| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63483494C>T | CA8699590 | ACE | c.1522C>T (p.Arg508Ter) c.*921C>T (n.*921C>T) n.1411C>T c.973C>T (p.Arg325Ter) c.955C>T (p.Arg319Ter) c.670C>T (p.Arg224Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63483494C= | CA2269943149 | ACE | c.1522C= (p.Arg508=) c.*921C= (n.*921C=) n.1411C= c.973C= (p.Arg325=) c.955C= (p.Arg319=) c.670C= (p.Arg224=) | dbSNP |
| 17 | g.63483494C>G | CA400550506 | ACE | c.1522C>G (p.Arg508Gly) c.*921C>G (n.*921C>G) n.1411C>G c.973C>G (p.Arg325Gly) c.955C>G (p.Arg319Gly) c.670C>G (p.Arg224Gly) | dbSNP gnomAD v4 |