| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25897620C>T | CA130092 | APP | n.1984G>A n.414G>A n.683G>A c.2017G>A (p.Ala673Thr) c.1792G>A (p.Ala598Thr) c.1624G>A (p.Ala542Thr) c.1960G>A (p.Ala654Thr) c.1963G>A (p.Ala655Thr) c.1687G>A (p.Ala563Thr) c.1849G>A (p.Ala617Thr) c.1945G>A (p.Ala649Thr) n.364G>A c.1906G>A (p.Ala636Thr) c.1738G>A (p.Ala580Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897620C= | CA2383554925 | APP | n.1984G= n.414G= n.683G= c.2017G= (p.Ala673=) c.1792G= (p.Ala598=) c.1624G= (p.Ala542=) c.1960G= (p.Ala654=) c.1963G= (p.Ala655=) c.1687G= (p.Ala563=) c.1849G= (p.Ala617=) c.1945G= (p.Ala649=) n.364G= c.1906G= (p.Ala636=) c.1738G= (p.Ala580=) | dbSNP |