| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247424662A>C | CA281145 | NLRP3 | c.1213A>C (p.Thr405Pro) c.1078A>C (p.Thr360Pro) c.1219A>C (p.Thr407Pro) n.1394A>C | ClinVar dbSNP |
| 1 | g.247424662A= | CA1142421400 | NLRP3 | c.1213A= (p.Thr405=) c.1078A= (p.Thr360=) c.1219A= (p.Thr407=) n.1394A= | dbSNP |