| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11106666G>A | CA10576288 | LDLR | c.1054G>A (p.Asp352Asn) c.796G>A (p.Asp266Asn) c.1050G>A c.314-726G>A (n.314-726G>A) c.673G>A (p.Asp225Asn) c.415G>A (p.Asp139Asn) n.311G>A c.396G>A n.946G>A n.913G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11106666G>T | CA10585134 | LDLR | c.1054G>T (p.Asp352Tyr) c.796G>T (p.Asp266Tyr) c.1050G>T c.314-726G>T (n.314-726G>T) c.673G>T (p.Asp225Tyr) c.415G>T (p.Asp139Tyr) n.311G>T c.396G>T n.946G>T n.913G>T | ClinVar dbSNP |
| 19 | g.11106666G>C | CA404080132 | LDLR | c.1054G>C (p.Asp352His) c.796G>C (p.Asp266His) c.1050G>C c.314-726G>C (n.314-726G>C) c.673G>C (p.Asp225His) c.415G>C (p.Asp139His) n.311G>C c.396G>C n.946G>C n.913G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11106666G= | CA2322768213 | LDLR | c.1054G= (p.Asp352=) c.796G= (p.Asp266=) c.1050G= c.314-726G= (n.314-726G=) c.673G= (p.Asp225=) c.415G= (p.Asp139=) n.311G= c.396G= n.946G= n.913G= | dbSNP |