| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174750127G>A | CA258181 | CHRNA1 | c.332C>T (p.Thr111Ile) c.896C>T (p.Thr299Ile) c.821C>T (p.Thr274Ile) c.575C>T (p.Thr192Ile) c.*465C>T (n.*465C>T) c.917C>T (p.Thr306Ile) c.842C>T (p.Thr281Ile) | ClinVar dbSNP |
| 2 | g.174750127G= | CA1308832576 | CHRNA1 | c.332C= (p.Thr111=) c.896C= (p.Thr299=) c.821C= (p.Thr274=) c.575C= (p.Thr192=) c.*465C= (n.*465C=) c.917C= (p.Thr306=) c.842C= (p.Thr281=) | dbSNP |