| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174754242C>T | CA258183 | CHRNA1 | c.28G>A (p.Gly10Ser) c.592G>A (p.Gly198Ser) c.517G>A (p.Gly173Ser) c.271G>A (p.Gly91Ser) c.*161G>A (n.*161G>A) c.613G>A (p.Gly205Ser) c.538G>A (p.Gly180Ser) | ClinVar dbSNP |
| 2 | g.174754242C= | CA1308834331 | CHRNA1 | c.28G= (p.Gly10=) c.592G= (p.Gly198=) c.517G= (p.Gly173=) c.271G= (p.Gly91=) c.*161G= (n.*161G=) c.613G= (p.Gly205=) c.538G= (p.Gly180=) | dbSNP |