| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891820G>C | CA127815 | APP | n.2080C>G n.510C>G n.779C>G c.2113C>G (p.Leu705Val) c.1888C>G (p.Leu630Val) c.1720C>G (p.Leu574Val) c.2056C>G (p.Leu686Val) c.2059C>G (p.Leu687Val) c.1783C>G (p.Leu595Val) c.1945C>G (p.Leu649Val) c.2041C>G (p.Leu681Val) n.460C>G c.2002C>G (p.Leu668Val) c.1834C>G (p.Leu612Val) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891820G= | CA2383551633 | APP | n.2080C= n.510C= n.779C= c.2113C= (p.Leu705=) c.1888C= (p.Leu630=) c.1720C= (p.Leu574=) c.2056C= (p.Leu686=) c.2059C= (p.Leu687=) c.1783C= (p.Leu595=) c.1945C= (p.Leu649=) c.2041C= (p.Leu681=) n.460C= c.2002C= (p.Leu668=) c.1834C= (p.Leu612=) | dbSNP |