Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11107491C>A | CA10585193 | LDLR | c.1175C>A (p.Ser392Ter) c.917C>A (p.Ser306Ter) c.1171C>A c.413C>A (p.Ser138Ter) c.794C>A (p.Ser265Ter) c.536C>A (p.Ser179Ter) n.432C>A c.517C>A n.1067C>A n.1034C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11107491C>G | CA10585194 | LDLR | c.1175C>G (p.Ser392Ter) c.917C>G (p.Ser306Ter) c.1171C>G c.413C>G (p.Ser138Ter) c.794C>G (p.Ser265Ter) c.536C>G (p.Ser179Ter) n.432C>G c.517C>G n.1067C>G n.1034C>G | ClinVar dbSNP |