| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120454C>A | CA10585760 | LDLR | c.2330C>A (p.Ser777Ter) c.*141C>A (n.*141C>A) c.1952C>A (p.Ser651Ter) c.2072C>A (p.Ser691Ter) c.2326C>A c.1568C>A (p.Ser523Ter) c.1949C>A (p.Ser650Ter) c.1606+221C>A (n.1606+221C>A) c.1691C>A (p.Ser564Ter) n.2082C>A n.2189C>A n.2049C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11120454C>T | CA038447 | LDLR | c.2330C>T (p.Ser777Leu) c.*141C>T (n.*141C>T) c.1952C>T (p.Ser651Leu) c.2072C>T (p.Ser691Leu) c.2326C>T c.1568C>T (p.Ser523Leu) c.1949C>T (p.Ser650Leu) c.1606+221C>T (n.1606+221C>T) c.1691C>T (p.Ser564Leu) n.2082C>T n.2189C>T n.2049C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |