| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431559C>A | CA269775 | ACTA1 | c.996G>T (p.Trp332Cys) c.939G>T (p.Trp313Cys) c.705G>T (p.Trp235Cys) c.1074G>T (p.Trp358Cys) | ClinVar dbSNP |
| 1 | g.229431559C= | CA1148225031 | ACTA1 | c.996G= (p.Trp332=) c.939G= (p.Trp313=) c.705G= (p.Trp235=) c.1074G= (p.Trp358=) | dbSNP |