| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233760961T>G | CA173883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6073T>G (n.856-6073T>G) c.868-6073T>G (n.868-6073T>G) c.862-6073T>G (n.862-6073T>G) c.674T>G (p.Val225Gly) c.61-6073T>G (n.61-6073T>G) c.442-6073T>G (n.442-6073T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760961T= | CA1335889768 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6073T= (n.856-6073T=) c.868-6073T= (n.868-6073T=) c.862-6073T= (n.862-6073T=) c.674T= (p.Val225=) c.61-6073T= (n.61-6073T=) c.442-6073T= (n.442-6073T=) | dbSNP |