| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233760331T>C | CA351065283 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6703T>C (n.856-6703T>C) c.868-6703T>C (n.868-6703T>C) c.862-6703T>C (n.862-6703T>C) c.44T>C (p.Leu15Pro) c.61-6703T>C (n.61-6703T>C) c.442-6703T>C (n.442-6703T>C) | dbSNP |
| 2 | g.233760331T>G | CA122115 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6703T>G (n.856-6703T>G) c.868-6703T>G (n.868-6703T>G) c.862-6703T>G (n.862-6703T>G) c.44T>G (p.Leu15Arg) c.61-6703T>G (n.61-6703T>G) c.442-6703T>G (n.442-6703T>G) | ClinVar dbSNP gnomAD v4 |