| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247423853G>C | CA1494869 | NLRP3 | c.404G>C (p.Arg135Pro) c.269G>C (p.Arg90Pro) c.410G>C (p.Arg137Pro) n.585G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.247423853G>A | CA1494868 | NLRP3 | c.404G>A (p.Arg135His) c.269G>A (p.Arg90His) c.410G>A (p.Arg137His) n.585G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |