| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.53810605G>T | CA407415019 | NLRP12 | c.1054C>A (p.Arg352Ser) c.886C>A (p.Arg296Ser) c.637C>A (p.Arg213Ser) | dbSNP gnomAD v4 |
| 19 | g.53810605G>A | CA9639530 | NLRP12 | c.1054C>T (p.Arg352Cys) c.886C>T (p.Arg296Cys) c.637C>T (p.Arg213Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |