| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63483172C>T | CA143699 | ACE | c.1486C>T (p.Arg496Ter) c.*885C>T (n.*885C>T) n.1377-288C>T c.937C>T (p.Arg313Ter) c.919C>T (p.Arg307Ter) c.634C>T (p.Arg212Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63483172C= | CA2269942974 | ACE | c.1486C= (p.Arg496=) c.*885C= (n.*885C=) n.1377-288C= c.937C= (p.Arg313=) c.919C= (p.Arg307=) c.634C= (p.Arg212=) | dbSNP |