PAH activity landscapes

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	1692	17.40	landscape
2	p.IVS10-11G>A(;)IVS10-11G>A	237	2.44	landscape
3	p.IVS12+1G>A(;)Arg408Trp	228	2.34	landscape
4	p.Arg261Gln(;)Arg408Trp	228	2.34	landscape
5	p.Arg158Gln(;)Arg408Trp	195	2.01	landscape
6	p.Arg261Gln(;)Arg261Gln	195	2.01	landscape
7	p.Arg408Trp(;)IVS10-11G>A	175	1.80	landscape
8	p.Pro281Leu(;)Arg408Trp	169	1.74
9	p.Pro281Leu(;)Pro281Leu	143	1.47	landscape
10	p.Arg408Trp(;)Tyr414Cys	135	1.39	landscape
11	p.Ala403Val(;)Arg408Trp	123	1.26	landscape
12	p.1066-11G>A(;)1066-11G>A	112	1.15
13	p.Arg408Trp(;)Arg252Trp	79	0.81	landscape
14	p.Leu48Ser(;)Arg408Trp	77	0.79	landscape
15	p.Ala300Ser(;)Arg408Trp	74	0.76	landscape
16	p.Ile306Val(;)Arg408Trp	65	0.67
17	p.Glu390Gly(;)Arg408Trp	62	0.64	landscape
18	p.Arg261Gln(;)IVS10-11G>A	60	0.62
19	p.Tyr414Cys(;)IVS12+1G>A	60	0.62
20	p.Arg408Trp(;)Glu280Lys	58	0.60
21	p.Arg408Trp(;)Asp222Ter	54	0.56
22	p.Leu48Ser(;)Leu48Ser	53	0.54	landscape
23	p.Arg261Ter(;)Arg261Ter	53	0.54
24	p.Pro281Leu(;)IVS10-11G>A	52	0.53	landscape
25	p.168+5G>C(;)168+5G>C	48	0.49
26	p.IVS12+1G>A(;)IVS12+1G>A	44	0.45
27	p.IVS4+5G>T(;)Arg408Trp	44	0.45
28	p.Arg261Gln(;)IVS12+1G>A	43	0.44
29	p.Arg408Trp(;)Arg243Ter	43	0.44
30	p.Arg252Trp(;)Arg252Trp	40	0.41	landscape
31	p.IVS10-11G?>?A(;)IVS10-11G?>?A	35	0.36
32	p.ex5del(;)Arg408Trp	35	0.36
33	p.Glu280Lys(;)Glu280Lys	34	0.35
34	p.Arg408Trp(;)Arg261Ter	33	0.34
35	p.IVS10-11G>A(;)Leu48Ser	29	0.30	landscape
36	p.Arg158Gln(;)Arg158Gln	29	0.30
37	p.Ile65Thr(;)Arg408Trp	28	0.29
38	p.IVS10-11G>A(;)Ala300Ser	28	0.29	landscape
39	p.IVS4+5G>T(;)IVS4+5G>T	28	0.29
40	p.=(;)=	26	0.27
	Total:	9725

patients included from: Kostandyan et al

	Genotype	Patients	Frequency in %
1	p.=(;)=	5	14.71
2	p.=(;)IVS10-11G>A	2	5.88
3	p.IVS10-11G>A(;)IVS10-11G>A	2	5.88	landscape
4	p.=(;)IVS4+5G>T	1	2.94
5	p.Ala403Val(;)IVS10-11G>A	1	2.94
6	p.Arg243Gln(;)IVS10-11G>A	1	2.94
7	p.Arg243Gln(;)Pro281Leu	1	2.94
8	p.Arg243X(;)IVS10-11G>A	1	2.94
9	p.Arg243X(;)Pro281Leu	1	2.94
10	p.Arg261Gln(;)=	1	2.94
11	p.Arg261Gln(;)IVS10-11G>A	1	2.94
12	p.Arg270Lys(;)Arg243X	1	2.94
13	p.Glu390Gly(;)Arg252Trp	1	2.94
14	p.IVS10-11G>A(;)Arg261X	1	2.94
15	p.IVS10-11G>A(;)Arg270Lys	1	2.94
16	p.IVS10-11G>A(;)Asp415Val	1	2.94
17	p.IVS10-11G>A(;)IVS11-2A>G	1	2.94
18	p.IVS10-11G>A(;)Tyr377Asp	1	2.94
19	p.Leu48Ser(;)Pro279Leu	1	2.94
20	p.Leu48Ser,IVS10-11G>A(;)Arg261Gln	1	2.94
21	p.Lys363AsnfsX37(;)Glu280Lys	1	2.94
22	p.Pro281Leu(;)Arg408Trp	1	2.94
23	p.Pro281Leu(;)IVS2+5G>C	1	2.94
24	p.S16X(;)=	1	2.94
25	p.S16X(;)Asp415Val	1	2.94
26	p.S16X(;)IVS10-11G>A	1	2.94
27	p.Tyr198SerfsX136(;)Arg261Gln	1	2.94
28	p.Tyr387His(;)Arg252Trp	1	2.94
	Total:	34

patients included from: Ho et al

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)IVS12+1G>A	6	5.83
2	p.Arg408Trp(;)Arg408Trp	5	4.85
3	p.Phe39Leu(;)Arg408Trp	4	3.88
4	p.Arg158Gln(;)IVS12+1G>A	2	1.94
5	p.Arg243Ter(;)Arg408Trp	2	1.94
6	p.Arg261Gln(;)IVS12+1G>A	2	1.94
7	p.Arg408Trp(;)Tyr414Cys	2	1.94
8	p.Ile65Thr(;)Arg408Trp	2	1.94
9	p.Phe299Cys(;)Arg408Trp	2	1.94
10	p.Phe39Leu(;)IVS12+1G>A	2	1.94
11	p.Ala104Asp(;)Ile269ThrfsTer72	1	0.97
12	p.Ala104Asp(;)Val245Leu	1	0.97
13	p.Ala309Val(;)Arg408Trp	1	0.97
14	p.Ala345Ser(;)Arg408Trp	1	0.97
15	p.Ala403Val(;)Arg408Trp	1	0.97
16	p.Ala47Val(;)Glu280Lys	1	0.97
17	p.Ala90CysfsTer12(;)Ala90CysfsTer12	1	0.97
18	p.Arg111Ter(;)Ala403Val	1	0.97
19	p.Arg111Ter(;)Val388Met	1	0.97
20	p.Arg158Gln(;)Pro281Leu	1	0.97
21	p.Arg158Gln(;)R261Ter	1	0.97
22	p.Arg241Cys(;)Arg261Gln	1	0.97
23	p.Arg243Gln(;)Arg243Gln	1	0.97
24	p.Arg243Ter(;)Arg261Gln	1	0.97
25	p.Arg243Ter(;)IVS12+1G>A	1	0.97
26	p.Arg243Ter(;)IVS8+1G>A	1	0.97
27	p.Arg252Trp(;)IVS10-11G>A	1	0.97
28	p.Arg252Trp(;)IVS12+1G>A	1	0.97
29	p.Arg252Trp(;)IVS8+1G>A	1	0.97
30	p.Arg261Gln(;)Ala403Val	1	0.97
31	p.Arg261Gln(;)Arg261Gln	1	0.97
32	p.Arg261Gln(;)Pro281Leu	1	0.97
33	p.Arg261Gln(;)Ser349Pro	1	0.97
34	p.Arg413Pro(;)Arg413Pro	1	0.97
35	p.Asn167Ile(;)Arg408Trp	1	0.97
36	p.Asp415Asn(;)IVS12+1G>A	1	0.97
37	p.G103C(;)Tyr154Phe	1	0.97
38	p.Glu280Lys(;)IVS12+1G>A	1	0.97
39	p.Glu280Lys(;)Leu348Val	1	0.97
40	p.Glu390Gly(;)Tyr414Cys	1	0.97
41	p.Gly218Val(;)Pro281Leu	1	0.97
42	p.IVS1+5G>T(;)IVS12+1G>A	1	0.97
43	p.IVS10-11G>A(;)Arg408Trp	1	0.97
44	p.IVS10-11G>A(;)Tyr414Cys	1	0.97
45	p.IVS2+1G>A(;)IVS2+1G>A	1	0.97
46	p.IVS2+1G>A(;)Leu249Phe	1	0.97
47	p.IVS2+1G>T(;)Arg111Ter	1	0.97
48	p.IVS2-2A>G(;)Gly272Ter	1	0.97
49	p.IVS4+5G>T(;)Ala395Gly	1	0.97
50	p.IVS5-1G>A(;)IVS10-11G>A	1	0.97
51	p.IVS8+1G>A(;)Arg408Trp	1	0.97
52	p.IVS9+5G>A(;)IVS9+5G>A	1	0.97
53	p.Ile65Thr(;)=	1	0.97
54	p.Ile65Thr(;)Arg261Gln	1	0.97
55	p.Ile65Thr(;)Asp145Val	1	0.97
56	p.Ile65Thr(;)Gly272Ter	1	0.97
57	p.Ile65Thr(;)IVS12+1G>A	1	0.97
58	p.Ile65Thr(;)IVS4+5G>T	1	0.97
59	p.Ile65Thr(;)IVS8+1G>A	1	0.97
60	p.Ile65Thr(;)Ile65Thr	1	0.97
61	p.Ile65Thr(;)Ser273Phe	1	0.97
62	p.Ile95del(;)Ser349Pro	1	0.97
63	p.Leu194Pro(;)Arg408Trp	1	0.97
64	p.Leu348Val(;)IVS12+1G>A	1	0.97
65	p.Leu348Val(;)Tyr414Cys	1	0.97
66	p.Leu48Ser(;)Arg408Trp	1	0.97
67	p.Leu48Ser(;)IVS10-3C>T	1	0.97
68	p.Leu48Ser(;)IVS7+3G>C	1	0.97
69	p.Phe299Cys(;)IVS12+1G>A	1	0.97
70	p.Phe39Leu(;)=	1	0.97
71	p.Phe39Leu(;)Phe299Cys	1	0.97
72	p.Pro281Leu(;)Tyr414Cys	1	0.97
73	p.Ser273Phe(;)Arg408Trp	1	0.97
74	p.Thr380Met(;)IVS12+1G>A	1	0.97
75	p.Trp187Ter(;)IVS12+1G>A	1	0.97
76	p.Tyr154Phe(;)IVS12+1G>A	1	0.97
77	p.Tyr386Cys(;)IVS12+1G>A	1	0.97
78	p.Tyr414Cys(;)Tyr414Cys	1	0.97
79	p.Val245Leu(;)Arg408Gln	1	0.97
80	p.Y168fs(;)IVS7+3G>C	1	0.97
81	p.ex3del(;)Pro281Leu	1	0.97
82	p.ex3del(;)Tyr414Cys	1	0.97
83	p.ex6del(;)Phe299Cys	1	0.97
84	p.ex6del(;)Tyr414Cys	1	0.97
	Total:	103

patients included from: Tresbach et alNeto et al

	Genotype	Patients	Frequency in %
1	p.Ser349Pro(;)Val388Met	4	2.96
2	p.Arg158Gln(;)Val388Met	3	2.22
3	p.IVS2+5G>A(;)IVS10-11G>A	3	2.22
4	p.Arg261Gln(;)IVS10-11G>A	3	2.22	landscape
5	p.Arg261Gln(;)Arg261Gln	3	2.22	landscape
6	p.Arg261Gln(;)Ser349Pro	3	2.22
7	p.Arg261Gln(;)IVS12+1G>A	2	1.48
8	p.Phe39del(;)Val388Met	2	1.48
9	p.G312C(;)IVS12+1G>A	2	1.48
10	p.Gly352ValfsTer48(;)IVS10-11G>A	2	1.48
11	p.Ile65Thr(;)IVS12+1G>A	2	1.48	landscape
12	p.Ile65Thr(;)Arg261Gln	2	1.48
13	p.IVS10-11G>A(;)IVS10-11G>A	2	1.48	landscape
14	p.IVS2+5G>A(;)Val388Met	2	1.48
15	p.Leu348Val(;)Ser349Pro	2	1.48
16	p.Leu62Ter(;)Glu390Gly	2	1.48
17	p.Pro281Leu(;)IVS10-11G>A	2	1.48	landscape
18	p.Pro281Leu(;)Val388Met	2	1.48
19	p.Arg252Trp(;)Arg261Gln	2	1.48
20	p.Arg252Trp(;)Val388Met	2	1.48
21	p.Arg261Gln(;)Tyr414Cys	2	1.48
22	p.Thr323del(;)Val388Met	2	1.48
23	p.Val388Met(;)Val388Met	2	1.48
24	p.Trp187Cys(;)Val388Met	2	1.48
25	p.441+5G>T(;)ex5del	1	0.74
26	p.Arg158Gln(;)441+5G>T	1	0.74
27	p.Arg158Gln(;)Arg261Gln	1	0.74
28	p.Arg158Gln(;)Gly352ValfsTer48	1	0.74
29	p.Arg158Gln(;)IVS12+1G>A	1	0.74
30	p.Arg241His(;)Arg408Trp	1	0.74
31	p.Arg242Trp(;)IVS12+1G>A	1	0.74
32	p.Arg243Gln(;)Arg243Gln	1	0.74
33	p.Arg252Trp(;)Ala342HisfsTer58	1	0.74
34	p.Arg252Trp(;)Arg408Trp	1	0.74
35	p.Arg252Trp(;)IVS10-11G>A	1	0.74
36	p.Arg408Trp(;)Arg408Trp	1	0.74
37	p.Arg408Trp(;)IVS12+1G>A	1	0.74
38	p.Asp84Tyr(;)IVS10-11G>A	1	0.74
39	p.Asp84Tyr(;)IVS11+17G>A	1	0.74
40	p.Asp84Tyr(;)Thr323del	1	0.74
41	p.G332R(;)Val388Met	1	0.74
42	p.Gly46Ser(;)Val388Met	1	0.74
43	p.Gly46Ser(;)ex5del	1	0.74
44	p.Glu390Gly(;)Arg408Trp	1	0.74
45	p.Gly352ValfsTer48(;)Asp415Asn	1	0.74
46	p.Gly352ValfsTer48(;)Tyr414Cys	1	0.74
47	p.Ile65Thr(;)IVS10-11G>A	1	0.74	landscape
48	p.Ile65Thr(;)IVS7+1G>A	1	0.74
49	p.Ile65Thr(;)Arg68Ser	1	0.74
50	p.Ile65Thr(;)Ser349Pro	1	0.74
51	p.Ile65Thr(;)Thr323del	1	0.74
52	p.IVS10-11G>A(;)Glu390Gly	1	0.74
53	p.IVS10-11G>A(;)IVS11+17G>A	1	0.74
54	p.IVS10-11G>A(;)Val388Met	1	0.74
55	p.IVS10-11G>A(;)Tyr414Cys	1	0.74
56	p.IVS2+5G>A(;)Arg261Gln	1	0.74
57	p.IVS2+5G>A(;)Asp415Asn	1	0.74
58	p.IVS2+5G>A(;)IVS11+17G>A	1	0.74
59	p.IVS2+5G>A(;)IVS2+5G>A	1	0.74
60	p.IVS2+5G>A(;)Leu249Phe	1	0.74
61	p.IVS2+5G>A(;)Pro281Leu	1	0.74
62	p.IVS2+5G>A(;)Ser349Pro	1	0.74
63	p.IVS2+5G>A(;)Thr323del	1	0.74
64	p.IVS7+1G>A(;)Val388Met	1	0.74
65	p.Ile65Thr(;)Arg158Trp	1	0.74
66	p.Leu249Phe(;)IVS10-11G>A	1	0.74
67	p.Leu249Phe(;)IVS12+1G>A	1	0.74
68	p.Leu249Phe(;)Arg261Gln	1	0.74
69	p.Leu348Val(;)IVS10-11G>A	1	0.74
70	p.Leu348Val(;)Val388Met	1	0.74
71	p.Leu48Ser(;)IVS10-11G>A	1	0.74	landscape
72	p.Leu249Phe(;)Glu280Lys	1	0.74
73	p.Leu311Pro(;)IVS12+1G>A	1	0.74
74	p.Leu348Val(;)IVS12+1G>A	1	0.74
75	p.Leu348Val(;)Tyr414Cys	1	0.74
76	p.Leu62Ter(;)Leu62Ter	1	0.74
77	p.Pro281Leu(;)Thr323del	1	0.74
78	p.Phe55LeufsTer6(;)R261Ter	1	0.74
79	p.Pro175Arg(;)Arg252Trp	1	0.74
80	p.Arg158Gln(;)Leu348Val	1	0.74
81	p.Arg158Gln(;)Arg158Gln	1	0.74
82	p.Arg158Gln(;)Y206Ter	1	0.74
83	p.R176Ter(;)Arg252Trp	1	0.74
84	p.R176Ter(;)Val388Met	1	0.74
85	p.Arg252Trp(;)IVS11+17G>A	1	0.74
86	p.Arg252Trp(;)Leu348Val	1	0.74
87	p.Arg252Trp(;)Pro281Leu	1	0.74
88	p.Arg252Trp(;)Arg270Lys	1	0.74
89	p.Arg252Trp(;)Ser349Pro	1	0.74
90	p.Arg252Trp(;)Tyr414Cys	1	0.74
91	p.Arg261Gln(;)Gly352ValfsTer48	1	0.74
92	p.Arg261Gln(;)Arg408Trp	1	0.74	landscape
93	p.Arg261Gln(;)Thr323del	1	0.74
94	p.Arg261Gln(;)Val388Met	1	0.74
95	p.Arg270Lys(;)Val388Met	1	0.74
96	p.Arg408Trp(;)Arg408Gln	1	0.74
97	p.Arg68Ser(;)IVS12+1G>A	1	0.74	landscape
98	p.Thr238Pro(;)Gly272Ter	1	0.74
99	p.Thr323del(;)IVS10-11G>A	1	0.74
100	p.Thr323del(;)Ser349Pro	1	0.74
101	p.Tyr168SerfsTer27(;)Tyr168SerfsTer27	1	0.74
102	p.Val388Met(;)Glu390Gly	1	0.74
103	p.Y166Ter(;)Y166Ter	1	0.74
104	p.ex5del(;)Arg261Gln	1	0.74
	Total:	135

patients included from: Hamilton et al

	Genotype	Patients	Frequency in %
1	p.Val388Met(;)Val388Met	4	6.35
2	p.Ex5del(;)Ex5del	3	4.76
3	p.IVS10-11G>A(;)Ex5del	3	4.76
4	p.IVS10-11G>A(;)IVS8-7A>G	3	4.76
5	p.Val388Met(;)Glu280Lys	3	4.76
6	p.IVS10-11G>A(;)IVS10-11G>A 2	2	3.17
7	p.IVS10-11G>A(;)Val388Met	2	3.17
8	p.IVS10-3C>T(;)Val388Met	2	3.17
9	p.IVS4+5G>T(;)Val388Met	2	3.17
10	p.IVS8-7A>G(;)Ex5del	2	3.17
11	p.IVS8-7A>G(;)Ser349Pro	2	3.17
12	p.Arg243Gln(;)Glu280Lys	2	3.17
13	p.Arg252Trp(;)Ex5del	2	3.17
14	p.Arg261Gln(;)Val388Met	2	3.17
15	p.Glu280Lys(;)IVS12+1G>A	1	1.59
16	p.Glu280Lys(;)Asn401_Ser439del	1	1.59
17	p.Glu390Gly(;)IVS2+5G>A	1	1.59
18	p.Ex5del(;)IVS11+5G>A	1	1.59
19	p.IVS10-11G>A(;)IVS10-3C>T	1	1.59
20	p.IVS10-11G>A(;)Pro275Arg	1	1.59
21	p.IVS10-11G>A(;)Arg158Gln	1	1.59
22	p.IVS10-3C>T(;)IVS4+5G>T	1	1.59
23	p.IVS10-3C>T(;)IVS7+1G>A	1	1.59
24	p.IVS4+5G>T(;)IVS10-11G>A	1	1.59
25	p.IVS6-7A>T(;)IVS6-7A>T	1	1.59
26	p.IVS8-7A>G(;)IVS7+1G>A	1	1.59
27	p.Leu249PhefsTer92(;)Val388Met	1	1.59
28	p.Pro275Arg(;)Ex5del	1	1.59
29	p.Pro275Arg(;)Pro275Arg	1	1.59
30	p.Pro281Leu(;)Ex5del	1	1.59
31	p.Arg111Ter(;)Thr278Asn	1	1.59
32	p.Arg176Leu(;)Pro281Leu	1	1.59
33	p.Arg252Trp(;)IVS10-3C>T	1	1.59
34	p.Arg252Trp(;)Pro281Leu	1	1.59
35	p.Arg252Trp(;)Val388Met	1	1.59
36	p.Arg261Gln(;)Glu390Gly	1	1.59
37	p.Arg261Gln(;)Ex5del	1	1.59
38	p.Arg261Gln(;)Pro281Leu	1	1.59
39	p.Arg261Gln(;)Arg243Gln	1	1.59
40	p.Arg261Gln(;)Arg261Gln	1	1.59	landscape
41	p.Thr278Asn(;)Val388Met	1	1.59
42	p.Val388Met(;)Ex5del	1	1.59
43	p.Tyr414Cys(;)Ex5del	1	1.59
	Total:	63

patients included from: Su et al (genotypes with 1 or > 2 variants excluded)

	Genotype	Patients	Frequency in %
1	p.IVS13-2G>A(;)IVS13-2G>A	3	3.41
2	p.Arg261Gln(;)Arg261Gln	3	3.41	landscape
3	p.Ser70del(;)Ser70del	3	3.41
4	p.Ala104Asp(;)Ala104Asp	2	2.27
5	p.Ala104Asp(;)IVS12-2A>C	2	2.27
6	p.Ala434Asp(;)Ala434Asp	2	2.27
7	p.IVS10-11G>A(;)Ala300Ser	2	2.27	landscape
8	p.IVS10-11G>A(;)IVS10-11G>A	2	2.27	landscape
9	p.Arg413Pro(;)Arg261Ter	2	2.27
10	p.Arg413Pro(;)Arg413Pro	2	2.27
11	p.Ala104Asp(;)Ala300Ser	1	1.14
12	p.Ala104Asp(;)Ala434Asp	1	1.14
13	p.Ala104Asp(;)Arg241His	1	1.14
14	p.Ala104Asp(;)Arg252Trp	1	1.14
15	p.Ala104Asp(;)Val230Ile	1	1.14
16	p.Ala300Ser(;)Glu390Gly	1	1.14
17	p.Ala434Asp(;)Asp435Val	1	1.14
18	p.Glu182Lys(;)IVS13-2G>A	1	1.14
19	p.Glu390Gly(;)Asp116Hisfs*29	1	1.14
20	p.Glu390Gly(;)Val399=	1	1.14
21	p.Tyr204Cys(;)Ala259Val	1	1.14
22	p.Tyr204Cys(;)Tyr204Cys	1	1.14
23	p.Phe161Ser(;)Tyr204Cys	1	1.14
24	p.Phe161Ser(;)Phe161Ser	1	1.14
25	p.Gln267Leu(;)Gln267Leu	1	1.14
26	p.IVS10-11G>A(;)Ala434Asp	1	1.14
27	p.IVS10-11G>A(;)Glu368Lys	1	1.14
28	p.IVS10-11G>A(;)IVS12-2A>C	1	1.14
29	p.IVS11+1G>C(;)IVS11+1G>C	1	1.14
30	p.IVS12-2A>C(;)Pro147Leu	1	1.14
31	p.IVS13-2G>A(;)Ala300Ser	1	1.14
32	p.IVS8-7A>G(;)IVS8-7A>G	1	1.14
33	p.Leu255Ser(;)Leu348Val	1	1.14
34	p.Leu348Val(;)Leu348Val	1	1.14
35	p.Leu48Ser(;)Leu48Ser	1	1.14	landscape
36	p.Pro119Ser(;)Asp394His	1	1.14
37	p.Pro119Ser(;)Arg243Gln	1	1.14
38	p.Pro147Leu(;)Pro147Leu	1	1.14
39	p.Pro89Thr(;)Pro89Thr	1	1.14
40	p.Arg111Ter(;)IVS11+1G>C	1	1.14
41	p.Arg111Ter(;)Arg111Ter	1	1.14
42	p.Arg111Ter(;)Arg243Gln	1	1.14
43	p.Arg158Gln(;)Tyr204Cys	1	1.14
44	p.Arg241His(;)Arg261Ter	1	1.14
45	p.Arg243Ter(;)IVS12-2A>C	1	1.14
46	p.Arg243Ter(;)Pro281Leu	1	1.14
47	p.Arg243Gln(;)Asp296Gly	1	1.14
48	p.Arg243Gln(;)Glu182Lys	1	1.14
49	p.Arg243Gln(;)IVS10-11G>A	1	1.14
50	p.Arg243Gln(;)IVS12-2A>C	1	1.14
51	p.Arg243Gln(;)IVS13-2G>A	1	1.14
52	p.Arg243Gln(;)Leu430Pro	1	1.14
53	p.Arg243Gln(;)Thr380Met	1	1.14
54	p.Arg261Ter(;)Arg261Ter	1	1.14	landscape
55	p.Arg408Trp(;)IVS11+1G>C	1	1.14
56	p.Arg408Trp(;)Pro119Ser	1	1.14
57	p.Arg408Trp(;)Arg408Trp	1	1.14	landscape
58	p.Arg413Pro(;)Ala104Asp	1	1.14
59	p.Arg413Pro(;)Glu280Lys	1	1.14
60	p.Arg413Pro(;)IVS13-2G>A	1	1.14
61	p.Arg413Pro(;)Leu11Ter	1	1.14
62	p.Arg413Pro(;)Arg243Gln	1	1.14
63	p.Arg413Pro(;)Val230Ile	1	1.14
64	p.Arg53His(;)Ala300Ser	1	1.14
65	p.Arg53His(;)Leu197Ter	1	1.14
66	p.Arg53His(;)Arg243Gln	1	1.14
67	p.Arg53His(;)Arg53His	1	1.14
68	p.Thr418Pro(;)Thr418Pro	1	1.14
69	p.Val230Ile(;)Glu370Gly	1	1.14
70	p.Val230Ile(;)Arg408Gln	1	1.14
71	p.Val230Ile(;)Thr418Pro	1	1.14
72	p.Val399=(;)IVS11+1G>C	1	1.14
73	p.Val399=(;)Arg243Gln	1	1.14
74	p.Tyr166Ter(;)Tyr166Ter	1	1.14
75	p.Tyr356Ter(;)Glu182Lys	1	1.14
	Total:	88

patients included from: Karacic et al

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	15	19.48	landscape
2	p.Leu48Ser(;)Arg408Trp	8	10.39	landscape
3	p.Glu390Gly(;)Arg408Trp	6	7.79	landscape
4	p.Pro281Leu(;)Arg408Trp	5	6.49	landscape
5	p.Arg158Gln(;)Arg408Trp	5	6.49	landscape
6	p.Arg261Gln(;)Arg408Trp	5	6.49	landscape
7	p.IVS12+1G>A(;)Arg408Trp	4	5.19	landscape
8	p.Leu48Ser(;)Arg158Gln	4	5.19	landscape
9	p.Leu48Ser(;)Arg261Gln	4	5.19	landscape
10	p.Pro281Leu(;)Glu390Gly	3	3.90
11	p.K363>Nfs(;)Arg261Gln	2	2.60
12	p.Leu249Pro(;)Leu249Pro	2	2.60
13	p.Leu48Ser(;)Leu48Ser	2	2.60	landscape
14	p.Glu390Gly(;)Phe55LeufsTer6	1	1.30
15	p.Glu390Gly(;)Leu249Pro	1	1.30
16	p.Ile306Val(;)Arg111Ter	1	1.30
17	p.Ile306Val(;)Arg261Ter	1	1.30
18	p.Ile306Val(;)Arg408Trp	1	1.30
19	p.Leu249Pro(;)Pro281Leu	1	1.30
20	p.Leu249Pro(;)Arg158Gln	1	1.30
21	p.Leu249Pro(;)Arg408Trp	1	1.30
22	p.Leu48Ser(;)IVS4+5G>T	1	1.30
23	p.Leu48Ser(;)Pro281Leu	1	1.30
24	p.Arg408Trp(;)Phe39del	1	1.30
25	p.Arg408Trp(;)Arg241Cys,Val245Ala	1	1.30
	Total:	77

patients included from: Georgiou et al

	Genotype	Patients	Frequency in %
1	p.Ser70Pro(;)Arg241His	2	16.67
2	p.IVS2+5G>C(;)Ala395Gly	2	16.67
3	p.Phe55LeufsTer6(;)Ala403Val	1	8.33
4	p.Pro225Thr(;)Glu178Gly	1	8.33
5	p.Arg158Gln(;)Ala300Ser	1	8.33
6	p.IVS10-11G>A(;)Ala403Val	1	8.33
7	p.IVS10-11G>A(;)Ala395Gly	1	8.33
8	p.IVS2+5G>C(;)Glu178Gly	1	8.33
9	p.ex3 del(;)Asp222Gly	1	8.33
10	p.ex3 del(;)Ala395Gly	1	8.33
	Total:	12

patients included from: Reblova et al

	Genotype	Patients	Frequency in %
1	p.Ala300Ser(;)Arg408Trp	2	4.35	landscape
2	p.Ala403Val(;)Arg408Trp	2	4.35	landscape
3	p.Asp129Gly(;)Arg408Trp	2	4.35
4	p.Phe55LeufsTer6(;)Arg408Trp	2	4.35
5	p.Ile306Val(;)Arg158Gln	2	4.35
6	p.Ile65Thr(;)Arg408Trp	2	4.35
7	p.Arg158Gln(;)Pro281Leu	2	4.35
8	p.Arg408Trp(;)Gly272Ter	2	4.35
9	p.Val190Ala(;)Arg270Lys	2	4.35
10	p.Ala403Val(;)ex5 del4232ins268	1	2.17
11	p.Glu390Gly(;)Arg408Trp	1	2.17	landscape
12	p.Phe39Leu(;)Arg408Trp	1	2.17
13	p.Phe39del(;)ex5 del4232ins268	1	2.17
14	p.Ile283Phe(;)Arg408Trp	1	2.17	landscape
15	p.Ile306Val(;)Gly272Ter	1	2.17
16	p.Ile306Val(;)Arg408Trp	1	2.17	landscape
17	p.Ile65Thr(;)Arg261Gln	1	2.17
18	p.Lys396Arg(;)Arg408Trp	1	2.17
19	p.Leu308Phe(;)Pro281Leu	1	2.17
20	p.Leu308Phe(;)Arg252Trp	1	2.17
21	p.Leu48Ser(;)Arg158Gln	1	2.17	landscape
22	p.Leu48Ser(;)IVS12+1G>A	1	2.17
23	p.Pro281Leu(;)ex5 del4232ins268	1	2.17
24	p.Arg158Gln(;)Arg158Gln	1	2.17
25	p.Arg158Gln(;)Arg408Trp	1	2.17	landscape
26	p.Arg408Trp(;)IVS10-11G>A	1	2.17	landscape
27	p.Arg408Trp(;)Arg243Ter	1	2.17
28	p.Arg408Trp(;)Arg408Trp	1	2.17	landscape
29	p.Arg408Trp(;)Thr186HisfsTer9	1	2.17
30	p.Arg408Trp(;)IVS10-3C>T	1	2.17
31	p.Arg408Trp(;)IVS12+1G>A	1	2.17
32	p.Arg408Trp(;)ex 3 del 4765	1	2.17
33	p.Arg408Trp(;)ex 3 del 955	1	2.17
34	p.Tyr387His(;)Ala395Pro	1	2.17
35	p.Tyr414Cys(;)Phe263Ser	1	2.17
36	p.Tyr414Cys(;)IVS10-11G>A	1	2.17
37	p.Tyr414Cys(;)Tyr414Cys	1	2.17
	Total:	46

patients included from: Bayat et al.

	Genotype	Patients	Frequency in %
1	p.IVS12+1G>A(;)Arg408Trp	32	8.51	landscape
2	p.IVS12+1G>A(;)Tyr414Cys	28	7.45	landscape
3	p.IVS12+1G>A(;)IVS12+1G>A	21	5.59
4	p.Arg408Trp(;)Arg408Trp	19	5.05	landscape
5	p.Arg408Trp(;)Tyr414Cys	13	3.46	landscape
6	p.IVS12+1G>A(;)IVS10-11G>A	9	2.39
7	p.Arg408Trp(;)IVS10-11G>A	7	1.86	landscape
8	p.IVS12+1G>A(;)Arg158Gln	6	1.60
9	p.Tyr414Cys(;)Tyr414Cys	6	1.60
10	p.IVS12+1G>A(;)Ala104Asp	5	1.33
11	p.IVS12+1G>A(;)Glu280Lys	5	1.33
12	p.IVS12+1G>A(;)Asp415Asn	4	1.06	landscape
13	p.IVS12+1G>A(;)Gly46Ser	4	1.06
14	p.IVS12+1G>A(;)Ile306Val	4	1.06
15	p.IVS12+1G>A(;)Val245Ala	4	1.06
16	p.IVS12+1G>A(;)Tyr356Ter	4	1.06
17	p.Arg408Trp(;)Asp415Asn	4	1.06
18	p.Ala300Ser(;)Ala403Val	3	0.80
19	p.IVS10-11G>A(;)Tyr386Cys	3	0.80
20	p.IVS12+1G>A(;)Asp222Ter	3	0.80
21	p.IVS12+1G>A(;)Leu348Val	3	0.80
22	p.IVS12+1G>A(;)Arg261Gln	3	0.80
23	p.IVS12+1G>A(;)Arg68Ser	3	0.80	landscape
24	p.Pro281Leu(;)Tyr414Cys	3	0.80
25	p.Arg408Trp(;)=	3	0.80
26	p.Asp222Ter(;)Arg408Gln	2	0.53
27	p.Glu280Lys(;)Arg408Trp	2	0.53
28	p.Phe39Leu(;)Ile306Val	2	0.53
29	p.Gly46Ser(;)Tyr414Cys	2	0.53
30	p.Ile306Val(;)Tyr414Cys	2	0.53
31	p.IVS10-11G>A(;)IVS10-11G>A	2	0.53	landscape
32	p.IVS10-11G>A(;)Tyr414Cys	2	0.53
33	p.IVS12+1G>A(;)Asp282Asn	2	0.53
34	p.IVS12+1G>A(;)Phe39Leu	2	0.53
35	p.IVS12+1G>A(;)Ile174Thr	2	0.53
36	p.IVS12+1G>A(;)Ile65Thr	2	0.53	landscape
37	p.IVS12+1G>A(;)Thr63_His64delinsProAsn	2	0.53
38	p.IVS12+1G>A(;)=	2	0.53
39	p.IVS7+4A>G(;)Tyr414Cys	2	0.53
40	p.Arg261Gln(;)Glu182Gly	2	0.53
41	p.Arg158Gln(;)Asp282Asn	2	0.53
42	p.Arg158Gln(;)Phe39Leu	2	0.53
43	p.Arg158Gln(;)IVS10-11G>A	2	0.53
44	p.Arg408Gln(;)Ala300Ser	2	0.53
45	p.Arg408Trp(;)Ala104Asp	2	0.53
46	p.Arg408Trp(;)Glu390Gly	2	0.53	landscape
47	p.Arg408Trp(;)Gly272Ter	2	0.53
48	p.Arg408Trp(;)Arg261Gln	2	0.53	landscape
49	p.Arg408Trp(;)Val245Ala	2	0.53	landscape
50	p.Ser349Ala(;)Ser349Ala	2	0.53
51	p.Tyr414Cys(;)Glu390Gly	2	0.53
52	p.Tyr414Cys(;)IVS10+3A>G	2	0.53
53	p.Tyr414Cys(;)Arg68Ser	2	0.53
54	p.Ala104Asp(;)Tyr414Cys	1	0.27
55	p.Ala300Ser(;)=	1	0.27
56	p.Ala395Gly(;)Ala403Val	1	0.27
57	p.Ala403Val(;)Ala403Val	1	0.27
58	p.Asp282Asn(;)Asp282Asn	1	0.27
59	p.Asp282Asn(;)Asp222Ter	1	0.27
60	p.Asp282Asn(;)=	1	0.27
61	p.Asp282Asn(;)Tyr414Cys	1	0.27
62	p.Glu178Gly(;)Val245Met	1	0.27
63	p.Asp222Ter(;)Glu280Lys	1	0.27
64	p.Asp222Ter(;)Tyr414Cys	1	0.27
65	p.Glu280Lys(;)Pro281Leu	1	0.27
66	p.Glu390Gly(;)Ala403Val	1	0.27
67	p.Phe39Leu(;)Asp415Asn	1	0.27
68	p.Phe39Leu(;)Phe39Leu	1	0.27
69	p.Phe39Leu(;)Ser87Arg	1	0.27
70	p.Phe39Leu(;)Tyr414Cys	1	0.27
71	p.Phe410Ser(;)Ile306Val	1	0.27
72	p.Gly218Val(;)IVS10-11G>A	1	0.27
73	p.Gly272Ter(;)Asp282Asn	1	0.27
74	p.Gly272Ter(;)Asp415Asn	1	0.27
75	p.Gly272Ter(;)Gly46Ser	1	0.27
76	p.Gly272Ter(;)Val177Leu	1	0.27
77	p.Ile224Thr(;)Ile224Thr	1	0.27
78	p.Ile283Phe(;)Asp415Asn	1	0.27
79	p.Ile306Val(;)Ile306Val	1	0.27
80	p.Ile65Thr(;)Gln336Ter	1	0.27
81	p.IVS1+5G>T(;)Ala104Asp	1	0.27
82	p.IVS1+5G>T(;)Ala322Thr	1	0.27
83	p.IVS1+5G>T(;)Asp415Asn	1	0.27
84	p.IVS1+5G>T(;)Arg261Gln	1	0.27
85	p.IVS1+5G>T(;)Arg408Trp	1	0.27
86	p.IVS10-11G>A(;)Ala104Asp	1	0.27
87	p.IVS10-11G>A(;)Asp145Val	1	0.27
88	p.IVS10-11G>A(;)Glu390Gly	1	0.27
89	p.IVS10-11G>A(;)IVS7+1G>A	1	0.27
90	p.IVS10-11G>A(;)Leu348Val	1	0.27
91	p.IVS10-11G>A(;)Thr380Met	1	0.27
92	p.IVS10-11G>A(;)=	1	0.27
93	p.IVS10-11G>A(;)c.1-?_168+?del	1	0.27
94	p.IVS12+1G>A(;)Ala300Ser	1	0.27
95	p.IVS12+1G>A(;)Ala342Thr	1	0.27
96	p.IVS12+1G>A(;)Ala395Pro	1	0.27
97	p.IVS12+1G>A(;)Ala47Val	1	0.27
98	p.IVS12+1G>A(;)Glu390Gly	1	0.27
99	p.IVS12+1G>A(;)Phe410Ile	1	0.27
100	p.IVS12+1G>A(;)Gly272Ter	1	0.27
101	p.IVS12+1G>A(;)Leu347Serfs*533	1	0.27
102	p.IVS12+1G>A(;)IVS1+5G>T	1	0.27
103	p.IVS12+1G>A(;)IVS11+4A>G	1	0.27
104	p.IVS12+1G>A(;)IVS7+1G>A	1	0.27
105	p.IVS12+1G>A(;)Lys363AsnfsTer37	1	0.27
106	p.IVS12+1G>A(;)Leu308Val	1	0.27
107	p.IVS12+1G>A(;)Leu48Ser	1	0.27
108	p.IVS12+1G>A(;)Pro281Leu	1	0.27
109	p.IVS12+1G>A(;)Arg111Ter	1	0.27
110	p.IVS12+1G>A(;)Arg252Trp	1	0.27
111	p.IVS12+1G>A(;)Thr380Met	1	0.27
112	p.IVS12+1G>A(;)Val388Met	1	0.27
113	p.IVS2-13T>G(;)IVS2-13T>G	1	0.27
114	p.IVS7+1G>A(;)Arg408Trp	1	0.27
115	p.IVS9+5G>A(;)Ala300Ser	1	0.27
116	p.Leu333Phe(;)Ser110Leu	1	0.27
117	p.Leu348Val(;)Leu348Val	1	0.27
118	p.Leu348Val(;)Thr380Met	1	0.27
119	p.Leu348Val(;)Tyr414Cys	1	0.27
120	p.Leu48Ser(;)Ala300Ser	1	0.27
121	p.Leu98Ser(;)Leu98Ser	1	0.27
122	p.Pro281Leu(;)Ala104Asp	1	0.27
123	p.Pro281Leu(;)IVS8-7A>G	1	0.27
124	p.Pro281Leu(;)Pro281Leu	1	0.27	landscape
125	p.Pro281Leu(;)Arg243Ter	1	0.27
126	p.Arg111Ter(;)Pro281Leu	1	0.27
127	p.Arg158Gln(;)Ala104Asp	1	0.27
128	p.Arg158Gln(;)Asp415Asn	1	0.27
129	p.Arg158Gln(;)P244S	1	0.27
130	p.Arg158Gln(;)Phe39del	1	0.27
131	p.Arg158Trp(;)Tyr386Cys	1	0.27
132	p.Arg243Gln(;)Ala403Val	1	0.27
133	p.Arg243Ter(;)Leu48Ser	1	0.27
134	p.Arg243Ter(;)Arg243Ter	1	0.27
135	p.Arg243Ter(;)Val245Glu	1	0.27
136	p.Arg252Trp(;)Arg252Trp	1	0.27	landscape
137	p.Arg261Gln(;)Ala403Val	1	0.27
138	p.Arg261Gln(;)Glu390Gly	1	0.27
139	p.Arg261Gln(;)Ile174Thr	1	0.27
140	p.Arg261Ter(;)Ile306Val	1	0.27
141	p.Arg408Gln(;)Val230Ile	1	0.27
142	p.Arg408Trp(;)Ala322Thr	1	0.27
143	p.Arg408Trp(;)Ala403Val	1	0.27	landscape
144	p.Arg408Trp(;)Asp129Tyr	1	0.27
145	p.Arg408Trp(;)Asp222Ter	1	0.27
146	p.Arg408Trp(;)Ile65Thr	1	0.27
147	p.Arg408Trp(;)Leu348Val	1	0.27	landscape
148	p.Arg408Trp(;)Arg158Gln	1	0.27	landscape
149	p.Arg408Trp(;)Arg176Leu	1	0.27
150	p.Arg408Trp(;)Arg241His	1	0.27	landscape
151	p.Arg408Trp(;)Ser349Pro	1	0.27
152	p.Arg408Trp(;)Ser349Ter	1	0.27
153	p.Arg408Trp(;)S403V	1	0.27
154	p.Arg408Trp(;)Ser87Arg	1	0.27
155	p.Arg408Trp(;)Val177Leu	1	0.27
156	p.Arg408Trp(;)c.284_286delTCA	1	0.27
157	p.Ser16Ter(;)Leu48Ser	1	0.27
158	p.Thr124Ile(;)Leu348Val	1	0.27
159	p.Thr266Glu(;)Arg408Trp	1	0.27
160	p.Thr380Met(;)Thr380Met	1	0.27
161	p.Val177Leu(;)Val177Leu	1	0.27
162	p.Val230Ile(;)IVS4+5G>T	1	0.27
163	p.Val230Ile(;)Tyr414Cys	1	0.27
164	p.Val245Glu(;)Thr63_His64delinsProAsn	1	0.27
165	p.Trp120Ter(;)Tyr414Cys	1	0.27
166	p.Tyr356Ter(;)Asp415Asn	1	0.27
167	p.Tyr356Ter(;)Tyr414Cys	1	0.27
168	p.Tyr414Cys(;)A309T	1	0.27
169	p.Tyr414Cys(;)Ala403Val	1	0.27
170	p.Tyr414Cys(;)=	1	0.27
171	p.Tyr414Cys(;)Val245Ala	1	0.27
172	p.IVS12+1G>A(;)Ala403Val	1	0.27
173	p.IVS12+1G>A(;)Arg158Gly	1	0.27
174	p.Phe39del(;)Glu178Lys	1	0.27
	Total:	376

patients included from: Lillevali et al

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	58	61.70	landscape
2	p.Arg408Trp(;)Leu48Ser	4	4.26	landscape
3	p.Arg408Trp(;)Arg252Trp	4	4.26	landscape
4	p.Arg408Trp(;)Arg261Gln	4	4.26	landscape
5	p.Arg408Trp(;)IVS12+1G>A	3	3.19	landscape
6	p.Arg408Trp(;)Ala300Ser	2	2.13	landscape
7	p.Arg408Trp(;)Asp222Ter	2	2.13
8	p.Arg408Trp(;)Glu280Lys	2	2.13
9	p.Arg408Trp(;)Ile306Val	2	2.13	landscape
10	p.Arg408Trp(;)Pro281Leu	2	2.13	landscape
11	p.=(;)=	2	2.13
12	p.Leu48Ser(;)Glu280Lys	1	1.06
13	p.Arg158Gln(;)IVS12+1G>A	1	1.06
14	p.Arg408Trp(;)Ala403Val	1	1.06	landscape
15	p.Arg408Trp(;)Glu390Gly	1	1.06	landscape
16	p.Arg408Trp(;)Ile65Thr	1	1.06
17	p.Arg408Trp(;)Q355_T356insGLQ / IVS10-11G>A	1	1.06
18	p.Arg408Trp(;)Ser349Pro	1	1.06
19	p.Arg408Trp(;)noDAN	1	1.06
20	p.Arg408Trp(;)=	1	1.06
	Total:	94

patients included from: own dataJeannesson-Thivisol et al

	Genotype	Patients	Frequency in %
1	p.Arg261Gln(;)Arg261Gln	15	3.23	landscape
2	p.IVS10-11G>A(;)IVS10-11G>A	14	3.02	landscape
3	p.Arg408Trp(;)Arg408Trp	13	2.80	landscape
4	p.Ile65Thr(;)IVS10-11G>A	12	2.59	landscape
5	p.Glu280Lys(;)Glu280Lys	11	2.37
6	p.Arg261Gln(;)IVS10-11G>A	11	2.37	landscape
7	p.Arg261Gln(;)Arg408Trp	10	2.16	landscape
8	p.Arg261Gln(;)IVS12+1G>A	10	2.16
9	p.Arg408Trp(;)Tyr414Cys	10	2.16	landscape
10	p.Tyr414Cys(;)IVS12+1G>A	10	2.16
11	p.Ile65Thr(;)Ala403Val	9	1.94
12	p.Arg158Gln(;)IVS10-11G>A	8	1.72
13	p.Ala403Val(;)Arg408Trp	7	1.51	landscape
14	p.Gly352ValfsTer48(;)Gly352ValfsTer48	7	1.51
15	p.Ile65Thr(;)Arg261Gln	7	1.51
16	p.Leu48Ser(;)Leu48Ser	7	1.51	landscape
17	p.Arg408Trp(;)IVS12+1G>A	7	1.51
18	p.Gly352ValfsTer48(;)IVS10-11G>A	6	1.29
19	p.Ile65Thr(;)Arg158Gln	5	1.08
20	p.IVS10-11G>A(;)Tyr414Cys	4	0.86
21	p.IVS10-11G>A(;)IVS11+1G>C	3	0.65
22	p.IVS10-11G>A(;)IVS12+1G>A	3	0.65
23	p.Leu48Ser(;)IVS10-11G>A	3	0.65
24	p.Pro281Leu(;)IVS12+1G>A	3	0.65
25	p.Ala165Thr(;)Ala165Thr	2	0.43
26	p.Ala259Val(;)Arg408Trp	2	0.43
27	p.Ala259Val(;)IVS10-11G>A	2	0.43
28	p.Ala300Ser(;)IVS12+1G>A	2	0.43
29	p.Arg243Gln(;)Gly352ValfsTer48	2	0.43
30	p.Arg243Gln(;)IVS8+1G>A	2	0.43
31	p.Arg261Gln(;)Gly272Ter	2	0.43
32	p.Arg261Gln(;)IVS7+1G>A	2	0.43
33	p.Arg261Gln(;)Ser349Pro	2	0.43
34	p.Arg408Gln(;)Tyr414Cys	2	0.43
35	p.Arg68Ser(;)Arg408Trp	2	0.43
36	p.Glu280Lys(;)IVS10-3C>T	2	0.43
37	p.Gly272Ter(;)Glu390Gly	2	0.43
38	p.IVS2+5G>C(;)Arg261Gln	2	0.43
39	p.IVS4+5G>T(;)Arg158Gln	2	0.43
40	p.IVS4+5G>T(;)Arg261Gln	2	0.43
41	p.IVS7+3G>C(;)IVS7+3G>C	2	0.43
42	p.Ile224Thr(;)Ile224Thr	2	0.43
43	p.Ile65Thr(;)Arg408Trp	2	0.43
44	p.Ile65Thr(;)Glu390Gly	2	0.43
45	p.Ile65Thr(;)Pro281Leu	2	0.43
46	p.Leu48Ser(;)Arg261Gln	2	0.43
47	p.Leu48Ser(;)Phe55LeufsTer6	2	0.43
48	p.Phe39del(;)IVS12+1G>A	2	0.43
49	p.Phe55LeufsTer6(;)IVS4+5G>T	2	0.43
50	p.Pro211Thr(;)Arg261Gln	2	0.43
51	p.Pro281Leu(;)Leu348Val	2	0.43
52	p.Pro281Leu(;)Pro281Leu	2	0.43
53	p.Pro281Leu(;)Tyr414Cys	2	0.43
54	p.Ser349Ala(;)Ser349Ala	2	0.43
55	p.Ser349Pro(;)Val388Met	2	0.43
56	p.=(;)=	1	0.22
57	p.Ala104Asp(;)Arg408Trp	1	0.22
58	p.Ala104Asp(;)IVS4-5C>G	1	0.22
59	p.Ala165Pro(;)Glu390Gly	1	0.22
60	p.Ala259Val(;)Ex10_13del	1	0.22
61	p.Ala300Ser(;)IVS10-11G>A	1	0.22
62	p.Ala300Ser(;)Ser349Pro	1	0.22
63	p.Ala403Val(;)IVS12+1G>A	1	0.22
64	p.Ala90CysfsTer12(;)Pro281Leu	1	0.22
65	p.Arg111Ter(;)Arg261Gln	1	0.22
66	p.Arg111Ter(;)Arg408Trp	1	0.22
67	p.Arg155Pro(;)Arg408Gln	1	0.22
68	p.Arg155Pro(;)Ex6del	1	0.22
69	p.Arg158Gln(;)Arg158Gln	1	0.22
70	p.Arg158Gln(;)Arg176Ter	1	0.22
71	p.Arg158Gln(;)Arg408Trp	1	0.22
72	p.Arg158Gln(;)Ex3del	1	0.22
73	p.Arg158Gln(;)Glu390Gly	1	0.22
74	p.Arg158Gln(;)Gly272Ter	1	0.22
75	p.Arg158Trp(;)Arg158Trp	1	0.22
76	p.Arg158Trp(;)Arg252Trp	1	0.22
77	p.Arg158Trp(;)Arg261Pro	1	0.22
78	p.Arg169His(;)IVS10-3C>T	1	0.22
79	p.Arg241Cys(;)Leu311GlyfsTer4	1	0.22
80	p.Arg241His(;)Arg241His	1	0.22
81	p.Arg241His(;)Arg261Gln	1	0.22
82	p.Arg241His(;)His280Ter	1	0.22
83	p.Arg241His(;)IVS10-11G>A	1	0.22
84	p.Arg241His(;)IVS7+1G>A	1	0.22
85	p.Arg243Gln(;)Ala403Val	1	0.22
86	p.Arg243Gln(;)IVS8-7A>G	1	0.22
87	p.Arg243Ter(;)=	1	0.22
88	p.Arg243Ter(;)Arg243Ter	1	0.22
89	p.Arg243Ter(;)IVS10-11G>A	1	0.22
90	p.Arg243Ter(;)IVS8+1G>A	1	0.22
91	p.Arg243Ter(;)Leu348Val	1	0.22
92	p.Arg243Ter(;)Pro281Leu	1	0.22
93	p.Arg252Gln(;)Arg261Gln	1	0.22
94	p.Arg252Gln(;)IVS10-11G>A	1	0.22
95	p.Arg252Trp(;)Ala403Val	1	0.22
96	p.Arg252Trp(;)Glu280Lys	1	0.22
97	p.Arg252Trp(;)Gly352ValfsTer48	1	0.22
98	p.Arg252Trp(;)His280Ter	1	0.22
99	p.Arg252Trp(;)IVS10-11G>A	1	0.22
100	p.Arg252Trp(;)Leu348Val	1	0.22
101	p.Arg252Trp(;)Ser349Ala	1	0.22
102	p.Arg252Trp(;)Tyr414Cys	1	0.22
103	p.Arg261Gln(;)Ala403Val	1	0.22
104	p.Arg261Gln(;)Arg261Pro	1	0.22
105	p.Arg261Gln(;)Ex6del	1	0.22
106	p.Arg261Gln(;)Glu280Lys	1	0.22
107	p.Arg261Gln(;)Gly352ValfsTer48	1	0.22
108	p.Arg261Gln(;)IVS8+1G>A	1	0.22
109	p.Arg261Gln(;)Tyr356Ter	1	0.22
110	p.Arg261Gln(;)Tyr414Cys	1	0.22
111	p.Arg261Gln(;)Val388Met	1	0.22
112	p.Arg261Gly(;)IVS8-7A>G	1	0.22
113	p.Arg261Pro(;)IVS12+1G>A	1	0.22
114	p.Arg261Pro(;)Tyr414Cys	1	0.22
115	p.Arg261Ter(;)Arg261Gln	1	0.22
116	p.Arg261Ter(;)Arg261Ter	1	0.22
117	p.Arg261Ter(;)Arg408Trp	1	0.22
118	p.Arg408Trp(;)=	1	0.22
119	p.Arg408Trp(;)Arg408Gln	1	0.22
120	p.Arg53His(;)=	1	0.22
121	p.Arg68Ser(;)Arg176Ter,IVS6-7A>T	1	0.22
122	p.Arg68Ser(;)Arg68Ser	1	0.22
123	p.Arg68Ser(;)Asn133ArgfsTer61	1	0.22
124	p.Arg68Ser(;)Gly272Ter	1	0.22
125	p.Arg68Ser(;)Gly352ValfsTer48	1	0.22
126	p.Arg68Ser(;)IVS12+1G>A	1	0.22
127	p.Arg68Ser(;)Ser349Pro	1	0.22
128	p.Arg68Ser(;)Tyr204Cys	1	0.22
129	p.Arg68Ser(;)Val388Met	1	0.22
130	p.Asn167Ile(;)IVS10-11G>A	1	0.22
131	p.Asp145Val(;)Arg408Trp	1	0.22
132	p.Asp222Ter(;)IVS8+1G>A	1	0.22
133	p.Asp296Gly(;)Arg408Trp	1	0.22
134	p.Asp415Asn(;)Ex3del	1	0.22
135	p.Gln20His(;)Arg158Gln	1	0.22
136	p.Glu228Lys(;)IVS10-11G>A	1	0.22
137	p.Glu280Lys(;)Ala300Ser	1	0.22
138	p.Glu280Lys(;)Ala403Val	1	0.22
139	p.Glu280Lys(;)Arg408Trp	1	0.22
140	p.Glu280Lys(;)Asp415Asn	1	0.22
141	p.Glu280Lys(;)Gly352ValfsTer48	1	0.22
142	p.Glu280Lys(;)His290Leu	1	0.22
143	p.Glu280Lys(;)IVS10-11G>A	1	0.22
144	p.Glu280Lys(;)IVS7+1G>A	1	0.22
145	p.Glu390Gly(;)=	1	0.22
146	p.Glu390Gly(;)Tyr414Cys	1	0.22
147	p.Glu57Ter(;)Ile65Thr	1	0.22
148	p.Glu66Ter(;)IVS12+1G>A	1	0.22
149	p.Gly218Val(;)Arg270Lys	1	0.22
150	p.Gly218Val(;)IVS10-11G>A	1	0.22
151	p.Gly257Asp(;)Leu311Pro	1	0.22
152	p.Gly272Ter(;)Ala403Val	1	0.22
153	p.Gly272Ter(;)Arg408Trp	1	0.22
154	p.Gly272Ter(;)IVS10-11G>A	1	0.22
155	p.Gly272Ter(;)Leu348Val	1	0.22
156	p.Gly272Ter(;)Ser349Pro	1	0.22
157	p.Gly272Ter(;)Val388Met	1	0.22
158	p.Gly352ValfsTer48(;)Ala403Val	1	0.22
159	p.His271Arg(;)Arg408Trp	1	0.22
160	p.His280AsnfsTer61(;)IVS12+1G>A	1	0.22
161	p.IVS1+5G>A(;)Leu348Val	1	0.22
162	p.IVS10+1G>A(;)Glu390Gly	1	0.22
163	p.IVS10-11G>A(;)=	1	0.22
164	p.IVS10-11G>A(;)Arg408Gln	1	0.22
165	p.IVS10-11G>A(;)Arg408Trp	1	0.22
166	p.IVS10-11G>A(;)Ex6dup	1	0.22
167	p.IVS10-11G>A(;)Val388Met	1	0.22
168	p.IVS10-11G>A(;)Val399Ala	1	0.22
169	p.IVS10-2A>T(;)Glu390Gly	1	0.22
170	p.IVS10-3C>T(;)Asp394Tyr	1	0.22
171	p.IVS11+1G>C(;)IVS11+1G>C	1	0.22
172	p.IVS12+1G>A(;)Ex1del	1	0.22
173	p.IVS2+5G>C(;)Ex1del	1	0.22
174	p.IVS2+5G>C(;)IVS2+5G>C	1	0.22
175	p.IVS4+5G>T(;)Glu280Lys	1	0.22
176	p.IVS4+5G>T(;)IVS4+5G>T	1	0.22
177	p.IVS4+5G>T(;)Pro211Thr	1	0.22
178	p.IVS4+5G>T(;)Ser349Ala	1	0.22
179	p.IVS4-2A>C(;)IVS4-2A>C	1	0.22
180	p.IVS5+1G>A(;)Trp187Ter	1	0.22
181	p.IVS7+1G>A(;)IVS10-11G>A	1	0.22
182	p.IVS8+1G>A(;)Gly352ValfsTer48	1	0.22
183	p.IVS8+1G>A(;)IVS12+1G>A	1	0.22
184	p.IVS8+2T>C(;)Leu348Val	1	0.22
185	p.IVS8-8A>G(;)IVS12+1G>A	1	0.22
186	p.Ile164Thr(;)Tyr414Cys	1	0.22
187	p.Ile65Thr(;)Ala300Ser	1	0.22
188	p.Ile65Thr(;)Arg111Ter	1	0.22
189	p.Ile65Thr(;)Arg176Ter	1	0.22
190	p.Ile65Thr(;)Arg261Pro	1	0.22
191	p.Ile65Thr(;)Arg68Ser	1	0.22
192	p.Ile65Thr(;)Asp129Gly	1	0.22
193	p.Ile65Thr(;)Asp282Asn	1	0.22
194	p.Ile65Thr(;)Glu280Lys	1	0.22
195	p.Ile65Thr(;)Glu390_Ser391delinsGlyGly	1	0.22
196	p.Ile65Thr(;)I306Val	1	0.22
197	p.Ile65Thr(;)IVS7+1G>A	1	0.22
198	p.Ile65Thr(;)IVS8+1G>A	1	0.22
199	p.Ile65Thr(;)Leu311Pro	1	0.22
200	p.Ile65Thr(;)Leu348Val	1	0.22
201	p.Ile65Thr(;)Ser349Pro	1	0.22
202	p.Ile65Thr(;)Tyr277Asp	1	0.22
203	p.Ile95del(;)Asp415Asn	1	0.22
204	p.Ile95del(;)IVS4+5G>T	1	0.22
205	p.Leu194GlufsTer5(;)Leu348Val	1	0.22
206	p.Leu194Pro(;)Pro281Leu	1	0.22
207	p.Leu212Pro(;)IVS10-11G>A	1	0.22
208	p.Leu213Pro(;)Arg243Ter	1	0.22
209	p.Leu213Pro(;)Leu213Pro	1	0.22
210	p.Leu348Val(;)Arg408Trp	1	0.22
211	p.Leu348Val(;)Glu390Gly	1	0.22
212	p.Leu348Val(;)IVS10-11G>A	1	0.22
213	p.Leu348Val(;)Leu348Val	1	0.22
214	p.Leu48Ser(;)Arg176Ter	1	0.22
215	p.Leu48Ser(;)Ex5del	1	0.22
216	p.Leu48Ser(;)Glu183Leu	1	0.22
217	p.Leu48Ser(;)Gly352ValfsTer48	1	0.22
218	p.Leu48Ser(;)Ser349Pro	1	0.22
219	p.Leu48Ser(;)Val388Met	1	0.22
220	p.Leu52CysfsTer9(;)Arg261Ter	1	0.22
221	p.Met1Val(;)Arg261Gln	1	0.22
222	p.Phe299Cys(;)Arg408Trp	1	0.22
223	p.Phe299Cys(;)Ex3del	1	0.22
224	p.Phe39Leu(;)Glu390Gly	1	0.22
225	p.Phe39Leu(;)Gly272Ter	1	0.22
226	p.Phe39Leu(;)Val262Gly	1	0.22
227	p.Phe39del(;)Leu348Val	1	0.22
228	p.Phe55LeufsTer6(;)Arg243Ter	1	0.22
229	p.Phe55LeufsTer6(;)IVS10-11G>A	1	0.22
230	p.Phe55LeufsTer6(;)IVS12+1G>A	1	0.22
231	p.Phe55LeufsTer6(;)Ile65Thr	1	0.22
232	p.Phe55Ser(;)IVS10-11G>A	1	0.22
233	p.Pro211HisfsTer130(;)IVS10-11G>A	1	0.22
234	p.Pro211Thr(;)IVS10-11G>A	1	0.22
235	p.Pro281Leu(;)A309Val	1	0.22
236	p.Pro281Leu(;)Ala300Ser	1	0.22
237	p.Pro281Leu(;)Arg408Trp	1	0.22
238	p.Pro281Leu(;)IVS10-11G>A	1	0.22
239	p.Pro281Ser(;)IVS12+1G>A	1	0.22
240	p.Ser349Pro(;)Asp415Asn	1	0.22
241	p.Ser349Pro(;)Ex5del	1	0.22
242	p.Ser349Pro(;)Glu390Gly	1	0.22
243	p.Ser349Pro(;)IVS10-3C>T	1	0.22
244	p.Ser87Arg(;)IVS10+1G>A	1	0.22
245	p.Thr278Asn(;)IVS12+1G>A	1	0.22
246	p.Thr380Met(;)Asp394Tyr	1	0.22
247	p.Thr380Met(;)Ex1del	1	0.22
248	p.Tyr168Ter(;)Ala300Ser	1	0.22
249	p.Tyr198CysfsTer136(;)IVS9+1G>A	1	0.22
250	p.Tyr216Ter(;)Glu280Lys	1	0.22
251	p.Tyr277Asp(;)IVS10-11G>A	1	0.22
252	p.Tyr277Asp(;)Leu348Val	1	0.22
253	p.Tyr356Ter(;)Val388Met	1	0.22
254	p.Tyr414Cys(;)Ex3del	1	0.22
255	p.Tyr417Asn(;)IVS12+1G>A	1	0.22
256	p.Val177Leu(;)Trp187Ter	1	0.22
257	p.Val190Ala(;)Thr266Pro	1	0.22
258	p.Val245Ala(;)IVS12+1G>A	1	0.22
259	p.Val388Ala(;)Ala403Val	1	0.22
260	p.Val388Met(;)Arg408Gln	1	0.22
261	p.Val388Met(;)Glu390Gly	1	0.22
262	p.Val388Met(;)Val388Met	1	0.22
	Total:	464

patients included from: Gundorova et al

	Genotype	Patients	Frequency in %
1	p.Pro281Leu(;)IVS10-11G>A	18	12.86
2	p.Pro281Leu(;)Pro281Leu	17	12.14
3	p.Arg261Ter(;)Pro281Leu	11	7.86
4	p.IVS10-11G>A(;)IVS10-11G>A	10	7.14	landscape
5	p.Pro281Leu(;)Arg408Trp	5	3.57
6	p.Leu48Ser(;)Pro281Leu	4	2.86
7	p.Pro281Leu(;)Glu390Gly	4	2.86
8	p.Arg252Trp(;)Pro281Leu	3	2.14
9	p.Arg261Gln(;)Pro281Leu	3	2.14
10	p.Arg261Ter(;)IVS10-11G>A	3	2.14
11	p.Arg270Lys(;)IVS10-11G>A	3	2.14
12	p.Arg243Gln(;)Arg261Ter	2	1.43
13	p.Arg261Ter(;)IVS7-5T>C	2	1.43
14	p.Arg270Lys(;)Pro281Leu	2	1.43
15	p.EX5del(;)Pro281Leu	2	1.43
16	p.IVS10-11G>A(;)Arg408Trp	2	1.43
17	p.=(;)	1	0.71
18	p.Ala300Ser(;)IVS10-11G>A	1	0.71
19	p.Arg111Ter(;)Arg261Gln	1	0.71
20	p.Arg241His(;)IVS10-11G>A	1	0.71
21	p.Arg261Gln(;)=	1	0.71
22	p.Arg261Gln(;)Arg261Ter	1	0.71
23	p.Arg261Gln(;)Arg408Trp	1	0.71
24	p.Arg261Gln(;)IVS10-11G>A	1	0.71
25	p.Arg261Ter(;)Arg261Ter	1	0.71
26	p.Arg261Ter(;)Arg408Trp	1	0.71
27	p.Arg270Lys(;)Arg270Lys	1	0.71
28	p.Glu178Gly(;)=	1	0.71
29	p.Glu280Lys(;)Glu280Lys	1	0.71
30	p.Glu280Lys(;)Pro281Leu	1	0.71
31	p.Glu390Gly(;)Lys363AsnfsTer37	1	0.71
32	p.Gly171Arg(;)Arg261Ter	1	0.71
33	p.IVS10-11G>A(;)=	1	0.71
34	p.IVS10-11G>A(;)Glu390Gly	1	0.71
35	p.IVS10-11G>A(;)IVS12+1G>A	1	0.71
36	p.IVS10-11G>A(;)Tyr417Asn	1	0.71
37	p.IVS10-11G>A(;)Val388Met	1	0.71
38	p.IVS2+5G>C(;)Glu280Lys	1	0.71
39	p.IVS2+5G>C(;)IVS10-11G>A	1	0.71
40	p.IVS2+5G>C(;)IVS2+5G>C	1	0.71
41	p.IVS2+5G>C(;)Pro211Thr	1	0.71
42	p.IVS2+5G>C(;)Pro281Leu	1	0.71
43	p.IVS4+1G>A(;)IVS4+1G>A	1	0.71
44	p.IVS4+5G>T(;)Ala300Ser	1	0.71
45	p.IVS9-1G>T(;)IVS10-11G>A	1	0.71
46	p.Leu48Ser(;)=	1	0.71
47	p.Leu48Ser(;)Arg158Gln	1	0.71
48	p.Leu48Ser(;)Arg243Gln	1	0.71
49	p.Leu48Ser(;)Arg261Gln	1	0.71
50	p.Leu48Ser(;)Arg261Ter	1	0.71
51	p.Leu48Ser(;)Arg270Lys	1	0.71
52	p.Leu48Ser(;)Glu390Gly	1	0.71
53	p.Leu48Ser(;)IVS10-11G>A	1	0.71
54	p.Lys363AsnfsTer37(;)Arg261Gln	1	0.71
55	p.Phe55LeufsTer6(;)Phe55LeufsTer6	1	0.71
56	p.Pro119Ser(;)Pro281Leu	1	0.71
57	p.Pro281Leu(;)Ala300Ser	1	0.71
58	p.Pro281Leu(;)Tyr198ValfsTer9	1	0.71
59	p.Pro281Leu(;)Tyr387His	1	0.71
60	p.Pro281Leu(;)Val388Met	1	0.71
61	p.Ser349Pro(;)IVS10-11G>A	1	0.71
62	p.Ser70Pro,Val177Met(;)Pro281Leu	1	0.71
63	p.Tyr198ValfsTer9(;)IVS10-11G>A	1	0.71
64	p.Tyr198ValfsTer9(;)Tyr198ValfsTer9	1	0.71
65	p.Tyr204Cys(;)Tyr204Cys	1	0.71
	Total:	140

patients included from: Gramer et alown dataZschocke (personal communication)UKMuenster Request

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	23	4.66	landscape
2	p.Arg408Trp(;)IVS12+1G>A	18	3.64	landscape
3	p.Arg158Gln(;)Arg408Trp	15	3.04	landscape
4	p.Arg408Trp(;)Tyr414Cys	15	3.04	landscape
5	p.IVS10-11G>A(;)IVS10-11G>A	12	2.43	landscape
6	p.IVS12+1G>A(;)Tyr414Cys	12	2.43	landscape
7	p.Arg408Trp(;)Arg261Gln	10	2.02	landscape
8	p.Arg408Trp(;)IVS10-11G>A	8	1.62	landscape
9	p.Arg408Trp(;)Arg243Ter	8	1.62
10	p.Ala403Val(;)IVS12+1G>A	6	1.21
11	p.IVS12+1G>A(;)Arg261Gln	6	1.21
12	p.Pro281Leu(;)Arg408Trp	6	1.21	landscape
13	p.Arg261Gln(;)Arg261Gln	6	1.21	landscape
14	p.Arg408Trp(;)Ala403Val	6	1.21	landscape
15	p.Arg158Gln(;)Arg158Gln	5	1.01
16	p.Arg261Gln(;)IVS10-11G>A	5	1.01	landscape
17	p.Arg408Trp(;)Leu48Ser	5	1.01	landscape
18	p.Arg408Trp(;)Val245Ala	5	1.01	landscape
19	p.IVS12+1G>A(;)IVS12+1G>A	4	0.81
20	p.Pro281Leu(;)Pro281Leu	4	0.81	landscape
21	p.Arg261Gln(;)Arg243Gln	4	0.81
22	p.Arg408Trp(;)Asn61Asp	4	0.81
23	p.Tyr414Cys(;)Arg261Gln	4	0.81
24	p.Ala403Val(;)IVS10-11G>A	3	0.61
25	p.Ile65Thr(;)Arg158Gln	3	0.61
26	p.Ile65Val(;)IVS12+1G>A	3	0.61
27	p.IVS10-11G>A(;)IVS12+1G>A	3	0.61
28	p.IVS10-11G>A(;)Leu48Ser	3	0.61	landscape
29	p.IVS12+1G>A(;)Asp222Ter	3	0.61
30	p.IVS12+1G>A(;)Leu48Ser	3	0.61
31	p.IVS12+1G>A(;)Arg158Gln	3	0.61
32	p.IVS12+1G>A(;)R242X	3	0.61
33	p.Leu48Ser(;)Pro281Leu	3	0.61
34	p.Arg408Trp(;)Thr380Met	3	0.61
35	p.Arg408Trp(;)Val177Met	3	0.61
36	p.Tyr414Cys(;)Pro281Leu	3	0.61
37	p.Tyr414Cys(;)Tyr414Cys	3	0.61
38	p.Ala300Ser(;)Arg261Ter	2	0.40
39	p.Ala395Gly(;)IVS10-11G>A	2	0.40
40	p.Ala403Val(;)IVS4+5G>T	2	0.40
41	p.Glu390Gly(;)IVS7+1G>A	2	0.40
42	p.IVS2+5G>C(;)Arg408Trp	2	0.40
43	p.Ile306Val(;)Arg408Trp	2	0.40	landscape
44	p.IVS10-11G>A(;)Arg243Ter	2	0.40
45	p.IVS12+1G>A(;)Arg243Ter	2	0.40
46	p.IVS12+1G>A(;)Glu390Gly	2	0.40
47	p.IVS12+1G>A(;)Gly272Ter	2	0.40
48	p.IVS12+1G>A(;)IVS2+5G>C	2	0.40
49	p.IVS12+1G>A(;)IVS8-7A>G	2	0.40
50	p.IVS12+1G>A(;)Pro281Leu	2	0.40
51	p.IVS2-13T>G(;)IVS2-13T>G	2	0.40
52	p.IVS8+1G>A(;)IVS8+1G>A	2	0.40
53	p.Ser16Ter(;)Ser16Ter	2	0.40
54	p.Leu48Ser(;)Leu48Ser	2	0.40	landscape
55	p.Leu48Ser(;)Arg241His	2	0.40
56	p.Pro281Leu(;)Asp84Tyr	2	0.40
57	p.Arg158Gln(;)IVS10-11G>A	2	0.40
58	p.Arg158Gln(;)Val177Leu	2	0.40
59	p.Arg158Gln(;)Val245Ala	2	0.40
60	p.Arg243Gln(;)IVS12+1G>A	2	0.40	landscape
61	p.Arg261Gln(;)Ala300Ser	2	0.40
62	p.Arg261Gln(;)Glu390Gly	2	0.40
63	p.Arg408Trp(;)Lys274AsnfsTer5)	2	0.40
64	p.Arg408Trp(;)Glu390Gly	2	0.40	landscape
65	p.Arg408Trp(;)Arg176Ter	2	0.40
66	p.Arg408Trp(;)Arg243Gln	2	0.40
67	p.Val230Ile(;)Val230Ile	2	0.40
68	p.Tyr414Cys(;)Ala403Val	2	0.40
69	p.Tyr414Cys(;)Glu390Gly	2	0.40
70	p.Tyr414Cys(;)G271X	2	0.40
71	p.Tyr414Cys(;)Arg243Ter	2	0.40
72	p.Tyr414Cys(;)Thr380Met	2	0.40	landscape
73	p.Tyr417His(;)Tyr417His	2	0.40
74	p.Ala342HisfsTer58(;)IVS12+1G>A	1	0.20
75	p.1055delG(;)Ala104Asp	1	0.20
76	p.1055delG(;)IVS1+5G>T	1	0.20
77	p.Phe55LeufsTer6(;)IVS10-1G>A	1	0.20
78	p.Phe55LeufsTer6(;)Arg68Ser	1	0.20
79	p.Trp187GlyfsTer8(;)Ala104Asp	1	0.20
80	p.Lys274AsnfsTer5)(;)Arg241His	1	0.20
81	p.Lys274AsnfsTer5)(;)Arg261Gln	1	0.20
82	p.Leu311Ter(;)IVS12+1G>A	1	0.20
83	p.Lys398=(;)Arg408Trp	1	0.20
84	p.Ala104Asp(;)Leu194Pro	1	0.20
85	p.Ala104Asp(;)Pro281Leu	1	0.20
86	p.Ala104Asp(;)Val245Ala	1	0.20
87	p.Ala246Val(;)Arg408Trp	1	0.20
88	p.Ala300Ser(;)Ala300Ser	1	0.20
89	p.Ala300Ser(;)Ala403Val	1	0.20
90	p.Ala300Ser(;)Phe55Leu	1	0.20
91	p.Ala300Ser(;)IVS12+1G>A	1	0.20
92	p.Ala300Ser(;)Ile65Ser,His170Gln	1	0.20
93	p.Ala300Ser(;)IVS4-5C>G	1	0.20
94	p.Ala300Ser(;)Lys274AsnfsTer5	1	0.20
95	p.Ala300Ser(;)Pro281Leu	1	0.20	landscape
96	p.Ala300Ser(;)Pro366His	1	0.20
97	p.Ala300Ser(;)Arg243Ter	1	0.20
98	p.Ala300Ser(;)Val230Ile	1	0.20
99	p.Ala300Ser(;)delA184	1	0.20
100	p.Ala395Pro(;)Arg408Trp	1	0.20
101	p.Ala395Pro(;)Tyr204Ter	1	0.20
102	p.Ala403Val(;)Ala403Val	1	0.20
103	p.Ala403Val(;)Glu390Gly	1	0.20
104	p.Ala403Val(;)Ile174Val	1	0.20
105	p.Ala403Val(;)Pro281Leu	1	0.20
106	p.Ala403Val(;)Gln355Ter	1	0.20
107	p.Ala403Val(;)Arg158Gln	1	0.20
108	p.Ala403Val(;)Arg243Ter	1	0.20
109	p.Ala403Val(;)Arg252Trp	1	0.20
110	p.Ala403Val(;)Arg261Gln	1	0.20
111	p.Ala403Val(;)Thr380Met	1	0.20
112	p.Asp145Val(;)Tyr414Cys	1	0.20
113	p.Asp415Asn(;)Asp415Asn	1	0.20
114	p.Asp415Asn(;)Glu178Gly	1	0.20
115	p.Asp415Asn(;)Phe39Leu	1	0.20
116	p.Asp84Tyr(;)Arg158Gln	1	0.20
117	p.Glu390Gly(;)? Del.X11	1	0.20
118	p.Glu390Gly(;)Gly272Ter	1	0.20
119	p.Glu390Gly(;)Pro281Leu	1	0.20
120	p.Phe299Cys(;)Arg408Trp	1	0.20
121	p.Phe39Leu(;)Phe299Cys	1	0.20
122	p.Phe39Leu(;)Arg252Trp	1	0.20
123	p.Phe39Leu(;)Arg261Gln	1	0.20
124	p.Gly239Val(;)Gly46Ser	1	0.20
125	p.Gly272Ter(;)Glu178Gly	1	0.20
126	p.Gly272Ter(;)Asn167Ile	1	0.20
127	p.Gly344Ser(;)IVS10-11G>A	1	0.20
128	p.His285Tyr(;)Arg408Trp	1	0.20
129	p.IVS10-1G>A(;)Glu390Gly	1	0.20
130	p.IVS10-3G>A(;)Ser16Ter	1	0.20
131	p.IVS2+5G>C(;)Gly272Ter	1	0.20
132	p.IVS5+1G>A(;)Ala395Pro	1	0.20
133	p.IVS7+1G>A(;)Arg408Trp	1	0.20
134	p.IVS8+1G>A(;)Gly346Arg	1	0.20
135	p.Ile269Asn(;)IVS12+1G>A	1	0.20
136	p.Ile306Val(;)Asp59Val	1	0.20
137	p.Ile306Val(;)IVS12+1G>A	1	0.20
138	p.Ile65Thr(;)Pro281Leu	1	0.20
139	p.Ile65Thr(;)Tyr414Cys	1	0.20
140	p.I94del(;)Pro281Leu	1	0.20
141	p.I94del(;)Tyr414Cys	1	0.20
142	p.IVS10-11G>A(;)Phe55LeufsTer6	1	0.20
143	p.IVS10-11G>A(;)Ala104Asp	1	0.20
144	p.IVS10-11G>A(;)Leu311Pro	1	0.20
145	p.IVS10-11G>A(;)Val245Ala	1	0.20
146	p.IVS12+1G>A(;)Phe39del	1	0.20
147	p.IVS12+1G>A(;)Gly352Arg	1	0.20
148	p.IVS12+1G>A(;)I94del	1	0.20
149	p.IVS12+1G>A(;)Arg241Cys	1	0.20
150	p.IVS12+1G>A(;)Ser87Arg	1	0.20
151	p.IVS12+1G>A(;)Tyr204Ter	1	0.20
152	p.IVS12+1G>A(;)A389P	1	0.20
153	p.IVS12+1G>A(;)Asp415Asn	1	0.20
154	p.IVS12+1G>A(;)Phe39Leu	1	0.20
155	p.IVS12+1G>A(;)Gly148Ser	1	0.20
156	p.IVS12+1G>A(;)Gly239Val	1	0.20
157	p.IVS12+1G>A(;)IVS13+19G>T	1	0.20
158	p.IVS12+1G>A(;)IVS4-5C>G	1	0.20
159	p.IVS12+1G>A(;)Leu348Val	1	0.20
160	p.IVS12+1G>A(;)Val230Ile	1	0.20
161	p.IVS12+1G>A(;)Val245Ala	1	0.20
162	p.IVS12+1G>A(;)del ex6	1	0.20
163	p.IVS7+1>a(;)Arg243Ter	1	0.20
164	p.Lys320Asn(;)IVS8-7A>G	1	0.20
165	p.Lys341Ter(;)Ala403Val	1	0.20
166	p.Leu311Pro(;)I.7+5G>A	1	0.20
167	p.Leu348Val(;)IVS10-11G>A	1	0.20
168	p.Leu348Val(;)Arg243Gln	1	0.20
169	p.Leu48Ser(;)Pro275Arg	1	0.20
170	p.Leu48Ser(;)Arg158Gln	1	0.20	landscape
171	p.Leu48Ser(;)Arg261Gln	1	0.20	landscape
172	p.Pro211Thr(;)Leu48Ser	1	0.20
173	p.Pro225Arg(;)Arg252Trp	1	0.20
174	p.Pro281Leu(;)Phe299Cys	1	0.20
175	p.Pro281Leu(;)IVS10-11G>A	1	0.20	landscape
176	p.Pro281Leu(;)Leu348Val	1	0.20
177	p.Pro281Leu(;)Arg261Ter	1	0.20
178	p.Pro281Leu(;)Val245Ala	1	0.20
179	p.Pro366His(;)IVS10-11G>A	1	0.20
180	p.Gln20Ter(;)Gln20Ter	1	0.20
181	p.Arg158Gln(;)Ala104Asp	1	0.20
182	p.Arg158Gln(;)Glu390Gly	1	0.20
183	p.Arg158Gln(;)Gly272Ter	1	0.20
184	p.Arg158Gln(;)IVS1+5G>T	1	0.20
185	p.Arg158Gln(;)Arg241Cys	1	0.20
186	p.Arg158Gln(;)Arg261Gln	1	0.20
187	p.Arg158Trp(;)Arg408Trp	1	0.20
188	p.Arg158Trp(;)Tyr414Cys	1	0.20
189	p.Arg176Ter(;)Glu390Gly	1	0.20
190	p.Arg176Ter(;)Val245Ala	1	0.20
191	p.Arg176Ter(;)Tyr414Cys	1	0.20
192	p.Arg252Gln(;)Arg408Trp	1	0.20
193	p.Arg261Pro(;)Phe39del	1	0.20
194	p.Arg261Gln(;)Ala104Asp	1	0.20
195	p.Arg261Gln(;)Gly272Ter	1	0.20
196	p.Arg261Gln(;)Ile65Val	1	0.20
197	p.Arg261Gln(;)Lys274AsnfsTer5	1	0.20
198	p.Arg261Gln(;)Asn61Asp	1	0.20
199	p.Arg261Gln(;)Pro281Leu	1	0.20
200	p.Arg261Gln(;)Arg243Ter	1	0.20
201	p.Arg261Gln(;)Val245Ala	1	0.20
202	p.Arg261Gln(;)Tyr166Ter	1	0.20
203	p.Arg261Ter(;)Arg408Trp	1	0.20
204	p.Arg297His(;)Arg158Gln	1	0.20
205	p.Arg408Gln(;)Pro281Leu	1	0.20
206	p.Arg408Trp(;)Asp394His	1	0.20
207	p.Arg408Trp(;)Asp415Asn	1	0.20
208	p.Arg408Trp(;)Glu178Gly	1	0.20
209	p.Arg408Trp(;)Phe327Leu	1	0.20
210	p.Arg408Trp(;)Phe39Leu	1	0.20
211	p.Arg408Trp(;)F39delTCT	1	0.20
212	p.Arg408Trp(;)Phe410Ser	1	0.20
213	p.Arg408Trp(;)Phe55Leu	1	0.20
214	p.Arg408Trp(;)G103D	1	0.20
215	p.Arg408Trp(;)Gly148Ser	1	0.20
216	p.Arg408Trp(;)Gly272Ter	1	0.20
217	p.Arg408Trp(;)Gly352Arg	1	0.20
218	p.Arg408Trp(;)I.10+3A>C	1	0.20
219	p.Arg408Trp(;)Ile65Thr	1	0.20
220	p.Arg408Trp(;)Ile94Ser	1	0.20
221	p.Arg408Trp(;)IVS11-9G>A	1	0.20
222	p.Arg408Trp(;)IVS4-5C>G	1	0.20
223	p.Arg408Trp(;)IVS7nt+1G>A	1	0.20
224	p.Arg408Trp(;)IVS8+1G>A	1	0.20
225	p.Arg408Trp(;)Lys274AsnfsTer5	1	0.20
226	p.Arg408Trp(;)Leu348Val	1	0.20	landscape
227	p.Arg408Trp(;)Pro281Arg	1	0.20
228	p.Arg408Trp(;)Pro281Ser	1	0.20
229	p.Arg408Trp(;)Pro314Ser	1	0.20
230	p.Arg408Trp(;)Arg169His	1	0.20
231	p.Arg408Trp(;)Arg68Ser	1	0.20
232	p.Arg408Trp(;)Ser87Arg	1	0.20
233	p.Arg408Trp(;)Val190Ala	1	0.20
234	p.Arg408Trp(;)Val230Ile	1	0.20
235	p.Arg408Trp(;)Val388Met	1	0.20	landscape
236	p.Arg408Trp(;)Tyr356Ter	1	0.20
237	p.Arg408Trp(;)Phe39del	1	0.20
238	p.Arg408Trp(;)ex6 del	1	0.20
239	p.Arg68Ser(;)IVS2+5G>C	1	0.20
240	p.Ser231Pro(;)Ser231Pro	1	0.20
241	p.Ser295Ter(;)Tyr414Cys	1	0.20
242	p.Ser349Pro(;)Leu348Val	1	0.20
243	p.Thr380Met(;)Glu280Lys	1	0.20
244	p.Val177Leu(;)Arg408Trp	1	0.20
245	p.Val230Ile(;)Glu390Gly	1	0.20
246	p.Trp187Ter(;)1355^56insA	1	0.20
247	p.Trp187Ter(;)Arg261Ter	1	0.20
248	p.Tyr166Ter(;)Arg408Trp	1	0.20
249	p.Tyr204Ter(;)Arg252Gly	1	0.20
250	p.Tyr356Ter(;)V329A	1	0.20
251	p.Tyr414Cys(;)Asp415Asn	1	0.20
252	p.Tyr414Cys(;)F39delT115	1	0.20
253	p.Tyr414Cys(;)Gly272Ter	1	0.20
254	p.Tyr414Cys(;)IVS10-11G>A	1	0.20
255	p.Tyr414Cys(;)Leu48Ser	1	0.20	landscape
256	p.Tyr414Cys(;)Asn167Tyr	1	0.20
257	p.Tyr414Cys(;)Pro275Leu	1	0.20
258	p.Tyr414Cys(;)Arg158Gln	1	0.20	landscape
259	p.Tyr414Cys(;)Arg243Gln	1	0.20
260	p.Tyr414Cys(;)Ser16Ter	1	0.20
261	p.Tyr414Cys(;)Val245Ala	1	0.20
262	p.Phe55del(;)Ile95del	1	0.20
	Total:	494

patients included from: Zare-Karizi et alBiglari et alShirzadeh et alEsfahani et alAlibakhshi et al

	Genotype	Patients	Frequency in %
1	p.1066-11G>A(;)1066-11G>A	112	12.00
2	p.Arg261Gln(;)Arg261Gln	72	7.72	landscape
3	p.Pro281Leu(;)Pro281Leu	66	7.07	landscape
4	p.168+5G>C(;)168+5G>C	48	5.14
5	p.IVS10-11G?>?A(;)IVS10-11G?>?A	35	3.75
6	p.IVS10-11G>A(;)IVS10-11G>A	26	2.79	landscape
7	p.969+5G>A(;)969+5G>A	23	2.47
8	p.R243Ter(;)R243Ter	22	2.36
9	p.Phe39del(;)Phe39del	15	1.61
10	p.Arg252Trp(;)Arg252Trp	14	1.50	landscape
11	p.R176Ter(;)R176Ter	13	1.39
12	p.441+5G>T(;)441+5G>T	12	1.29
13	p.Glu280Lys(;)Glu280Lys	12	1.29
14	p.=(;)=	11	1.18
15	p.Arg243Ter(;)Arg243Ter	11	1.18
16	p.Arg408Trp(;)Arg408Trp	10	1.07	landscape
17	p.IVS11+1(;)IVS11+1	9	0.96
18	p.Lys363AsnfsTer37(;)Lys363AsnfsTer37	9	0.96
19	p.IVS2+5G>C(;)IVS2+5G>C	8	0.86
20	p.K363NfsTer37(;)K363NfsTer37	8	0.86
21	p.Arg261Gln(;)1066-11G>A	8	0.86
22	p.Arg261Ter(;)Arg261Ter	8	0.86
23	p.Leu48Ser(;)Leu48Ser	7	0.75	landscape
24	p.R261Ter(;)R261Ter	7	0.75
25	p.Arg176Ter(;)Arg176Ter	6	0.64
26	p.Ser231Pro(;)Ser231Pro	6	0.64
27	p.441+5G>T(;)1066-11G>A	5	0.54
28	p.843-5T>C(;)843-5T>C	5	0.54
29	p.1199+1G>C(;)1199+1G>C	4	0.43
30	p.168+5G>C(;)1066-11G>A	4	0.43
31	p.Ala300Ser(;)1066-11G>A	4	0.43
32	p.IVS11+1G†>†C(;)IVS11+1G†>†C	4	0.43
33	p.IVS2+5G†>†C(;)IVS2+5G†>†C	4	0.43
34	p.Leu48Ser(;)Arg261Gln	4	0.43	landscape
35	p.Arg158Gln(;)Arg158Gln	4	0.43
36	p.R176Ter(;)969+5G>A	4	0.43
37	p.Arg243Gln(;)Arg243Gln	4	0.43
38	p.Tyr179His(;)Tyr179His	4	0.43
39	p.(168+73_169-201)_(352+33_370)del(;)(168+73_169-201)_(352+33_370)del	3	0.32
40	p.1066-11G>A(;)Glu280Lys	3	0.32
41	p.168+5G>C(;)Pro281Leu	3	0.32
42	p.441+1G>A(;)441+1G>A	3	0.32
43	p.= (;)=	3	0.32
44	p.Ala300Ser(;)Ala300Ser	3	0.32
45	p.Ala403Val(;)Ala403Val	3	0.32
46	p.Glu390Gly(;)Glu390Gly	3	0.32
47	p.Gly247Asp(;)Gly247Asp	3	0.32
48	p.IVS10-11G>A(;)IVS2+5G>C	3	0.32
49	p.K363Fs(;)K363Fs	3	0.32
50	p.Leu48Ser(;)Ala300Ser	3	0.32
51	p.Pro281Arg(;)Pro281Arg	3	0.32
52	p.Arg252Gln(;)Arg252Gln	3	0.32
53	p.Thr372Ser(;)Thr372Ser	3	0.32
54	p.1066-11G>A(;)969+5G>A	2	0.21
55	p.1066-11G>A(;)=	2	0.21
56	p.1066-11G>A(;)Ala403Val	2	0.21
57	p.1066-11G>A(;)Glu178Gly	2	0.21
58	p.1066-11G>A(;)Leu48Ser	2	0.21
59	p.1066-11G>A(;)Arg241Cys	2	0.21
60	p.1199+1G>C(;)1066-11G>A	2	0.21
61	p.168+5G>C(;)843-5T>C	2	0.21
62	p.510-1G>A(;)510-1G>A	2	0.21
63	p.707-96A>G (;)R243Ter	2	0.21
64	p.969+5G>C(;)969+5G>C	2	0.21
65	p.970-1G>T(;)970-1G>T	2	0.21
66	p.Ala300Ser(;)1199+1G>C	2	0.21
67	p.Ala300Ser(;)843-5T>C	2	0.21
68	p.Ala309Asp(;)Ala309Asp	2	0.21
69	p.Ala403Val(;)Ala300Ser	2	0.21
70	p.F55LfsTer6(;)168+5G>C	2	0.21
71	p.Ile224Thr(;)Ile224Thr	2	0.21
72	p.Ile224Thr(;)Arg252Trp	2	0.21
73	p.Ile283Asn(;)Ile283Asn	2	0.21
74	p.IVS10-11G>A(;)Arg261Gln	2	0.21	landscape
75	p.IVS10-11G>A(;)IVS11+1	2	0.21
76	p.IVS10-11G>A(;)Arg252Trp	2	0.21
77	p.IVS4-1G?>?A(;)IVS4-1G?>?A	2	0.21
78	p.K363NfsTer37(;)Arg261Gln	2	0.21
79	p.Leu48Ser(;)(168+73_169-201)_(352+33_370)del	2	0.21
80	p.M1T(;)Ala300Ser	2	0.21
81	p.Pro281Leu(;)1066-11G>A	2	0.21
82	p.Pro281Leu(;)P69?>?Pfs	2	0.21
83	p.R176Ter(;)Arg261Gln	2	0.21
84	p.Arg241Cys(;)441+5G>T	2	0.21
85	p.Arg243Gln(;)Cys357Arg	2	0.21
86	p.Arg261Gln(;)441+5G>T	2	0.21
87	p.Arg261Gln(;)Pro281Leu	2	0.21
88	p.Arg261Gln(;)Arg252Trp	2	0.21
89	p.Arg408Gln(;)Arg408Gln	2	0.21
90	p.Val230Ile(;)1066-11G>A	2	0.21
91	p.Y198SfsTer136(;)Y198SfsTer136	2	0.21
92	p.Y268C(;)Y268C	2	0.21
93	p.Tyr356Ter(;)IVS2-13T?>?G	2	0.21
94	p.Tyr417Cys(;)Tyr417Cys	2	0.21
95	p.(1-1393_1-405)_(352+33_370)del(;)Arg261Gln	1	0.11
96	p.1028 A>G(;)1028 A>G	1	0.11
97	p.1066-11G>A(;) '=	1	0.11
98	p.1066-11G>A(;)1199-3A>T	1	0.11
99	p.1066-11G>A(;)510-1G>A	1	0.11
100	p.1066-11G>A(;)Glu390Gly	1	0.11
101	p.1066-11G>A(;)M1T	1	0.11
102	p.1066-11G>A(;)N393IfsTer2	1	0.11
103	p.1066-11G>A(;)Arg252Trp	1	0.11
104	p.1066-11G>A(;)Val388Met	1	0.11
105	p.1066-14C>G(;)1066-14C>G	1	0.11
106	p.1066-2A>G(;)1066-2A>G	1	0.11
107	p.1068C>A(Y356Ter)(;)1068C>A(Y356Ter)	1	0.11
108	p.1068C>G(Y356Ter)(;)1068C>G(Y356Ter)	1	0.11
109	p.1199+1G>C(;)R111Ter	1	0.11
110	p.1199-3A>T(;)1199-3A>T	1	0.11
111	p.1200-2A>G(;)1200-2A>G	1	0.11
112	p.1315+1G>A(;)1315+1G>A	1	0.11
113	p.168+5G>C(;)441+1G>C	1	0.11
114	p.168+5G>C(;)969+5G>A	1	0.11
115	p.168+5G>C(;)K363NfsTer37	1	0.11
116	p.168+5G>C(;)Ser350Tyr	1	0.11
117	p.169-13T>G(;)1068C>G(Y356Ter)	1	0.11
118	p.169-13T>G(;)Ala300Ser	1	0.11
119	p.169-1G>A(;)168+5G>C	1	0.11
120	p.169-1G>A(;)169-1G>A	1	0.11
121	p.353-1G>A(;)353-1G>A	1	0.11
122	p.441+1G>C(;)441+1G>C	1	0.11
123	p.441+5G>T(;)1199+1G>C	1	0.11
124	p.441+5G>T(;)707-1G>C	1	0.11
125	p.441+5G>T(;)Asp415Asn	1	0.11
126	p.441+5G>T(;)K363NfsTer37	1	0.11
127	p.441+5G>T(;)Pro281Leu	1	0.11
128	p.441+5G>T(;)Arg241His	1	0.11
129	p.441+5G>T(;)R243Ter	1	0.11
130	p.581T>C(L194R)(;)581T>C(L194R)	1	0.11
131	p.843-5T>C(;)Thr372Ser	1	0.11
132	p.843-5T>C(;)Tyr386Cys	1	0.11
133	p.913-7A>G(;)913-7A>G	1	0.11
134	p.969+5G>A(;)L258R	1	0.11
135	p.970-1G>T(;)510-1G>A	1	0.11
136	p.=(;)Val230Ile	1	0.11
137	p.Ala104Asp(;)Ala104Asp	1	0.11
138	p.Ala300Ser(;)168+5G>C	1	0.11
139	p.Ala300Ser(;)Ala309Asp	1	0.11
140	p.Ala300Ser(;)Glu178Gly	1	0.11
141	p.Ala300Ser(;)F39delTTC	1	0.11
142	p.Ala300Ser(;)IVS10-11G?>?A	1	0.11
143	p.Ala300Ser(;)R111Ter	1	0.11
144	p.Ala300Ser(;)Arg252Gln	1	0.11
145	p.Ala300Ser(;)Thr372Ser	1	0.11
146	p.Ala309Val(;)Ala309Val	1	0.11
147	p.Ala403Val(;)1199+1G>C	1	0.11
148	p.Ala403Val(;)169-13T>G	1	0.11
149	p.Ala403Val(;)510-1G>A	1	0.11
150	p.Ala403Val(;)M1T	1	0.11
151	p.D112H (;)D112H	1	0.11
152	p.D112H(;)D112H	1	0.11
153	p.Asp84Tyr(;)Asp84Tyr	1	0.11
154	p.Glu280Lys(;)969+5G>A	1	0.11
155	p.E370AfsTer25(;)E370AfsTer25	1	0.11
156	p.Glu390Gly(;)C217F	1	0.11
157	p.Glu390Gly(;)K363NfsTer37	1	0.11
158	p.Phe39del(;)Thr380Met	1	0.11
159	p.Phe55Leu(;)Y198SfsTer136	1	0.11
160	p.F55LfsTer6(;)510-1G>A	1	0.11
161	p.F55LfsTer6(;)F55LfsTer6	1	0.11
162	p.His201Gln(;)R243Ter	1	0.11
163	p.His201Arg(;)Ala300Ser	1	0.11
164	p.Ile102Thr(;)Ile102Thr	1	0.11
165	p.Ile102Thr(;)K363NfsTer37	1	0.11
166	p.Ile306Val(;)Ile306Val	1	0.11
167	p.I406M(;)Arg158Gln	1	0.11
168	p.Ile65Thr(;)Ile65Thr	1	0.11
169	p.IVS10-11G>A(;)IVS9+5G>A	1	0.11
170	p.IVS11+1(;)Pro281Leu	1	0.11
171	p.IVS11+1G†>†C(;)Ala300Ser	1	0.11
172	p.IVS11+1G†>†C(;)Arg243Gln	1	0.11
173	p.IVS11+1G†>†C(;)Tyr179His	1	0.11
174	p.IVS2+5G>A(;)IVS2+5G>A	1	0.11
175	p.IVS2+5G>C(;)IVS7-5T>C	1	0.11
176	p.IVS2+5G†>†C(;)Pro281Leu	1	0.11
177	p.IVS4+5G>T(;)IVS4+5G>T	1	0.11
178	p.IVS4+5G†>†T(;)IVS10-11G†>†A	1	0.11
179	p.IVS4+5G†>†T(;)IVS4+5G†>†T	1	0.11
180	p.IVS7+1G>A(;)IVS7+1G>A	1	0.11
181	p.IVS7-5T>C(;)IVS7-5T>C	1	0.11
182	p.IVS7-5T>C(;)Arg176Ter	1	0.11
183	p.IVS7-5T?>?C(;)Arg243Ter	1	0.11
184	p.IVS8-7A>G(;)=	1	0.11
185	p.IVS8-7A>G(;)IVS8-7A>G	1	0.11
186	p.IVS9+5G>A(;)IVS9+5G>A	1	0.11
187	p.IVS9+5G†>†A(;)Arg176Ter	1	0.11
188	p.K363>Nfs(;)K363>Nfs	1	0.11
189	p.K363NfsTer37(;)Ser70Pro	1	0.11
190	p.Leu194Arg(;)Leu194Arg	1	0.11
191	p.Leu213Pro(;)Leu213Pro	1	0.11
192	p.Leu333Phe(;)Leu333Phe	1	0.11
193	p.Leu365del(;)Leu365del	1	0.11
194	p.Leu48Ser(;)1066-3C>T	1	0.11
195	p.Leu48Ser(;)Ala403Val	1	0.11
196	p.Leu48Ser(;)F55LfsTer6	1	0.11
197	p.Leu48Ser(;)IVS2+5G>C	1	0.11
198	p.Leu48Ser(;)Pro281Leu	1	0.11
199	p.Leu48Ser(;)Arg158Gln	1	0.11	landscape
200	p.Leu48Ser(;)R176Ter	1	0.11
201	p.Leu48Ser(;)R261Ter	1	0.11
202	p.Leu48Ser(;)Y198SfsTer136	1	0.11
203	p.M1T(;)M1T	1	0.11
204	p.Pro211HisfsTer130(;)Pro211HisfsTer130	1	0.11
205	p.P211HfsTer130(;)Ala403Val	1	0.11
206	p.P211HfsTer130(;)P211HfsTer130	1	0.11
207	p.Pro211Thr(;)1066-11G>A	1	0.11
208	p.Pro281Leu(;)Asp151Gly	1	0.11
209	p.Pro281Leu(;)IVS10-11G?>?A	1	0.11
210	p.Pro281Leu(;)IVS11+1G>C	1	0.11
211	p.Pro281Leu(;)Arg408Gln	1	0.11
212	p.P416HfsTer36(;)P416HfsTer36	1	0.11
213	p.Gln267His(;)168+5G>C	1	0.11
214	p.Arg155His(;)Arg155His	1	0.11
215	p.Arg158Gln(;)1066-11G>A	1	0.11
216	p.Arg158Gln(;)441+5G>T	1	0.11
217	p.R169PfsTer26(;)R243Ter	1	0.11
218	p.R176Ter(;)1066-11G>A	1	0.11
219	p.Arg176Ter(;)=	1	0.11
220	p.Arg241Cys(;)M1T	1	0.11
221	p.Arg241Cys(;)Arg241Cys	1	0.11
222	p.Arg241His(;)Arg241His	1	0.11
223	p.Arg243Gln(;)Glu280Lys	1	0.11
224	p.Arg243Gln(;)Phe39del	1	0.11
225	p.Arg243Gln(;)IVS2+5G>C	1	0.11
226	p.R243Ter(;)1066-11G>A	1	0.11
227	p.Arg243Ter(;)His201Gln	1	0.11
228	p.Arg252Gln(;)168+5G>C	1	0.11
229	p.Arg252Trp(;)168+5G>C	1	0.11
230	p.Arg252Trp(;)Ala300Ser	1	0.11
231	p.Arg252Trp(;)Ala309Asp	1	0.11
232	p.Arg252Trp(;)F55LfsTer6	1	0.11
233	p.Arg252Trp(;)Thr372Ser	1	0.11
234	p.Arg261Gln(;)843-5T>C	1	0.11
235	p.Arg261Gln(;)Ala300Ser	1	0.11
236	p.Arg261Gln(;)Glu390Gly	1	0.11
237	p.Arg261Gln(;)Pro119Ser	1	0.11
238	p.Arg261Gln(;)R243Ter	1	0.11
239	p.Arg261Gln(;)Arg261Ter	1	0.11
240	p.Arg261Gln(;)Arg408Trp	1	0.11	landscape
241	p.Arg261Gln(;)Thr418Asn	1	0.11
242	p.Arg261Gln(;)Val230Ile	1	0.11
243	p.Arg261Gln(;)Y198SfsTer136	1	0.11
244	p.R261Ter(;)Ala300Ser	1	0.11
245	p.Arg408Gln(;)1066-11G>A	1	0.11
246	p.Arg408Trp(;)IVS10-11G>A	1	0.11	landscape
247	p.Arg413Pro(;)Arg413Pro	1	0.11
248	p.Arg53His(;)=	1	0.11
249	p.Ser110Leu(;)Val230Ile	1	0.11
250	p.Ser231Phe(;)Ala300Ser	1	0.11
251	p.Ser231Pro(;)Ala300Ser	1	0.11
252	p.Ser231Pro(;)Arg261Gln	1	0.11
253	p.Ser350Tyr(;)Ala300Ser	1	0.11
254	p.Ser350Tyr(;)R243Ter	1	0.11
255	p.Ser350Tyr(;)Ser350Tyr	1	0.11
256	p.Ser67Pro(;)Arg261Gln	1	0.11
257	p.Thr372Ser(;)Ala403Val	1	0.11
258	p.Thr380Met(;)(168+73_169-201)_(352+33_370)del	1	0.11
259	p.Thr380Met(;)168+5G>C	1	0.11
260	p.Val230Ala(;)Val230Ala	1	0.11
261	p.Val230Ile(;)168+5G>C	1	0.11
262	p.Val230Ile(;)Arg158Gln	1	0.11
263	p.Val230Ile(;)Ser231Pro	1	0.11
264	p.Val230Ile(;)Val230Ile	1	0.11
265	p.W187GfsTer12(;)W187GfsTer12	1	0.11
266	p.Tyr179His(;)Val230Ile	1	0.11
267	p.Y198D(;)Arg261Gln	1	0.11
268	p.Y198SfsTer136(;)(168+73_169-201)_(352+33_370)del	1	0.11
269	p.Y198SfsTer136(;)1066-11G>A	1	0.11
270	p.Y268C(;)R261Ter	1	0.11
271	p.Tyr343Cys(;)Tyr343Cys	1	0.11
272	p.Tyr356Ter(;)Tyr356Ter	1	0.11
	Total:	933

patients included from: Bercovich et al

	Genotype	Patients	Frequency in %
1	p.IVS10-11G>A(;)IVS10-11G>A	13	8.67	landscape
2	p.IVS2+1G>A(;)IVS2+1G>A	6	4.00
3	p.Leu48Ser(;)Leu48Ser	6	4.00	landscape
4	p.IVS10-11G>A(;)Ala300Ser	5	3.33	landscape
5	p.ex3 del(;)ex3 del	4	2.67
6	p.Ala300Ser(;)Ala403Val	3	2.00
7	p.Ala403Val(;)Ala403Val	3	2.00
8	p.Phe55LeufsTer6(;)Ala403Val	3	2.00
9	p.Phe55LeufsTer6(;)Phe55LeufsTer6	3	2.00
10	p.IVS10-11G>A(;)Leu48Ser	3	2.00	landscape
11	p.IVS4+5G>T(;)IVS4+5G>T	3	2.00
12	p.Arg408Trp(;)Arg408Trp	3	2.00	landscape
13	p.Thr380Met(;)Ala403Val	3	2.00
14	p.IVS10-11G>A(;)Ala403Val	2	1.33
15	p.IVS10-11G>A(;)Arg408Trp	2	1.33	landscape
16	p.IVS2+1G>A(;)Ala403Val	2	1.33
17	p.IVS4+5G>T(;)Ala395Gly	2	1.33
18	p.IVS4+5G>T(;)IVS10-11G>A	2	1.33
19	p.IVS4+5G>T(;)Arg261Gln	2	1.33
20	p.Leu197Phe(;)Leu197Phe	2	1.33
21	p.Leu48Ser(;)Glu178Gly	2	1.33
22	p.Leu48Ser(;)Thr380Met	2	1.33
23	p.Arg241His(;)Ala300Ser	2	1.33
24	p.Arg261Gln(;)Arg261Gln	2	1.33	landscape
25	p.Arg408Trp(;)Ala300Ser	2	1.33	landscape
26	p.Arg408Trp(;)Arg241His	2	1.33	landscape
27	p.Val230Ile(;)Val230Ile	2	1.33
28	p.Ala300Ser(;)Ala300Ser	1	0.67
29	p.Ala395Gly(;)Ala395Gly	1	0.67
30	p.Ala403Val(;)Ile95Phe	1	0.67
31	p.Ala403Val(;)Arg169His	1	0.67
32	p.Asp17Ter(;)Leu48Ser	1	0.67
33	p.Phe39del(;)Val230Ile	1	0.67
34	p.His271Gln(;)His271Gln	1	0.67
35	p.Ile306Val(;)Phe55Leu	1	0.67
36	p.Ile95Phe(;)Thr323del	1	0.67
37	p.IVS10+1G>T(;)Leu48Ser	1	0.67
38	p.IVS10-11G>A(;)Asp415Asn	1	0.67
39	p.IVS10-11G>A(;)His271Gln	1	0.67
40	p.IVS10-11G>A(;)Arg252Trp	1	0.67
41	p.IVS10-11G>A(;)Arg261Gln	1	0.67	landscape
42	p.IVS10-11G>A(;)Ser349Pro	1	0.67
43	p.IVS10-11G>A(;)Ser436ProfsTer16	1	0.67
44	p.IVS10-11G>A(;)Val230Ile	1	0.67
45	p.IVS2+1G>A(;)Leu197Phe	1	0.67
46	p.IVS2+1G>A(;)Arg261Gln	1	0.67
47	p.IVS4+5G>T(;)Ala403Val	1	0.67
48	p.IVS4+5G>T(;)Ile174Val	1	0.67
49	p.IVS4+5G>T(;)Pro211HisfsTer130	1	0.67
50	p.IVS4+5G>T(;)Pro281Leu	1	0.67
51	p.IVS4+5G>T(;)Arg158Gln	1	0.67
52	p.IVS4+5G>T(;)Arg408Trp	1	0.67
53	p.IVS4-5C>G(;)Leu48Ser	1	0.67
54	p.IVS4-5C>G(;)Arg261Pro	1	0.67
55	p.K363fsX37(;)K363fsX37	1	0.67
56	p.K363fsX37(;)Arg408Trp	1	0.67
57	p.Leu369Val(;)Thr380Met	1	0.67
58	p.Leu48Ser(;)Ala403Val	1	0.67
59	p.Pro211HisfsTer130(;)Arg241His	1	0.67
60	p.Pro225Thr(;)Pro225Thr	1	0.67
61	p.Pro281Leu(;)Ala300Ser	1	0.67	landscape
62	p.Pro281Leu(;)Ala403Val	1	0.67
63	p.Pro281Leu(;)Glu178Gly	1	0.67
64	p.Pro281Leu(;)Leu48Ser	1	0.67
65	p.Pro281Leu(;)Pro281Leu	1	0.67	landscape
66	p.Arg158Gln(;)Ile95Phe	1	0.67
67	p.Arg176Ter(;)Leu48Ser	1	0.67
68	p.Arg241His(;)Arg241His	1	0.67
69	p.Arg241His(;)Thr323del	1	0.67
70	p.Arg243Ter(;)Ala300Ser	1	0.67
71	p.Arg243Ter(;)Arg261Gln	1	0.67
72	p.Arg261Gln(;)Ala403Val	1	0.67
73	p.Arg261Gln(;)Glu178Gly	1	0.67
74	p.Arg261Gln(;)Leu48Ser	1	0.67	landscape
75	p.Arg408Trp(;)Glu178Gly	1	0.67
76	p.Arg408Trp(;)Leu48Ser	1	0.67	landscape
77	p.Ser349Pro(;)Ala104Asp	1	0.67	landscape
78	p.Ser349Pro(;)Ala259Val	1	0.67
79	p.Ser349Pro(;)Ala300Ser	1	0.67
80	p.Ser349Pro(;)Leu48Ser	1	0.67
81	p.Ser349Pro(;)Ser349Pro	1	0.67
82	p.Ser349Pro(;)Val230Ile	1	0.67
83	p.Thr117LysfsTer78(;)Thr117LysfsTer78	1	0.67
84	p.Val230Ala(;)Ala300Ser	1	0.67
85	p.Val230Ile(;)Ala403Val	1	0.67
86	p.Val230Ile(;)Leu369Val	1	0.67
87	p.Tyr198Cysfs136(;)Tyr198Cysfs136	1	0.67
88	p.ex3 del(;)Ala300Ser	1	0.67
89	p.ex3 del(;)Ala403Val	1	0.67
90	p.ex3 del(;)Arg241His	1	0.67
91	p.ex3 del(;)Val230Ile	1	0.67
	Total:	150

patients included from: Fiori et alDaniele et alGuzetta et alTrunzo et al

	Genotype	Patients	Frequency in %
1	p.IVS10-11G>A(;)Arg261Gln	10	5.49	landscape
2	p.IVS10-11G>A(;)IVS10-11G>A	7	3.85	landscape
3	p.Leu48Ser(;)Arg261Gln	6	3.30	landscape
4	p.Arg261Gln(;)Arg261Gln	5	2.75	landscape
5	p.Ala403Val(;)Ala403Val	4	2.20
6	p.IVS10-11G>A(;)Pro281Leu	4	2.20	landscape
7	p.Leu48Ser(;)Leu48Ser	4	2.20	landscape
8	p.Arg261Gln(;)Pro281Leu	4	2.20
9	p.Arg261Ter(;)IVS10-11G>A	4	2.20
10	p.Val245Ala(;)Ala403Val	4	2.20
11	p.Val245Ala(;)Arg261Gln	4	2.20
12	p.Pro281Leu(;)Val245Ala	3	1.65
13	p.Arg408Trp(;)Leu48Ser	3	1.65	landscape
14	p.Ala403Val(;)Ala300Ser	2	1.10
15	p.Ile94Ser(;)Ile94Ser	2	1.10
16	p.IVS10-11G>A(;)Ser16Ter	2	1.10
17	p.IVS10-11G>A(;)Ala403Val	2	1.10
18	p.IVS10-11G>A(;)Arg243Ter	2	1.10
19	p.IVS10-11G>A(;)Arg408Trp	2	1.10
20	p.Leu48Ser(;)Arg158Gln	2	1.10	landscape
21	p.Pro281Leu(;)Pro281Leu	2	1.10	landscape
22	p.Arg158Gln(;)Arg261Gln	2	1.10
23	p.Arg261Gln(;)Arg408Gln	2	1.10
24	p.Val245Ala(;)Arg158Gln	2	1.10
25	p.Gly352ValfsTer48(;)Gly352ValfsTer48	2	1.10
26	p.Phe55LeufsTer6(;)Ile95del	1	0.55
27	p.Phe55LeufsTer6(;)Asn223Tyr	1	0.55
28	p.Phe55LeufsTer6(;)Pro366His	1	0.55
29	p.Ala300Ser(;)Leu287Val	1	0.55
30	p.Ala403Val(;)Glu178Gly	1	0.55
31	p.Ala403Val(;)Arg158Gln	1	0.55
32	p.Ala403Val(;)T1903I	1	0.55
33	p.Ala403Val(;)Val388Met	1	0.55
34	p.Ala403Val(;)Tyr414Cys	1	0.55
35	p.Glu178Gly(;)Val230Ile	1	0.55
36	p.Glu390Gly(;)Ala403Val	1	0.55
37	p.Glu390Gly(;)Arg261Gln	1	0.55
38	p.Phe39del(;)Pro366His	1	0.55
39	p.Gly239Ser(;)Ile65Val	1	0.55
40	p.Gly272Ter(;)Pro211Thr	1	0.55
41	p.His290Gln(;)Arg261Gln	1	0.55
42	p.Ile65Thr(;)Ala300Ser	1	0.55
43	p.Ile65Thr(;)IVS10-11G>A	1	0.55	landscape
44	p.Ile65Thr(;)Arg158Gln	1	0.55
45	p.Ile65Val(;)Tyr386Cys	1	0.55
46	p.Phe55LeufsTer6(;)Ala403Val	1	0.55
47	p.IVS10-11G>A(;)Ala300Ser	1	0.55	landscape
48	p.IVS10-11G>A(;)Asp415Asn	1	0.55
49	p.IVS10-11G>A(;)Glu280Lys	1	0.55
50	p.IVS10-11G>A(;)Gly46Ser	1	0.55
51	p.IVS10-11G>A(;)Leu213Pro	1	0.55
52	p.IVS10-11G>A(;)Pro211Thr	1	0.55
53	p.IVS10-11G>A(;)Val230Ile	1	0.55
54	p.IVS10-11G>A(;)Val245Ala	1	0.55
55	p.IVS10-11G>A(;)Tyr414Cys	1	0.55
56	p.IVS10-11G>A(;)Phe39del	1	0.55
57	p.IVS10del546(;)Val245Ala	1	0.55
58	p.IVS10-11G>A(;)Gly257Cys	1	0.55
59	p.IVS10-11G>A(;)IVS7nt1	1	0.55
60	p.IVS10-11G>A(;)Leu48Ser	1	0.55
61	p.IVS2+5G>C(;)Ala300Ser	1	0.55
62	p.IVS4+5G>T(;)Arg155His	1	0.55
63	p.IVS4-5C>G(;)IVS10-11G>A	1	0.55
64	p.IVS4-5C>G(;)IVS4-5C>G	1	0.55
65	p.IVS7+1G>A(;)Val245Ala	1	0.55
66	p.IVS8-7A>G(;)IVS10-11G>A	1	0.55
67	p.Leu287Val(;)Arg261Ter	1	0.55
68	p.Leu48Ser(;)Ala403Val	1	0.55
69	p.Leu48Ser(;)Asp222Gly	1	0.55
70	p.Leu48Ser(;)Asp415Asn	1	0.55
71	p.Leu48Ser(;)Glu390Gly	1	0.55
72	p.Leu48Ser(;)Gln301Pro	1	0.55
73	p.Met276Val(;)Ala300Ser	1	0.55
74	p.Pro281Leu(;)I94del.	1	0.55
75	p.Pro281Leu(;)Arg297His	1	0.55
76	p.Pro281Leu(;)Thr278Asn	1	0.55
77	p.Pro281Leu(;)Thr380Met	1	0.55
78	p.Pro281Leu(;)Trp187Ter	1	0.55
79	p.Pro281Leu(;)Tyr414Cys	1	0.55
80	p.Pro281Leu(;)IVS6-2del	1	0.55
81	p.Arg158Gln(;)Ala104Asp	1	0.55
82	p.Arg158Gln(;)Asp338Tyr	1	0.55
83	p.Arg158Gln(;)Glu178Gly	1	0.55
84	p.Arg158Gln(;)His201Tyr	1	0.55
85	p.Arg158Gln(;)IVS10-11G>A	1	0.55
86	p.Arg158Gln(;)Pro366His	1	0.55
87	p.Arg158Gln(;)Arg176Ter	1	0.55
88	p.Arg176Gln(;)Gly239Ser	1	0.55
89	p.Arg176Ter(;)IVS4+5G>T	1	0.55
90	p.Arg241Cys(;)Ala403Val	1	0.55
91	p.Arg243Ter(;)Phe39del	1	0.55
92	p.Arg252Trp(;)Arg252Trp	1	0.55	landscape
93	p.Arg261Gln(;)Ala300Ser	1	0.55
94	p.Arg261Gln(;)Met276Val	1	0.55
95	p.Arg261Gln(;)Arg53His	1	0.55
96	p.Arg261Gln(;)Tyr386Cys	1	0.55
97	p.Arg261Gln(;)Gly352ValfsTer48	1	0.55
98	p.Arg261Gln(;)IVS7+3G>C	1	0.55
99	p.Arg261Ter(;)Ala403Val	1	0.55
100	p.Arg261Ter(;)Leu48Ser	1	0.55
101	p.Arg408Gln(;)Ala403Val	1	0.55
102	p.Arg408Gln(;)Pro281Leu	1	0.55
103	p.Arg408Gln(;)Arg243Ter	1	0.55
104	p.Arg408Trp(;)Arg408Trp	1	0.55	landscape
105	p.Ser411Ter(;)Asp415Asn	1	0.55
106	p.Ser67Pro(;)Thr92Ile	1	0.55
107	p.Ser67Pro(;)Gly352ValfsTer48	1	0.55
108	p.Thr380Met(;)Arg158Gln	1	0.55
109	p.Thr380Met(;)Val388Met	1	0.55
110	p.Val230Ile(;)Ala403Val	1	0.55
111	p.Val245Ala(;)Ser16Ter	1	0.55
112	p.Val245Ala(;)Phe55LeufsTer6	1	0.55
113	p.Val245Ala(;)IVS9+2insT	1	0.55
114	p.Val245Ala(;)Tyr414Cys	1	0.55
115	p.Tyr168SerfsTer27(;)Arg261Ter	1	0.55
116	p.Tyr198Cysfs*136(;)IVS12+2 T>C	1	0.55
117	p.Tyr198Cysfs*136(;)Arg261Ter	1	0.55
118	p.Tyr198Cysfs*136(;)Tyr414Cys	1	0.55
119	p.Tyr414Cys(;)IVS4+5G>T	1	0.55
120	p.Tyr414Cys(;)Arg261Gln	1	0.55
121	p.Tyr198Cysfs136(;)Tyr198Cysfs136	1	0.55
	Total:	182

patients included from: Odagiri et al

	Genotype	Patients	Frequency in %
1	p.Arg413Pro(;)Arg413Pro	19	5.14
2	p.Arg241Cys(;)Arg413Pro	16	4.32
3	p.Arg53His(;)Arg413Pro	16	4.32
4	p.Arg413Pro(;)=	9	2.43
5	p.IVS4-1G>A(;)Arg413Pro	9	2.43
6	p.Arg53His(;)Arg243Ter	7	1.89
7	p.=(;)=	6	1.62
8	p.Arg111Ter(;)Arg413Pro	6	1.62
9	p.Arg53His(;)=	6	1.62
10	p.Arg53His(;)Thr278Ile	6	1.62
11	p.Arg53His(;)Tyr204Cys	6	1.62
12	p.Arg111Ter(;)=	5	1.35
13	p.Arg241Cys(;)Arg241Cys	5	1.35
14	p.Arg53His(;)Arg111Ter	5	1.35
15	p.Arg53His(;)IVS4-1G>A	5	1.35
16	p.Arg111Ter(;)Arg111Ter	4	1.08
17	p.Arg111Ter(;)Arg243Ter	4	1.08
18	p.Arg241Cys(;)=	4	1.08
19	p.IVS4-1G>A(;)Arg243Ter	4	1.08
20	p.IVS4-1G>A(;)Thr278Ile	4	1.08
21	p.Tyr204Cys(;)Arg243Ter	4	1.08
22	p.Tyr204Cys(;)Arg413Pro	4	1.08
23	p.Arg111Ter(;)Arg241Cys	3	0.81
24	p.Arg111Ter(;)IVS4-1G>A	3	0.81
25	p.Arg241Cys(;)Thr278Ile	3	0.81
26	p.Arg252Pro(;)Arg413Pro	3	0.81
27	p.Arg252Trp(;)Arg252Trp	3	0.81
28	p.Arg252Trp(;)Arg413Pro	3	0.81
29	p.Arg53His(;)Arg241Cys	3	0.81
30	p.Arg53His(;)Arg252Trp	3	0.81
31	p.Arg53His(;)Ex5_6del	3	0.81
32	p.Arg53His(;)Glu57MetfsTer3	3	0.81
33	p.IVS10-14C>G(;)Thr380Met	3	0.81
34	p.IVS4-1G>A(;)IVS4-1G>A	3	0.81
35	p.IVS4-1G>A(;)Tyr204Cys	3	0.81
36	p.Thr278Ile(;)=	3	0.81
37	p.Thr278Ile(;)Arg413Pro	3	0.81
38	p.Tyr204Cys(;)=	3	0.81
39	p.Val388Met(;)Arg413Pro	3	0.81
40	p.Arg111Ter(;)Arg252Trp	2	0.54
41	p.Arg111Ter(;)IVS10-14C>G	2	0.54
42	p.Arg111Ter(;)Val379Ala	2	0.54
43	p.Arg241Cys(;)Arg243Ter	2	0.54
44	p.Arg243Ter(;)=	2	0.54
45	p.Arg243Ter(;)Arg243Ter	2	0.54
46	p.Arg243Ter(;)Arg413Pro	2	0.54
47	p.Arg252Trp(;)=	2	0.54
48	p.Arg252Trp(;)Pro407Ser	2	0.54
49	p.Arg53His(;)Arg53His, Arg252Trp	2	0.54
50	p.Arg53His(;)IVS10-14C>G	2	0.54
51	p.Arg53His(;)Lys184ArgfsTer	2	0.54
52	p.Arg53His(;)Ser70del	2	0.54
53	p.Arg53His(;)Val399=	2	0.54
54	p.Cys217Tyr(;)Val399=	2	0.54
55	p.IVS10-14C>G(;)=	2	0.54
56	p.IVS10-14C>G(;)Arg413Pro	2	0.54
57	p.IVS4-1G>A(;)	2	0.54
58	p.IVS4-1G>A(;)Arg241Cys	2	0.54
59	p.IVS7+1G>A(;)Arg413Pro	2	0.54
60	p.Lys184ArgfsTer(;)Arg413Pro	2	0.54
61	p.Ser70del(;)=	2	0.54
62	p.Ser70del(;)Arg241Cys	2	0.54
63	p.Ser70del(;)Arg413Pro	2	0.54
64	p.Tyr204Cys(;)Thr278Ile	2	0.54
65	p.Tyr356Ter(;)Tyr356Ter	2	0.54
66	p.Ala132Val(;)=	1	0.27
67	p.Ala132Val(;)Arg413Pro	1	0.27
68	p.Ala259Thr(;)Ala259Thr	1	0.27
69	p.Ala309Val(;)=	1	0.27
70	p.Ala373Thr(;)Arg413Pro	1	0.27
71	p.Ala373Thr(;)Thr380Met	1	0.27
72	p.Arg111Ter(;)Arg252Pro	1	0.27
73	p.Arg111Ter(;)Arg261Ter	1	0.27
74	p.Arg111Ter(;)Leu367Pro	1	0.27
75	p.Arg111Ter(;)Pro407Ser	1	0.27
76	p.Arg111Ter(;)Thr278Ile	1	0.27
77	p.Arg111Ter(;)Thr380Met	1	0.27
78	p.Arg111Ter(;)Tyr179Asn	1	0.27
79	p.Arg111Ter(;)Tyr204Cys	1	0.27
80	p.Arg111Ter(;)Val230Ile	1	0.27
81	p.Arg158Trp(;)Thr278Ile	1	0.27
82	p.Arg176Ter(;)=	1	0.27
83	p.Arg176Ter(;)Arg241Cys	1	0.27
84	p.Arg176Ter(;)Arg243Ter	1	0.27
85	p.Arg241Cys(;)Ala373Thr	1	0.27
86	p.Arg241Cys(;)Arg252Pro	1	0.27
87	p.Arg241Cys(;)Arg252Trp	1	0.27
88	p.Arg241Cys(;)Gln301His	1	0.27
89	p.Arg241Cys(;)IVS10-14C>G	1	0.27
90	p.Arg241Cys(;)Leu367Pro	1	0.27
91	p.Arg241Cys(;)Phe402Cys	1	0.27
92	p.Arg241Cys(;)Pro281Ala	1	0.27
93	p.Arg241Cys(;)Pro407Ser	1	0.27
94	p.Arg241Cys(;)Tyr356Ter	1	0.27
95	p.Arg241Cys(;)Val399=	1	0.27
96	p.Arg241His(;)Arg252Trp	1	0.27
97	p.Arg243Ter(;)Ala259Thr	1	0.27
98	p.Arg243Ter(;)Arg408Gln	1	0.27
99	p.Arg243Ter(;)IVS10-2A>T	1	0.27
100	p.Arg252Pro(;)Cys265Tyr	1	0.27
101	p.Arg252Pro(;)Val399=	1	0.27
102	p.Arg252Trp(;)Arg53His, Val399=	1	0.27
103	p.Arg252Trp(;)Asp415Asn	1	0.27
104	p.Arg252Trp(;)Phe402Ile	1	0.27
105	p.Arg252Trp(;)Val379Ala	1	0.27
106	p.Arg261Ter(;)Arg413Pro	1	0.27
107	p.Arg261Ter(;)Cys265Tyr	1	0.27
108	p.Arg261Ter(;)IVS8-7A>G	1	0.27
109	p.Arg413Pro(;)IVS7+1G>T	1	0.27
110	p.Arg413Pro(;)Leu430Pro	1	0.27
111	p.Arg413Pro(;)Val399=	1	0.27
112	p.Arg53His(;)Ala259Thr	1	0.27
113	p.Arg53His(;)Arg158Trp	1	0.27
114	p.Arg53His(;)Arg176Ter	1	0.27
115	p.Arg53His(;)Arg408Trp	1	0.27
116	p.Arg53His(;)Arg413Cys	1	0.27
117	p.Arg53His(;)Ile421Thr	1	0.27
118	p.Arg53His(;)Phe402Ile	1	0.27
119	p.Arg53His(;)Pro281Leu	1	0.27
120	p.Arg53His(;)Val412Pro	1	0.27
121	p.Arg53His, Ala132Val(;)Arg53His, Arg413Pro	1	0.27
122	p.Arg53His, Arg158Trp(;)Arg53His , Arg158Trp	1	0.27
123	p.Arg53His,Pro69Arg(;)Arg53His,Asn93Ile	1	0.27
124	p.Arg71His(;)Thr278Ile	1	0.27
125	p.Asp84ValfsTer(;)Tyr204Cys	1	0.27
126	p.Ex5_6del(;)Arg408Gln	1	0.27
127	p.Gln267Leu(;)Arg413Pro	1	0.27
128	p.Gly247Arg(;)Arg413Pro	1	0.27
129	p.Gly312ValfsTer(;)Arg413Pro	1	0.27
130	p.His271Gln(;)Arg413Pro	1	0.27
131	p.His107Arg(;)Arg111Ter	1	0.27
132	p.IVS10-11G>A(;)=	1	0.27
133	p.IVS10-14C>G(;)IVS10-14C>G	1	0.27
134	p.IVS11+1G>T(;)=	1	0.27
135	p.IVS2-6(;)IVS10-7C>A	1	0.27
136	p.IVS3-1G>A(;)Thr278Ile	1	0.27
137	p.IVS4-1G>A(;)Ala202Val	1	0.27
138	p.IVS4-1G>A(;)Ala259Thr	1	0.27
139	p.IVS4-1G>A(;)Ala345Thr	1	0.27
140	p.IVS4-1G>A(;)Arg252Trp	1	0.27
141	p.IVS4-1G>A(;)Arg297Cys	1	0.27
142	p.IVS4-1G>A(;)Gln375Glu	1	0.27
143	p.IVS4-1G>A(;)Pro407Ser	1	0.27
144	p.IVS4-1G>A(;)Thr380Met	1	0.27
145	p.IVS7+5G>A(;)IVS7+5G>A	1	0.27
146	p.Ile174Asn(;)Glu280Lys	1	0.27
147	p.Leu52Ser(;)Ex5_6del	1	0.27
148	p.Lys115ThrfsTer(;)Arg413Pro	1	0.27
149	p.Lys115ThrfsTer(;)IVS10-14C>G	1	0.27
150	p.Lys431Asn(;)=	1	0.27
151	p.Phe55Leu(;)Tyr154Asn	1	0.27
152	p.Pro219Ser(;)Arg413Pro	1	0.27
153	p.Pro225Leu(;)IVS10-14C>G	1	0.27
154	p.Pro281Leu(;)Arg413Pro	1	0.27
155	p.Pro407Ser(;)Arg413Pro	1	0.27
156	p.Ser16Ter(;)Ala403Val	1	0.27
157	p.Ser16Ter(;)Arg243Ter	1	0.27
158	p.Ser67Cys(;)=	1	0.27
159	p.Ser70Phe(;)Pro407Ser	1	0.27
160	p.Ser70Pro(;)IVS4-1G>A	1	0.27
161	p.Ser70del(;)Gln375Glu	1	0.27
162	p.Ser70del(;)IVS10-14C>G	1	0.27
163	p.Thr278Ile(;)Asp415His	1	0.27
164	p.Thr278Ile(;)IVS10-14C>G	1	0.27
165	p.Thr278Ile(;)Val399=	1	0.27
166	p.Trp187Cys(;)Cys265Tyr	1	0.27
167	p.Tyr198Ter(;)IVS10-14C>G	1	0.27
168	p.Tyr204Cys(;)Arg241Cys	1	0.27
169	p.Tyr204Cys(;)Gly247Val	1	0.27
170	p.Tyr204Cys(;)IVS12+1G>T	1	0.27
171	p.Tyr204Cys(;)Tyr356Ter	1	0.27
172	p.Tyr356Ter(;)=	1	0.27
173	p.Tyr356Ter(;)Ala403Val	1	0.27
174	p.Tyr77Ter(;)=	1	0.27
175	p.Tyr77Ter(;)Arg111Ter	1	0.27
176	p.Val106Ala(;)Thr278Ile	1	0.27
177	p.Val288Met(;)Arg413Pro	1	0.27
178	p.Val399=(;)=	1	0.27
	Total:	370

patients included from: Lee et al

	Genotype	Patients	Frequency in %
1	p.Tyr204Cys(;)=	5	6.33
2	p.Ala259Thr(;)=	3	3.80
3	p.Arg243Gln(;)=	3	3.80
4	p.Tyr204Cys(;)Tyr204Cys	3	3.80
5	p.Ala259Thr(;)Thr278Ile	2	2.53
6	p.Arg241Cys(;)Ala259Thr	2	2.53
7	p.Arg241Cys(;)Arg241Cys	2	2.53
8	p.Arg241Cys(;)Arg243Gln	2	2.53
9	p.Arg243Gln(;)Ala345Thr	2	2.53
10	p.IVS4-1G>A(;)=	2	2.53
11	p.IVS4-1G>A(;)Arg243Gln	2	2.53
12	p.IVS4-1G>A(;)Val388Met	2	2.53
13	p.Tyr204Cys(;)Arg243Gln	2	2.53
14	p.Tyr356Ter(;)=	2	2.53
15	p.=(;)=	1	1.27
16	p.Ala345Thr(;)Gly332Val	1	1.27
17	p.Ala447Pro(;)=	1	1.27
18	p.Arg111Ter(;)Arg243Gln	1	1.27
19	p.Arg158Gln(;)Arg243Gln	1	1.27
20	p.Arg176Ter(;)Ala259Thr	1	1.27
21	p.Arg176Ter(;)Ser391Ile	1	1.27
22	p.Arg241Cys(;)Thr278Ile	1	1.27
23	p.Arg243Gln(;)Arg252Gln	1	1.27
24	p.Arg243Gln(;)Pro281Ala	1	1.27
25	p.Arg243Gln(;)Tyr325Ter	1	1.27
26	p.Arg243Gln(;)Tyr356Ter	1	1.27
27	p.Arg243Gln(;)Val388Met	1	1.27
28	p.Arg413Pro(;)=	1	1.27
29	p.Arg413Pro(;)Tyr325Ter	1	1.27
30	p.Arg53His(;)Arg243Gln	1	1.27
31	p.Arg53His(;)Val388Met	1	1.27
32	p.Asn207Asp(;)=	1	1.27
33	p.Asn207Asp(;)Tyr325Ter	1	1.27
34	p.Asp84Tyr(;)Tyr356Ter	1	1.27
35	p.Gly103Ser(;)Arg413Pro	1	1.27
36	p.Gly239Ser(;)Pro281Leu	1	1.27
37	p.Gly332Glu(;)=	1	1.27
38	p.IVS10-3C>G(;)IVS10-3C>G	1	1.27
39	p.IVS2+2T>C(;)=	1	1.27
40	p.IVS4-1G>A(;)Ala259Thr	1	1.27
41	p.IVS4-1G>A(;)Arg261Ter	1	1.27
42	p.IVS4-1G>A(;)IVS4-1G>A	1	1.27
43	p.IVS4-1G>A(;)Leu293Met	1	1.27
44	p.IVS4-1G>A(;)Pro281Leu	1	1.27
45	p.IVS4-1G>A(;)Ser310Phe	1	1.27
46	p.IVS4-1G>A(;)Thr278Ser	1	1.27
47	p.IVS4-1G>A(;)Tyr356Ter	1	1.27
48	p.Pro407Ser(;)Arg413Pro	1	1.27
49	p.Pro69Ser(;)Arg261Gln	1	1.27
50	p.Ser70del(;)IVS4-1G>A	1	1.27
51	p.Ser70del(;)Leu255Ser	1	1.27
52	p.Thr278Ile(;)Arg413Pro	1	1.27
53	p.Thr278Ile(;)Tyr356Ter	1	1.27
54	p.Trp187Ter(;)Tyr356Ter	1	1.27
55	p.Tyr204Cys(;)Pro281Leu	1	1.27
56	p.Tyr204Cys(;)Tyr325Ter	1	1.27
57	p.Tyr204Cys(;)Tyr356Ter	1	1.27
58	p.Tyr325Ter(;)Val388Met	1	1.27
59	p.Tyr356Ter(;)Arg408Gln	1	1.27
	Total:	79

patients included from: Kreile et al

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	50	45.45
2	p.Glu280Lys(;)Arg408Trp	9	8.18
3	p.Arg158Gln(;)Arg408Trp	6	5.45
4	p.Arg261Gln(;)Arg408Trp	5	4.55
5	p.Ala403Val(;)Arg408Trp	4	3.64
6	p.Glu280Lys(;)Lys320Asn	3	2.73
7	p.Ala104Asp(;)Arg408Trp	2	1.82
8	p.Arg408Trp(;)=	2	1.82
9	p.Arg408Trp(;)IVS12+1G>A	2	1.82
10	p.Arg408Trp(;)Pro281Leu	2	1.82
11	p.Ala300Ser(;)Arg408Trp	1	0.91
12	p.Arg111Ter(;)Arg408Trp	1	0.91
13	p.Arg158Gln(;)=	1	0.91
14	p.Arg158Gln(;)IVS2+5G>C	1	0.91
15	p.Arg169His(;)Arg408Trp	1	0.91
16	p.Arg261Ter(;)Arg408Trp	1	0.91
17	p.Arg261Ter(;)Pro281Leu	1	0.91
18	p.Arg408Trp(;)IVS12-1G>A	1	0.91
19	p.Arg408Trp(;)Tyr414Cys	1	0.91
20	p.Asp222Ter(;)Arg408Trp	1	0.91
21	p.Asp296Asn(;)Arg408Trp	1	0.91
22	p.Glu178Gly(;)Arg408Trp	1	0.91
23	p.Glu280Lys(;)IVS12+1G>A	1	0.91
24	p.Gly272Ter(;)Arg408Trp	1	0.91
25	p.IVS10-11G>A(;)Arg408Trp	1	0.91
26	p.IVS10-11G>A(;)IVS12-1G>A	1	0.91
27	p.IVS10-3C>T(;)Arg408Trp	1	0.91
28	p.IVS4+5G>T(;)Arg408Trp	1	0.91
29	p.Ile306Val(;)Arg408Trp	1	0.91
30	p.Leu48Ser(;)Arg408Trp	1	0.91
31	p.Leu48Ser(;)Glu280Lys	1	0.91
32	p.Lys371Glu(;)Arg408Trp	1	0.91
33	p.Pro292Thr(;)Arg408Trp	1	0.91
34	p.Val230Ile(;)Arg408Trp	1	0.91
35	p.ex5del(;)Arg408Trp	1	0.91
	Total:	110

patients included from: Karam et al

	Genotype	Patients	Frequency in %
1	p.Gly352ValfsTer48(;)Gly352ValfsTer48	3	21.43
2	p.IVS10-11G>A(;)IVS10-11G>A	2	14.29	landscape
3	p.P89fs(;)Ala403Val	2	14.29
4	p.Phe55LeufsTer6(;)Phe55LeufsTer6	1	7.14
5	p.IVS10-11G>A(;)IVS2+5G>C	1	7.14
6	p.IVS7+1G>T(;)IVS7+1G>T	1	7.14
7	p.P89fs(;)IVS1+5G>T	1	7.14
8	p.Arg241Cys(;)IVS10-11G>A	1	7.14
9	p.Arg261Gln(;)IVS4+5G>T	1	7.14
10	p.Arg261Gln(;)Arg261Gln	1	7.14	landscape
	Total:	14

patients included from: Kasnauskiene et al

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	50	58.82	landscape
2	p.Arg158Gln(;)Arg408Trp	10	11.76	landscape
3	p.Arg408Trp(;)Ala403Val	4	4.71	landscape
4	p.Arg408Trp(;)Gly272Ter	3	3.53
5	p.Arg408Trp(;)Glu280Lys	2	2.35
6	p.Phe39del(;)IVS10-11G>A	1	1.18
7	p.Arg158Gln(;)IVS2-13T>G	1	1.18
8	p.Arg158Gln(;)Arg158Gln	1	1.18
9	p.Arg111Ter(;)Val245Ala	1	1.18
10	p.Arg408Trp(;)Asp222Ter	1	1.18
11	p.Arg408Trp(;)Phe55LeufsTer6	1	1.18
12	p.Arg408Trp(;)Ile306Val	1	1.18	landscape
13	p.Arg408Trp(;)IVS10-11G>A	1	1.18	landscape
14	p.Arg408Trp(;)IVS2-13T>G	1	1.18
15	p.Arg408Trp(;)L15S16fsCTdel	1	1.18
16	p.Arg408Trp(;)Leu311Pro	1	1.18
17	p.Arg408Trp(;)Pro281Leu	1	1.18	landscape
18	p.Arg408Trp(;)Arg176Ter	1	1.18
19	p.Arg408Trp(;)Arg261Gln	1	1.18	landscape
20	p.Arg408Trp(;)Arg261Ter	1	1.18
21	p.Arg408Trp(;)Tyr414Cys	1	1.18	landscape
	Total:	85

patients included from: Vela-Amieva et al

	Genotype	Patients	Frequency in %
1	p.IVS1+5G>T(;)IVS1+5G>T	4	8.33
2	p.IVS1+5G>T(;)Val388Met	4	8.33
3	p.IVS1+5G>T(;)IVS4+5G>T	2	4.17
4	p.Arg158Trp(;)Ser349Pro	1	2.08
5	p.Arg176Ter(;)IVS10-11G>A	1	2.08
6	p.Arg241His(;)Arg243Gln	1	2.08
7	p.Arg252Trp(;)Tyr386Cys	1	2.08
8	p.Arg261Ter(;)Arg261Gln	1	2.08
9	p.Arg261Ter(;)IVS10-11G>A	1	2.08
10	p.Arg270Lys(;)IVS10-11G>A	1	2.08
11	p.Arg270Lys(;)Pro314His	1	2.08
12	p.Arg68Ser(;)Arg261Gln	1	2.08
13	p.Gln304=(;)Gln304=	1	2.08
14	p.Glu280Lys(;)Glu280Lys	1	2.08
15	p.Glu390Gly(;)Glu390Gly	1	2.08
16	p.His170Asp(;)IVS12+1G>A	1	2.08
17	p.His170Asp(;)IVS7+1G>A	1	2.08
18	p.IVS1+5G>T(;)Arg243Ter	1	2.08
19	p.IVS1+5G>T(;)Arg252Trp	1	2.08
20	p.IVS1+5G>T(;)Glu280Lys	1	2.08
21	p.IVS1+5G>T(;)His170Asp	1	2.08
22	p.IVS1+5G>T(;)IVS10-11G>A	1	2.08
23	p.IVS1+5G>T(;)IVS12+1G>A	1	2.08
24	p.IVS10-11G>A(;)Asn376IlefsTer24	1	2.08
25	p.IVS10-11G>A(;)Val388Met	1	2.08
26	p.IVS4+5G>T(;)IVS4+5G>T	1	2.08
27	p.IVS4+5G>T(;)IVS7+1G>A	1	2.08
28	p.IVS4+5G>T(;)Ser349Pro	1	2.08
29	p.IVS9+6T>A(;)Val388Met	1	2.08
30	p.IVS9+6T>C(;)IVS10-11G>A	1	2.08
31	p.Ile65Thr(;)Leu348Val	1	2.08
32	p.Met1Leu(;)Arg241His	1	2.08
33	p.Met1Leu(;)Met1Leu	1	2.08
34	p.Phe55LeufsTer6(;)IVS4+5G>T	1	2.08
35	p.Pro147Ser(;)Arg261Gln	1	2.08
36	p.Pro147Ser(;)Ser349Pro	1	2.08
37	p.Pro225Thr(;)Ser303Ala	1	2.08
38	p.Ser349Pro(;)Glu390Gly	1	2.08
39	p.Ser349Pro(;)IVS10-11G>A	1	2.08
40	p.Val388Met(;)IVS12+1G>A	1	2.08
41	p.Val388Met(;)IVS12+2T>C	1	2.08
	Total:	48

patients included from: Zschocke (personal communication)

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Ile65Thr	12	10.00
2	p.Arg408Trp(;)Arg408Trp	9	7.50	landscape
3	p.Ile65Thr(;)Ile65Thr	6	5.00
4	p.Arg408Trp(;)Phe39Leu	6	5.00
5	p.Phe39Leu(;)Ile65Thr	5	4.17
6	p.Tyr414Cys(;)Ile65Thr	5	4.17
7	p.Ile65Thr(;)Leu348Val	4	3.33
8	p.Arg408Trp(;)Tyr414Cys	4	3.33	landscape
9	p.Arg408Trp(;)Leu348Val	3	2.50	landscape
10	p.Phe299Cys(;)Thr380Met	2	1.67
11	p.Phe39Leu(;)Phe299Cys	2	1.67
12	p.Ile65Thr(;)Phe299Cys	2	1.67
13	p.IVS12+1G>A(;)Ile65Thr	2	1.67	landscape
14	p.Leu348Val(;)Phe39Leu	2	1.67
15	p.Arg243Gln(;)Arg408Trp	2	1.67
16	p.Arg252Trp(;)Arg408Trp	2	1.67	landscape
17	p.Arg408Gln(;)Arg408Gln	2	1.67
18	p.Arg408Gln(;)Arg408Trp	2	1.67
19	p.Arg408Trp(;)Glu280Lys	2	1.67
20	p.Arg408Trp(;)Gly46Ser	2	1.67
21	p.Arg408Trp(;)Leu249Phe	2	1.67
22	p.Arg408Trp(;)Leu333Phe	2	1.67
23	p.Ser273Phe(;)Arg408Trp	2	1.67
24	p.Thr380Met(;)Ile65Thr	2	1.67
25	p.Ala300Val(;)Arg408Trp	1	0.83
26	p.Glu280Lys(;)Ala300Ser	1	0.83
27	p.Glu280Lys(;)Ile65Thr	1	0.83
28	p.Phe299Cys(;)Leu348Val	1	0.83
29	p.Phe39Leu(;)Ala309Val	1	0.83
30	p.Phe39Leu(;)Phe39Leu	1	0.83
31	p.Phe39Leu(;)IVS12+1G>A	1	0.83
32	p.Phe39Leu(;)Leu249Phe	1	0.83
33	p.Phe39Leu(;)Arg408Gln	1	0.83
34	p.Gly46Ser(;)Leu348Val	1	0.83
35	p.Ile65Thr(;)IVS10-3	1	0.83
36	p.Ile65Thr(;)Ser349Pro	1	0.83
37	p.IVS12+1G>A(;)IVS10-11G>A	1	0.83
38	p.IVS12+1G>A(;)Arg243Ter	1	0.83
39	p.IVS12+1G>A(;)Arg252Trp	1	0.83
40	p.Leu194Pro(;)Val245Ala	1	0.83
41	p.Leu348Val(;)Arg408Gln	1	0.83
42	p.Leu348Val(;)Tyr414Cys	1	0.83
43	p.Arg241Leu(;)Phe39Leu	1	0.83
44	p.Arg243Gln(;)Ile65Thr	1	0.83
45	p.Arg243Ter(;)Arg243Ter	1	0.83
46	p.Arg243Ter(;)Ser67Pro	1	0.83
47	p.Arg252Trp(;)Ile65Thr	1	0.83
48	p.Arg261Gln(;)Phe39Leu	1	0.83
49	p.R261Q?(;)Y386C?	1	0.83
50	p.Arg408Trp(;)Ala309Asp	1	0.83
51	p.Arg408Trp(;)Phe299Cys	1	0.83
52	p.Arg408Trp(;)IVS10-11G>A	1	0.83	landscape
53	p.Arg408Trp(;)IVS12+1G>A	1	0.83	landscape
54	p.Arg408Trp(;)IVS8	1	0.83
55	p.Arg408Trp(;)Arg158Gln	1	0.83	landscape
56	p.Thr380Met(;)Arg261Gln	1	0.83
57	p.Thr380Met(;)Arg408Trp	1	0.83
58	p.Tyr277Asp(;)Glu390Gly	1	0.83
59	p.Tyr414Cys(;)Phe299Cys	1	0.83
60	p.Tyr414Cys(;)IVS12+1G>A	1	0.83	landscape
	Total:	120

patients included from: Bik-Multanowski et al

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	475	39.42	landscape
2	p.Arg408Trp(;)IVS10-11G>A	62	5.15	landscape
3	p.Arg408Trp(;)Arg158Gln	56	4.65	landscape
4	p.Ala403Val(;)Arg408Trp	38	3.15	landscape
5	p.Ala300Ser(;)Arg408Trp	34	2.82	landscape
6	p.Arg408Trp(;)Pro281Leu	34	2.82	landscape
7	p.Arg408Trp(;)IVS12+1G>A	27	2.24	landscape
8	p.Arg261Gln(;)Arg408Trp	26	2.16	landscape
9	p.Tyr414Cys(;)Arg408Trp	26	2.16	landscape
10	p.Ile306Val(;)Arg408Trp	23	1.91	landscape
11	p.Arg297His(;)Arg408Trp	19	1.58	landscape
12	p.Arg408Trp(;)Arg252Trp	18	1.49	landscape
13	p.Arg408Trp(;)g.47563_51794del4232g.56161_56430ins268	13	1.08
14	p.Arg408Trp(;)Ile283Phe	12	1.00	landscape
15	p.Val388Met(;)Arg408Trp	12	1.00	landscape
16	p.Leu348Val(;)Arg408Trp	11	0.91	landscape
17	p.Arg241His(;)Arg408Trp	11	0.91	landscape
18	p.Arg408Trp(;)Phe55LeufsTer6	11	0.91
19	p.Val245Ala(;)Arg408Trp	10	0.83	landscape
20	p.Glu390Gly(;)Arg408Trp	9	0.75	landscape
21	p.Asp415Asn(;)Arg408Trp	8	0.66
22	p.Arg408Trp(;)Lys274AsnfsTer5	7	0.58
23	p.Arg243Gln(;)Arg408Trp	6	0.50
24	p.Arg408Trp(;)Ser349Pro	6	0.50
25	p.IVS10-11G>A(;)IVS10-11G>A	5	0.41	landscape
26	p.Arg408Trp(;)Gly272Ter	5	0.41
27	p.Arg408Trp(;)Arg243Ter	5	0.41
28	p.Ala104Asp(;)Arg408Trp	4	0.33
29	p.Ala395Pro(;)Arg408Trp	4	0.33
30	p.Phe39del(;)Arg408Trp	4	0.33
31	p.IVS10-3C>T(;)Arg408Trp	4	0.33
32	p.Lys320Asn(;)Arg408Trp	4	0.33
33	p.Arg408Trp(;)IVS7+1G>A	4	0.33
34	p.Ala300Ser(;)Arg158Gln	3	0.25
35	p.Ala403Val(;)IVS10-11G>A	3	0.25
36	p.Ile306Val(;)Arg158Gln	3	0.25
37	p.Pro211Thr(;)Arg408Trp	3	0.25
38	p.Arg408Trp(;)Glu280Lys	3	0.25
39	p.Arg408Trp(;)Phe55Leu	3	0.25
40	p.Arg408Trp(;)IVS4-1G>A	3	0.25
41	p.Arg408Trp(;)Arg261Ter	3	0.25
42	p.Arg408Trp(;)Arg68Gly	3	0.25
43	p.Arg408Trp(;)Ser67Pro	3	0.25
44	p.Ala300Ser(;)Ala395Pro	2	0.17
45	p.Ala309Val(;)Arg408Trp	2	0.17
46	p.Ala395Pro(;)Ala395Pro	2	0.17
47	p.Ala403Val(;)Pro281Leu	2	0.17
48	p.Ala403Val(;)Arg158Gln	2	0.17
49	p.Ile306Val(;)IVS10-11G>A	2	0.17
50	p.Ile306Val(;)IVS12+1G>A	2	0.17
51	p.IVS10-11G>A(;)Phe55Leu	2	0.17
52	p.IVS10-11G>A(;)Pro281Leu	2	0.17	landscape
53	p.IVS10-11G>A(;)Arg252Trp	2	0.17
54	p.IVS10-11G>A(;)Arg261Ter	2	0.17
55	p.IVS10-11G>A(;)S436Pfs	2	0.17
56	p.IVS12+1G>A(;)A246Vfs	2	0.17
57	p.IVS12+1G>A(;)IVS12+1G>A	2	0.17
58	p.IVS12+1G>A(;)Pro281Leu	2	0.17
59	p.IVS7+1G>A(;)Arg68Gly	2	0.17
60	p.Leu348Val(;)Arg158Gln	2	0.17
61	p.Leu48Ser(;)Arg408Trp	2	0.17	landscape
62	p.Pro281Leu(;)Pro281Leu	2	0.17	landscape
63	p.Arg158Gln(;)IVS12+1G>A	2	0.17
64	p.Arg158Gln(;)Arg158Gln	2	0.17
65	p.Arg243Ter(;)g.47563_51794del4232g.56161_56430ins268	2	0.17
66	p.Arg252Trp(;)Ser349Pro	2	0.17
67	p.Arg252Trp(;)Ser67Pro	2	0.17
68	p.Arg261Gln(;)IVS12+1G>A	2	0.17
69	p.Arg261Gln(;)Arg261Gln	2	0.17	landscape
70	p.Arg408Trp(;)Ala342Pro	2	0.17
71	p.Arg408Trp(;)Asp222Ter	2	0.17
72	p.Arg408Trp(;)Gly312Asp	2	0.17
73	p.Arg408Trp(;)IVS4+1G>A	2	0.17
74	p.Arg408Trp(;)IVS4+5G>T	2	0.17
75	p.Arg408Trp(;)IVS9-2A>C	2	0.17
76	p.Arg408Trp(;)N133_Q134Rfs	2	0.17
77	p.Arg408Trp(;)Tyr277Cys	2	0.17
78	p.Arg408Trp(;)Tyr386Cys	2	0.17
79	p.Arg68Ser(;)Arg408Trp	2	0.17
80	p.Tyr414Cys(;)IVS10-11G>A	2	0.17
81	p.21560_26324del4765(;)50448_51402del955	1	0.08
82	p.47563_51794del4232(;)IVS2+5G>C	1	0.08
83	p.47563_51794del4232(;)L424X	1	0.08
84	p.Ala104Asp(;)IVS4-1G>A	1	0.08
85	p.Ala300Ser(;)Glu280Lys	1	0.08
86	p.Ala300Ser(;)Phe55LeufsTer6	1	0.08
87	p.Ala300Ser(;)Ile306Val	1	0.08
88	p.Ala300Ser(;)IVS10-11G>A	1	0.08	landscape
89	p.Ala300Ser(;)IVS12+1G>A	1	0.08
90	p.Ala300Ser(;)Leu48Ser	1	0.08
91	p.Ala300Ser(;)Pro281Leu	1	0.08	landscape
92	p.Ala300Ser(;)Arg261Gln	1	0.08
93	p.Ala395Pro(;)Thr380Met	1	0.08
94	p.Ala403Val(;)47563_51794del4232	1	0.08
95	p.Ala403Val(;)Phe39Leu	1	0.08
96	p.Ala403Val(;)Phe55LeufsTer6	1	0.08
97	p.Ala403Val(;)Ile306Val	1	0.08
98	p.Asp415Asn(;)IVS10-11G>A	1	0.08
99	p.Glu178Gly(;)Arg408Trp	1	0.08
100	p.Glu390Gly(;)Ile283Phe	1	0.08
101	p.Phe39Leu(;)Ile283Phe	1	0.08
102	p.Phe39Leu(;)Pro281Leu	1	0.08
103	p.Phe55LeufsTer6(;)Gly307Asp	1	0.08
104	p.Ile269Leu(;)Arg408Trp	1	0.08
105	p.Ile283Phe(;)Arg261Ter	1	0.08
106	p.Ile306Val(;)Asp415Asn	1	0.08
107	p.Ile306Val(;)Ile306Val	1	0.08
108	p.Ile306Val(;)K274Nfs	1	0.08
109	p.Ile306Val(;)Leu348Val	1	0.08
110	p.Ile306Val(;)Pro281Leu	1	0.08
111	p.Ile306Val(;)Arg261Gln	1	0.08
112	p.Ile306Val(;)Arg261Ter	1	0.08
113	p.Ile65Thr(;)Pro225Thr	1	0.08
114	p.Ile65Thr(;)Arg408Trp	1	0.08
115	p.IVS10-11G>A(;)Glu280Lys	1	0.08
116	p.IVS10-11G>A(;)Phe55LeufsTer6	1	0.08
117	p.IVS10-11G>A(;)Gly272Ter	1	0.08
118	p.IVS10-11G>A(;)Arg243Ter	1	0.08
119	p.IVS10-11G>A(;)Thr323del	1	0.08
120	p.IVS12+1G>A(;)47563_51794del4232	1	0.08
121	p.IVS12+1G>A(;)IVS4-1G>A	1	0.08
122	p.IVS12+1G>A(;)Arg243Ter	1	0.08
123	p.Leu348Val(;)47563_51794del4232	1	0.08
124	p.Leu348Val(;)Phe55Leu	1	0.08
125	p.Leu348Val(;)Leu358Phe	1	0.08
126	p.Leu348Val(;)Pro281Leu	1	0.08
127	p.Leu348Val(;)Arg261Ter	1	0.08
128	p.Leu48Ser(;)Phe55LeufsTer6	1	0.08
129	p.Pro281Leu(;)Ala342Thr	1	0.08
130	p.Arg158Gln(;)Glu280Lys	1	0.08
131	p.Arg158Gln(;)Ile283Phe	1	0.08
132	p.Arg158Gln(;)IVS10-11G>A	1	0.08
133	p.Arg158Gln(;)N133_Q134Rfs	1	0.08
134	p.Arg158Gln(;)Pro281Leu	1	0.08
135	p.Arg158Gln(;)Arg261Ter	1	0.08
136	p.Arg241Cys(;)Arg408Trp	1	0.08
137	p.Arg241His(;)IVS10-11G>A	1	0.08
138	p.Arg243Gln(;)IVS10-11G>A	1	0.08
139	p.Arg243Gln(;)IVS2+5G>C	1	0.08
140	p.Arg243Ter(;)A434V	1	0.08
141	p.Arg243Ter(;)Asp315Tyr	1	0.08
142	p.Arg252Trp(;)21560_26324del4765	1	0.08
143	p.Arg252Trp(;)Arg252Trp	1	0.08	landscape
144	p.Arg261Gln(;)Ala395Pro	1	0.08
145	p.Arg261Gln(;)Phe55Leu	1	0.08
146	p.Arg261Gln(;)IVS10-11G>A	1	0.08	landscape
147	p.Arg261Gln(;)Pro281Leu	1	0.08
148	p.Arg261Gln(;)Arg252Trp	1	0.08
149	p.Arg261Gln(;)Ser349Pro	1	0.08
150	p.Arg297His(;)Arg297His	1	0.08
151	p.Arg297His(;)Tyr414Cys	1	0.08
152	p.Arg408Gln(;)Arg408Trp	1	0.08
153	p.Arg408Trp(;)21560_26324del4765	1	0.08
154	p.Arg408Trp(;)61933_62732del800insTACTTACCTAT	1	0.08
155	p.Arg408Trp(;)64833_71300del6468insTTC	1	0.08
156	p.Arg408Trp(;)A246Vfs	1	0.08
157	p.Arg408Trp(;)Asp315Tyr	1	0.08
158	p.Arg408Trp(;)Glu183Gln	1	0.08
159	p.Arg408Trp(;)Gly307Asp	1	0.08
160	p.Arg408Trp(;)IVS2+5G>C	1	0.08
161	p.Arg408Trp(;)IVS3-1G>A	1	0.08
162	p.Arg408Trp(;)IVS3-1G>C	1	0.08
163	p.Arg408Trp(;)IVS8-7A>G	1	0.08
164	p.Arg408Trp(;)Leu358Phe	1	0.08
165	p.Arg408Trp(;)Leu37Pro	1	0.08
166	p.Arg408Trp(;)Pro407Leu	1	0.08
167	p.Arg408Trp(;)Gln383Ter	1	0.08
168	p.Arg408Trp(;)Arg111Ter	1	0.08
169	p.Arg408Trp(;)Arg270Lys	1	0.08
170	p.Arg408Trp(;)Arg53His	1	0.08
171	p.Arg408Trp(;)Thr278Ile	1	0.08
172	p.Arg408Trp(;)Thr323Ile	1	0.08
173	p.Arg408Trp(;)T92Sfs	1	0.08
174	p.Arg408Trp(;)Val412Gly	1	0.08
175	p.Arg408Trp(;)V423Vfs	1	0.08
176	p.Arg408Trp(;)Tyr325Cys	1	0.08
177	p.Arg408Trp(;)Tyr356Ter	1	0.08
178	p.Arg413Pro(;)Arg413Pro	1	0.08
179	p.Ser87Arg(;)Arg408Trp	1	0.08
180	p.Thr380Met(;)Arg408Trp	1	0.08
181	p.Val245Ala(;)Arg158Gln	1	0.08
182	p.Tyr277Cys(;)Leu194Pro	1	0.08
183	p.Tyr414Cys(;)Phe55LeufsTer6	1	0.08
184	p.Tyr414Cys(;)Gly272Ter	1	0.08
185	p.Tyr414Cys(;)Ile283Phe	1	0.08
186	p.Tyr414Cys(;)IVS7+1G>A	1	0.08
187	p.Tyr414Cys(;)Arg158Gln	1	0.08	landscape
188	p.Tyr414Cys(;)Tyr414Cys	1	0.08
	Total:	1205

patients included from: Rivera et alFerreira et al

	Genotype	Patients	Frequency in %
1	p.Arg261Gln(;)Arg261Gln	19	6.62	landscape
2	p.IVS10-11G>A(;)IVS10-11G>A	13	4.53	landscape
3	p.Ile65Thr(;)Arg261Gln	7	2.44
4	p.IVS10-11G>A(;)Val388Met	7	2.44
5	p.Arg158Gln(;)Arg158Gln	6	2.09
6	p.Val388Met(;)Val388Met	6	2.09
7	p.Arg176Leu(;)IVS10-11G>A	5	1.74
8	p.Ile65Thr(;)Pro281Leu	5	1.74
9	p.Val388Met(;)Tyr414Cys	5	1.74
10	p.Ile65Thr(;)Ile65Thr	4	1.39
11	p.IVS10-11G>A(;)Ala403Val	4	1.39
12	p.IVS10-11G>A(;)Leu348Val	4	1.39
13	p.IVS10-11G>A(;)Pro281Leu	4	1.39	landscape
14	p.Leu249Phe(;)Leu249Phe	4	1.39
15	p.Arg158Gln(;)Pro281Leu	4	1.39
16	p.Arg176Ter(;)Val388Met	4	1.39
17	p.Arg261Gln(;)Val388Met	4	1.39
18	p.Arg176Leu(;)Arg252Trp	3	1.05
19	p.Arg252Trp(;)Arg252Trp	3	1.05
20	p.Ile65Thr(;)IVS10-11G>A	3	1.05
21	p.Leu249Phe(;)Ala300Ser	3	1.05
22	p.Arg176Ter(;)IVS10-11G>A	3	1.05
23	p.Arg176Ter(;)Arg176Ter	3	1.05
24	p.Arg252Trp(;)IVS10-11G>A	3	1.05
25	p.Arg252Trp(;)Val388Met	3	1.05
26	p.Arg261Gln(;)IVS10-11G>A	3	1.05	landscape
27	p.Arg270Lys(;)IVS10-11G>A	3	1.05
28	p.Arg270Lys(;)Arg270Lys	3	1.05
29	p.Val388Met(;)Glu390Gly	3	1.05
30	p.Ala300Ser(;)IVS10-11G>A	2	0.70	landscape
31	p.Ala322Gly(;)Ser349Pro	2	0.70
32	p.Arg158Gln(;)IVS12+1G>A	2	0.70
33	p.Arg176Leu(;)Arg261Gln	2	0.70
34	p.Arg176Leu(;)IVS2+5G>A	2	0.70
35	p.Arg261Gln(;)Asp145Asn	2	0.70
36	p.Arg261Gln(;)Ser87Arg	2	0.70
37	p.Asp129Tyr(;)Asp129Tyr	2	0.70
38	p.Ile65Thr(;)Arg243Gln	2	0.70
39	p.IVS10-11G>A(;)Arg297Cys	2	0.70
40	p.Ile65Thr(;)Arg176Leu	2	0.70
41	p.Ile65Thr(;)Arg252Trp	2	0.70
42	p.Ile65Thr(;)Arg270Lys	2	0.70
43	p.Ile65Thr(;)Asp145Val	2	0.70
44	p.Leu249Phe(;)Ala309Val	2	0.70
45	p.Leu249Phe(;)Arg261Ter	2	0.70
46	p.Leu249Phe(;)Leu348Val	2	0.70
47	p.Leu249Phe(;)Pro281Leu	2	0.70
48	p.Pro281Leu(;)Pro281Leu	2	0.70	landscape
49	p.Phe55LeufsTer6(;)IVS10-11G>A	2	0.70
50	p.Arg158Gln(;)Arg261Gln	2	0.70
51	p.Arg243Ter(;)IVS10-11G>A	2	0.70
52	p.Arg261Gln(;)Arg408Trp	2	0.70	landscape
53	p.Arg261Ter(;)Ile269Leu	2	0.70
54	p.Arg270Lys(;)Glu390Gly	2	0.70
55	p.Val388Met(;)Ala403Val	2	0.70
56	p.Val388Met(;)Arg297Cys	2	0.70
57	p.Val388Met(;)IVS2+5G>A	2	0.70
58	p.Ala322Gly(;)Val388Met	1	0.35
59	p.Arg158Gln(;)Ala403Val	1	0.35
60	p.Arg158Gln(;)Arg252Trp	1	0.35
61	p.Arg158Gln(;)Arg297Cys	1	0.35
62	p.Arg158Gln(;)IVS2+5G>C	1	0.35
63	p.Arg158Gln(;)Leu249Phe	1	0.35
64	p.Arg176Leu(;)Arg243Gln	1	0.35
65	p.Arg176Leu(;)Arg270Lys	1	0.35
66	p.Arg176Leu(;)Leu249Phe	1	0.35
67	p.Arg176Leu(;)Pro281Leu	1	0.35
68	p.Arg176Ter(;)Ala309Val	1	0.35
69	p.Arg176Ter(;)Ala403Val	1	0.35
70	p.Arg176Ter(;)Arg261Gln	1	0.35
71	p.Arg243Gln(;)Asp145Asn	1	0.35
72	p.Arg243Gln(;)Pro281Leu	1	0.35
73	p.Arg243Ter(;)Arg243Ter	1	0.35
74	p.Arg252Trp(;)Ala300Ser	1	0.35
75	p.Arg252Trp(;)Arg270Lys	1	0.35
76	p.Arg261Gln(;)Ala403Val	1	0.35
77	p.Arg261Gln(;)Arg243Gln	1	0.35
78	p.Arg261Gln(;)Asp129Gly	1	0.35
79	p.Arg261Gln(;)Asp145Val	1	0.35
80	p.Arg261Gln(;)Glu390Gly	1	0.35
81	p.Arg261Gln(;)IVS2+5G>A	1	0.35
82	p.Arg261Gln(;)Leu308Phe	1	0.35
83	p.Arg261Gln(;)Leu348Val	1	0.35
84	p.Arg261Gln(;)Leu48Ser	1	0.35
85	p.Arg261Gln(;)Pro281Leu	1	0.35
86	p.Arg270Lys(;)Ala403Val	1	0.35
87	p.Arg53His(;)Leu348Val	1	0.35
88	p.Arg68Ser(;)Arg158Gln	1	0.35
89	p.Arg68Ser(;)Arg241His	1	0.35
90	p.Arg68Ser(;)Arg270Lys	1	0.35
91	p.Arg68Ser(;)Arg68Ser	1	0.35
92	p.Arg68Ser(;)IVS10-11G>A	1	0.35
93	p.Arg68Ser(;)IVS12+1G>A	1	0.35
94	p.Asp129Tyr(;)Leu348Val	1	0.35
95	p.Glu280Lys(;)Glu280Lys	1	0.35
96	p.Glu178Gly(;)Ala309Asp	1	0.35
97	p.Glu182Lys(;)Leu348Val	1	0.35
98	p.Gly352ValfsTer48(;)Ile421Thr	1	0.35
99	p.Gly46Ser(;)Arg261Gln	1	0.35
100	p.Gly46Ser(;)Ile164Val	1	0.35
101	p.Ile269Leu(;)IVS10-11G>A	1	0.35
102	p.IVS10-11G>A(;)Ala313Val	1	0.35
103	p.IVS10-11G>A(;)Arg243Gln	1	0.35
104	p.IVS10-11G>A(;)Arg297His	1	0.35
105	p.IVS10-11G>A(;)Asp129Tyr	1	0.35
106	p.IVS10-11G>A(;)IVS12+1G>A	1	0.35
107	p.IVS10-11G>A(;)Tyr414Cys	1	0.35
108	p.IVS2+5G>A(;)IVS2+5G>A	1	0.35
109	p.IVS2+5G>C(;)Ala300Ser	1	0.35
110	p.IVS4+5G>T(;)IVS4+5G>T	1	0.35
111	p.Ile65Thr(;)Ala300Ser	1	0.35
112	p.Ile65Thr(;)Asp129Gly	1	0.35
113	p.Ile65Thr(;)IVS11+5G>A	1	0.35
114	p.Ile65Thr(;)IVS2+5G>A	1	0.35
115	p.Ile65Thr(;)Ile164Val	1	0.35
116	p.Ile65Thr(;)Leu249Phe	1	0.35
117	p.Ile65Thr(;)Leu367Gln	1	0.35
118	p.Leu249Phe(;)Val388Met	1	0.35
119	p.Leu311Pro(;)Leu311Pro	1	0.35
120	p.Leu348Val(;)Arg270Lys	1	0.35
121	p.Leu249Phe(;)IVS10-11G>A	1	0.35
122	p.Leu249Phe(;)Phe410Cys	1	0.35
123	p.Phe39Leu(;)IVS7+1G>A	1	0.35
124	p.Phe410Cys(;)Phe410Cys	1	0.35
125	p.Phe55Leu(;)Arg270Lys	1	0.35
126	p.Phe55LeufsTer6(;)Ala300Ser	1	0.35
127	p.Phe55LeufsTer6(;)Ala403Val	1	0.35
128	p.Arg158Gln(;)Arg176Leu	1	0.35
129	p.Arg158Gln(;)Arg270Lys	1	0.35
130	p.Arg158Gln(;)Tyr198Cysfs*136	1	0.35
131	p.Arg176Leu(;)Glu390Gly	1	0.35
132	p.Arg241His(;)Arg261Gln	1	0.35
133	p.Arg243Gln(;)Val388Met	1	0.35
134	p.Arg243Ter(;)Tyr198Cysfs*136	1	0.35
135	p.Arg252Trp(;)Thr323del	1	0.35
136	p.Arg261Gln(;)Leu311Pro	1	0.35
137	p.Arg270Lys(;)Asp415Asn	1	0.35
138	p.Arg270Lys(;)Ser349Pro	1	0.35
139	p.Arg68Ser(;)Glu178Gly	1	0.35
140	p.Ser359Leu(;)Val388Met	1	0.35
141	p.Thr323del(;)Thr323del	1	0.35
142	p.Thr323del(;)Val388Met	1	0.35
143	p.Tyr414Cys(;)Arg408Trp	1	0.35
144	p.Val230Ile(;)Pro281Leu	1	0.35
145	p.Val230Ile(;)Leu348Val	1	0.35
146	p.Val388Met(;)Arg408Trp	1	0.35
147	p.Val388Met(;)Pro281Leu	1	0.35
	Total:	287

patients included from: Gemperle-Britschgi et al

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	16	20.51
2	p.Arg408Trp(;)ex6del	7	8.97
3	p.Leu48Ser(;)Arg408Trp	6	7.69
4	p.Arg261Gln(;)Arg408Trp	3	3.85
5	p.Arg261Gln(;)Pro281Leu	2	2.56
6	p.Arg408Trp(;)Glu390Gly	2	2.56
7	p.IVS10-11G>A(;)IVS10-11G>A	2	2.56	landscape
8	p.Leu48Ser(;)Ile306Val	2	2.56
9	p.Pro281Leu(;)Glu178Gly	2	2.56
10	p.Ala403Val(;)Ala300Ser	1	1.28
11	p.Arg158Trp(;)Ala403Val	1	1.28
12	p.Arg252Trp(;)Pro281Leu	1	1.28
13	p.Arg261Gln(;)Glu390Gly	1	1.28
14	p.Arg261Gln(;)IVS10-11G>A	1	1.28
15	p.Arg261Gln(;)IVS12+1G>T	1	1.28
16	p.Arg408Trp(;)Arg252Trp	1	1.28
17	p.Arg408Trp(;)Arg413Pro	1	1.28
18	p.Arg408Trp(;)IVS12+1G>T	1	1.28
19	p.Arg408Trp(;)IVS7+4A>G	1	1.28
20	p.Arg408Trp(;)Lys363AsnfsTer37	1	1.28
21	p.Arg408Trp(;)Pro225Thr	1	1.28
22	p.Arg408Trp(;)Tyr198SerfsTer136	1	1.28
23	p.Glu178Gly(;)Thr323del	1	1.28
24	p.IVS10-11G>A(;)IVS12+1G>T	1	1.28
25	p.IVS10-3C>T(;)IVS10-11G>A	1	1.28
26	p.IVS2+5G>C(;)Arg408Trp	1	1.28
27	p.IVS2+5G>C(;)Gln226Lys	1	1.28
28	p.IVS2+5G>C(;)IVS10-11G>A	1	1.28
29	p.IVS4+5G>T(;)IVS4+5G>T	1	1.28
30	p.IVS7+4A>G(;)IVS7+4A>G	1	1.28
31	p.IVS7+5G>A(;)IVS12+1G>T	1	1.28
32	p.Leu48Ser(;)Arg158Trp	1	1.28
33	p.Leu48Ser(;)Arg261Gln	1	1.28
34	p.Leu48Ser(;)IVS10-11G>A	1	1.28
35	p.Leu48Ser(;)Leu48Ser	1	1.28
36	p.Leu48Ser(;)Pro281Leu	1	1.28
37	p.Leu48Ser(;)Tyr414Cys	1	1.28
38	p.Lys363AsnfsTer37(;)IVS12+1G>T	1	1.28
39	p.Lys363AsnfsTer37(;)Lys363AsnfsTer37	1	1.28
40	p.Phe55LeufsTer6(;)IVS10-11G>A	1	1.28
41	p.Pro281Leu(;)Ala300Ser	1	1.28
42	p.Pro281Leu(;)Pro225Thr	1	1.28
43	p.Pro281Leu(;)ex6del	1	1.28
44	p.Tyr268Cys(;)Glu178Gly	1	1.28
45	p.Val245Ala(;)Arg158Trp	1	1.28
	Total:	78

patients included from: Gundorova et al (only frequent genotypes)

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	847	36.06	landscape
2	p.Arg261Gln(;)Arg408Trp	141	6.00	landscape
3	p.Pro281Leu(;)Arg408Trp	100	4.26	landscape
4	p.Arg408Trp(;)IVS12+1G>A	96	4.09	landscape
5	p.Arg158Gln(;)Arg408Trp	89	3.79	landscape
6	p.IVS10-11G>A(;)Arg408Trp	68	2.89	landscape
7	p.Ala403Val(;)Arg408Trp	48	2.04	landscape
8	p.Asp222Ter(;)Arg408Trp	47	2.00
9	p.Arg252Trp(;)Arg408Trp	47	2.00	landscape
10	p.Arg408Trp(;)Tyr414Cys	47	2.00	landscape
11	p.Arg261Ter(;)Arg261Ter	41	1.75
12	p.IVS4+5G>T(;)Arg408Trp	37	1.58
13	p.Glu280Lys(;)Arg408Trp	35	1.49
14	p.Leu48Ser(;)Arg408Trp	34	1.45	landscape
15	p.ex5del(;)Arg408Trp	34	1.45
16	p.Ala300Ser(;)Arg408Trp	30	1.28	landscape
17	p.Glu390Gly(;)Arg408Trp	29	1.23	landscape
18	p.Ile306Val(;)Arg408Trp	28	1.19	landscape
19	p.Arg261Gln(;)Arg261Gln	28	1.19	landscape
20	p.Arg243Ter(;)Arg408Trp	24	1.02
21	p.Arg261Ter(;)Arg408Trp	24	1.02
22	p.IVS10-11G>A(;)IVS10-11G>A	15	0.64	landscape
23	p.Arg111Ter(;)Arg408Trp	14	0.60
24	p.Arg261Gln(;)IVS12+1G>A	14	0.60
25	p.IVS2+5G>A(;)Arg408Trp	12	0.51
26	p.Pro281Leu(;)Pro281Leu	12	0.51	landscape
27	p.Ser349Pro(;)Arg408Trp	12	0.51
28	p.Asp222Ter(;)Arg261Gln	10	0.43
29	p.IVS2+5G>C(;)Arg408Trp	10	0.43
30	p.Pro281Leu(;)IVS10-11G>A	9	0.38	landscape
31	p.Arg252Trp(;)Pro281Leu	9	0.38
32	p.Arg261Gln(;)IVS10-11G>A	8	0.34	landscape
33	p.Ser16Ter(;)Arg408Trp	8	0.34
34	p.Pro281Leu(;)Glu390Gly	7	0.30
35	p.Pro281Leu(;)IVS12+1G>A	7	0.30
36	p.Arg158Gln(;)IVS12+1G>A	7	0.30
37	p.Arg158Gln(;)Arg261Gln	7	0.30
38	p.Arg252Trp(;)Arg261Ter	7	0.30
39	p.Arg261Ter(;)Pro281Leu	7	0.30
40	p.Leu48Ser(;)Pro281Leu	6	0.26
41	p.Arg158Gln(;)Pro281Leu	6	0.26
42	p.Arg261Gln(;)Pro281Leu	6	0.26
43	p.Asp222Ter(;)IVS12+1G>A	5	0.21
44	p.IVS4+5G>T(;)IVS4+5G>T	5	0.21
45	p.Pro281Leu(;)Ala300Ser	5	0.21	landscape
46	p.Arg158Gln(;)Ala403Val	5	0.21
47	p.Arg243Ter(;)Arg243Ter	5	0.21
48	p.Arg243Ter(;)Arg261Gln	5	0.21
49	p.Arg261Gln(;)Glu280Lys	5	0.21
50	p.Ala300Ser(;)IVS10-11G>A	4	0.17	landscape
51	p.Asp222Ter(;)Pro281Leu	4	0.17
52	p.Glu280Lys(;)IVS12+1G>A	4	0.17
53	p.IVS10-11G>A(;)Ala403Val	4	0.17
54	p.IVS12+1G>A(;)IVS12+1G>A	4	0.17
55	p.Pro281Leu(;)Ala403Val	4	0.17
56	p.Arg111Ter(;)Arg158Gln	4	0.17
57	p.Arg243Gln(;)Arg243Gln	4	0.17
58	p.Arg243Gln(;)Arg408Trp	4	0.17
59	p.Arg261Gln(;)Ile306Val	4	0.17
60	p.Arg261Gln(;)Arg261Ter	4	0.17
61	p.Asp222Ter(;)Glu280Lys	3	0.13
62	p.Glu280Lys(;)IVS10-11G>A	3	0.13
63	p.Glu280Lys(;)Pro281Leu	3	0.13
64	p.IVS10-11G>A(;)Glu390Gly	3	0.13
65	p.IVS10-11G>A(;)IVS12+1G>A	3	0.13
66	p.IVS2+5G>C(;)IVS10-11G>A	3	0.13
67	p.IVS4+5G>T(;)IVS12+1G>A	3	0.13
68	p.IVS4+5G>T(;)Arg261Gln	3	0.13
69	p.Leu48Ser(;)IVS12+1G>A	3	0.13
70	p.Arg158Gln(;)Arg158Gln	3	0.13
71	p.Arg243Ter(;)IVS12+1G>A	3	0.13
72	p.Arg252Trp(;)Glu390Gly	3	0.13
73	p.Arg252Trp(;)Arg252Trp	3	0.13	landscape
74	p.Arg252Trp(;)Tyr414Cys	3	0.13
75	p.Arg261Ter(;)Ala403Val	3	0.13
76	p.Arg261Ter(;)IVS10-11G>A	3	0.13
77	p.Arg408Trp(;)Ex5del	3	0.13
78	p.Ser16Ter(;)Pro281Leu	3	0.13
79	p.Ser349Pro(;)IVS10-11G>A	3	0.13
80	p.Tyr414Cys(;)IVS12+1G>A	3	0.13	landscape
81	p.ex5del(;)Arg261Gln	3	0.13
82	p.Ala300Ser(;)Ala403Val	2	0.09
83	p.Ala403Val(;)Ala403Val	2	0.09
84	p.Ala403Val(;)IVS12+1G>A	2	0.09
85	p.Asp222Ter(;)IVS10-11G>A	2	0.09
86	p.Asp222Ter(;)Arg252Trp	2	0.09
87	p.Asp222Ter(;)Tyr414Cys	2	0.09
88	p.Glu280Lys(;)Ile306Val	2	0.09
89	p.Glu390Gly(;)Glu390Gly	2	0.09
90	p.Glu390Gly(;)IVS12+1G>A	2	0.09
91	p.IVS10-11G>A(;)Arg243Ter	2	0.09
92	p.IVS10-11G>A(;)Arg252Trp	2	0.09
93	p.IVS10-11G>A(;)Tyr414Cys	2	0.09
94	p.IVS12+1G>A(;)EX5del	2	0.09
95	p.IVS2+5G>A(;)Pro281Leu	2	0.09
96	p.IVS2+5G>C(;)Arg158Gln	2	0.09
97	p.IVS2+5G>C(;)Arg261Gln	2	0.09
98	p.IVS4+5G>T(;)Glu280Lys	2	0.09
99	p.IVS4+5G>T(;)Glu390Gly	2	0.09
100	p.Leu48Ser(;)Ala403Val	2	0.09
101	p.Leu48Ser(;)IVS10-11G>A	2	0.09	landscape
102	p.Leu48Ser(;)Leu48Ser	2	0.09	landscape
103	p.Leu48Ser(;)Arg252Trp	2	0.09
104	p.Pro281Leu(;)Ile306Val	2	0.09
105	p.Pro281Leu(;)Tyr414Cys	2	0.09
106	p.Pro281Leu(;)ex5del	2	0.09
107	p.Arg111Ter(;)Asp222Ter	2	0.09
108	p.Arg111Ter(;)Arg111Ter	2	0.09
109	p.Arg111Ter(;)Arg252Trp	2	0.09
110	p.Arg111Ter(;)Arg261Gln	2	0.09
111	p.Arg158Gln(;)Ala300Ser	2	0.09
112	p.Arg158Gln(;)Glu390Gly	2	0.09
113	p.Arg158Gln(;)IVS4+5G>T	2	0.09
114	p.Arg243Gln(;)Pro281Leu	2	0.09
115	p.Arg243Ter(;)Glu390Gly	2	0.09
116	p.Arg252Trp(;)IVS12+1G>A	2	0.09
117	p.Arg252Trp(;)Arg261Gln	2	0.09
118	p.Arg261Gln(;)Ala403Val	2	0.09
119	p.Arg261Gln(;)Glu390Gly	2	0.09
120	p.Arg261Gln(;)Tyr414Cys	2	0.09
121	p.Arg261Ter(;)IVS12+1G>A	2	0.09
122	p.Ser349Pro(;)Ala403Val	2	0.09
123	p.ex5del(;)IVS10-11G>A	2	0.09
124	p.ex5del(;)Arg252Trp	2	0.09
125	p.ex5del(;)ex5del	2	0.09
126	p.Ala300Ser(;)Ile306Val	1	0.04
127	p.Ala300Ser(;)IVS12+1G>A	1	0.04
128	p.Asp222Ter(;)Ile306Val	1	0.04
129	p.Asp222Ter(;)Ser349Pro	1	0.04
130	p.Glu280Lys(;)Glu280Lys	1	0.04
131	p.EX5del(;)Glu280Lys	1	0.04
132	p.Ile306Val(;)IVS10-11G>A	1	0.04
133	p.IVS12+5G>T(;)Glu280Lys	1	0.04
134	p.IVS2+5G>A(;)IVS10-11G>A	1	0.04
135	p.IVS2+5G>A(;)IVS12+1G>A	1	0.04
136	p.IVS2+5G>A(;)Arg261Gln	1	0.04
137	p.IVS2+5G>C(;)Pro211Thr	1	0.04
138	p.IVS2+5G>C(;)Pro281Leu	1	0.04
139	p.IVS4+5G>T(;)Ala403Val	1	0.04
140	p.IVS4+5G>T(;)Tyr414Cys	1	0.04
141	p.Leu48Ser(;)Glu280Lys	1	0.04
142	p.Leu48Ser(;)Arg158Gln	1	0.04	landscape
143	p.Leu48Ser(;)Arg243Gln	1	0.04
144	p.Leu48Ser(;)Arg243Ter	1	0.04
145	p.Leu48Ser(;)Arg261Gln	1	0.04	landscape
146	p.Arg111Ter(;)Ala403Val	1	0.04
147	p.Arg111Ter(;)Glu280Lys	1	0.04
148	p.Arg111Ter(;)Glu390Gly	1	0.04
149	p.Arg111Ter(;)Arg243Gln	1	0.04
150	p.Arg158Gln(;)Asp222Ter	1	0.04
151	p.Arg158Gln(;)Ile306Val	1	0.04
152	p.Arg158Gln(;)IVS10-11G>A	1	0.04
153	p.Arg158Gln(;)IVS2+5G>A	1	0.04
154	p.Arg158Gln(;)Arg261Ter	1	0.04
155	p.Arg158Gln(;)Ser349Pro	1	0.04
156	p.Arg158Gln(;)Tyr414Cys	1	0.04	landscape
157	p.Arg158Trp(;)Arg261Gln	1	0.04
158	p.Arg243Gln(;)IVS10-11G>A	1	0.04
159	p.Arg243Gln(;)IVS12+1G>A	1	0.04	landscape
160	p.Arg243Gln(;)Tyr414Cys	1	0.04
161	p.Arg243Ter(;)Glu280Lys	1	0.04
162	p.Arg243Ter(;)IVS2+5G>A	1	0.04
163	p.Arg243Ter(;)Arg252Trp	1	0.04
164	p.Arg252Trp(;)Ala403Val	1	0.04
165	p.Arg252Trp(;)Ile306Val	1	0.04
166	p.Arg261Gln(;)Ala300Ser	1	0.04
167	p.Arg261Gln(;)Ser349Pro	1	0.04
168	p.Arg261Ter(;)Ile306Val	1	0.04
169	p.Arg261Ter(;)Tyr414Cys	1	0.04
170	p.Ser16Ter(;)Glu390Gly	1	0.04
171	p.Ser16Ter(;)Ile306Val	1	0.04
172	p.Ser16Ter(;)IVS10-11G>A	1	0.04
173	p.Ser16Ter(;)Pro279Leu	1	0.04
174	p.Ser16Ter(;)Arg158Gln	1	0.04
175	p.Ser16Ter(;)Arg252Trp	1	0.04
176	p.Ser16Ter(;)Arg261Gln	1	0.04
177	p.Ser16Ter(;)Tyr414Cys	1	0.04
	Total:	2349

patients included from: Stjiljkovic et alDjordojevic et al

	Genotype	Patients	Frequency in %
1	p.Leu48Ser(;)Arg408Trp	10	11.11	landscape
2	p.Leu48Ser(;)Leu48Ser	9	10.00	landscape
3	p.Arg408Trp(;)Glu390Gly	6	6.67	landscape
4	p.Leu48Ser(;)Arg158Gln	5	5.56	landscape
5	p.Leu48Ser(;)Pro281Leu	4	4.44
6	p.Leu48Ser(;)Ile306Val	3	3.33
7	p.Leu48Ser(;)Ser231Phe	3	3.33
8	p.Glu390Gly(;)Arg158Gln	2	2.22
9	p.Glu390Gly(;)Arg261Ter	2	2.22
10	p.IVS12+1G>A(;)Arg297His	2	2.22
11	p.Leu48Ser(;)Gln20Ter	2	2.22
12	p.Leu48Ser(;)Arg261Gln	2	2.22	landscape
13	p.Leu48Ser(;)Val177Leu	2	2.22
14	p.Pro281Leu(;)IVS12+1G>A	2	2.22
15	p.Pro281Leu(;)Pro225Thr	2	2.22
16	p.Pro281Leu(;)Pro281Leu	2	2.22	landscape
17	p.Gln20Ter(;)Val177Leu	2	2.22
18	p.Arg111Ter(;)IVS10-11G>A	2	2.22
19	p.Arg261Gln(;)Ile306Val	2	2.22
20	p.Arg261Gln(;)IVS12+1G>A	2	2.22
21	p.Arg261Ter(;)Ile306Val	2	2.22
22	p.Arg408Trp(;)Pro225Thr	2	2.22
23	p.Arg408Trp(;)Arg252Gln	2	2.22
24	p.Arg408Trp(;)Arg408Trp	2	2.22	landscape
25	p.Arg408Trp(;)Arg413Pro	2	2.22
26	p.Ala403Val(;)Arg408Trp	1	1.11	landscape
27	p.Glu390Gly(;)Pro281Leu	1	1.11
28	p.Ile306Val(;)Pro416Gln	1	1.11
29	p.Ile306Val(;)Arg408Trp	1	1.11	landscape
30	p.Leu48Ser(;)Pro225Thr	1	1.11
31	p.Leu48Ser(;)Val177Met	1	1.11
32	p.Arg111Ter(;)Arg111Ter	1	1.11
33	p.Arg243Ter(;)Arg243Ter	1	1.11
34	p.Arg261Gln(;)L15/S16fs	1	1.11
35	p.Arg261Gln(;)L15fs	1	1.11
36	p.Arg408Trp(;)IVS10+3 A>G	1	1.11
37	p.Arg408Trp(;)Val177Leu	1	1.11
38	p.Tyr414Cys(;)IVS10-11G>A	1	1.11
39	p.Tyr414Cys(;)Leu213Pro	1	1.11
	Total:	90

patients included from: Polak et al

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	54	27.00	landscape
2	p.IVS12+1G>A(;)Arg408Trp	10	5.00	landscape
3	p.Ala403Val(;)Arg408Trp	9	4.50	landscape
4	p.Pro281Leu(;)Arg408Trp	8	4.00	landscape
5	p.Arg158Gln(;)Arg408Trp	8	4.00	landscape
6	p.Arg252Trp(;)Arg252Trp	7	3.50	landscape
7	p.Arg261Gln(;)Arg408Trp	6	3.00	landscape
8	p.Ile306Val(;)Arg408Trp	5	2.50	landscape
9	p.Arg252Trp(;)Arg408Trp	5	2.50	landscape
10	p.IVS2+5G>C(;)Arg408Trp	4	2.00
11	p.Arg158Gln(;)Arg158Gln	4	2.00
12	p.ex5 del4232ins268(;)Arg408Trp	4	2.00
13	p.IVS10-11G>A(;)Arg408Trp	3	1.50	landscape
14	p.IVS4+5G>T(;)Arg408Trp	3	1.50
15	p.IVS7+1G>A(;)Arg408Trp	3	1.50
16	p.Ala300Ser(;)Arg408Trp	2	1.00	landscape
17	p.IVS12+1G>A(;)Ile306Val	2	1.00
18	p.Val245Ala(;)Arg408Trp	2	1.00	landscape
19	p.Ala403Val(;)Ala300Ser	1	0.50
20	p.Ala403Val(;)Ala322Thr	1	0.50
21	p.Ala403Val(;)Arg158Gln	1	0.50
22	p.Ala403Val(;)ex5 del4232ins268	1	0.50
23	p.Phe55LeufsTer6(;)Phe55LeufsTer6	1	0.50
24	p.Ile65Thr(;)Ile65Thr	1	0.50
25	p.IVS10-11G>A(;)Ile306Val	1	0.50
26	p.IVS10-11G>A(;)Leu213Pro	1	0.50
27	p.IVS10-11G>A(;)Arg176Ter	1	0.50
28	p.IVS12+1G>A(;)Ala300Ser	1	0.50
29	p.IVS12+1G>A(;)Glu390Gly	1	0.50
30	p.IVS12+1G>A(;)IVS10-11G>A	1	0.50
31	p.IVS12+1G>A(;)IVS12+1G>A	1	0.50
32	p.IVS12+1G>A(;)IVS2+5G>C	1	0.50
33	p.IVS12+1G>A(;)Arg158Gln	1	0.50
34	p.IVS12+1G>A(;)Arg252Trp	1	0.50
35	p.IVS12+1G>A(;)Arg261Gln	1	0.50
36	p.IVS12+1G>A(;)Val177Met	1	0.50
37	p.IVS4+5G>T(;)IVS4+5G>T	1	0.50
38	p.IVS4+5G>T(;)Val177Met	1	0.50
39	p.Lys320Asn(;)Tyr414Cys	1	0.50
40	p.Leu348Val(;)Glu390Gly	1	0.50
41	p.Leu358Phe(;)Phe331Ser	1	0.50
42	p.Pro281Leu(;)IVS2+5G>C	1	0.50
43	p.Pro281Leu(;)Thr278Asn	1	0.50
44	p.Arg158Gln(;)Phe39Leu	1	0.50
45	p.Arg158Gln(;)Lys320Asn	1	0.50
46	p.Arg158Gln(;)Tyr414Cys	1	0.50	landscape
47	p.Arg243Ter(;)Pro281Leu	1	0.50
48	p.Arg252Trp(;)Ala300Ser	1	0.50
49	p.Arg261Gln(;)Ala300Ser	1	0.50
50	p.Arg261Gln(;)Ala403Val	1	0.50
51	p.Arg261Gln(;)Ile306Val	1	0.50
52	p.Arg261Gln(;)IVS2+5G>C	1	0.50
53	p.Arg261Gln(;)Leu348Val	1	0.50
54	p.Arg261Gln(;)Arg158Gln	1	0.50
55	p.Arg261Gln(;)Arg261Gln	1	0.50	landscape
56	p.Arg261Gln(;)Trp326Ter	1	0.50
57	p.Arg270Ile(;)Ile306Val	1	0.50
58	p.Arg408Trp(;)Ala104Asp	1	0.50
59	p.Arg408Trp(;)Glu390Gly	1	0.50	landscape
60	p.Arg408Trp(;)Phe233Ile	1	0.50
61	p.Arg408Trp(;)Phe55LeufsTer6	1	0.50
62	p.Arg408Trp(;)IVS5-6T>G	1	0.50
63	p.Arg408Trp(;)Lys320Asn	1	0.50
64	p.Arg408Trp(;)Pro211Thr	1	0.50
65	p.Arg408Trp(;)Gln20Ter	1	0.50
66	p.Arg408Trp(;)Gln336Ter	1	0.50
67	p.Arg408Trp(;)Arg270Ile	1	0.50
68	p.Arg408Trp(;)Arg53His	1	0.50
69	p.Arg408Trp(;)Ser349Pro	1	0.50
70	p.Arg408Trp(;)Thr278Asn	1	0.50
71	p.Arg408Trp(;)Tyr204Cys	1	0.50
72	p.Arg408Trp(;)Tyr414Cys	1	0.50	landscape
73	p.Arg68Ser(;)IVS7+1G>A	1	0.50
74	p.Val230Ile(;)ex3del4765	1	0.50
75	p.Val245Ala(;)Phe233Ile	1	0.50
76	p.Tyr387Ter(;)ex5 del4232ins268	1	0.50
77	p.Tyr414Cys(;)Tyr414Cys	1	0.50
78	p.ex5 del4232ins268(;)IVS2+5G>C	1	0.50
79	p.ex5 del4232ins268(;)IVS7+1G>A	1	0.50
	Total:	200

patients included from: Tansek et al

	Genotype	Patients	Frequency in %
1	p.Arg158Gln(;)Glu390Gly	4	11.43
2	p.Leu48Ser(;)IVS4-5C>G	2	5.71
3	p.Pro281Leu(;)Ala403Val	2	5.71
4	p.Arg261Gln(;)Glu390Gly	2	5.71
5	p.Glu390Gly(;)Arg408Trp	1	2.86	landscape
6	p.Phe55LeufsTer6(;)IVS12+1G>A	1	2.86
7	p.Phe55LeufsTer6(;)Arg157Ser	1	2.86
8	p.Phe55LeufsTer6(;)Arg408Trp	1	2.86
9	p.IVS10-3C>T(;)IVS12+1G>A	1	2.86
10	p.IVS10-3C>T(;)Arg408Trp	1	2.86
11	p.IVS12+1G>A(;)Ala403Val	1	2.86
12	p.IVS4+5G>T(;)Glu178Gly	1	2.86
13	p.IVS8+2T>C(;)IVS10-3C>T	1	2.86
14	p.IVS8-2A>G(;)Glu390Gly	1	2.86
15	p.Leu48Ser(;)Ser349Pro	1	2.86
16	p.N133Rfs(;)IVS8-7A>G	1	2.86
17	p.Gln226His(;)Ala403Val	1	2.86
18	p.Arg157Ser(;)Arg158Gln	1	2.86
19	p.Arg158Gln(;)IVS10-3C>T	1	2.86
20	p.Arg158Gln(;)Arg408Trp	1	2.86	landscape
21	p.Arg158Gln(;)Val177Leu	1	2.86
22	p.Arg261Gln(;)Arg408Trp	1	2.86	landscape
23	p.Arg408Trp(;)Asp415Asn	1	2.86
24	p.Arg408Trp(;)Arg408Trp	1	2.86	landscape
25	p.Val45Ala(;)Pro281Leu	1	2.86
26	p.ex3del4765(;)Ala300Ser	1	2.86
27	p.ex5del955(;)Asp415Asn	1	2.86
28	p.ex5del955(;)Arg261Gln	1	2.86
29	p.ex5del955(;)Arg408Trp	1	2.86
	Total:	35

patients included from: Couce et alDesviat et alBueno et alAldamiz-Echevarria et al

	Genotype	Patients	Frequency in %
1	p.IVS10-11G>A(;)IVS10-11G>A	22	3.82	landscape
2	p.Arg261Gln(;)IVS10-11G>A	12	2.08	landscape
3	p.IVS4+5G>T(;)Val388Met	11	1.91
4	p.Arg243Gln(;)IVS10-11G>A	9	1.56
5	p.IVS10-11G>A(;)Ile65Thr	8	1.39	landscape
6	p.Ser349Pro(;)Ser349Pro	8	1.39
7	p.Tyr204Ter(;)Arg68Ser	8	1.39
8	p.Ala403Val(;)Arg261Gln	6	1.04
9	p.Phe55LeufsTer6(;)Arg261Gln	6	1.04
10	p.Ile65Thr(;)Val388Met	6	1.04
11	p.Ala403Val(;)=	5	0.87
12	p.Glu280Lys(;)Glu280Lys	5	0.87
13	p.Glu280Lys(;)Val388Met	5	0.87
14	p.IVS12+1G>A(;)IVS12+1G>A	5	0.87
15	p.Arg243Ter(;)IVS10-11G>A	5	0.87
16	p.Arg261Gln(;)Ile65Thr	5	0.87
17	p.Ala403Val(;)Val388Met	4	0.69
18	p.Arg176Leu(;)Arg261Gln	4	0.69
19	p.Ile65Thr(;)Gln304=	4	0.69
20	p.IVS1+5G>T(;)Glu390Gly	4	0.69
21	p.IVS4+5G>T(;)IVS10-11G>A	4	0.69
22	p.Leu48Ser(;)Tyr277Asp	4	0.69
23	p.Met1Ile(;)Phe55Leu	4	0.69
24	p.Arg261Pro(;)Ile65Thr	4	0.69
25	p.Arg261Gln(;)Arg261Gln	4	0.69	landscape
26	p.Arg261Gln(;)Arg408Trp	4	0.69	landscape
27	p.Arg408Trp(;)Arg408Trp	4	0.69	landscape
28	p.Ser303Ala(;)Gly46Ser	4	0.69
29	p.Ser349Pro(;)Arg261Gln	4	0.69
30	p.Ser349Pro(;)Val388Met	4	0.69
31	p.Val388Met(;)IVS8-7A>G	4	0.69
32	p.Val388Met(;)Leu48Ser	4	0.69
33	p.Val388Met(;)Val388Met	4	0.69
34	p.Val388Met(;)Tyr414Cys	4	0.69
35	p.Val388Met(;)=	4	0.69
36	p.Tyr414Cys(;)Gly46Ser	4	0.69
37	p.Ala300Ser(;)Cys203Tyr	3	0.52
38	p.Ala403Val(;)Phe55LeufsTer6	3	0.52
39	p.Arg176Leu(;)Tyr414Cys	3	0.52
40	p.Arg243Ter(;)Arg176Leu	3	0.52
41	p.Gly46Ser(;)Arg243Gln	3	0.52
42	p.IVS4+5G>T(;)Arg243Gln	3	0.52
43	p.IVS4nt+5G>A(;)Val388Met	3	0.52
44	p.Leu48Ser(;)=	3	0.52
45	p.Arg243Gln(;)Val388Met	3	0.52
46	p.Arg261Gln(;)Arg261Pro	3	0.52
47	p.Ser87Arg(;)Arg261Gln	3	0.52
48	p.Thr380Met(;)IVS10-11G>A	3	0.52
49	p.Val388Met(;)IVS10-11G>A	3	0.52
50	p.Val388Met(;)IVS7+3G>C	3	0.52
51	p.Tyr414Cys(;)Leu348Val	3	0.52
52	p.Ala300Ser(;)Gln304=	2	0.35
53	p.Ala403Val(;)Val177Met	2	0.35
54	p.Arg176Leu(;)=	2	0.35
55	p.Arg176Leu(;)Leu48Ser	2	0.35
56	p.Arg176Leu(;)Phe39del	2	0.35
57	p.Arg243Gln(;)Ala300Ser	2	0.35
58	p.Arg243Gln(;)Arg261Gln	2	0.35
59	p.Arg243Ter(;)=	2	0.35
60	p.Arg243Ter(;)Phe39del	2	0.35
61	p.Arg261Gln(;)=	2	0.35
62	p.Arg261Gln(;)Glu390Gly	2	0.35
63	p.Arg261Ter(;)IVS10-11G>A	2	0.35
64	p.Arg68Ser(;)Arg68Ser	2	0.35
65	p.Asp415Asn(;)Ile65Thr	2	0.35
66	p.Glu280Lys(;)Arg261Gln	2	0.35
67	p.Glu390Gly(;)Val388Met	2	0.35
68	p.Glu66Lys(;)Ser349Pro	2	0.35
69	p.Glu178Gly(;)Ala300Ser	2	0.35
70	p.Glu205Lys(;)Arg243Ter	2	0.35
71	p.Glu280Lys(;)IVS10-11G>A	2	0.35
72	p.Glu280Lys(;)Thr380Met	2	0.35
73	p.Gly46Ser(;)Arg252Trp	2	0.35
74	p.Ile65Thr(;)Ala309Val	2	0.35
75	p.Ile65Thr(;)Phe55Leu	2	0.35
76	p.Ile65Thr(;)Pro275Arg	2	0.35
77	p.Ile65Thr(;)Arg158Gln	2	0.35
78	p.Ile65Thr(;)Arg243Ter	2	0.35
79	p.IVS10-11G>A(;)Phe39del	2	0.35
80	p.IVS10-11G>A(;)Ala403Val	2	0.35
81	p.IVS10-11G>A(;)Asp415Asn	2	0.35
82	p.IVS10-11G>A(;)Cys217Gly	2	0.35
83	p.IVS10-11G>A(;)Asn61Lys	2	0.35
84	p.IVS1+5G>T(;)Arg261Gln	2	0.35
85	p.IVS4+5G>T(;)=	2	0.35
86	p.IVS4+5G>T(;)IVS4+5G>T	2	0.35
87	p.IVS4+5G>T(;)IVS8-7A>G	2	0.35
88	p.Ile65Thr(;)=	2	0.35
89	p.Ile65Thr(;)IVS8-7A>G	2	0.35
90	p.Leu258Pro(;)Leu258Pro	2	0.35
91	p.Leu48Ser(;)Ala395Gly	2	0.35
92	p.Pro211Thr(;)IVS10-11G>A	2	0.35
93	p.Pro275Arg(;)Arg158Gln	2	0.35
94	p.Pro281Leu(;)Arg408Trp	2	0.35
95	p.Pro281Leu(;)Pro281Leu	2	0.35
96	p.Gln304=(;)Arg176Leu	2	0.35
97	p.Arg155Cys(;)Gly289Arg	2	0.35
98	p.Arg158Gln(;)Glu280Lys	2	0.35
99	p.Arg158Gln(;)Leu48Ser	2	0.35	landscape
100	p.Arg243Ter(;)Leu48Ser	2	0.35
101	p.Arg243Ter(;)Val388Met	2	0.35
102	p.Arg261Gln(;)Ala300Ser	2	0.35
103	p.Arg270Lys(;)IVS10-11G>A	2	0.35
104	p.Arg408Trp(;)Arg252Gln	2	0.35
105	p.Arg68Ser(;)Phe39del	2	0.35
106	p.Arg68Ser(;)IVS10-11G>A	2	0.35
107	p.Arg68Ser(;)IVS12+1G>A	2	0.35
108	p.Arg68Ser(;)Pro362Thr	2	0.35
109	p.Ser87Arg(;)Gly352ValfsTer48	2	0.35
110	p.Ser349Pro(;)IVS10-11G>A	2	0.35
111	p.Tyr198CysfsTer136(;)Val230Ile	2	0.35
112	p.Tyr414Cys(;)IVS4+5G>T	2	0.35
113	p.Tyr414Cys(;)Tyr414Cys	2	0.35
114	p.Val388Met(;)Arg261Gln	2	0.35
115	p.Tyr414Cys(;)Gly272Ter	2	0.35
116	p.Tyr414Cys(;)IVS4nt+5G>A	2	0.35
117	p.Phe39del(;)Arg176Ter	2	0.35
118	p.168+5G>A(;)Ile65Thr	1	0.17
119	p.168+5G>A(;)Ser349Pro	1	0.17
120	p.353-1G>C(;)Ser349Pro	1	0.17
121	p.442-5C>G(;)IVS12+1G>A	1	0.17
122	p.Ala104Asp(;)Arg158Gln	1	0.17
123	p.Ala309Val(;)IVS1+5G>T	1	0.17
124	p.Ala300Ser(;)=	1	0.17
125	p.Ala300Ser(;)Ala300Ser	1	0.17
126	p.Ala300Ser(;)Arg68Ser	1	0.17
127	p.Ala300Ser(;)Glu390Gly	1	0.17
128	p.Ala300Ser(;)IVS10-11G>A	1	0.17
129	p.Ala300Ser(;)IVS7+3G>C	1	0.17
130	p.Ala300Ser(;)Ile174Val	1	0.17
131	p.Ala300Ser(;)Leu48Ser	1	0.17
132	p.Ala300Ser(;)Val388Met	1	0.17
133	p.Ala309Val(;)Ala309Val	1	0.17
134	p.Ala309Val(;)Glu390Gly	1	0.17
135	p.Ala313Val(;)IVS10-11G>A	1	0.17
136	p.Ala403Val(;)Ala403Val	1	0.17
137	p.Ala403Val(;)Arg243Gln	1	0.17
138	p.Ala403Val(;)Arg420Met	1	0.17
139	p.Ala403Val(;)IVS11+88del	1	0.17
140	p.Ala403Val(;)Tyr417His	1	0.17
141	p.Ala47Val(;)Glu178Gly	1	0.17
142	p.Ala47Val(;)IVS10-11G>A	1	0.17
143	p.Arg111Ter(;)=	1	0.17
144	p.Arg158Gln(;)=	1	0.17
145	p.Arg158Gln(;)Arg158Gln	1	0.17
146	p.Arg176Gln(;)Val388Met	1	0.17
147	p.Arg176Leu(;)Arg243Gln	1	0.17
148	p.Arg176Leu(;)Arg408Trp	1	0.17
149	p.Arg176Leu(;)Glu280Lys	1	0.17
150	p.Arg176Leu(;)Glu390Gly	1	0.17
151	p.Arg176Leu(;)Tyr277Asp	1	0.17
152	p.Arg241His(;)=	1	0.17
153	p.Arg241His(;)Ile421Thr	1	0.17
154	p.Arg241His(;)Ser349Pro	1	0.17
155	p.Arg243Gln(;)Arg408Gln	1	0.17
156	p.Arg243Gln(;)Leu348Val	1	0.17
157	p.Arg243Gln(;)Tyr277Asp	1	0.17
158	p.Arg243Ter(;)Ala300Ser	1	0.17
159	p.Arg243Ter(;)Arg243Ter	1	0.17
160	p.Arg243Ter(;)Arg408Trp	1	0.17
161	p.Arg243Ter(;)Lys361Gln	1	0.17
162	p.Arg243Ter(;)Pro281Ser	1	0.17
163	p.Arg261Gln(;)Asp415Asn	1	0.17
164	p.Arg261Gln(;)Ser196LeufsTer2	1	0.17
165	p.Arg261Ter(;)Arg158Gln	1	0.17
166	p.Arg261Ter(;)Pro147Leu	1	0.17
167	p.Arg270Lys(;)Leu348Val	1	0.17
168	p.Arg297Cys(;)?	1	0.17
169	p.Arg297Cys(;)Arg297Cys	1	0.17
170	p.Arg297His(;)=	1	0.17
171	p.Arg408Trp(;)=	1	0.17
172	p.Arg408Trp(;)Arg408Gln	1	0.17
173	p.Arg408Trp(;)IVS8+1G>A	1	0.17
174	p.Arg408Trp(;)Phe39del	1	0.17
175	p.Arg408Trp(;)Tyr414Cys	1	0.17
176	p.Arg68Ser(;)Ala403Val	1	0.17
177	p.Arg68Ser(;)Arg158Gln	1	0.17
178	p.Arg68Ser(;)Asp415Asn	1	0.17
179	p.Arg68Ser(;)Met276Lys	1	0.17
180	p.Asn438LysfsTer2(;)Arg158Gln	1	0.17
181	p.Asp129Gly(;)Asp129Gly	1	0.17
182	p.Asp145Val(;)=	1	0.17
183	p.Asp415Asn(;)IVS4+5G>T	1	0.17
184	p.Asp415Asn(;)Pro122Ser	1	0.17
185	p.Asp415Asn(;)Arg176Ter	1	0.17
186	p.Glu390Gly(;)IVS12nt1	1	0.17
187	p.Phe55Leu(;)Pro281Leu	1	0.17
188	p.Gln304=(;)Gln304=	1	0.17
189	p.Glu178Gly(;)Ala403Val	1	0.17
190	p.Glu280Lys(;)Glu353AsnfsTer47	1	0.17
191	p.Glu280Lys(;)IVS4+5G>T	1	0.17
192	p.Glu353AsnfsTer47(;)Ala403Val	1	0.17
193	p.Glu353AsnfsTer47(;)Ile306Val	1	0.17
194	p.Glu390Gly(;)=	1	0.17
195	p.Glu390Gly(;)Glu390Gly	1	0.17
196	p.Glu390Gly(;)IVS12+1G>A	1	0.17
197	p.Glu390Gly(;)IVS4+5G>T	1	0.17
198	p.Gly272Ter(;)Gly289Arg	1	0.17
199	p.Gly352ValfsTer48(;)Glu390Gly	1	0.17
200	p.Gly352ValfsTer48(;)Gly352ValfsTer48	1	0.17
201	p.Ile65Thr(;)Ala300Ser	1	0.17
202	p.Ile65Thr(;)Pro244Leu	1	0.17
203	p.Ile65Thr(;)Arg408Gln	1	0.17
204	p.Ile65Thr(;)S196fs	1	0.17
205	p.IVS1+5G>A(;)Ala403Val	1	0.17
206	p.IVS10-11G>A(;)=	1	0.17
207	p.IVS10-11G>A(;)Arg297His	1	0.17
208	p.IVS10-11G>A(;)Asp129Gly	1	0.17
209	p.IVS10-11G>A(;)Glu353AsnfsTer47	1	0.17
210	p.IVS10-11G>A(;)Glu390Gly	1	0.17
211	p.IVS10-11G>A(;)Pro362Thr	1	0.17
212	p.IVS10-3C>T(;)Arg408Trp	1	0.17
213	p.IVS10-3C>T(;)IVS10-3C>T	1	0.17
214	p.IVS10-11G>A(;)Gly352ValfsTer48	1	0.17
215	p.IVS12+1G>A(;)Gly272Ter	1	0.17
216	p.IVS12+1G>A(;)Phe55Leu	1	0.17
217	p.IVS1+5G>T(;)Arg261Pro	1	0.17
218	p.IVS1+5G>T(;)Leu348Val	1	0.17
219	p.IVS2+5G>A(;)Ile65Thr	1	0.17
220	p.IVS4+5G>T(;)Ala300Ser	1	0.17
221	p.IVS4+5G>T(;)Pro281Leu	1	0.17
222	p.IVS4nt+5G>A(;)Glu390Gly	1	0.17
223	p.IVS4nt+5G>A(;)IVS10-11G>A	1	0.17
224	p.IVS4nt+5G>A(;)R256Q	1	0.17
225	p.IVS4nt+5G>A(;)=	1	0.17
226	p.IVS7+1G>A(;)Arg261Gln	1	0.17
227	p.IVS7+1G>A(;)IVS7+1G>A	1	0.17
228	p.IVS8+1G>A(;)?	1	0.17
229	p.IVS8-7A>G(;)Arg53His	1	0.17
230	p.IVS8-7A>G(;)IVS8+1G>A	1	0.17
231	p.Ile164Val(;)?	1	0.17
232	p.Ile269Leu(;)Val388Met	1	0.17
233	p.Ile65Thr(;)Arg243Gln	1	0.17
234	p.Ile65Thr(;)IVS4+5G>T	1	0.17
235	p.Ile65Thr(;)Ile406Thr	1	0.17
236	p.Ile65Thr(;)Ser16Ter	1	0.17
237	p.Ile65Thr(;)Ser349Pro	1	0.17
238	p.Ile65Thr(;)Val245Ala	1	0.17
239	p.Leu348Val(;)Arg261Pro	1	0.17
240	p.Leu311Pro(;)IVS7+1G>A	1	0.17
241	p.Leu348Val(;)Arg252Trp	1	0.17
242	p.Leu348Val(;)Arg261Gln	1	0.17
243	p.Leu348Val(;)Val388Met	1	0.17
244	p.Leu48Ser(;)Ile65Thr	1	0.17
245	p.Leu48Ser(;)Pro275Arg	1	0.17
246	p.Leu54Ser(;)IVS8+1G>A	1	0.17
247	p.Pro122Gln(;)Phe39Leu	1	0.17
248	p.Pro244Leu(;)Arg261Gln	1	0.17
249	p.Pro275Arg(;)Leu348Val	1	0.17
250	p.Phe39Leu(;)Arg408Trp	1	0.17
251	p.Phe39del(;)Phe39del	1	0.17
252	p.Phe55Leu(;)Lys42Glu	1	0.17
253	p.Phe55Leu(;)Phe39del	1	0.17
254	p.Phe55LeufsTer6(;)Lys363Asn	1	0.17
255	p.Pro147Ser(;)Arg243Gln	1	0.17
256	p.Pro211Thr(;)Phe55Leu	1	0.17
257	p.Pro281Leu(;)=	1	0.17
258	p.Pro281Leu(;)Asp338Tyr	1	0.17
259	p.Pro281Leu(;)Gln20Ter	1	0.17
260	p.Pro281Leu(;)IVS10-11G>A	1	0.17
261	p.Pro281Leu(;)Ser349Pro	1	0.17
262	p.Pro362Thr(;)Ala300Ser	1	0.17
263	p.Arg176Leu(;)Pro281Leu	1	0.17
264	p.Arg176Ter(;)Arg261Gln	1	0.17
265	p.Arg243Gln(;)Glu390Gly	1	0.17
266	p.Arg261Ter(;)Arg243Gln	1	0.17
267	p.Arg261Ter(;)Arg261Ter	1	0.17
268	p.Arg408Gln(;)Leu311Pro	1	0.17
269	p.Arg68Ser(;)IVS4nt+5G>A	1	0.17
270	p.Arg68Ser(;)IVS7nt3	1	0.17
271	p.Ser349Pro(;)Arg261Pro	1	0.17
272	p.Ser87Arg(;)Ser349Pro	1	0.17
273	p.Ser349Pro(;)=	1	0.17
274	p.Ser349Pro(;)Ala322Thr	1	0.17
275	p.Ser349Pro(;)Ala403Val	1	0.17
276	p.Ser349Pro(;)Arg243Ter	1	0.17
277	p.Ser349Pro(;)Arg408Trp	1	0.17
278	p.Ser349Pro(;)Arg68Ser	1	0.17
279	p.Ser349Pro(;)Gly148Val	1	0.17
280	p.Ser349Pro(;)Ser391PhefsTer2	1	0.17
281	p.Ser349Pro(;)Tyr198CysfsTer136	1	0.17
282	p.Ser349Pro(;)Tyr343Asp	1	0.17
283	p.Ser70Phe(;)Ala300Ser	1	0.17
284	p.Ser87Arg(;)Ala403Val	1	0.17
285	p.Ser87Arg(;)IVS12+1G>A	1	0.17
286	p.Thr418Asn(;)IVS10-11G>A	1	0.17
287	p.Thr380Met(;)Ala300Ser	1	0.17
288	p.Thr380Met(;)Ala403Val	1	0.17
289	p.Thr380Met(;)Arg243Gln	1	0.17
290	p.Tyr206Ter(;)Ala309Val	1	0.17
291	p.Tyr206Ter(;)Thr380Met	1	0.17
292	p.Tyr277Asp(;)Tyr277Asp	1	0.17
293	p.Tyr414Cys(;)=	1	0.17
294	p.Tyr414Cys(;)Arg261Gln	1	0.17
295	p.Tyr417His(;)=	1	0.17
296	p.Val388Met(;)Arg261Pro	1	0.17
297	p.Val177Met(;)Arg261Gln	1	0.17
298	p.Val177Met(;)Val388Met	1	0.17
299	p.Val230Ile(;)=	1	0.17
300	p.Val230Ile(;)Arg408Trp	1	0.17
301	p.Val245Ala(;)Cys217Gly	1	0.17
302	p.Val245Ala(;)IVS10-11G>A	1	0.17
303	p.Val388Leu(;)Pro281Leu	1	0.17
304	p.Val388Met(;)Ala309Val	1	0.17
305	p.Val388Met(;)Arg408Trp	1	0.17
306	p.Val388Met(;)Arg68Ser	1	0.17
307	p.Val388Met(;)IVS1+5G>T	1	0.17
308	p.Val388Met(;)IVS1-13del9	1	0.17
309	p.Val388Met(;)Pro281Leu	1	0.17
310	p.ex5del(;)Ala313Val	1	0.17
	Total:	576

patients included from: Svensson et al

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)IVS12+1G>A	9	18.00	landscape
2	p.IVS12+1G>A(;)Tyr414Cys	5	10.00	landscape
3	p.Arg408Trp(;)Arg408Trp	5	10.00	landscape
4	p.Arg408Trp(;)Tyr414Cys	5	10.00	landscape
5	p.Tyr414Cys(;)Tyr414Cys	5	10.00
6	p.IVS12+1G>A(;)IVS12+1G>A	4	8.00
7	p.Arg158Gln(;)Tyr414Cys	2	4.00	landscape
8	p.Arg243Ter(;)Tyr414Cys	2	4.00
9	p.Arg408Trp(;)Ala322Gly	2	4.00
10	p.Ala322Gly(;)Arg408Gln	1	2.00
11	p.Gly272Ter(;)Tyr414Cys	1	2.00
12	p.Gly272Ter(;)Leu365del	1	2.00
13	p.IVS12+1G>A(;)Arg252Trp	1	2.00
14	p.IVS12+1G>A(;)Gly272Ter	1	2.00
15	p.Pro281Leu(;)Pro281Leu	1	2.00	landscape
16	p.Arg252Trp(;)Ala322Gly	1	2.00
17	p.Arg261Gln(;)Arg261Gln	1	2.00	landscape
18	p.Arg408Trp(;)Pro281Leu	1	2.00	landscape
19	p.Arg408Trp(;)Arg408Gln	1	2.00
20	p.Tyr414Cys(;)Arg408Gln	1	2.00
	Total:	50

patients included from: Murad et al

	Genotype	Patients	Frequency in %
1	p.Phe55LeufsTer6(;)Phe55LeufsTer6	3	10.34
2	p.Arg243Gln(;)Arg243Gln	3	10.34
3	p.Arg261Gln(;)Arg261Gln	3	10.34	landscape
4	p.Glu280Lys(;)Glu280Lys	2	6.90
5	p.IVS10-11G>A(;)IVS10-11G>A	2	6.90	landscape
6	p.IVS2+5G>C(;)IVS2+5G>C	2	6.90
7	p.Pro281Leu(;)Pro281Leu	2	6.90	landscape
8	p.Ser310Phe(;)Ser310Phe	2	6.90
9	p.Asp151Glu(;)IVS10-11G>A	1	3.45
10	p.IVS11+1G>A(;)IVS11+1G>A	1	3.45
11	p.IVS4+5G>T(;)IVS4+5G>T	1	3.45
12	p.IVS4+5G>T(;)IVS9+5G>A	1	3.45
13	p.IVS4+5G>T(;)Arg270Lys	1	3.45
14	p.IVS7+1G>A(;)IVS7+1G>A	1	3.45
15	p.IVS9+5G>A(;)IVS9+5G>A	1	3.45
16	p.Arg270Lys(;)Arg270Lys	1	3.45
17	p.Arg408Trp(;)Arg408Trp	1	3.45	landscape
18	p.Tyr387His(;)Tyr387His	1	3.45
	Total:	29

patients included from: Liang et al

	Genotype	Patients	Frequency in %
1	p.Arg241Cys(;)Arg241Cys	6	8.45
2	p.Arg241Cys(;)Tyr204Cys	5	7.04
3	p.Arg241Cys(;)Arg408Gln	3	4.23
4	p.Glu286Lys(;)Arg241Cys	3	4.23
5	p.5'UTRdel(;)Arg408Gln	2	2.82
6	p.5'UTRdel(;)Glu286Lys	2	2.82
7	p.Arg111Ter(;)Arg408Gln	2	2.82
8	p.Arg241Cys(;)Ala434Asp	2	2.82
9	p.Arg408Gln(;)Ala434Asp	2	2.82
10	p.Arg408Trp(;)Arg241Cys	2	2.82
11	p.Arg413Pro(;)Arg408Gln	2	2.82
12	p.Tyr204Cys(;)Tyr204Cys	2	2.82
13	p.5'UTRdel(;)Glu76Gly	1	1.41
14	p.Arg111Ter(;)Arg155His	1	1.41
15	p.Arg111Ter(;)Arg241Cys	1	1.41
16	p.Arg111Ter(;)Gly312Val	1	1.41
17	p.Arg155LeufsTer43(;)Tyr204Cys	1	1.41
18	p.Arg241Cys(;)Arg243Gln	1	1.41
19	p.Arg241Cys(;)IVS8-7A>G	1	1.41
20	p.Arg241Cys(;)Val388Met	1	1.41
21	p.Arg243Gln(;)Arg243Gln	1	1.41
22	p.Arg261Gln(;)=	1	1.41
23	p.Arg261Ter(;)Arg413Pro	1	1.41
24	p.Arg408Gln(;)Tyr204Cys	1	1.41
25	p.Arg408Gln(;)Val399=	1	1.41
26	p.Arg408Trp(;)Arg408Gln	1	1.41
27	p.Arg408Trp(;)Val399=	1	1.41
28	p.Arg413Pro(;)Arg243Gln	1	1.41
29	p.Arg413Pro(;)Arg297His	1	1.41
30	p.Arg413Pro(;)Arg413Pro	1	1.41
31	p.Arg53His(;)Arg243Gln	1	1.41
32	p.Arg53His(;)Arg252Gln	1	1.41
33	p.Arg53His(;)Ser70del	1	1.41
34	p.Glu228Ter(;)Val190Gly	1	1.41
35	p.Glu286Lys(;)=	1	1.41
36	p.Glu286Lys(;)Arg252Gln	1	1.41
37	p.Glu286Lys(;)Arg408Gln	1	1.41
38	p.Gly257Val(;)Arg241Cys	1	1.41
39	p.Gly257Val(;)Gln267Arg	1	1.41
40	p.Gly257Val(;)Gly312Val	1	1.41
41	p.Gly312Val(;)IVS8-7A>G	1	1.41
42	p.IVS4-1G>A(;)Arg241Cys	1	1.41
43	p.IVS7+5G>A(;)Arg243Gln	1	1.41
44	p.Phe302fsTer39(;)Tyr204Cys	1	1.41
45	p.Phe392Ile(;)=	1	1.41
46	p.Phe392Ile(;)Arg408Gln	1	1.41
47	p.Pro314Thr(;)Val399=	1	1.41
48	p.Thr81ValfsTer6(;)Val399=	1	1.41
49	p.Tyr356Ter(;)Arg408Gln	1	1.41
50	p.Val399=(;)Tyr204Cys	1	1.41
	Total:	71

patients included from: Dobrowolski et al

	Genotype	Patients	Frequency in %
1	p.IVS10-11G>A(;)IVS10-11G>A	84	33.33	landscape
2	p.Pro281Leu(;)Pro281Leu	27	10.71	landscape
3	p.Arg261Gln(;)Arg261Gln	27	10.71	landscape
4	p.Arg408Trp(;)Arg408Trp	15	5.95	landscape
5	p.IVS10-11G>A(;)Leu48Ser	13	5.16	landscape
6	p.IVS10-11G>A(;)Arg408Trp	13	5.16	landscape
7	p.Leu48Ser(;)Leu48Ser	12	4.76	landscape
8	p.IVS4+5G>T(;)IVS4+5G>T	11	4.37
9	p.IVS10-11G>A(;)Ala300Ser	10	3.97	landscape
10	p.IVS10-11G>A(;)Pro281Leu	10	3.97	landscape
11	p.Ala300Ser(;)Ala300Ser	9	3.57
12	p.Glu390Gly(;)Glu390Gly	8	3.17
13	p.Arg252Trp(;)Arg252Trp	7	2.78	landscape
14	p.Arg241Cys(;)Arg241Cys	6	2.38
	Total:	252

patients included from: Sarkissian et alEva Morava (personal communication)MatalonYangGuldbergEisensmithUtzQuirkElsas

	Genotype	Patients	Frequency in %
1	p.Arg408Trp(;)Arg408Trp	13	4.55	landscape
2	p.Arg408Trp(;)IVS12+1G>A	11	3.85	landscape
3	p.Tyr414Cys(;)Ile65Thr	9	3.15
4	p.Arg408Trp(;)Tyr414Cys	8	2.80	landscape
5	p.Arg408Trp(;)Ile65Thr	6	2.10
6	p.Ile65Thr(;)Ile65Thr	5	1.75
7	p.Arg408Trp(;)Arg261Gln	5	1.75	landscape
8	p.Leu348Val(;)Leu348Val	4	1.40
9	p.Arg408Trp(;)Leu348Val	4	1.40	landscape
10	p.Glu280Lys(;)Phe299Cys	3	1.05
11	p.IVS12+1G>A(;)IVS12+1G>A	3	1.05
12	p.Pro281Leu(;)IVS12+1G>A	3	1.05
13	p.Arg408Trp(;)Ala104Asp	3	1.05
14	p.Arg408Trp(;)Arg68Ser	3	1.05
15	p.Ala447Asp(;)Arg408Trp	2	0.70
16	p.Glu280Lys(;)Arg408Trp	2	0.70
17	p.Phe39Leu(;)Phe39Leu	2	0.70
18	p.Phe39Leu(;)Gly272Ter	2	0.70
19	p.Phe39Leu(;)Ile65Thr	2	0.70
20	p.Ile65Thr(;)Glu280Lys	2	0.70
21	p.Ile65Thr(;)Leu348Val	2	0.70
22	p.Ile65Thr(;)Leu48Ser	2	0.70
23	p.Ile65Thr(;)Arg111Ter	2	0.70
24	p.Ile65Thr(;)Ser349Pro	2	0.70
25	p.IVS1+5G>T(;)Gly272Ter	2	0.70
26	p.IVS10-11G>A(;)IVS10-11G>A	2	0.70	landscape
27	p.IVS11+20G>C(;)Arg408Trp	2	0.70
28	p.IVS12+1G>A(;)Arg241Cys	2	0.70
29	p.IVS8+1G>A(;)IVS8+1G>A	2	0.70
30	p.IVS8+1G>A(;)Arg408Trp	2	0.70
31	p.Leu48Ser(;)Phe39Leu	2	0.70
32	p.Pro281Leu(;)Ile95del	2	0.70
33	p.Arg176Ter(;)Val388Met	2	0.70
34	p.Arg241His(;)Arg252Trp	2	0.70
35	p.Arg252Gln(;)IVS12+1G>A	2	0.70
36	p.Arg252Trp(;)Gln304Arg	2	0.70
37	p.Arg261Ter(;)IVS10-11G>A	2	0.70
38	p.Arg408Trp(;)Phe39Leu	2	0.70
39	p.Arg408Trp(;)Leu48Ser	2	0.70	landscape
40	p.Arg408Trp(;)Arg243Ter	2	0.70
41	p.Arg68Ser(;)Ile65Thr	2	0.70
42	p.Tyr414Cys(;)Ala104Asp	2	0.70
43	p.Tyr414Cys(;)Arg68Ser	2	0.70
44	p.Ala104Asp(;)Asp222Gly	1	0.35
45	p.Ala104Asp(;)Pro281Leu	1	0.35
46	p.Ala300Ser(;)Arg408Trp	1	0.35	landscape
47	p.Ala395Pro(;)Arg408Trp	1	0.35
48	p.Ala403Val(;)Arg408Trp	1	0.35	landscape
49	p.Asp145Val(;)Val388Met	1	0.35
50	p.Glu280Lys(;)EX6_IVS6del	1	0.35
51	p.Glu280Lys(;)Ile269Leu	1	0.35
52	p.Glu280Lys(;)Leu348Val	1	0.35
53	p.Glu390Gly(;)IVS12+1G>A	1	0.35
54	p.Glu76Ala(;)IVS10-11G>A	1	0.35
55	p.Phe299Cys(;)Cys334Ser	1	0.35
56	p.Phe299Cys(;)Leu48Ser	1	0.35
57	p.Phe299Cys(;)Tyr414Cys	1	0.35
58	p.Phe331Cys(;)Arg408Trp	1	0.35
59	p.Phe39Leu(;)Phe55LeufsTer6	1	0.35
60	p.Phe39Leu(;)F55fdelT	1	0.35
61	p.Gly218Val(;)Ser349Pro	1	0.35
62	p.Gly218Val(;)Tyr414Cys	1	0.35
63	p.Gly272Ter(;)Arg241His	1	0.35
64	p.Gly272Ter(;)Arg408Trp	1	0.35
65	p.Gly352ValfsTer48(;)Val177Leu	1	0.35
66	p.His170Asp(;)His170Asp	1	0.35
67	p.His170Asp(;)Arg261Ter	1	0.35
68	p.Ile283Phe(;)Arg408Trp	1	0.35	landscape
69	p.Ile65Thr(;)Ala403Val	1	0.35
70	p.Ile65Thr(;)Glu178Gly	1	0.35
71	p.Ile65Thr(;)Glu205Asp	1	0.35
72	p.Ile65Thr(;)Phe299Cys	1	0.35
73	p.Ile65Thr(;)IVS10-3C>T	1	0.35
74	p.IVS1+5G>A(;)His170Asp	1	0.35
75	p.IVS1+5G>T(;)IVS1+5G>T	1	0.35
76	p.IVS10-11G>A(;)Glu178Gly	1	0.35
77	p.IVS10-11G>A(;)Pro366His	1	0.35
78	p.IVS10-11G>A(;)Arg408Trp	1	0.35	landscape
79	p.IVS10-3C>T(;)Gly272Ter	1	0.35
80	p.IVS10-3C>T(;)IVS12+1G>A	1	0.35
81	p.IVS12+1G>A(;)Ile65Thr	1	0.35	landscape
82	p.IVS12+1G>A(;)IVS4+5G>T	1	0.35
83	p.IVS12+1G>A(;)Arg68Ser	1	0.35	landscape
84	p.IVS12+1G>A(;)Tyr277Asp	1	0.35
85	p.IVS12+1G>A(;)Tyr386Cys	1	0.35	landscape
86	p.IVS2+1G>A(;)Arg252Trp	1	0.35
87	p.IVS4+1G>A(;)Val190Ala	1	0.35
88	p.IVS4+5G>T(;)Ala403Val	1	0.35
89	p.IVS5+1G>A(;)Arg408Trp	1	0.35
90	p.IVS7+1G>A(;)IVS7+1G>A	1	0.35
91	p.IVS7+1G>A(;)Arg261Gln	1	0.35
92	p.IVS7+5G>A(;)Tyr414Cys	1	0.35
93	p.IVS8+1G>A(;)G352>Vfs	1	0.35
94	p.IVS8+1G>A(;)Ile65Thr	1	0.35
95	p.IVS8+1G>A(;)Leu348Val	1	0.35
96	p.IVS8+1G>A(;)Thr81Pro	1	0.35
97	p.Lys320Asn(;)Leu48Ser	1	0.35
98	p.Leu213Pro(;)Arg261Ter	1	0.35
99	p.Leu249Phe(;)IVS10-11G>A	1	0.35
100	p.Leu249Phe(;)Asn167Ile	1	0.35
101	p.Leu311Pro(;)Tyr386Cys	1	0.35
102	p.Leu41Pro(;)Glu280Lys	1	0.35
103	p.Leu48Ser(;)IVS10-11G>A	1	0.35	landscape
104	p.Leu48Ser(;)IVS12+1G>A	1	0.35
105	p.Leu48Ser(;)Arg158Gln	1	0.35	landscape
106	p.Leu48Ser(;)Arg261Gln	1	0.35	landscape
107	p.Leu48Ser(;)Tyr387His	1	0.35
108	p.N133_Q134>Rfs(;)Val245Leu	1	0.35
109	p.N133_Q134>Rfs(;)Tyr414Cys	1	0.35
110	p.Pro175Ala(;)Ala104Asp	1	0.35
111	p.Pro211HisfsTer130(;)Trp187Ter	1	0.35
112	p.Pro275Ser(;)EX9_EX13del	1	0.35
113	p.Pro281Leu(;)Gly218Val	1	0.35
114	p.Pro281Leu(;)Ile65Thr	1	0.35
115	p.Pro281Leu(;)Leu348Val	1	0.35
116	p.Pro281Leu(;)Phe39Leu	1	0.35
117	p.Pro407Ser(;)Arg408Trp	1	0.35
118	p.Gln20Ter(;)Arg408Trp	1	0.35
119	p.Arg158Gln(;)Gly272Ter	1	0.35
120	p.Arg158Gln(;)IVS12+1G>A	1	0.35
121	p.Arg158Gln(;)IVS4+5G>T	1	0.35
122	p.Arg158Gln(;)Arg261Gln	1	0.35
123	p.Arg241Cys(;)IVS8+1G>A	1	0.35
124	p.Arg241Cys(;)IVS8nt1	1	0.35
125	p.Arg241Cys(;)Ser349Pro	1	0.35
126	p.Arg241Leu(;)Arg408Trp	1	0.35
127	p.Arg243Ter(;)Ile65Thr	1	0.35
128	p.Arg243Ter(;)IVS10-11G>A	1	0.35
129	p.Arg252Trp(;)Pro211Thr	1	0.35
130	p.Arg252Trp(;)Arg408Gln	1	0.35
131	p.Arg252Trp(;)Arg408Trp	1	0.35	landscape
132	p.Arg252Trp(;)Arg68Ser	1	0.35
133	p.Arg252Trp(;)Tyr414Cys	1	0.35
134	p.Arg261Gln(;)Gly272Ter	1	0.35
135	p.Arg261Gln(;)IVS10-11G>A	1	0.35	landscape
136	p.Arg261Gln(;)IVS12+1G>A	1	0.35
137	p.Arg261Gln(;)Leu308Phe	1	0.35
138	p.Arg261Gln(;)Pro211Thr	1	0.35
139	p.Arg261Gln(;)Arg243Leu	1	0.35
140	p.Arg261Gln(;)Arg261Gln	1	0.35	landscape
141	p.Arg261Gln(;)Ile95del	1	0.35
142	p.Arg270Lys(;)Ile95del	1	0.35
143	p.Arg408Trp(;)Ala309Asp	1	0.35
144	p.Arg408Trp(;)Ala309Val	1	0.35
145	p.Arg408Trp(;)Glu205Asp	1	0.35
146	p.Arg408Trp(;)Glu390Gly	1	0.35	landscape
147	p.Arg408Trp(;)Glu78Lys	1	0.35
148	p.Arg408Trp(;)EX6_IVS6del	1	0.35
149	p.Arg408Trp(;)IVS4+1G>A	1	0.35
150	p.Arg408Trp(;)Leu194Pro	1	0.35
151	p.Arg408Trp(;)Leu213Pro	1	0.35
152	p.Arg408Trp(;)Pro281Leu	1	0.35	landscape
153	p.Arg408Trp(;)Arg111Ter	1	0.35
154	p.Arg408Trp(;)Arg158Gln	1	0.35	landscape
155	p.Arg408Trp(;)Arg261Ter	1	0.35
156	p.Arg408Trp(;)Arg408Gln	1	0.35
157	p.Arg408Trp(;)Thr81Pro	1	0.35
158	p.Arg408Trp(;)Val190Ala	1	0.35
159	p.Arg408Trp(;)Leu311*	1	0.35
160	p.Arg68Ser(;)IVS10+3A>G	1	0.35
161	p.Arg68Ser(;)IVS10-11G>A	1	0.35
162	p.Arg68Ser(;)IVS5+1G>A	1	0.35
163	p.Arg68Ser(;)Arg408Gln	1	0.35
164	p.Ser349Leu(;)Arg408Trp	1	0.35
165	p.Ser349Pro(;)Leu48Ser	1	0.35
166	p.Ser349Pro(;)Arg408Trp	1	0.35
167	p.Thr81Pro(;)Phe39Leu	1	0.35
168	p.Val177Leu(;)Phe39Leu	1	0.35
169	p.Val190Ala(;)Ile65Thr	1	0.35
170	p.Val190Ala(;)Ter453ProextTer33	1	0.35
171	p.Val245Ala(;)Phe299Cys	1	0.35
172	p.Val245Glu(;)Pro281Leu	1	0.35
173	p.Val245Leu(;)Tyr414Cys	1	0.35
174	p.Val388Met(;)Glu390Gly	1	0.35
175	p.Val388Met(;)Val388Met	1	0.35
176	p.Val388Met(;)Ser16Ter	1	0.35
177	p.Tyr277Asp(;)Ile65Thr	1	0.35
178	p.Tyr277Asp(;)IVS10-11G>A	1	0.35
179	p.Tyr277Asp(;)Tyr343Cys	1	0.35
180	p.Tyr414Cys(;)Asp282Asn	1	0.35
181	p.Tyr414Cys(;)Gly272Ter	1	0.35
182	p.Tyr414Cys(;)Ile269ThrfsTer72	1	0.35
183	p.Tyr414Cys(;)IVS1+5G>T	1	0.35
184	p.Tyr414Cys(;)IVS10-11G>A	1	0.35
185	p.Tyr414Cys(;)IVS12+1G>A	1	0.35	landscape
186	p.Tyr414Cys(;)Arg158Gln	1	0.35	landscape
187	p.Tyr414Cys(;)Arg408Gln	1	0.35
188	p.Tyr414Cys(;)Tyr414Cys	1	0.35
189	p.Phe39del(;)Ala345Ser	1	0.35
190	p.Phe55LeufsTer6(;)Gln226His	1	0.35
191	p.Ile95del(;)IVS12+1G>A	1	0.35
	Total:	286

40 most frequent Genotypes of our database

Armenia

Australia

Brazil

Chile

China

Croatia

Cyprus

Czech Republic

Denmark

Estonia

France

Georgia

Germany

Iran

Israel

Italy

Japan

Korea

Latvia

Lebanon

Lithuania

Mexico

Northern Ireland

Poland

Portugal

Romania

Russia

Serbia

Slovakia

Slovenia

Spain

Sweden

Syria

Taiwan

Turkey

USA