| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11116140G>T | CA10585536 | LDLR | c.1891G>T (p.Gly631Trp) c.1633G>T (p.Gly545Trp) c.1513G>T (p.Gly505Trp) c.1887G>T c.1129G>T (p.Gly377Trp) c.1510G>T (p.Gly504Trp) c.1252G>T (p.Gly418Trp) c.354G>T n.1783G>T n.1750G>T | ClinVar dbSNP |
| 19 | g.11116140G>C | CA10585535 | LDLR | c.1891G>C (p.Gly631Arg) c.1633G>C (p.Gly545Arg) c.1513G>C (p.Gly505Arg) c.1887G>C c.1129G>C (p.Gly377Arg) c.1510G>C (p.Gly504Arg) c.1252G>C (p.Gly418Arg) c.354G>C n.1783G>C n.1750G>C | ClinVar dbSNP |
| 19 | g.11116140G>A | CA10585534 | LDLR | c.1891G>A (p.Gly631Arg) c.1633G>A (p.Gly545Arg) c.1513G>A (p.Gly505Arg) c.1887G>A c.1129G>A (p.Gly377Arg) c.1510G>A (p.Gly504Arg) c.1252G>A (p.Gly418Arg) c.354G>A n.1783G>A n.1750G>A | ClinVar dbSNP COSMIC |