| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891785G>C | CA409805552 | APP | n.2115C>G n.545C>G n.814C>G c.2148C>G (p.Ile716Met) c.1923C>G (p.Ile641Met) c.1755C>G (p.Ile585Met) c.2091C>G (p.Ile697Met) c.2094C>G (p.Ile698Met) c.1818C>G (p.Ile606Met) c.1980C>G (p.Ile660Met) c.2076C>G (p.Ile692Met) n.495C>G c.2037C>G (p.Ile679Met) c.1869C>G (p.Ile623Met) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891785G>T | CA9987049 | APP | n.2115C>A n.545C>A n.814C>A c.2148C>A (p.Ile716=) c.1923C>A (p.Ile641=) c.1755C>A (p.Ile585=) c.2091C>A (p.Ile697=) c.2094C>A (p.Ile698=) c.1818C>A (p.Ile606=) c.1980C>A (p.Ile660=) c.2076C>A (p.Ile692=) n.495C>A c.2037C>A (p.Ile679=) c.1869C>A (p.Ile623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891785G>A | CA9987050 | APP | n.2115C>T n.545C>T n.814C>T c.2148C>T (p.Ile716=) c.1923C>T (p.Ile641=) c.1755C>T (p.Ile585=) c.2091C>T (p.Ile697=) c.2094C>T (p.Ile698=) c.1818C>T (p.Ile606=) c.1980C>T (p.Ile660=) c.2076C>T (p.Ile692=) n.495C>T c.2037C>T (p.Ile679=) c.1869C>T (p.Ile623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |