| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11106653C>T | CA505484957 | LDLR | c.1041C>T (p.Cys347=) c.783C>T (p.Cys261=) c.1037C>T c.314-739C>T (n.314-739C>T) c.660C>T (p.Cys220=) c.402C>T (p.Cys134=) n.298C>T c.383C>T n.933C>T n.900C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11106653C>A | CA16602316 | LDLR | c.1041C>A (p.Cys347Ter) c.783C>A (p.Cys261Ter) c.1037C>A c.314-739C>A (n.314-739C>A) c.660C>A (p.Cys220Ter) c.402C>A (p.Cys134Ter) n.298C>A c.383C>A n.933C>A n.900C>A | ClinVar dbSNP |