| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432063C>T | CA345146753 | ACTA1 | c.739G>A (p.Gly247Arg) c.604G>A (p.Gly202Arg) c.480-201G>A (n.480-201G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432063C>G | CA16603588 | ACTA1 | c.739G>C (p.Gly247Arg) c.604G>C (p.Gly202Arg) c.480-201G>C (n.480-201G>C) | ClinVar dbSNP |