| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174750143C>T | CA1974442 | CHRNA1 | c.316G>A (p.Val106Ile) c.880G>A (p.Val294Ile) c.805G>A (p.Val269Ile) c.559G>A (p.Val187Ile) c.*449G>A (n.*449G>A) c.901G>A (p.Val301Ile) c.826G>A (p.Val276Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174750143C>G | CA1974440 | CHRNA1 | c.316G>C (p.Val106Leu) c.880G>C (p.Val294Leu) c.805G>C (p.Val269Leu) c.559G>C (p.Val187Leu) c.*449G>C (n.*449G>C) c.901G>C (p.Val301Leu) c.826G>C (p.Val276Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174750143C>A | CA258187 | CHRNA1 | c.316G>T (p.Val106Phe) c.880G>T (p.Val294Phe) c.805G>T (p.Val269Phe) c.559G>T (p.Val187Phe) c.*449G>T (n.*449G>T) c.901G>T (p.Val301Phe) c.826G>T (p.Val276Phe) | ClinVar dbSNP |