| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120425C>A | CA023623 | LDLR | c.2301C>A (p.Cys767Ter) c.*112C>A (n.*112C>A) c.1923C>A (p.Cys641Ter) c.2043C>A (p.Cys681Ter) c.2297C>A c.1539C>A (p.Cys513Ter) c.1920C>A (p.Cys640Ter) c.1606+192C>A (n.1606+192C>A) c.1662C>A (p.Cys554Ter) n.2053C>A n.2160C>A n.2020C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11120425C>G | CA10585743 | LDLR | c.2301C>G (p.Cys767Trp) c.*112C>G (n.*112C>G) c.1923C>G (p.Cys641Trp) c.2043C>G (p.Cys681Trp) c.2297C>G c.1539C>G (p.Cys513Trp) c.1920C>G (p.Cys640Trp) c.1606+192C>G (n.1606+192C>G) c.1662C>G (p.Cys554Trp) n.2053C>G n.2160C>G n.2020C>G | ClinVar dbSNP |