| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11116108C>G | CA404088637 | LDLR | c.1859C>G (p.Thr620Ser) c.1601C>G (p.Thr534Ser) c.1481C>G (p.Thr494Ser) c.1855C>G c.1097C>G (p.Thr366Ser) c.1478C>G (p.Thr493Ser) c.1220C>G (p.Thr407Ser) c.322C>G n.1751C>G n.1718C>G | dbSNP |
| 19 | g.11116108C>A | CA10585522 | LDLR | c.1859C>A (p.Thr620Asn) c.1601C>A (p.Thr534Asn) c.1481C>A (p.Thr494Asn) c.1855C>A c.1097C>A (p.Thr366Asn) c.1478C>A (p.Thr493Asn) c.1220C>A (p.Thr407Asn) c.322C>A n.1751C>A n.1718C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11116108C= | CA2322773245 | LDLR | c.1859C= (p.Thr620=) c.1601C= (p.Thr534=) c.1481C= (p.Thr494=) c.1855C= c.1097C= (p.Thr366=) c.1478C= (p.Thr493=) c.1220C= (p.Thr407=) c.322C= n.1751C= n.1718C= | dbSNP |