Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.46018726A>T | CA225492 | MAPT | c.1019A>T (p.Lys340Ile) c.932A>T (p.Lys311Ile) c.1106A>T (p.Lys369Ile) n.332A>T n.290A>T n.524A>T c.2282A>T (p.Lys761Ile) c.1991A>T (p.Lys664Ile) c.926A>T (p.Lys309Ile) c.1055A>T (p.Lys352Ile) c.2057A>T (p.Lys686Ile) c.839A>T (p.Lys280Ile) c.2111A>T (p.Lys704Ile) c.1013A>T (p.Lys338Ile) n.885A>T n.6298A>T c.2369A>T (p.Lys790Ile) c.2276A>T (p.Lys759Ile) c.2195A>T (p.Lys732Ile) c.2171A>T (p.Lys724Ile) c.2078A>T (p.Lys693Ile) c.1304A>T (p.Lys435Ile) c.1217A>T (p.Lys406Ile) c.1130A>T (p.Lys377Ile) c.771+4448A>T (n.771+4448A>T) n.937A>T | ClinVar dbSNP |
17 | g.46018726A= | CA2262104758 | MAPT | c.1019A= (p.Lys340=) c.932A= (p.Lys311=) c.1106A= (p.Lys369=) n.332A= n.290A= n.524A= c.2282A= (p.Lys761=) c.1991A= (p.Lys664=) c.926A= (p.Lys309=) c.1055A= (p.Lys352=) c.2057A= (p.Lys686=) c.839A= (p.Lys280=) c.2111A= (p.Lys704=) c.1013A= (p.Lys338=) n.885A= n.6298A= c.2369A= (p.Lys790=) c.2276A= (p.Lys759=) c.2195A= (p.Lys732=) c.2171A= (p.Lys724=) c.2078A= (p.Lys693=) c.1304A= (p.Lys435=) c.1217A= (p.Lys406=) c.1130A= (p.Lys377=) c.771+4448A= (n.771+4448A=) n.937A= | dbSNP |