) | |
2 | g.233767192A>C | CA2179941 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+27A>C (n.987+27A>C) c.999+27A>C (n.999+27A>C) c.993+27A>C (n.993+27A>C) c.996+27A>C (n.996+27A>C) c.192+27A>C (n.192+27A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233767192A>G | CA2179940 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+27A>G (n.987+27A>G) c.999+27A>G (n.999+27A>G) c.993+27A>G (n.993+27A>G) c.996+27A>G (n.996+27A>G) c.192+27A>G (n.192+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233767193T>G | CA2179942 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+28T>G (n.987+28T>G) c.999+28T>G (n.999+28T>G) c.993+28T>G (n.993+28T>G) c.996+28T>G (n.996+28T>G) c.192+28T>G (n.192+28T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233767193T= | CA1335894762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+28T= (n.987+28T=) c.999+28T= (n.999+28T=) c.993+28T= (n.993+28T=) c.996+28T= (n.996+28T=) c.192+28T= (n.192+28T=) | |
2 | g.233767194A= | CA1335894763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+29A= (n.987+29A=) c.999+29A= (n.999+29A=) c.993+29A= (n.993+29A=) c.996+29A= (n.996+29A=) c.192+29A= (n.192+29A=) | |
2 | g.233767194A>C | CA2179943 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+29A>C (n.987+29A>C) c.999+29A>C (n.999+29A>C) c.993+29A>C (n.993+29A>C) c.996+29A>C (n.996+29A>C) c.192+29A>C (n.192+29A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233767195T>C | CA1335894765 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+30T>C (n.987+30T>C) c.999+30T>C (n.999+30T>C) c.993+30T>C (n.993+30T>C) c.996+30T>C (n.996+30T>C) c.192+30T>C (n.192+30T>C) | dbSNP gnomAD v4 |
2 | g.233767195T= | CA1335894764 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+30T= (n.987+30T=) c.999+30T= (n.999+30T=) c.993+30T= (n.993+30T=) c.996+30T= (n.996+30T=) c.192+30T= (n.192+30T=) | |
2 | g.233767197T>C | CA2842951024 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+32T>C (n.987+32T>C) c.999+32T>C (n.999+32T>C) c.993+32T>C (n.993+32T>C) c.996+32T>C (n.996+32T>C) c.192+32T>C (n.192+32T>C) | |
2 | g.233767198A>G | CA2663716717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+33A>G (n.987+33A>G) c.999+33A>G (n.999+33A>G) c.993+33A>G (n.993+33A>G) c.996+33A>G (n.996+33A>G) c.192+33A>G (n.192+33A>G) | gnomAD v4 |
2 | g.233767199T>C | CA2663716719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+34T>C (n.987+34T>C) c.999+34T>C (n.999+34T>C) c.993+34T>C (n.993+34T>C) c.996+34T>C (n.996+34T>C) c.192+34T>C (n.192+34T>C) | dbSNP gnomAD v4 |
2 | g.233767201T>C | CA2179944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+36T>C (n.987+36T>C) c.999+36T>C (n.999+36T>C) c.993+36T>C (n.993+36T>C) c.996+36T>C (n.996+36T>C) c.192+36T>C (n.192+36T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233767201T= | CA1335894766 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+36T= (n.987+36T=) c.999+36T= (n.999+36T=) c.993+36T= (n.993+36T=) c.996+36T= (n.996+36T=) c.192+36T= (n.192+36T=) | |
2 | g.233767202T>G | CA2577284411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+37T>G (n.987+37T>G) c.999+37T>G (n.999+37T>G) c.993+37T>G (n.993+37T>G) c.996+37T>G (n.996+37T>G) c.192+37T>G (n.192+37T>G) | gnomAD v4 |
2 | g.233767203C>T | CA2663716725 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+38C>T (n.987+38C>T) c.999+38C>T (n.999+38C>T) c.993+38C>T (n.993+38C>T) c.996+38C>T (n.996+38C>T) c.192+38C>T (n.192+38C>T) | gnomAD v4 |
2 | g.233767204A>G | CA2518291651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.987+39A>G (n.987+39A>G) c.999+39A>G (n.999+39A>G) c.993+39A>G (n.993+39A>G) c.996+39A>G (n.996+39A>G) c.192+39A>G (n.192+39A>G) | gnomAD v4 |