| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11116124C>T | CA035425 | LDLR | c.1875C>T (p.Pro625=) c.1617C>T (p.Pro539=) c.1497C>T (p.Pro499=) c.1871C>T c.1113C>T (p.Pro371=) c.1494C>T (p.Pro498=) c.1236C>T (p.Pro412=) c.338C>T n.1767C>T n.1734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11116124C= | CA2322773257 | LDLR | c.1875C= (p.Pro625=) c.1617C= (p.Pro539=) c.1497C= (p.Pro499=) c.1871C= c.1113C= (p.Pro371=) c.1494C= (p.Pro498=) c.1236C= (p.Pro412=) c.338C= n.1767C= n.1734C= | dbSNP |