40 most frequent Genotypes of our database

GenotypePatientsFrequency in %
1Arg408Trp / Arg408Trp 755 17.33landscape
2IVS10-11G>A / IVS10-11G>A 167 3.83landscape
3IVS12+1G>A / Arg408Trp 100 2.30landscape
4Arg158Gln / Arg408Trp 99 2.27landscape
5Arg408Trp / IVS10-11G>A 99 2.27landscape
6Arg408Trp / Tyr414Cys 78 1.79landscape
7Arg261Gln / Arg261Gln 74 1.70landscape
8Ala403Val / Arg408Trp 68 1.56landscape
9Arg261Gln / Arg408Trp 67 1.54landscape
10Pro281Leu / Arg408Trp 59 1.35landscape
11Pro281Leu / Pro281Leu 56 1.29landscape
12Ala300Ser / Arg408Trp 43 0.99landscape
13Leu48Ser / Leu48Ser 40 0.92landscape
14IVS12+1G>A / Tyr414Cys 37 0.85landscape
15Ile306Val / Arg408Trp 35 0.80landscape
16Leu48Ser / Arg408Trp 35 0.80landscape
17Arg408Trp / Arg252Trp 30 0.69landscape
18Glu390Gly / Arg408Trp 30 0.69landscape
19IVS12+1G>A / IVS12+1G>A 30 0.69
20Arg261Gln / IVS10-11G>A 26 0.60landscape
21Ile65Thr / Arg408Trp 24 0.55
22Arg252Trp / Arg252Trp 21 0.48landscape
23Arg408Trp / Leu348Val 20 0.46landscape
24IVS10-11G>A / Leu48Ser 20 0.46landscape
25Arg297His / Arg408Trp 19 0.44landscape
26Arg408Trp / Val245Ala 19 0.44landscape
27Pro281Leu / IVS10-11G>A 19 0.44landscape
28IVS10-11G>A / Ala300Ser 18 0.41landscape
29Tyr414Cys / Tyr414Cys 17 0.39
30Arg408Trp / Arg243Term 16 0.37
31Leu48Ser / Arg261Gln 16 0.37landscape
32Leu48Ser / Arg158Gln 15 0.34landscape
33Tyr414Cys / Ile65Thr 15 0.34
34Arg408Trp / Arg241His 14 0.32landscape
35Arg408Trp / Gly272Term 14 0.32
36Asp415Asn / Arg408Trp 14 0.32
37Ile283Phe / Arg408Trp 14 0.32landscape
38Arg158Gln / Arg158Gln 13 0.30
39Arg408Trp / Glu280Lys 13 0.30
40Arg408Trp / Val388Met 13 0.30landscape
Total:4357

Armenia

patients included from: Kostandyan et al

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

Chile

patients included from: Hamilton et al

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

Croatia

patients included from: Karacic et al

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

Cyprus

patients included from: Georgiou et al

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

Czech Republic

patients included from: Reblova et al

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

Denmark

patients included from: Bayat et al.

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

Estonia

patients included from: Lillevali et al

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

France

patients included from: own data

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

Germany

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

GenotypePatientsFrequency in %
1Arg408Trp / Arg408Trp 23 4.66landscape
2Arg158Gln / Arg408Trp 15 3.04landscape
3Arg408Trp / Tyr414Cys 15 3.04landscape
4Arg408Trp / IVS12+1G>A 14 2.83landscape
5IVS10-11G>A / IVS10-11G>A 12 2.43landscape
6Arg408Trp / Arg261Gln 10 2.02landscape
7Arg408Trp / Arg243Term 8 1.62
8Arg408Trp / IVS10-11G>A 8 1.62landscape
9IVS12+1G>A / Tyr414Cys 8 1.62landscape
10Arg261Gln / Arg261Gln 6 1.21landscape
11Arg408Trp / Ala403Val 6 1.21landscape
12Pro281Leu / Arg408Trp 6 1.21landscape
13Ala403Val / IVS12nt1G>A 5 1.01
14Arg158Gln / Arg158Gln 5 1.01
15Arg261Gln / IVS10-11G>A 5 1.01landscape
16Arg408Trp / Leu48Ser 5 1.01landscape
17Arg408Trp / Val245Ala 5 1.01landscape
18Arg261Gln / Arg243Gln 4 0.81
19Arg408Trp / Asn61Asp 4 0.81
20Arg408Trp / IVS12nt1G>A 4 0.81
21Pro281Leu / Pro281Leu 4 0.81landscape
22Tyr414Cys / Arg261Gln 4 0.81
23Ala403Val / IVS10-11G>A 3 0.61
24Arg408Trp / Thr380Met 3 0.61
25IVS10-11G>A / IVS12+1G>A 3 0.61
26IVS10-11G>A / Leu48Ser 3 0.61landscape
27IVS12+1G>A / Arg261Gln 3 0.61
28IVS12+1G>A / IVS12+1G>A 3 0.61
29IVS12nt1G>A / Arg261Gln 3 0.61
30IVS12nt1G>A / R242X 3 0.61
31Ile65Thr / Arg158Gln 3 0.61
32Leu48Ser / Pro281Leu 3 0.61
33Tyr414Cys / IVS12nt1G>A 3 0.61
34Tyr414Cys / Pro281Leu 3 0.61
35Tyr414Cys / Tyr414Cys 3 0.61
36Ala300Ser / Arg261Term 2 0.40
37Ala395Gly / IVS10-11G>A 2 0.40
38Ala403Val / IVS4+5G>T 2 0.40
39Arg158Gln / IVS10-11G>A 2 0.40
40Arg158Gln / Val177Leu 2 0.40
41Arg158Gln / Val245Ala 2 0.40
42Arg243Gln / IVS12+1G>A 2 0.40landscape
43Arg261Gln / Ala300Ser 2 0.40
44Arg261Gln / Glu390Gly 2 0.40
45Arg408Trp / 822-832del 2 0.40
46Arg408Trp / Arg176Term 2 0.40
47Arg408Trp / Arg243Gln 2 0.40
48Arg408Trp / Glu390Gly 2 0.40landscape
49Arg408Trp / Val177Met 2 0.40
50Glu390Gly / I.7+1G>A 2 0.40
51I.2+5G>C / Arg408Trp 2 0.40
52IVS10-11G>A / Arg243Term 2 0.40
53IVS12+1G>A / 663-64delAG 2 0.40
54IVS12+1G>A / Arg243Term 2 0.40
55IVS12+1G>A / Leu48Ser 2 0.40
56IVS12nt1G>A / Arg158Gln 2 0.40
57IVS12nt1G>A / Gly272Term 2 0.40
58IVS12nt1G>A / IVS2nt5G>C 2 0.40
59IVS8+1G>A / IVS8+1G>A 2 0.40
60Ile306Val / Arg408Trp 2 0.40landscape
61Ile65Val / IVS12nt1G>A 2 0.40
62Leu48Ser / Arg241His 2 0.40
63Leu48Ser / Leu48Ser 2 0.40landscape
64Pro281Leu / Asp84Tyr 2 0.40
65Tyr414Cys / Ala403Val 2 0.40
66Tyr414Cys / Arg243Term 2 0.40
67Tyr414Cys / G271X 2 0.40
68Tyr414Cys / Glu390Gly 2 0.40
69Tyr414Cys / Thr380Met 2 0.40landscape
70Tyr417His / Tyr417His 2 0.40
71Val230Ile / Val230Ile 2 0.40
721024delG / IVS12+1G>A 1 0.20
731055delG / Ala104Asp 1 0.20
741055delG / I.1+5G>T 1 0.20
75165delT / Arg68Ser 1 0.20
76165delT / I.10-1G>A 1 0.20
7747-48delCT / 47-48delCT 1 0.20
78558delA / Ala104Asp 1 0.20
79822-832del / Arg241His 1 0.20
80822-832del / Arg261Gln 1 0.20
81929-39del / IVS12+1G>A 1 0.20
82? 1194A>G / Arg408Trp 1 0.20
83Ala104Asp / Leu194Pro 1 0.20
84Ala104Asp / Pro281Leu 1 0.20
85Ala104Asp / Val245Ala 1 0.20
86Ala246Val / Arg408Trp 1 0.20
87Ala300Ser / Ala300Ser 1 0.20
88Ala300Ser / Ala403Val 1 0.20
89Ala300Ser / Arg243Term 1 0.20
90Ala300Ser / I.12+1 1 0.20
91Ala300Ser / I65S/H170Q 1 0.20
92Ala300Ser / IVS4-5C>G 1 0.20
93Ala300Ser / K274fsdel11bp 1 0.20
94Ala300Ser / Phe55Leu 1 0.20
95Ala300Ser / Pro281Leu 1 0.20landscape
96Ala300Ser / Pro366His 1 0.20
97Ala300Ser / Val230Ile 1 0.20
98Ala300Ser / delA184 1 0.20
99Ala395Pro / Arg408Trp 1 0.20
100Ala395Pro / Tyr204Term 1 0.20
101Ala403Val / Ala403Val 1 0.20
102Ala403Val / Arg158Gln 1 0.20
103Ala403Val / Arg243Term 1 0.20
104Ala403Val / Arg252Trp 1 0.20
105Ala403Val / Arg261Gln 1 0.20
106Ala403Val / Gln355Term 1 0.20
107Ala403Val / Glu390Gly 1 0.20
108Ala403Val / Ile174Val 1 0.20
109Ala403Val / Pro281Leu 1 0.20
110Ala403Val / Thr380Met 1 0.20
111Arg158Gln / Ala104Asp 1 0.20
112Arg158Gln / Arg241Cys 1 0.20
113Arg158Gln / Arg261Gln 1 0.20
114Arg158Gln / Glu390Gly 1 0.20
115Arg158Gln / Gly272Term 1 0.20
116Arg158Gln / I.1+5G>T 1 0.20
117Arg158Gln / IVS12+1G>A 1 0.20
118Arg158Trp / Arg408Trp 1 0.20
119Arg158Trp / Tyr414Cys 1 0.20
120Arg176Term / Glu390Gly 1 0.20
121Arg176Term / Tyr414Cys 1 0.20
122Arg176Term / Val245Ala 1 0.20
123Arg252Gln / Arg408Trp 1 0.20
124Arg261Gln / Ala104Asp 1 0.20
125Arg261Gln / Arg243Term 1 0.20
126Arg261Gln / Asn61Asp 1 0.20
127Arg261Gln / Gly272Term 1 0.20
128Arg261Gln / Ile65Val 1 0.20
129Arg261Gln / K274_Y277>Nfs 1 0.20
130Arg261Gln / Pro281Leu 1 0.20
131Arg261Gln / Tyr166Term 1 0.20
132Arg261Gln / Val245Ala 1 0.20
133Arg261Pro / F39del 1 0.20
134Arg261Term / Arg408Trp 1 0.20
135Arg297His / Arg158Gln 1 0.20
136Arg408Gln / Pro281Leu 1 0.20
137Arg408Trp / Arg169His 1 0.20
138Arg408Trp / Arg68Ser 1 0.20
139Arg408Trp / Asp394His 1 0.20
140Arg408Trp / Asp415Asn 1 0.20
141Arg408Trp / F39delTCT 1 0.20
142Arg408Trp / G103D 1 0.20
143Arg408Trp / Glu178Gly 1 0.20
144Arg408Trp / Gly148Ser 1 0.20
145Arg408Trp / Gly272Term 1 0.20
146Arg408Trp / Gly352Arg 1 0.20
147Arg408Trp / I.10+3A>C 1 0.20
148Arg408Trp / IVS11-9G>A 1 0.20
149Arg408Trp / IVS4-5C>G 1 0.20
150Arg408Trp / IVS7nt+1G>A 1 0.20
151Arg408Trp / IVS8nt+1G>A 1 0.20
152Arg408Trp / Ile65Thr 1 0.20
153Arg408Trp / Ile94Ser 1 0.20
154Arg408Trp / K274fsdel11bp 1 0.20
155Arg408Trp / Leu348Val 1 0.20landscape
156Arg408Trp / Phe327Leu 1 0.20
157Arg408Trp / Phe39Leu 1 0.20
158Arg408Trp / Phe410Ser 1 0.20
159Arg408Trp / Phe55Leu 1 0.20
160Arg408Trp / Pro281Arg 1 0.20
161Arg408Trp / Pro281Ser 1 0.20
162Arg408Trp / Pro314Ser 1 0.20
163Arg408Trp / Ser87Arg 1 0.20
164Arg408Trp / Tyr356Term 1 0.20
165Arg408Trp / Val190Ala 1 0.20
166Arg408Trp / Val230Ile 1 0.20
167Arg408Trp / Val388Met 1 0.20landscape
168Arg408Trp / Y177M 1 0.20
169Arg408Trp / delF39115-117 1 0.20
170Arg408Trp / ex6 del 1 0.20
171Arg68Ser / I.2+5G>C 1 0.20
172Asp145Val / Tyr414Cys 1 0.20
173Asp415Asn / Asp415Asn 1 0.20
174Asp415Asn / Glu178Gly 1 0.20
175Asp415Asn / Phe39Leu 1 0.20
176Asp84Tyr / Arg158Gln 1 0.20
177Gln20Term / Gln20Term 1 0.20
178Glu390Gly / ? Del.X11 1 0.20
179Glu390Gly / Gly272Term 1 0.20
180Glu390Gly / I.12+1 1 0.20
181Glu390Gly / Pro281Leu 1 0.20
182Gly239Val / Gly46Ser 1 0.20
183Gly272Term / Asn167Ile 1 0.20
184Gly272Term / Glu178Gly 1 0.20
185Gly344Ser / IVS10-11G>A 1 0.20
186His285Tyr / Arg408Trp 1 0.20
187I.10-1G>A / Glu390Gly 1 0.20
188I.10-3C>T / 47-48delCT 1 0.20
189I.2+5G>C / Gly272Term 1 0.20
190I.2-13T>G / I.2-13T>G 1 0.20
191I.5+1G>A / Ala395Pro 1 0.20
192I.7+1G>A / Arg408Trp 1 0.20
193I.8+1G>A / Gly346Arg 1 0.20
194I94del / Pro281Leu 1 0.20
195I94del / Tyr414Cys 1 0.20
196IVS10-11G>A / 165delT 1 0.20
197IVS10-11G>A / Ala104Asp 1 0.20
198IVS10-11G>A / Leu311Pro 1 0.20
199IVS10-11G>A / Val245Ala 1 0.20
200IVS12+1G>A / Ala403Val 1 0.20
201IVS12+1G>A / Arg241Cys 1 0.20
202IVS12+1G>A / E221_D222>Efs 1 0.20
203IVS12+1G>A / F39del 1 0.20
204IVS12+1G>A / Gly352Arg 1 0.20
205IVS12+1G>A / I.8-7A>G 1 0.20
206IVS12+1G>A / I94del 1 0.20
207IVS12+1G>A / Ser87Arg 1 0.20
208IVS12+1G>A / Tyr204Term 1 0.20
209IVS12nt1G>A / A389P 1 0.20
210IVS12nt1G>A / Asp415Asn 1 0.20
211IVS12nt1G>A / Glu390Gly 1 0.20
212IVS12nt1G>A / Gly148Ser 1 0.20
213IVS12nt1G>A / Gly239Val 1 0.20
214IVS12nt1G>A / IVS12nt1G>A 1 0.20
215IVS12nt1G>A / IVS13+19G>T 1 0.20
216IVS12nt1G>A / IVS4-5C>G 1 0.20
217IVS12nt1G>A / IVS8-7A>G 1 0.20
218IVS12nt1G>A / Leu348Val 1 0.20
219IVS12nt1G>A / Leu48Ser 1 0.20
220IVS12nt1G>A / Phe39Leu 1 0.20
221IVS12nt1G>A / Pro281Leu 1 0.20
222IVS12nt1G>A / Val230Ile 1 0.20
223IVS12nt1G>A / Val245Ala 1 0.20
224IVS12nt1G>A / del ex6 1 0.20
225IVS2-13T>G / IVS2-13T>G 1 0.20
226IVS7+1>a / Arg243Term 1 0.20
227Ile269Asn / IVS12+1G>A 1 0.20
228Ile306Val / D59V 1 0.20
229Ile306Val / I.12+1 1 0.20
230Ile65Thr / Pro281Leu 1 0.20
231Ile65Thr / Tyr414Cys 1 0.20
232Ile65Val / I.12+1 1 0.20
233L15delCT / L15delCT 1 0.20
234Leu311Pro / I.7+5G>A 1 0.20
235Leu348Val / Arg243Gln 1 0.20
236Leu348Val / IVS10-11G>A 1 0.20
237Leu48Ser / Arg158Gln 1 0.20landscape
238Leu48Ser / Arg261Gln 1 0.20landscape
239Leu48Ser / Pro275Arg 1 0.20
240Lys320Asn / I.8-7G 1 0.20
241Lys341Term / Ala403Val 1 0.20
242Phe299Cys / Arg408Trp 1 0.20
243Phe39Leu / Arg252Trp 1 0.20
244Phe39Leu / Arg261Gln 1 0.20
245Phe39Leu / Phe299Cys 1 0.20
246Pro211Thr / Leu48Ser 1 0.20
247Pro225Arg / Arg252Trp 1 0.20
248Pro281Leu / Arg261Term 1 0.20
249Pro281Leu / IVS10-11G>A 1 0.20landscape
250Pro281Leu / IVS12+1G>A 1 0.20
251Pro281Leu / Leu348Val 1 0.20
252Pro281Leu / Phe299Cys 1 0.20
253Pro281Leu / Val245Ala 1 0.20
254Pro366His / I.10-11 1 0.20
255Ser231Pro / Ser231Pro 1 0.20
256Ser295Term / Tyr414Cys 1 0.20
257Ser349Pro / Leu348Val 1 0.20
258Thr380Met / Glu280Lys 1 0.20
259Trp187Term / 1355^56insA 1 0.20
260Trp187Term / Arg261Term 1 0.20
261Tyr166Term / Arg408Trp 1 0.20
262Tyr204Term / Arg252Gly 1 0.20
263Tyr414Cys / Arg158Gln 1 0.20landscape
264Tyr414Cys / Arg243Gln 1 0.20
265Tyr414Cys / Asp415Asn 1 0.20
266Tyr414Cys / F39delT115 1 0.20
267Tyr414Cys / Gly272Term 1 0.20
268Tyr414Cys / I.12+1 1 0.20
269Tyr414Cys / IVS10-11G>A 1 0.20
270Tyr414Cys / Leu48Ser 1 0.20landscape
271Tyr414Cys / N167Y 1 0.20
272Tyr414Cys / Pro275Leu 1 0.20
273Tyr414Cys / S16delCT 1 0.20
274Tyr414Cys / Val245Ala 1 0.20
275Val177Leu / Arg408Trp 1 0.20
276Val230Ile / Glu390Gly 1 0.20
277Y356Stop / V329A 1 0.20
278delF55 / dL94delc.280-282ATC 1 0.20
Total:494

Iran

patients included from: Zare-Karizi et alBiglari et al

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

Israel

patients included from: Bercovich et al

GenotypePatientsFrequency in %
1IVS10-11G>A / IVS10-11G>A 13 8.67landscape
2IVS2+1G>A / IVS2+1G>A 6 4.00
3Leu48Ser / Leu48Ser 6 4.00landscape
4IVS10-11G>A / Ala300Ser 5 3.33landscape
5ex3 del / ex3 del 4 2.67
6Ala300Ser / Ala403Val 3 2.00
7Ala403Val / Ala403Val 3 2.00
8Arg408Trp / Arg408Trp 3 2.00landscape
9F55fsX6 / Ala403Val 3 2.00
10F55fsX6 / F55fsX6 3 2.00
11IVS10-11G>A / Leu48Ser 3 2.00landscape
12IVS4+5G>T / IVS4+5G>T 3 2.00
13Thr380Met / Ala403Val 3 2.00
14Arg241His / Ala300Ser 2 1.33
15Arg261Gln / Arg261Gln 2 1.33landscape
16Arg408Trp / Ala300Ser 2 1.33landscape
17Arg408Trp / Arg241His 2 1.33landscape
18IVS10-11G>A / Ala403Val 2 1.33
19IVS10-11G>A / Arg408Trp 2 1.33landscape
20IVS4+5G>T / Ala395Gly 2 1.33
21IVS4+5G>T / Arg261Gln 2 1.33
22IVS4+5G>T / IVS10-11G>A 2 1.33
23Leu197Phe / Leu197Phe 2 1.33
24Leu48Ser / Glu178Gly 2 1.33
25Leu48Ser / Thr380Met 2 1.33
26Val230Ile / Val230Ile 2 1.33
27Ala300Ser / Ala300Ser 1 0.67
28Ala395Gly / Ala395Gly 1 0.67
29Ala403Val / Arg169His 1 0.67
30Ala403Val / Ile95Phe 1 0.67
31Arg158Gln / Ile95Phe 1 0.67
32Arg176Term / Leu48Ser 1 0.67
33Arg241His / Arg241His 1 0.67
34Arg241His / T323del 1 0.67
35Arg243Term / Ala300Ser 1 0.67
36Arg243Term / Arg261Gln 1 0.67
37Arg261Gln / Ala403Val 1 0.67
38Arg261Gln / Glu178Gly 1 0.67
39Arg261Gln / Leu48Ser 1 0.67landscape
40Arg408Trp / Glu178Gly 1 0.67
41Arg408Trp / Leu48Ser 1 0.67landscape
42D17fsX1 / Leu48Ser 1 0.67
43F39>Sdel / Val230Ile 1 0.67
44His271Gln / His271Gln 1 0.67
45IVS10+1G>T / Leu48Ser 1 0.67
46IVS10-11G>A / Arg252Trp 1 0.67
47IVS10-11G>A / Arg261Gln 1 0.67landscape
48IVS10-11G>A / Asp415Asn 1 0.67
49IVS10-11G>A / His271Gln 1 0.67
50IVS10-11G>A / S436>Pfs 1 0.67
51IVS10-11G>A / Ser349Pro 1 0.67
52IVS10-11G>A / Val230Ile 1 0.67
53IVS2+1G>A / Ala403Val 1 0.67
54IVS2+1G>A / Arg261Gln 1 0.67
55IVS2+1G>A / Leu197Phe 1 0.67
56IVS2-2del / Ala403Val 1 0.67
57IVS4+5G>T / Ala403Val 1 0.67
58IVS4+5G>T / Arg158Gln 1 0.67
59IVS4+5G>T / Arg408Trp 1 0.67
60IVS4+5G>T / Ile174Val 1 0.67
61IVS4+5G>T / P211>Hfs 1 0.67
62IVS4+5G>T / Pro281Leu 1 0.67
63IVS4-5C>G / Arg261Pro 1 0.67
64IVS4-5C>G / Leu48Ser 1 0.67
65Ile306Val / Phe55Leu 1 0.67
66Ile95Phe / T323del 1 0.67
67K363fsX37 / Arg408Trp 1 0.67
68K363fsX37 / K363fsX37 1 0.67
69Leu369Val / Thr380Met 1 0.67
70Leu48Ser / Ala403Val 1 0.67
71P211>Hfs / Arg241His 1 0.67
72Pro225Thr / Pro225Thr 1 0.67
73Pro281Leu / Ala300Ser 1 0.67landscape
74Pro281Leu / Ala403Val 1 0.67
75Pro281Leu / Glu178Gly 1 0.67
76Pro281Leu / Leu48Ser 1 0.67
77Pro281Leu / Pro281Leu 1 0.67landscape
78Ser349Pro / Ala104Asp 1 0.67landscape
79Ser349Pro / Ala259Val 1 0.67
80Ser349Pro / Ala300Ser 1 0.67
81Ser349Pro / Leu48Ser 1 0.67
82Ser349Pro / Ser349Pro 1 0.67
83Ser349Pro / Val230Ile 1 0.67
84T117fsX78 / T117fsX78 1 0.67
85Val230Ala / Ala300Ser 1 0.67
86Val230Ile / Ala403Val 1 0.67
87Val230Ile / Leu369Val 1 0.67
88Y198_E205>Sfs / Y198_E205>Sfs 1 0.67
89ex3 del / Ala300Ser 1 0.67
90ex3 del / Ala403Val 1 0.67
91ex3 del / Arg241His 1 0.67
92ex3 del / Val230Ile 1 0.67
Total:150

Italy

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

GenotypePatientsFrequency in %
1Leu48Ser / Arg261Gln 6 3.30landscape
2Arg261Gln / Arg261Gln 5 2.75landscape
3IVS10-11G>A / Arg261Gln 5 2.75landscape
4IVS10nt546 / Arg261Gln 5 2.75
5IVS10nt546 / IVS10nt546 5 2.75
6Ala403Val / Ala403Val 4 2.20
7Arg261Gln / Pro281Leu 4 2.20
8Leu48Ser / Leu48Ser 4 2.20landscape
9Val245Ala / Ala403Val 4 2.20
10Val245Ala / Arg261Gln 4 2.20
11Arg408Trp / Leu48Ser 3 1.65landscape
12IVS10-11G>A / Pro281Leu 3 1.65landscape
13Pro281Leu / Val245Ala 3 1.65
14Ala403Val / Ala300Ser 2 1.10
15Arg158Gln / Arg261Gln 2 1.10
16Arg261Gln / Arg408Gln 2 1.10
17Arg261Term / IVS10-11G>A 2 1.10
18IVS10-11G>A / Ala403Val 2 1.10
19IVS10-11G>A / Arg243Term 2 1.10
20IVS10-11G>A / IVS10-11G>A 2 1.10landscape
21IVS10nt546 / Arg261Term 2 1.10
22IVS10nt546 / Arg408Trp 2 1.10
23Ile94Ser / Ile94Ser 2 1.10
24Leu48Ser / Arg158Gln 2 1.10landscape
25Pro281Leu / Pro281Leu 2 1.10landscape
26Val245Ala / Arg158Gln 2 1.10
27c.1055delG / c.1055delG 2 1.10
28165delT / 284_286delTCA 1 0.55
29165delT / Asn223Tyr 1 0.55
30165delT / Pro366His 1 0.55
31Ala300Ser / Leu287Val 1 0.55
32Ala403Val / Arg158Gln 1 0.55
33Ala403Val / Glu178Gly 1 0.55
34Ala403Val / T1903I 1 0.55
35Ala403Val / Tyr414Cys 1 0.55
36Ala403Val / Val388Met 1 0.55
37Arg158Gln / Ala104Asp 1 0.55
38Arg158Gln / Arg176Term 1 0.55
39Arg158Gln / Asp338Tyr 1 0.55
40Arg158Gln / Glu178Gly 1 0.55
41Arg158Gln / His201Tyr 1 0.55
42Arg158Gln / IVS10-11G>A 1 0.55
43Arg158Gln / Pro366His 1 0.55
44Arg176Gln / Gly239Ser 1 0.55
45Arg176Term / IVS4+5G>T 1 0.55
46Arg241Cys / Ala403Val 1 0.55
47Arg243Term / F39del 1 0.55
48Arg252Trp / Arg252Trp 1 0.55landscape
49Arg261Gln / Ala300Ser 1 0.55
50Arg261Gln / Arg53His 1 0.55
51Arg261Gln / Met276Val 1 0.55
52Arg261Gln / Tyr386Cys 1 0.55
53Arg261Gln / c.1055delG 1 0.55
54Arg261Gln / c.842+3G>C 1 0.55
55Arg261Term / Ala403Val 1 0.55
56Arg261Term / Leu48Ser 1 0.55
57Arg408Gln / Ala403Val 1 0.55
58Arg408Gln / Arg243Term 1 0.55
59Arg408Gln / Pro281Leu 1 0.55
60Arg408Trp / Arg408Trp 1 0.55landscape
61F39del / Pro366His 1 0.55
62Glu178Gly / Val230Ile 1 0.55
63Glu390Gly / Ala403Val 1 0.55
64Glu390Gly / Arg261Gln 1 0.55
65Gly239Ser / Ile65Val 1 0.55
66Gly272Term / Pro211Thr 1 0.55
67H290Q / Arg261Gln 1 0.55
68I65delT / Ala403Val 1 0.55
69IVS10-11G>A / 47_48delCT 1 0.55
70IVS10-11G>A / Ala300Ser 1 0.55landscape
71IVS10-11G>A / Asp415Asn 1 0.55
72IVS10-11G>A / Glu280Lys 1 0.55
73IVS10-11G>A / Gly46Ser 1 0.55
74IVS10-11G>A / Leu213Pro 1 0.55
75IVS10-11G>A / Pro211Thr 1 0.55
76IVS10-11G>A / Tyr414Cys 1 0.55
77IVS10-11G>A / Val230Ile 1 0.55
78IVS10-11G>A / Val245Ala 1 0.55
79IVS10-11G>A / c.116_118delTCT 1 0.55
80IVS10del546 / Val245Ala 1 0.55
81IVS10nt546 / Gly257Cys 1 0.55
82IVS10nt546 / IVS7nt1 1 0.55
83IVS10nt546 / Leu48Ser 1 0.55
84IVS10nt546 / Pro281Leu 1 0.55
85IVS2+5G>C / Ala300Ser 1 0.55
86IVS4+5G>T / Arg155His 1 0.55
87IVS4-5C>G / IVS10-11G>A 1 0.55
88IVS4-5C>G / IVS4-5C>G 1 0.55
89IVS7+1G>A / Val245Ala 1 0.55
90IVS8-7 A>G / IVS10-11G>A 1 0.55
91Ile65Thr / Ala300Ser 1 0.55
92Ile65Thr / Arg158Gln 1 0.55
93Ile65Thr / IVS10-11G>A 1 0.55landscape
94Ile65Val / Tyr386Cys 1 0.55
95Leu287Val / Arg261Term 1 0.55
96Leu48Ser / Ala403Val 1 0.55
97Leu48Ser / Asp222Gly 1 0.55
98Leu48Ser / Asp415Asn 1 0.55
99Leu48Ser / Gln301Pro 1 0.55
100Leu48Ser / Glu390Gly 1 0.55
101Met276Val / Ala300Ser 1 0.55
102Pro281Leu / Arg297His 1 0.55
103Pro281Leu / I94del. 1 0.55
104Pro281Leu / Thr278Asn 1 0.55
105Pro281Leu / Thr380Met 1 0.55
106Pro281Leu / Trp187Term 1 0.55
107Pro281Leu / Tyr414Cys 1 0.55
108Pro281Leu / c.707-2delA 1 0.55
109S164XfsX1 / IVS10-11G>A 1 0.55
110Ser411Term / Asp415Asn 1 0.55
111Ser67Pro / Thr92Ile 1 0.55
112Ser67Pro / c.1055delG 1 0.55
113Thr380Met / Arg158Gln 1 0.55
114Thr380Met / Val388Met 1 0.55
115Tyr414Cys / Arg261Gln 1 0.55
116Tyr414Cys / IVS4+5G>T 1 0.55
117Val230Ile / Ala403Val 1 0.55
118Val245Ala / 47_48delCT 1 0.55
119Val245Ala / I65delT 1 0.55
120Val245Ala / IVS9+2insT 1 0.55
121Val245Ala / Tyr414Cys 1 0.55
122Y168SfsTer27 / Arg261Term 1 0.55
123Y198_E205>Cfs / Arg261Term 1 0.55
124Y198_E205>Cfs / IVS12+2 T>C 1 0.55
125Y198_E205>Cfs / Tyr414Cys 1 0.55
126c.592_613del22 / c.592_613del22 1 0.55
Total:182

Lebanon

patients included from: Karam et al

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

Lithuania

patients included from: Kasnauskiene et al

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

Northern Ireland

patients included from: Zschocke (personal communication)

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

Poland

patients included from: Bik-Multanowski et al

GenotypePatientsFrequency in %
1Arg408Trp / Arg408Trp 475 39.42landscape
2Arg408Trp / IVS10-11G>A 62 5.15landscape
3Arg408Trp / Arg158Gln 56 4.65landscape
4Ala403Val / Arg408Trp 38 3.15landscape
5Ala300Ser / Arg408Trp 34 2.82landscape
6Arg408Trp / Pro281Leu 34 2.82landscape
7Arg408Trp / IVS12+1G>A 27 2.24landscape
8Arg261Gln / Arg408Trp 26 2.16landscape
9Tyr414Cys / Arg408Trp 26 2.16landscape
10Ile306Val / Arg408Trp 23 1.91landscape
11Arg297His / Arg408Trp 19 1.58landscape
12Arg408Trp / Arg252Trp 18 1.49landscape
13Arg408Trp / g.47563_51794del4232g.56161_56430ins268 13 1.08
14Arg408Trp / Ile283Phe 12 1.00landscape
15Val388Met / Arg408Trp 12 1.00landscape
16Arg241His / Arg408Trp 11 0.91landscape
17Arg408Trp / F55fs 11 0.91
18Leu348Val / Arg408Trp 11 0.91landscape
19Val245Ala / Arg408Trp 10 0.83landscape
20Glu390Gly / Arg408Trp 9 0.75landscape
21Asp415Asn / Arg408Trp 8 0.66
22Arg408Trp / p.K274_Y277Nsf 7 0.58
23Arg243Gln / Arg408Trp 6 0.50
24Arg408Trp / Ser349Pro 6 0.50
25Arg408Trp / Arg243Term 5 0.41
26Arg408Trp / Gly272Term 5 0.41
27IVS10-11G>A / IVS10-11G>A 5 0.41landscape
28Ala104Asp / Arg408Trp 4 0.33
29Ala395Pro / Arg408Trp 4 0.33
30Arg408Trp / IVS7+1G>A 4 0.33
31F39del / Arg408Trp 4 0.33
32IVS10-3C>T / Arg408Trp 4 0.33
33Lys320Asn / Arg408Trp 4 0.33
34Ala300Ser / Arg158Gln 3 0.25
35Ala403Val / IVS10-11G>A 3 0.25
36Arg408Trp / Arg261Term 3 0.25
37Arg408Trp / Arg68Gly 3 0.25
38Arg408Trp / Glu280Lys 3 0.25
39Arg408Trp / IVS4-1G>A 3 0.25
40Arg408Trp / Phe55Leu 3 0.25
41Arg408Trp / Ser67Pro 3 0.25
42Ile306Val / Arg158Gln 3 0.25
43Ala300Ser / Ala395Pro 2 0.17
44Ala309Val / Arg408Trp 2 0.17
45Ala395Pro / Ala395Pro 2 0.17
46Ala403Val / Arg158Gln 2 0.17
47Ala403Val / Pro281Leu 2 0.17
48Arg158Gln / Arg158Gln 2 0.17
49Arg158Gln / IVS12+1G>A 2 0.17
50Arg243Term / g.47563_51794del4232g.56161_56430ins268 2 0.17
51Arg252Trp / Ser349Pro 2 0.17
52Arg252Trp / Ser67Pro 2 0.17
53Arg261Gln / Arg261Gln 2 0.17landscape
54Arg261Gln / IVS12+1G>A 2 0.17
55Arg408Trp / Ala342Pro 2 0.17
56Arg408Trp / D222X 2 0.17
57Arg408Trp / G312D 2 0.17
58Arg408Trp / IVS4+1G>A 2 0.17
59Arg408Trp / IVS4+5G>T 2 0.17
60Arg408Trp / IVS9-2A>C 2 0.17
61Arg408Trp / N133_Q134Rfs 2 0.17
62Arg408Trp / P211L 2 0.17
63Arg408Trp / Tyr277Cys 2 0.17
64Arg408Trp / Tyr386Cys 2 0.17
65Arg68Ser / Arg408Trp 2 0.17
66IVS10-11G>A / Arg252Trp 2 0.17
67IVS10-11G>A / Arg261Term 2 0.17
68IVS10-11G>A / Phe55Leu 2 0.17
69IVS10-11G>A / Pro281Leu 2 0.17landscape
70IVS10-11G>A / S436Pfs 2 0.17
71IVS12+1G>A / A246Vfs 2 0.17
72IVS12+1G>A / IVS12+1G>A 2 0.17
73IVS12+1G>A / Pro281Leu 2 0.17
74IVS7+1G>A / Arg68Gly 2 0.17
75Ile306Val / IVS10-11G>A 2 0.17
76Ile306Val / IVS12+1G>A 2 0.17
77Leu348Val / Arg158Gln 2 0.17
78Leu48Ser / Arg408Trp 2 0.17landscape
79Pro281Leu / Pro281Leu 2 0.17landscape
80Tyr414Cys / IVS10-11G>A 2 0.17
8121560_26324del4765 / 50448_51402del955 1 0.08
8247563_51794del4232 / IVS2+5G>C 1 0.08
8347563_51794del4232 / L424X 1 0.08
84Ala104Asp / IVS4-1G>A 1 0.08
85Ala300Ser / Arg261Gln 1 0.08
86Ala300Ser / F55Lfs 1 0.08
87Ala300Ser / Glu280Lys 1 0.08
88Ala300Ser / IVS10-11G>A 1 0.08landscape
89Ala300Ser / IVS12+1G>A 1 0.08
90Ala300Ser / Ile306Val 1 0.08
91Ala300Ser / Leu48Ser 1 0.08
92Ala300Ser / Pro281Leu 1 0.08landscape
93Ala395Pro / Thr380Met 1 0.08
94Ala403Val / 47563_51794del4232 1 0.08
95Ala403Val / F55Lfs 1 0.08
96Ala403Val / Ile306Val 1 0.08
97Ala403Val / Phe39Leu 1 0.08
98Arg158Gln / Arg261Term 1 0.08
99Arg158Gln / Glu280Lys 1 0.08
100Arg158Gln / IVS10-11G>A 1 0.08
101Arg158Gln / Ile283Phe 1 0.08
102Arg158Gln / N133_Q134Rfs 1 0.08
103Arg158Gln / Pro281Leu 1 0.08
104Arg241Cys / Arg408Trp 1 0.08
105Arg241His / IVS10-11G>A 1 0.08
106Arg243Gln / IVS10-11G>A 1 0.08
107Arg243Gln / IVS2+5G>C 1 0.08
108Arg243Term / A434V 1 0.08
109Arg243Term / Asp315Tyr 1 0.08
110Arg252Trp / 21560_26324del4765 1 0.08
111Arg252Trp / Arg252Trp 1 0.08landscape
112Arg261Gln / Ala395Pro 1 0.08
113Arg261Gln / Arg252Trp 1 0.08
114Arg261Gln / IVS10-11G>A 1 0.08landscape
115Arg261Gln / Phe55Leu 1 0.08
116Arg261Gln / Pro281Leu 1 0.08
117Arg261Gln / Ser349Pro 1 0.08
118Arg297His / Arg297His 1 0.08
119Arg297His / Tyr414Cys 1 0.08
120Arg408Gln / Arg408Trp 1 0.08
121Arg408Trp / 21560_26324del4765 1 0.08
122Arg408Trp / 61933_62732del800insTACTTACCTAT 1 0.08
123Arg408Trp / 64833_71300del6468insTTC 1 0.08
124Arg408Trp / A246Vfs 1 0.08
125Arg408Trp / Arg111Term 1 0.08
126Arg408Trp / Arg270Lys 1 0.08
127Arg408Trp / Arg53His 1 0.08
128Arg408Trp / Asp315Tyr 1 0.08
129Arg408Trp / G307D 1 0.08
130Arg408Trp / Glu183Gln 1 0.08
131Arg408Trp / IVS2+5G>C 1 0.08
132Arg408Trp / IVS3-1G>A 1 0.08
133Arg408Trp / IVS3-1G>C 1 0.08
134Arg408Trp / IVS8-7A>G 1 0.08
135Arg408Trp / L358F 1 0.08
136Arg408Trp / L37P 1 0.08
137Arg408Trp / Pro407Leu 1 0.08
138Arg408Trp / Q383X 1 0.08
139Arg408Trp / T323I 1 0.08
140Arg408Trp / T92Sfs 1 0.08
141Arg408Trp / Thr278Ile 1 0.08
142Arg408Trp / Tyr325Cys 1 0.08
143Arg408Trp / Tyr356Term 1 0.08
144Arg408Trp / V412G 1 0.08
145Arg408Trp / V423Vfs 1 0.08
146Arg413Pro / Arg413Pro 1 0.08
147Asp415Asn / IVS10-11G>A 1 0.08
148F55Lfs / G307D 1 0.08
149Glu178Gly / Arg408Trp 1 0.08
150Glu390Gly / Ile283Phe 1 0.08
151IVS10-11G>A / Arg243Term 1 0.08
152IVS10-11G>A / F55Lfs 1 0.08
153IVS10-11G>A / Glu280Lys 1 0.08
154IVS10-11G>A / Gly272Term 1 0.08
155IVS10-11G>A / T323del 1 0.08
156IVS12+1G>A / 47563_51794del4232 1 0.08
157IVS12+1G>A / Arg243Term 1 0.08
158IVS12+1G>A / IVS4-1G>A 1 0.08
159Ile269Leu / Arg408Trp 1 0.08
160Ile283Phe / Arg261Term 1 0.08
161Ile306Val / Arg261Gln 1 0.08
162Ile306Val / Arg261Term 1 0.08
163Ile306Val / Asp415Asn 1 0.08
164Ile306Val / Ile306Val 1 0.08
165Ile306Val / K274Nfs 1 0.08
166Ile306Val / Leu348Val 1 0.08
167Ile306Val / Pro281Leu 1 0.08
168Ile65Thr / Arg408Trp 1 0.08
169Ile65Thr / Pro225Thr 1 0.08
170Leu348Val / 47563_51794del4232 1 0.08
171Leu348Val / Arg261Term 1 0.08
172Leu348Val / L358F 1 0.08
173Leu348Val / Phe55Leu 1 0.08
174Leu348Val / Pro281Leu 1 0.08
175Leu48Ser / F55Lfs 1 0.08
176Phe39Leu / Ile283Phe 1 0.08
177Phe39Leu / Pro281Leu 1 0.08
178Pro211Thr / Arg408Trp 1 0.08
179Pro281Leu / Ala342Thr 1 0.08
180Ser87Arg / Arg408Trp 1 0.08
181Thr380Met / Arg408Trp 1 0.08
182Tyr277Cys / Leu194Pro 1 0.08
183Tyr414Cys / Arg158Gln 1 0.08landscape
184Tyr414Cys / F55Lfs 1 0.08
185Tyr414Cys / Gly272Term 1 0.08
186Tyr414Cys / IVS7+1G>A 1 0.08
187Tyr414Cys / Ile283Phe 1 0.08
188Tyr414Cys / Tyr414Cys 1 0.08
189Val245Ala / Arg158Gln 1 0.08
Total:1205

Portugal

patients included from: Rivera et al

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

Serbia

patients included from: Stjiljkovic et alDjordojevic et al

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

Slovakia

patients included from: Polak et al

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

Slovenia

patients included from: Tansek et al

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

Spain

patients included from: Couce et alDesviat et alBueno et al

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

Sweden

patients included from: Svensson et al

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

Syria

patients included from: Murad et al

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

Turkey

patients included from: Dobrowolski et al

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

USA

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

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