| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113589A>G | CA023488 | LDLR | c.1671A>G (p.Arg557=) c.1413A>G (p.Arg471=) c.1293A>G (p.Arg431=) c.1667A>G c.909A>G (p.Arg303=) c.1290A>G (p.Arg430=) c.1032A>G (p.Arg344=) c.134A>G c.893A>G n.1563A>G n.1530A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113589A>T | CA404085859 | LDLR | c.1671A>T (p.Arg557Ser) c.1413A>T (p.Arg471Ser) c.1293A>T (p.Arg431Ser) c.1667A>T c.909A>T (p.Arg303Ser) c.1290A>T (p.Arg430Ser) c.1032A>T (p.Arg344Ser) c.134A>T c.893A>T n.1563A>T n.1530A>T | dbSNP gnomAD v4 |