| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247424227C>T | CA116784 | NLRP3 | c.778C>T (p.Arg260Ter) c.643C>T (p.Arg215Ter) c.784C>T (p.Arg262Ter) n.959C>T c.784C>T (p.Arg262Trp) c.778C>T (p.Arg260Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.247424227C= | CA1141581402 | NLRP3 | c.778C= (p.Arg260=) c.643C= (p.Arg215=) c.784C= (p.Arg262=) n.959C= | dbSNP |