Table 3 New mutations described

c.1318 C > T

c.4648G > T (p.Glu1550X)

c.6757G > T

c.27_28delGG

c.1756_1759delACTA

c.6791-6792insA

c.6757G > T

c.5149A > T (p.Lys1717X)

c.6782C > T

c.5992G > C

c.2709G > A

c.5482G > T

c.1228_1260 + 3del36

c.5546G > A

c.1527 + 1G > T

c.3112A > G

c.3871-1G > T

c.1316 T > C

c.288 + 5G > A

c.4268A > T

c.3974 + 2_3974 + 3delTTinsGG

c.2709G > A

c.1261-1G > C

c.7694C > G