| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11116153G>A | CA023546 | LDLR | c.1904G>A (p.Gly635Asp) c.1646G>A (p.Gly549Asp) c.1526G>A (p.Gly509Asp) c.1900G>A c.1142G>A (p.Gly381Asp) c.1523G>A (p.Gly508Asp) c.1265G>A (p.Gly422Asp) c.367G>A n.1796G>A n.1763G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11116153G>C | CA404089091 | LDLR | c.1904G>C (p.Gly635Ala) c.1646G>C (p.Gly549Ala) c.1526G>C (p.Gly509Ala) c.1900G>C c.1142G>C (p.Gly381Ala) c.1523G>C (p.Gly508Ala) c.1265G>C (p.Gly422Ala) c.367G>C n.1796G>C n.1763G>C | ClinVar dbSNP |
| 19 | g.11116153G>T | CA10585545 | LDLR | c.1904G>T (p.Gly635Val) c.1646G>T (p.Gly549Val) c.1526G>T (p.Gly509Val) c.1900G>T c.1142G>T (p.Gly381Val) c.1523G>T (p.Gly508Val) c.1265G>T (p.Gly422Val) c.367G>T n.1796G>T n.1763G>T | ClinVar dbSNP |