| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11107508G>T | CA10585204 | LDLR | c.1192G>T (p.Glu398Ter) c.934G>T (p.Glu312Ter) c.1188G>T c.430G>T (p.Glu144Ter) c.811G>T (p.Glu271Ter) c.553G>T (p.Glu185Ter) n.449G>T c.534G>T n.1084G>T n.1051G>T | ClinVar dbSNP COSMIC |
| 19 | g.11107508G= | CA2322768657 | LDLR | c.1192G= (p.Glu398=) c.934G= (p.Glu312=) c.1188G= c.430G= (p.Glu144=) c.811G= (p.Glu271=) c.553G= (p.Glu185=) n.449G= c.534G= n.1084G= n.1051G= | dbSNP |