| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432371G>A | CA345148520 | ACTA1 | c.515C>T (p.Ala172Val) c.380C>T (p.Ala127Val) c.479+36C>T (n.479+36C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432371G>T | CA151571 | ACTA1 | c.515C>A (p.Ala172Glu) c.380C>A (p.Ala127Glu) c.479+36C>A (n.479+36C>A) | ClinVar dbSNP |
| 1 | g.229432371G= | CA1148225033 | ACTA1 | c.515C= (p.Ala172=) c.380C= (p.Ala127=) c.479+36C= (n.479+36C=) | dbSNP |