| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.25557214C>T | CA117070 | LDLRAP1 | c.406C>T (p.Gln136Ter) n.154C>T n.876C>T n.525C>T c.325C>T (p.Gln109Ter) c.271C>T (p.Gln91Ter) n.476C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.25557214C= | CA1141580676 | LDLRAP1 | c.406C= (p.Gln136=) n.154C= n.876C= n.525C= c.325C= (p.Gln109=) c.271C= (p.Gln91=) n.476C= | dbSNP |