| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432596G>C | CA258142 | ACTA1 | c.414C>G (p.Ile138Met) c.279C>G (p.Ile93Met) | ClinVar dbSNP |
| 1 | g.229432596G= | CA1141581378 | ACTA1 | c.414C= (p.Ile138=) c.279C= (p.Ile93=) | dbSNP |
| 1 | g.229432596G>A | CA423755082 | ACTA1 | c.414C>T (p.Ile138=) c.279C>T (p.Ile93=) | dbSNP gnomAD v4 COSMIC |