| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105499C>T | CA044071 | LDLR | c.851C>T (p.Ser284Leu) c.593C>T (p.Ser198Leu) c.847C>T c.314-1893C>T (n.314-1893C>T) c.470C>T (p.Ser157Leu) c.314-1066C>T (n.314-1066C>T) c.193C>T n.743C>T n.710C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.11105499C>G | CA044059 | LDLR | c.851C>G (p.Ser284Trp) c.593C>G (p.Ser198Trp) c.847C>G c.314-1893C>G (n.314-1893C>G) c.470C>G (p.Ser157Trp) c.314-1066C>G (n.314-1066C>G) c.193C>G n.743C>G n.710C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105499C>A | CA10585002 | LDLR | c.851C>A (p.Ser284Ter) c.593C>A (p.Ser198Ter) c.847C>A c.314-1893C>A (n.314-1893C>A) c.470C>A (p.Ser157Ter) c.314-1066C>A (n.314-1066C>A) c.193C>A n.743C>A n.710C>A | ClinVar dbSNP |