| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.58548387C>T | CA210844 | LIPC | c.866C>T (p.Ser289Phe) c.683C>T (p.Ser228Phe) n.723C>T n.630C>T c.803C>T (p.Ser268Phe) c.725C>T (p.Ser242Phe) c.902C>T (p.Ser301Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58548387C= | CA2180403458 | LIPC | c.866C= (p.Ser289=) c.683C= (p.Ser228=) n.723C= n.630C= c.803C= (p.Ser268=) c.725C= (p.Ser242=) c.902C= (p.Ser301=) | dbSNP |