| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174754305C>T | CA1974546 | CHRNA1 | c.-36G>A (n.-36G>A) c.529G>A (p.Val177Ile) c.454G>A (p.Val152Ile) c.235-27G>A (n.235-27G>A) c.*98G>A (n.*98G>A) c.550G>A (p.Val184Ile) c.475G>A (p.Val159Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174754305C>G | CA128082 | CHRNA1 | c.-36G>C (n.-36G>C) c.529G>C (p.Val177Leu) c.454G>C (p.Val152Leu) c.235-27G>C (n.235-27G>C) c.*98G>C (n.*98G>C) c.550G>C (p.Val184Leu) c.475G>C (p.Val159Leu) | ClinVar dbSNP |