| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105496G>A | CA023730 | LDLR | c.848G>A (p.Cys283Tyr) c.590G>A (p.Cys197Tyr) c.844G>A c.314-1896G>A (n.314-1896G>A) c.467G>A (p.Cys156Tyr) c.314-1069G>A (n.314-1069G>A) c.190G>A n.740G>A n.707G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11105496G>T | CA044039 | LDLR | c.848G>T (p.Cys283Phe) c.590G>T (p.Cys197Phe) c.844G>T c.314-1896G>T (n.314-1896G>T) c.467G>T (p.Cys156Phe) c.314-1069G>T (n.314-1069G>T) c.190G>T n.740G>T n.707G>T | ClinVar dbSNP ExAC gnomAD v2 |