| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174753659C>T | CA16604074 | CHRNA1 | c.133G>A (p.Val45Met) c.697G>A (p.Val233Met) c.622G>A (p.Val208Met) c.376G>A (p.Val126Met) c.*266G>A (n.*266G>A) c.718G>A (p.Val240Met) c.643G>A (p.Val215Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174753659C= | CA1308834101 | CHRNA1 | c.133G= (p.Val45=) c.697G= (p.Val233=) c.622G= (p.Val208=) c.376G= (p.Val126=) c.*266G= (n.*266G=) c.718G= (p.Val240=) c.643G= (p.Val215=) | dbSNP |