| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432575G>A | CA1442882 | ACTA1 | c.435C>T (p.Tyr145=) c.300C>T (p.Tyr100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.229432575G>T | CA1442883 | ACTA1 | c.435C>A (p.Tyr145Ter) c.300C>A (p.Tyr100Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432575G>C | CA345149170 | ACTA1 | c.435C>G (p.Tyr145Ter) c.300C>G (p.Tyr100Ter) | dbSNP gnomAD v4 |
| 1 | g.229432575G= | CA1143794504 | ACTA1 | c.435C= (p.Tyr145=) c.300C= (p.Tyr100=) | dbSNP |