Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424106C>T | CA1494918 | NLRP3 | c.657C>T (p.Thr219=) c.522C>T (p.Thr174=) c.663C>T (p.Thr221=) n.838C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424106C>G | CA1494919 | NLRP3 | c.657C>G (p.Thr219=) c.522C>G (p.Thr174=) c.663C>G (p.Thr221=) n.838C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |