| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891761C>G | CA225514 | APP | n.2139G>C n.569G>C n.838G>C c.2172G>C (p.Lys724Asn) c.1947G>C (p.Lys649Asn) c.1779G>C (p.Lys593Asn) c.2115G>C (p.Lys705Asn) c.2118G>C (p.Lys706Asn) c.1842G>C (p.Lys614Asn) c.2004G>C (p.Lys668Asn) c.2100G>C (p.Lys700Asn) n.519G>C c.2061G>C (p.Lys687Asn) c.1893G>C (p.Lys631Asn) | ClinVar dbSNP |
| 21 | g.25891761C>T | CA511685976 | APP | n.2139G>A n.569G>A n.838G>A c.2172G>A (p.Lys724=) c.1947G>A (p.Lys649=) c.1779G>A (p.Lys593=) c.2115G>A (p.Lys705=) c.2118G>A (p.Lys706=) c.1842G>A (p.Lys614=) c.2004G>A (p.Lys668=) c.2100G>A (p.Lys700=) n.519G>A c.2061G>A (p.Lys687=) c.1893G>A (p.Lys631=) | dbSNP |