| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27463317G>A | CA174241544 | CHRNA2 | c.1126C>T (p.Arg376Trp) c.1081C>T (p.Arg361Trp) n.290-1563C>T c.1060C>T (p.Arg354Trp) c.*528C>T (n.*528C>T) c.649C>T (p.Arg217Trp) c.532C>T (p.Arg178Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463317G>C | CA370809419 | CHRNA2 | c.1126C>G (p.Arg376Gly) c.1081C>G (p.Arg361Gly) n.290-1563C>G c.1060C>G (p.Arg354Gly) c.*528C>G (n.*528C>G) c.649C>G (p.Arg217Gly) c.532C>G (p.Arg178Gly) | dbSNP |