| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233767922A>C | CA351073376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1061A>C (p.Gln354Pro) c.1073A>C (p.Gln358Pro) c.1067A>C (p.Gln356Pro) c.1070A>C (p.Gln357Pro) c.266A>C (p.Gln89Pro) | dbSNP |
| 2 | g.233767922A>G | CA122091 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1061A>G (p.Gln354Arg) c.1073A>G (p.Gln358Arg) c.1067A>G (p.Gln356Arg) c.1070A>G (p.Gln357Arg) c.266A>G (p.Gln89Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |