| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174753595C>T | CA1974492 | CHRNA1 | c.197G>A (p.Arg66His) c.761G>A (p.Arg254His) c.686G>A (p.Arg229His) c.440G>A (p.Arg147His) c.*330G>A (n.*330G>A) c.782G>A (p.Arg261His) c.707G>A (p.Arg236His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174753595C>A | CA128084 | CHRNA1 | c.197G>T (p.Arg66Leu) c.761G>T (p.Arg254Leu) c.686G>T (p.Arg229Leu) c.440G>T (p.Arg147Leu) c.*330G>T (n.*330G>T) c.782G>T (p.Arg261Leu) c.707G>T (p.Arg236Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |