| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432270C>A | CA345147691 | ACTA1 | c.616G>T (p.Ala206Ser) c.481G>T (p.Ala161Ser) c.479+137G>T (n.479+137G>T) | dbSNP |
| 1 | g.229432270C>T | CA16603572 | ACTA1 | c.616G>A (p.Ala206Thr) c.481G>A (p.Ala161Thr) c.479+137G>A (n.479+137G>A) | ClinVar dbSNP |