| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174753544G>T | CA269927 | CHRNA1 | c.248C>A (p.Ser83Tyr) c.812C>A (p.Ser271Tyr) c.737C>A (p.Ser246Tyr) c.491C>A (p.Ser164Tyr) c.*381C>A (n.*381C>A) c.833C>A (p.Ser278Tyr) c.758C>A (p.Ser253Tyr) | ClinVar dbSNP |
| 2 | g.174753544G>A | CA269930 | CHRNA1 | c.248C>T (p.Ser83Phe) c.812C>T (p.Ser271Phe) c.737C>T (p.Ser246Phe) c.491C>T (p.Ser164Phe) c.*381C>T (n.*381C>T) c.833C>T (p.Ser278Phe) c.758C>T (p.Ser253Phe) | ClinVar dbSNP |