| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11116201G>T | CA023553 | LDLR | c.1952G>T (p.Gly651Val) c.1694G>T (p.Gly565Val) c.1574G>T (p.Gly525Val) c.1948G>T c.1190G>T (p.Gly397Val) c.1571G>T (p.Gly524Val) c.1313G>T (p.Gly438Val) c.415G>T n.1844G>T n.1811G>T | ClinVar dbSNP |
| 19 | g.11116201G>C | CA10576313 | LDLR | c.1952G>C (p.Gly651Ala) c.1694G>C (p.Gly565Ala) c.1574G>C (p.Gly525Ala) c.1948G>C c.1190G>C (p.Gly397Ala) c.1571G>C (p.Gly524Ala) c.1313G>C (p.Gly438Ala) c.415G>C n.1844G>C n.1811G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11116201G>A | CA16602333 | LDLR | c.1952G>A (p.Gly651Asp) c.1694G>A (p.Gly565Asp) c.1574G>A (p.Gly525Asp) c.1948G>A c.1190G>A (p.Gly397Asp) c.1571G>A (p.Gly524Asp) c.1313G>A (p.Gly438Asp) c.415G>A n.1844G>A n.1811G>A | ClinVar dbSNP gnomAD v4 |