| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432426C>T | CA345148945 | ACTA1 | c.460G>A (p.Val154Met) c.325G>A (p.Val109Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.229432426C>A | CA1442851 | ACTA1 | c.460G>T (p.Val154Leu) c.325G>T (p.Val109Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432426C>G | CA10575964 | ACTA1 | c.460G>C (p.Val154Leu) c.325G>C (p.Val109Leu) | ClinVar dbSNP |