| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432333G>A | CA345148281 | ACTA1 | c.553C>T (p.Arg185Cys) c.418C>T (p.Arg140Cys) c.479+74C>T (n.479+74C>T) | ClinVar dbSNP |
| 1 | g.229432333G>T | CA16617084 | ACTA1 | c.553C>A (p.Arg185Ser) c.418C>A (p.Arg140Ser) c.479+74C>A (n.479+74C>A) | ClinVar dbSNP |
| 1 | g.229432333G= | CA1226125747 | ACTA1 | c.553C= (p.Arg185=) c.418C= (p.Arg140=) c.479+74C= (n.479+74C=) | dbSNP |