Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424356G>C | CA281391 | NLRP3 | c.907G>C (p.Asp303His) c.772G>C (p.Asp258His) c.913G>C (p.Asp305His) n.1088G>C | ClinVar dbSNP |
1 | g.247424356G>A | CA116796 | NLRP3 | c.907G>A (p.Asp303Asn) c.772G>A (p.Asp258Asn) c.913G>A (p.Asp305Asn) n.1088G>A | ClinVar dbSNP gnomAD v4 COSMIC |