| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247424755A>G | CA281165 | NLRP3 | c.1306A>G (p.Thr436Ala) c.1171A>G (p.Thr391Ala) c.1312A>G (p.Thr438Ala) n.1487A>G | ClinVar dbSNP |
| 1 | g.247424755A>C | CA281161 | NLRP3 | c.1306A>C (p.Thr436Pro) c.1171A>C (p.Thr391Pro) c.1312A>C (p.Thr438Pro) n.1487A>C | ClinVar dbSNP |
| 1 | g.247424755A= | CA1142421403 | NLRP3 | c.1306A= (p.Thr436=) c.1171A= (p.Thr391=) c.1312A= (p.Thr438=) n.1487A= | dbSNP |
| 1 | g.247424755A>T | CA345556612 | NLRP3 | c.1306A>T (p.Thr436Ser) c.1171A>T (p.Thr391Ser) c.1312A>T (p.Thr438Ser) n.1487A>T | dbSNP gnomAD v4 |