| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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= | 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=) | dbSNP |