| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432126C>G | CA16603575 | ACTA1 | c.676G>C (p.Glu226Gln) c.541G>C (p.Glu181Gln) c.480-264G>C (n.480-264G>C) | ClinVar dbSNP |
| 1 | g.229432126C>T | CA345147129 | ACTA1 | c.676G>A (p.Glu226Lys) c.541G>A (p.Glu181Lys) c.480-264G>A (n.480-264G>A) | ClinVar dbSNP |