Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.53810801G>A | CA9639592 | NLRP12 | c.858C>T (p.Pro286=) c.690C>T (p.Pro230=) c.441C>T (p.Pro147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.53810801G>C | CA210450 | NLRP12 | c.858C>G (p.Pro286=) c.690C>G (p.Pro230=) c.441C>G (p.Pro147=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |