| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432365G>A | CA16043983 | ACTA1 | c.521C>T (p.Pro174Leu) c.386C>T (p.Pro129Leu) c.479+42C>T (n.479+42C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432365G>C | CA345148469 | ACTA1 | c.521C>G (p.Pro174Arg) c.386C>G (p.Pro129Arg) c.479+42C>G (n.479+42C>G) | ClinVar dbSNP |
| 1 | g.229432365G= | CA1226125757 | ACTA1 | c.521C= (p.Pro174=) c.386C= (p.Pro129=) c.479+42C= (n.479+42C=) | dbSNP |