| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891853C>T | CA127804 | APP | n.2047G>A n.477G>A n.746G>A c.2080G>A (p.Asp694Asn) c.1855G>A (p.Asp619Asn) c.1687G>A (p.Asp563Asn) c.2023G>A (p.Asp675Asn) c.2026G>A (p.Asp676Asn) c.1750G>A (p.Asp584Asn) c.1912G>A (p.Asp638Asn) c.2008G>A (p.Asp670Asn) n.427G>A c.1969G>A (p.Asp657Asn) c.1801G>A (p.Asp601Asn) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891853C= | CA2383551642 | APP | n.2047G= n.477G= n.746G= c.2080G= (p.Asp694=) c.1855G= (p.Asp619=) c.1687G= (p.Asp563=) c.2023G= (p.Asp675=) c.2026G= (p.Asp676=) c.1750G= (p.Asp584=) c.1912G= (p.Asp638=) c.2008G= (p.Asp670=) n.427G= c.1969G= (p.Asp657=) c.1801G= (p.Asp601=) | dbSNP |