| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11116144G>A | CA023543 | LDLR | c.1895G>A (p.Gly632Asp) c.1637G>A (p.Gly546Asp) c.1517G>A (p.Gly506Asp) c.1891G>A c.1133G>A (p.Gly378Asp) c.1514G>A (p.Gly505Asp) c.1256G>A (p.Gly419Asp) c.358G>A n.1787G>A n.1754G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11116144G>T | CA10585538 | LDLR | c.1895G>T (p.Gly632Val) c.1637G>T (p.Gly546Val) c.1517G>T (p.Gly506Val) c.1891G>T c.1133G>T (p.Gly378Val) c.1514G>T (p.Gly505Val) c.1256G>T (p.Gly419Val) c.358G>T n.1787G>T n.1754G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11116144G= | CA2322773270 | LDLR | c.1895G= (p.Gly632=) c.1637G= (p.Gly546=) c.1517G= (p.Gly506=) c.1891G= c.1133G= (p.Gly378=) c.1514G= (p.Gly505=) c.1256G= (p.Gly419=) c.358G= n.1787G= n.1754G= | dbSNP |