| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.174754233C>T | CA258179 | CHRNA1 | c.37G>A (p.Val13Met) c.601G>A (p.Val201Met) c.526G>A (p.Val176Met) c.280G>A (p.Val94Met) c.*170G>A (n.*170G>A) c.622G>A (p.Val208Met) c.547G>A (p.Val183Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174754233C>G | CA1974536 | CHRNA1 | c.37G>C (p.Val13Leu) c.601G>C (p.Val201Leu) c.526G>C (p.Val176Leu) c.280G>C (p.Val94Leu) c.*170G>C (n.*170G>C) c.622G>C (p.Val208Leu) c.547G>C (p.Val183Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174754233C>A | CA349340841 | CHRNA1 | c.37G>T (p.Val13Leu) c.601G>T (p.Val201Leu) c.526G>T (p.Val176Leu) c.280G>T (p.Val94Leu) c.*170G>T (n.*170G>T) c.622G>T (p.Val208Leu) c.547G>T (p.Val183Leu) | dbSNP gnomAD v2 gnomAD v4 |