| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113663G>C | CA305300122 | LDLR | c.1745G>C (p.Gly582Ala) c.1487G>C (p.Gly496Ala) c.1367G>C (p.Gly456Ala) c.1741G>C c.983G>C (p.Gly328Ala) c.1364G>C (p.Gly455Ala) c.1106G>C (p.Gly369Ala) c.208G>C n.1637G>C n.1604G>C | dbSNP |
| 19 | g.11113663G>T | CA10585477 | LDLR | c.1745G>T (p.Gly582Val) c.1487G>T (p.Gly496Val) c.1367G>T (p.Gly456Val) c.1741G>T c.983G>T (p.Gly328Val) c.1364G>T (p.Gly455Val) c.1106G>T (p.Gly369Val) c.208G>T n.1637G>T n.1604G>T | ClinVar dbSNP |
| 19 | g.11113663G= | CA2322771980 | LDLR | c.1745G= (p.Gly582=) c.1487G= (p.Gly496=) c.1367G= (p.Gly456=) c.1741G= c.983G= (p.Gly328=) c.1364G= (p.Gly455=) c.1106G= (p.Gly369=) c.208G= n.1637G= n.1604G= | dbSNP |