| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174750122A>G | CA128080 | CHRNA1 | c.337T>C (p.Phe113Leu) c.901T>C (p.Phe301Leu) c.826T>C (p.Phe276Leu) c.580T>C (p.Phe194Leu) c.*470T>C (n.*470T>C) c.922T>C (p.Phe308Leu) c.847T>C (p.Phe283Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174750122A= | CA1308832574 | CHRNA1 | c.337T= (p.Phe113=) c.901T= (p.Phe301=) c.826T= (p.Phe276=) c.580T= (p.Phe194=) c.*470T= (n.*470T=) c.922T= (p.Phe308=) c.847T= (p.Phe283=) | dbSNP |