| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133947292C>A | CA130096 | SLCO2A1 | c.1259G>T (p.Cys420Phe) n.839G>T c.1105+1244G>T (n.1105+1244G>T) c.1031G>T (p.Cys344Phe) c.755G>T (p.Cys252Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133947292C= | CA1403219671 | SLCO2A1 | c.1259G= (p.Cys420=) n.839G= c.1105+1244G= (n.1105+1244G=) c.1031G= (p.Cys344=) c.755G= (p.Cys252=) | dbSNP |