| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66560624C>T | CA128040 | ACTN3 | c.1729C>T (p.Arg577Ter) c.1858C>T (p.Arg620Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66560624C>A | CA1979721384 | ACTN3 | c.1729C>A (p.Arg577=) c.1858C>A (p.Arg620=) | dbSNP |
| 11 | g.66560624C= | CA6124840 | ACTN3 | c.1729C= (p.Arg577=) c.1858C= (p.Arg620=) | dbSNP |