| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.53810436C>T | CA407413972 | NLRP12 | c.1223G>A (p.Trp408Ter) c.1055G>A (p.Trp352Ter) c.806G>A (p.Trp269Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.53810436C>A | CA310069235 | NLRP12 | c.1223G>T (p.Trp408Leu) c.1055G>T (p.Trp352Leu) c.806G>T (p.Trp269Leu) | dbSNP |