| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891786A>G | CA225511 | APP | n.2114T>C n.544T>C n.813T>C c.2147T>C (p.Ile716Thr) c.1922T>C (p.Ile641Thr) c.1754T>C (p.Ile585Thr) c.2090T>C (p.Ile697Thr) c.2093T>C (p.Ile698Thr) c.1817T>C (p.Ile606Thr) c.1979T>C (p.Ile660Thr) c.2075T>C (p.Ile692Thr) n.494T>C c.2036T>C (p.Ile679Thr) c.1868T>C (p.Ile623Thr) | ClinVar dbSNP |
| 21 | g.25891786A= | CA2383551613 | APP | n.2114T= n.544T= n.813T= c.2147T= (p.Ile716=) c.1922T= (p.Ile641=) c.1754T= (p.Ile585=) c.2090T= (p.Ile697=) c.2093T= (p.Ile698=) c.1817T= (p.Ile606=) c.1979T= (p.Ile660=) c.2075T= (p.Ile692=) n.494T= c.2036T= (p.Ile679=) c.1868T= (p.Ile623=) | dbSNP |