40 most frequent Genotypes of our database

GenotypePatientsFrequency in %
1p.Arg408Trp(;)Arg408Trp 1676 20.98landscape
2p.Arg261Gln(;)Arg408Trp 225 2.82landscape
3p.IVS10-11G>A(;)IVS10-11G>A 224 2.80landscape
4p.IVS12+1G>A(;)Arg408Trp 221 2.77landscape
5p.Arg158Gln(;)Arg408Trp 195 2.44landscape
6p.Arg408Trp(;)IVS10-11G>A 172 2.15landscape
7p.Pro281Leu(;)Arg408Trp 164 2.05
8p.Arg261Gln(;)Arg261Gln 133 1.66landscape
9p.Arg408Trp(;)Tyr414Cys 133 1.66landscape
10p.Ala403Val(;)Arg408Trp 122 1.53landscape
11p.Arg408Trp(;)Arg252Trp 78 0.98landscape
12p.Leu48Ser(;)Arg408Trp 76 0.95landscape
13p.Ala300Ser(;)Arg408Trp 74 0.93landscape
14p.Pro281Leu(;)Pro281Leu 73 0.91landscape
15p.Ile306Val(;)Arg408Trp 65 0.81
16p.Glu390Gly(;)Arg408Trp 61 0.76landscape
17p.Tyr414Cys(;)IVS12+1G>A 60 0.75
18p.Arg408Trp(;)Glu280Lys 58 0.73
19p.Arg261Gln(;)IVS10-11G>A 56 0.70
20p.Arg408Trp(;)Asp222Ter 54 0.68
21p.Arg261Ter(;)Arg261Ter 52 0.65
22p.Leu48Ser(;)Leu48Ser 47 0.59landscape
23p.IVS12+1G>A(;)IVS12+1G>A 44 0.55
24p.IVS4+5G>T(;)Arg408Trp 44 0.55
25p.Arg408Trp(;)Arg243Ter 41 0.51
26p.Arg261Gln(;)IVS12+1G>A 39 0.49
27p.ex5del(;)Arg408Trp 35 0.44
28p.Pro281Leu(;)IVS10-11G>A 32 0.40landscape
29p.Arg408Trp(;)Arg261Ter 32 0.40
30p.IVS10-11G>A(;)Ala300Ser 27 0.34landscape
31p.IVS10-11G>A(;)Leu48Ser 27 0.34landscape
32p.IVS4+5G>T(;)IVS4+5G>T 27 0.34
33p.Arg252Trp(;)Arg252Trp 27 0.34landscape
34p.Ile65Thr(;)Arg408Trp 26 0.33
35p.Ile65Thr(;)IVS10-11G>A 24 0.30landscape
36p.Arg158Gln(;)Arg158Gln 24 0.30
37p.IVS12+1G>A(;)Arg158Gln 23 0.29
38p.Arg408Trp(;)Ser349Pro 23 0.29
39p.Ala403Val(;)IVS10-11G>A 22 0.28
40p.Glu280Lys(;)Glu280Lys 22 0.28
Total:7990

Armenia

patients included from: Kostandyan et al

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

Chile

patients included from: Hamilton et al

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

China

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

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

Croatia

patients included from: Karacic et al

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

Cyprus

patients included from: Georgiou et al

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

Czech Republic

patients included from: Reblova et al

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

Denmark

patients included from: Bayat et al.

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

Estonia

patients included from: Lillevali et al

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

France

patients included from: own dataJeannesson-Thivisol et al

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

Germany

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

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

Iran

patients included from: Zare-Karizi et alBiglari et al

GenotypePatientsFrequency in %
1p.IVS10-11G>A(;)IVS10-11G>A 25 17.36landscape
2p.Arg261Gln(;)Arg261Gln 14 9.72landscape
3p.Pro281Leu(;)Pro281Leu 13 9.03landscape
4p.IVS11+1(;)IVS11+1 9 6.25
5p.Lys363AsnfsTer37(;)Lys363AsnfsTer37 9 6.25
6p.Arg243Ter(;)Arg243Ter 8 5.56
7p.Arg261Ter(;)Arg261Ter 8 5.56
8p.IVS2+5G>C(;)IVS2+5G>C 7 4.86
9p.Arg176Ter(;)Arg176Ter 6 4.17
10p.Arg252Trp(;)Arg252Trp 4 2.78landscape
11p.IVS10-11G>A(;)IVS2+5G>C 3 2.08
12p.Tyr179His(;)Tyr179His 3 2.08
13p.Glu280Lys(;)Glu280Lys 2 1.39
14p.Gly247Asp(;)Gly247Asp 2 1.39
15p.IVS10-11G>A(;)Arg261Gln 2 1.39landscape
16p.IVS10-11G>A(;)IVS11+1 2 1.39
17p.IVS10-11G>A(;)Arg252Trp 2 1.39
18p.Arg261Gln(;)Arg252Trp 2 1.39
19p.Ile283Asn(;)Ile283Asn 1 0.69
20p.IVS10-11G>A(;)IVS9+5G>A 1 0.69
21p.IVS11+1(;)Pro281Leu 1 0.69
22p.IVS2+5G>A(;)IVS2+5G>A 1 0.69
23p.IVS4+5G>T(;)IVS4+5G>T 1 0.69
24p.IVS7+1G>A(;)IVS7+1G>A 1 0.69
25p.Leu194Arg(;)Leu194Arg 1 0.69
26p.Leu333Phe(;)Leu333Phe 1 0.69
27p.Leu365del(;)Leu365del 1 0.69
28p.Leu48Ser(;)IVS2+5G>C 1 0.69
29p.Leu48Ser(;)Leu48Ser 1 0.69landscape
30p.Leu48Ser(;)Arg261Gln 1 0.69landscape
31p.Pro211HisfsTer130(;)Pro211HisfsTer130 1 0.69
32p.Pro281Leu(;)IVS11+1G>C 1 0.69
33p.Pro281Leu(;)Arg408Gln 1 0.69
34p.Arg243Gln(;)Cys357Arg 1 0.69
35p.Arg243Gln(;)IVS2+5G>C 1 0.69
36p.Arg243Ter(;)His201Gln 1 0.69
37p.Arg252Gln(;)Arg252Gln 1 0.69
38p.Arg261Gln(;)Ala300Ser 1 0.69
39p.Arg261Gln(;)Arg261Ter 1 0.69
40p.Arg408Trp(;)IVS10-11G>A 1 0.69landscape
41p.Ser67Pro(;)Arg261Gln 1 0.69
Total:144

Israel

patients included from: Bercovich et al

GenotypePatientsFrequency in %
1p.IVS10-11G>A(;)IVS10-11G>A 13 8.67landscape
2p.IVS2+1G>A(;)IVS2+1G>A 6 4.00
3p.Leu48Ser(;)Leu48Ser 6 4.00landscape
4p.IVS10-11G>A(;)Ala300Ser 5 3.33landscape
5p.ex3 del(;)ex3 del 4 2.67
6p.Ala300Ser(;)Ala403Val 3 2.00
7p.Ala403Val(;)Ala403Val 3 2.00
8p.Phe55LeufsTer6(;)Ala403Val 3 2.00
9p.Phe55LeufsTer6(;)Phe55LeufsTer6 3 2.00
10p.IVS10-11G>A(;)Leu48Ser 3 2.00landscape
11p.IVS4+5G>T(;)IVS4+5G>T 3 2.00
12p.Arg408Trp(;)Arg408Trp 3 2.00landscape
13p.Thr380Met(;)Ala403Val 3 2.00
14p.IVS10-11G>A(;)Ala403Val 2 1.33
15p.IVS10-11G>A(;)Arg408Trp 2 1.33landscape
16p.IVS2+1G>A(;)Ala403Val 2 1.33
17p.IVS4+5G>T(;)Ala395Gly 2 1.33
18p.IVS4+5G>T(;)IVS10-11G>A 2 1.33
19p.IVS4+5G>T(;)Arg261Gln 2 1.33
20p.Leu197Phe(;)Leu197Phe 2 1.33
21p.Leu48Ser(;)Glu178Gly 2 1.33
22p.Leu48Ser(;)Thr380Met 2 1.33
23p.Arg241His(;)Ala300Ser 2 1.33
24p.Arg261Gln(;)Arg261Gln 2 1.33landscape
25p.Arg408Trp(;)Ala300Ser 2 1.33landscape
26p.Arg408Trp(;)Arg241His 2 1.33landscape
27p.Val230Ile(;)Val230Ile 2 1.33
28p.Ala300Ser(;)Ala300Ser 1 0.67
29p.Ala395Gly(;)Ala395Gly 1 0.67
30p.Ala403Val(;)Ile95Phe 1 0.67
31p.Ala403Val(;)Arg169His 1 0.67
32p.Asp17Ter(;)Leu48Ser 1 0.67
33p.Phe39del(;)Val230Ile 1 0.67
34p.His271Gln(;)His271Gln 1 0.67
35p.Ile306Val(;)Phe55Leu 1 0.67
36p.Ile95Phe(;)Thr323del 1 0.67
37p.IVS10+1G>T(;)Leu48Ser 1 0.67
38p.IVS10-11G>A(;)Asp415Asn 1 0.67
39p.IVS10-11G>A(;)His271Gln 1 0.67
40p.IVS10-11G>A(;)Arg252Trp 1 0.67
41p.IVS10-11G>A(;)Arg261Gln 1 0.67landscape
42p.IVS10-11G>A(;)Ser349Pro 1 0.67
43p.IVS10-11G>A(;)Ser436ProfsTer16 1 0.67
44p.IVS10-11G>A(;)Val230Ile 1 0.67
45p.IVS2+1G>A(;)Leu197Phe 1 0.67
46p.IVS2+1G>A(;)Arg261Gln 1 0.67
47p.IVS4+5G>T(;)Ala403Val 1 0.67
48p.IVS4+5G>T(;)Ile174Val 1 0.67
49p.IVS4+5G>T(;)Pro211HisfsTer130 1 0.67
50p.IVS4+5G>T(;)Pro281Leu 1 0.67
51p.IVS4+5G>T(;)Arg158Gln 1 0.67
52p.IVS4+5G>T(;)Arg408Trp 1 0.67
53p.IVS4-5C>G(;)Leu48Ser 1 0.67
54p.IVS4-5C>G(;)Arg261Pro 1 0.67
55p.K363fsX37(;)K363fsX37 1 0.67
56p.K363fsX37(;)Arg408Trp 1 0.67
57p.Leu369Val(;)Thr380Met 1 0.67
58p.Leu48Ser(;)Ala403Val 1 0.67
59p.Pro211HisfsTer130(;)Arg241His 1 0.67
60p.Pro225Thr(;)Pro225Thr 1 0.67
61p.Pro281Leu(;)Ala300Ser 1 0.67landscape
62p.Pro281Leu(;)Ala403Val 1 0.67
63p.Pro281Leu(;)Glu178Gly 1 0.67
64p.Pro281Leu(;)Leu48Ser 1 0.67
65p.Pro281Leu(;)Pro281Leu 1 0.67landscape
66p.Arg158Gln(;)Ile95Phe 1 0.67
67p.Arg176Ter(;)Leu48Ser 1 0.67
68p.Arg241His(;)Arg241His 1 0.67
69p.Arg241His(;)Thr323del 1 0.67
70p.Arg243Ter(;)Ala300Ser 1 0.67
71p.Arg243Ter(;)Arg261Gln 1 0.67
72p.Arg261Gln(;)Ala403Val 1 0.67
73p.Arg261Gln(;)Glu178Gly 1 0.67
74p.Arg261Gln(;)Leu48Ser 1 0.67landscape
75p.Arg408Trp(;)Glu178Gly 1 0.67
76p.Arg408Trp(;)Leu48Ser 1 0.67landscape
77p.Ser349Pro(;)Ala104Asp 1 0.67landscape
78p.Ser349Pro(;)Ala259Val 1 0.67
79p.Ser349Pro(;)Ala300Ser 1 0.67
80p.Ser349Pro(;)Leu48Ser 1 0.67
81p.Ser349Pro(;)Ser349Pro 1 0.67
82p.Ser349Pro(;)Val230Ile 1 0.67
83p.Thr117LysfsTer78(;)Thr117LysfsTer78 1 0.67
84p.Val230Ala(;)Ala300Ser 1 0.67
85p.Val230Ile(;)Ala403Val 1 0.67
86p.Val230Ile(;)Leu369Val 1 0.67
87p.Tyr198Cysfs*136(;)Tyr198Cysfs*136 1 0.67
88p.ex3 del(;)Ala300Ser 1 0.67
89p.ex3 del(;)Ala403Val 1 0.67
90p.ex3 del(;)Arg241His 1 0.67
91p.ex3 del(;)Val230Ile 1 0.67
Total:150

Italy

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

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

Latvia

patients included from: Kreile et al

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

Lebanon

patients included from: Karam et al

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

Lithuania

patients included from: Kasnauskiene et al

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

Northern Ireland

patients included from: Zschocke (personal communication)

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

Poland

patients included from: Bik-Multanowski et al

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

Portugal

patients included from: Rivera et alFerreira et al

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

Romania

patients included from: Gemperle-Britschgi et al

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

Russia

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

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

Serbia

patients included from: Stjiljkovic et alDjordojevic et al

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

Slovakia

patients included from: Polak et al

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

Slovenia

patients included from: Tansek et al

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

Spain

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

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

Sweden

patients included from: Svensson et al

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

Syria

patients included from: Murad et al

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

Turkey

patients included from: Dobrowolski et al

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

USA

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

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