| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94254256C>T | CA115492 | PLCE1 | c.2422C>T (p.Arg808Ter) c.3346C>T (p.Arg1116Ter) n.3676C>T c.2320C>T (p.Arg774Ter) c.1751C>T c.1423C>T (p.Arg475Ter) c.2573C>T c.2191C>T (p.Arg731Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94254256C>G | CA5612848 | PLCE1 | c.2422C>G (p.Arg808Gly) c.3346C>G (p.Arg1116Gly) n.3676C>G c.2320C>G (p.Arg774Gly) c.1751C>G c.1423C>G (p.Arg475Gly) c.2573C>G c.2191C>G (p.Arg731Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94254256C= | CA1928971742 | PLCE1 | c.2422C= (p.Arg808=) c.3346C= (p.Arg1116=) n.3676C= c.2320C= (p.Arg774=) c.1751C= c.1423C= (p.Arg475=) c.2573C= c.2191C= (p.Arg731=) | dbSNP |