| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432075C>T | CA344563 | ACTA1 | c.727G>A (p.Glu243Lys) c.592G>A (p.Glu198Lys) c.480-213G>A (n.480-213G>A) | ClinVar dbSNP |
| 1 | g.229432075C>G | CA345146823 | ACTA1 | c.727G>C (p.Glu243Gln) c.592G>C (p.Glu198Gln) c.480-213G>C (n.480-213G>C) | ClinVar dbSNP |
| 1 | g.229432075C= | CA1143538616 | ACTA1 | c.727G= (p.Glu243=) c.592G= (p.Glu198=) c.480-213G= (n.480-213G=) | dbSNP |