| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120470C>A | CA10585765 | LDLR | c.2346C>A (p.Cys782Ter) c.*157C>A (n.*157C>A) c.1968C>A (p.Cys656Ter) c.2088C>A (p.Cys696Ter) c.2342C>A c.1584C>A (p.Cys528Ter) c.1965C>A (p.Cys655Ter) c.1606+237C>A (n.1606+237C>A) c.1707C>A (p.Cys569Ter) n.2098C>A n.2205C>A n.2065C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11120470C>T | CA038494 | LDLR | c.2346C>T (p.Cys782=) c.*157C>T (n.*157C>T) c.1968C>T (p.Cys656=) c.2088C>T (p.Cys696=) c.2342C>T c.1584C>T (p.Cys528=) c.1965C>T (p.Cys655=) c.1606+237C>T (n.1606+237C>T) c.1707C>T (p.Cys569=) n.2098C>T n.2205C>T n.2065C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120470C>G | CA10585766 | LDLR | c.2346C>G (p.Cys782Trp) c.*157C>G (n.*157C>G) c.1968C>G (p.Cys656Trp) c.2088C>G (p.Cys696Trp) c.2342C>G c.1584C>G (p.Cys528Trp) c.1965C>G (p.Cys655Trp) c.1606+237C>G (n.1606+237C>G) c.1707C>G (p.Cys569Trp) n.2098C>G n.2205C>G n.2065C>G | ClinVar dbSNP |