Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233761127C>G | CA67590557 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.840C>G (p.Cys280Trp) c.862-5907C>G (p.=) c.868-5907C>G (p.=) c.856-5907C>G (p.=) n.856-5907C>G (p.=) n.868-5907C>G (p.=) c.61-5907C>G (p.=) n.840C>G (p.Cys280Trp) n.442-5907C>G (p.=) | dbSNP |
2 | g.233761127C>A | CA122065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.840C>A (p.Cys280Ter) c.862-5907C>A (p.=) c.868-5907C>A (p.=) c.856-5907C>A (p.=) n.856-5907C>A (p.=) n.868-5907C>A (p.=) c.61-5907C>A (p.=) n.840C>A (p.Cys280Ter) n.442-5907C>A (p.=) | ClinVar dbSNP |