| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174753594G>T | CA430022793 | CHRNA1 | c.198C>A (p.Arg66=) c.762C>A (p.Arg254=) c.687C>A (p.Arg229=) c.441C>A (p.Arg147=) c.*331C>A (n.*331C>A) c.783C>A (p.Arg261=) c.708C>A (p.Arg236=) | dbSNP |
| 2 | g.174753594G>A | CA199695 | CHRNA1 | c.198C>T (p.Arg66=) c.762C>T (p.Arg254=) c.687C>T (p.Arg229=) c.441C>T (p.Arg147=) c.*331C>T (n.*331C>T) c.783C>T (p.Arg261=) c.708C>T (p.Arg236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |