| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174750082C>A | CA258185 | CHRNA1 | c.377G>T (p.Ser126Ile) c.941G>T (p.Ser314Ile) c.866G>T (p.Ser289Ile) c.620G>T (p.Ser207Ile) c.*510G>T (n.*510G>T) c.962G>T (p.Ser321Ile) c.887G>T (p.Ser296Ile) | ClinVar dbSNP |
| 2 | g.174750082C= | CA1308832561 | CHRNA1 | c.377G= (p.Ser126=) c.941G= (p.Ser314=) c.866G= (p.Ser289=) c.620G= (p.Ser207=) c.*510G= (n.*510G=) c.962G= (p.Ser321=) c.887G= (p.Ser296=) | dbSNP |