| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105276dup | CA10654843 | LDLR | c.628dup (p.Arg210ProfsTer6) c.370dup (p.Arg124ProfsTer6) c.624dup c.314-2116dup (n.314-2116dup) c.247dup (p.Arg83ProfsTer6) c.314-1289dup (n.314-1289dup) n.520dup n.487dup | ClinVar dbSNP |
| 19 | g.11105276C= | CA2322767325 | LDLR | c.628C= (p.Arg210=) c.370C= (p.Arg124=) c.624C= c.314-2116C= (n.314-2116C=) c.247C= (p.Arg83=) c.314-1289C= (n.314-1289C=) n.520C= n.487C= | dbSNP dbSNP |