| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174753524A>C | CA128078 | CHRNA1 | c.268T>G (p.Phe90Val) c.832T>G (p.Phe278Val) c.757T>G (p.Phe253Val) c.511T>G (p.Phe171Val) c.*401T>G (n.*401T>G) c.853T>G (p.Phe285Val) c.778T>G (p.Phe260Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174753524A= | CA1308834034 | CHRNA1 | c.268T= (p.Phe90=) c.832T= (p.Phe278=) c.757T= (p.Phe253=) c.511T= (p.Phe171=) c.*401T= (n.*401T=) c.853T= (p.Phe285=) c.778T= (p.Phe260=) | dbSNP |