| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105412A>T | CA10584953 | LDLR | c.764A>T (p.Asn255Ile) c.506A>T (p.Asn169Ile) c.760A>T c.314-1980A>T (n.314-1980A>T) c.383A>T (p.Asn128Ile) c.314-1153A>T (n.314-1153A>T) c.106A>T n.656A>T n.623A>T | ClinVar dbSNP |
| 19 | g.11105412A= | CA2322767441 | LDLR | c.764A= (p.Asn255=) c.506A= (p.Asn169=) c.760A= c.314-1980A= (n.314-1980A=) c.383A= (p.Asn128=) c.314-1153A= (n.314-1153A=) c.106A= n.656A= n.623A= | dbSNP |