| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105436C>T | CA023715 | LDLR | c.788C>T (p.Ser263Leu) c.530C>T (p.Ser177Leu) c.784C>T c.314-1956C>T (n.314-1956C>T) c.407C>T (p.Ser136Leu) c.314-1129C>T (n.314-1129C>T) c.130C>T n.680C>T n.647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105436C>G | CA404077062 | LDLR | c.788C>G (p.Ser263Trp) c.530C>G (p.Ser177Trp) c.784C>G c.314-1956C>G (n.314-1956C>G) c.407C>G (p.Ser136Trp) c.314-1129C>G (n.314-1129C>G) c.130C>G n.680C>G n.647C>G | ClinVar dbSNP |
| 19 | g.11105436C= | CA2322767465 | LDLR | c.788C= (p.Ser263=) c.530C= (p.Ser177=) c.784C= c.314-1956C= (n.314-1956C=) c.407C= (p.Ser136=) c.314-1129C= (n.314-1129C=) c.130C= n.680C= n.647C= | dbSNP |