| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120412G>T | CA10576328 | LDLR | c.2288G>T (p.Cys763Phe) c.*99G>T (n.*99G>T) c.1910G>T (p.Cys637Phe) c.2030G>T (p.Cys677Phe) c.2284G>T c.1526G>T (p.Cys509Phe) c.1907G>T (p.Cys636Phe) c.1606+179G>T (n.1606+179G>T) c.1649G>T (p.Cys550Phe) n.2040G>T n.2147G>T n.2007G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11120412G>A | CA10585732 | LDLR | c.2288G>A (p.Cys763Tyr) c.*99G>A (n.*99G>A) c.1910G>A (p.Cys637Tyr) c.2030G>A (p.Cys677Tyr) c.2284G>A c.1526G>A (p.Cys509Tyr) c.1907G>A (p.Cys636Tyr) c.1606+179G>A (n.1606+179G>A) c.1649G>A (p.Cys550Tyr) n.2040G>A n.2147G>A n.2007G>A | ClinVar dbSNP |