| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11100294G>T | CA404074852 | LDLR | c.397G>T (p.Asp133Tyr) c.139G>T (p.Asp47Tyr) c.393G>T n.225G>T n.289G>T n.256G>T | ClinVar dbSNP |
| 19 | g.11100294G>C | CA404074850 | LDLR | c.397G>C (p.Asp133His) c.139G>C (p.Asp47His) c.393G>C n.225G>C n.289G>C n.256G>C | ClinVar dbSNP |
| 19 | g.11100294G>A | CA041918 | LDLR | c.397G>A (p.Asp133Asn) c.139G>A (p.Asp47Asn) c.393G>A n.225G>A n.289G>A n.256G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11100294G= | CA2322764741 | LDLR | c.397G= (p.Asp133=) c.139G= (p.Asp47=) c.393G= n.225G= n.289G= n.256G= | dbSNP |