| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.247436053A>C | CA345562274 | NLRP3 | c.2576A>C (p.Tyr859Ser) c.2321+1780A>C (n.2321+1780A>C) c.2492+1780A>C (n.2492+1780A>C) c.2405A>C (p.Tyr802Ser) c.2612A>C (n.2612A>C) c.2516A>C (p.Tyr839Ser) c.2582A>C (p.Tyr861Ser) c.2327+1780A>C (n.2327+1780A>C) c.2498+1780A>C (n.2498+1780A>C) c.2411A>C (p.Tyr804Ser) c.2327+6298A>C (n.2327+6298A>C) c.2157-7919A>C (n.2157-7919A>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.247436053A>G | CA281318 | NLRP3 | c.2576A>G (p.Tyr859Cys) c.2321+1780A>G (n.2321+1780A>G) c.2492+1780A>G (n.2492+1780A>G) c.2405A>G (p.Tyr802Cys) c.2612A>G (n.2612A>G) c.2516A>G (p.Tyr839Cys) c.2582A>G (p.Tyr861Cys) c.2327+1780A>G (n.2327+1780A>G) c.2498+1780A>G (n.2498+1780A>G) c.2411A>G (p.Tyr804Cys) c.2327+6298A>G (n.2327+6298A>G) c.2157-7919A>G (n.2157-7919A>G) | ClinVar dbSNP |