| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891790C>T | CA127800 | APP | n.2110G>A n.540G>A n.809G>A c.2143G>A (p.Val715Met) c.1918G>A (p.Val640Met) c.1750G>A (p.Val584Met) c.2086G>A (p.Val696Met) c.2089G>A (p.Val697Met) c.1813G>A (p.Val605Met) c.1975G>A (p.Val659Met) c.2071G>A (p.Val691Met) n.490G>A c.2032G>A (p.Val678Met) c.1864G>A (p.Val622Met) | ClinVar dbSNP |
| 21 | g.25891790C= | CA2383551617 | APP | n.2110G= n.540G= n.809G= c.2143G= (p.Val715=) c.1918G= (p.Val640=) c.1750G= (p.Val584=) c.2086G= (p.Val696=) c.2089G= (p.Val697=) c.1813G= (p.Val605=) c.1975G= (p.Val659=) c.2071G= (p.Val691=) n.490G= c.2032G= (p.Val678=) c.1864G= (p.Val622=) | dbSNP |