Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424504C>T | CA116780 | NLRP3 | c.1055C>T (p.Ala352Val) c.920C>T (p.Ala307Val) c.1061C>T (p.Ala354Val) n.1236C>T | ClinVar dbSNP |
1 | g.247424504C= | CA1141581405 | NLRP3 | c.1055C= (p.Ala352=) c.920C= (p.Ala307=) c.1061C= (p.Ala354=) n.1236C= | dbSNP |