| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891789A>C | CA409805557 | APP | n.2111T>G n.541T>G n.810T>G c.2144T>G (p.Val715Gly) c.1919T>G (p.Val640Gly) c.1751T>G (p.Val584Gly) c.2087T>G (p.Val696Gly) c.2090T>G (p.Val697Gly) c.1814T>G (p.Val605Gly) c.1976T>G (p.Val659Gly) c.2072T>G (p.Val691Gly) n.491T>G c.2033T>G (p.Val678Gly) c.1865T>G (p.Val622Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.25891789A>G | CA225507 | APP | n.2111T>C n.541T>C n.810T>C c.2144T>C (p.Val715Ala) c.1919T>C (p.Val640Ala) c.1751T>C (p.Val584Ala) c.2087T>C (p.Val696Ala) c.2090T>C (p.Val697Ala) c.1814T>C (p.Val605Ala) c.1976T>C (p.Val659Ala) c.2072T>C (p.Val691Ala) n.491T>C c.2033T>C (p.Val678Ala) c.1865T>C (p.Val622Ala) | ClinVar dbSNP |