| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233772309C>T | CA245929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C>T (p.Pro448Leu) c.1355C>T (p.Pro452Leu) c.1349C>T (p.Pro450Leu) c.1352C>T (p.Pro451Leu) c.548C>T (p.Pro183Leu) c.*151C>T (n.*151C>T) c.1489C>T (n.1489C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233772309C= | CA1335897017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C= (p.Pro448=) c.1355C= (p.Pro452=) c.1349C= (p.Pro450=) c.1352C= (p.Pro451=) c.548C= (p.Pro183=) c.*151C= (n.*151C=) c.1489C= (n.1489C=) | dbSNP |