| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46018645A>T | CA225485 | MAPT | c.938A>T (p.Glu313Val) c.851A>T (p.Glu284Val) c.1025A>T (p.Glu342Val) n.796A>T n.251A>T n.209A>T n.443A>T c.2201A>T (p.Glu734Val) c.1910A>T (p.Glu637Val) c.845A>T (p.Glu282Val) c.974A>T (p.Glu325Val) c.1976A>T (p.Glu659Val) c.758A>T (p.Glu253Val) c.2030A>T (p.Glu677Val) c.932A>T (p.Glu311Val) n.804A>T n.6217A>T c.2288A>T (p.Glu763Val) c.2195A>T (p.Glu732Val) c.2114A>T (p.Glu705Val) c.2090A>T (p.Glu697Val) c.1997A>T (p.Glu666Val) c.1223A>T (p.Glu408Val) c.1136A>T (p.Glu379Val) c.1049A>T (p.Glu350Val) c.771+4367A>T (n.771+4367A>T) n.856A>T | ClinVar dbSNP |
| 17 | g.46018645A= | CA2262104730 | MAPT | c.938A= (p.Glu313=) c.851A= (p.Glu284=) c.1025A= (p.Glu342=) n.796A= n.251A= n.209A= n.443A= c.2201A= (p.Glu734=) c.1910A= (p.Glu637=) c.845A= (p.Glu282=) c.974A= (p.Glu325=) c.1976A= (p.Glu659=) c.758A= (p.Glu253=) c.2030A= (p.Glu677=) c.932A= (p.Glu311=) n.804A= n.6217A= c.2288A= (p.Glu763=) c.2195A= (p.Glu732=) c.2114A= (p.Glu705=) c.2090A= (p.Glu697=) c.1997A= (p.Glu666=) c.1223A= (p.Glu408=) c.1136A= (p.Glu379=) c.1049A= (p.Glu350=) c.771+4367A= (n.771+4367A=) n.856A= | dbSNP |