| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113543T>A | CA10585429 | LDLR | c.1625T>A (p.Leu542His) c.1367T>A (p.Leu456His) c.1247T>A (p.Leu416His) c.1621T>A c.863T>A (p.Leu288His) c.1244T>A (p.Leu415His) c.986T>A (p.Leu329His) c.88T>A c.847T>A n.1517T>A n.1484T>A | ClinVar dbSNP |
| 19 | g.11113543T>C | CA305300092 | LDLR | c.1625T>C (p.Leu542Pro) c.1367T>C (p.Leu456Pro) c.1247T>C (p.Leu416Pro) c.1621T>C c.863T>C (p.Leu288Pro) c.1244T>C (p.Leu415Pro) c.986T>C (p.Leu329Pro) c.88T>C c.847T>C n.1517T>C n.1484T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |