| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233760973C>T | CA2179870 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6061C>T (n.856-6061C>T) c.868-6061C>T (n.868-6061C>T) c.862-6061C>T (n.862-6061C>T) c.686C>T (p.Pro229Leu) c.61-6061C>T (n.61-6061C>T) c.442-6061C>T (n.442-6061C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760973C>A | CA122068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6061C>A (n.856-6061C>A) c.868-6061C>A (n.868-6061C>A) c.862-6061C>A (n.862-6061C>A) c.686C>A (p.Pro229Gln) c.61-6061C>A (n.61-6061C>A) c.442-6061C>A (n.442-6061C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |