| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105276C>T | CA10584884 | LDLR | c.628C>T (p.Arg210Trp) c.370C>T (p.Arg124Trp) c.624C>T c.314-2116C>T (n.314-2116C>T) c.247C>T (p.Arg83Trp) c.314-1289C>T (n.314-1289C>T) n.520C>T n.487C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.11105276C>G | CA10584883 | LDLR | c.628C>G (p.Arg210Gly) c.370C>G (p.Arg124Gly) c.624C>G c.314-2116C>G (n.314-2116C>G) c.247C>G (p.Arg83Gly) c.314-1289C>G (n.314-1289C>G) n.520C>G n.487C>G | 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 |