| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63482562C>T | CA8699442 | ACE | c.1215C>T (p.Pro405=) c.*614C>T (n.*614C>T) n.1249C>T c.666C>T (p.Pro222=) c.648C>T (p.Pro216=) c.363C>T (p.Pro121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63482562C= | CA2269942638 | ACE | c.1215C= (p.Pro405=) c.*614C= (n.*614C=) n.1249C= c.666C= (p.Pro222=) c.648C= (p.Pro216=) c.363C= (p.Pro121=) | dbSNP |