| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247418855G>A | CA345551749 | NLRP3 | c.55G>A (p.Asp19Asn) c.61G>A (p.Asp21Asn) n.236G>A | dbSNP |
| 1 | g.247418855G>C | CA1494741 | NLRP3 | c.55G>C (p.Asp19His) c.61G>C (p.Asp21His) n.236G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.247418855G= | CA1143399382 | NLRP3 | c.55G= (p.Asp19=) c.61G= (p.Asp21=) n.236G= | dbSNP |