| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.8737163T>A | CA16609545 | PLCB1 | c.2179T>A (p.Trp727Arg) n.2250T>A n.2043T>A c.1876T>A (p.Trp626Arg) c.136T>A (p.Trp46Arg) c.1401T>A n.1331T>A c.1939T>A (p.Trp647Arg) c.1963T>A (p.Trp655Arg) c.406T>A (p.Trp136Arg) | ClinVar dbSNP |
| 20 | g.8737163T= | CA2349026959 | PLCB1 | c.2179T= (p.Trp727=) n.2250T= n.2043T= c.1876T= (p.Trp626=) c.136T= (p.Trp46=) c.1401T= n.1331T= c.1939T= (p.Trp647=) c.1963T= (p.Trp655=) c.406T= (p.Trp136=) | dbSNP |