| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11123200G>T | CA10654855 | LDLR | c.2425G>T (p.Glu809Ter) c.*236G>T (n.*236G>T) c.2047G>T (p.Glu683Ter) c.2167G>T (p.Glu723Ter) c.2421G>T c.1663G>T (p.Glu555Ter) c.2044G>T (p.Glu682Ter) c.1633G>T (p.Glu545Ter) c.1786G>T (p.Glu596Ter) n.2177G>T n.2501G>T n.2144G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123200G= | CA2322777176 | LDLR | c.2425G= (p.Glu809=) c.*236G= (n.*236G=) c.2047G= (p.Glu683=) c.2167G= (p.Glu723=) c.2421G= c.1663G= (p.Glu555=) c.2044G= (p.Glu682=) c.1633G= (p.Glu545=) c.1786G= (p.Glu596=) n.2177G= n.2501G= n.2144G= | dbSNP |
| 19 | g.11123200G>A | CA404094832 | LDLR | c.2425G>A (p.Glu809Lys) c.*236G>A (n.*236G>A) c.2047G>A (p.Glu683Lys) c.2167G>A (p.Glu723Lys) c.2421G>A c.1663G>A (p.Glu555Lys) c.2044G>A (p.Glu682Lys) c.1633G>A (p.Glu545Lys) c.1786G>A (p.Glu596Lys) n.2177G>A n.2501G>A n.2144G>A | dbSNP gnomAD v4 COSMIC |