| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229431633G>A | CA341499 | ACTA1 | c.991-69C>T (n.991-69C>T) c.865C>T (p.Pro289Ser) c.631C>T (p.Pro211Ser) c.1000C>T (p.Pro334Ser) | ClinVar dbSNP |
| 1 | g.229431633G= | CA1141581372 | ACTA1 | c.991-69C= (n.991-69C=) c.865C= (p.Pro289=) c.631C= (p.Pro211=) c.1000C= (p.Pro334=) | dbSNP |