Table 2 List of small mutations detected in the course of the study

1

c.157_158dupG [16]

53

p.Asp53Glyfsx110

1

c.160_161insC*

54

p.Leu54ProfsX109

1

c.178delT*

60

p.Tyr60ThrfsX 4

1

c.180C > G [17]

60

p.Tyr60X

1

2

c.291-1G > C [18]

Splice site mutation

1

4

c.474delT*

158

p.Cys158CysfsX3

1

c.481A > T*

161

p.Ile161Phe

1

c.488G > A [19]

163

p.Gly163Asp

1

c.493G > T [19]

165

p.Glu165X

1

580G > A [20]

194

p.Asp194Asn

3

5

c.733C > T*

245

p.Leu245Phe

1

6

c.735-10C > A [19]

Possible splice site mutation

1

c.790_793delTTTG [21]

264

p.Phe264ArgfsX22

1

7

c.876C > G [22]

292

p.Tyr292X

2

c.867_882delGCTTGAGTACGAACCG*

289

p.Met289MetfsX42

1

c.910delC [19]

304

p.Arg304GlyfsX32

2

8

c.921-4_921-2delGCA*

Splice site mutation

1

c.1010_1011delTG [23]

337

p.Val337GlyfsX22

1