Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424175G>A | CA292555 | NLRP3 | c.726G>A (p.Ala242=) c.591G>A (p.Ala197=) c.732G>A (p.Ala244=) n.907G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424175G>T | CA1494926 | NLRP3 | c.726G>T (p.Ala242=) c.591G>T (p.Ala197=) c.732G>T (p.Ala244=) n.907G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |