| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94254256C>G | CA5612848 | PLCE1 | c.2422C>G (p.Arg808Gly) c.3346C>G (p.Arg1116Gly) c.2191C>G (p.Arg731Gly) n.2422C>G (p.Arg808Gly) | dbSNP ExAC gnomAD |
| 10 | g.94254256C>T | CA115492 | PLCE1 | c.2422C>T (p.Arg808Ter) c.3346C>T (p.Arg1116Ter) c.2191C>T (p.Arg731Ter) n.2422C>T (p.Arg808Ter) | ClinVar dbSNP gnomAD |