| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432877C>A | CA221483 | ACTA1 | c.133G>T (p.Val45Phe) c.-3G>T (n.-3G>T) | ClinVar dbSNP |
| 1 | g.229432877C>T | CA345151077 | ACTA1 | c.133G>A (p.Val45Ile) c.-3G>A (n.-3G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432877C= | CA1144233517 | ACTA1 | c.133G= (p.Val45=) c.-3G= (n.-3G=) | dbSNP |