| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105587del | CA16602311 | LDLR | c.939del (p.Asp313GlufsTer?) c.681del (p.Asp227GlufsTer?) c.935del c.314-1805del (n.314-1805del) c.558del (p.Asp186GlufsTer?) c.314-978del (n.314-978del) c.281del n.831del n.798del | ClinVar dbSNP |
| 19 | g.11105587C= | CA2322767632 | LDLR | c.939C= (p.Asp313=) c.681C= (p.Asp227=) c.935C= c.314-1805C= (n.314-1805C=) c.558C= (p.Asp186=) c.314-978C= (n.314-978C=) c.281C= n.831C= n.798C= | dbSNP dbSNP dbSNP |