| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432350C>A | CA233440 | ACTA1 | c.536G>T (p.Arg179Leu) c.401G>T (p.Arg134Leu) c.479+57G>T (n.479+57G>T) | ClinVar dbSNP |
| 1 | g.229432350C= | CA1148225032 | ACTA1 | c.536G= (p.Arg179=) c.401G= (p.Arg134=) c.479+57G= (n.479+57G=) | dbSNP |
| 1 | g.229432350C>T | CA345148332 | ACTA1 | c.536G>A (p.Arg179His) c.401G>A (p.Arg134His) c.479+57G>A (n.479+57G>A) | ClinVar dbSNP |