| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891796C>T | CA090906 | APP | n.2104G>A n.534G>A n.803G>A c.2137G>A (p.Ala713Thr) c.1912G>A (p.Ala638Thr) c.1744G>A (p.Ala582Thr) c.2080G>A (p.Ala694Thr) c.2083G>A (p.Ala695Thr) c.1807G>A (p.Ala603Thr) c.1969G>A (p.Ala657Thr) c.2065G>A (p.Ala689Thr) n.484G>A c.2026G>A (p.Ala676Thr) c.1858G>A (p.Ala620Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891796C= | CA2383551622 | APP | n.2104G= n.534G= n.803G= c.2137G= (p.Ala713=) c.1912G= (p.Ala638=) c.1744G= (p.Ala582=) c.2080G= (p.Ala694=) c.2083G= (p.Ala695=) c.1807G= (p.Ala603=) c.1969G= (p.Ala657=) c.2065G= (p.Ala689=) n.484G= c.2026G= (p.Ala676=) c.1858G= (p.Ala620=) | dbSNP |