| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105516T>C | CA404077804 | LDLR | c.868T>C (p.Cys290Arg) c.610T>C (p.Cys204Arg) c.864T>C c.314-1876T>C (n.314-1876T>C) c.487T>C (p.Cys163Arg) c.314-1049T>C (n.314-1049T>C) c.210T>C n.760T>C n.727T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105516T>G | CA16602302 | LDLR | c.868T>G (p.Cys290Gly) c.610T>G (p.Cys204Gly) c.864T>G c.314-1876T>G (n.314-1876T>G) c.487T>G (p.Cys163Gly) c.314-1049T>G (n.314-1049T>G) c.210T>G n.760T>G n.727T>G | ClinVar dbSNP |
| 19 | g.11105516T= | CA2322767535 | LDLR | c.868T= (p.Cys290=) c.610T= (p.Cys204=) c.864T= c.314-1876T= (n.314-1876T=) c.487T= (p.Cys163=) c.314-1049T= (n.314-1049T=) c.210T= n.760T= n.727T= | dbSNP |