| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105268G>T | CA10584876 | LDLR | c.620G>T (p.Cys207Phe) c.362G>T (p.Cys121Phe) c.616G>T c.314-2124G>T (n.314-2124G>T) c.239G>T (p.Cys80Phe) c.314-1297G>T (n.314-1297G>T) n.512G>T n.479G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105268G>A | CA023699 | LDLR | c.620G>A (p.Cys207Tyr) c.362G>A (p.Cys121Tyr) c.616G>A c.314-2124G>A (n.314-2124G>A) c.239G>A (p.Cys80Tyr) c.314-1297G>A (n.314-1297G>A) n.512G>A n.479G>A | ClinVar dbSNP |
| 19 | g.11105268G>C | CA10584875 | LDLR | c.620G>C (p.Cys207Ser) c.362G>C (p.Cys121Ser) c.616G>C c.314-2124G>C (n.314-2124G>C) c.239G>C (p.Cys80Ser) c.314-1297G>C (n.314-1297G>C) n.512G>C n.479G>C | ClinVar dbSNP |