| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25897642C>G | CA127797 | APP | n.1962G>C n.392G>C n.661G>C c.1995G>C (p.Glu665Asp) c.1770G>C (p.Glu590Asp) c.1602G>C (p.Glu534Asp) c.1938G>C (p.Glu646Asp) c.1941G>C (p.Glu647Asp) c.1665G>C (p.Glu555Asp) c.1827G>C (p.Glu609Asp) c.1923G>C (p.Glu641Asp) n.342G>C c.1884G>C (p.Glu628Asp) c.1716G>C (p.Glu572Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25897642C>T | CA511686286 | APP | n.1962G>A n.392G>A n.661G>A c.1995G>A (p.Glu665=) c.1770G>A (p.Glu590=) c.1602G>A (p.Glu534=) c.1938G>A (p.Glu646=) c.1941G>A (p.Glu647=) c.1665G>A (p.Glu555=) c.1827G>A (p.Glu609=) c.1923G>A (p.Glu641=) n.342G>A c.1884G>A (p.Glu628=) c.1716G>A (p.Glu572=) | dbSNP gnomAD v4 |
| 21 | g.25897642C>A | CA409806514 | APP | n.1962G>T n.392G>T n.661G>T c.1995G>T (p.Glu665Asp) c.1770G>T (p.Glu590Asp) c.1602G>T (p.Glu534Asp) c.1938G>T (p.Glu646Asp) c.1941G>T (p.Glu647Asp) c.1665G>T (p.Glu555Asp) c.1827G>T (p.Glu609Asp) c.1923G>T (p.Glu641Asp) n.342G>T c.1884G>T (p.Glu628Asp) c.1716G>T (p.Glu572Asp) | dbSNP gnomAD v4 |
| 21 | g.25897642C= | CA2383554941 | APP | n.1962G= n.392G= n.661G= c.1995G= (p.Glu665=) c.1770G= (p.Glu590=) c.1602G= (p.Glu534=) c.1938G= (p.Glu646=) c.1941G= (p.Glu647=) c.1665G= (p.Glu555=) c.1827G= (p.Glu609=) c.1923G= (p.Glu641=) n.342G= c.1884G= (p.Glu628=) c.1716G= (p.Glu572=) | dbSNP |