Epilepsia paneeli mittekodeerivad geneetilised variandid
Geen | Muutus |
ADSL | c.-49T>C |
AMT | c.-55C>T |
CDKL5 | c.-162-2A>G |
D2HGDH | c.293-23A>G |
MOCS1 | c.*365_*366delAG |
MTHFR | c.1753-18G>A |
MTHFR | c.-13-28_-13-27delCT |
RNASEH2B | c.511-13G>A |
ROGDI | c.46-30_45+37delGGCGGGGC |
SCN1A | c.964+14T>G |
SERAC1 | c.92-165C>T |
SERAC1 | c.92-239G>C |
SLC19A3 | c.980-14A>G |
SLC2A1 | c.680-11G>A |
TBCD | c.1564-12C>G |
TSC2 | c.-30+1G>C |
TSC2 | c.848+281C>T |
TSC2 | c.976-15G>A |
TSC2 | c.2838-122G>A |
TTC19 | c.-42G>T |
ZEB2 | c.-69-1G>A |