| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.45996523A>G | CA225407 | MAPT | c.594A>G (p.Ala198=) c.507A>G (p.Ala169=) c.681A>G (p.Ala227=) n.545A>G c.1857A>G (p.Ala619=) c.1659A>G (p.Ala553=) c.1632A>G (p.Ala544=) c.1686A>G (p.Ala562=) n.635A>G n.5966A>G c.1944A>G (p.Ala648=) c.1770A>G (p.Ala590=) c.1746A>G (p.Ala582=) c.879A>G (p.Ala293=) c.792A>G (p.Ala264=) c.705A>G (p.Ala235=) n.605A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.45996523A= | CA2262095006 | MAPT | c.594A= (p.Ala198=) c.507A= (p.Ala169=) c.681A= (p.Ala227=) n.545A= c.1857A= (p.Ala619=) c.1659A= (p.Ala553=) c.1632A= (p.Ala544=) c.1686A= (p.Ala562=) n.635A= n.5966A= c.1944A= (p.Ala648=) c.1770A= (p.Ala590=) c.1746A= (p.Ala582=) c.879A= (p.Ala293=) c.792A= (p.Ala264=) c.705A= (p.Ala235=) n.605A= | dbSNP |