Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233767105A>CCA431855827UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767105A>GCA431855833UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767105A>TCA431855830UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767106G>ACA351072008UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767106G>CCA351072010UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767106G>TCA351072016UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767107A>CCA351072020UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767107A>GCA351072028UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767107A>TCA351072026UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767108A>CCA351072030UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767108A>GCA431855856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767108A>TCA351072031UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233767109A=CA1335894725UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.931A= (p.Ile311=)
c.943A= (p.Ile315=)
c.937A= (p.Ile313=)
c.940A= (p.Ile314=)
c.136A= (p.Ile46=)
c.517A= (n.517A=)
2g.233767109A>CCA351072035UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233767109A>GCA351072039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233767109A>TCA351072041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767110T>ACA351072051UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767110T>CCA351072053UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767110T>GCA351072056UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767111T>ACA431855881UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767111T>CCA431855885UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767111T>GCA351072059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767112C>ACA351072061UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233767112C=CA1335894726UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.934C= (p.Pro312=)
c.946C= (p.Pro316=)
c.940C= (p.Pro314=)
c.943C= (p.Pro315=)
c.139C= (p.Pro47=)
c.520C= (n.520C=)
2g.233767112C>GCA351072063UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233767112C>TCA2179928UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233767113C>ACA351072070UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767113C>GCA351072075UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767113C>TCA351072073UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767114A>CCA431855899UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767114A>GCA431855906UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767114A>TCA431855902UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767115G>ACA351072077UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767115G>CCA351072080UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767115G>TCA351072082UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767116A>CCA351072086UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767116A>GCA351072087UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767116A>TCA351072089UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767117G>ACA431855946UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767117G>CCA351072092UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767117G>TCA351072094UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767118A=CA1335894727UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.940A= (p.Lys314=)
c.952A= (p.Lys318=)
c.946A= (p.Lys316=)
c.949A= (p.Lys317=)
c.145A= (p.Lys49=)
c.526A= (n.526A=)
2g.233767118A>CCA351072097UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767118A>GCA67595127UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233767118A>TCA351072104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767119A>CCA351072107UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233767119A>GCA351072110UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767119A>TCA351072112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233767120G>ACA431855973UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233767120G>CCA351072115UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)

Number of alleles fetched