| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63478093C>T | CA8699037 | ACE | c.412C>T (p.Gln138Ter) n.437C>T n.601C>T n.446C>T c.-44C>T (n.-44C>T) c.177C>T (p.Gly59=) c.-203C>T (n.-203C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63478093C= | CA2269940304 | ACE | c.412C= (p.Gln138=) n.437C= n.601C= n.446C= c.-44C= (n.-44C=) c.177C= (p.Gly59=) c.-203C= (n.-203C=) | dbSNP |