| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11116212G>T | CA10585569 | LDLR | c.1963G>T (p.Asp655Tyr) c.1705G>T (p.Gly569Ter) c.1585G>T (p.Asp529Tyr) c.1705G>T (p.Asp569Tyr) c.1959G>T c.1201G>T (p.Asp401Tyr) c.1582G>T (p.Asp528Tyr) c.1324G>T (p.Asp442Tyr) c.426G>T n.1855G>T n.1822G>T | ClinVar dbSNP |
| 19 | g.11116212G>A | CA16602334 | LDLR | c.1963G>A (p.Asp655Asn) c.1705G>A (p.Gly569Arg) c.1585G>A (p.Asp529Asn) c.1705G>A (p.Asp569Asn) c.1959G>A c.1201G>A (p.Asp401Asn) c.1582G>A (p.Asp528Asn) c.1324G>A (p.Asp442Asn) c.426G>A n.1855G>A n.1822G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11116212G= | CA2322773327 | LDLR | c.1963G= (p.Asp655=) c.1705G= (p.Gly569=) c.1585G= (p.Asp529=) c.1705G= (p.Asp569=) c.1959G= c.1201G= (p.Asp401=) c.1582G= (p.Asp528=) c.1324G= (p.Asp442=) c.426G= n.1855G= n.1822G= | dbSNP dbSNP |