Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56983380A>G | CA130258 | CETP | c.1376A>G (p.Asp459Gly) n.1774A>G c.1196A>G (p.Asp399Gly) c.1181A>G (p.Asp394Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56983380A= | CA2224402560 | CETP | c.1376A= (p.Asp459=) n.1774A= c.1196A= (p.Asp399=) c.1181A= (p.Asp394=) | dbSNP |