| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432020T>A | CA258136 | ACTA1 | c.782A>T (p.Glu261Val) c.647A>T (p.Glu216Val) c.480-158A>T (n.480-158A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432020T>C | CA345146516 | ACTA1 | c.782A>G (p.Glu261Gly) c.647A>G (p.Glu216Gly) c.480-158A>G (n.480-158A>G) | dbSNP gnomAD v4 |
| 1 | g.229432020T= | CA1141581375 | ACTA1 | c.782A= (p.Glu261=) c.647A= (p.Glu216=) c.480-158A= (n.480-158A=) | dbSNP |