| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11107402C>T | CA029790 | LDLR | c.1086C>T (p.Cys362=) c.828C>T (p.Cys276=) c.1082C>T c.324C>T (p.Cys108=) c.705C>T (p.Cys235=) c.447C>T (p.Cys149=) n.343C>T c.428C>T n.978C>T n.945C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107402C>G | CA10585156 | LDLR | c.1086C>G (p.Cys362Trp) c.828C>G (p.Cys276Trp) c.1082C>G c.324C>G (p.Cys108Trp) c.705C>G (p.Cys235Trp) c.447C>G (p.Cys149Trp) n.343C>G c.428C>G n.978C>G n.945C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11107402C>A | CA023773 | LDLR | c.1086C>A (p.Cys362Ter) c.828C>A (p.Cys276Ter) c.1082C>A c.324C>A (p.Cys108Ter) c.705C>A (p.Cys235Ter) c.447C>A (p.Cys149Ter) n.343C>A c.428C>A n.978C>A n.945C>A | ClinVar dbSNP |
| 19 | g.11107402C= | CA2322768570 | LDLR | c.1086C= (p.Cys362=) c.828C= (p.Cys276=) c.1082C= c.324C= (p.Cys108=) c.705C= (p.Cys235=) c.447C= (p.Cys149=) n.343C= c.428C= n.978C= n.945C= | dbSNP |