| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233761127C>A | CA122065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5907C>A (n.856-5907C>A) c.868-5907C>A (n.868-5907C>A) c.862-5907C>A (n.862-5907C>A) c.840C>A (p.Cys280Ter) c.61-5907C>A (n.61-5907C>A) c.442-5907C>A (n.442-5907C>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.233761127C>G | CA67590557 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5907C>G (n.856-5907C>G) c.868-5907C>G (n.868-5907C>G) c.862-5907C>G (n.862-5907C>G) c.840C>G (p.Cys280Trp) c.61-5907C>G (n.61-5907C>G) c.442-5907C>G (n.442-5907C>G) | dbSNP |