| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.73913565C>T | CA332119 | ACTG2 | c.532C>T (p.Arg178Cys) c.403C>T (p.Arg135Cys) c.*287C>T (n.*287C>T) c.*597C>T (n.*597C>T) | ClinVar dbSNP |
| 2 | g.73913565C>A | CA347303910 | ACTG2 | c.532C>A (p.Arg178Ser) c.403C>A (p.Arg135Ser) c.*287C>A (n.*287C>A) c.*597C>A (n.*597C>A) | ClinVar dbSNP |
| 2 | g.73913565C= | CA1261180827 | ACTG2 | c.532C= (p.Arg178=) c.403C= (p.Arg135=) c.*287C= (n.*287C=) c.*597C= (n.*597C=) | dbSNP |