| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63488713C>T | CA143701 | ACE | c.2371C>T (p.Arg791Ter) c.649C>T (p.Arg217Ter) c.*441C>T (n.*441C>T) c.630C>T (n.630C>T) c.*100C>T (n.*100C>T) c.*291C>T (n.*291C>T) c.139C>T (p.Arg47Ter) n.317C>T c.1822C>T (p.Arg608Ter) c.709C>T (p.Arg237Ter) c.1804C>T (p.Arg602Ter) c.1519C>T (p.Arg507Ter) c.301C>T (p.Arg101Ter) n.749C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.63488713C= | CA2269945957 | ACE | c.2371C= (p.Arg791=) c.649C= (p.Arg217=) c.*441C= (n.*441C=) c.630C= (n.630C=) c.*100C= (n.*100C=) c.*291C= (n.*291C=) c.139C= (p.Arg47=) n.317C= c.1822C= (p.Arg608=) c.709C= (p.Arg237=) c.1804C= (p.Arg602=) c.1519C= (p.Arg507=) c.301C= (p.Arg101=) n.749C= | dbSNP |
| 17 | g.63488713C>A | CA501186969 | ACE | c.2371C>A (p.Arg791=) c.649C>A (p.Arg217=) c.*441C>A (n.*441C>A) c.630C>A (n.630C>A) c.*100C>A (n.*100C>A) c.*291C>A (n.*291C>A) c.139C>A (p.Arg47=) n.317C>A c.1822C>A (p.Arg608=) c.709C>A (p.Arg237=) c.1804C>A (p.Arg602=) c.1519C>A (p.Arg507=) c.301C>A (p.Arg101=) n.749C>A | dbSNP |