| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113296T>C | CA16602326 | LDLR | c.1463T>C (p.Phe488Ser) c.1205T>C (p.Phe402Ser) c.1085T>C (p.Phe362Ser) c.1459T>C c.701T>C (p.Phe234Ser) c.1082T>C (p.Phe361Ser) c.824T>C (p.Phe275Ser) n.204T>C c.685T>C n.1355T>C n.1322T>C | ClinVar dbSNP |
| 19 | g.11113296T= | CA2322771696 | LDLR | c.1463T= (p.Phe488=) c.1205T= (p.Phe402=) c.1085T= (p.Phe362=) c.1459T= c.701T= (p.Phe234=) c.1082T= (p.Phe361=) c.824T= (p.Phe275=) n.204T= c.685T= n.1355T= n.1322T= | dbSNP |