| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113307C>A | CA023436 | LDLR | c.1474C>A (p.Arg492=) c.1216C>A (p.Arg406=) c.1096C>A (p.Arg366=) c.1470C>A c.712C>A (p.Arg238=) c.1093C>A (p.Arg365=) c.835C>A (p.Arg279=) n.215C>A c.696C>A n.1366C>A n.1333C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11113307C>T | CA033073 | LDLR | c.1474C>T (p.Arg492Trp) c.1216C>T (p.Arg406Trp) c.1096C>T (p.Arg366Trp) c.1470C>T c.712C>T (p.Arg238Trp) c.1093C>T (p.Arg365Trp) c.835C>T (p.Arg279Trp) n.215C>T c.696C>T n.1366C>T n.1333C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |