Table 3 A summary of the found variants in the non-coding regions of WFS1 gene including flanking sequences and junctions between exons and introns in this study

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