| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891858G>C | CA127794 | APP | n.2042C>G n.472C>G n.741C>G c.2075C>G (p.Ala692Gly) c.1850C>G (p.Ala617Gly) c.1682C>G (p.Ala561Gly) c.2018C>G (p.Ala673Gly) c.2021C>G (p.Ala674Gly) c.1745C>G (p.Ala582Gly) c.1907C>G (p.Ala636Gly) c.2003C>G (p.Ala668Gly) n.422C>G c.1964C>G (p.Ala655Gly) c.1796C>G (p.Ala599Gly) | ClinVar dbSNP |
| 21 | g.25891858G= | CA2383551647 | APP | n.2042C= n.472C= n.741C= c.2075C= (p.Ala692=) c.1850C= (p.Ala617=) c.1682C= (p.Ala561=) c.2018C= (p.Ala673=) c.2021C= (p.Ala674=) c.1745C= (p.Ala582=) c.1907C= (p.Ala636=) c.2003C= (p.Ala668=) n.422C= c.1964C= (p.Ala655=) c.1796C= (p.Ala599=) | dbSNP |