| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891765A>G | CA225513 | APP | n.2135T>C n.565T>C n.834T>C c.2168T>C (p.Leu723Pro) c.1943T>C (p.Leu648Pro) c.1775T>C (p.Leu592Pro) c.2111T>C (p.Leu704Pro) c.2114T>C (p.Leu705Pro) c.1838T>C (p.Leu613Pro) c.2000T>C (p.Leu667Pro) c.2096T>C (p.Leu699Pro) n.515T>C c.2057T>C (p.Leu686Pro) c.1889T>C (p.Leu630Pro) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891765A= | CA2383551605 | APP | n.2135T= n.565T= n.834T= c.2168T= (p.Leu723=) c.1943T= (p.Leu648=) c.1775T= (p.Leu592=) c.2111T= (p.Leu704=) c.2114T= (p.Leu705=) c.1838T= (p.Leu613=) c.2000T= (p.Leu667=) c.2096T= (p.Leu699=) n.515T= c.2057T= (p.Leu686=) c.1889T= (p.Leu630=) | dbSNP |