Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233767782A=CA1335895024UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-67A= (n.988-67A=)
c.1000-67A= (n.1000-67A=)
c.994-67A= (n.994-67A=)
c.997-67A= (n.997-67A=)
c.193-67A= (n.193-67A=)
2g.233767782A>GCA766290997UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-67A>G (n.988-67A>G)
c.1000-67A>G (n.1000-67A>G)
c.994-67A>G (n.994-67A>G)
c.997-67A>G (n.997-67A>G)
c.193-67A>G (n.193-67A>G)
dbSNP gnomAD v3 gnomAD v4
2g.233767782A>TCA2663717081UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-67A>T (n.988-67A>T)
c.1000-67A>T (n.1000-67A>T)
c.994-67A>T (n.994-67A>T)
c.997-67A>T (n.997-67A>T)
c.193-67A>T (n.193-67A>T)
gnomAD v4
2g.233767783T>CCA2577284422UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-66T>C (n.988-66T>C)
c.1000-66T>C (n.1000-66T>C)
c.994-66T>C (n.994-66T>C)
c.997-66T>C (n.997-66T>C)
c.193-66T>C (n.193-66T>C)
gnomAD v4
2g.233767783T>GCA2547881505UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-66T>G (n.988-66T>G)
c.1000-66T>G (n.1000-66T>G)
c.994-66T>G (n.994-66T>G)
c.997-66T>G (n.997-66T>G)
c.193-66T>G (n.193-66T>G)
2g.233767784A>CCA2663717083UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-65A>C (n.988-65A>C)
c.1000-65A>C (n.1000-65A>C)
c.994-65A>C (n.994-65A>C)
c.997-65A>C (n.997-65A>C)
c.193-65A>C (n.193-65A>C)
gnomAD v4
2g.233767784A>TCA2663717084UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-65A>T (n.988-65A>T)
c.1000-65A>T (n.1000-65A>T)
c.994-65A>T (n.994-65A>T)
c.997-65A>T (n.997-65A>T)
c.193-65A>T (n.193-65A>T)
gnomAD v4
2g.233767785G>CCA1043571140UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-64G>C (n.988-64G>C)
c.1000-64G>C (n.1000-64G>C)
c.994-64G>C (n.994-64G>C)
c.997-64G>C (n.997-64G>C)
c.193-64G>C (n.193-64G>C)
dbSNP gnomAD v3 gnomAD v4
2g.233767785G=CA1335895025UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-64G= (n.988-64G=)
c.1000-64G= (n.1000-64G=)
c.994-64G= (n.994-64G=)
c.997-64G= (n.997-64G=)
c.193-64G= (n.193-64G=)
2g.233767785G>TCA2663717085UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-64G>T (n.988-64G>T)
c.1000-64G>T (n.1000-64G>T)
c.994-64G>T (n.994-64G>T)
c.997-64G>T (n.997-64G>T)
c.193-64G>T (n.193-64G>T)
gnomAD v4
2g.233767788G>CCA67595647UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-61G>C (n.988-61G>C)
c.1000-61G>C (n.1000-61G>C)
c.994-61G>C (n.994-61G>C)
c.997-61G>C (n.997-61G>C)
c.193-61G>C (n.193-61G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767788G=CA1335895026UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-61G= (n.988-61G=)
c.1000-61G= (n.1000-61G=)
c.994-61G= (n.994-61G=)
c.997-61G= (n.997-61G=)
c.193-61G= (n.193-61G=)
2g.233767788G>TCA2663717087UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-61G>T (n.988-61G>T)
c.1000-61G>T (n.1000-61G>T)
c.994-61G>T (n.994-61G>T)
c.997-61G>T (n.997-61G>T)
c.193-61G>T (n.193-61G>T)
gnomAD v4
2g.233767789A=CA1335895027UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-60A= (n.988-60A=)
c.1000-60A= (n.1000-60A=)
c.994-60A= (n.994-60A=)
c.997-60A= (n.997-60A=)
c.193-60A= (n.193-60A=)
2g.233767789A>TCA1043571150UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-60A>T (n.988-60A>T)
c.1000-60A>T (n.1000-60A>T)
c.994-60A>T (n.994-60A>T)
c.997-60A>T (n.997-60A>T)
c.193-60A>T (n.193-60A>T)
dbSNP gnomAD v3 gnomAD v4
2g.233767790T>CCA2663717089UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-59T>C (n.988-59T>C)
c.1000-59T>C (n.1000-59T>C)
c.994-59T>C (n.994-59T>C)
c.997-59T>C (n.997-59T>C)
c.193-59T>C (n.193-59T>C)
gnomAD v4
2g.233767792T>CCA67595662UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-57T>C (n.988-57T>C)
c.1000-57T>C (n.1000-57T>C)
c.994-57T>C (n.994-57T>C)
c.997-57T>C (n.997-57T>C)
c.193-57T>C (n.193-57T>C)
dbSNP gnomAD v4
2g.233767792T>GCA1043571153UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-57T>G (n.988-57T>G)
c.1000-57T>G (n.1000-57T>G)
c.994-57T>G (n.994-57T>G)
c.997-57T>G (n.997-57T>G)
c.193-57T>G (n.193-57T>G)
dbSNP gnomAD v3 gnomAD v4
2g.233767792T=CA1335895028UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-57T= (n.988-57T=)
c.1000-57T= (n.1000-57T=)
c.994-57T= (n.994-57T=)
c.997-57T= (n.997-57T=)
c.193-57T= (n.193-57T=)
2g.233767797delCA2663717093UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-52del (n.988-52del)
c.1000-52del (n.1000-52del)
c.994-52del (n.994-52del)
c.997-52del (n.997-52del)
c.193-52del (n.193-52del)
gnomAD v4
2g.233767796T>GCA2754693423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-53T>G (n.988-53T>G)
c.1000-53T>G (n.1000-53T>G)
c.994-53T>G (n.994-53T>G)
c.997-53T>G (n.997-53T>G)
c.193-53T>G (n.193-53T>G)
2g.233767797T>GCA67595668UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-52T>G (n.988-52T>G)
c.1000-52T>G (n.1000-52T>G)
c.994-52T>G (n.994-52T>G)
c.997-52T>G (n.997-52T>G)
c.193-52T>G (n.193-52T>G)
dbSNP gnomAD v3 gnomAD v4
2g.233767797T=CA1335895029UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-52T= (n.988-52T=)
c.1000-52T= (n.1000-52T=)
c.994-52T= (n.994-52T=)
c.997-52T= (n.997-52T=)
c.193-52T= (n.193-52T=)
2g.233767798C=CA1335895030UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-51C= (n.988-51C=)
c.1000-51C= (n.1000-51C=)
c.994-51C= (n.994-51C=)
c.997-51C= (n.997-51C=)
c.193-51C= (n.193-51C=)
2g.233767798C>GCA540072087UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-51C>G (n.988-51C>G)
c.1000-51C>G (n.1000-51C>G)
c.994-51C>G (n.994-51C>G)
c.997-51C>G (n.997-51C>G)
c.193-51C>G (n.193-51C>G)
dbSNP gnomAD v2 gnomAD v4
2g.233767799T>ACA1043571160UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-50T>A (n.988-50T>A)
c.1000-50T>A (n.1000-50T>A)
c.994-50T>A (n.994-50T>A)
c.997-50T>A (n.997-50T>A)
c.193-50T>A (n.193-50T>A)
dbSNP gnomAD v3 gnomAD v4
2g.233767799T=CA1335895031UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-50T= (n.988-50T=)
c.1000-50T= (n.1000-50T=)
c.994-50T= (n.994-50T=)
c.997-50T= (n.997-50T=)
c.193-50T= (n.193-50T=)
2g.233767800A=CA1335895032UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-49A= (n.988-49A=)
c.1000-49A= (n.1000-49A=)
c.994-49A= (n.994-49A=)
c.997-49A= (n.997-49A=)
c.193-49A= (n.193-49A=)
2g.233767800A>GCA67595673UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-49A>G (n.988-49A>G)
c.1000-49A>G (n.1000-49A>G)
c.994-49A>G (n.994-49A>G)
c.997-49A>G (n.997-49A>G)
c.193-49A>G (n.193-49A>G)
dbSNP gnomAD v4
2g.233767802T>CCA2663717098UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-47T>C (n.988-47T>C)
c.1000-47T>C (n.1000-47T>C)
c.994-47T>C (n.994-47T>C)
c.997-47T>C (n.997-47T>C)
c.193-47T>C (n.193-47T>C)
gnomAD v4
2g.233767804A=CA1335895033UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-45A= (n.988-45A=)
c.1000-45A= (n.1000-45A=)
c.994-45A= (n.994-45A=)
c.997-45A= (n.997-45A=)
c.193-45A= (n.193-45A=)
2g.233767804A>CCA1335895034UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-45A>C (n.988-45A>C)
c.1000-45A>C (n.1000-45A>C)
c.994-45A>C (n.994-45A>C)
c.997-45A>C (n.997-45A>C)
c.193-45A>C (n.193-45A>C)
dbSNP
2g.233767804A>TCA2663717099UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-45A>T (n.988-45A>T)
c.1000-45A>T (n.1000-45A>T)
c.994-45A>T (n.994-45A>T)
c.997-45A>T (n.997-45A>T)
c.193-45A>T (n.193-45A>T)
gnomAD v4
2g.233767805T>CCA2179948UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-44T>C (n.988-44T>C)
c.1000-44T>C (n.1000-44T>C)
c.994-44T>C (n.994-44T>C)
c.997-44T>C (n.997-44T>C)
c.193-44T>C (n.193-44T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767805T=CA1335895035UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-44T= (n.988-44T=)
c.1000-44T= (n.1000-44T=)
c.994-44T= (n.994-44T=)
c.997-44T= (n.997-44T=)
c.193-44T= (n.193-44T=)
2g.233767806A>GCA2577284423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-43A>G (n.988-43A>G)
c.1000-43A>G (n.1000-43A>G)
c.994-43A>G (n.994-43A>G)
c.997-43A>G (n.997-43A>G)
c.193-43A>G (n.193-43A>G)
gnomAD v4
2g.233767807T>CCA2663717101UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-42T>C (n.988-42T>C)
c.1000-42T>C (n.1000-42T>C)
c.994-42T>C (n.994-42T>C)
c.997-42T>C (n.997-42T>C)
c.193-42T>C (n.193-42T>C)
gnomAD v4
2g.233767810T>CCA2179949UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-39T>C (n.988-39T>C)
c.1000-39T>C (n.1000-39T>C)
c.994-39T>C (n.994-39T>C)
c.997-39T>C (n.997-39T>C)
c.193-39T>C (n.193-39T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767810T=CA1335895036UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-39T= (n.988-39T=)
c.1000-39T= (n.1000-39T=)
c.994-39T= (n.994-39T=)
c.997-39T= (n.997-39T=)
c.193-39T= (n.193-39T=)
2g.233767811G>ACA2577284424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-38G>A (n.988-38G>A)
c.1000-38G>A (n.1000-38G>A)
c.994-38G>A (n.994-38G>A)
c.997-38G>A (n.997-38G>A)
c.193-38G>A (n.193-38G>A)
2g.233767811G>CCA2179950UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-38G>C (n.988-38G>C)
c.1000-38G>C (n.1000-38G>C)
c.994-38G>C (n.994-38G>C)
c.997-38G>C (n.997-38G>C)
c.193-38G>C (n.193-38G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767811G=CA1335895038UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-38G= (n.988-38G=)
c.1000-38G= (n.1000-38G=)
c.994-38G= (n.994-38G=)
c.997-38G= (n.997-38G=)
c.193-38G= (n.193-38G=)
2g.233767811_233767815delinsGTTCTCA1335895037UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-38_988-34delinsGTTCT (n.988-38_988-34delinsGTTCT)
c.1000-38_1000-34delinsGTTCT (n.1000-38_1000-34delinsGTTCT)
c.994-38_994-34delinsGTTCT (n.994-38_994-34delinsGTTCT)
c.997-38_997-34delinsGTTCT (n.997-38_997-34delinsGTTCT)
c.193-38_193-34delinsGTTCT (n.193-38_193-34delinsGTTCT)
2g.233767812T>CCA2179952UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-37T>C (n.988-37T>C)
c.1000-37T>C (n.1000-37T>C)
c.994-37T>C (n.994-37T>C)
c.997-37T>C (n.997-37T>C)
c.193-37T>C (n.193-37T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767812T>GCA2663717108UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-37T>G (n.988-37T>G)
c.1000-37T>G (n.1000-37T>G)
c.994-37T>G (n.994-37T>G)
c.997-37T>G (n.997-37T>G)
c.193-37T>G (n.193-37T>G)
gnomAD v4
2g.233767812T=CA1335895039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-37T= (n.988-37T=)
c.1000-37T= (n.1000-37T=)
c.994-37T= (n.994-37T=)
c.997-37T= (n.997-37T=)
c.193-37T= (n.193-37T=)
2g.233767818_233767821delCA2179951UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-31_988-28del (n.988-31_988-28del)
c.1000-31_1000-28del (n.1000-31_1000-28del)
c.994-31_994-28del (n.994-31_994-28del)
c.997-31_997-28del (n.997-31_997-28del)
c.193-31_193-28del (n.193-31_193-28del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767813T>GCA1335895041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-36T>G (n.988-36T>G)
c.1000-36T>G (n.1000-36T>G)
c.994-36T>G (n.994-36T>G)
c.997-36T>G (n.997-36T>G)
c.193-36T>G (n.193-36T>G)
dbSNP
2g.233767813T=CA1335895040UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-36T= (n.988-36T=)
c.1000-36T= (n.1000-36T=)
c.994-36T= (n.994-36T=)
c.997-36T= (n.997-36T=)
c.193-36T= (n.193-36T=)
2g.233767814C>ACA2179954UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-35C>A (n.988-35C>A)
c.1000-35C>A (n.1000-35C>A)
c.994-35C>A (n.994-35C>A)
c.997-35C>A (n.997-35C>A)
c.193-35C>A (n.193-35C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767814C=CA1335895042UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-35C= (n.988-35C=)
c.1000-35C= (n.1000-35C=)
c.994-35C= (n.994-35C=)
c.997-35C= (n.997-35C=)
c.193-35C= (n.193-35C=)
2g.233767814C>GCA2179953UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-35C>G (n.988-35C>G)
c.1000-35C>G (n.1000-35C>G)
c.994-35C>G (n.994-35C>G)
c.997-35C>G (n.997-35C>G)
c.193-35C>G (n.193-35C>G)
dbSNP ExAC gnomAD v2
2g.233767817T>GCA1335895044UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-32T>G (n.988-32T>G)
c.1000-32T>G (n.1000-32T>G)
c.994-32T>G (n.994-32T>G)
c.997-32T>G (n.997-32T>G)
c.193-32T>G (n.193-32T>G)
dbSNP
2g.233767817T=CA1335895043UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-32T= (n.988-32T=)
c.1000-32T= (n.1000-32T=)
c.994-32T= (n.994-32T=)
c.997-32T= (n.997-32T=)
c.193-32T= (n.193-32T=)
2g.233767818C=CA1335895045UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-31C= (n.988-31C=)
c.1000-31C= (n.1000-31C=)
c.994-31C= (n.994-31C=)
c.997-31C= (n.997-31C=)
c.193-31C= (n.193-31C=)
2g.233767818C>GCA2179955UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-31C>G (n.988-31C>G)
c.1000-31C>G (n.1000-31C>G)
c.994-31C>G (n.994-31C>G)
c.997-31C>G (n.997-31C>G)
c.193-31C>G (n.193-31C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767818C>TCA2179956UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-31C>T (n.988-31C>T)
c.1000-31C>T (n.1000-31C>T)
c.994-31C>T (n.994-31C>T)
c.997-31C>T (n.997-31C>T)
c.193-31C>T (n.193-31C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767820T>CCA2740378348UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-29T>C (n.988-29T>C)
c.1000-29T>C (n.1000-29T>C)
c.994-29T>C (n.994-29T>C)
c.997-29T>C (n.997-29T>C)
c.193-29T>C (n.193-29T>C)
2g.233767822A=CA1335895047UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-27A= (n.988-27A=)
c.1000-27A= (n.1000-27A=)
c.994-27A= (n.994-27A=)
c.997-27A= (n.997-27A=)
c.193-27A= (n.193-27A=)
2g.233767822A>TCA2179957UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-27A>T (n.988-27A>T)
c.1000-27A>T (n.1000-27A>T)
c.994-27A>T (n.994-27A>T)
c.997-27A>T (n.997-27A>T)
c.193-27A>T (n.193-27A>T)
dbSNP ExAC gnomAD v2
2g.233767822_233767824delinsACGCA1335895046UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-27_988-25delinsACG (n.988-27_988-25delinsACG)
c.1000-27_1000-25delinsACG (n.1000-27_1000-25delinsACG)
c.994-27_994-25delinsACG (n.994-27_994-25delinsACG)
c.997-27_997-25delinsACG (n.997-27_997-25delinsACG)
c.193-27_193-25delinsACG (n.193-27_193-25delinsACG)
2g.233767823C=CA1335895048UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-26C= (n.988-26C=)
c.1000-26C= (n.1000-26C=)
c.994-26C= (n.994-26C=)
c.997-26C= (n.997-26C=)
c.193-26C= (n.193-26C=)
2g.233767823C>GCA1335895049UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-26C>G (n.988-26C>G)
c.1000-26C>G (n.1000-26C>G)
c.994-26C>G (n.994-26C>G)
c.997-26C>G (n.997-26C>G)
c.193-26C>G (n.193-26C>G)
dbSNP
2g.233767823C>TCA2179959UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-26C>T (n.988-26C>T)
c.1000-26C>T (n.1000-26C>T)
c.994-26C>T (n.994-26C>T)
c.997-26C>T (n.997-26C>T)
c.193-26C>T (n.193-26C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767823_233767824delCA2179958UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-26_988-25del (n.988-26_988-25del)
c.1000-26_1000-25del (n.1000-26_1000-25del)
c.994-26_994-25del (n.994-26_994-25del)
c.997-26_997-25del (n.997-26_997-25del)
c.193-26_193-25del (n.193-26_193-25del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767824G>ACA2179960UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-25G>A (n.988-25G>A)
c.1000-25G>A (n.1000-25G>A)
c.994-25G>A (n.994-25G>A)
c.997-25G>A (n.997-25G>A)
c.193-25G>A (n.193-25G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767824G>CCA1335895051UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-25G>C (n.988-25G>C)
c.1000-25G>C (n.1000-25G>C)
c.994-25G>C (n.994-25G>C)
c.997-25G>C (n.997-25G>C)
c.193-25G>C (n.193-25G>C)
dbSNP
2g.233767824G=CA1335895050UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-25G= (n.988-25G=)
c.1000-25G= (n.1000-25G=)
c.994-25G= (n.994-25G=)
c.997-25G= (n.997-25G=)
c.193-25G= (n.193-25G=)
2g.233767826T>CCA540311595UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-23T>C (n.988-23T>C)
c.1000-23T>C (n.1000-23T>C)
c.994-23T>C (n.994-23T>C)
c.997-23T>C (n.997-23T>C)
c.193-23T>C (n.193-23T>C)
dbSNP gnomAD v2 gnomAD v4
2g.233767826T=CA1335895052UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-23T= (n.988-23T=)
c.1000-23T= (n.1000-23T=)
c.994-23T= (n.994-23T=)
c.997-23T= (n.997-23T=)
c.193-23T= (n.193-23T=)
2g.233767827C=CA1335895053UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-22C= (n.988-22C=)
c.1000-22C= (n.1000-22C=)
c.994-22C= (n.994-22C=)
c.997-22C= (n.997-22C=)
c.193-22C= (n.193-22C=)
2g.233767827C>GCA2663717126UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-22C>G (n.988-22C>G)
c.1000-22C>G (n.1000-22C>G)
c.994-22C>G (n.994-22C>G)
c.997-22C>G (n.997-22C>G)
c.193-22C>G (n.193-22C>G)
gnomAD v4
2g.233767827C>TCA766291038UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-22C>T (n.988-22C>T)
c.1000-22C>T (n.1000-22C>T)
c.994-22C>T (n.994-22C>T)
c.997-22C>T (n.997-22C>T)
c.193-22C>T (n.193-22C>T)
dbSNP gnomAD v4
2g.233767829G>ACA2663717128UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-20G>A (n.988-20G>A)
c.1000-20G>A (n.1000-20G>A)
c.994-20G>A (n.994-20G>A)
c.997-20G>A (n.997-20G>A)
c.193-20G>A (n.193-20G>A)
gnomAD v4
2g.233767829G>TCA2577284425UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-20G>T (n.988-20G>T)
c.1000-20G>T (n.1000-20G>T)
c.994-20G>T (n.994-20G>T)
c.997-20G>T (n.997-20G>T)
c.193-20G>T (n.193-20G>T)
2g.233767830C>ACA2663717129UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-19C>A (n.988-19C>A)
c.1000-19C>A (n.1000-19C>A)
c.994-19C>A (n.994-19C>A)
c.997-19C>A (n.997-19C>A)
c.193-19C>A (n.193-19C>A)
gnomAD v4
2g.233767832C=CA1335895054UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-17C= (n.988-17C=)
c.1000-17C= (n.1000-17C=)
c.994-17C= (n.994-17C=)
c.997-17C= (n.997-17C=)
c.193-17C= (n.193-17C=)
2g.233767832C>GCA1335895055UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-17C>G (n.988-17C>G)
c.1000-17C>G (n.1000-17C>G)
c.994-17C>G (n.994-17C>G)
c.997-17C>G (n.997-17C>G)
c.193-17C>G (n.193-17C>G)
dbSNP
2g.233767833T>ACA1335895057UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-16T>A (n.988-16T>A)
c.1000-16T>A (n.1000-16T>A)
c.994-16T>A (n.994-16T>A)
c.997-16T>A (n.997-16T>A)
c.193-16T>A (n.193-16T>A)
dbSNP
2g.233767833T>CCA2663717131UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-16T>C (n.988-16T>C)
c.1000-16T>C (n.1000-16T>C)
c.994-16T>C (n.994-16T>C)
c.997-16T>C (n.997-16T>C)
c.193-16T>C (n.193-16T>C)
gnomAD v4
2g.233767833T=CA1335895056UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-16T= (n.988-16T=)
c.1000-16T= (n.1000-16T=)
c.994-16T= (n.994-16T=)
c.997-16T= (n.997-16T=)
c.193-16T= (n.193-16T=)
2g.233767835T>CCA2663717133UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-14T>C (n.988-14T>C)
c.1000-14T>C (n.1000-14T>C)
c.994-14T>C (n.994-14T>C)
c.997-14T>C (n.997-14T>C)
c.193-14T>C (n.193-14T>C)
gnomAD v4
2g.233767838G>CCA1335895059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-11G>C (n.988-11G>C)
c.1000-11G>C (n.1000-11G>C)
c.994-11G>C (n.994-11G>C)
c.997-11G>C (n.997-11G>C)
c.193-11G>C (n.193-11G>C)
dbSNP
2g.233767838G=CA1335895058UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-11G= (n.988-11G=)
c.1000-11G= (n.1000-11G=)
c.994-11G= (n.994-11G=)
c.997-11G= (n.997-11G=)
c.193-11G= (n.193-11G=)
2g.233767839C>ACA2663717137UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-10C>A (n.988-10C>A)
c.1000-10C>A (n.1000-10C>A)
c.994-10C>A (n.994-10C>A)
c.997-10C>A (n.997-10C>A)
c.193-10C>A (n.193-10C>A)
gnomAD v4
2g.233767839C>GCA2577284426UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-10C>G (n.988-10C>G)
c.1000-10C>G (n.1000-10C>G)
c.994-10C>G (n.994-10C>G)
c.997-10C>G (n.997-10C>G)
c.193-10C>G (n.193-10C>G)
2g.233767839C>TCA2663717135UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-10C>T (n.988-10C>T)
c.1000-10C>T (n.1000-10C>T)
c.994-10C>T (n.994-10C>T)
c.997-10C>T (n.997-10C>T)
c.193-10C>T (n.193-10C>T)
gnomAD v4
2g.233767840C=CA1335895060UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-9C= (n.988-9C=)
c.1000-9C= (n.1000-9C=)
c.994-9C= (n.994-9C=)
c.997-9C= (n.997-9C=)
c.193-9C= (n.193-9C=)
2g.233767840C>TCA1335895061UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-9C>T (n.988-9C>T)
c.1000-9C>T (n.1000-9C>T)
c.994-9C>T (n.994-9C>T)
c.997-9C>T (n.997-9C>T)
c.193-9C>T (n.193-9C>T)
dbSNP gnomAD v4
2g.233767841C=CA1335895062UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-8C= (n.988-8C=)
c.1000-8C= (n.1000-8C=)
c.994-8C= (n.994-8C=)
c.997-8C= (n.997-8C=)
c.193-8C= (n.193-8C=)
2g.233767841C>TCA1335895063UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-8C>T (n.988-8C>T)
c.1000-8C>T (n.1000-8C>T)
c.994-8C>T (n.994-8C>T)
c.997-8C>T (n.997-8C>T)
c.193-8C>T (n.193-8C>T)
dbSNP
2g.233767844C=CA1335895064UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-5C= (n.988-5C=)
c.1000-5C= (n.1000-5C=)
c.994-5C= (n.994-5C=)
c.997-5C= (n.997-5C=)
c.193-5C= (n.193-5C=)
2g.233767844C>GCA766291041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-5C>G (n.988-5C>G)
c.1000-5C>G (n.1000-5C>G)
c.994-5C>G (n.994-5C>G)
c.997-5C>G (n.997-5C>G)
c.193-5C>G (n.193-5C>G)
dbSNP
2g.233767844C>TCA2577284427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-5C>T (n.988-5C>T)
c.1000-5C>T (n.1000-5C>T)
c.994-5C>T (n.994-5C>T)
c.997-5C>T (n.997-5C>T)
c.193-5C>T (n.193-5C>T)
2g.233767845C>TCA2754693424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-4C>T (n.988-4C>T)
c.1000-4C>T (n.1000-4C>T)
c.994-4C>T (n.994-4C>T)
c.997-4C>T (n.997-4C>T)
c.193-4C>T (n.193-4C>T)
2g.233767846C=CA1335895065UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-3C= (n.988-3C=)
c.1000-3C= (n.1000-3C=)
c.994-3C= (n.994-3C=)
c.997-3C= (n.997-3C=)
c.193-3C= (n.193-3C=)
2g.233767846C>GCA1043571179UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-3C>G (n.988-3C>G)
c.1000-3C>G (n.1000-3C>G)
c.994-3C>G (n.994-3C>G)
c.997-3C>G (n.997-3C>G)
c.193-3C>G (n.193-3C>G)
dbSNP gnomAD v3 gnomAD v4
2g.233767847A>CCA351072661UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-2A>C (n.988-2A>C)
c.1000-2A>C (n.1000-2A>C)
c.994-2A>C (n.994-2A>C)
c.997-2A>C (n.997-2A>C)
c.193-2A>C (n.193-2A>C)
2g.233767847A>GCA351072666UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-2A>G (n.988-2A>G)
c.1000-2A>G (n.1000-2A>G)
c.994-2A>G (n.994-2A>G)
c.997-2A>G (n.997-2A>G)
c.193-2A>G (n.193-2A>G)
2g.233767847A>TCA351072675UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-2A>T (n.988-2A>T)
c.1000-2A>T (n.1000-2A>T)
c.994-2A>T (n.994-2A>T)
c.997-2A>T (n.997-2A>T)
c.193-2A>T (n.193-2A>T)
2g.233767848G>ACA351072689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-1G>A (n.988-1G>A)
c.1000-1G>A (n.1000-1G>A)
c.994-1G>A (n.994-1G>A)
c.997-1G>A (n.997-1G>A)
c.193-1G>A (n.193-1G>A)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767848G>CCA351072687UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-1G>C (n.988-1G>C)
c.1000-1G>C (n.1000-1G>C)
c.994-1G>C (n.994-1G>C)
c.997-1G>C (n.997-1G>C)
c.193-1G>C (n.193-1G>C)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767848G>TCA351072682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-1G>T (n.988-1G>T)
c.1000-1G>T (n.1000-1G>T)
c.994-1G>T (n.994-1G>T)
c.997-1G>T (n.997-1G>T)
c.193-1G>T (n.193-1G>T)
2g.233767849G>ACA351072698UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988G>A (p.Val330Ile)
c.1000G>A (p.Val334Ile)
c.994G>A (p.Val332Ile)
c.997G>A (p.Val333Ile)
c.193G>A (p.Val65Ile)
ClinVar gnomAD v4
2g.233767849G>CCA351072703UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988G>C (p.Val330Leu)
c.1000G>C (p.Val334Leu)
c.994G>C (p.Val332Leu)
c.997G>C (p.Val333Leu)
c.193G>C (p.Val65Leu)
2g.233767849G>TCA351072718UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988G>T (p.Val330Phe)
c.1000G>T (p.Val334Phe)
c.994G>T (p.Val332Phe)
c.997G>T (p.Val333Phe)
c.193G>T (p.Val65Phe)
2g.233767850T>ACA351072723UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.989T>A (p.Val330Asp)
c.1001T>A (p.Val334Asp)
c.995T>A (p.Val332Asp)
c.998T>A (p.Val333Asp)
c.194T>A (p.Val65Asp)
2g.233767850T>CCA351072735UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.989T>C (p.Val330Ala)
c.1001T>C (p.Val334Ala)
c.995T>C (p.Val332Ala)
c.998T>C (p.Val333Ala)
c.194T>C (p.Val65Ala)
2g.233767850T>GCA351072737UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.989T>G (p.Val330Gly)
c.1001T>G (p.Val334Gly)
c.995T>G (p.Val332Gly)
c.998T>G (p.Val333Gly)
c.194T>G (p.Val65Gly)
2g.233767851C>ACA431857495UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.990C>A (p.Val330=)
c.1002C>A (p.Val334=)
c.996C>A (p.Val332=)
c.999C>A (p.Val333=)
c.195C>A (p.Val65=)
2g.233767851C=CA1335895066UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.990C= (p.Val330=)
c.1002C= (p.Val334=)
c.996C= (p.Val332=)
c.999C= (p.Val333=)
c.195C= (p.Val65=)
2g.233767851C>GCA2179961UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.990C>G (p.Val330=)
c.1002C>G (p.Val334=)
c.996C>G (p.Val332=)
c.999C>G (p.Val333=)
c.195C>G (p.Val65=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767851C>TCA431857498UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.990C>T (p.Val330=)
c.1002C>T (p.Val334=)
c.996C>T (p.Val332=)
c.999C>T (p.Val333=)
c.195C>T (p.Val65=)
2g.233767852C>ACA351072741UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.991C>A (p.Leu331Met)
c.1003C>A (p.Leu335Met)
c.997C>A (p.Leu333Met)
c.1000C>A (p.Leu334Met)
c.196C>A (p.Leu66Met)
2g.233767852C>GCA351072743UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.991C>G (p.Leu331Val)
c.1003C>G (p.Leu335Val)
c.997C>G (p.Leu333Val)
c.1000C>G (p.Leu334Val)
c.196C>G (p.Leu66Val)
2g.233767852C>TCA431857500UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.991C>T (p.Leu331=)
c.1003C>T (p.Leu335=)
c.997C>T (p.Leu333=)
c.1000C>T (p.Leu334=)
c.196C>T (p.Leu66=)
2g.233767853T>ACA2179962UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992T>A (p.Leu331Gln)
c.1004T>A (p.Leu335Gln)
c.998T>A (p.Leu333Gln)
c.1001T>A (p.Leu334Gln)
c.197T>A (p.Leu66Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767853T>CCA351072750UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992T>C (p.Leu331Pro)
c.1004T>C (p.Leu335Pro)
c.998T>C (p.Leu333Pro)
c.1001T>C (p.Leu334Pro)
c.197T>C (p.Leu66Pro)
gnomAD v4
2g.233767853T>GCA351072754UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992T>G (p.Leu331Arg)
c.1004T>G (p.Leu335Arg)
c.998T>G (p.Leu333Arg)
c.1001T>G (p.Leu334Arg)
c.197T>G (p.Leu66Arg)
2g.233767853T=CA1335895067UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992T= (p.Leu331=)
c.1004T= (p.Leu335=)
c.998T= (p.Leu333=)
c.1001T= (p.Leu334=)
c.197T= (p.Leu66=)
2g.233767853_233767854delinsTGCA1335895068UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992_993delinsTG (p.Leu331=)
c.1004_1005delinsTG (p.Leu335=)
c.998_999delinsTG (p.Leu333=)
c.1001_1002delinsTG (p.Leu334=)
c.197_198delinsTG (p.Leu66=)
2g.233767854delCA916801553UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.993del (p.Trp332GlyfsTer?)
c.1005del (p.Trp336GlyfsTer?)
c.999del (p.Trp334GlyfsTer?)
c.1002del (p.Trp335GlyfsTer?)
c.198del (p.Trp67GlyfsTer?)
ClinVar dbSNP gnomAD v4
2g.233767854G>ACA431857510UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.993G>A (p.Leu331=)
c.1005G>A (p.Leu335=)
c.999G>A (p.Leu333=)
c.1002G>A (p.Leu334=)
c.198G>A (p.Leu66=)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767854G>CCA431857512UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.993G>C (p.Leu331=)
c.1005G>C (p.Leu335=)
c.999G>C (p.Leu333=)
c.1002G>C (p.Leu334=)
c.198G>C (p.Leu66=)
2g.233767854G>TCA431857509UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.993G>T (p.Leu331=)
c.1005G>T (p.Leu335=)
c.999G>T (p.Leu333=)
c.1002G>T (p.Leu334=)
c.198G>T (p.Leu66=)
2g.233767855T>ACA351072767UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.994T>A (p.Trp332Arg)
c.1006T>A (p.Trp336Arg)
c.1000T>A (p.Trp334Arg)
c.1003T>A (p.Trp335Arg)
c.199T>A (p.Trp67Arg)
2g.233767855T>CCA351072763UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.994T>C (p.Trp332Arg)
c.1006T>C (p.Trp336Arg)
c.1000T>C (p.Trp334Arg)
c.1003T>C (p.Trp335Arg)
c.199T>C (p.Trp67Arg)
2g.233767855T>GCA351072761UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.994T>G (p.Trp332Gly)
c.1006T>G (p.Trp336Gly)
c.1000T>G (p.Trp334Gly)
c.1003T>G (p.Trp335Gly)
c.199T>G (p.Trp67Gly)
2g.233767856G>ACA351072771UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.995G>A (p.Trp332Ter)
c.1007G>A (p.Trp336Ter)
c.1001G>A (p.Trp334Ter)
c.1004G>A (p.Trp335Ter)
c.200G>A (p.Trp67Ter)
gnomAD v4
2g.233767856G>CCA351072774UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.995G>C (p.Trp332Ser)
c.1007G>C (p.Trp336Ser)
c.1001G>C (p.Trp334Ser)
c.1004G>C (p.Trp335Ser)
c.200G>C (p.Trp67Ser)
dbSNP gnomAD v2 gnomAD v4
2g.233767856G=CA1335895069UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.995G= (p.Trp332=)
c.1007G= (p.Trp336=)
c.1001G= (p.Trp334=)
c.1004G= (p.Trp335=)
c.200G= (p.Trp67=)
2g.233767856G>TCA351072780UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.995G>T (p.Trp332Leu)
c.1007G>T (p.Trp336Leu)
c.1001G>T (p.Trp334Leu)
c.1004G>T (p.Trp335Leu)
c.200G>T (p.Trp67Leu)
2g.233767857G>ACA351072783UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.996G>A (p.Trp332Ter)
c.1008G>A (p.Trp336Ter)
c.1002G>A (p.Trp334Ter)
c.1005G>A (p.Trp335Ter)
c.201G>A (p.Trp67Ter)
dbSNP gnomAD v3 gnomAD v4
2g.233767857G>CCA351072787UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.996G>C (p.Trp332Cys)
c.1008G>C (p.Trp336Cys)
c.1002G>C (p.Trp334Cys)
c.1005G>C (p.Trp335Cys)
c.201G>C (p.Trp67Cys)
gnomAD v4
2g.233767857G=CA1335895070UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.996G= (p.Trp332=)
c.1008G= (p.Trp336=)
c.1002G= (p.Trp334=)
c.1005G= (p.Trp335=)
c.201G= (p.Trp67=)
2g.233767857G>TCA351072792UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.996G>T (p.Trp332Cys)
c.1008G>T (p.Trp336Cys)
c.1002G>T (p.Trp334Cys)
c.1005G>T (p.Trp335Cys)
c.201G>T (p.Trp67Cys)
gnomAD v4
2g.233767858C>ACA431857529UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.997C>A (p.Arg333=)
c.1009C>A (p.Arg337=)
c.1003C>A (p.Arg335=)
c.1006C>A (p.Arg336=)
c.202C>A (p.Arg68=)
2g.233767858C=CA1335895071UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.997C= (p.Arg333=)
c.1009C= (p.Arg337=)
c.1003C= (p.Arg335=)
c.1006C= (p.Arg336=)
c.202C= (p.Arg68=)
2g.233767858C>GCA351072796UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.997C>G (p.Arg333Gly)
c.1009C>G (p.Arg337Gly)
c.1003C>G (p.Arg335Gly)
c.1006C>G (p.Arg336Gly)
c.202C>G (p.Arg68Gly)
2g.233767858C>TCA2179964UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.997C>T (p.Arg333Trp)
c.1009C>T (p.Arg337Trp)
c.1003C>T (p.Arg335Trp)
c.1006C>T (p.Arg336Trp)
c.202C>T (p.Arg68Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767859G>ACA2179965UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.998G>A (p.Arg333Gln)
c.1010G>A (p.Arg337Gln)
c.1004G>A (p.Arg335Gln)
c.1007G>A (p.Arg336Gln)
c.203G>A (p.Arg68Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767859G>CCA351072805UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.998G>C (p.Arg333Pro)
c.1010G>C (p.Arg337Pro)
c.1004G>C (p.Arg335Pro)
c.1007G>C (p.Arg336Pro)
c.203G>C (p.Arg68Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767859G=CA1335895072UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.998G= (p.Arg333=)
c.1010G= (p.Arg337=)
c.1004G= (p.Arg335=)
c.1007G= (p.Arg336=)
c.203G= (p.Arg68=)
2g.233767859G>TCA351072808UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.998G>T (p.Arg333Leu)
c.1010G>T (p.Arg337Leu)
c.1004G>T (p.Arg335Leu)
c.1007G>T (p.Arg336Leu)
c.203G>T (p.Arg68Leu)
ClinVar gnomAD v4
2g.233767860delCA2663717168UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.999del (p.Tyr334ThrfsTer29)
c.1011del (p.Tyr338ThrfsTer29)
c.1005del (p.Tyr336ThrfsTer29)
c.1008del (p.Tyr337ThrfsTer29)
c.204del (p.Tyr69ThrfsTer29)
gnomAD v4
2g.233767859_233767862dupCA2179963UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.998_1001dup (p.Tyr334Ter)
c.1010_1013dup (p.Tyr338Ter)
c.1004_1007dup (p.Tyr336Ter)
c.1007_1010dup (p.Tyr337Ter)
c.203_206dup (p.Tyr69Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767860G>ACA431857540UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.999G>A (p.Arg333=)
c.1011G>A (p.Arg337=)
c.1005G>A (p.Arg335=)
c.1008G>A (p.Arg336=)
c.204G>A (p.Arg68=)
2g.233767860G>CCA431857538UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.999G>C (p.Arg333=)
c.1011G>C (p.Arg337=)
c.1005G>C (p.Arg335=)
c.1008G>C (p.Arg336=)
c.204G>C (p.Arg68=)
gnomAD v4
2g.233767860G=CA1335895073UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.999G= (p.Arg333=)
c.1011G= (p.Arg337=)
c.1005G= (p.Arg335=)
c.1008G= (p.Arg336=)
c.204G= (p.Arg68=)
2g.233767860G>TCA431857541UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.999G>T (p.Arg333=)
c.1011G>T (p.Arg337=)
c.1005G>T (p.Arg335=)
c.1008G>T (p.Arg336=)
c.204G>T (p.Arg68=)
dbSNP
2g.233767861T>ACA351072819UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1000T>A (p.Tyr334Asn)
c.1012T>A (p.Tyr338Asn)
c.1006T>A (p.Tyr336Asn)
c.1009T>A (p.Tyr337Asn)
c.205T>A (p.Tyr69Asn)
2g.233767861T>CCA351072815UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1000T>C (p.Tyr334His)
c.1012T>C (p.Tyr338His)
c.1006T>C (p.Tyr336His)
c.1009T>C (p.Tyr337His)
c.205T>C (p.Tyr69His)
gnomAD v4
2g.233767861T>GCA351072811UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1000T>G (p.Tyr334Asp)
c.1012T>G (p.Tyr338Asp)
c.1006T>G (p.Tyr336Asp)
c.1009T>G (p.Tyr337Asp)
c.205T>G (p.Tyr69Asp)
2g.233767862A=CA1335895074UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1001A= (p.Tyr334=)
c.1013A= (p.Tyr338=)
c.1007A= (p.Tyr336=)
c.1010A= (p.Tyr337=)
c.206A= (p.Tyr69=)
2g.233767862A>CCA351072823UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1001A>C (p.Tyr334Ser)
c.1013A>C (p.Tyr338Ser)
c.1007A>C (p.Tyr336Ser)
c.1010A>C (p.Tyr337Ser)
c.206A>C (p.Tyr69Ser)
2g.233767862A>GCA351072836UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1001A>G (p.Tyr334Cys)
c.1013A>G (p.Tyr338Cys)
c.1007A>G (p.Tyr336Cys)
c.1010A>G (p.Tyr337Cys)
c.206A>G (p.Tyr69Cys)
dbSNP gnomAD v2
2g.233767862A>TCA351072824UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1001A>T (p.Tyr334Phe)
c.1013A>T (p.Tyr338Phe)
c.1007A>T (p.Tyr336Phe)
c.1010A>T (p.Tyr337Phe)
c.206A>T (p.Tyr69Phe)
2g.233767863C>ACA351072838UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1002C>A (p.Tyr334Ter)
c.1014C>A (p.Tyr338Ter)
c.1008C>A (p.Tyr336Ter)
c.1011C>A (p.Tyr337Ter)
c.207C>A (p.Tyr69Ter)
2g.233767863C>GCA351072840UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1002C>G (p.Tyr334Ter)
c.1014C>G (p.Tyr338Ter)
c.1008C>G (p.Tyr336Ter)
c.1011C>G (p.Tyr337Ter)
c.207C>G (p.Tyr69Ter)
2g.233767863C>TCA431857548UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1002C>T (p.Tyr334=)
c.1014C>T (p.Tyr338=)
c.1008C>T (p.Tyr336=)
c.1011C>T (p.Tyr337=)
c.207C>T (p.Tyr69=)
2g.233767864A=CA1335895075UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1003A= (p.Thr335=)
c.1015A= (p.Thr339=)
c.1009A= (p.Thr337=)
c.1012A= (p.Thr338=)
c.208A= (p.Thr70=)
2g.233767864A>CCA351072843UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1003A>C (p.Thr335Pro)
c.1015A>C (p.Thr339Pro)
c.1009A>C (p.Thr337Pro)
c.1012A>C (p.Thr338Pro)
c.208A>C (p.Thr70Pro)
2g.233767864A>GCA67595775UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1003A>G (p.Thr335Ala)
c.1015A>G (p.Thr339Ala)
c.1009A>G (p.Thr337Ala)
c.1012A>G (p.Thr338Ala)
c.208A>G (p.Thr70Ala)
dbSNP gnomAD v4
2g.233767864A>TCA351072856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1003A>T (p.Thr335Ser)
c.1015A>T (p.Thr339Ser)
c.1009A>T (p.Thr337Ser)
c.1012A>T (p.Thr338Ser)
c.208A>T (p.Thr70Ser)
gnomAD v4
2g.233767865C>ACA351072858UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1004C>A (p.Thr335Asn)
c.1016C>A (p.Thr339Asn)
c.1010C>A (p.Thr337Asn)
c.1013C>A (p.Thr338Asn)
c.209C>A (p.Thr70Asn)
2g.233767865C>GCA351072860UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1004C>G (p.Thr335Ser)
c.1016C>G (p.Thr339Ser)
c.1010C>G (p.Thr337Ser)
c.1013C>G (p.Thr338Ser)
c.209C>G (p.Thr70Ser)
2g.233767865C>TCA351072863UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1004C>T (p.Thr335Ile)
c.1016C>T (p.Thr339Ile)
c.1010C>T (p.Thr337Ile)
c.1013C>T (p.Thr338Ile)
c.209C>T (p.Thr70Ile)
2g.233767866T>ACA431857560UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1005T>A (p.Thr335=)
c.1017T>A (p.Thr339=)
c.1011T>A (p.Thr337=)
c.1014T>A (p.Thr338=)
c.210T>A (p.Thr70=)
2g.233767866T>CCA431857563UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1005T>C (p.Thr335=)
c.1017T>C (p.Thr339=)
c.1011T>C (p.Thr337=)
c.1014T>C (p.Thr338=)
c.210T>C (p.Thr70=)
2g.233767866T>GCA67595776UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1005T>G (p.Thr335=)
c.1017T>G (p.Thr339=)
c.1011T>G (p.Thr337=)
c.1014T>G (p.Thr338=)
c.210T>G (p.Thr70=)
dbSNP gnomAD v4
2g.233767866T=CA1335895076UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1005T= (p.Thr335=)
c.1017T= (p.Thr339=)
c.1011T= (p.Thr337=)
c.1014T= (p.Thr338=)
c.210T= (p.Thr70=)
2g.233767867G>ACA351072874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1006G>A (p.Gly336Arg)
c.1018G>A (p.Gly340Arg)
c.1012G>A (p.Gly338Arg)
c.1015G>A (p.Gly339Arg)
c.211G>A (p.Gly71Arg)
gnomAD v4
2g.233767867G>CCA351072875UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1006G>C (p.Gly336Arg)
c.1018G>C (p.Gly340Arg)
c.1012G>C (p.Gly338Arg)
c.1015G>C (p.Gly339Arg)
c.211G>C (p.Gly71Arg)
2g.233767867G>TCA351072876UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1006G>T (p.Gly336Ter)
c.1018G>T (p.Gly340Ter)
c.1012G>T (p.Gly338Ter)
c.1015G>T (p.Gly339Ter)
c.211G>T (p.Gly71Ter)
2g.233767868G>ACA351072879UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1007G>A (p.Gly336Glu)
c.1019G>A (p.Gly340Glu)
c.1013G>A (p.Gly338Glu)
c.1016G>A (p.Gly339Glu)
c.212G>A (p.Gly71Glu)
gnomAD v4
2g.233767868G>CCA351072877UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1007G>C (p.Gly336Ala)
c.1019G>C (p.Gly340Ala)
c.1013G>C (p.Gly338Ala)
c.1016G>C (p.Gly339Ala)
c.212G>C (p.Gly71Ala)
2g.233767868G>TCA351072878UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1007G>T (p.Gly336Val)
c.1019G>T (p.Gly340Val)
c.1013G>T (p.Gly338Val)
c.1016G>T (p.Gly339Val)
c.212G>T (p.Gly71Val)
2g.233767869A>CCA431857571UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1008A>C (p.Gly336=)
c.1020A>C (p.Gly340=)
c.1014A>C (p.Gly338=)
c.1017A>C (p.Gly339=)
c.213A>C (p.Gly71=)
2g.233767869A>GCA431857576UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1008A>G (p.Gly336=)
c.1020A>G (p.Gly340=)
c.1014A>G (p.Gly338=)
c.1017A>G (p.Gly339=)
c.213A>G (p.Gly71=)
2g.233767869A>TCA431857573UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1008A>T (p.Gly336=)
c.1020A>T (p.Gly340=)
c.1014A>T (p.Gly338=)
c.1017A>T (p.Gly339=)
c.213A>T (p.Gly71=)
2g.233767870A>CCA351072881UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1009A>C (p.Thr337Pro)
c.1021A>C (p.Thr341Pro)
c.1015A>C (p.Thr339Pro)
c.1018A>C (p.Thr340Pro)
c.214A>C (p.Thr72Pro)
2g.233767870A>GCA351072882UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1009A>G (p.Thr337Ala)
c.1021A>G (p.Thr341Ala)
c.1015A>G (p.Thr339Ala)
c.1018A>G (p.Thr340Ala)
c.214A>G (p.Thr72Ala)
2g.233767870A>TCA351072884UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1009A>T (p.Thr337Ser)
c.1021A>T (p.Thr341Ser)
c.1015A>T (p.Thr339Ser)
c.1018A>T (p.Thr340Ser)
c.214A>T (p.Thr72Ser)
2g.233767871C>ACA351072886UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1010C>A (p.Thr337Asn)
c.1022C>A (p.Thr341Asn)
c.1016C>A (p.Thr339Asn)
c.1019C>A (p.Thr340Asn)
c.215C>A (p.Thr72Asn)
2g.233767871C>GCA351072898UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1010C>G (p.Thr337Ser)
c.1022C>G (p.Thr341Ser)
c.1016C>G (p.Thr339Ser)
c.1019C>G (p.Thr340Ser)
c.215C>G (p.Thr72Ser)
gnomAD v4
2g.233767871C>TCA351072900UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1010C>T (p.Thr337Ile)
c.1022C>T (p.Thr341Ile)
c.1016C>T (p.Thr339Ile)
c.1019C>T (p.Thr340Ile)
c.215C>T (p.Thr72Ile)
2g.233767872C>ACA431857585UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1011C>A (p.Thr337=)
c.1023C>A (p.Thr341=)
c.1017C>A (p.Thr339=)
c.1020C>A (p.Thr340=)
c.216C>A (p.Thr72=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767872C=CA1335895077UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1011C= (p.Thr337=)
c.1023C= (p.Thr341=)
c.1017C= (p.Thr339=)
c.1020C= (p.Thr340=)
c.216C= (p.Thr72=)
2g.233767872C>GCA67595781UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1011C>G (p.Thr337=)
c.1023C>G (p.Thr341=)
c.1017C>G (p.Thr339=)
c.1020C>G (p.Thr340=)
c.216C>G (p.Thr72=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767872C>TCA431857587UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1011C>T (p.Thr337=)
c.1023C>T (p.Thr341=)
c.1017C>T (p.Thr339=)
c.1020C>T (p.Thr340=)
c.216C>T (p.Thr72=)
2g.233767873C>ACA431857591UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1012C>A (p.Arg338=)
c.1024C>A (p.Arg342=)
c.1018C>A (p.Arg340=)
c.1021C>A (p.Arg341=)
c.217C>A (p.Arg73=)
2g.233767873C=CA1335895078UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1012C= (p.Arg338=)
c.1024C= (p.Arg342=)
c.1018C= (p.Arg340=)
c.1021C= (p.Arg341=)
c.217C= (p.Arg73=)
2g.233767873C>GCA351072904UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1012C>G (p.Arg338Gly)
c.1024C>G (p.Arg342Gly)
c.1018C>G (p.Arg340Gly)
c.1021C>G (p.Arg341Gly)
c.217C>G (p.Arg73Gly)
dbSNP gnomAD v2 gnomAD v4
2g.233767873C>TCA122029UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1012C>T (p.Arg338Ter)
c.1024C>T (p.Arg342Ter)
c.1018C>T (p.Arg340Ter)
c.1021C>T (p.Arg341Ter)
c.217C>T (p.Arg73Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767874G>ACA2179966UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013G>A (p.Arg338Gln)
c.1025G>A (p.Arg342Gln)
c.1019G>A (p.Arg340Gln)
c.1022G>A (p.Arg341Gln)
c.218G>A (p.Arg73Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767874G>CCA351072912UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013G>C (p.Arg338Pro)
c.1025G>C (p.Arg342Pro)
c.1019G>C (p.Arg340Pro)
c.1022G>C (p.Arg341Pro)
c.218G>C (p.Arg73Pro)
2g.233767874G=CA1335895079UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013G= (p.Arg338=)
c.1025G= (p.Arg342=)
c.1019G= (p.Arg340=)
c.1022G= (p.Arg341=)
c.218G= (p.Arg73=)
2g.233767874G>TCA351072914UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013G>T (p.Arg338Leu)
c.1025G>T (p.Arg342Leu)
c.1019G>T (p.Arg340Leu)
c.1022G>T (p.Arg341Leu)
c.218G>T (p.Arg73Leu)
2g.233767874_233767877delinsGACCCA1335895080UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013_1016delinsGACC (p.Arg338=)
c.1025_1028delinsGACC (p.Arg342=)
c.1019_1022delinsGACC (p.Arg340=)
c.1022_1025delinsGACC (p.Arg341=)
c.218_221delinsGACC (p.Arg73=)
2g.233767875A>CCA431857602UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1014A>C (p.Arg338=)
c.1026A>C (p.Arg342=)
c.1020A>C (p.Arg340=)
c.1023A>C (p.Arg341=)
c.219A>C (p.Arg73=)
2g.233767875A>GCA431857600UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1014A>G (p.Arg338=)
c.1026A>G (p.Arg342=)
c.1020A>G (p.Arg340=)
c.1023A>G (p.Arg341=)
c.219A>G (p.Arg73=)
2g.233767875A>TCA431857598UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1014A>T (p.Arg338=)
c.1026A>T (p.Arg342=)
c.1020A>T (p.Arg340=)
c.1023A>T (p.Arg341=)
c.219A>T (p.Arg73=)
2g.233767876_233767878delCA540311596UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015_1017del (p.Pro339del)
c.1027_1029del (p.Pro343del)
c.1021_1023del (p.Pro341del)
c.1024_1026del (p.Pro342del)
c.220_222del (p.Pro74del)
dbSNP gnomAD v2
2g.233767876C>ACA67595798UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015C>A (p.Pro339Thr)
c.1027C>A (p.Pro343Thr)
c.1021C>A (p.Pro341Thr)
c.1024C>A (p.Pro342Thr)
c.220C>A (p.Pro74Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767876C=CA1335895081UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015C= (p.Pro339=)
c.1027C= (p.Pro343=)
c.1021C= (p.Pro341=)
c.1024C= (p.Pro342=)
c.220C= (p.Pro74=)
2g.233767876C>GCA351072921UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015C>G (p.Pro339Ala)
c.1027C>G (p.Pro343Ala)
c.1021C>G (p.Pro341Ala)
c.1024C>G (p.Pro342Ala)
c.220C>G (p.Pro74Ala)
2g.233767876C>TCA351072916UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015C>T (p.Pro339Ser)
c.1027C>T (p.Pro343Ser)
c.1021C>T (p.Pro341Ser)
c.1024C>T (p.Pro342Ser)
c.220C>T (p.Pro74Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233767877C>ACA351072926UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1016C>A (p.Pro339Gln)
c.1028C>A (p.Pro343Gln)
c.1022C>A (p.Pro341Gln)
c.1025C>A (p.Pro342Gln)
c.221C>A (p.Pro74Gln)
2g.233767877C>GCA351072929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1016C>G (p.Pro339Arg)
c.1028C>G (p.Pro343Arg)
c.1022C>G (p.Pro341Arg)
c.1025C>G (p.Pro342Arg)
c.221C>G (p.Pro74Arg)
2g.233767877C>TCA351072941UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1016C>T (p.Pro339Leu)
c.1028C>T (p.Pro343Leu)
c.1022C>T (p.Pro341Leu)
c.1025C>T (p.Pro342Leu)
c.221C>T (p.Pro74Leu)
2g.233767878delCA2663717204UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017del (p.Ser340ArgfsTer23)
c.1029del (p.Ser344ArgfsTer23)
c.1023del (p.Ser342ArgfsTer23)
c.1026del (p.Ser343ArgfsTer23)
c.222del (p.Ser75ArgfsTer23)
gnomAD v4
2g.233767878A=CA1335895082UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017A= (p.Pro339=)
c.1029A= (p.Pro343=)
c.1023A= (p.Pro341=)
c.1026A= (p.Pro342=)
c.222A= (p.Pro74=)
2g.233767878A>CCA431857618UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017A>C (p.Pro339=)
c.1029A>C (p.Pro343=)
c.1023A>C (p.Pro341=)
c.1026A>C (p.Pro342=)
c.222A>C (p.Pro74=)
2g.233767878A>GCA431857616UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017A>G (p.Pro339=)
c.1029A>G (p.Pro343=)
c.1023A>G (p.Pro341=)
c.1026A>G (p.Pro342=)
c.222A>G (p.Pro74=)
dbSNP gnomAD v3 gnomAD v4
2g.233767878A>TCA2179967UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017A>T (p.Pro339=)
c.1029A>T (p.Pro343=)
c.1023A>T (p.Pro341=)
c.1026A>T (p.Pro342=)
c.222A>T (p.Pro74=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767879T>ACA351072948UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1018T>A (p.Ser340Thr)
c.1030T>A (p.Ser344Thr)
c.1024T>A (p.Ser342Thr)
c.1027T>A (p.Ser343Thr)
c.223T>A (p.Ser75Thr)
2g.233767879T>CCA351072950UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1018T>C (p.Ser340Pro)
c.1030T>C (p.Ser344Pro)
c.1024T>C (p.Ser342Pro)
c.1027T>C (p.Ser343Pro)
c.223T>C (p.Ser75Pro)
gnomAD v4
2g.233767879T>GCA351072975UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1018T>G (p.Ser340Ala)
c.1030T>G (p.Ser344Ala)
c.1024T>G (p.Ser342Ala)
c.1027T>G (p.Ser343Ala)
c.223T>G (p.Ser75Ala)
2g.233767880C>ACA2179969UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1019C>A (p.Ser340Ter)
c.1031C>A (p.Ser344Ter)
c.1025C>A (p.Ser342Ter)
c.1028C>A (p.Ser343Ter)
c.224C>A (p.Ser75Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767880C=CA1335895083UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1019C= (p.Ser340=)
c.1031C= (p.Ser344=)
c.1025C= (p.Ser342=)
c.1028C= (p.Ser343=)
c.224C= (p.Ser75=)
2g.233767880C>GCA351072986UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1019C>G (p.Ser340Trp)
c.1031C>G (p.Ser344Trp)
c.1025C>G (p.Ser342Trp)
c.1028C>G (p.Ser343Trp)
c.224C>G (p.Ser75Trp)
dbSNP gnomAD v2 gnomAD v4
2g.233767880C>TCA2179968UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1019C>T (p.Ser340Leu)
c.1031C>T (p.Ser344Leu)
c.1025C>T (p.Ser342Leu)
c.1028C>T (p.Ser343Leu)
c.224C>T (p.Ser75Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767881G>ACA431857631UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1020G>A (p.Ser340=)
c.1032G>A (p.Ser344=)
c.1026G>A (p.Ser342=)
c.1029G>A (p.Ser343=)
c.225G>A (p.Ser75=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767881G>CCA431857633UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1020G>C (p.Ser340=)
c.1032G>C (p.Ser344=)
c.1026G>C (p.Ser342=)
c.1029G>C (p.Ser343=)
c.225G>C (p.Ser75=)
2g.233767881G=CA1335895084UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1020G= (p.Ser340=)
c.1032G= (p.Ser344=)
c.1026G= (p.Ser342=)
c.1029G= (p.Ser343=)
c.225G= (p.Ser75=)
2g.233767881G>TCA431857630UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1020G>T (p.Ser340=)
c.1032G>T (p.Ser344=)
c.1026G>T (p.Ser342=)
c.1029G>T (p.Ser343=)
c.225G>T (p.Ser75=)
dbSNP
2g.233767882A>CCA351073009UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1021A>C (p.Asn341His)
c.1033A>C (p.Asn345His)
c.1027A>C (p.Asn343His)
c.1030A>C (p.Asn344His)
c.226A>C (p.Asn76His)
2g.233767882A>GCA351073014UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1021A>G (p.Asn341Asp)
c.1033A>G (p.Asn345Asp)
c.1027A>G (p.Asn343Asp)
c.1030A>G (p.Asn344Asp)
c.226A>G (p.Asn76Asp)
2g.233767882A>TCA351073017UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1021A>T (p.Asn341Tyr)
c.1033A>T (p.Asn345Tyr)
c.1027A>T (p.Asn343Tyr)
c.1030A>T (p.Asn344Tyr)
c.226A>T (p.Asn76Tyr)

Number of alleles fetched