| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11107403G>A | CA023775 | LDLR | c.1087G>A (p.Glu363Lys) c.829G>A (p.Glu277Lys) c.1083G>A c.325G>A (p.Glu109Lys) c.706G>A (p.Glu236Lys) c.448G>A (p.Glu150Lys) n.344G>A c.429G>A n.979G>A n.946G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107403G>T | CA404080521 | LDLR | c.1087G>T (p.Glu363Ter) c.829G>T (p.Glu277Ter) c.1083G>T c.325G>T (p.Glu109Ter) c.706G>T (p.Glu236Ter) c.448G>T (p.Glu150Ter) n.344G>T c.429G>T n.979G>T n.946G>T | ClinVar dbSNP |