| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247425556C>A | CA1495112 | NLRP3 | c.2107C>A (p.Gln703Lys) c.1972C>A (p.Gln658Lys) c.2113C>A (p.Gln705Lys) n.2288C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.247425556C>T | CA345558681 | NLRP3 | c.2107C>T (p.Gln703Ter) c.1972C>T (p.Gln658Ter) c.2113C>T (p.Gln705Ter) n.2288C>T | dbSNP gnomAD v3 gnomAD v4 |