| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.45991484G>T | CA8617963 | MAPT | c.367G>T (p.Ala123Ser) c.280G>T (p.Ala94Ser) n.519G>T c.454G>T (p.Ala152Ser) n.318G>T c.1630G>T (p.Ala544Ser) c.1432G>T (p.Ala478Ser) c.1405G>T (p.Ala469Ser) n.408G>T n.5739G>T c.1717G>T (p.Ala573Ser) c.1543G>T (p.Ala515Ser) c.1519G>T (p.Ala507Ser) c.652G>T (p.Ala218Ser) c.565G>T (p.Ala189Ser) c.478G>T (p.Ala160Ser) n.517G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.45991484G>A | CA8617962 | MAPT | c.367G>A (p.Ala123Thr) c.280G>A (p.Ala94Thr) n.519G>A c.454G>A (p.Ala152Thr) n.318G>A c.1630G>A (p.Ala544Thr) c.1432G>A (p.Ala478Thr) c.1405G>A (p.Ala469Thr) n.408G>A n.5739G>A c.1717G>A (p.Ala573Thr) c.1543G>A (p.Ala515Thr) c.1519G>A (p.Ala507Thr) c.652G>A (p.Ala218Thr) c.565G>A (p.Ala189Thr) c.478G>A (p.Ala160Thr) n.517G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.45991484G= | CA2262092867 | MAPT | c.367G= (p.Ala123=) c.280G= (p.Ala94=) n.519G= c.454G= (p.Ala152=) n.318G= c.1630G= (p.Ala544=) c.1432G= (p.Ala478=) c.1405G= (p.Ala469=) n.408G= n.5739G= c.1717G= (p.Ala573=) c.1543G= (p.Ala515=) c.1519G= (p.Ala507=) c.652G= (p.Ala218=) c.565G= (p.Ala189=) c.478G= (p.Ala160=) n.517G= | dbSNP |