Frontotemporaalse dementsuse paneeli
mittekodeerivad geneetilised variandid
Geen | Muutus |
APP | c.*331_*332delAT |
APP | c.-49+100C>A |
APP | c.-516C>G |
APP | c.-681G>A |
CSF1R | c.1859-119G>A |
FUS | c.*48G>A |
FUS | c.*59G>A |
FUS | c.*105dupT |
FUS | c.*108C>T |
FUS | c.*110G>A |
FUS | c.*132C>A |
FUS | c.*190C>A |
GRN | c.-9A>G |
GRN | c.-8+3A>T |
GRN | c.-8+3A>G |
GRN | c.-8+5G>C |
MAPT | c.1774-15T>C |
MAPT | c.1866+11T>C |
MAPT | c.1866+12C>T |
MAPT | c.1866+13A>G |
MAPT | c.1866+14C>T |
MAPT | c.1866+15A>C |
MAPT | c.1866+16C>T |
MAPT | c.1866+19C>G |
PSEN1 | c.869-23_869-22insTGGAATTTTGTGCTGTTG |
SIGMAR1 | c.*51G>T |
SNCA | c.*464C>A |
TARDBP | c.*83T>C |
TARDBP | c.*697G>A |
VCP | c.-360G>C |