| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247425167T>C | CA116792 | NLRP3 | c.1718T>C (p.Phe573Ser) c.1583T>C (p.Phe528Ser) c.1724T>C (p.Phe575Ser) n.1899T>C | ClinVar dbSNP |
| 1 | g.247425167T= | CA1141581528 | NLRP3 | c.1718T= (p.Phe573=) c.1583T= (p.Phe528=) c.1724T= (p.Phe575=) n.1899T= | dbSNP |