Kaasasündinud lihasdüstroofia paneeli
mittekodeerivad geneetilised variandid
Geen | Muutus |
DMD | c.9974+175T>A |
DMD | c.9225-285A>G |
DMD | c.9225-647A>G |
DMD | c.8217+18052A>G |
DMD | c.6614+3310G>T |
DMD | c.4675-11A>G |
DMD | c.3432+2036A>G |
DMD | c.961-5831C>T |
DMD | c.832-15A>G |
DMD | c.650-39498A>G |
DMD | c.265-463A>G |
DMD | c.93+5590T>A |
DMD | c.31+36947G>A |
FKRP | c.-272G>A |
FKTN | c.648-1243G>T |
LAMA2 | c.5071+3104del |
LMNA | c.513+45T>G |
LMNA | c.1609-12T>G |
POMGNT1 | 1284+2_1284+19del18 |
POMT1 | c.-30-2A>G |
SELENON | c.*1107T>C |