PAH activity landscapes

	Genotype	Patients	Frequency in %
1	Arg408Trp / Arg408Trp	1603	23.59	landscape
2	Arg261Gln / Arg408Trp	208	3.06	landscape
3	IVS12+1G>A / Arg408Trp	196	2.88	landscape
4	Arg158Gln / Arg408Trp	188	2.77	landscape
5	IVS10-11G>A / IVS10-11G>A	184	2.71	landscape
6	Arg408Trp / IVS10-11G>A	167	2.46	landscape
7	Pro281Leu / Arg408Trp	159	2.34	landscape
8	Arg408Trp / Tyr414Cys	125	1.84	landscape
9	Ala403Val / Arg408Trp	116	1.71	landscape
10	Arg261Gln / Arg261Gln	105	1.55	landscape
11	Arg408Trp / Arg252Trp	77	1.13	landscape
12	Ala300Ser / Arg408Trp	73	1.07	landscape
13	Leu48Ser / Arg408Trp	69	1.02	landscape
14	Pro281Leu / Pro281Leu	68	1.00	landscape
15	Ile306Val / Arg408Trp	63	0.93	landscape
16	Glu390Gly / Arg408Trp	59	0.87	landscape
17	Arg261Term / Arg261Term	50	0.74
18	Arg408Trp / D222*	49	0.72
19	Arg408Trp / Glu280Lys	48	0.71
20	IVS4+5G>T / Arg408Trp	43	0.63
21	Leu48Ser / Leu48Ser	43	0.63	landscape
22	Arg408Trp / Arg243Term	40	0.59
23	IVS12+1G>A / Tyr414Cys	40	0.59	landscape
24	Arg261Gln / IVS10-11G>A	34	0.50	landscape
25	IVS12+1G>A / IVS12+1G>A	34	0.50
26	ex5del / Arg408Trp	34	0.50
27	Arg408Trp / Arg261Term	30	0.44
28	Pro281Leu / IVS10-11G>A	28	0.41	landscape
29	Arg261Gln / IVS12+1G>A	26	0.38
30	Arg252Trp / Arg252Trp	24	0.35	landscape
31	IVS10-11G>A / Ala300Ser	24	0.35	landscape
32	Ile65Thr / Arg408Trp	24	0.35
33	Arg408Trp / Ser349Pro	22	0.32
34	IVS10-11G>A / Leu48Ser	22	0.32	landscape
35	Arg408Trp / Leu348Val	20	0.29	landscape
36	Arg158Gln / IVS12+1G>A	19	0.28
37	Arg297His / Arg408Trp	19	0.28	landscape
38	Arg408Trp / Val245Ala	19	0.28	landscape
39	Leu48Ser / Arg261Gln	17	0.25	landscape
40	Tyr414Cys / Tyr414Cys	17	0.25
	Total:	6794

patients included from: Kostandyan et al

	Genotype	Patients	Frequency in %
1	IVS10-11G>A / IVS10-11G>A	2	8.33	landscape
2	Ala403Val / IVS10-11G>A	1	4.17
3	Arg243Gln / IVS10-11G>A	1	4.17
4	Arg243Gln / Pro281Leu	1	4.17
5	Arg243Term / IVS10-11G>A	1	4.17
6	Arg243Term / Pro281Leu	1	4.17
7	Arg261Gln / IVS10-11G>A	1	4.17	landscape
8	Arg270Lys / Arg243Term	1	4.17
9	Glu390Gly / Arg252Trp	1	4.17
10	IVS10-11G>A / Arg261Term	1	4.17
11	IVS10-11G>A / Arg270Lys	1	4.17
12	IVS10-11G>A / Asp415Asn	1	4.17
13	IVS10-11G>A / W377D	1	4.17
14	IVS10-11G>A / c.1200-2A>G	1	4.17
15	L48S/IVS10-11G>A / Arg261Gln	1	4.17
16	Leu48Ser / Pro279Leu	1	4.17
17	Pro281Leu / Arg408Trp	1	4.17	landscape
18	Pro281Leu / splicing	1	4.17
19	Tyr387His / Arg252Trp	1	4.17
20	c.1089delG, p.Lys363AsnfsX37,del / Glu280Lys	1	4.17
21	c.47_48delCT, p.Ser16XfsX1,del / Asp415Asn	1	4.17
22	c.47_48delCT, p.Ser16XfsX1,del / IVS10-11G>A	1	4.17
23	c.592_613del22, p.Tyr198SerfsX136, del / Arg261Gln	1	4.17
	Total:	24

patients included from: Hamilton et al

	Genotype	Patients	Frequency in %
1	Val388Met / Val388Met	4	6.35
2	Ex5del / Ex5del	3	4.76
3	IVS10-11G>A / Ex5del	3	4.76
4	IVS10-11G>A / IVS8-7A>G	3	4.76
5	Val388Met / Glu280Lys	3	4.76
6	Arg243Gln / Glu280Lys	2	3.17
7	Arg252Trp / Ex5del	2	3.17
8	Arg261Gln / Val388Met	2	3.17
9	IVS10-11G>A / IVS10-11G>A	2	3.17	landscape
10	IVS10-11G>A / Val388Met	2	3.17
11	IVS10-3C>T / Val388Met	2	3.17
12	IVS4 + 5G>T / Val388Met	2	3.17
13	IVS8-7A>G / Ex5del	2	3.17
14	IVS8-7A>G / Ser349Pro	2	3.17
15	Arg176Leu / Pro281Leu	1	1.59
16	Arg252Trp / IVS10-3C>T	1	1.59
17	Arg252Trp / Pro281Leu	1	1.59
18	Arg252Trp / Val388Met	1	1.59
19	Arg261Gln / Arg243Gln	1	1.59
20	Arg261Gln / Arg261Gln	1	1.59	landscape
21	Arg261Gln / Ex5del	1	1.59
22	Arg261Gln / Glu390Gly	1	1.59
23	Arg261Gln / Pro281Leu	1	1.59
24	Ex5del / IVS11+5G>A	1	1.59
25	Glu280Lys / IVS12+1G>A	1	1.59
26	Glu280Lys / N401_S439del	1	1.59
27	Glu390Gly / IVS2+5G>A	1	1.59
28	IVS10-11G>A / Arg158Gln	1	1.59
29	IVS10-11G>A / IVS10-3C>T	1	1.59
30	IVS10-11G>A / Pro275Arg	1	1.59
31	IVS10-3C>T / IVS4+5G>T	1	1.59
32	IVS10-3C>T / IVS7+1G>A	1	1.59
33	IVS4+5G>T / IVS10-11G>A	1	1.59
34	IVS6-7A>T / IVS6-7A>T	1	1.59
35	IVS8-7A>G / IVS7+1G>A	1	1.59
36	L249Ffs*92 / Val388Met	1	1.59
37	Pro275Arg / Ex5del	1	1.59
38	Pro275Arg / Pro275Arg	1	1.59
39	Pro281Leu / Ex5del	1	1.59
40	R111* / Thr278Asn	1	1.59
41	Thr278Asn / Val388Met	1	1.59
42	Tyr414Cys / Ex5del	1	1.59
43	Val388Met / Ex5del	1	1.59
	Total:	63

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

	Genotype	Patients	Frequency in %
1	Arg261Gln / Arg261Gln	3	3.41	landscape
2	IVS13-2G>A / IVS13-2G>A	3	3.41
3	S70del / S70del	3	3.41
4	Ala104Asp / Ala104Asp	2	2.27
5	Ala104Asp / IVS12-2A>C	2	2.27
6	Ala434Asp / Ala434Asp	2	2.27
7	Arg413Pro / Arg413Pro	2	2.27
8	Arg413Pro / R261*	2	2.27
9	IVS10-11G>A / Ala300Ser	2	2.27	landscape
10	IVS10-11G>A / IVS10-11G>A	2	2.27	landscape
11	Ala104Asp / Ala300Ser	1	1.14
12	Ala104Asp / Ala434Asp	1	1.14
13	Ala104Asp / Arg241His	1	1.14
14	Ala104Asp / Arg252Trp	1	1.14
15	Ala104Asp / Val230Ile	1	1.14
16	Ala300Ser / Glu390Gly	1	1.14
17	Ala434Asp / D435V	1	1.14
18	Arg158Gln / EX6-96A>G	1	1.14
19	Arg241His / R261*	1	1.14
20	Arg243Gln / D296G	1	1.14
21	Arg243Gln / Glu182Lys	1	1.14
22	Arg243Gln / IVS10-11G>A	1	1.14
23	Arg243Gln / IVS12-2A>C	1	1.14
24	Arg243Gln / IVS13-2G>A	1	1.14
25	Arg243Gln / Leu430Pro	1	1.14
26	Arg243Gln / Thr380Met	1	1.14
27	Arg408Trp / Arg408Trp	1	1.14	landscape
28	Arg408Trp / IVS11+1G>C	1	1.14
29	Arg408Trp / Pro119Ser	1	1.14
30	Arg413Pro / Ala104Asp	1	1.14
31	Arg413Pro / Arg243Gln	1	1.14
32	Arg413Pro / Glu280Lys	1	1.14
33	Arg413Pro / IVS13-2G>A	1	1.14
34	Arg413Pro / L11*	1	1.14
35	Arg413Pro / Val230Ile	1	1.14
36	Arg53His / Ala300Ser	1	1.14
37	Arg53His / Arg243Gln	1	1.14
38	Arg53His / Arg53His	1	1.14
39	Arg53His / L197*	1	1.14
40	EX6-96A>G / Ala259Val	1	1.14
41	EX6-96A>G / EX6-96A>G	1	1.14
42	G267L / G267L	1	1.14
43	Glu182Lys / IVS13-2G>A	1	1.14
44	Glu390Gly / K115>Hfs	1	1.14
45	Glu390Gly / V399V	1	1.14
46	IVS10-11G>A / Ala434Asp	1	1.14
47	IVS10-11G>A / E368K	1	1.14
48	IVS10-11G>A / IVS12-2A>C	1	1.14
49	IVS11+1G>C / IVS11+1G>C	1	1.14
50	IVS12-2A>C / P147L	1	1.14
51	IVS13-2G>A / Ala300Ser	1	1.14
52	IVS8-7A>G / IVS8-7A>G	1	1.14
53	Leu255Ser / Leu348Val	1	1.14
54	Leu348Val / Leu348Val	1	1.14
55	Leu48Ser / Leu48Ser	1	1.14	landscape
56	P147L / P147L	1	1.14
57	P89T / P89T	1	1.14
58	Phe161Ser / EX6-96A>G	1	1.14
59	Phe161Ser / Phe161Ser	1	1.14
60	Pro119Ser / Arg243Gln	1	1.14
61	Pro119Ser / Asp394His	1	1.14
62	R111* / Arg243Gln	1	1.14
63	R111* / IVS11+1G>C	1	1.14
64	R111* / R111*	1	1.14
65	R243* / IVS12-2A>C	1	1.14
66	R243* / Pro281Leu	1	1.14
67	R261* / R261*	1	1.14	landscape
68	Thr418Pro / Thr418Pro	1	1.14
69	V399V / Arg243Gln	1	1.14
70	V399V / IVS11+1G>C	1	1.14
71	Val230Ile / Arg408Gln	1	1.14
72	Val230Ile / E370G	1	1.14
73	Val230Ile / Thr418Pro	1	1.14
74	Y166* / Y166*	1	1.14
75	Y356* / Glu182Lys	1	1.14
	Total:	88

patients included from: Karacic et al

	Genotype	Patients	Frequency in %
1	Arg408Trp / Arg408Trp	15	19.48	landscape
2	Leu48Ser / Arg408Trp	8	10.39	landscape
3	Glu390Gly / Arg408Trp	6	7.79	landscape
4	Arg158Gln / Arg408Trp	5	6.49	landscape
5	Arg261Gln / Arg408Trp	5	6.49	landscape
6	Pro281Leu / Arg408Trp	5	6.49	landscape
7	IVS12+1G>A / Arg408Trp	4	5.19	landscape
8	Leu48Ser / Arg158Gln	4	5.19	landscape
9	Leu48Ser / Arg261Gln	4	5.19	landscape
10	Pro281Leu / Glu390Gly	3	3.90
11	K363>Nfs / Arg261Gln	2	2.60
12	Leu249Pro / Leu249Pro	2	2.60
13	Leu48Ser / Leu48Ser	2	2.60	landscape
14	Arg408Trp / F39del	1	1.30
15	Arg408Trp / V245A+p.R241C c.734T>C+c.721C>T	1	1.30
16	Glu390Gly / F55Lfs	1	1.30
17	Glu390Gly / Leu249Pro	1	1.30
18	I306A / Arg111Term	1	1.30
19	I306A / Arg261Term	1	1.30
20	I306A / Arg408Trp	1	1.30
21	Leu249Pro / Arg158Gln	1	1.30
22	Leu249Pro / Arg408Trp	1	1.30
23	Leu249Pro / Pro281Leu	1	1.30
24	Leu48Ser / IVS4+5G>T	1	1.30
25	Leu48Ser / Pro281Leu	1	1.30
	Total:	77

patients included from: Georgiou et al

	Genotype	Patients	Frequency in %
1	Ser70Pro / Arg241His	2	16.67
2	c.168+5G>C / R395G	2	16.67
3	Arg158Gln / Ala300Ser	1	8.33
4	F55fs / Ala403Val	1	8.33
5	Pro225Thr / Glu178Gly	1	8.33
6	c.1066-11G>C / Ala403Val	1	8.33
7	c.1066-11G>C / R395G	1	8.33
8	c.168+5G>C / Glu178Gly	1	8.33
9	ex3 del / Asp222Gly	1	8.33
10	ex3 del / R395G	1	8.33
	Total:	12

patients included from: Reblova et al

	Genotype	Patients	Frequency in %
1	Ala300Ser / Arg408Trp	2	4.35	landscape
2	Ala403Val / Arg408Trp	2	4.35	landscape
3	Arg158Gln / Pro281Leu	2	4.35
4	Arg408Trp / Gly272Term	2	4.35
5	Asp129Gly / Arg408Trp	2	4.35
6	F55Lfs*6 / Arg408Trp	2	4.35
7	Ile306Val / Arg158Gln	2	4.35
8	Ile65Thr / Arg408Trp	2	4.35
9	Val190Ala / Arg270Lys	2	4.35
10	Ala403Val / ex5 del4232ins268	1	2.17
11	Arg158Gln / Arg158Gln	1	2.17
12	Arg158Gln / Arg408Trp	1	2.17	landscape
13	Arg408Trp / Arg243Term	1	2.17
14	Arg408Trp / Arg408Trp	1	2.17	landscape
15	Arg408Trp / IVS10-11G>A	1	2.17	landscape
16	Arg408Trp / T186Hfs*9	1	2.17
17	Arg408Trp / c.1066-3C>T	1	2.17
18	Arg408Trp / c.1315+1G>A	1	2.17
19	Arg408Trp / ex 3 del 4765	1	2.17
20	Arg408Trp / ex 3 del 955	1	2.17
21	F39del / ex5 del4232ins268	1	2.17
22	Glu390Gly / Arg408Trp	1	2.17	landscape
23	Ile283Phe / Arg408Trp	1	2.17	landscape
24	Ile306Val / Arg408Trp	1	2.17	landscape
25	Ile306Val / Gly272Term	1	2.17
26	Ile65Thr / Arg261Gln	1	2.17
27	Leu308Phe / Arg252Trp	1	2.17
28	Leu308Phe / Pro281Leu	1	2.17
29	Leu48Ser / Arg158Gln	1	2.17	landscape
30	Leu48Ser / c.1315+1G>A	1	2.17
31	Lys396Arg / Arg408Trp	1	2.17
32	Phe39Leu / Arg408Trp	1	2.17
33	Pro281Leu / ex5 del4232ins268	1	2.17
34	Tyr387His / Ala395Pro	1	2.17
35	Tyr414Cys / F263S	1	2.17
36	Tyr414Cys / IVS10-11G>A	1	2.17
37	Tyr414Cys / Tyr414Cys	1	2.17
	Total:	46

patients included from: Bayat et al.

	Genotype	Patients	Frequency in %
1	IVS12+1G>A / Arg408Trp	31	8.24	landscape
2	IVS12+1G>A / Tyr414Cys	28	7.45	landscape
3	IVS12+1G>A / IVS12+1G>A	21	5.59
4	Arg408Trp / Arg408Trp	19	5.05	landscape
5	Arg408Trp / Tyr414Cys	13	3.46	landscape
6	IVS12+1G>A / IVS10-11G>A	9	2.39
7	Arg408Trp / IVS10-11G>A	7	1.86	landscape
8	IVS12+1G>A / Arg158Gln	6	1.60
9	IVS12+1G>A / Ala104Asp	5	1.33
10	IVS12+1G>A / Glu280Lys	5	1.33
11	Tyr414Cys / Tyr414Cys	5	1.33
12	Arg408Trp / Asp415Asn	4	1.06
13	IVS12+1G>A / Asp415Asn	4	1.06	landscape
14	IVS12+1G>A / Gly46Ser	4	1.06
15	IVS12+1G>A / Ile306Val	4	1.06
16	IVS12+1G>A / Tyr356Term	4	1.06
17	IVS12+1G>A / Val245Ala	4	1.06
18	Ala300Ser / Ala403Val	3	0.80
19	Arg408Trp / Undetected	3	0.80
20	IVS10-11G>A / Tyr386Cys	3	0.80
21	IVS12+1G>A / Arg261Gln	3	0.80
22	IVS12+1G>A / Arg68Ser	3	0.80	landscape
23	IVS12+1G>A / E221D222delAG	3	0.80
24	IVS12+1G>A / Leu348Val	3	0.80
25	Pro281Leu / Tyr414Cys	3	0.80
26	Arg158Gln / Asp282Asn	2	0.53
27	Arg158Gln / IVS10-11G>A	2	0.53
28	Arg158Gln / Phe39Leu	2	0.53
29	Arg408Gln / Ala300Ser	2	0.53
30	Arg408Trp / Ala104Asp	2	0.53
31	Arg408Trp / Arg261Gln	2	0.53	landscape
32	Arg408Trp / Glu390Gly	2	0.53	landscape
33	Arg408Trp / Gly272Term	2	0.53
34	Arg408Trp / Val245Ala	2	0.53	landscape
35	E221D222delAG / Arg408Gln	2	0.53
36	Glu280Lys / Arg408Trp	2	0.53
37	Gly46Ser / Tyr414Cys	2	0.53
38	IVS10-11G>A / IVS10-11G>A	2	0.53	landscape
39	IVS10-11G>A / Tyr414Cys	2	0.53
40	IVS12+1G>A / Asp282Asn	2	0.53
41	IVS12+1G>A / Ile174Thr	2	0.53
42	IVS12+1G>A / Ile65Thr	2	0.53	landscape
43	IVS12+1G>A / Phe39Leu	2	0.53
44	IVS12+1G>A / T63P-H64N	2	0.53
45	IVS12+1G>A / Undetected	2	0.53
46	IVS7+4A>G / Tyr414Cys	2	0.53
47	Ile306Val / Tyr414Cys	2	0.53
48	Phe39Leu / Ile306Val	2	0.53
49	Q261R / Glu182Gly	2	0.53
50	Ser349Ala / Ser349Ala	2	0.53
51	Tyr414Cys / Arg68Ser	2	0.53
52	Tyr414Cys / Glu390Gly	2	0.53
53	Tyr414Cys / IVS10+3A>G	2	0.53
54	Ala104Asp / Tyr414Cys	1	0.27
55	Ala300Ser / Undetected	1	0.27
56	Ala395Gly / Ala403Val	1	0.27
57	Ala403Val / Ala403Val	1	0.27
58	Arg111Term / Pro281Leu	1	0.27
59	Arg158Gln / Ala104Asp	1	0.27
60	Arg158Gln / Asp415Asn	1	0.27
61	Arg158Gln / P244S	1	0.27
62	Arg158Gln / delF39	1	0.27
63	Arg158Trp / Tyr386Cys	1	0.27
64	Arg243Gln / Ala403Val	1	0.27
65	Arg243Term / Arg243Term	1	0.27
66	Arg243Term / Leu48Ser	1	0.27
67	Arg243Term / Val245Glu	1	0.27
68	Arg252Trp / Arg252Trp	1	0.27	landscape
69	Arg261Gln / Ala403Val	1	0.27
70	Arg261Gln / Glu390Gly	1	0.27
71	Arg261Gln / Ile174Thr	1	0.27
72	Arg261Term / Ile306Val	1	0.27
73	Arg408Gln / Val230Ile	1	0.27
74	Arg408Trp / Ala322Thr	1	0.27
75	Arg408Trp / Ala403Val	1	0.27	landscape
76	Arg408Trp / Arg158Gln	1	0.27	landscape
77	Arg408Trp / Arg176Leu	1	0.27
78	Arg408Trp / Arg241His	1	0.27	landscape
79	Arg408Trp / Asp129Tyr	1	0.27
80	Arg408Trp / E221D222delAG	1	0.27
81	Arg408Trp / Ile65Thr	1	0.27
82	Arg408Trp / Leu348Val	1	0.27	landscape
83	Arg408Trp / S403V	1	0.27
84	Arg408Trp / Ser349Pro	1	0.27
85	Arg408Trp / Ser349Term	1	0.27
86	Arg408Trp / Ser87Arg	1	0.27
87	Arg408Trp / Val177Leu	1	0.27
88	Arg408Trp / c.1315+1G>A	1	0.27
89	Arg408Trp / c.284_286delTCA	1	0.27
90	Asp282Asn / Asp282Asn	1	0.27
91	Asp282Asn / E221D222delAG	1	0.27
92	Asp282Asn / Tyr414Cys	1	0.27
93	Asp282Asn / Undetected	1	0.27
94	E221D222delAG / Glu280Lys	1	0.27
95	E221D222fsdelG / Tyr414Cys	1	0.27
96	Glu178Gly / V245M	1	0.27
97	Glu280Lys / Pro281Leu	1	0.27
98	Glu390Gly / Ala403Val	1	0.27
99	Gly218Val / IVS10-11G>A	1	0.27
100	Gly272Term / Asp282Asn	1	0.27
101	Gly272Term / Asp415Asn	1	0.27
102	Gly272Term / Gly46Ser	1	0.27
103	Gly272Term / Val177Leu	1	0.27
104	IVS1+5G>T / Ala104Asp	1	0.27
105	IVS1+5G>T / Ala322Thr	1	0.27
106	IVS1+5G>T / Arg261Gln	1	0.27
107	IVS1+5G>T / Arg408Trp	1	0.27
108	IVS1+5G>T / Asp415Asn	1	0.27
109	IVS10-11G>A / Ala104Asp	1	0.27
110	IVS10-11G>A / Asp145Val	1	0.27
111	IVS10-11G>A / Glu390Gly	1	0.27
112	IVS10-11G>A / IVS7+1G>A	1	0.27
113	IVS10-11G>A / Leu348Val	1	0.27
114	IVS10-11G>A / Thr380Met	1	0.27
115	IVS10-11G>A / Undetected	1	0.27
116	IVS10-11G>A / c.1-?_168+?del	1	0.27
117	IVS12+1G>A / Ala300Ser	1	0.27
118	IVS12+1G>A / Ala342Thr	1	0.27
119	IVS12+1G>A / Ala395Pro	1	0.27
120	IVS12+1G>A / Ala47Val	1	0.27
121	IVS12+1G>A / Arg111Term	1	0.27
122	IVS12+1G>A / Arg252Trp	1	0.27
123	IVS12+1G>A / F410I	1	0.27
124	IVS12+1G>A / G346fsdelG	1	0.27
125	IVS12+1G>A / Glu390Gly	1	0.27
126	IVS12+1G>A / Gly272Term	1	0.27
127	IVS12+1G>A / IVS1+5G>T	1	0.27
128	IVS12+1G>A / IVS11+4A>G	1	0.27
129	IVS12+1G>A / IVS7+1G>A	1	0.27
130	IVS12+1G>A / K363fsdelG	1	0.27
131	IVS12+1G>A / Leu308Val	1	0.27
132	IVS12+1G>A / Leu48Ser	1	0.27
133	IVS12+1G>A / Pro281Leu	1	0.27
134	IVS12+1G>A / Thr380Met	1	0.27
135	IVS12+1G>A / Val388Met	1	0.27
136	IVS2-13T>G / IVS2-13T>G	1	0.27
137	IVS7+1G>A / Arg408Trp	1	0.27
138	IVS9+5G>A / Ala300Ser	1	0.27
139	Ile224Thr / Ile224Thr	1	0.27
140	Ile283Phe / Asp415Asn	1	0.27
141	Ile306Val / Ile306Val	1	0.27
142	Ile65Thr / Gln336Term	1	0.27
143	Leu333Phe / Ser110Leu	1	0.27
144	Leu348Val / Leu348Val	1	0.27
145	Leu348Val / Thr380Met	1	0.27
146	Leu348Val / Tyr414Cys	1	0.27
147	Leu48Ser / Ala300Ser	1	0.27
148	Leu98Ser / Leu98Ser	1	0.27
149	Phe39Leu / Asp415Asn	1	0.27
150	Phe39Leu / Phe39Leu	1	0.27
151	Phe39Leu / Ser87Arg	1	0.27
152	Phe39Leu / Tyr414Cys	1	0.27
153	Phe410Ser / Ile306Val	1	0.27
154	Pro281Leu / Ala104Asp	1	0.27
155	Pro281Leu / Arg243Term	1	0.27
156	Pro281Leu / IVS8-7A>G	1	0.27
157	Pro281Leu / Pro281Leu	1	0.27	landscape
158	S16fs*2 / Leu48Ser	1	0.27
159	T266E / Arg408Trp	1	0.27
160	Thr124Ile / Leu348Val	1	0.27
161	Thr380Met / Thr380Met	1	0.27
162	Trp120Term / Tyr414Cys	1	0.27
163	Tyr356Term / Asp415Asn	1	0.27
164	Tyr356Term / Tyr414Cys	1	0.27
165	Tyr414Cys / A309T	1	0.27
166	Tyr414Cys / Ala403Val	1	0.27
167	Tyr414Cys / Undetected	1	0.27
168	Tyr414Cys / Val245Ala	1	0.27
169	Val177Leu / Val177Leu	1	0.27
170	Val230Ile / IVS4+5G>T	1	0.27
171	Val230Ile / Tyr414Cys	1	0.27
172	Val245Glu / T63P-H64N	1	0.27
173	c.1241A>G / c.1241A>G	1	0.27
174	c.1315+1G>A / Ala403Val	1	0.27
175	c.1315+1G>A / R158G	1	0.27
176	delF39del / E178K	1	0.27
	Total:	376

patients included from: Lillevali et al

	Genotype	Patients	Frequency in %
1	Arg408Trp / Arg408Trp	58	61.70	landscape
2	Arg408Trp / Arg252Trp	4	4.26	landscape
3	Arg408Trp / Arg261Gln	4	4.26	landscape
4	Arg408Trp / Leu48Ser	4	4.26	landscape
5	Arg408Trp / IVS12+1G>A	3	3.19	landscape
6	Arg408Trp / Ala300Ser	2	2.13	landscape
7	Arg408Trp / D222*	2	2.13
8	Arg408Trp / Glu280Lys	2	2.13
9	Arg408Trp / Ile306Val	2	2.13	landscape
10	Arg408Trp / Pro281Leu	2	2.13	landscape
11	Arg408Trp / noDNA	2	2.13
12	noDNA / noDNA	2	2.13
13	Arg158Gln / IVS12+1G>A	1	1.06
14	Arg408Trp / Ala403Val	1	1.06	landscape
15	Arg408Trp / Glu390Gly	1	1.06	landscape
16	Arg408Trp / Ile65Thr	1	1.06
17	Arg408Trp / Q355_T356insGLQ / IVS10-11G>A	1	1.06
18	Arg408Trp / Ser349Pro	1	1.06
19	Leu48Ser / Glu280Lys	1	1.06
	Total:	94

patients included from: own data

	Genotype	Patients	Frequency in %
1	IVS10-11G>A / IVS10-11G>A	9	9.28	landscape
2	Arg408Trp / Arg408Trp	8	8.25	landscape
3	Ile65Thr / IVS10-11G>A	8	8.25	landscape
4	Arg261Gln / Arg261Gln	7	7.22	landscape
5	Arg261Gln / IVS10-11G>A	7	7.22	landscape
6	Tyr414Cys / c.1315+1G>A	7	7.22
7	Arg261Gln / Arg408Trp	6	6.19	landscape
8	Ala403Val / Arg408Trp	5	5.15	landscape
9	Arg158Gln / IVS10-11G>A	5	5.15
10	Arg261Gln / c.1315+1G>A	5	5.15
11	Arg408Trp / Tyr414Cys	5	5.15	landscape
12	Ile65Thr / Ala403Val	5	5.15
13	Arg408Trp / c.1315+1G>A	4	4.12
14	G352VfsX48 / IVS10-11G>A	4	4.12
15	Ile65Thr / Arg158Gln	4	4.12
16	Ile65Thr / Arg261Gln	4	4.12
17	Leu48Ser / Leu48Ser	4	4.12	landscape
	Total:	97

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

	Genotype	Patients	Frequency in %
1	Arg408Trp / Arg408Trp	23	4.66	landscape
2	Arg158Gln / Arg408Trp	15	3.04	landscape
3	Arg408Trp / Tyr414Cys	15	3.04	landscape
4	Arg408Trp / IVS12+1G>A	14	2.83	landscape
5	IVS10-11G>A / IVS10-11G>A	12	2.43	landscape
6	Arg408Trp / Arg261Gln	10	2.02	landscape
7	Arg408Trp / Arg243Term	8	1.62
8	Arg408Trp / IVS10-11G>A	8	1.62	landscape
9	IVS12+1G>A / Tyr414Cys	8	1.62	landscape
10	Arg261Gln / Arg261Gln	6	1.21	landscape
11	Arg408Trp / Ala403Val	6	1.21	landscape
12	Pro281Leu / Arg408Trp	6	1.21	landscape
13	Ala403Val / IVS12nt1G>A	5	1.01
14	Arg158Gln / Arg158Gln	5	1.01
15	Arg261Gln / IVS10-11G>A	5	1.01	landscape
16	Arg408Trp / Leu48Ser	5	1.01	landscape
17	Arg408Trp / Val245Ala	5	1.01	landscape
18	Arg261Gln / Arg243Gln	4	0.81
19	Arg408Trp / Asn61Asp	4	0.81
20	Arg408Trp / IVS12nt1G>A	4	0.81
21	Pro281Leu / Pro281Leu	4	0.81	landscape
22	Tyr414Cys / Arg261Gln	4	0.81
23	Ala403Val / IVS10-11G>A	3	0.61
24	Arg408Trp / Thr380Met	3	0.61
25	IVS10-11G>A / IVS12+1G>A	3	0.61
26	IVS10-11G>A / Leu48Ser	3	0.61	landscape
27	IVS12+1G>A / Arg261Gln	3	0.61
28	IVS12+1G>A / IVS12+1G>A	3	0.61
29	IVS12nt1G>A / Arg261Gln	3	0.61
30	IVS12nt1G>A / R242X	3	0.61
31	Ile65Thr / Arg158Gln	3	0.61
32	Leu48Ser / Pro281Leu	3	0.61
33	Tyr414Cys / IVS12nt1G>A	3	0.61
34	Tyr414Cys / Pro281Leu	3	0.61
35	Tyr414Cys / Tyr414Cys	3	0.61
36	Ala300Ser / Arg261Term	2	0.40
37	Ala395Gly / IVS10-11G>A	2	0.40
38	Ala403Val / IVS4+5G>T	2	0.40
39	Arg158Gln / IVS10-11G>A	2	0.40
40	Arg158Gln / Val177Leu	2	0.40
41	Arg158Gln / Val245Ala	2	0.40
42	Arg243Gln / IVS12+1G>A	2	0.40	landscape
43	Arg261Gln / Ala300Ser	2	0.40
44	Arg261Gln / Glu390Gly	2	0.40
45	Arg408Trp / 822-832del	2	0.40
46	Arg408Trp / Arg176Term	2	0.40
47	Arg408Trp / Arg243Gln	2	0.40
48	Arg408Trp / Glu390Gly	2	0.40	landscape
49	Arg408Trp / Val177Met	2	0.40
50	Glu390Gly / I.7+1G>A	2	0.40
51	I.2+5G>C / Arg408Trp	2	0.40
52	IVS10-11G>A / Arg243Term	2	0.40
53	IVS12+1G>A / 663-64delAG	2	0.40
54	IVS12+1G>A / Arg243Term	2	0.40
55	IVS12+1G>A / Leu48Ser	2	0.40
56	IVS12nt1G>A / Arg158Gln	2	0.40
57	IVS12nt1G>A / Gly272Term	2	0.40
58	IVS12nt1G>A / IVS2nt5G>C	2	0.40
59	IVS8+1G>A / IVS8+1G>A	2	0.40
60	Ile306Val / Arg408Trp	2	0.40	landscape
61	Ile65Val / IVS12nt1G>A	2	0.40
62	Leu48Ser / Arg241His	2	0.40
63	Leu48Ser / Leu48Ser	2	0.40	landscape
64	Pro281Leu / Asp84Tyr	2	0.40
65	Tyr414Cys / Ala403Val	2	0.40
66	Tyr414Cys / Arg243Term	2	0.40
67	Tyr414Cys / G271X	2	0.40
68	Tyr414Cys / Glu390Gly	2	0.40
69	Tyr414Cys / Thr380Met	2	0.40	landscape
70	Tyr417His / Tyr417His	2	0.40
71	Val230Ile / Val230Ile	2	0.40
72	1024delG / IVS12+1G>A	1	0.20
73	1055delG / Ala104Asp	1	0.20
74	1055delG / I.1+5G>T	1	0.20
75	165delT / Arg68Ser	1	0.20
76	165delT / I.10-1G>A	1	0.20
77	47-48delCT / 47-48delCT	1	0.20
78	558delA / Ala104Asp	1	0.20
79	822-832del / Arg241His	1	0.20
80	822-832del / Arg261Gln	1	0.20
81	929-39del / IVS12+1G>A	1	0.20
82	? 1194A>G / Arg408Trp	1	0.20
83	Ala104Asp / Leu194Pro	1	0.20
84	Ala104Asp / Pro281Leu	1	0.20
85	Ala104Asp / Val245Ala	1	0.20
86	Ala246Val / Arg408Trp	1	0.20
87	Ala300Ser / Ala300Ser	1	0.20
88	Ala300Ser / Ala403Val	1	0.20
89	Ala300Ser / Arg243Term	1	0.20
90	Ala300Ser / I.12+1	1	0.20
91	Ala300Ser / I65S/H170Q	1	0.20
92	Ala300Ser / IVS4-5C>G	1	0.20
93	Ala300Ser / K274fsdel11bp	1	0.20
94	Ala300Ser / Phe55Leu	1	0.20
95	Ala300Ser / Pro281Leu	1	0.20	landscape
96	Ala300Ser / Pro366His	1	0.20
97	Ala300Ser / Val230Ile	1	0.20
98	Ala300Ser / delA184	1	0.20
99	Ala395Pro / Arg408Trp	1	0.20
100	Ala395Pro / Tyr204Term	1	0.20
101	Ala403Val / Ala403Val	1	0.20
102	Ala403Val / Arg158Gln	1	0.20
103	Ala403Val / Arg243Term	1	0.20
104	Ala403Val / Arg252Trp	1	0.20
105	Ala403Val / Arg261Gln	1	0.20
106	Ala403Val / Gln355Term	1	0.20
107	Ala403Val / Glu390Gly	1	0.20
108	Ala403Val / Ile174Val	1	0.20
109	Ala403Val / Pro281Leu	1	0.20
110	Ala403Val / Thr380Met	1	0.20
111	Arg158Gln / Ala104Asp	1	0.20
112	Arg158Gln / Arg241Cys	1	0.20
113	Arg158Gln / Arg261Gln	1	0.20
114	Arg158Gln / Glu390Gly	1	0.20
115	Arg158Gln / Gly272Term	1	0.20
116	Arg158Gln / I.1+5G>T	1	0.20
117	Arg158Gln / IVS12+1G>A	1	0.20
118	Arg158Trp / Arg408Trp	1	0.20
119	Arg158Trp / Tyr414Cys	1	0.20
120	Arg176Term / Glu390Gly	1	0.20
121	Arg176Term / Tyr414Cys	1	0.20
122	Arg176Term / Val245Ala	1	0.20
123	Arg252Gln / Arg408Trp	1	0.20
124	Arg261Gln / Ala104Asp	1	0.20
125	Arg261Gln / Arg243Term	1	0.20
126	Arg261Gln / Asn61Asp	1	0.20
127	Arg261Gln / Gly272Term	1	0.20
128	Arg261Gln / Ile65Val	1	0.20
129	Arg261Gln / K274_Y277>Nfs	1	0.20
130	Arg261Gln / Pro281Leu	1	0.20
131	Arg261Gln / Tyr166Term	1	0.20
132	Arg261Gln / Val245Ala	1	0.20
133	Arg261Pro / F39del	1	0.20
134	Arg261Term / Arg408Trp	1	0.20
135	Arg297His / Arg158Gln	1	0.20
136	Arg408Gln / Pro281Leu	1	0.20
137	Arg408Trp / Arg169His	1	0.20
138	Arg408Trp / Arg68Ser	1	0.20
139	Arg408Trp / Asp394His	1	0.20
140	Arg408Trp / Asp415Asn	1	0.20
141	Arg408Trp / F39delTCT	1	0.20
142	Arg408Trp / G103D	1	0.20
143	Arg408Trp / Glu178Gly	1	0.20
144	Arg408Trp / Gly148Ser	1	0.20
145	Arg408Trp / Gly272Term	1	0.20
146	Arg408Trp / Gly352Arg	1	0.20
147	Arg408Trp / I.10+3A>C	1	0.20
148	Arg408Trp / IVS11-9G>A	1	0.20
149	Arg408Trp / IVS4-5C>G	1	0.20
150	Arg408Trp / IVS7nt+1G>A	1	0.20
151	Arg408Trp / IVS8nt+1G>A	1	0.20
152	Arg408Trp / Ile65Thr	1	0.20
153	Arg408Trp / Ile94Ser	1	0.20
154	Arg408Trp / K274fsdel11bp	1	0.20
155	Arg408Trp / Leu348Val	1	0.20	landscape
156	Arg408Trp / Phe327Leu	1	0.20
157	Arg408Trp / Phe39Leu	1	0.20
158	Arg408Trp / Phe410Ser	1	0.20
159	Arg408Trp / Phe55Leu	1	0.20
160	Arg408Trp / Pro281Arg	1	0.20
161	Arg408Trp / Pro281Ser	1	0.20
162	Arg408Trp / Pro314Ser	1	0.20
163	Arg408Trp / Ser87Arg	1	0.20
164	Arg408Trp / Tyr356Term	1	0.20
165	Arg408Trp / Val190Ala	1	0.20
166	Arg408Trp / Val230Ile	1	0.20
167	Arg408Trp / Val388Met	1	0.20	landscape
168	Arg408Trp / Y177M	1	0.20
169	Arg408Trp / delF39115-117	1	0.20
170	Arg408Trp / ex6 del	1	0.20
171	Arg68Ser / I.2+5G>C	1	0.20
172	Asp145Val / Tyr414Cys	1	0.20
173	Asp415Asn / Asp415Asn	1	0.20
174	Asp415Asn / Glu178Gly	1	0.20
175	Asp415Asn / Phe39Leu	1	0.20
176	Asp84Tyr / Arg158Gln	1	0.20
177	Gln20Term / Gln20Term	1	0.20
178	Glu390Gly / ? Del.X11	1	0.20
179	Glu390Gly / Gly272Term	1	0.20
180	Glu390Gly / I.12+1	1	0.20
181	Glu390Gly / Pro281Leu	1	0.20
182	Gly239Val / Gly46Ser	1	0.20
183	Gly272Term / Asn167Ile	1	0.20
184	Gly272Term / Glu178Gly	1	0.20
185	Gly344Ser / IVS10-11G>A	1	0.20
186	His285Tyr / Arg408Trp	1	0.20
187	I.10-1G>A / Glu390Gly	1	0.20
188	I.10-3C>T / 47-48delCT	1	0.20
189	I.2+5G>C / Gly272Term	1	0.20
190	I.2-13T>G / I.2-13T>G	1	0.20
191	I.5+1G>A / Ala395Pro	1	0.20
192	I.7+1G>A / Arg408Trp	1	0.20
193	I.8+1G>A / Gly346Arg	1	0.20
194	I94del / Pro281Leu	1	0.20
195	I94del / Tyr414Cys	1	0.20
196	IVS10-11G>A / 165delT	1	0.20
197	IVS10-11G>A / Ala104Asp	1	0.20
198	IVS10-11G>A / Leu311Pro	1	0.20
199	IVS10-11G>A / Val245Ala	1	0.20
200	IVS12+1G>A / Ala403Val	1	0.20
201	IVS12+1G>A / Arg241Cys	1	0.20
202	IVS12+1G>A / E221_D222>Efs	1	0.20
203	IVS12+1G>A / F39del	1	0.20
204	IVS12+1G>A / Gly352Arg	1	0.20
205	IVS12+1G>A / I.8-7A>G	1	0.20
206	IVS12+1G>A / I94del	1	0.20
207	IVS12+1G>A / Ser87Arg	1	0.20
208	IVS12+1G>A / Tyr204Term	1	0.20
209	IVS12nt1G>A / A389P	1	0.20
210	IVS12nt1G>A / Asp415Asn	1	0.20
211	IVS12nt1G>A / Glu390Gly	1	0.20
212	IVS12nt1G>A / Gly148Ser	1	0.20
213	IVS12nt1G>A / Gly239Val	1	0.20
214	IVS12nt1G>A / IVS12nt1G>A	1	0.20
215	IVS12nt1G>A / IVS13+19G>T	1	0.20
216	IVS12nt1G>A / IVS4-5C>G	1	0.20
217	IVS12nt1G>A / IVS8-7A>G	1	0.20
218	IVS12nt1G>A / Leu348Val	1	0.20
219	IVS12nt1G>A / Leu48Ser	1	0.20
220	IVS12nt1G>A / Phe39Leu	1	0.20
221	IVS12nt1G>A / Pro281Leu	1	0.20
222	IVS12nt1G>A / Val230Ile	1	0.20
223	IVS12nt1G>A / Val245Ala	1	0.20
224	IVS12nt1G>A / del ex6	1	0.20
225	IVS2-13T>G / IVS2-13T>G	1	0.20
226	IVS7+1>a / Arg243Term	1	0.20
227	Ile269Asn / IVS12+1G>A	1	0.20
228	Ile306Val / D59V	1	0.20
229	Ile306Val / I.12+1	1	0.20
230	Ile65Thr / Pro281Leu	1	0.20
231	Ile65Thr / Tyr414Cys	1	0.20
232	Ile65Val / I.12+1	1	0.20
233	L15delCT / L15delCT	1	0.20
234	Leu311Pro / I.7+5G>A	1	0.20
235	Leu348Val / Arg243Gln	1	0.20
236	Leu348Val / IVS10-11G>A	1	0.20
237	Leu48Ser / Arg158Gln	1	0.20	landscape
238	Leu48Ser / Arg261Gln	1	0.20	landscape
239	Leu48Ser / Pro275Arg	1	0.20
240	Lys320Asn / I.8-7G	1	0.20
241	Lys341Term / Ala403Val	1	0.20
242	Phe299Cys / Arg408Trp	1	0.20
243	Phe39Leu / Arg252Trp	1	0.20
244	Phe39Leu / Arg261Gln	1	0.20
245	Phe39Leu / Phe299Cys	1	0.20
246	Pro211Thr / Leu48Ser	1	0.20
247	Pro225Arg / Arg252Trp	1	0.20
248	Pro281Leu / Arg261Term	1	0.20
249	Pro281Leu / IVS10-11G>A	1	0.20	landscape
250	Pro281Leu / IVS12+1G>A	1	0.20
251	Pro281Leu / Leu348Val	1	0.20
252	Pro281Leu / Phe299Cys	1	0.20
253	Pro281Leu / Val245Ala	1	0.20
254	Pro366His / I.10-11	1	0.20
255	Ser231Pro / Ser231Pro	1	0.20
256	Ser295Term / Tyr414Cys	1	0.20
257	Ser349Pro / Leu348Val	1	0.20
258	Thr380Met / Glu280Lys	1	0.20
259	Trp187Term / 1355^56insA	1	0.20
260	Trp187Term / Arg261Term	1	0.20
261	Tyr166Term / Arg408Trp	1	0.20
262	Tyr204Term / Arg252Gly	1	0.20
263	Tyr414Cys / Arg158Gln	1	0.20	landscape
264	Tyr414Cys / Arg243Gln	1	0.20
265	Tyr414Cys / Asp415Asn	1	0.20
266	Tyr414Cys / F39delT115	1	0.20
267	Tyr414Cys / Gly272Term	1	0.20
268	Tyr414Cys / I.12+1	1	0.20
269	Tyr414Cys / IVS10-11G>A	1	0.20
270	Tyr414Cys / Leu48Ser	1	0.20	landscape
271	Tyr414Cys / N167Y	1	0.20
272	Tyr414Cys / Pro275Leu	1	0.20
273	Tyr414Cys / S16delCT	1	0.20
274	Tyr414Cys / Val245Ala	1	0.20
275	Val177Leu / Arg408Trp	1	0.20
276	Val230Ile / Glu390Gly	1	0.20
277	Y356Stop / V329A	1	0.20
278	delF55 / dL94delc.280-282ATC	1	0.20
	Total:	494

patients included from: Zare-Karizi et alBiglari et al

	Genotype	Patients	Frequency in %
1	IVS10-11G>A / IVS10-11G>A	25	17.36	landscape
2	Arg261Gln / Arg261Gln	14	9.72	landscape
3	Pro281Leu / Pro281Leu	13	9.03	landscape
4	IVS11+1 / IVS11+1	9	6.25
5	K363Nfs / K363Nfs	9	6.25
6	Arg243Term / Arg243Term	8	5.56
7	Arg261Term / Arg261Term	8	5.56
8	Arg176Term / Arg176Term	6	4.17
9	IVS2+5 / IVS2+5	6	4.17
10	Arg252Trp / Arg252Trp	4	2.78	landscape
11	IVS10-11G>A / IVS2+5	3	2.08
12	Tyr179His / Tyr179His	3	2.08
13	Arg261Gln / Arg252Trp	2	1.39
14	Glu280Lys / Glu280Lys	2	1.39
15	Gly247Asp / Gly247Asp	2	1.39
16	IVS10 / Arg261Gln	2	1.39	landscape
17	IVS10-11G>A / Arg252Trp	2	1.39
18	IVS10-11G>A / IVS11+1	2	1.39
19	Arg243Gln / C357R	1	0.69
20	Arg243Gln / IVS2+5	1	0.69
21	Arg243Term / His201Gln	1	0.69
22	Arg252Gln / Arg252Gln	1	0.69
23	Arg261Gln / Ala300Ser	1	0.69
24	Arg261Gln / Arg261Term	1	0.69
25	Arg408Trp / IVS10-11G>A	1	0.69	landscape
26	IVS10-11G>A / IVS9+5	1	0.69
27	IVS11+1 / Pro281Leu	1	0.69
28	IVS2+5G>A / IVS2+5G>A	1	0.69
29	IVS2+5G>C / IVS2+5G>C	1	0.69
30	IVS4+5 / IVS4+5	1	0.69
31	IVS7+1 / IVS7+1	1	0.69
32	Ile283Asn / Ile283Asn	1	0.69
33	L364del / L364del	1	0.69
34	Leu194Arg / Leu194Arg	1	0.69
35	Leu333Phe / Leu333Phe	1	0.69
36	Leu48Ser / Arg261Gln	1	0.69	landscape
37	Leu48Ser / IVS2+5	1	0.69
38	Leu48Ser / Leu48Ser	1	0.69	landscape
39	P211>Hisfs / P211>Hisfs	1	0.69
40	Pro281Leu / Arg408Gln	1	0.69
41	Pro281Leu / IVS11+1G>C	1	0.69
42	Ser67Pro / Arg261Gln	1	0.69
	Total:	144

patients included from: Bercovich et al

	Genotype	Patients	Frequency in %
1	IVS10-11G>A / IVS10-11G>A	13	8.67	landscape
2	IVS2+1G>A / IVS2+1G>A	6	4.00
3	Leu48Ser / Leu48Ser	6	4.00	landscape
4	IVS10-11G>A / Ala300Ser	5	3.33	landscape
5	ex3 del / ex3 del	4	2.67
6	Ala300Ser / Ala403Val	3	2.00
7	Ala403Val / Ala403Val	3	2.00
8	Arg408Trp / Arg408Trp	3	2.00	landscape
9	F55fsX6 / Ala403Val	3	2.00
10	F55fsX6 / F55fsX6	3	2.00
11	IVS10-11G>A / Leu48Ser	3	2.00	landscape
12	IVS4+5G>T / IVS4+5G>T	3	2.00
13	Thr380Met / Ala403Val	3	2.00
14	Arg241His / Ala300Ser	2	1.33
15	Arg261Gln / Arg261Gln	2	1.33	landscape
16	Arg408Trp / Ala300Ser	2	1.33	landscape
17	Arg408Trp / Arg241His	2	1.33	landscape
18	IVS10-11G>A / Ala403Val	2	1.33
19	IVS10-11G>A / Arg408Trp	2	1.33	landscape
20	IVS4+5G>T / Ala395Gly	2	1.33
21	IVS4+5G>T / Arg261Gln	2	1.33
22	IVS4+5G>T / IVS10-11G>A	2	1.33
23	Leu197Phe / Leu197Phe	2	1.33
24	Leu48Ser / Glu178Gly	2	1.33
25	Leu48Ser / Thr380Met	2	1.33
26	Val230Ile / Val230Ile	2	1.33
27	Ala300Ser / Ala300Ser	1	0.67
28	Ala395Gly / Ala395Gly	1	0.67
29	Ala403Val / Arg169His	1	0.67
30	Ala403Val / Ile95Phe	1	0.67
31	Arg158Gln / Ile95Phe	1	0.67
32	Arg176Term / Leu48Ser	1	0.67
33	Arg241His / Arg241His	1	0.67
34	Arg241His / T323del	1	0.67
35	Arg243Term / Ala300Ser	1	0.67
36	Arg243Term / Arg261Gln	1	0.67
37	Arg261Gln / Ala403Val	1	0.67
38	Arg261Gln / Glu178Gly	1	0.67
39	Arg261Gln / Leu48Ser	1	0.67	landscape
40	Arg408Trp / Glu178Gly	1	0.67
41	Arg408Trp / Leu48Ser	1	0.67	landscape
42	D17fsX1 / Leu48Ser	1	0.67
43	F39>Sdel / Val230Ile	1	0.67
44	His271Gln / His271Gln	1	0.67
45	IVS10+1G>T / Leu48Ser	1	0.67
46	IVS10-11G>A / Arg252Trp	1	0.67
47	IVS10-11G>A / Arg261Gln	1	0.67	landscape
48	IVS10-11G>A / Asp415Asn	1	0.67
49	IVS10-11G>A / His271Gln	1	0.67
50	IVS10-11G>A / S436>Pfs	1	0.67
51	IVS10-11G>A / Ser349Pro	1	0.67
52	IVS10-11G>A / Val230Ile	1	0.67
53	IVS2+1G>A / Ala403Val	1	0.67
54	IVS2+1G>A / Arg261Gln	1	0.67
55	IVS2+1G>A / Leu197Phe	1	0.67
56	IVS2-2del / Ala403Val	1	0.67
57	IVS4+5G>T / Ala403Val	1	0.67
58	IVS4+5G>T / Arg158Gln	1	0.67
59	IVS4+5G>T / Arg408Trp	1	0.67
60	IVS4+5G>T / Ile174Val	1	0.67
61	IVS4+5G>T / P211>Hfs	1	0.67
62	IVS4+5G>T / Pro281Leu	1	0.67
63	IVS4-5C>G / Arg261Pro	1	0.67
64	IVS4-5C>G / Leu48Ser	1	0.67
65	Ile306Val / Phe55Leu	1	0.67
66	Ile95Phe / T323del	1	0.67
67	K363fsX37 / Arg408Trp	1	0.67
68	K363fsX37 / K363fsX37	1	0.67
69	Leu369Val / Thr380Met	1	0.67
70	Leu48Ser / Ala403Val	1	0.67
71	P211>Hfs / Arg241His	1	0.67
72	Pro225Thr / Pro225Thr	1	0.67
73	Pro281Leu / Ala300Ser	1	0.67	landscape
74	Pro281Leu / Ala403Val	1	0.67
75	Pro281Leu / Glu178Gly	1	0.67
76	Pro281Leu / Leu48Ser	1	0.67
77	Pro281Leu / Pro281Leu	1	0.67	landscape
78	Ser349Pro / Ala104Asp	1	0.67	landscape
79	Ser349Pro / Ala259Val	1	0.67
80	Ser349Pro / Ala300Ser	1	0.67
81	Ser349Pro / Leu48Ser	1	0.67
82	Ser349Pro / Ser349Pro	1	0.67
83	Ser349Pro / Val230Ile	1	0.67
84	T117fsX78 / T117fsX78	1	0.67
85	Val230Ala / Ala300Ser	1	0.67
86	Val230Ile / Ala403Val	1	0.67
87	Val230Ile / Leu369Val	1	0.67
88	Y198_E205>Sfs / Y198_E205>Sfs	1	0.67
89	ex3 del / Ala300Ser	1	0.67
90	ex3 del / Ala403Val	1	0.67
91	ex3 del / Arg241His	1	0.67
92	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	Leu48Ser / Arg261Gln	6	3.30	landscape
2	Arg261Gln / Arg261Gln	5	2.75	landscape
3	IVS10-11G>A / Arg261Gln	5	2.75	landscape
4	IVS10nt546 / Arg261Gln	5	2.75
5	IVS10nt546 / IVS10nt546	5	2.75
6	Ala403Val / Ala403Val	4	2.20
7	Arg261Gln / Pro281Leu	4	2.20
8	Leu48Ser / Leu48Ser	4	2.20	landscape
9	Val245Ala / Ala403Val	4	2.20
10	Val245Ala / Arg261Gln	4	2.20
11	Arg408Trp / Leu48Ser	3	1.65	landscape
12	IVS10-11G>A / Pro281Leu	3	1.65	landscape
13	Pro281Leu / Val245Ala	3	1.65
14	Ala403Val / Ala300Ser	2	1.10
15	Arg158Gln / Arg261Gln	2	1.10
16	Arg261Gln / Arg408Gln	2	1.10
17	Arg261Term / IVS10-11G>A	2	1.10
18	IVS10-11G>A / Ala403Val	2	1.10
19	IVS10-11G>A / Arg243Term	2	1.10
20	IVS10-11G>A / IVS10-11G>A	2	1.10	landscape
21	IVS10nt546 / Arg261Term	2	1.10
22	IVS10nt546 / Arg408Trp	2	1.10
23	Ile94Ser / Ile94Ser	2	1.10
24	Leu48Ser / Arg158Gln	2	1.10	landscape
25	Pro281Leu / Pro281Leu	2	1.10	landscape
26	Val245Ala / Arg158Gln	2	1.10
27	c.1055delG / c.1055delG	2	1.10
28	165delT / 284_286delTCA	1	0.55
29	165delT / Asn223Tyr	1	0.55
30	165delT / Pro366His	1	0.55
31	Ala300Ser / Leu287Val	1	0.55
32	Ala403Val / Arg158Gln	1	0.55
33	Ala403Val / Glu178Gly	1	0.55
34	Ala403Val / T1903I	1	0.55
35	Ala403Val / Tyr414Cys	1	0.55
36	Ala403Val / Val388Met	1	0.55
37	Arg158Gln / Ala104Asp	1	0.55
38	Arg158Gln / Arg176Term	1	0.55
39	Arg158Gln / Asp338Tyr	1	0.55
40	Arg158Gln / Glu178Gly	1	0.55
41	Arg158Gln / His201Tyr	1	0.55
42	Arg158Gln / IVS10-11G>A	1	0.55
43	Arg158Gln / Pro366His	1	0.55
44	Arg176Gln / Gly239Ser	1	0.55
45	Arg176Term / IVS4+5G>T	1	0.55
46	Arg241Cys / Ala403Val	1	0.55
47	Arg243Term / F39del	1	0.55
48	Arg252Trp / Arg252Trp	1	0.55	landscape
49	Arg261Gln / Ala300Ser	1	0.55
50	Arg261Gln / Arg53His	1	0.55
51	Arg261Gln / Met276Val	1	0.55
52	Arg261Gln / Tyr386Cys	1	0.55
53	Arg261Gln / c.1055delG	1	0.55
54	Arg261Gln / c.842+3G>C	1	0.55
55	Arg261Term / Ala403Val	1	0.55
56	Arg261Term / Leu48Ser	1	0.55
57	Arg408Gln / Ala403Val	1	0.55
58	Arg408Gln / Arg243Term	1	0.55
59	Arg408Gln / Pro281Leu	1	0.55
60	Arg408Trp / Arg408Trp	1	0.55	landscape
61	F39del / Pro366His	1	0.55
62	Glu178Gly / Val230Ile	1	0.55
63	Glu390Gly / Ala403Val	1	0.55
64	Glu390Gly / Arg261Gln	1	0.55
65	Gly239Ser / Ile65Val	1	0.55
66	Gly272Term / Pro211Thr	1	0.55
67	H290Q / Arg261Gln	1	0.55
68	I65delT / Ala403Val	1	0.55
69	IVS10-11G>A / 47_48delCT	1	0.55
70	IVS10-11G>A / Ala300Ser	1	0.55	landscape
71	IVS10-11G>A / Asp415Asn	1	0.55
72	IVS10-11G>A / Glu280Lys	1	0.55
73	IVS10-11G>A / Gly46Ser	1	0.55
74	IVS10-11G>A / Leu213Pro	1	0.55
75	IVS10-11G>A / Pro211Thr	1	0.55
76	IVS10-11G>A / Tyr414Cys	1	0.55
77	IVS10-11G>A / Val230Ile	1	0.55
78	IVS10-11G>A / Val245Ala	1	0.55
79	IVS10-11G>A / c.116_118delTCT	1	0.55
80	IVS10del546 / Val245Ala	1	0.55
81	IVS10nt546 / Gly257Cys	1	0.55
82	IVS10nt546 / IVS7nt1	1	0.55
83	IVS10nt546 / Leu48Ser	1	0.55
84	IVS10nt546 / Pro281Leu	1	0.55
85	IVS2+5G>C / Ala300Ser	1	0.55
86	IVS4+5G>T / Arg155His	1	0.55
87	IVS4-5C>G / IVS10-11G>A	1	0.55
88	IVS4-5C>G / IVS4-5C>G	1	0.55
89	IVS7+1G>A / Val245Ala	1	0.55
90	IVS8-7 A>G / IVS10-11G>A	1	0.55
91	Ile65Thr / Ala300Ser	1	0.55
92	Ile65Thr / Arg158Gln	1	0.55
93	Ile65Thr / IVS10-11G>A	1	0.55	landscape
94	Ile65Val / Tyr386Cys	1	0.55
95	Leu287Val / Arg261Term	1	0.55
96	Leu48Ser / Ala403Val	1	0.55
97	Leu48Ser / Asp222Gly	1	0.55
98	Leu48Ser / Asp415Asn	1	0.55
99	Leu48Ser / Gln301Pro	1	0.55
100	Leu48Ser / Glu390Gly	1	0.55
101	Met276Val / Ala300Ser	1	0.55
102	Pro281Leu / Arg297His	1	0.55
103	Pro281Leu / I94del.	1	0.55
104	Pro281Leu / Thr278Asn	1	0.55
105	Pro281Leu / Thr380Met	1	0.55
106	Pro281Leu / Trp187Term	1	0.55
107	Pro281Leu / Tyr414Cys	1	0.55
108	Pro281Leu / c.707-2delA	1	0.55
109	S164XfsX1 / IVS10-11G>A	1	0.55
110	Ser411Term / Asp415Asn	1	0.55
111	Ser67Pro / Thr92Ile	1	0.55
112	Ser67Pro / c.1055delG	1	0.55
113	Thr380Met / Arg158Gln	1	0.55
114	Thr380Met / Val388Met	1	0.55
115	Tyr414Cys / Arg261Gln	1	0.55
116	Tyr414Cys / IVS4+5G>T	1	0.55
117	Val230Ile / Ala403Val	1	0.55
118	Val245Ala / 47_48delCT	1	0.55
119	Val245Ala / I65delT	1	0.55
120	Val245Ala / IVS9+2insT	1	0.55
121	Val245Ala / Tyr414Cys	1	0.55
122	Y168SfsTer27 / Arg261Term	1	0.55
123	Y198_E205>Cfs / Arg261Term	1	0.55
124	Y198_E205>Cfs / IVS12+2 T>C	1	0.55
125	Y198_E205>Cfs / Tyr414Cys	1	0.55
126	c.592_613del22 / c.592_613del22	1	0.55
	Total:	182

patients included from: Karam et al

	Genotype	Patients	Frequency in %
1	G352Vfs / G352Vfs	3	21.43
2	IVS10-11G>A / IVS10-11G>A	2	14.29	landscape
3	P89fs / Ala403Val	2	14.29
4	Arg241Cys / IVS10-11G>A	1	7.14
5	Arg261Gln / Arg261Gln	1	7.14	landscape
6	Arg261Gln / IVS4+5G>T	1	7.14
7	F55fs / F55fs	1	7.14
8	IVS10-11G>A / IVS2+5G>C	1	7.14
9	IVS7+1G>T / IVS7+1G>T	1	7.14
10	P89fs / IVS1+5G>T	1	7.14
	Total:	14

patients included from: Kasnauskiene et al

	Genotype	Patients	Frequency in %
1	Arg408Trp / Arg408Trp	50	58.82	landscape
2	Arg158Gln / Arg408Trp	10	11.76	landscape
3	Arg408Trp / Ala403Val	4	4.71	landscape
4	Arg408Trp / Gly272Term	3	3.53
5	Arg408Trp / Glu280Lys	2	2.35
6	Arg158Gln / Arg158Gln	1	1.18
7	Arg158Gln / IVS2-13T>G	1	1.18
8	Arg408Trp / Arg176Term	1	1.18
9	Arg408Trp / Arg261Gln	1	1.18	landscape
10	Arg408Trp / Arg261Term	1	1.18
11	Arg408Trp / E221D222AGdel	1	1.18
12	Arg408Trp / F55fs	1	1.18
13	Arg408Trp / IVS10-11G>A	1	1.18	landscape
14	Arg408Trp / IVS2-13T>G	1	1.18
15	Arg408Trp / Ile306Val	1	1.18	landscape
16	Arg408Trp / L15S16fsCTdel	1	1.18
17	Arg408Trp / Leu311Pro	1	1.18
18	Arg408Trp / Pro281Leu	1	1.18	landscape
19	Arg408Trp / Tyr414Cys	1	1.18	landscape
20	F39del / IVS10-11G>A	1	1.18
21	R211X / Val245Ala	1	1.18
	Total:	85

patients included from: Zschocke (personal communication)

	Genotype	Patients	Frequency in %
1	Arg408Trp / Ile65Thr	12	10.00
2	Arg408Trp / Arg408Trp	9	7.50	landscape
3	Arg408Trp / Phe39Leu	6	5.00
4	Ile65Thr / Ile65Thr	6	5.00
5	Phe39Leu / Ile65Thr	5	4.17
6	Tyr414Cys / Ile65Thr	5	4.17
7	Arg408Trp / Tyr414Cys	4	3.33	landscape
8	Ile65Thr / Leu348Val	4	3.33
9	Arg408Trp / Leu348Val	3	2.50	landscape
10	Arg243Gln / Arg408Trp	2	1.67
11	Arg252Trp / Arg408Trp	2	1.67	landscape
12	Arg408Gln / Arg408Gln	2	1.67
13	Arg408Gln / Arg408Trp	2	1.67
14	Arg408Trp / Glu280Lys	2	1.67
15	Arg408Trp / Gly46Ser	2	1.67
16	Arg408Trp / Leu249Phe	2	1.67
17	Arg408Trp / Leu333Phe	2	1.67
18	IVS12 / Ile65Thr	2	1.67	landscape
19	Ile65Thr / Phe299Cys	2	1.67
20	Leu348Val / Phe39Leu	2	1.67
21	Phe299Cys / Thr380Met	2	1.67
22	Phe39Leu / Phe299Cys	2	1.67
23	Ser273Phe / Arg408Trp	2	1.67
24	Thr380Met / Ile65Thr	2	1.67
25	Ala300Val / Arg408Trp	1	0.83
26	Arg241Leu / Phe39Leu	1	0.83
27	Arg243Gln / Ile65Thr	1	0.83
28	Arg243Term / Arg243Term	1	0.83
29	Arg243Term / Ser67Pro	1	0.83
30	Arg252Trp / Ile65Thr	1	0.83
31	Arg261Gln / Phe39Leu	1	0.83
32	Arg408Trp / Ala309Asp	1	0.83
33	Arg408Trp / Arg158Gln	1	0.83	landscape
34	Arg408Trp / IVS10	1	0.83	landscape
35	Arg408Trp / IVS12	1	0.83	landscape
36	Arg408Trp / IVS8	1	0.83
37	Arg408Trp / Phe299Cys	1	0.83
38	Glu280Lys / Ala300Ser	1	0.83
39	Glu280Lys / Ile65Thr	1	0.83
40	Gly46Ser / Leu348Val	1	0.83
41	IVS12 / Arg243Term	1	0.83
42	IVS12 / Arg252Trp	1	0.83
43	IVS12 / IVS10	1	0.83
44	Ile65Thr / IVS10-3	1	0.83
45	Ile65Thr / Ser349Pro	1	0.83
46	Leu194Pro / Val245Ala	1	0.83
47	Leu348Val / Arg408Gln	1	0.83
48	Leu348Val / Tyr414Cys	1	0.83
49	Phe299Cys / Leu348Val	1	0.83
50	Phe39Leu / Ala309Val	1	0.83
51	Phe39Leu / Arg408Gln	1	0.83
52	Phe39Leu / IVS12	1	0.83
53	Phe39Leu / Leu249Phe	1	0.83
54	Phe39Leu / Phe39Leu	1	0.83
55	R261Q? / Y386C?	1	0.83
56	Thr380Met / Arg261Gln	1	0.83
57	Thr380Met / Arg408Trp	1	0.83
58	Tyr277Asp / Glu390Gly	1	0.83
59	Tyr414Cys / IVS12	1	0.83	landscape
60	Tyr414Cys / Phe299Cys	1	0.83
	Total:	120

patients included from: Bik-Multanowski et al

	Genotype	Patients	Frequency in %
1	Arg408Trp / Arg408Trp	475	39.42	landscape
2	Arg408Trp / IVS10-11G>A	62	5.15	landscape
3	Arg408Trp / Arg158Gln	56	4.65	landscape
4	Ala403Val / Arg408Trp	38	3.15	landscape
5	Ala300Ser / Arg408Trp	34	2.82	landscape
6	Arg408Trp / Pro281Leu	34	2.82	landscape
7	Arg408Trp / IVS12+1G>A	27	2.24	landscape
8	Arg261Gln / Arg408Trp	26	2.16	landscape
9	Tyr414Cys / Arg408Trp	26	2.16	landscape
10	Ile306Val / Arg408Trp	23	1.91	landscape
11	Arg297His / Arg408Trp	19	1.58	landscape
12	Arg408Trp / Arg252Trp	18	1.49	landscape
13	Arg408Trp / g.47563_51794del4232g.56161_56430ins268	13	1.08
14	Arg408Trp / Ile283Phe	12	1.00	landscape
15	Val388Met / Arg408Trp	12	1.00	landscape
16	Arg241His / Arg408Trp	11	0.91	landscape
17	Arg408Trp / F55fs	11	0.91
18	Leu348Val / Arg408Trp	11	0.91	landscape
19	Val245Ala / Arg408Trp	10	0.83	landscape
20	Glu390Gly / Arg408Trp	9	0.75	landscape
21	Asp415Asn / Arg408Trp	8	0.66
22	Arg408Trp / p.K274_Y277Nsf	7	0.58
23	Arg243Gln / Arg408Trp	6	0.50
24	Arg408Trp / Ser349Pro	6	0.50
25	Arg408Trp / Arg243Term	5	0.41
26	Arg408Trp / Gly272Term	5	0.41
27	IVS10-11G>A / IVS10-11G>A	5	0.41	landscape
28	Ala104Asp / Arg408Trp	4	0.33
29	Ala395Pro / Arg408Trp	4	0.33
30	Arg408Trp / IVS7+1G>A	4	0.33
31	F39del / Arg408Trp	4	0.33
32	IVS10-3C>T / Arg408Trp	4	0.33
33	Lys320Asn / Arg408Trp	4	0.33
34	Ala300Ser / Arg158Gln	3	0.25
35	Ala403Val / IVS10-11G>A	3	0.25
36	Arg408Trp / Arg261Term	3	0.25
37	Arg408Trp / Arg68Gly	3	0.25
38	Arg408Trp / Glu280Lys	3	0.25
39	Arg408Trp / IVS4-1G>A	3	0.25
40	Arg408Trp / Phe55Leu	3	0.25
41	Arg408Trp / Ser67Pro	3	0.25
42	Ile306Val / Arg158Gln	3	0.25
43	Ala300Ser / Ala395Pro	2	0.17
44	Ala309Val / Arg408Trp	2	0.17
45	Ala395Pro / Ala395Pro	2	0.17
46	Ala403Val / Arg158Gln	2	0.17
47	Ala403Val / Pro281Leu	2	0.17
48	Arg158Gln / Arg158Gln	2	0.17
49	Arg158Gln / IVS12+1G>A	2	0.17
50	Arg243Term / g.47563_51794del4232g.56161_56430ins268	2	0.17
51	Arg252Trp / Ser349Pro	2	0.17
52	Arg252Trp / Ser67Pro	2	0.17
53	Arg261Gln / Arg261Gln	2	0.17	landscape
54	Arg261Gln / IVS12+1G>A	2	0.17
55	Arg408Trp / Ala342Pro	2	0.17
56	Arg408Trp / D222X	2	0.17
57	Arg408Trp / G312D	2	0.17
58	Arg408Trp / IVS4+1G>A	2	0.17
59	Arg408Trp / IVS4+5G>T	2	0.17
60	Arg408Trp / IVS9-2A>C	2	0.17
61	Arg408Trp / N133_Q134Rfs	2	0.17
62	Arg408Trp / P211L	2	0.17
63	Arg408Trp / Tyr277Cys	2	0.17
64	Arg408Trp / Tyr386Cys	2	0.17
65	Arg68Ser / Arg408Trp	2	0.17
66	IVS10-11G>A / Arg252Trp	2	0.17
67	IVS10-11G>A / Arg261Term	2	0.17
68	IVS10-11G>A / Phe55Leu	2	0.17
69	IVS10-11G>A / Pro281Leu	2	0.17	landscape
70	IVS10-11G>A / S436Pfs	2	0.17
71	IVS12+1G>A / A246Vfs	2	0.17
72	IVS12+1G>A / IVS12+1G>A	2	0.17
73	IVS12+1G>A / Pro281Leu	2	0.17
74	IVS7+1G>A / Arg68Gly	2	0.17
75	Ile306Val / IVS10-11G>A	2	0.17
76	Ile306Val / IVS12+1G>A	2	0.17
77	Leu348Val / Arg158Gln	2	0.17
78	Leu48Ser / Arg408Trp	2	0.17	landscape
79	Pro281Leu / Pro281Leu	2	0.17	landscape
80	Tyr414Cys / IVS10-11G>A	2	0.17
81	21560_26324del4765 / 50448_51402del955	1	0.08
82	47563_51794del4232 / IVS2+5G>C	1	0.08
83	47563_51794del4232 / L424X	1	0.08
84	Ala104Asp / IVS4-1G>A	1	0.08
85	Ala300Ser / Arg261Gln	1	0.08
86	Ala300Ser / F55Lfs	1	0.08
87	Ala300Ser / Glu280Lys	1	0.08
88	Ala300Ser / IVS10-11G>A	1	0.08	landscape
89	Ala300Ser / IVS12+1G>A	1	0.08
90	Ala300Ser / Ile306Val	1	0.08
91	Ala300Ser / Leu48Ser	1	0.08
92	Ala300Ser / Pro281Leu	1	0.08	landscape
93	Ala395Pro / Thr380Met	1	0.08
94	Ala403Val / 47563_51794del4232	1	0.08
95	Ala403Val / F55Lfs	1	0.08
96	Ala403Val / Ile306Val	1	0.08
97	Ala403Val / Phe39Leu	1	0.08
98	Arg158Gln / Arg261Term	1	0.08
99	Arg158Gln / Glu280Lys	1	0.08
100	Arg158Gln / IVS10-11G>A	1	0.08
101	Arg158Gln / Ile283Phe	1	0.08
102	Arg158Gln / N133_Q134Rfs	1	0.08
103	Arg158Gln / Pro281Leu	1	0.08
104	Arg241Cys / Arg408Trp	1	0.08
105	Arg241His / IVS10-11G>A	1	0.08
106	Arg243Gln / IVS10-11G>A	1	0.08
107	Arg243Gln / IVS2+5G>C	1	0.08
108	Arg243Term / A434V	1	0.08
109	Arg243Term / Asp315Tyr	1	0.08
110	Arg252Trp / 21560_26324del4765	1	0.08
111	Arg252Trp / Arg252Trp	1	0.08	landscape
112	Arg261Gln / Ala395Pro	1	0.08
113	Arg261Gln / Arg252Trp	1	0.08
114	Arg261Gln / IVS10-11G>A	1	0.08	landscape
115	Arg261Gln / Phe55Leu	1	0.08
116	Arg261Gln / Pro281Leu	1	0.08
117	Arg261Gln / Ser349Pro	1	0.08
118	Arg297His / Arg297His	1	0.08
119	Arg297His / Tyr414Cys	1	0.08
120	Arg408Gln / Arg408Trp	1	0.08
121	Arg408Trp / 21560_26324del4765	1	0.08
122	Arg408Trp / 61933_62732del800insTACTTACCTAT	1	0.08
123	Arg408Trp / 64833_71300del6468insTTC	1	0.08
124	Arg408Trp / A246Vfs	1	0.08
125	Arg408Trp / Arg111Term	1	0.08
126	Arg408Trp / Arg270Lys	1	0.08
127	Arg408Trp / Arg53His	1	0.08
128	Arg408Trp / Asp315Tyr	1	0.08
129	Arg408Trp / G307D	1	0.08
130	Arg408Trp / Glu183Gln	1	0.08
131	Arg408Trp / IVS2+5G>C	1	0.08
132	Arg408Trp / IVS3-1G>A	1	0.08
133	Arg408Trp / IVS3-1G>C	1	0.08
134	Arg408Trp / IVS8-7A>G	1	0.08
135	Arg408Trp / L358F	1	0.08
136	Arg408Trp / L37P	1	0.08
137	Arg408Trp / Pro407Leu	1	0.08
138	Arg408Trp / Q383X	1	0.08
139	Arg408Trp / T323I	1	0.08
140	Arg408Trp / T92Sfs	1	0.08
141	Arg408Trp / Thr278Ile	1	0.08
142	Arg408Trp / Tyr325Cys	1	0.08
143	Arg408Trp / Tyr356Term	1	0.08
144	Arg408Trp / V412G	1	0.08
145	Arg408Trp / V423Vfs	1	0.08
146	Arg413Pro / Arg413Pro	1	0.08
147	Asp415Asn / IVS10-11G>A	1	0.08
148	F55Lfs / G307D	1	0.08
149	Glu178Gly / Arg408Trp	1	0.08
150	Glu390Gly / Ile283Phe	1	0.08
151	IVS10-11G>A / Arg243Term	1	0.08
152	IVS10-11G>A / F55Lfs	1	0.08
153	IVS10-11G>A / Glu280Lys	1	0.08
154	IVS10-11G>A / Gly272Term	1	0.08
155	IVS10-11G>A / T323del	1	0.08
156	IVS12+1G>A / 47563_51794del4232	1	0.08
157	IVS12+1G>A / Arg243Term	1	0.08
158	IVS12+1G>A / IVS4-1G>A	1	0.08
159	Ile269Leu / Arg408Trp	1	0.08
160	Ile283Phe / Arg261Term	1	0.08
161	Ile306Val / Arg261Gln	1	0.08
162	Ile306Val / Arg261Term	1	0.08
163	Ile306Val / Asp415Asn	1	0.08
164	Ile306Val / Ile306Val	1	0.08
165	Ile306Val / K274Nfs	1	0.08
166	Ile306Val / Leu348Val	1	0.08
167	Ile306Val / Pro281Leu	1	0.08
168	Ile65Thr / Arg408Trp	1	0.08
169	Ile65Thr / Pro225Thr	1	0.08
170	Leu348Val / 47563_51794del4232	1	0.08
171	Leu348Val / Arg261Term	1	0.08
172	Leu348Val / L358F	1	0.08
173	Leu348Val / Phe55Leu	1	0.08
174	Leu348Val / Pro281Leu	1	0.08
175	Leu48Ser / F55Lfs	1	0.08
176	Phe39Leu / Ile283Phe	1	0.08
177	Phe39Leu / Pro281Leu	1	0.08
178	Pro211Thr / Arg408Trp	1	0.08
179	Pro281Leu / Ala342Thr	1	0.08
180	Ser87Arg / Arg408Trp	1	0.08
181	Thr380Met / Arg408Trp	1	0.08
182	Tyr277Cys / Leu194Pro	1	0.08
183	Tyr414Cys / Arg158Gln	1	0.08	landscape
184	Tyr414Cys / F55Lfs	1	0.08
185	Tyr414Cys / Gly272Term	1	0.08
186	Tyr414Cys / IVS7+1G>A	1	0.08
187	Tyr414Cys / Ile283Phe	1	0.08
188	Tyr414Cys / Tyr414Cys	1	0.08
189	Val245Ala / Arg158Gln	1	0.08
	Total:	1205

patients included from: Rivera et al

	Genotype	Patients	Frequency in %
1	IVS10-11G>A / IVS10-11G>A	3	4.48	landscape
2	IVS10-11G>A / Pro281Leu	3	4.48	landscape
3	Ala322Gly / Ser349Pro	2	2.99
4	Arg243Term / IVS10-11G>A	2	2.99
5	Arg261Gln / Arg261Gln	2	2.99	landscape
6	Arg261Gln / Arg408Trp	2	2.99	landscape
7	Arg261Gln / Val388Met	2	2.99
8	Arg261Term / Ile269Leu	2	2.99
9	Arg270Lys / Arg270Lys	2	2.99
10	Arg270Lys / IVS10-11G>A	2	2.99
11	IVS10-11G>A / Val388Met	2	2.99
12	Ile65Thr / Arg261Gln	2	2.99
13	Ile65Thr / Pro281Leu	2	2.99
14	Val388Met / Tyr414Cys	2	2.99
15	Ala300Ser / IVS10-11G>A	1	1.49	landscape
16	Arg158Gln / Arg176Leu	1	1.49
17	Arg158Gln / Arg261Gln	1	1.49
18	Arg158Gln / Arg270Lys	1	1.49
19	Arg158Gln / Pro281Leu	1	1.49
20	Arg158Gln / Y198_E205>Cfs	1	1.49
21	Arg176Leu / Glu390Gly	1	1.49
22	Arg176Term / Arg176Term	1	1.49
23	Arg176Term / IVS10-11G>A	1	1.49
24	Arg176Term / Val388Met	1	1.49
25	Arg241His / Arg261Gln	1	1.49
26	Arg243Gln / Val388Met	1	1.49
27	Arg243Term / Y198_E205>Cfs	1	1.49
28	Arg252Trp / IVS10-11G>A	1	1.49
29	Arg252Trp / T323del	1	1.49
30	Arg252Trp / Val388Met	1	1.49
31	Arg261Gln / IVS10-11G>A	1	1.49	landscape
32	Arg261Gln / Leu311Pro	1	1.49
33	Arg270Lys / Asp415Asn	1	1.49
34	Arg270Lys / Glu390Gly	1	1.49
35	Arg270Lys / Ser349Pro	1	1.49
36	Arg68Ser / Glu178Gly	1	1.49
37	Glu280Lys / Glu280Lys	1	1.49
38	IVS10-11G>A / Ala403Val	1	1.49
39	Ile269Leu / IVS10-11G>A	1	1.49
40	Ile65Thr / Arg243Gln	1	1.49
41	Ile65Thr / Ile65Thr	1	1.49
42	Leu249Phe / Ala309Val	1	1.49
43	Leu249Phe / Arg261Term	1	1.49
44	Leu249Phe / Val388Met	1	1.49
45	Leu311Pro / Leu311Pro	1	1.49
46	Leu348Val / Arg270Lys	1	1.49
47	Pro281Leu / Pro281Leu	1	1.49	landscape
48	T323del / T323del	1	1.49
49	T323del / Val388Met	1	1.49
50	Val230Ile / Pro281Leu	1	1.49
51	Val388Met / Val388Met	1	1.49
	Total:	67

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

	Genotype	Patients	Frequency in %
1	Arg408Trp / Arg408Trp	847	36.06	landscape
2	Arg261Gln / Arg408Trp	141	6.00	landscape
3	Pro281Leu / Arg408Trp	100	4.26	landscape
4	Arg408Trp / IVS12+1G>A	96	4.09	landscape
5	Arg158Gln / Arg408Trp	89	3.79	landscape
6	IVS10-11G>A / Arg408Trp	68	2.89	landscape
7	Ala403Val / Arg408Trp	48	2.04	landscape
8	Arg252Trp / Arg408Trp	47	2.00	landscape
9	Arg408Trp / Tyr414Cys	47	2.00	landscape
10	D222* / Arg408Trp	47	2.00
11	Arg261Term / Arg261Term	41	1.75
12	IVS4+5G>T / Arg408Trp	37	1.58
13	Glu280Lys / Arg408Trp	35	1.49
14	Leu48Ser / Arg408Trp	34	1.45	landscape
15	ex5del / Arg408Trp	34	1.45
16	Ala300Ser / Arg408Trp	30	1.28	landscape
17	Glu390Gly / Arg408Trp	29	1.23	landscape
18	Arg261Gln / Arg261Gln	28	1.19	landscape
19	Ile306Val / Arg408Trp	28	1.19	landscape
20	Arg243Term / Arg408Trp	24	1.02
21	Arg261Term / Arg408Trp	24	1.02
22	IVS10-11G>A / IVS10-11G>A	15	0.64	landscape
23	Arg111Term / Arg408Trp	14	0.60
24	Arg261Gln / IVS12+1G>A	14	0.60
25	IVS2+5G>A / Arg408Trp	12	0.51
26	Pro281Leu / Pro281Leu	12	0.51	landscape
27	Ser349Pro / Arg408Trp	12	0.51
28	D222* / Arg261Gln	10	0.43
29	IVS2+5G>C / Arg408Trp	10	0.43
30	Arg252Trp / Pro281Leu	9	0.38
31	Pro281Leu / IVS10-11G>A	9	0.38	landscape
32	Arg261Gln / IVS10-11G>A	8	0.34	landscape
33	S16* / Arg408Trp	8	0.34
34	Arg158Gln / Arg261Gln	7	0.30
35	Arg158Gln / IVS12+1G>A	7	0.30
36	Arg252Trp / Arg261Term	7	0.30
37	Arg261Term / Pro281Leu	7	0.30
38	Pro281Leu / Glu390Gly	7	0.30
39	Pro281Leu / IVS12+1G>A	7	0.30
40	Arg158Gln / Pro281Leu	6	0.26
41	Arg261Gln / Pro281Leu	6	0.26
42	Leu48Ser / Pro281Leu	6	0.26
43	Arg158Gln / Ala403Val	5	0.21
44	Arg243Term / Arg243Term	5	0.21
45	Arg243Term / Arg261Gln	5	0.21
46	Arg261Gln / Glu280Lys	5	0.21
47	D222* / IVS12+1G>A	5	0.21
48	IVS4+5G>T / IVS4+5G>T	5	0.21
49	Pro281Leu / Ala300Ser	5	0.21	landscape
50	Ala300Ser / IVS10-11G>A	4	0.17	landscape
51	Arg111Term / Arg158Gln	4	0.17
52	Arg243Gln / Arg243Gln	4	0.17
53	Arg243Gln / Arg408Trp	4	0.17
54	Arg261Gln / Arg261Term	4	0.17
55	Arg261Gln / Ile306Val	4	0.17
56	D222* / Pro281Leu	4	0.17
57	Glu280Lys / IVS12+1G>A	4	0.17
58	IVS10-11G>A / Ala403Val	4	0.17
59	IVS12+1G>A / IVS12+1G>A	4	0.17
60	Pro281Leu / Ala403Val	4	0.17
61	Arg158Gln / Arg158Gln	3	0.13
62	Arg243Term / IVS12+1G>A	3	0.13
63	Arg252Trp / Arg252Trp	3	0.13	landscape
64	Arg252Trp / Glu390Gly	3	0.13
65	Arg252Trp / Tyr414Cys	3	0.13
66	Arg261Term / Ala403Val	3	0.13
67	Arg261Term / IVS10-11G>A	3	0.13
68	Arg408Trp / Ex5del	3	0.13
69	D222* / Glu280Lys	3	0.13
70	Glu280Lys / IVS10-11G>A	3	0.13
71	Glu280Lys / Pro281Leu	3	0.13
72	IVS10-11G>A / Glu390Gly	3	0.13
73	IVS10-11G>A / IVS12+1G>A	3	0.13
74	IVS2+5G>C / IVS10-11G>A	3	0.13
75	IVS4+5G>T / Arg261Gln	3	0.13
76	IVS4+5G>T / IVS12+1G>A	3	0.13
77	Leu48Ser / IVS12+1G>A	3	0.13
78	S16* / Pro281Leu	3	0.13
79	Ser349Pro / IVS10-11G>A	3	0.13
80	Tyr414Cys / IVS12+1G>A	3	0.13	landscape
81	ex5del / Arg261Gln	3	0.13
82	Ala300Ser / Ala403Val	2	0.09
83	Ala403Val / Ala403Val	2	0.09
84	Ala403Val / IVS12+1G>A	2	0.09
85	Arg111Term / Arg111Term	2	0.09
86	Arg111Term / Arg252Trp	2	0.09
87	Arg111Term / Arg261Gln	2	0.09
88	Arg111Term / D222*	2	0.09
89	Arg158Gln / Ala300Ser	2	0.09
90	Arg158Gln / Glu390Gly	2	0.09
91	Arg158Gln / IVS4+5G>T	2	0.09
92	Arg243Gln / Pro281Leu	2	0.09
93	Arg243Term / Glu390Gly	2	0.09
94	Arg252Trp / Arg261Gln	2	0.09
95	Arg252Trp / IVS12+1G>A	2	0.09
96	Arg261Gln / Ala403Val	2	0.09
97	Arg261Gln / Glu390Gly	2	0.09
98	Arg261Gln / Tyr414Cys	2	0.09
99	Arg261Term / IVS12+1G>A	2	0.09
100	D222* / Arg252Trp	2	0.09
101	D222* / IVS10-11G>A	2	0.09
102	D222* / Tyr414Cys	2	0.09
103	Glu280Lys / Ile306Val	2	0.09
104	Glu390Gly / Glu390Gly	2	0.09
105	Glu390Gly / IVS12+1G>A	2	0.09
106	IVS10-11G>A / Arg243Term	2	0.09
107	IVS10-11G>A / Arg252Trp	2	0.09
108	IVS10-11G>A / Tyr414Cys	2	0.09
109	IVS12+1G>A / EX5del	2	0.09
110	IVS2+5G>A / Pro281Leu	2	0.09
111	IVS2+5G>C / Arg158Gln	2	0.09
112	IVS2+5G>C / Arg261Gln	2	0.09
113	IVS4+5G>T / Glu280Lys	2	0.09
114	IVS4+5G>T / Glu390Gly	2	0.09
115	Leu48Ser / Ala403Val	2	0.09
116	Leu48Ser / Arg252Trp	2	0.09
117	Leu48Ser / IVS10-11G>A	2	0.09	landscape
118	Leu48Ser / Leu48Ser	2	0.09	landscape
119	Pro281Leu / Ile306Val	2	0.09
120	Pro281Leu / Tyr414Cys	2	0.09
121	Pro281Leu / ex5del	2	0.09
122	Ser349Pro / Ala403Val	2	0.09
123	ex5del / Arg252Trp	2	0.09
124	ex5del / IVS10-11G>A	2	0.09
125	ex5del / ex5del	2	0.09
126	Ala300Ser / IVS12+1G>A	1	0.04
127	Ala300Ser / Ile306Val	1	0.04
128	Arg111Term / Ala403Val	1	0.04
129	Arg111Term / Arg243Gln	1	0.04
130	Arg111Term / Glu280Lys	1	0.04
131	Arg111Term / Glu390Gly	1	0.04
132	Arg158Gln / Arg261Term	1	0.04
133	Arg158Gln / D222*	1	0.04
134	Arg158Gln / IVS10-11G>A	1	0.04
135	Arg158Gln / IVS2+5G>A	1	0.04
136	Arg158Gln / Ile306Val	1	0.04
137	Arg158Gln / Ser349Pro	1	0.04
138	Arg158Gln / Tyr414Cys	1	0.04	landscape
139	Arg158Trp / Arg261Gln	1	0.04
140	Arg243Gln / IVS10-11G>A	1	0.04
141	Arg243Gln / IVS12+1G>A	1	0.04	landscape
142	Arg243Gln / Tyr414Cys	1	0.04
143	Arg243Term / Arg252Trp	1	0.04
144	Arg243Term / Glu280Lys	1	0.04
145	Arg243Term / IVS2+5G>A	1	0.04
146	Arg252Trp / Ala403Val	1	0.04
147	Arg252Trp / Ile306Val	1	0.04
148	Arg261Gln / Ala300Ser	1	0.04
149	Arg261Gln / Ser349Pro	1	0.04
150	Arg261Term / Ile306Val	1	0.04
151	Arg261Term / Tyr414Cys	1	0.04
152	D222* / Ile306Val	1	0.04
153	D222* / Ser349Pro	1	0.04
154	EX5del / Glu280Lys	1	0.04
155	Glu280Lys / Glu280Lys	1	0.04
156	IVS12+5G>T / Glu280Lys	1	0.04
157	IVS2+5G>A / Arg261Gln	1	0.04
158	IVS2+5G>A / IVS10-11G>A	1	0.04
159	IVS2+5G>A / IVS12+1G>A	1	0.04
160	IVS2+5G>C / Pro211Thr	1	0.04
161	IVS2+5G>C / Pro281Leu	1	0.04
162	IVS4+5G>T / Ala403Val	1	0.04
163	IVS4+5G>T / Tyr414Cys	1	0.04
164	Ile306Val / IVS10-11G>A	1	0.04
165	Leu48Ser / Arg158Gln	1	0.04	landscape
166	Leu48Ser / Arg243Gln	1	0.04
167	Leu48Ser / Arg243Term	1	0.04
168	Leu48Ser / Arg261Gln	1	0.04	landscape
169	Leu48Ser / Glu280Lys	1	0.04
170	S16* / Arg158Gln	1	0.04
171	S16* / Arg252Trp	1	0.04
172	S16* / Arg261Gln	1	0.04
173	S16* / Glu390Gly	1	0.04
174	S16* / IVS10-11G>A	1	0.04
175	S16* / Ile306Val	1	0.04
176	S16* / Pro279Leu	1	0.04
177	S16* / Tyr414Cys	1	0.04
	Total:	2349

patients included from: Stjiljkovic et alDjordojevic et al

	Genotype	Patients	Frequency in %
1	Leu48Ser / Arg408Trp	10	11.11	landscape
2	Leu48Ser / Leu48Ser	9	10.00	landscape
3	Arg408Trp / Glu390Gly	6	6.67	landscape
4	Leu48Ser / Arg158Gln	5	5.56	landscape
5	Leu48Ser / Pro281Leu	4	4.44
6	Leu48Ser / Ile306Val	3	3.33
7	Leu48Ser / Ser231Phe	3	3.33
8	Arg111Term / IVS10-11G>A	2	2.22
9	Arg261Gln / IVS12+1G>A	2	2.22
10	Arg261Gln / Ile306Val	2	2.22
11	Arg261Term / Ile306Val	2	2.22
12	Arg408Trp / Arg252Gln	2	2.22
13	Arg408Trp / Arg408Trp	2	2.22	landscape
14	Arg408Trp / Arg413Pro	2	2.22
15	Arg408Trp / Pro225Thr	2	2.22
16	Gln20Term / Val177Leu	2	2.22
17	Glu390Gly / Arg158Gln	2	2.22
18	Glu390Gly / Arg261Term	2	2.22
19	IVS12+1G>A / Arg297His	2	2.22
20	Leu48Ser / Arg261Gln	2	2.22	landscape
21	Leu48Ser / Gln20Term	2	2.22
22	Leu48Ser / Val177Leu	2	2.22
23	Pro281Leu / IVS12+1G>A	2	2.22
24	Pro281Leu / Pro225Thr	2	2.22
25	Pro281Leu / Pro281Leu	2	2.22	landscape
26	Ala403Val / Arg408Trp	1	1.11	landscape
27	Arg111Term / Arg111Term	1	1.11
28	Arg243Term / Arg243Term	1	1.11
29	Arg261Gln / L15/S16fs	1	1.11
30	Arg261Gln / L15fs	1	1.11
31	Arg408Trp / IVS10+3 A>G	1	1.11
32	Arg408Trp / Val177Leu	1	1.11
33	Glu390Gly / Pro281Leu	1	1.11
34	Ile306Val / Arg408Trp	1	1.11	landscape
35	Ile306Val / Pro416Gln	1	1.11
36	Leu48Ser / Pro225Thr	1	1.11
37	Leu48Ser / Val177Met	1	1.11
38	Tyr414Cys / IVS10-11G>A	1	1.11
39	Tyr414Cys / Leu213Pro	1	1.11
	Total:	90

patients included from: Polak et al

	Genotype	Patients	Frequency in %
1	Arg408Trp / Arg408Trp	54	27.00	landscape
2	IVS12+1G>A / Arg408Trp	10	5.00	landscape
3	Ala403Val / Arg408Trp	9	4.50	landscape
4	Arg158Gln / Arg408Trp	8	4.00	landscape
5	Pro281Leu / Arg408Trp	8	4.00	landscape
6	Arg252Trp / Arg252Trp	7	3.50	landscape
7	Arg261Gln / Arg408Trp	6	3.00	landscape
8	Arg252Trp / Arg408Trp	5	2.50	landscape
9	Ile306Val / Arg408Trp	5	2.50	landscape
10	Arg158Gln / Arg158Gln	4	2.00
11	IVS2+5G>C / Arg408Trp	4	2.00
12	ex5 del4232ins268 / Arg408Trp	4	2.00
13	IVS10-11G>A / Arg408Trp	3	1.50	landscape
14	IVS4+5G>T / Arg408Trp	3	1.50
15	IVS7+1G>A / Arg408Trp	3	1.50
16	Ala300Ser / Arg408Trp	2	1.00	landscape
17	IVS12+1G>A / Ile306Val	2	1.00
18	Val245Ala / Arg408Trp	2	1.00	landscape
19	Ala403Val / Ala300Ser	1	0.50
20	Ala403Val / Ala322Thr	1	0.50
21	Ala403Val / Arg158Gln	1	0.50
22	Ala403Val / ex5 del4232ins268	1	0.50
23	Arg158Gln / Lys320Asn	1	0.50
24	Arg158Gln / Phe39Leu	1	0.50
25	Arg158Gln / Tyr414Cys	1	0.50	landscape
26	Arg243Term / Pro281Leu	1	0.50
27	Arg252Trp / Ala300Ser	1	0.50
28	Arg261Gln / Ala300Ser	1	0.50
29	Arg261Gln / Ala403Val	1	0.50
30	Arg261Gln / Arg158Gln	1	0.50
31	Arg261Gln / Arg261Gln	1	0.50	landscape
32	Arg261Gln / IVS2+5G>C	1	0.50
33	Arg261Gln / Ile306Val	1	0.50
34	Arg261Gln / Leu348Val	1	0.50
35	Arg261Gln / Trp326Term	1	0.50
36	Arg408Trp / Ala104Asp	1	0.50
37	Arg408Trp / Arg53His	1	0.50
38	Arg408Trp / F233I	1	0.50
39	Arg408Trp / F55Lfs*6	1	0.50
40	Arg408Trp / Gln20Term	1	0.50
41	Arg408Trp / Gln336Term	1	0.50
42	Arg408Trp / Glu390Gly	1	0.50	landscape
43	Arg408Trp / IVS5-6T>G	1	0.50
44	Arg408Trp / Lys320Asn	1	0.50
45	Arg408Trp / Pro211Thr	1	0.50
46	Arg408Trp / R270I	1	0.50
47	Arg408Trp / Ser349Pro	1	0.50
48	Arg408Trp / Thr278Asn	1	0.50
49	Arg408Trp / Tyr204Cys	1	0.50
50	Arg408Trp / Tyr414Cys	1	0.50	landscape
51	Arg68Ser / IVS7+1G>A	1	0.50
52	F55Lfs6 / F55Lfs6	1	0.50
53	IVS10-11G>A / Arg176Term	1	0.50
54	IVS10-11G>A / Ile306Val	1	0.50
55	IVS10-11G>A / Leu213Pro	1	0.50
56	IVS12+1G>A / Ala300Ser	1	0.50
57	IVS12+1G>A / Arg158Gln	1	0.50
58	IVS12+1G>A / Arg252Trp	1	0.50
59	IVS12+1G>A / Arg261Gln	1	0.50
60	IVS12+1G>A / Glu390Gly	1	0.50
61	IVS12+1G>A / IVS10-11G>A	1	0.50
62	IVS12+1G>A / IVS12+1G>A	1	0.50
63	IVS12+1G>A / IVS2+5G>C	1	0.50
64	IVS12+1G>A / Val177Met	1	0.50
65	IVS4+5G>T / IVS4+5G>T	1	0.50
66	IVS4+5G>T / Val177Met	1	0.50
67	Ile65Thr / Ile65Thr	1	0.50
68	L358F / F331S	1	0.50
69	Leu348Val / Glu390Gly	1	0.50
70	Lys320Asn / Tyr414Cys	1	0.50
71	Pro281Leu / IVS2+5G>C	1	0.50
72	Pro281Leu / Thr278Asn	1	0.50
73	R270I / Ile306Val	1	0.50
74	Tyr387Term / ex5 del4232ins268	1	0.50
75	Tyr414Cys / Tyr414Cys	1	0.50
76	Val230Ile / ex3del4765	1	0.50
77	Val245Ala / F233I	1	0.50
78	ex5 del4232ins268 / IVS2+5G>C	1	0.50
79	ex5 del4232ins268 / IVS7+1G>A	1	0.50
	Total:	200

patients included from: Tansek et al

	Genotype	Patients	Frequency in %
1	Arg158Gln / Glu390Gly	4	11.43
2	Arg261Gln / Glu390Gly	2	5.71
3	Leu48Ser / IVS4-5C>G	2	5.71
4	Pro281Leu / Ala403Val	2	5.71
5	Arg157Ser / Arg158Gln	1	2.86
6	Arg158Gln / Arg408Trp	1	2.86	landscape
7	Arg158Gln / IVS10-3C>T	1	2.86
8	Arg158Gln / Val177Leu	1	2.86
9	Arg261Gln / Arg408Trp	1	2.86	landscape
10	Arg408Trp / Arg408Trp	1	2.86	landscape
11	Arg408Trp / Asp415Asn	1	2.86
12	F55>Lfs / Arg157Ser	1	2.86
13	F55>Lfs / Arg408Trp	1	2.86
14	F55>Lfs / IVS12+1G>A	1	2.86
15	Gln226His / Ala403Val	1	2.86
16	Glu390Gly / Arg408Trp	1	2.86	landscape
17	IVS10-3C>T / Arg408Trp	1	2.86
18	IVS10-3C>T / IVS12+1G>A	1	2.86
19	IVS12+1G>A / Ala403Val	1	2.86
20	IVS4+5G>T / Glu178Gly	1	2.86
21	IVS8+2T>C / IVS10-3C>T	1	2.86
22	IVS8-2A>G / Glu390Gly	1	2.86
23	Leu48Ser / Ser349Pro	1	2.86
24	N133Rfs / IVS8-7A>G	1	2.86
25	Val45Ala / Pro281Leu	1	2.86
26	ex3del4765 / Ala300Ser	1	2.86
27	ex5del955 / Arg261Gln	1	2.86
28	ex5del955 / Arg408Trp	1	2.86
29	ex5del955 / Asp415Asn	1	2.86
	Total:	35

patients included from: Couce et alDesviat et alBueno et al

	Genotype	Patients	Frequency in %
1	IVS10nt-11G>A / IVS10nt-11G>A	6	3.64
2	IVS4nt+5G>T / Val388Met	5	3.03
3	Ser349Pro / Ser349Pro	5	3.03
4	Arg261Gln / IVS10-11G>A	4	2.42	landscape
5	Tyr204Term / Arg68Ser	4	2.42
6	Arg261Gln / Arg261Pro	3	1.82
7	Arg261Gln / Ile65Thr	3	1.82
8	IVS10-11G>A / Ile65Thr	3	1.82	landscape
9	IVS12nt+1G>A / IVS12nt+1G>A	3	1.82
10	IVS4nt+5G>A / Val388Met	3	1.82
11	Val388Met / IVS8nt-7A>G	3	1.82
12	Ala300Ser / Cys203Tyr	2	1.21
13	Ala403Val / Arg261Gln	2	1.21
14	Ala403Val / Val388Met	2	1.21
15	Arg243Gln / IVS10-11G>A	2	1.21
16	Arg243Gln / IVS10nt-11G>A	2	1.21
17	Arg243Gln / Val388Met	2	1.21
18	Arg243Term / IVS10-11G>A	2	1.21
19	Arg261Pro / Ile65Thr	2	1.21
20	Arg408Trp / Arg408Trp	2	1.21	landscape
21	F55Lfs / Arg261Gln	2	1.21
22	Glu280Lys / Val388Met	2	1.21
23	IVS10-11G>A / IVS10-11G>A	2	1.21	landscape
24	IVS1nt+5G>T / Arg261Gln	2	1.21
25	IVS4nt+5G>T / IVS10nt-11G>A	2	1.21
26	Ile65Thr / IVS10	2	1.21	landscape
27	Ile65Thr / Q304Q	2	1.21
28	Ile65Thr / Val388Met	2	1.21
29	Leu48Ser / Tyr277Asp	2	1.21
30	Met1Ile / Phe55Leu	2	1.21
31	Ser303Ala / Gly46Ser	2	1.21
32	Ser349Pro / Arg261Gln	2	1.21
33	Ser349Pro / Val388Met	2	1.21
34	Tyr414Cys / Gly46Ser	2	1.21
35	Tyr414Cys / IVS4nt+5G>A	2	1.21
36	Ala104Asp / Arg158Gln	1	0.61
37	Ala300Ser / Q304Q	1	0.61
38	Ala309Val / IVS1nt5	1	0.61
39	Arg158Gln / Glu280Lys	1	0.61
40	Arg158Gln / Leu48Ser	1	0.61	landscape
41	Arg176Leu / Pro281Leu	1	0.61
42	Arg176Term / Arg261Gln	1	0.61
43	Arg243Gln / Glu390Gly	1	0.61
44	Arg243Term / Leu48Ser	1	0.61
45	Arg243Term / Val388Met	1	0.61
46	Arg261Gln / Ala300Ser	1	0.61
47	Arg261Gln / Arg261Gln	1	0.61	landscape
48	Arg261Gln / Arg408Trp	1	0.61	landscape
49	Arg261Term / Arg243Gln	1	0.61
50	Arg261Term / Arg261Term	1	0.61
51	Arg270Lys / IVS10-11G>A	1	0.61
52	Arg408Gln / Leu311Pro	1	0.61
53	Arg408Trp / Arg252Gln	1	0.61
54	Arg68Ser / F39del	1	0.61
55	Arg68Ser / IVS10-11G>A	1	0.61
56	Arg68Ser / IVS12nt+1G>A	1	0.61
57	Arg68Ser / IVS4nt+5G>A	1	0.61
58	Arg68Ser / IVS7nt3	1	0.61
59	Arg68Ser / Pro362Thr	1	0.61
60	Asp415Asn / Arg176Term	1	0.61
61	E66K / Ser349Pro	1	0.61
62	Glu280Lys / Arg261Gln	1	0.61
63	Glu280Lys / Glu280Lys	1	0.61
64	Glu390Gly / IVS12nt1	1	0.61
65	Glu390Gly / Val388Met	1	0.61
66	Gly46Ser / Arg243Gln	1	0.61
67	IVS10 / delF39	1	0.61
68	IVS10-3C>T / IVS10-3C>T	1	0.61
69	IVS10nt-11G>A / Asn61Lys	1	0.61
70	IVS10nt-11G>A / Cys217Gly	1	0.61
71	IVS10nt-11G>A / G352fs del	1	0.61
72	IVS10nt-11G>A / Ile65Thr	1	0.61
73	IVS1nt+5G>T / Arg261Pro	1	0.61
74	IVS1nt+5G>T / Glu390Gly	1	0.61
75	IVS1nt5 / Leu348Val	1	0.61
76	IVS2nt5G>A / Ile65Thr	1	0.61
77	IVS4nt+5G>A / Glu390Gly	1	0.61
78	IVS4nt+5G>A / IVS10nt-11G>A	1	0.61
79	IVS4nt+5G>A / R256Q	1	0.61
80	IVS4nt+5G>A / not det	1	0.61
81	Ile65Thr / Ala300Ser	1	0.61
82	Ile65Thr / Ala309Val	1	0.61
83	Ile65Thr / Arg158Gln	1	0.61
84	Ile65Thr / Arg243Term	1	0.61
85	Ile65Thr / Arg408Gln	1	0.61
86	Ile65Thr / Phe55Leu	1	0.61
87	Ile65Thr / Pro244Leu	1	0.61
88	Ile65Thr / Pro275Arg	1	0.61
89	Ile65Thr / S196fs	1	0.61
90	Leu258Pro / Leu258Pro	1	0.61
91	Leu348Val / Arg261Pro	1	0.61
92	Phe55Leu / R281L	1	0.61
93	Pro122Gln / Phe39Leu	1	0.61
94	Pro211Thr / IVS10-11G>A	1	0.61
95	Pro244Leu / Arg261Gln	1	0.61
96	Pro275Arg / Leu348Val	1	0.61
97	Q304Q / Arg176Leu	1	0.61
98	R155C / G289R	1	0.61
99	Ser349Pro / Arg261Pro	1	0.61
100	Ser87Arg / G352fs del	1	0.61
101	Ser87Arg / Ser349Pro	1	0.61
102	Thr418Asn / IVS10	1	0.61
103	Tyr414Cys / Gly272Term	1	0.61
104	Tyr414Cys / Leu348Val	1	0.61
105	Val388Met / Arg261Pro	1	0.61
106	Val388Met / IVS10	1	0.61
107	Val388Met / Leu48Ser	1	0.61
108	Val388Met / Tyr414Cys	1	0.61
109	Val388Met / Val388Met	1	0.61
110	delF39 / Arg176Term	1	0.61
	Total:	165

patients included from: Svensson et al

	Genotype	Patients	Frequency in %
1	Arg408Trp / IVS12	9	18.00	landscape
2	Arg408Trp / Arg408Trp	5	10.00	landscape
3	Arg408Trp / Tyr414Cys	5	10.00	landscape
4	IVS12 / Tyr414Cys	5	10.00	landscape
5	Tyr414Cys / Tyr414Cys	5	10.00
6	IVS12 / IVS12	4	8.00
7	Arg158Gln / Tyr414Cys	2	4.00	landscape
8	Arg243Term / Tyr414Cys	2	4.00
9	Arg408Trp / Ala322Gly	2	4.00
10	Ala322Gly / Arg408Gln	1	2.00
11	Arg252Trp / Ala322Gly	1	2.00
12	Arg261Gln / Arg261Gln	1	2.00	landscape
13	Arg408Trp / Arg408Gln	1	2.00
14	Arg408Trp / Pro281Leu	1	2.00	landscape
15	Gly272Term / Tyr414Cys	1	2.00
16	Gly272Term / deltaL364	1	2.00
17	IVS12 / Arg252Trp	1	2.00
18	IVs12 / Gly272Term	1	2.00
19	Pro281Leu / Pro281Leu	1	2.00	landscape
20	Tyr414Cys / Arg408Gln	1	2.00
	Total:	50

patients included from: Murad et al

	Genotype	Patients	Frequency in %
1	Arg243Gln / Arg243Gln	3	10.34
2	Arg261Gln / Arg261Gln	3	10.34	landscape
3	F55>Lfs / F55>Lfs	3	10.34
4	Glu280Lys / Glu280Lys	2	6.90
5	IVS10-11G>A / IVS10-11G>A	2	6.90	landscape
6	IVS2+5G>C / IVS2+5G>C	2	6.90
7	Pro281Leu / Pro281Leu	2	6.90	landscape
8	Ser310Phe / Ser310Phe	2	6.90
9	Arg270Lys / Arg270Lys	1	3.45
10	Arg408Trp / Arg408Trp	1	3.45	landscape
11	D151E / IVS10-11G>A	1	3.45
12	IVS11+1G>A / IVS11+1G>A	1	3.45
13	IVS4+5G>T / Arg270Lys	1	3.45
14	IVS4+5G>T / IVS4+5G>T	1	3.45
15	IVS4+5G>T / IVS9+5G>A	1	3.45
16	IVS7+1G>A / IVS7+1G>A	1	3.45
17	IVS9+5G>A / IVS9+5G>A	1	3.45
18	Tyr387His / Tyr387His	1	3.45
	Total:	29

patients included from: Dobrowolski et al

	Genotype	Patients	Frequency in %
1	IVS10-11G>A / IVS10-11G>A	84	33.33	landscape
2	Arg261Gln / Arg261Gln	27	10.71	landscape
3	Pro281Leu / Pro281Leu	27	10.71	landscape
4	Arg408Trp / Arg408Trp	15	5.95	landscape
5	IVS10-11G>A / Arg408Trp	13	5.16	landscape
6	IVS10-11G>A / Leu48Ser	13	5.16	landscape
7	Leu48Ser / Leu48Ser	12	4.76	landscape
8	c.441+5G>T / c.441+5G>T	11	4.37
9	IVS10-11G>A / Ala300Ser	10	3.97	landscape
10	IVS10-11G>A / Pro281Leu	10	3.97	landscape
11	Ala300Ser / Ala300Ser	9	3.57
12	Glu390Gly / Glu390Gly	8	3.17
13	Arg252Trp / Arg252Trp	7	2.78	landscape
14	Arg241Cys / Arg241Cys	6	2.38
	Total:	252

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

	Genotype	Patients	Frequency in %
1	Arg408Trp / Arg408Trp	13	4.55	landscape
2	Arg408Trp / IVS12+1G>A	11	3.85	landscape
3	Tyr414Cys / Ile65Thr	9	3.15
4	Arg408Trp / Tyr414Cys	8	2.80	landscape
5	Arg408Trp / Ile65Thr	6	2.10
6	Ile65Thr / Ile65Thr	5	1.75
7	Arg408Trp / Leu348Val	4	1.40	landscape
8	Leu348Val / Leu348Val	4	1.40
9	Arg408Trp / Ala104Asp	3	1.05
10	Arg408Trp / Arg261Gln	3	1.05	landscape
11	Arg408Trp / Arg68Ser	3	1.05
12	Glu280Lys / Phe299Cys	3	1.05
13	IVS12+1G>A / IVS12+1G>A	3	1.05
14	Pro281Leu / IVS12+1G>A	3	1.05
15	Ala447Asp / Arg408Trp	2	0.70
16	Arg176Term / Val388Met	2	0.70
17	Arg241His / Arg252Trp	2	0.70
18	Arg252Gln / IVS12+1G>A	2	0.70
19	Arg252Trp / Gln304Arg	2	0.70
20	Arg261Term / IVS10-11G>A	2	0.70
21	Arg408Trp / Arg243Term	2	0.70
22	Arg408Trp / Leu48Ser	2	0.70	landscape
23	Arg408Trp / Phe39Leu	2	0.70
24	Arg68Ser / Ile65Thr	2	0.70
25	Glu280Lys / Arg408Trp	2	0.70
26	IVS1+5G>T / Gly272Term	2	0.70
27	IVS10-11G>A / IVS10-11G>A	2	0.70	landscape
28	IVS11+20G>C / Arg408Trp	2	0.70
29	IVS12+1G>A / Arg241Cys	2	0.70
30	IVS8+1G>A / Arg408Trp	2	0.70
31	IVS8+1G>A / IVS8+1G>A	2	0.70
32	Ile65Thr / Arg111Term	2	0.70
33	Ile65Thr / Glu280Lys	2	0.70
34	Ile65Thr / Leu348Val	2	0.70
35	Ile65Thr / Leu48Ser	2	0.70
36	Ile65Thr / Ser349Pro	2	0.70
37	Leu48Ser / Phe39L	2	0.70
38	Phe39Leu / Ile65Thr	2	0.70
39	R216Q / Arg408Trp	2	0.70
40	Tyr414Cys / Ala104Asp	2	0.70
41	Tyr414Cys / Arg68Ser	2	0.70
42	Ala104Asp / Asp222Gly	1	0.35
43	Ala104Asp / Pro281Leu	1	0.35
44	Ala300Ser / Arg408Trp	1	0.35	landscape
45	Ala395Pro / Arg408Trp	1	0.35
46	Ala403Val / Arg408Trp	1	0.35	landscape
47	Arg158Gln / Arg261Gln	1	0.35
48	Arg158Gln / Gly272Term	1	0.35
49	Arg158Gln / IVS12+1G>A	1	0.35
50	Arg158Gln / IVS4+5G>T	1	0.35
51	Arg241Cys / IVS8+1G>A	1	0.35
52	Arg241Cys / IVS8nt1	1	0.35
53	Arg241Cys / Ser349Pro	1	0.35
54	Arg241Leu / Arg408Trp	1	0.35
55	Arg243Term / IVS10-11G>A	1	0.35
56	Arg243Term / Ile65Thr	1	0.35
57	Arg252Trp / Arg408Gln	1	0.35
58	Arg252Trp / Arg408Trp	1	0.35	landscape
59	Arg252Trp / Arg68Ser	1	0.35
60	Arg252Trp / Pro211Thr	1	0.35
61	Arg252Trp / Tyr414Cys	1	0.35
62	Arg261Gln / Arg243Leu	1	0.35
63	Arg261Gln / Arg261Gln	1	0.35	landscape
64	Arg261Gln / Gly272Term	1	0.35
65	Arg261Gln / IVS10-11G>A	1	0.35	landscape
66	Arg261Gln / IVS12+1G>A	1	0.35
67	Arg261Gln / Leu308Phe	1	0.35
68	Arg261Gln / Pro211Thr	1	0.35
69	Arg261Gln / c.283-285delATC	1	0.35
70	Arg270Lys / delI94	1	0.35
71	Arg408Trp / Ala309Asp	1	0.35
72	Arg408Trp / Ala309Val	1	0.35
73	Arg408Trp / Arg111Term	1	0.35
74	Arg408Trp / Arg158Gln	1	0.35	landscape
75	Arg408Trp / Arg261Term	1	0.35
76	Arg408Trp / Arg408Gln	1	0.35
77	Arg408Trp / E205D	1	0.35
78	Arg408Trp / EX6_IVS6del	1	0.35
79	Arg408Trp / Glu390Gly	1	0.35	landscape
80	Arg408Trp / Glu78Lys	1	0.35
81	Arg408Trp / IVS4+1G>A	1	0.35
82	Arg408Trp / Leu194Pro	1	0.35
83	Arg408Trp / Leu213Pro	1	0.35
84	Arg408Trp / Pro281Leu	1	0.35	landscape
85	Arg408Trp / Thr81Pro	1	0.35
86	Arg408Trp / Val190Ala	1	0.35
87	Arg408Trp / c.929_939del11	1	0.35
88	Arg68Ser / Arg408Gln	1	0.35
89	Arg68Ser / IVS10+3A>G	1	0.35
90	Arg68Ser / IVS10-11G>A	1	0.35
91	Arg68Ser / IVS5+1G>A	1	0.35
92	Asp145Val / Val388Met	1	0.35
93	G352fs / Val177Leu	1	0.35
94	Gln20Term / Arg408Trp	1	0.35
95	Glu280Lys / EX6_IVS6del	1	0.35
96	Glu280Lys / Ile269Leu	1	0.35
97	Glu280Lys / Leu348Val	1	0.35
98	Glu390Gly / IVS12+1G>A	1	0.35
99	Glu76Ala / IVS10-11G>A	1	0.35
100	Gly218Val / Ser349Pro	1	0.35
101	Gly218Val / Tyr414Cys	1	0.35
102	Gly272Term / Arg241His	1	0.35
103	Gly272Term / Arg408Trp	1	0.35
104	His170Asp / Arg261Term	1	0.35
105	His170Asp / His170Asp	1	0.35
106	IVS1+5G>A / His170Asp	1	0.35
107	IVS1+5G>T / IVS1+5G>T	1	0.35
108	IVS10-11G>A / Arg408Trp	1	0.35	landscape
109	IVS10-11G>A / Glu178Gly	1	0.35
110	IVS10-11G>A / Pro366His	1	0.35
111	IVS10-3C>T / Gly272Term	1	0.35
112	IVS10-3C>T / IVS12+1G>A	1	0.35
113	IVS12+1G>A / Arg68Ser	1	0.35	landscape
114	IVS12+1G>A / IVS4+5G>T	1	0.35
115	IVS12+1G>A / Ile65Thr	1	0.35	landscape
116	IVS12+1G>A / Tyr277Asp	1	0.35
117	IVS12+1G>A / Tyr386Cys	1	0.35	landscape
118	IVS2+1G>A / Arg252Trp	1	0.35
119	IVS4+1G>A / Val190Ala	1	0.35
120	IVS4ntg>t / Ala403Val	1	0.35
121	IVS5+1G>A / Arg408Trp	1	0.35
122	IVS7+1G>A / Arg261Gln	1	0.35
123	IVS7+1G>A / IVS7+1G>A	1	0.35
124	IVS7+5G>A / Tyr414Cys	1	0.35
125	IVS8+1G>A / G352>Vfs	1	0.35
126	IVS8+1G>A / Ile65Thr	1	0.35
127	IVS8+1G>A / Leu348Val	1	0.35
128	IVS8+1G>A / Thr81Pro	1	0.35
129	Ile283Phe / Arg408Trp	1	0.35	landscape
130	Ile65Thr / Ala403Val	1	0.35
131	Ile65Thr / E205D	1	0.35
132	Ile65Thr / Glu178Gly	1	0.35
133	Ile65Thr / IVS10-3C>T	1	0.35
134	Ile65Thr / Phe299Cys	1	0.35
135	Leu213Pro / Arg261Term	1	0.35
136	Leu249Phe / Asn167Ile	1	0.35
137	Leu249Phe / IVS10-11G>A	1	0.35
138	Leu311Pro / Tyr386Cys	1	0.35
139	Leu41Pro / E280KE280KE280K	1	0.35
140	Leu48Ser / Arg158Gln	1	0.35	landscape
141	Leu48Ser / Arg261Gln	1	0.35	landscape
142	Leu48Ser / IVS10-11G>A	1	0.35	landscape
143	Leu48Ser / IVS12+1G>A	1	0.35
144	Leu48Ser / Tyr387His	1	0.35
145	Lys320Asn / Leu48Ser	1	0.35
146	N133_Q134>Rfs / Tyr414Cys	1	0.35
147	N133_Q134>Rfs / Val245Leu	1	0.35
148	P211fsdelC / Trp187Term	1	0.35
149	Phe299Cys / Cys334Ser	1	0.35
150	Phe299Cys / Leu48Ser	1	0.35
151	Phe299Cys / Tyr414Cys	1	0.35
152	Phe331Cys / Arg408Trp	1	0.35
153	Phe39L / Phe39L	1	0.35
154	Phe39Leu / F55delT	1	0.35
155	Phe39Leu / F55fdelT	1	0.35
156	Phe39Leu / G272X_x0001_	1	0.35
157	Phe39Leu / Gly272Term	1	0.35
158	Phe39Leu / Phe39Leu	1	0.35
159	Pro175Ala / Ala104Asp	1	0.35
160	Pro275Ser / EX9_EX13del	1	0.35
161	Pro281Leu / Gly218Val	1	0.35
162	Pro281Leu / Ile65Thr	1	0.35
163	Pro281Leu / Leu348Val	1	0.35
164	Pro281Leu / Phe39L	1	0.35
165	Pro281Leu / c.283-285delATC	1	0.35
166	Pro281Leu / p.I94del	1	0.35
167	Pro407Ser / Arg408Trp	1	0.35
168	Ser349Leu / Arg408Trp	1	0.35
169	Ser349Pro / Arg408Trp	1	0.35
170	Ser349Pro / Leu48Ser	1	0.35
171	Thr81Pro / Phe39Leu	1	0.35
172	Tyr277Asp / IVS10-11G>A	1	0.35
173	Tyr277Asp / Ile65Thr	1	0.35
174	Tyr277Asp / Tyr343Cys	1	0.35
175	Tyr414Cys / Arg158Gln	1	0.35	landscape
176	Tyr414Cys / Arg408Gln	1	0.35
177	Tyr414Cys / Asp282Asn	1	0.35
178	Tyr414Cys / Gly272Term	1	0.35
179	Tyr414Cys / I269>Tfs	1	0.35
180	Tyr414Cys / IVS1+5G>T	1	0.35
181	Tyr414Cys / IVS10-11G>A	1	0.35
182	Tyr414Cys / IVS12+1G>A	1	0.35	landscape
183	Tyr414Cys / Tyr414Cys	1	0.35
184	Val177Leu / Phe39Leu	1	0.35
185	Val190Ala / Ile65Thr	1	0.35
186	Val190Ala / p.X453_453+2del	1	0.35
187	Val245Ala / Phe299Cys	1	0.35
188	Val245Glu / Pro281Leu	1	0.35
189	Val245Leu / Tyr414Cys	1	0.35
190	Val388Met / Glu390Gly	1	0.35
191	Val388Met / Val388Met	1	0.35
192	Val388Met / c.47-48delCT	1	0.35
193	c.115-117delTTC / Ala345Ser	1	0.35
194	c.165delT / Gln226His	1	0.35
195	delI94 / IVS12+1G>A	1	0.35
	Total:	286

40 most frequent Genotypes of our database

Armenia

Chile

China

Croatia

Cyprus

Czech Republic

Denmark

Estonia

France

Germany

Iran

Israel

Italy

Lebanon

Lithuania

Northern Ireland

Poland

Portugal

Russia

Serbia

Slovakia

Slovenia

Spain

Sweden

Syria

Turkey

USA