| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46018629G>A | CA225483 | MAPT | c.922G>A (p.Val308Met) c.835G>A (p.Val279Met) c.1009G>A (p.Val337Met) n.780G>A n.235G>A n.193G>A n.427G>A c.2185G>A (p.Val729Met) c.1894G>A (p.Val632Met) c.829G>A (p.Val277Met) c.958G>A (p.Val320Met) c.1960G>A (p.Val654Met) c.742G>A (p.Val248Met) c.2014G>A (p.Val672Met) c.916G>A (p.Val306Met) n.788G>A n.6201G>A c.2272G>A (p.Val758Met) c.2179G>A (p.Val727Met) c.2098G>A (p.Val700Met) c.2074G>A (p.Val692Met) c.1981G>A (p.Val661Met) c.1207G>A (p.Val403Met) c.1120G>A (p.Val374Met) c.1033G>A (p.Val345Met) c.771+4351G>A (n.771+4351G>A) n.840G>A | ClinVar dbSNP |
| 17 | g.46018629G= | CA2262104727 | MAPT | c.922G= (p.Val308=) c.835G= (p.Val279=) c.1009G= (p.Val337=) n.780G= n.235G= n.193G= n.427G= c.2185G= (p.Val729=) c.1894G= (p.Val632=) c.829G= (p.Val277=) c.958G= (p.Val320=) c.1960G= (p.Val654=) c.742G= (p.Val248=) c.2014G= (p.Val672=) c.916G= (p.Val306=) n.788G= n.6201G= c.2272G= (p.Val758=) c.2179G= (p.Val727=) c.2098G= (p.Val700=) c.2074G= (p.Val692=) c.1981G= (p.Val661=) c.1207G= (p.Val403=) c.1120G= (p.Val374=) c.1033G= (p.Val345=) c.771+4351G= (n.771+4351G=) n.840G= | dbSNP |