| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891792G>A | CA127803 | APP | n.2108C>T n.538C>T n.807C>T c.2141C>T (p.Thr714Ile) c.1916C>T (p.Thr639Ile) c.1748C>T (p.Thr583Ile) c.2084C>T (p.Thr695Ile) c.2087C>T (p.Thr696Ile) c.1811C>T (p.Thr604Ile) c.1973C>T (p.Thr658Ile) c.2069C>T (p.Thr690Ile) n.488C>T c.2030C>T (p.Thr677Ile) c.1862C>T (p.Thr621Ile) | ClinVar dbSNP |
| 21 | g.25891792G= | CA2383551618 | APP | n.2108C= n.538C= n.807C= c.2141C= (p.Thr714=) c.1916C= (p.Thr639=) c.1748C= (p.Thr583=) c.2084C= (p.Thr695=) c.2087C= (p.Thr696=) c.1811C= (p.Thr604=) c.1973C= (p.Thr658=) c.2069C= (p.Thr690=) n.488C= c.2030C= (p.Thr677=) c.1862C= (p.Thr621=) | dbSNP |