| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891787T>C | CA127799 | APP | n.2113A>G n.543A>G n.812A>G c.2146A>G (p.Ile716Val) c.1921A>G (p.Ile641Val) c.1753A>G (p.Ile585Val) c.2089A>G (p.Ile697Val) c.2092A>G (p.Ile698Val) c.1816A>G (p.Ile606Val) c.1978A>G (p.Ile660Val) c.2074A>G (p.Ile692Val) n.493A>G c.2035A>G (p.Ile679Val) c.1867A>G (p.Ile623Val) | ClinVar dbSNP |
| 21 | g.25891787T>A | CA409805555 | APP | n.2113A>T n.543A>T n.812A>T c.2146A>T (p.Ile716Phe) c.1921A>T (p.Ile641Phe) c.1753A>T (p.Ile585Phe) c.2089A>T (p.Ile697Phe) c.2092A>T (p.Ile698Phe) c.1816A>T (p.Ile606Phe) c.1978A>T (p.Ile660Phe) c.2074A>T (p.Ile692Phe) n.493A>T c.2035A>T (p.Ile679Phe) c.1867A>T (p.Ile623Phe) | ClinVar dbSNP |