| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174750035C>T | CA128076 | CHRNA1 | c.424G>A (p.Val142Ile) c.988G>A (p.Val330Ile) c.913G>A (p.Val305Ile) c.667G>A (p.Val223Ile) c.*557G>A (n.*557G>A) c.1009G>A (p.Val337Ile) c.934G>A (p.Val312Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174750035C= | CA1308832538 | CHRNA1 | c.424G= (p.Val142=) c.988G= (p.Val330=) c.913G= (p.Val305=) c.667G= (p.Val223=) c.*557G= (n.*557G=) c.1009G= (p.Val337=) c.934G= (p.Val312=) | dbSNP |