Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.53810777G>A | CA9639582 | NLRP12 | c.882C>T (p.Asp294=) c.714C>T (p.Asp238=) c.465C>T (p.Asp155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.53810777G>C | CA9639583 | NLRP12 | c.882C>G (p.Asp294Glu) c.714C>G (p.Asp238Glu) c.465C>G (p.Asp155Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |