| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44949172A>C | CA115614 | APOC2,APOC4-APOC2 | c.229A>C (p.Lys77Gln) c.*1012A>C (n.*1012A>C) c.*308A>C (n.*308A>C) c.460A>C (p.Lys154Gln) c.187A>C (p.Lys63Gln) c.*23A>C (n.*23A>C) n.1436A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44949172A= | CA2338188886 | APOC2,APOC4-APOC2 | c.229A= (p.Lys77=) c.*1012A= (n.*1012A=) c.*308A= (n.*308A=) c.460A= (p.Lys154=) c.187A= (p.Lys63=) c.*23A= (n.*23A=) n.1436A= | dbSNP |