Region | Nucleotide changes | subjects |
---|---|---|
5′-Flanking sequence | g.-258_-253del6 | All members |
Intron 3 | c.486–168 T > C | All members |
Intron 4 | c.630 + 147 C > G | All members |
 | c.631–279 G > C | All members |
 | c.631-161_159del14 | All members |
Intron 5 | c.801 + 144 C > G | All members |
 | c.801 + 257 T > C | All members |
 | c.802–196 T > C | All members |
 | c.802–169 A > G | All members |
Intron 6 | c.882 + 63 T > C | I-2(mother) |
 | c.882 + 114 A > G | All members |
 | c.882 + 131 C > T | All members |
 | c.882 + 195 C > G | All members |
 | c.882 + 277 G > A | All members |
 | c.882 + 367 G > A | I-2(mother), II-2 (patient) |
 | c.882 + 371 A > G | All members |
 | c.883-321G > T a | I-1(father), II-2 (patient) and II-3 (brother) |
Intron 7 | c.1032–164 C > G | All members |
 | c.1032–185 C > T | All members |