| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891856C>G | CA127790 | APP | n.2044G>C n.474G>C n.743G>C c.2077G>C (p.Glu693Gln) c.1852G>C (p.Glu618Gln) c.1684G>C (p.Glu562Gln) c.2020G>C (p.Glu674Gln) c.2023G>C (p.Glu675Gln) c.1747G>C (p.Glu583Gln) c.1909G>C (p.Glu637Gln) c.2005G>C (p.Glu669Gln) n.424G>C c.1966G>C (p.Glu656Gln) c.1798G>C (p.Glu600Gln) | ClinVar dbSNP |
| 21 | g.25891856C>T | CA127802 | APP | n.2044G>A n.474G>A n.743G>A c.2077G>A (p.Glu693Lys) c.1852G>A (p.Glu618Lys) c.1684G>A (p.Glu562Lys) c.2020G>A (p.Glu674Lys) c.2023G>A (p.Glu675Lys) c.1747G>A (p.Glu583Lys) c.1909G>A (p.Glu637Lys) c.2005G>A (p.Glu669Lys) n.424G>A c.1966G>A (p.Glu656Lys) c.1798G>A (p.Glu600Lys) | ClinVar dbSNP |