MutationType	Count	Frequency %
frameshift	4	8.33
frameshift*	2	4.17
in frame deletion	1	2.08
large deletion	1	2.08
missense	14	29.17
nonsens	15	31.25
small deletion	6	12.50
small insertion	3	6.25
splice-site	2	4.17

Exon	Count	Distribution %
	1	2.08
6	4	8.33
7	3	6.25
8	2	4.17
9	38	79.17

Country	Mutation	Frequency %
Belgium	2	4.17
Canada	2	4.17
Dutch	16	33.33
French	2	4.17
Italy	4	8.33
Japan	12	25.00
SPAIN	1	2.08
Tunisia	5	10.42
Turkish	4	8.33

Mutation	Country	Frequency %
c.4108_C>T	1	2.08
c.5836_T>C	1	2.08
c.7504_ C>T	1	2.08
c.9742_T>C	1	2.08
c.12220_G>C	1	2.08
c.3585_del_T	1	2.08
c.8844_del_T	1	2.08
c.7250_del_CAGAA	1	2.08
c.3328_Ins_A	1	2.08
c.4034_Ins_C	1	2.08
c.6834_Ins_A	1	2.08
c.5201del_AG	1	2.08
c,6171_del_T	1	2.08
c.3161_T>C	1	2.08
c.1184_1193_del_gtaacagtgt	1	2.08
c.2060_del_A	1	2.08
c.4033_C>T	1	2.08
c.4192_T>C	1	2.08
c.8739_delA	1	2.08
c.10298del_C	1	2.08
c.11829-11832del_AGTT	1	2.08
c.13645_A>G	1	2.08
c.12973_C>T	1	2.08
c.8107_C>T	1	2.08
c.5988-9 del_ CT	1	2.08
c.3932_T>A	1	2.08
c.12160_C>T	1	2.08
c.2182_C>T	1	2.08
c.5143_A>T	1	2.08
c.4957_G>T	1	2.08
c.5125_C>T	1	2.08
c.963_A>T	1	2.08
c.10906_C>T	1	2.08
c.12993_G>A	1	2.08
c.503_G>T	1	2.08
c.2094-2 A>G	1	2.08
c.1891+1 del G	1	2.08
c.6006_delA	1	2.08
c.del_8401-8403	1	2.08
c.1476 G>A	1	2.08
c.10443_C>T	1	2.08
c.9912_delC	1	2.08
c.7673_C>T	1	2.08
c.1607_C>T	1	2.08
del_1.37Mb	1	2.08
c.483_del_C	1	2.08
c.2405_T>C	1	2.08
c.11374_C>T	1	2.08