| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247424041G>C | CA1494901 | NLRP3 | c.592G>C (p.Val198Leu) c.457G>C (p.Val153Leu) c.598G>C (p.Val200Leu) n.773G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.247424041G>A | CA280962 | NLRP3 | c.592G>A (p.Val198Met) c.457G>A (p.Val153Met) c.598G>A (p.Val200Met) n.773G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.247424041G= | CA1141581401 | NLRP3 | c.592G= (p.Val198=) c.457G= (p.Val153=) c.598G= (p.Val200=) n.773G= | dbSNP |