| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432134A>G | CA341497 | ACTA1 | c.668T>C (p.Leu223Pro) c.533T>C (p.Leu178Pro) c.480-272T>C (n.480-272T>C) | ClinVar dbSNP |
| 1 | g.229432134A= | CA1141581376 | ACTA1 | c.668T= (p.Leu223=) c.533T= (p.Leu178=) c.480-272T= (n.480-272T=) | dbSNP |