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