| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25897605C>T | CA225504 | APP | n.1999G>A n.429G>A n.698G>A c.2032G>A (p.Asp678Asn) c.1807G>A (p.Asp603Asn) c.1639G>A (p.Asp547Asn) c.1975G>A (p.Asp659Asn) c.1978G>A (p.Asp660Asn) c.1702G>A (p.Asp568Asn) c.1864G>A (p.Asp622Asn) c.1960G>A (p.Asp654Asn) n.379G>A c.1921G>A (p.Asp641Asn) c.1753G>A (p.Asp585Asn) | ClinVar dbSNP |
| 21 | g.25897605C>G | CA409806357 | APP | n.1999G>C n.429G>C n.698G>C c.2032G>C (p.Asp678His) c.1807G>C (p.Asp603His) c.1639G>C (p.Asp547His) c.1975G>C (p.Asp659His) c.1978G>C (p.Asp660His) c.1702G>C (p.Asp568His) c.1864G>C (p.Asp622His) c.1960G>C (p.Asp654His) n.379G>C c.1921G>C (p.Asp641His) c.1753G>C (p.Asp585His) | ClinVar dbSNP |
| 21 | g.25897605C= | CA2383554914 | APP | n.1999G= n.429G= n.698G= c.2032G= (p.Asp678=) c.1807G= (p.Asp603=) c.1639G= (p.Asp547=) c.1975G= (p.Asp659=) c.1978G= (p.Asp660=) c.1702G= (p.Asp568=) c.1864G= (p.Asp622=) c.1960G= (p.Asp654=) n.379G= c.1921G= (p.Asp641=) c.1753G= (p.Asp585=) | dbSNP |