| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / Arg408Trp |
755 |
17.33 | landscape |
2 | IVS10-11G>A / IVS10-11G>A |
167 |
3.83 | landscape |
3 | IVS12+1G>A / Arg408Trp |
100 |
2.30 | landscape |
4 | Arg158Gln / Arg408Trp |
99 |
2.27 | landscape |
5 | Arg408Trp / IVS10-11G>A |
99 |
2.27 | landscape |
6 | Arg408Trp / Tyr414Cys |
78 |
1.79 | landscape |
7 | Arg261Gln / Arg261Gln |
74 |
1.70 | landscape |
8 | Ala403Val / Arg408Trp |
68 |
1.56 | landscape |
9 | Arg261Gln / Arg408Trp |
67 |
1.54 | landscape |
10 | Pro281Leu / Arg408Trp |
59 |
1.35 | landscape |
11 | Pro281Leu / Pro281Leu |
56 |
1.29 | landscape |
12 | Ala300Ser / Arg408Trp |
43 |
0.99 | landscape |
13 | Leu48Ser / Leu48Ser |
40 |
0.92 | landscape |
14 | IVS12+1G>A / Tyr414Cys |
37 |
0.85 | landscape |
15 | Ile306Val / Arg408Trp |
35 |
0.80 | landscape |
16 | Leu48Ser / Arg408Trp |
35 |
0.80 | landscape |
17 | Arg408Trp / Arg252Trp |
30 |
0.69 | landscape |
18 | Glu390Gly / Arg408Trp |
30 |
0.69 | landscape |
19 | IVS12+1G>A / IVS12+1G>A |
30 |
0.69 |
20 | Arg261Gln / IVS10-11G>A |
26 |
0.60 | landscape |
21 | Ile65Thr / Arg408Trp |
24 |
0.55 |
22 | Arg252Trp / Arg252Trp |
21 |
0.48 | landscape |
23 | Arg408Trp / Leu348Val |
20 |
0.46 | landscape |
24 | IVS10-11G>A / Leu48Ser |
20 |
0.46 | landscape |
25 | Arg297His / Arg408Trp |
19 |
0.44 | landscape |
26 | Arg408Trp / Val245Ala |
19 |
0.44 | landscape |
27 | Pro281Leu / IVS10-11G>A |
19 |
0.44 | landscape |
28 | IVS10-11G>A / Ala300Ser |
18 |
0.41 | landscape |
29 | Tyr414Cys / Tyr414Cys |
17 |
0.39 |
30 | Arg408Trp / Arg243Term |
16 |
0.37 |
31 | Leu48Ser / Arg261Gln |
16 |
0.37 | landscape |
32 | Leu48Ser / Arg158Gln |
15 |
0.34 | landscape |
33 | Tyr414Cys / Ile65Thr |
15 |
0.34 |
34 | Arg408Trp / Arg241His |
14 |
0.32 | landscape |
35 | Arg408Trp / Gly272Term |
14 |
0.32 |
36 | Asp415Asn / Arg408Trp |
14 |
0.32 |
37 | Ile283Phe / Arg408Trp |
14 |
0.32 | landscape |
38 | Arg158Gln / Arg158Gln |
13 |
0.30 |
39 | Arg408Trp / Glu280Lys |
13 |
0.30 |
40 | Arg408Trp / Val388Met |
13 |
0.30 | landscape |
| Total: | 4357 |
patients included from: Kostandyan et al
| Genotype | Patients | Frequency in % |
---|
1 | IVS10-11G>A / IVS10-11G>A |
2 |
8.33 | landscape |
2 | Ala403Val / IVS10-11G>A |
1 |
4.17 |
3 | Arg243Gln / IVS10-11G>A |
1 |
4.17 |
4 | Arg243Gln / Pro281Leu |
1 |
4.17 |
5 | Arg243Term / IVS10-11G>A |
1 |
4.17 |
6 | Arg243Term / Pro281Leu |
1 |
4.17 |
7 | Arg261Gln / IVS10-11G>A |
1 |
4.17 | landscape |
8 | Arg270Lys / Arg243Term |
1 |
4.17 |
9 | Glu390Gly / Arg252Trp |
1 |
4.17 |
10 | IVS10-11G>A / Arg261Term |
1 |
4.17 |
11 | IVS10-11G>A / Arg270Lys |
1 |
4.17 |
12 | IVS10-11G>A / Asp415Asn |
1 |
4.17 |
13 | IVS10-11G>A / W377D |
1 |
4.17 |
14 | IVS10-11G>A / c.1200-2A>G |
1 |
4.17 |
15 | L48S/IVS10-11G>A / Arg261Gln |
1 |
4.17 |
16 | Leu48Ser / Pro279Leu |
1 |
4.17 |
17 | Pro281Leu / Arg408Trp |
1 |
4.17 | landscape |
18 | Pro281Leu / splicing |
1 |
4.17 |
19 | Tyr387His / Arg252Trp |
1 |
4.17 |
20 | c.1089delG, p.Lys363AsnfsX37,del / Glu280Lys |
1 |
4.17 |
21 | c.47_48delCT, p.Ser16XfsX1,del / Asp415Asn |
1 |
4.17 |
22 | c.47_48delCT, p.Ser16XfsX1,del / IVS10-11G>A |
1 |
4.17 |
23 | c.592_613del22, p.Tyr198SerfsX136, del / Arg261Gln |
1 |
4.17 |
| Total: | 24 |
patients included from: Hamilton et al
| Genotype | Patients | Frequency in % |
---|
1 | Val388Met / Val388Met |
4 |
6.35 |
2 | Ex5del / Ex5del |
3 |
4.76 |
3 | IVS10-11G>A / Ex5del |
3 |
4.76 |
4 | IVS10-11G>A / IVS8-7A>G |
3 |
4.76 |
5 | Val388Met / Glu280Lys |
3 |
4.76 |
6 | Arg243Gln / Glu280Lys |
2 |
3.17 |
7 | Arg252Trp / Ex5del |
2 |
3.17 |
8 | Arg261Gln / Val388Met |
2 |
3.17 |
9 | IVS10-11G>A / IVS10-11G>A |
2 |
3.17 | landscape |
10 | IVS10-11G>A / Val388Met |
2 |
3.17 |
11 | IVS10-3C>T / Val388Met |
2 |
3.17 |
12 | IVS4 + 5G>T / Val388Met |
2 |
3.17 |
13 | IVS8-7A>G / Ex5del |
2 |
3.17 |
14 | IVS8-7A>G / Ser349Pro |
2 |
3.17 |
15 | Arg176Leu / Pro281Leu |
1 |
1.59 |
16 | Arg252Trp / IVS10-3C>T |
1 |
1.59 |
17 | Arg252Trp / Pro281Leu |
1 |
1.59 |
18 | Arg252Trp / Val388Met |
1 |
1.59 |
19 | Arg261Gln / Arg243Gln |
1 |
1.59 |
20 | Arg261Gln / Arg261Gln |
1 |
1.59 | landscape |
21 | Arg261Gln / Ex5del |
1 |
1.59 |
22 | Arg261Gln / Glu390Gly |
1 |
1.59 |
23 | Arg261Gln / Pro281Leu |
1 |
1.59 |
24 | Ex5del / IVS11+5G>A |
1 |
1.59 |
25 | Glu280Lys / IVS12+1G>A |
1 |
1.59 |
26 | Glu280Lys / N401_S439del |
1 |
1.59 |
27 | Glu390Gly / IVS2+5G>A |
1 |
1.59 |
28 | IVS10-11G>A / Arg158Gln |
1 |
1.59 |
29 | IVS10-11G>A / IVS10-3C>T |
1 |
1.59 |
30 | IVS10-11G>A / Pro275Arg |
1 |
1.59 |
31 | IVS10-3C>T / IVS4+5G>T |
1 |
1.59 |
32 | IVS10-3C>T / IVS7+1G>A |
1 |
1.59 |
33 | IVS4+5G>T / IVS10-11G>A |
1 |
1.59 |
34 | IVS6-7A>T / IVS6-7A>T |
1 |
1.59 |
35 | IVS8-7A>G / IVS7+1G>A |
1 |
1.59 |
36 | L249Ffs*92 / Val388Met |
1 |
1.59 |
37 | Pro275Arg / Ex5del |
1 |
1.59 |
38 | Pro275Arg / Pro275Arg |
1 |
1.59 |
39 | Pro281Leu / Ex5del |
1 |
1.59 |
40 | R111* / Thr278Asn |
1 |
1.59 |
41 | Thr278Asn / Val388Met |
1 |
1.59 |
42 | Tyr414Cys / Ex5del |
1 |
1.59 |
43 | Val388Met / Ex5del |
1 |
1.59 |
| Total: | 63 |
patients included from: Karacic et al
| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / Arg408Trp |
15 |
19.48 | landscape |
2 | Leu48Ser / Arg408Trp |
8 |
10.39 | landscape |
3 | Glu390Gly / Arg408Trp |
6 |
7.79 | landscape |
4 | Arg158Gln / Arg408Trp |
5 |
6.49 | landscape |
5 | Arg261Gln / Arg408Trp |
5 |
6.49 | landscape |
6 | Pro281Leu / Arg408Trp |
5 |
6.49 | landscape |
7 | IVS12+1G>A / Arg408Trp |
4 |
5.19 | landscape |
8 | Leu48Ser / Arg158Gln |
4 |
5.19 | landscape |
9 | Leu48Ser / Arg261Gln |
4 |
5.19 | landscape |
10 | Pro281Leu / Glu390Gly |
3 |
3.90 |
11 | K363>Nfs / Arg261Gln |
2 |
2.60 |
12 | Leu249Pro / Leu249Pro |
2 |
2.60 |
13 | Leu48Ser / Leu48Ser |
2 |
2.60 | landscape |
14 | Arg408Trp / F39del |
1 |
1.30 |
15 | Arg408Trp / V245A+p.R241C c.734T>C+c.721C>T |
1 |
1.30 |
16 | Glu390Gly / F55Lfs |
1 |
1.30 |
17 | Glu390Gly / Leu249Pro |
1 |
1.30 |
18 | I306A / Arg111Term |
1 |
1.30 |
19 | I306A / Arg261Term |
1 |
1.30 |
20 | I306A / Arg408Trp |
1 |
1.30 |
21 | Leu249Pro / Arg158Gln |
1 |
1.30 |
22 | Leu249Pro / Arg408Trp |
1 |
1.30 |
23 | Leu249Pro / Pro281Leu |
1 |
1.30 |
24 | Leu48Ser / IVS4+5G>T |
1 |
1.30 |
25 | Leu48Ser / Pro281Leu |
1 |
1.30 |
| Total: | 77 |
patients included from: Georgiou et al
| Genotype | Patients | Frequency in % |
---|
1 | Ser70Pro / Arg241His |
2 |
16.67 |
2 | c.168+5G>C / R395G |
2 |
16.67 |
3 | Arg158Gln / Ala300Ser |
1 |
8.33 |
4 | F55fs / Ala403Val |
1 |
8.33 |
5 | Pro225Thr / Glu178Gly |
1 |
8.33 |
6 | c.1066-11G>C / Ala403Val |
1 |
8.33 |
7 | c.1066-11G>C / R395G |
1 |
8.33 |
8 | c.168+5G>C / Glu178Gly |
1 |
8.33 |
9 | ex3 del / Asp222Gly |
1 |
8.33 |
10 | ex3 del / R395G |
1 |
8.33 |
| Total: | 12 |
patients included from: Reblova et al
| Genotype | Patients | Frequency in % |
---|
1 | Ala300Ser / Arg408Trp |
2 |
4.35 | landscape |
2 | Ala403Val / Arg408Trp |
2 |
4.35 | landscape |
3 | Arg158Gln / Pro281Leu |
2 |
4.35 |
4 | Arg408Trp / Gly272Term |
2 |
4.35 |
5 | Asp129Gly / Arg408Trp |
2 |
4.35 |
6 | F55Lfs*6 / Arg408Trp |
2 |
4.35 |
7 | Ile306Val / Arg158Gln |
2 |
4.35 |
8 | Ile65Thr / Arg408Trp |
2 |
4.35 |
9 | Val190Ala / Arg270Lys |
2 |
4.35 |
10 | Ala403Val / ex5 del4232ins268 |
1 |
2.17 |
11 | Arg158Gln / Arg158Gln |
1 |
2.17 |
12 | Arg158Gln / Arg408Trp |
1 |
2.17 | landscape |
13 | Arg408Trp / Arg243Term |
1 |
2.17 |
14 | Arg408Trp / Arg408Trp |
1 |
2.17 | landscape |
15 | Arg408Trp / IVS10-11G>A |
1 |
2.17 | landscape |
16 | Arg408Trp / T186Hfs*9 |
1 |
2.17 |
17 | Arg408Trp / c.1066-3C>T |
1 |
2.17 |
18 | Arg408Trp / c.1315+1G>A |
1 |
2.17 |
19 | Arg408Trp / ex 3 del 4765 |
1 |
2.17 |
20 | Arg408Trp / ex 3 del 955 |
1 |
2.17 |
21 | F39del / ex5 del4232ins268 |
1 |
2.17 |
22 | Glu390Gly / Arg408Trp |
1 |
2.17 | landscape |
23 | Ile283Phe / Arg408Trp |
1 |
2.17 | landscape |
24 | Ile306Val / Arg408Trp |
1 |
2.17 | landscape |
25 | Ile306Val / Gly272Term |
1 |
2.17 |
26 | Ile65Thr / Arg261Gln |
1 |
2.17 |
27 | Leu308Phe / Arg252Trp |
1 |
2.17 |
28 | Leu308Phe / Pro281Leu |
1 |
2.17 |
29 | Leu48Ser / Arg158Gln |
1 |
2.17 | landscape |
30 | Leu48Ser / c.1315+1G>A |
1 |
2.17 |
31 | Lys396Arg / Arg408Trp |
1 |
2.17 |
32 | Phe39Leu / Arg408Trp |
1 |
2.17 |
33 | Pro281Leu / ex5 del4232ins268 |
1 |
2.17 |
34 | Tyr387His / Ala395Pro |
1 |
2.17 |
35 | Tyr414Cys / F263S |
1 |
2.17 |
36 | Tyr414Cys / IVS10-11G>A |
1 |
2.17 |
37 | Tyr414Cys / Tyr414Cys |
1 |
2.17 |
| Total: | 46 |
patients included from: Bayat et al.
| Genotype | Patients | Frequency in % |
---|
1 | IVS12+1G>A / Arg408Trp |
31 |
8.24 | landscape |
2 | IVS12+1G>A / Tyr414Cys |
28 |
7.45 | landscape |
3 | IVS12+1G>A / IVS12+1G>A |
21 |
5.59 |
4 | Arg408Trp / Arg408Trp |
19 |
5.05 | landscape |
5 | Arg408Trp / Tyr414Cys |
13 |
3.46 | landscape |
6 | IVS12+1G>A / IVS10-11G>A |
9 |
2.39 |
7 | Arg408Trp / IVS10-11G>A |
7 |
1.86 | landscape |
8 | IVS12+1G>A / Arg158Gln |
6 |
1.60 |
9 | IVS12+1G>A / Ala104Asp |
5 |
1.33 |
10 | IVS12+1G>A / Glu280Lys |
5 |
1.33 |
11 | Tyr414Cys / Tyr414Cys |
5 |
1.33 |
12 | Arg408Trp / Asp415Asn |
4 |
1.06 |
13 | IVS12+1G>A / Asp415Asn |
4 |
1.06 | landscape |
14 | IVS12+1G>A / Gly46Ser |
4 |
1.06 |
15 | IVS12+1G>A / Ile306Val |
4 |
1.06 |
16 | IVS12+1G>A / Tyr356Term |
4 |
1.06 |
17 | IVS12+1G>A / Val245Ala |
4 |
1.06 |
18 | Ala300Ser / Ala403Val |
3 |
0.80 |
19 | Arg408Trp / Undetected |
3 |
0.80 |
20 | IVS10-11G>A / Tyr386Cys |
3 |
0.80 |
21 | IVS12+1G>A / Arg261Gln |
3 |
0.80 |
22 | IVS12+1G>A / Arg68Ser |
3 |
0.80 | landscape |
23 | IVS12+1G>A / E221D222delAG |
3 |
0.80 |
24 | IVS12+1G>A / Leu348Val |
3 |
0.80 |
25 | Pro281Leu / Tyr414Cys |
3 |
0.80 |
26 | Arg158Gln / Asp282Asn |
2 |
0.53 |
27 | Arg158Gln / IVS10-11G>A |
2 |
0.53 |
28 | Arg158Gln / Phe39Leu |
2 |
0.53 |
29 | Arg408Gln / Ala300Ser |
2 |
0.53 |
30 | Arg408Trp / Ala104Asp |
2 |
0.53 |
31 | Arg408Trp / Arg261Gln |
2 |
0.53 | landscape |
32 | Arg408Trp / Glu390Gly |
2 |
0.53 | landscape |
33 | Arg408Trp / Gly272Term |
2 |
0.53 |
34 | Arg408Trp / Val245Ala |
2 |
0.53 | landscape |
35 | E221D222delAG / Arg408Gln |
2 |
0.53 |
36 | Glu280Lys / Arg408Trp |
2 |
0.53 |
37 | Gly46Ser / Tyr414Cys |
2 |
0.53 |
38 | IVS10-11G>A / IVS10-11G>A |
2 |
0.53 | landscape |
39 | IVS10-11G>A / Tyr414Cys |
2 |
0.53 |
40 | IVS12+1G>A / Asp282Asn |
2 |
0.53 |
41 | IVS12+1G>A / Ile174Thr |
2 |
0.53 |
42 | IVS12+1G>A / Ile65Thr |
2 |
0.53 | landscape |
43 | IVS12+1G>A / Phe39Leu |
2 |
0.53 |
44 | IVS12+1G>A / T63P-H64N |
2 |
0.53 |
45 | IVS12+1G>A / Undetected |
2 |
0.53 |
46 | IVS7+4A>G / Tyr414Cys |
2 |
0.53 |
47 | Ile306Val / Tyr414Cys |
2 |
0.53 |
48 | Phe39Leu / Ile306Val |
2 |
0.53 |
49 | Q261R / Glu182Gly |
2 |
0.53 |
50 | Ser349Ala / Ser349Ala |
2 |
0.53 |
51 | Tyr414Cys / Arg68Ser |
2 |
0.53 |
52 | Tyr414Cys / Glu390Gly |
2 |
0.53 |
53 | Tyr414Cys / IVS10+3A>G |
2 |
0.53 |
54 | Ala104Asp / Tyr414Cys |
1 |
0.27 |
55 | Ala300Ser / Undetected |
1 |
0.27 |
56 | Ala395Gly / Ala403Val |
1 |
0.27 |
57 | Ala403Val / Ala403Val |
1 |
0.27 |
58 | Arg111Term / Pro281Leu |
1 |
0.27 |
59 | Arg158Gln / Ala104Asp |
1 |
0.27 |
60 | Arg158Gln / Asp415Asn |
1 |
0.27 |
61 | Arg158Gln / P244S |
1 |
0.27 |
62 | Arg158Gln / delF39 |
1 |
0.27 |
63 | Arg158Trp / Tyr386Cys |
1 |
0.27 |
64 | Arg243Gln / Ala403Val |
1 |
0.27 |
65 | Arg243Term / Arg243Term |
1 |
0.27 |
66 | Arg243Term / Leu48Ser |
1 |
0.27 |
67 | Arg243Term / Val245Glu |
1 |
0.27 |
68 | Arg252Trp / Arg252Trp |
1 |
0.27 | landscape |
69 | Arg261Gln / Ala403Val |
1 |
0.27 |
70 | Arg261Gln / Glu390Gly |
1 |
0.27 |
71 | Arg261Gln / Ile174Thr |
1 |
0.27 |
72 | Arg261Term / Ile306Val |
1 |
0.27 |
73 | Arg408Gln / Val230Ile |
1 |
0.27 |
74 | Arg408Trp / Ala322Thr |
1 |
0.27 |
75 | Arg408Trp / Ala403Val |
1 |
0.27 | landscape |
76 | Arg408Trp / Arg158Gln |
1 |
0.27 | landscape |
77 | Arg408Trp / Arg176Leu |
1 |
0.27 |
78 | Arg408Trp / Arg241His |
1 |
0.27 | landscape |
79 | Arg408Trp / Asp129Tyr |
1 |
0.27 |
80 | Arg408Trp / E221D222delAG |
1 |
0.27 |
81 | Arg408Trp / Ile65Thr |
1 |
0.27 |
82 | Arg408Trp / Leu348Val |
1 |
0.27 | landscape |
83 | Arg408Trp / S403V |
1 |
0.27 |
84 | Arg408Trp / Ser349Pro |
1 |
0.27 |
85 | Arg408Trp / Ser349Term |
1 |
0.27 |
86 | Arg408Trp / Ser87Arg |
1 |
0.27 |
87 | Arg408Trp / Val177Leu |
1 |
0.27 |
88 | Arg408Trp / c.1315+1G>A |
1 |
0.27 |
89 | Arg408Trp / c.284_286delTCA |
1 |
0.27 |
90 | Asp282Asn / Asp282Asn |
1 |
0.27 |
91 | Asp282Asn / E221D222delAG |
1 |
0.27 |
92 | Asp282Asn / Tyr414Cys |
1 |
0.27 |
93 | Asp282Asn / Undetected |
1 |
0.27 |
94 | E221D222delAG / Glu280Lys |
1 |
0.27 |
95 | E221D222fsdelG / Tyr414Cys |
1 |
0.27 |
96 | Glu178Gly / V245M |
1 |
0.27 |
97 | Glu280Lys / Pro281Leu |
1 |
0.27 |
98 | Glu390Gly / Ala403Val |
1 |
0.27 |
99 | Gly218Val / IVS10-11G>A |
1 |
0.27 |
100 | Gly272Term / Asp282Asn |
1 |
0.27 |
101 | Gly272Term / Asp415Asn |
1 |
0.27 |
102 | Gly272Term / Gly46Ser |
1 |
0.27 |
103 | Gly272Term / Val177Leu |
1 |
0.27 |
104 | IVS1+5G>T / Ala104Asp |
1 |
0.27 |
105 | IVS1+5G>T / Ala322Thr |
1 |
0.27 |
106 | IVS1+5G>T / Arg261Gln |
1 |
0.27 |
107 | IVS1+5G>T / Arg408Trp |
1 |
0.27 |
108 | IVS1+5G>T / Asp415Asn |
1 |
0.27 |
109 | IVS10-11G>A / Ala104Asp |
1 |
0.27 |
110 | IVS10-11G>A / Asp145Val |
1 |
0.27 |
111 | IVS10-11G>A / Glu390Gly |
1 |
0.27 |
112 | IVS10-11G>A / IVS7+1G>A |
1 |
0.27 |
113 | IVS10-11G>A / Leu348Val |
1 |
0.27 |
114 | IVS10-11G>A / Thr380Met |
1 |
0.27 |
115 | IVS10-11G>A / Undetected |
1 |
0.27 |
116 | IVS10-11G>A / c.1-?_168+?del |
1 |
0.27 |
117 | IVS12+1G>A / Ala300Ser |
1 |
0.27 |
118 | IVS12+1G>A / Ala342Thr |
1 |
0.27 |
119 | IVS12+1G>A / Ala395Pro |
1 |
0.27 |
120 | IVS12+1G>A / Ala47Val |
1 |
0.27 |
121 | IVS12+1G>A / Arg111Term |
1 |
0.27 |
122 | IVS12+1G>A / Arg252Trp |
1 |
0.27 |
123 | IVS12+1G>A / F410I |
1 |
0.27 |
124 | IVS12+1G>A / G346fsdelG |
1 |
0.27 |
125 | IVS12+1G>A / Glu390Gly |
1 |
0.27 |
126 | IVS12+1G>A / Gly272Term |
1 |
0.27 |
127 | IVS12+1G>A / IVS1+5G>T |
1 |
0.27 |
128 | IVS12+1G>A / IVS11+4A>G |
1 |
0.27 |
129 | IVS12+1G>A / IVS7+1G>A |
1 |
0.27 |
130 | IVS12+1G>A / K363fsdelG |
1 |
0.27 |
131 | IVS12+1G>A / Leu308Val |
1 |
0.27 |
132 | IVS12+1G>A / Leu48Ser |
1 |
0.27 |
133 | IVS12+1G>A / Pro281Leu |
1 |
0.27 |
134 | IVS12+1G>A / Thr380Met |
1 |
0.27 |
135 | IVS12+1G>A / Val388Met |
1 |
0.27 |
136 | IVS2-13T>G / IVS2-13T>G |
1 |
0.27 |
137 | IVS7+1G>A / Arg408Trp |
1 |
0.27 |
138 | IVS9+5G>A / Ala300Ser |
1 |
0.27 |
139 | Ile224Thr / Ile224Thr |
1 |
0.27 |
140 | Ile283Phe / Asp415Asn |
1 |
0.27 |
141 | Ile306Val / Ile306Val |
1 |
0.27 |
142 | Ile65Thr / Gln336Term |
1 |
0.27 |
143 | Leu333Phe / Ser110Leu |
1 |
0.27 |
144 | Leu348Val / Leu348Val |
1 |
0.27 |
145 | Leu348Val / Thr380Met |
1 |
0.27 |
146 | Leu348Val / Tyr414Cys |
1 |
0.27 |
147 | Leu48Ser / Ala300Ser |
1 |
0.27 |
148 | Leu98Ser / Leu98Ser |
1 |
0.27 |
149 | Phe39Leu / Asp415Asn |
1 |
0.27 |
150 | Phe39Leu / Phe39Leu |
1 |
0.27 |
151 | Phe39Leu / Ser87Arg |
1 |
0.27 |
152 | Phe39Leu / Tyr414Cys |
1 |
0.27 |
153 | Phe410Ser / Ile306Val |
1 |
0.27 |
154 | Pro281Leu / Ala104Asp |
1 |
0.27 |
155 | Pro281Leu / Arg243Term |
1 |
0.27 |
156 | Pro281Leu / IVS8-7A>G |
1 |
0.27 |
157 | Pro281Leu / Pro281Leu |
1 |
0.27 | landscape |
158 | S16fs*2 / Leu48Ser |
1 |
0.27 |
159 | T266E / Arg408Trp |
1 |
0.27 |
160 | Thr124Ile / Leu348Val |
1 |
0.27 |
161 | Thr380Met / Thr380Met |
1 |
0.27 |
162 | Trp120Term / Tyr414Cys |
1 |
0.27 |
163 | Tyr356Term / Asp415Asn |
1 |
0.27 |
164 | Tyr356Term / Tyr414Cys |
1 |
0.27 |
165 | Tyr414Cys / A309T |
1 |
0.27 |
166 | Tyr414Cys / Ala403Val |
1 |
0.27 |
167 | Tyr414Cys / Undetected |
1 |
0.27 |
168 | Tyr414Cys / Val245Ala |
1 |
0.27 |
169 | Val177Leu / Val177Leu |
1 |
0.27 |
170 | Val230Ile / IVS4+5G>T |
1 |
0.27 |
171 | Val230Ile / Tyr414Cys |
1 |
0.27 |
172 | Val245Glu / T63P-H64N |
1 |
0.27 |
173 | c.1241A>G / c.1241A>G |
1 |
0.27 |
174 | c.1315+1G>A / Ala403Val |
1 |
0.27 |
175 | c.1315+1G>A / R158G |
1 |
0.27 |
176 | delF39del / E178K |
1 |
0.27 |
| Total: | 376 |
patients included from: Lillevali et al
| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / Arg408Trp |
58 |
61.70 | landscape |
2 | Arg408Trp / Arg252Trp |
4 |
4.26 | landscape |
3 | Arg408Trp / Arg261Gln |
4 |
4.26 | landscape |
4 | Arg408Trp / Leu48Ser |
4 |
4.26 | landscape |
5 | Arg408Trp / IVS12+1G>A |
3 |
3.19 | landscape |
6 | Arg408Trp / Ala300Ser |
2 |
2.13 | landscape |
7 | Arg408Trp / D222* |
2 |
2.13 |
8 | Arg408Trp / Glu280Lys |
2 |
2.13 |
9 | Arg408Trp / Ile306Val |
2 |
2.13 | landscape |
10 | Arg408Trp / Pro281Leu |
2 |
2.13 | landscape |
11 | Arg408Trp / noDNA |
2 |
2.13 |
12 | noDNA / noDNA |
2 |
2.13 |
13 | Arg158Gln / IVS12+1G>A |
1 |
1.06 |
14 | Arg408Trp / Ala403Val |
1 |
1.06 | landscape |
15 | Arg408Trp / Glu390Gly |
1 |
1.06 | landscape |
16 | Arg408Trp / Ile65Thr |
1 |
1.06 |
17 | Arg408Trp / Q355_T356insGLQ / IVS10-11G>A |
1 |
1.06 |
18 | Arg408Trp / Ser349Pro |
1 |
1.06 |
19 | Leu48Ser / Glu280Lys |
1 |
1.06 |
| Total: | 94 |
patients included from: own data
| Genotype | Patients | Frequency in % |
---|
1 | IVS10-11G>A / IVS10-11G>A |
9 |
9.28 | landscape |
2 | Arg408Trp / Arg408Trp |
8 |
8.25 | landscape |
3 | Ile65Thr / IVS10-11G>A |
8 |
8.25 | landscape |
4 | Arg261Gln / Arg261Gln |
7 |
7.22 | landscape |
5 | Arg261Gln / IVS10-11G>A |
7 |
7.22 | landscape |
6 | Tyr414Cys / c.1315+1G>A |
7 |
7.22 |
7 | Arg261Gln / Arg408Trp |
6 |
6.19 | landscape |
8 | Ala403Val / Arg408Trp |
5 |
5.15 | landscape |
9 | Arg158Gln / IVS10-11G>A |
5 |
5.15 |
10 | Arg261Gln / c.1315+1G>A |
5 |
5.15 |
11 | Arg408Trp / Tyr414Cys |
5 |
5.15 | landscape |
12 | Ile65Thr / Ala403Val |
5 |
5.15 |
13 | Arg408Trp / c.1315+1G>A |
4 |
4.12 |
14 | G352VfsX48 / IVS10-11G>A |
4 |
4.12 |
15 | Ile65Thr / Arg158Gln |
4 |
4.12 |
16 | Ile65Thr / Arg261Gln |
4 |
4.12 |
17 | Leu48Ser / Leu48Ser |
4 |
4.12 | landscape |
| Total: | 97 |
patients included from: Gramer et alown dataZschocke (personal communication)UKMuenster Request
| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / Arg408Trp |
23 |
4.66 | landscape |
2 | Arg158Gln / Arg408Trp |
15 |
3.04 | landscape |
3 | Arg408Trp / Tyr414Cys |
15 |
3.04 | landscape |
4 | Arg408Trp / IVS12+1G>A |
14 |
2.83 | landscape |
5 | IVS10-11G>A / IVS10-11G>A |
12 |
2.43 | landscape |
6 | Arg408Trp / Arg261Gln |
10 |
2.02 | landscape |
7 | Arg408Trp / Arg243Term |
8 |
1.62 |
8 | Arg408Trp / IVS10-11G>A |
8 |
1.62 | landscape |
9 | IVS12+1G>A / Tyr414Cys |
8 |
1.62 | landscape |
10 | Arg261Gln / Arg261Gln |
6 |
1.21 | landscape |
11 | Arg408Trp / Ala403Val |
6 |
1.21 | landscape |
12 | Pro281Leu / Arg408Trp |
6 |
1.21 | landscape |
13 | Ala403Val / IVS12nt1G>A |
5 |
1.01 |
14 | Arg158Gln / Arg158Gln |
5 |
1.01 |
15 | Arg261Gln / IVS10-11G>A |
5 |
1.01 | landscape |
16 | Arg408Trp / Leu48Ser |
5 |
1.01 | landscape |
17 | Arg408Trp / Val245Ala |
5 |
1.01 | landscape |
18 | Arg261Gln / Arg243Gln |
4 |
0.81 |
19 | Arg408Trp / Asn61Asp |
4 |
0.81 |
20 | Arg408Trp / IVS12nt1G>A |
4 |
0.81 |
21 | Pro281Leu / Pro281Leu |
4 |
0.81 | landscape |
22 | Tyr414Cys / Arg261Gln |
4 |
0.81 |
23 | Ala403Val / IVS10-11G>A |
3 |
0.61 |
24 | Arg408Trp / Thr380Met |
3 |
0.61 |
25 | IVS10-11G>A / IVS12+1G>A |
3 |
0.61 |
26 | IVS10-11G>A / Leu48Ser |
3 |
0.61 | landscape |
27 | IVS12+1G>A / Arg261Gln |
3 |
0.61 |
28 | IVS12+1G>A / IVS12+1G>A |
3 |
0.61 |
29 | IVS12nt1G>A / Arg261Gln |
3 |
0.61 |
30 | IVS12nt1G>A / R242X |
3 |
0.61 |
31 | Ile65Thr / Arg158Gln |
3 |
0.61 |
32 | Leu48Ser / Pro281Leu |
3 |
0.61 |
33 | Tyr414Cys / IVS12nt1G>A |
3 |
0.61 |
34 | Tyr414Cys / Pro281Leu |
3 |
0.61 |
35 | Tyr414Cys / Tyr414Cys |
3 |
0.61 |
36 | Ala300Ser / Arg261Term |
2 |
0.40 |
37 | Ala395Gly / IVS10-11G>A |
2 |
0.40 |
38 | Ala403Val / IVS4+5G>T |
2 |
0.40 |
39 | Arg158Gln / IVS10-11G>A |
2 |
0.40 |
40 | Arg158Gln / Val177Leu |
2 |
0.40 |
41 | Arg158Gln / Val245Ala |
2 |
0.40 |
42 | Arg243Gln / IVS12+1G>A |
2 |
0.40 | landscape |
43 | Arg261Gln / Ala300Ser |
2 |
0.40 |
44 | Arg261Gln / Glu390Gly |
2 |
0.40 |
45 | Arg408Trp / 822-832del |
2 |
0.40 |
46 | Arg408Trp / Arg176Term |
2 |
0.40 |
47 | Arg408Trp / Arg243Gln |
2 |
0.40 |
48 | Arg408Trp / Glu390Gly |
2 |
0.40 | landscape |
49 | Arg408Trp / Val177Met |
2 |
0.40 |
50 | Glu390Gly / I.7+1G>A |
2 |
0.40 |
51 | I.2+5G>C / Arg408Trp |
2 |
0.40 |
52 | IVS10-11G>A / Arg243Term |
2 |
0.40 |
53 | IVS12+1G>A / 663-64delAG |
2 |
0.40 |
54 | IVS12+1G>A / Arg243Term |
2 |
0.40 |
55 | IVS12+1G>A / Leu48Ser |
2 |
0.40 |
56 | IVS12nt1G>A / Arg158Gln |
2 |
0.40 |
57 | IVS12nt1G>A / Gly272Term |
2 |
0.40 |
58 | IVS12nt1G>A / IVS2nt5G>C |
2 |
0.40 |
59 | IVS8+1G>A / IVS8+1G>A |
2 |
0.40 |
60 | Ile306Val / Arg408Trp |
2 |
0.40 | landscape |
61 | Ile65Val / IVS12nt1G>A |
2 |
0.40 |
62 | Leu48Ser / Arg241His |
2 |
0.40 |
63 | Leu48Ser / Leu48Ser |
2 |
0.40 | landscape |
64 | Pro281Leu / Asp84Tyr |
2 |
0.40 |
65 | Tyr414Cys / Ala403Val |
2 |
0.40 |
66 | Tyr414Cys / Arg243Term |
2 |
0.40 |
67 | Tyr414Cys / G271X |
2 |
0.40 |
68 | Tyr414Cys / Glu390Gly |
2 |
0.40 |
69 | Tyr414Cys / Thr380Met |
2 |
0.40 | landscape |
70 | Tyr417His / Tyr417His |
2 |
0.40 |
71 | Val230Ile / Val230Ile |
2 |
0.40 |
72 | 1024delG / IVS12+1G>A |
1 |
0.20 |
73 | 1055delG / Ala104Asp |
1 |
0.20 |
74 | 1055delG / I.1+5G>T |
1 |
0.20 |
75 | 165delT / Arg68Ser |
1 |
0.20 |
76 | 165delT / I.10-1G>A |
1 |
0.20 |
77 | 47-48delCT / 47-48delCT |
1 |
0.20 |
78 | 558delA / Ala104Asp |
1 |
0.20 |
79 | 822-832del / Arg241His |
1 |
0.20 |
80 | 822-832del / Arg261Gln |
1 |
0.20 |
81 | 929-39del / IVS12+1G>A |
1 |
0.20 |
82 | ? 1194A>G / Arg408Trp |
1 |
0.20 |
83 | Ala104Asp / Leu194Pro |
1 |
0.20 |
84 | Ala104Asp / Pro281Leu |
1 |
0.20 |
85 | Ala104Asp / Val245Ala |
1 |
0.20 |
86 | Ala246Val / Arg408Trp |
1 |
0.20 |
87 | Ala300Ser / Ala300Ser |
1 |
0.20 |
88 | Ala300Ser / Ala403Val |
1 |
0.20 |
89 | Ala300Ser / Arg243Term |
1 |
0.20 |
90 | Ala300Ser / I.12+1 |
1 |
0.20 |
91 | Ala300Ser / I65S/H170Q |
1 |
0.20 |
92 | Ala300Ser / IVS4-5C>G |
1 |
0.20 |
93 | Ala300Ser / K274fsdel11bp |
1 |
0.20 |
94 | Ala300Ser / Phe55Leu |
1 |
0.20 |
95 | Ala300Ser / Pro281Leu |
1 |
0.20 | landscape |
96 | Ala300Ser / Pro366His |
1 |
0.20 |
97 | Ala300Ser / Val230Ile |
1 |
0.20 |
98 | Ala300Ser / delA184 |
1 |
0.20 |
99 | Ala395Pro / Arg408Trp |
1 |
0.20 |
100 | Ala395Pro / Tyr204Term |
1 |
0.20 |
101 | Ala403Val / Ala403Val |
1 |
0.20 |
102 | Ala403Val / Arg158Gln |
1 |
0.20 |
103 | Ala403Val / Arg243Term |
1 |
0.20 |
104 | Ala403Val / Arg252Trp |
1 |
0.20 |
105 | Ala403Val / Arg261Gln |
1 |
0.20 |
106 | Ala403Val / Gln355Term |
1 |
0.20 |
107 | Ala403Val / Glu390Gly |
1 |
0.20 |
108 | Ala403Val / Ile174Val |
1 |
0.20 |
109 | Ala403Val / Pro281Leu |
1 |
0.20 |
110 | Ala403Val / Thr380Met |
1 |
0.20 |
111 | Arg158Gln / Ala104Asp |
1 |
0.20 |
112 | Arg158Gln / Arg241Cys |
1 |
0.20 |
113 | Arg158Gln / Arg261Gln |
1 |
0.20 |
114 | Arg158Gln / Glu390Gly |
1 |
0.20 |
115 | Arg158Gln / Gly272Term |
1 |
0.20 |
116 | Arg158Gln / I.1+5G>T |
1 |
0.20 |
117 | Arg158Gln / IVS12+1G>A |
1 |
0.20 |
118 | Arg158Trp / Arg408Trp |
1 |
0.20 |
119 | Arg158Trp / Tyr414Cys |
1 |
0.20 |
120 | Arg176Term / Glu390Gly |
1 |
0.20 |
121 | Arg176Term / Tyr414Cys |
1 |
0.20 |
122 | Arg176Term / Val245Ala |
1 |
0.20 |
123 | Arg252Gln / Arg408Trp |
1 |
0.20 |
124 | Arg261Gln / Ala104Asp |
1 |
0.20 |
125 | Arg261Gln / Arg243Term |
1 |
0.20 |
126 | Arg261Gln / Asn61Asp |
1 |
0.20 |
127 | Arg261Gln / Gly272Term |
1 |
0.20 |
128 | Arg261Gln / Ile65Val |
1 |
0.20 |
129 | Arg261Gln / K274_Y277>Nfs |
1 |
0.20 |
130 | Arg261Gln / Pro281Leu |
1 |
0.20 |
131 | Arg261Gln / Tyr166Term |
1 |
0.20 |
132 | Arg261Gln / Val245Ala |
1 |
0.20 |
133 | Arg261Pro / F39del |
1 |
0.20 |
134 | Arg261Term / Arg408Trp |
1 |
0.20 |
135 | Arg297His / Arg158Gln |
1 |
0.20 |
136 | Arg408Gln / Pro281Leu |
1 |
0.20 |
137 | Arg408Trp / Arg169His |
1 |
0.20 |
138 | Arg408Trp / Arg68Ser |
1 |
0.20 |
139 | Arg408Trp / Asp394His |
1 |
0.20 |
140 | Arg408Trp / Asp415Asn |
1 |
0.20 |
141 | Arg408Trp / F39delTCT |
1 |
0.20 |
142 | Arg408Trp / G103D |
1 |
0.20 |
143 | Arg408Trp / Glu178Gly |
1 |
0.20 |
144 | Arg408Trp / Gly148Ser |
1 |
0.20 |
145 | Arg408Trp / Gly272Term |
1 |
0.20 |
146 | Arg408Trp / Gly352Arg |
1 |
0.20 |
147 | Arg408Trp / I.10+3A>C |
1 |
0.20 |
148 | Arg408Trp / IVS11-9G>A |
1 |
0.20 |
149 | Arg408Trp / IVS4-5C>G |
1 |
0.20 |
150 | Arg408Trp / IVS7nt+1G>A |
1 |
0.20 |
151 | Arg408Trp / IVS8nt+1G>A |
1 |
0.20 |
152 | Arg408Trp / Ile65Thr |
1 |
0.20 |
153 | Arg408Trp / Ile94Ser |
1 |
0.20 |
154 | Arg408Trp / K274fsdel11bp |
1 |
0.20 |
155 | Arg408Trp / Leu348Val |
1 |
0.20 | landscape |
156 | Arg408Trp / Phe327Leu |
1 |
0.20 |
157 | Arg408Trp / Phe39Leu |
1 |
0.20 |
158 | Arg408Trp / Phe410Ser |
1 |
0.20 |
159 | Arg408Trp / Phe55Leu |
1 |
0.20 |
160 | Arg408Trp / Pro281Arg |
1 |
0.20 |
161 | Arg408Trp / Pro281Ser |
1 |
0.20 |
162 | Arg408Trp / Pro314Ser |
1 |
0.20 |
163 | Arg408Trp / Ser87Arg |
1 |
0.20 |
164 | Arg408Trp / Tyr356Term |
1 |
0.20 |
165 | Arg408Trp / Val190Ala |
1 |
0.20 |
166 | Arg408Trp / Val230Ile |
1 |
0.20 |
167 | Arg408Trp / Val388Met |
1 |
0.20 | landscape |
168 | Arg408Trp / Y177M |
1 |
0.20 |
169 | Arg408Trp / delF39115-117 |
1 |
0.20 |
170 | Arg408Trp / ex6 del |
1 |
0.20 |
171 | Arg68Ser / I.2+5G>C |
1 |
0.20 |
172 | Asp145Val / Tyr414Cys |
1 |
0.20 |
173 | Asp415Asn / Asp415Asn |
1 |
0.20 |
174 | Asp415Asn / Glu178Gly |
1 |
0.20 |
175 | Asp415Asn / Phe39Leu |
1 |
0.20 |
176 | Asp84Tyr / Arg158Gln |
1 |
0.20 |
177 | Gln20Term / Gln20Term |
1 |
0.20 |
178 | Glu390Gly / ? Del.X11 |
1 |
0.20 |
179 | Glu390Gly / Gly272Term |
1 |
0.20 |
180 | Glu390Gly / I.12+1 |
1 |
0.20 |
181 | Glu390Gly / Pro281Leu |
1 |
0.20 |
182 | Gly239Val / Gly46Ser |
1 |
0.20 |
183 | Gly272Term / Asn167Ile |
1 |
0.20 |
184 | Gly272Term / Glu178Gly |
1 |
0.20 |
185 | Gly344Ser / IVS10-11G>A |
1 |
0.20 |
186 | His285Tyr / Arg408Trp |
1 |
0.20 |
187 | I.10-1G>A / Glu390Gly |
1 |
0.20 |
188 | I.10-3C>T / 47-48delCT |
1 |
0.20 |
189 | I.2+5G>C / Gly272Term |
1 |
0.20 |
190 | I.2-13T>G / I.2-13T>G |
1 |
0.20 |
191 | I.5+1G>A / Ala395Pro |
1 |
0.20 |
192 | I.7+1G>A / Arg408Trp |
1 |
0.20 |
193 | I.8+1G>A / Gly346Arg |
1 |
0.20 |
194 | I94del / Pro281Leu |
1 |
0.20 |
195 | I94del / Tyr414Cys |
1 |
0.20 |
196 | IVS10-11G>A / 165delT |
1 |
0.20 |
197 | IVS10-11G>A / Ala104Asp |
1 |
0.20 |
198 | IVS10-11G>A / Leu311Pro |
1 |
0.20 |
199 | IVS10-11G>A / Val245Ala |
1 |
0.20 |
200 | IVS12+1G>A / Ala403Val |
1 |
0.20 |
201 | IVS12+1G>A / Arg241Cys |
1 |
0.20 |
202 | IVS12+1G>A / E221_D222>Efs |
1 |
0.20 |
203 | IVS12+1G>A / F39del |
1 |
0.20 |
204 | IVS12+1G>A / Gly352Arg |
1 |
0.20 |
205 | IVS12+1G>A / I.8-7A>G |
1 |
0.20 |
206 | IVS12+1G>A / I94del |
1 |
0.20 |
207 | IVS12+1G>A / Ser87Arg |
1 |
0.20 |
208 | IVS12+1G>A / Tyr204Term |
1 |
0.20 |
209 | IVS12nt1G>A / A389P |
1 |
0.20 |
210 | IVS12nt1G>A / Asp415Asn |
1 |
0.20 |
211 | IVS12nt1G>A / Glu390Gly |
1 |
0.20 |
212 | IVS12nt1G>A / Gly148Ser |
1 |
0.20 |
213 | IVS12nt1G>A / Gly239Val |
1 |
0.20 |
214 | IVS12nt1G>A / IVS12nt1G>A |
1 |
0.20 |
215 | IVS12nt1G>A / IVS13+19G>T |
1 |
0.20 |
216 | IVS12nt1G>A / IVS4-5C>G |
1 |
0.20 |
217 | IVS12nt1G>A / IVS8-7A>G |
1 |
0.20 |
218 | IVS12nt1G>A / Leu348Val |
1 |
0.20 |
219 | IVS12nt1G>A / Leu48Ser |
1 |
0.20 |
220 | IVS12nt1G>A / Phe39Leu |
1 |
0.20 |
221 | IVS12nt1G>A / Pro281Leu |
1 |
0.20 |
222 | IVS12nt1G>A / Val230Ile |
1 |
0.20 |
223 | IVS12nt1G>A / Val245Ala |
1 |
0.20 |
224 | IVS12nt1G>A / del ex6 |
1 |
0.20 |
225 | IVS2-13T>G / IVS2-13T>G |
1 |
0.20 |
226 | IVS7+1>a / Arg243Term |
1 |
0.20 |
227 | Ile269Asn / IVS12+1G>A |
1 |
0.20 |
228 | Ile306Val / D59V |
1 |
0.20 |
229 | Ile306Val / I.12+1 |
1 |
0.20 |
230 | Ile65Thr / Pro281Leu |
1 |
0.20 |
231 | Ile65Thr / Tyr414Cys |
1 |
0.20 |
232 | Ile65Val / I.12+1 |
1 |
0.20 |
233 | L15delCT / L15delCT |
1 |
0.20 |
234 | Leu311Pro / I.7+5G>A |
1 |
0.20 |
235 | Leu348Val / Arg243Gln |
1 |
0.20 |
236 | Leu348Val / IVS10-11G>A |
1 |
0.20 |
237 | Leu48Ser / Arg158Gln |
1 |
0.20 | landscape |
238 | Leu48Ser / Arg261Gln |
1 |
0.20 | landscape |
239 | Leu48Ser / Pro275Arg |
1 |
0.20 |
240 | Lys320Asn / I.8-7G |
1 |
0.20 |
241 | Lys341Term / Ala403Val |
1 |
0.20 |
242 | Phe299Cys / Arg408Trp |
1 |
0.20 |
243 | Phe39Leu / Arg252Trp |
1 |
0.20 |
244 | Phe39Leu / Arg261Gln |
1 |
0.20 |
245 | Phe39Leu / Phe299Cys |
1 |
0.20 |
246 | Pro211Thr / Leu48Ser |
1 |
0.20 |
247 | Pro225Arg / Arg252Trp |
1 |
0.20 |
248 | Pro281Leu / Arg261Term |
1 |
0.20 |
249 | Pro281Leu / IVS10-11G>A |
1 |
0.20 | landscape |
250 | Pro281Leu / IVS12+1G>A |
1 |
0.20 |
251 | Pro281Leu / Leu348Val |
1 |
0.20 |
252 | Pro281Leu / Phe299Cys |
1 |
0.20 |
253 | Pro281Leu / Val245Ala |
1 |
0.20 |
254 | Pro366His / I.10-11 |
1 |
0.20 |
255 | Ser231Pro / Ser231Pro |
1 |
0.20 |
256 | Ser295Term / Tyr414Cys |
1 |
0.20 |
257 | Ser349Pro / Leu348Val |
1 |
0.20 |
258 | Thr380Met / Glu280Lys |
1 |
0.20 |
259 | Trp187Term / 1355^56insA |
1 |
0.20 |
260 | Trp187Term / Arg261Term |
1 |
0.20 |
261 | Tyr166Term / Arg408Trp |
1 |
0.20 |
262 | Tyr204Term / Arg252Gly |
1 |
0.20 |
263 | Tyr414Cys / Arg158Gln |
1 |
0.20 | landscape |
264 | Tyr414Cys / Arg243Gln |
1 |
0.20 |
265 | Tyr414Cys / Asp415Asn |
1 |
0.20 |
266 | Tyr414Cys / F39delT115 |
1 |
0.20 |
267 | Tyr414Cys / Gly272Term |
1 |
0.20 |
268 | Tyr414Cys / I.12+1 |
1 |
0.20 |
269 | Tyr414Cys / IVS10-11G>A |
1 |
0.20 |
270 | Tyr414Cys / Leu48Ser |
1 |
0.20 | landscape |
271 | Tyr414Cys / N167Y |
1 |
0.20 |
272 | Tyr414Cys / Pro275Leu |
1 |
0.20 |
273 | Tyr414Cys / S16delCT |
1 |
0.20 |
274 | Tyr414Cys / Val245Ala |
1 |
0.20 |
275 | Val177Leu / Arg408Trp |
1 |
0.20 |
276 | Val230Ile / Glu390Gly |
1 |
0.20 |
277 | Y356Stop / V329A |
1 |
0.20 |
278 | delF55 / dL94delc.280-282ATC |
1 |
0.20 |
| Total: | 494 |
patients included from: Zare-Karizi et alBiglari et al
| Genotype | Patients | Frequency in % |
---|
1 | IVS10-11G>A / IVS10-11G>A |
25 |
17.36 | landscape |
2 | Arg261Gln / Arg261Gln |
14 |
9.72 | landscape |
3 | Pro281Leu / Pro281Leu |
13 |
9.03 | landscape |
4 | IVS11+1 / IVS11+1 |
9 |
6.25 |
5 | K363Nfs / K363Nfs |
9 |
6.25 |
6 | Arg243Term / Arg243Term |
8 |
5.56 |
7 | Arg261Term / Arg261Term |
8 |
5.56 |
8 | Arg176Term / Arg176Term |
6 |
4.17 |
9 | IVS2+5 / IVS2+5 |
6 |
4.17 |
10 | Arg252Trp / Arg252Trp |
4 |
2.78 | landscape |
11 | IVS10-11G>A / IVS2+5 |
3 |
2.08 |
12 | Tyr179His / Tyr179His |
3 |
2.08 |
13 | Arg261Gln / Arg252Trp |
2 |
1.39 |
14 | Glu280Lys / Glu280Lys |
2 |
1.39 |
15 | Gly247Asp / Gly247Asp |
2 |
1.39 |
16 | IVS10 / Arg261Gln |
2 |
1.39 | landscape |
17 | IVS10-11G>A / Arg252Trp |
2 |
1.39 |
18 | IVS10-11G>A / IVS11+1 |
2 |
1.39 |
19 | Arg243Gln / C357R |
1 |
0.69 |
20 | Arg243Gln / IVS2+5 |
1 |
0.69 |
21 | Arg243Term / His201Gln |
1 |
0.69 |
22 | Arg252Gln / Arg252Gln |
1 |
0.69 |
23 | Arg261Gln / Ala300Ser |
1 |
0.69 |
24 | Arg261Gln / Arg261Term |
1 |
0.69 |
25 | Arg408Trp / IVS10-11G>A |
1 |
0.69 | landscape |
26 | IVS10-11G>A / IVS9+5 |
1 |
0.69 |
27 | IVS11+1 / Pro281Leu |
1 |
0.69 |
28 | IVS2+5G>A / IVS2+5G>A |
1 |
0.69 |
29 | IVS2+5G>C / IVS2+5G>C |
1 |
0.69 |
30 | IVS4+5 / IVS4+5 |
1 |
0.69 |
31 | IVS7+1 / IVS7+1 |
1 |
0.69 |
32 | Ile283Asn / Ile283Asn |
1 |
0.69 |
33 | L364del / L364del |
1 |
0.69 |
34 | Leu194Arg / Leu194Arg |
1 |
0.69 |
35 | Leu333Phe / Leu333Phe |
1 |
0.69 |
36 | Leu48Ser / Arg261Gln |
1 |
0.69 | landscape |
37 | Leu48Ser / IVS2+5 |
1 |
0.69 |
38 | Leu48Ser / Leu48Ser |
1 |
0.69 | landscape |
39 | P211>Hisfs / P211>Hisfs |
1 |
0.69 |
40 | Pro281Leu / Arg408Gln |
1 |
0.69 |
41 | Pro281Leu / IVS11+1G>C |
1 |
0.69 |
42 | Ser67Pro / Arg261Gln |
1 |
0.69 |
| Total: | 144 |
patients included from: Bercovich et al
| Genotype | Patients | Frequency in % |
---|
1 | IVS10-11G>A / IVS10-11G>A |
13 |
8.67 | landscape |
2 | IVS2+1G>A / IVS2+1G>A |
6 |
4.00 |
3 | Leu48Ser / Leu48Ser |
6 |
4.00 | landscape |
4 | IVS10-11G>A / Ala300Ser |
5 |
3.33 | landscape |
5 | ex3 del / ex3 del |
4 |
2.67 |
6 | Ala300Ser / Ala403Val |
3 |
2.00 |
7 | Ala403Val / Ala403Val |
3 |
2.00 |
8 | Arg408Trp / Arg408Trp |
3 |
2.00 | landscape |
9 | F55fsX6 / Ala403Val |
3 |
2.00 |
10 | F55fsX6 / F55fsX6 |
3 |
2.00 |
11 | IVS10-11G>A / Leu48Ser |
3 |
2.00 | landscape |
12 | IVS4+5G>T / IVS4+5G>T |
3 |
2.00 |
13 | Thr380Met / Ala403Val |
3 |
2.00 |
14 | Arg241His / Ala300Ser |
2 |
1.33 |
15 | Arg261Gln / Arg261Gln |
2 |
1.33 | landscape |
16 | Arg408Trp / Ala300Ser |
2 |
1.33 | landscape |
17 | Arg408Trp / Arg241His |
2 |
1.33 | landscape |
18 | IVS10-11G>A / Ala403Val |
2 |
1.33 |
19 | IVS10-11G>A / Arg408Trp |
2 |
1.33 | landscape |
20 | IVS4+5G>T / Ala395Gly |
2 |
1.33 |
21 | IVS4+5G>T / Arg261Gln |
2 |
1.33 |
22 | IVS4+5G>T / IVS10-11G>A |
2 |
1.33 |
23 | Leu197Phe / Leu197Phe |
2 |
1.33 |
24 | Leu48Ser / Glu178Gly |
2 |
1.33 |
25 | Leu48Ser / Thr380Met |
2 |
1.33 |
26 | Val230Ile / Val230Ile |
2 |
1.33 |
27 | Ala300Ser / Ala300Ser |
1 |
0.67 |
28 | Ala395Gly / Ala395Gly |
1 |
0.67 |
29 | Ala403Val / Arg169His |
1 |
0.67 |
30 | Ala403Val / Ile95Phe |
1 |
0.67 |
31 | Arg158Gln / Ile95Phe |
1 |
0.67 |
32 | Arg176Term / Leu48Ser |
1 |
0.67 |
33 | Arg241His / Arg241His |
1 |
0.67 |
34 | Arg241His / T323del |
1 |
0.67 |
35 | Arg243Term / Ala300Ser |
1 |
0.67 |
36 | Arg243Term / Arg261Gln |
1 |
0.67 |
37 | Arg261Gln / Ala403Val |
1 |
0.67 |
38 | Arg261Gln / Glu178Gly |
1 |
0.67 |
39 | Arg261Gln / Leu48Ser |
1 |
0.67 | landscape |
40 | Arg408Trp / Glu178Gly |
1 |
0.67 |
41 | Arg408Trp / Leu48Ser |
1 |
0.67 | landscape |
42 | D17fsX1 / Leu48Ser |
1 |
0.67 |
43 | F39>Sdel / Val230Ile |
1 |
0.67 |
44 | His271Gln / His271Gln |
1 |
0.67 |
45 | IVS10+1G>T / Leu48Ser |
1 |
0.67 |
46 | IVS10-11G>A / Arg252Trp |
1 |
0.67 |
47 | IVS10-11G>A / Arg261Gln |
1 |
0.67 | landscape |
48 | IVS10-11G>A / Asp415Asn |
1 |
0.67 |
49 | IVS10-11G>A / His271Gln |
1 |
0.67 |
50 | IVS10-11G>A / S436>Pfs |
1 |
0.67 |
51 | IVS10-11G>A / Ser349Pro |
1 |
0.67 |
52 | IVS10-11G>A / Val230Ile |
1 |
0.67 |
53 | IVS2+1G>A / Ala403Val |
1 |
0.67 |
54 | IVS2+1G>A / Arg261Gln |
1 |
0.67 |
55 | IVS2+1G>A / Leu197Phe |
1 |
0.67 |
56 | IVS2-2del / Ala403Val |
1 |
0.67 |
57 | IVS4+5G>T / Ala403Val |
1 |
0.67 |
58 | IVS4+5G>T / Arg158Gln |
1 |
0.67 |
59 | IVS4+5G>T / Arg408Trp |
1 |
0.67 |
60 | IVS4+5G>T / Ile174Val |
1 |
0.67 |
61 | IVS4+5G>T / P211>Hfs |
1 |
0.67 |
62 | IVS4+5G>T / Pro281Leu |
1 |
0.67 |
63 | IVS4-5C>G / Arg261Pro |
1 |
0.67 |
64 | IVS4-5C>G / Leu48Ser |
1 |
0.67 |
65 | Ile306Val / Phe55Leu |
1 |
0.67 |
66 | Ile95Phe / T323del |
1 |
0.67 |
67 | K363fsX37 / Arg408Trp |
1 |
0.67 |
68 | K363fsX37 / K363fsX37 |
1 |
0.67 |
69 | Leu369Val / Thr380Met |
1 |
0.67 |
70 | Leu48Ser / Ala403Val |
1 |
0.67 |
71 | P211>Hfs / Arg241His |
1 |
0.67 |
72 | Pro225Thr / Pro225Thr |
1 |
0.67 |
73 | Pro281Leu / Ala300Ser |
1 |
0.67 | landscape |
74 | Pro281Leu / Ala403Val |
1 |
0.67 |
75 | Pro281Leu / Glu178Gly |
1 |
0.67 |
76 | Pro281Leu / Leu48Ser |
1 |
0.67 |
77 | Pro281Leu / Pro281Leu |
1 |
0.67 | landscape |
78 | Ser349Pro / Ala104Asp |
1 |
0.67 | landscape |
79 | Ser349Pro / Ala259Val |
1 |
0.67 |
80 | Ser349Pro / Ala300Ser |
1 |
0.67 |
81 | Ser349Pro / Leu48Ser |
1 |
0.67 |
82 | Ser349Pro / Ser349Pro |
1 |
0.67 |
83 | Ser349Pro / Val230Ile |
1 |
0.67 |
84 | T117fsX78 / T117fsX78 |
1 |
0.67 |
85 | Val230Ala / Ala300Ser |
1 |
0.67 |
86 | Val230Ile / Ala403Val |
1 |
0.67 |
87 | Val230Ile / Leu369Val |
1 |
0.67 |
88 | Y198_E205>Sfs / Y198_E205>Sfs |
1 |
0.67 |
89 | ex3 del / Ala300Ser |
1 |
0.67 |
90 | ex3 del / Ala403Val |
1 |
0.67 |
91 | ex3 del / Arg241His |
1 |
0.67 |
92 | ex3 del / Val230Ile |
1 |
0.67 |
| Total: | 150 |
patients included from: Fiori et alDaniele et alGuzetta et alTrunzo et al
| Genotype | Patients | Frequency in % |
---|
1 | Leu48Ser / Arg261Gln |
6 |
3.30 | landscape |
2 | Arg261Gln / Arg261Gln |
5 |
2.75 | landscape |
3 | IVS10-11G>A / Arg261Gln |
5 |
2.75 | landscape |
4 | IVS10nt546 / Arg261Gln |
5 |
2.75 |
5 | IVS10nt546 / IVS10nt546 |
5 |
2.75 |
6 | Ala403Val / Ala403Val |
4 |
2.20 |
7 | Arg261Gln / Pro281Leu |
4 |
2.20 |
8 | Leu48Ser / Leu48Ser |
4 |
2.20 | landscape |
9 | Val245Ala / Ala403Val |
4 |
2.20 |
10 | Val245Ala / Arg261Gln |
4 |
2.20 |
11 | Arg408Trp / Leu48Ser |
3 |
1.65 | landscape |
12 | IVS10-11G>A / Pro281Leu |
3 |
1.65 | landscape |
13 | Pro281Leu / Val245Ala |
3 |
1.65 |
14 | Ala403Val / Ala300Ser |
2 |
1.10 |
15 | Arg158Gln / Arg261Gln |
2 |
1.10 |
16 | Arg261Gln / Arg408Gln |
2 |
1.10 |
17 | Arg261Term / IVS10-11G>A |
2 |
1.10 |
18 | IVS10-11G>A / Ala403Val |
2 |
1.10 |
19 | IVS10-11G>A / Arg243Term |
2 |
1.10 |
20 | IVS10-11G>A / IVS10-11G>A |
2 |
1.10 | landscape |
21 | IVS10nt546 / Arg261Term |
2 |
1.10 |
22 | IVS10nt546 / Arg408Trp |
2 |
1.10 |
23 | Ile94Ser / Ile94Ser |
2 |
1.10 |
24 | Leu48Ser / Arg158Gln |
2 |
1.10 | landscape |
25 | Pro281Leu / Pro281Leu |
2 |
1.10 | landscape |
26 | Val245Ala / Arg158Gln |
2 |
1.10 |
27 | c.1055delG / c.1055delG |
2 |
1.10 |
28 | 165delT / 284_286delTCA |
1 |
0.55 |
29 | 165delT / Asn223Tyr |
1 |
0.55 |
30 | 165delT / Pro366His |
1 |
0.55 |
31 | Ala300Ser / Leu287Val |
1 |
0.55 |
32 | Ala403Val / Arg158Gln |
1 |
0.55 |
33 | Ala403Val / Glu178Gly |
1 |
0.55 |
34 | Ala403Val / T1903I |
1 |
0.55 |
35 | Ala403Val / Tyr414Cys |
1 |
0.55 |
36 | Ala403Val / Val388Met |
1 |
0.55 |
37 | Arg158Gln / Ala104Asp |
1 |
0.55 |
38 | Arg158Gln / Arg176Term |
1 |
0.55 |
39 | Arg158Gln / Asp338Tyr |
1 |
0.55 |
40 | Arg158Gln / Glu178Gly |
1 |
0.55 |
41 | Arg158Gln / His201Tyr |
1 |
0.55 |
42 | Arg158Gln / IVS10-11G>A |
1 |
0.55 |
43 | Arg158Gln / Pro366His |
1 |
0.55 |
44 | Arg176Gln / Gly239Ser |
1 |
0.55 |
45 | Arg176Term / IVS4+5G>T |
1 |
0.55 |
46 | Arg241Cys / Ala403Val |
1 |
0.55 |
47 | Arg243Term / F39del |
1 |
0.55 |
48 | Arg252Trp / Arg252Trp |
1 |
0.55 | landscape |
49 | Arg261Gln / Ala300Ser |
1 |
0.55 |
50 | Arg261Gln / Arg53His |
1 |
0.55 |
51 | Arg261Gln / Met276Val |
1 |
0.55 |
52 | Arg261Gln / Tyr386Cys |
1 |
0.55 |
53 | Arg261Gln / c.1055delG |
1 |
0.55 |
54 | Arg261Gln / c.842+3G>C |
1 |
0.55 |
55 | Arg261Term / Ala403Val |
1 |
0.55 |
56 | Arg261Term / Leu48Ser |
1 |
0.55 |
57 | Arg408Gln / Ala403Val |
1 |
0.55 |
58 | Arg408Gln / Arg243Term |
1 |
0.55 |
59 | Arg408Gln / Pro281Leu |
1 |
0.55 |
60 | Arg408Trp / Arg408Trp |
1 |
0.55 | landscape |
61 | F39del / Pro366His |
1 |
0.55 |
62 | Glu178Gly / Val230Ile |
1 |
0.55 |
63 | Glu390Gly / Ala403Val |
1 |
0.55 |
64 | Glu390Gly / Arg261Gln |
1 |
0.55 |
65 | Gly239Ser / Ile65Val |
1 |
0.55 |
66 | Gly272Term / Pro211Thr |
1 |
0.55 |
67 | H290Q / Arg261Gln |
1 |
0.55 |
68 | I65delT / Ala403Val |
1 |
0.55 |
69 | IVS10-11G>A / 47_48delCT |
1 |
0.55 |
70 | IVS10-11G>A / Ala300Ser |
1 |
0.55 | landscape |
71 | IVS10-11G>A / Asp415Asn |
1 |
0.55 |
72 | IVS10-11G>A / Glu280Lys |
1 |
0.55 |
73 | IVS10-11G>A / Gly46Ser |
1 |
0.55 |
74 | IVS10-11G>A / Leu213Pro |
1 |
0.55 |
75 | IVS10-11G>A / Pro211Thr |
1 |
0.55 |
76 | IVS10-11G>A / Tyr414Cys |
1 |
0.55 |
77 | IVS10-11G>A / Val230Ile |
1 |
0.55 |
78 | IVS10-11G>A / Val245Ala |
1 |
0.55 |
79 | IVS10-11G>A / c.116_118delTCT |
1 |
0.55 |
80 | IVS10del546 / Val245Ala |
1 |
0.55 |
81 | IVS10nt546 / Gly257Cys |
1 |
0.55 |
82 | IVS10nt546 / IVS7nt1 |
1 |
0.55 |
83 | IVS10nt546 / Leu48Ser |
1 |
0.55 |
84 | IVS10nt546 / Pro281Leu |
1 |
0.55 |
85 | IVS2+5G>C / Ala300Ser |
1 |
0.55 |
86 | IVS4+5G>T / Arg155His |
1 |
0.55 |
87 | IVS4-5C>G / IVS10-11G>A |
1 |
0.55 |
88 | IVS4-5C>G / IVS4-5C>G |
1 |
0.55 |
89 | IVS7+1G>A / Val245Ala |
1 |
0.55 |
90 | IVS8-7 A>G / IVS10-11G>A |
1 |
0.55 |
91 | Ile65Thr / Ala300Ser |
1 |
0.55 |
92 | Ile65Thr / Arg158Gln |
1 |
0.55 |
93 | Ile65Thr / IVS10-11G>A |
1 |
0.55 | landscape |
94 | Ile65Val / Tyr386Cys |
1 |
0.55 |
95 | Leu287Val / Arg261Term |
1 |
0.55 |
96 | Leu48Ser / Ala403Val |
1 |
0.55 |
97 | Leu48Ser / Asp222Gly |
1 |
0.55 |
98 | Leu48Ser / Asp415Asn |
1 |
0.55 |
99 | Leu48Ser / Gln301Pro |
1 |
0.55 |
100 | Leu48Ser / Glu390Gly |
1 |
0.55 |
101 | Met276Val / Ala300Ser |
1 |
0.55 |
102 | Pro281Leu / Arg297His |
1 |
0.55 |
103 | Pro281Leu / I94del. |
1 |
0.55 |
104 | Pro281Leu / Thr278Asn |
1 |
0.55 |
105 | Pro281Leu / Thr380Met |
1 |
0.55 |
106 | Pro281Leu / Trp187Term |
1 |
0.55 |
107 | Pro281Leu / Tyr414Cys |
1 |
0.55 |
108 | Pro281Leu / c.707-2delA |
1 |
0.55 |
109 | S164XfsX1 / IVS10-11G>A |
1 |
0.55 |
110 | Ser411Term / Asp415Asn |
1 |
0.55 |
111 | Ser67Pro / Thr92Ile |
1 |
0.55 |
112 | Ser67Pro / c.1055delG |
1 |
0.55 |
113 | Thr380Met / Arg158Gln |
1 |
0.55 |
114 | Thr380Met / Val388Met |
1 |
0.55 |
115 | Tyr414Cys / Arg261Gln |
1 |
0.55 |
116 | Tyr414Cys / IVS4+5G>T |
1 |
0.55 |
117 | Val230Ile / Ala403Val |
1 |
0.55 |
118 | Val245Ala / 47_48delCT |
1 |
0.55 |
119 | Val245Ala / I65delT |
1 |
0.55 |
120 | Val245Ala / IVS9+2insT |
1 |
0.55 |
121 | Val245Ala / Tyr414Cys |
1 |
0.55 |
122 | Y168SfsTer27 / Arg261Term |
1 |
0.55 |
123 | Y198_E205>Cfs / Arg261Term |
1 |
0.55 |
124 | Y198_E205>Cfs / IVS12+2 T>C |
1 |
0.55 |
125 | Y198_E205>Cfs / Tyr414Cys |
1 |
0.55 |
126 | c.592_613del22 / c.592_613del22 |
1 |
0.55 |
| Total: | 182 |
patients included from: Karam et al
| Genotype | Patients | Frequency in % |
---|
1 | G352Vfs / G352Vfs |
3 |
21.43 |
2 | IVS10-11G>A / IVS10-11G>A |
2 |
14.29 | landscape |
3 | P89fs / Ala403Val |
2 |
14.29 |
4 | Arg241Cys / IVS10-11G>A |
1 |
7.14 |
5 | Arg261Gln / Arg261Gln |
1 |
7.14 | landscape |
6 | Arg261Gln / IVS4+5G>T |
1 |
7.14 |
7 | F55fs / F55fs |
1 |
7.14 |
8 | IVS10-11G>A / IVS2+5G>C |
1 |
7.14 |
9 | IVS7+1G>T / IVS7+1G>T |
1 |
7.14 |
10 | P89fs / IVS1+5G>T |
1 |
7.14 |
| Total: | 14 |
patients included from: Kasnauskiene et al
| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / Arg408Trp |
50 |
58.82 | landscape |
2 | Arg158Gln / Arg408Trp |
10 |
11.76 | landscape |
3 | Arg408Trp / Ala403Val |
4 |
4.71 | landscape |
4 | Arg408Trp / Gly272Term |
3 |
3.53 |
5 | Arg408Trp / Glu280Lys |
2 |
2.35 |
6 | Arg158Gln / Arg158Gln |
1 |
1.18 |
7 | Arg158Gln / IVS2-13T>G |
1 |
1.18 |
8 | Arg408Trp / Arg176Term |
1 |
1.18 |
9 | Arg408Trp / Arg261Gln |
1 |
1.18 | landscape |
10 | Arg408Trp / Arg261Term |
1 |
1.18 |
11 | Arg408Trp / E221D222AGdel |
1 |
1.18 |
12 | Arg408Trp / F55fs |
1 |
1.18 |
13 | Arg408Trp / IVS10-11G>A |
1 |
1.18 | landscape |
14 | Arg408Trp / IVS2-13T>G |
1 |
1.18 |
15 | Arg408Trp / Ile306Val |
1 |
1.18 | landscape |
16 | Arg408Trp / L15S16fsCTdel |
1 |
1.18 |
17 | Arg408Trp / Leu311Pro |
1 |
1.18 |
18 | Arg408Trp / Pro281Leu |
1 |
1.18 | landscape |
19 | Arg408Trp / Tyr414Cys |
1 |
1.18 | landscape |
20 | F39del / IVS10-11G>A |
1 |
1.18 |
21 | R211X / Val245Ala |
1 |
1.18 |
| Total: | 85 |
Northern Ireland
patients included from: Zschocke (personal communication)
| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / Ile65Thr |
12 |
10.00 |
2 | Arg408Trp / Arg408Trp |
9 |
7.50 | landscape |
3 | Arg408Trp / Phe39Leu |
6 |
5.00 |
4 | Ile65Thr / Ile65Thr |
6 |
5.00 |
5 | Phe39Leu / Ile65Thr |
5 |
4.17 |
6 | Tyr414Cys / Ile65Thr |
5 |
4.17 |
7 | Arg408Trp / Tyr414Cys |
4 |
3.33 | landscape |
8 | Ile65Thr / Leu348Val |
4 |
3.33 |
9 | Arg408Trp / Leu348Val |
3 |
2.50 | landscape |
10 | Arg243Gln / Arg408Trp |
2 |
1.67 |
11 | Arg252Trp / Arg408Trp |
2 |
1.67 | landscape |
12 | Arg408Gln / Arg408Gln |
2 |
1.67 |
13 | Arg408Gln / Arg408Trp |
2 |
1.67 |
14 | Arg408Trp / Glu280Lys |
2 |
1.67 |
15 | Arg408Trp / Gly46Ser |
2 |
1.67 |
16 | Arg408Trp / Leu249Phe |
2 |
1.67 |
17 | Arg408Trp / Leu333Phe |
2 |
1.67 |
18 | IVS12 / Ile65Thr |
2 |
1.67 | landscape |
19 | Ile65Thr / Phe299Cys |
2 |
1.67 |
20 | Leu348Val / Phe39Leu |
2 |
1.67 |
21 | Phe299Cys / Thr380Met |
2 |
1.67 |
22 | Phe39Leu / Phe299Cys |
2 |
1.67 |
23 | Ser273Phe / Arg408Trp |
2 |
1.67 |
24 | Thr380Met / Ile65Thr |
2 |
1.67 |
25 | Ala300Val / Arg408Trp |
1 |
0.83 |
26 | Arg241Leu / Phe39Leu |
1 |
0.83 |
27 | Arg243Gln / Ile65Thr |
1 |
0.83 |
28 | Arg243Term / Arg243Term |
1 |
0.83 |
29 | Arg243Term / Ser67Pro |
1 |
0.83 |
30 | Arg252Trp / Ile65Thr |
1 |
0.83 |
31 | Arg261Gln / Phe39Leu |
1 |
0.83 |
32 | Arg408Trp / Ala309Asp |
1 |
0.83 |
33 | Arg408Trp / Arg158Gln |
1 |
0.83 | landscape |
34 | Arg408Trp / IVS10 |
1 |
0.83 | landscape |
35 | Arg408Trp / IVS12 |
1 |
0.83 | landscape |
36 | Arg408Trp / IVS8 |
1 |
0.83 |
37 | Arg408Trp / Phe299Cys |
1 |
0.83 |
38 | Glu280Lys / Ala300Ser |
1 |
0.83 |
39 | Glu280Lys / Ile65Thr |
1 |
0.83 |
40 | Gly46Ser / Leu348Val |
1 |
0.83 |
41 | IVS12 / Arg243Term |
1 |
0.83 |
42 | IVS12 / Arg252Trp |
1 |
0.83 |
43 | IVS12 / IVS10 |
1 |
0.83 |
44 | Ile65Thr / IVS10-3 |
1 |
0.83 |
45 | Ile65Thr / Ser349Pro |
1 |
0.83 |
46 | Leu194Pro / Val245Ala |
1 |
0.83 |
47 | Leu348Val / Arg408Gln |
1 |
0.83 |
48 | Leu348Val / Tyr414Cys |
1 |
0.83 |
49 | Phe299Cys / Leu348Val |
1 |
0.83 |
50 | Phe39Leu / Ala309Val |
1 |
0.83 |
51 | Phe39Leu / Arg408Gln |
1 |
0.83 |
52 | Phe39Leu / IVS12 |
1 |
0.83 |
53 | Phe39Leu / Leu249Phe |
1 |
0.83 |
54 | Phe39Leu / Phe39Leu |
1 |
0.83 |
55 | R261Q? / Y386C? |
1 |
0.83 |
56 | Thr380Met / Arg261Gln |
1 |
0.83 |
57 | Thr380Met / Arg408Trp |
1 |
0.83 |
58 | Tyr277Asp / Glu390Gly |
1 |
0.83 |
59 | Tyr414Cys / IVS12 |
1 |
0.83 | landscape |
60 | Tyr414Cys / Phe299Cys |
1 |
0.83 |
| Total: | 120 |
Poland
patients included from: Bik-Multanowski et al
| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / Arg408Trp |
475 |
39.42 | landscape |
2 | Arg408Trp / IVS10-11G>A |
62 |
5.15 | landscape |
3 | Arg408Trp / Arg158Gln |
56 |
4.65 | landscape |
4 | Ala403Val / Arg408Trp |
38 |
3.15 | landscape |
5 | Ala300Ser / Arg408Trp |
34 |
2.82 | landscape |
6 | Arg408Trp / Pro281Leu |
34 |
2.82 | landscape |
7 | Arg408Trp / IVS12+1G>A |
27 |
2.24 | landscape |
8 | Arg261Gln / Arg408Trp |
26 |
2.16 | landscape |
9 | Tyr414Cys / Arg408Trp |
26 |
2.16 | landscape |
10 | Ile306Val / Arg408Trp |
23 |
1.91 | landscape |
11 | Arg297His / Arg408Trp |
19 |
1.58 | landscape |
12 | Arg408Trp / Arg252Trp |
18 |
1.49 | landscape |
13 | Arg408Trp / g.47563_51794del4232g.56161_56430ins268 |
13 |
1.08 |
14 | Arg408Trp / Ile283Phe |
12 |
1.00 | landscape |
15 | Val388Met / Arg408Trp |
12 |
1.00 | landscape |
16 | Arg241His / Arg408Trp |
11 |
0.91 | landscape |
17 | Arg408Trp / F55fs |
11 |
0.91 |
18 | Leu348Val / Arg408Trp |
11 |
0.91 | landscape |
19 | Val245Ala / Arg408Trp |
10 |
0.83 | landscape |
20 | Glu390Gly / Arg408Trp |
9 |
0.75 | landscape |
21 | Asp415Asn / Arg408Trp |
8 |
0.66 |
22 | Arg408Trp / p.K274_Y277Nsf |
7 |
0.58 |
23 | Arg243Gln / Arg408Trp |
6 |
0.50 |
24 | Arg408Trp / Ser349Pro |
6 |
0.50 |
25 | Arg408Trp / Arg243Term |
5 |
0.41 |
26 | Arg408Trp / Gly272Term |
5 |
0.41 |
27 | IVS10-11G>A / IVS10-11G>A |
5 |
0.41 | landscape |
28 | Ala104Asp / Arg408Trp |
4 |
0.33 |
29 | Ala395Pro / Arg408Trp |
4 |
0.33 |
30 | Arg408Trp / IVS7+1G>A |
4 |
0.33 |
31 | F39del / Arg408Trp |
4 |
0.33 |
32 | IVS10-3C>T / Arg408Trp |
4 |
0.33 |
33 | Lys320Asn / Arg408Trp |
4 |
0.33 |
34 | Ala300Ser / Arg158Gln |
3 |
0.25 |
35 | Ala403Val / IVS10-11G>A |
3 |
0.25 |
36 | Arg408Trp / Arg261Term |
3 |
0.25 |
37 | Arg408Trp / Arg68Gly |
3 |
0.25 |
38 | Arg408Trp / Glu280Lys |
3 |
0.25 |
39 | Arg408Trp / IVS4-1G>A |
3 |
0.25 |
40 | Arg408Trp / Phe55Leu |
3 |
0.25 |
41 | Arg408Trp / Ser67Pro |
3 |
0.25 |
42 | Ile306Val / Arg158Gln |
3 |
0.25 |
43 | Ala300Ser / Ala395Pro |
2 |
0.17 |
44 | Ala309Val / Arg408Trp |
2 |
0.17 |
45 | Ala395Pro / Ala395Pro |
2 |
0.17 |
46 | Ala403Val / Arg158Gln |
2 |
0.17 |
47 | Ala403Val / Pro281Leu |
2 |
0.17 |
48 | Arg158Gln / Arg158Gln |
2 |
0.17 |
49 | Arg158Gln / IVS12+1G>A |
2 |
0.17 |
50 | Arg243Term / g.47563_51794del4232g.56161_56430ins268 |
2 |
0.17 |
51 | Arg252Trp / Ser349Pro |
2 |
0.17 |
52 | Arg252Trp / Ser67Pro |
2 |
0.17 |
53 | Arg261Gln / Arg261Gln |
2 |
0.17 | landscape |
54 | Arg261Gln / IVS12+1G>A |
2 |
0.17 |
55 | Arg408Trp / Ala342Pro |
2 |
0.17 |
56 | Arg408Trp / D222X |
2 |
0.17 |
57 | Arg408Trp / G312D |
2 |
0.17 |
58 | Arg408Trp / IVS4+1G>A |
2 |
0.17 |
59 | Arg408Trp / IVS4+5G>T |
2 |
0.17 |
60 | Arg408Trp / IVS9-2A>C |
2 |
0.17 |
61 | Arg408Trp / N133_Q134Rfs |
2 |
0.17 |
62 | Arg408Trp / P211L |
2 |
0.17 |
63 | Arg408Trp / Tyr277Cys |
2 |
0.17 |
64 | Arg408Trp / Tyr386Cys |
2 |
0.17 |
65 | Arg68Ser / Arg408Trp |
2 |
0.17 |
66 | IVS10-11G>A / Arg252Trp |
2 |
0.17 |
67 | IVS10-11G>A / Arg261Term |
2 |
0.17 |
68 | IVS10-11G>A / Phe55Leu |
2 |
0.17 |
69 | IVS10-11G>A / Pro281Leu |
2 |
0.17 | landscape |
70 | IVS10-11G>A / S436Pfs |
2 |
0.17 |
71 | IVS12+1G>A / A246Vfs |
2 |
0.17 |
72 | IVS12+1G>A / IVS12+1G>A |
2 |
0.17 |
73 | IVS12+1G>A / Pro281Leu |
2 |
0.17 |
74 | IVS7+1G>A / Arg68Gly |
2 |
0.17 |
75 | Ile306Val / IVS10-11G>A |
2 |
0.17 |
76 | Ile306Val / IVS12+1G>A |
2 |
0.17 |
77 | Leu348Val / Arg158Gln |
2 |
0.17 |
78 | Leu48Ser / Arg408Trp |
2 |
0.17 | landscape |
79 | Pro281Leu / Pro281Leu |
2 |
0.17 | landscape |
80 | Tyr414Cys / IVS10-11G>A |
2 |
0.17 |
81 | 21560_26324del4765 / 50448_51402del955 |
1 |
0.08 |
82 | 47563_51794del4232 / IVS2+5G>C |
1 |
0.08 |
83 | 47563_51794del4232 / L424X |
1 |
0.08 |
84 | Ala104Asp / IVS4-1G>A |
1 |
0.08 |
85 | Ala300Ser / Arg261Gln |
1 |
0.08 |
86 | Ala300Ser / F55Lfs |
1 |
0.08 |
87 | Ala300Ser / Glu280Lys |
1 |
0.08 |
88 | Ala300Ser / IVS10-11G>A |
1 |
0.08 | landscape |
89 | Ala300Ser / IVS12+1G>A |
1 |
0.08 |
90 | Ala300Ser / Ile306Val |
1 |
0.08 |
91 | Ala300Ser / Leu48Ser |
1 |
0.08 |
92 | Ala300Ser / Pro281Leu |
1 |
0.08 | landscape |
93 | Ala395Pro / Thr380Met |
1 |
0.08 |
94 | Ala403Val / 47563_51794del4232 |
1 |
0.08 |
95 | Ala403Val / F55Lfs |
1 |
0.08 |
96 | Ala403Val / Ile306Val |
1 |
0.08 |
97 | Ala403Val / Phe39Leu |
1 |
0.08 |
98 | Arg158Gln / Arg261Term |
1 |
0.08 |
99 | Arg158Gln / Glu280Lys |
1 |
0.08 |
100 | Arg158Gln / IVS10-11G>A |
1 |
0.08 |
101 | Arg158Gln / Ile283Phe |
1 |
0.08 |
102 | Arg158Gln / N133_Q134Rfs |
1 |
0.08 |
103 | Arg158Gln / Pro281Leu |
1 |
0.08 |
104 | Arg241Cys / Arg408Trp |
1 |
0.08 |
105 | Arg241His / IVS10-11G>A |
1 |
0.08 |
106 | Arg243Gln / IVS10-11G>A |
1 |
0.08 |
107 | Arg243Gln / IVS2+5G>C |
1 |
0.08 |
108 | Arg243Term / A434V |
1 |
0.08 |
109 | Arg243Term / Asp315Tyr |
1 |
0.08 |
110 | Arg252Trp / 21560_26324del4765 |
1 |
0.08 |
111 | Arg252Trp / Arg252Trp |
1 |
0.08 | landscape |
112 | Arg261Gln / Ala395Pro |
1 |
0.08 |
113 | Arg261Gln / Arg252Trp |
1 |
0.08 |
114 | Arg261Gln / IVS10-11G>A |
1 |
0.08 | landscape |
115 | Arg261Gln / Phe55Leu |
1 |
0.08 |
116 | Arg261Gln / Pro281Leu |
1 |
0.08 |
117 | Arg261Gln / Ser349Pro |
1 |
0.08 |
118 | Arg297His / Arg297His |
1 |
0.08 |
119 | Arg297His / Tyr414Cys |
1 |
0.08 |
120 | Arg408Gln / Arg408Trp |
1 |
0.08 |
121 | Arg408Trp / 21560_26324del4765 |
1 |
0.08 |
122 | Arg408Trp / 61933_62732del800insTACTTACCTAT |
1 |
0.08 |
123 | Arg408Trp / 64833_71300del6468insTTC |
1 |
0.08 |
124 | Arg408Trp / A246Vfs |
1 |
0.08 |
125 | Arg408Trp / Arg111Term |
1 |
0.08 |
126 | Arg408Trp / Arg270Lys |
1 |
0.08 |
127 | Arg408Trp / Arg53His |
1 |
0.08 |
128 | Arg408Trp / Asp315Tyr |
1 |
0.08 |
129 | Arg408Trp / G307D |
1 |
0.08 |
130 | Arg408Trp / Glu183Gln |
1 |
0.08 |
131 | Arg408Trp / IVS2+5G>C |
1 |
0.08 |
132 | Arg408Trp / IVS3-1G>A |
1 |
0.08 |
133 | Arg408Trp / IVS3-1G>C |
1 |
0.08 |
134 | Arg408Trp / IVS8-7A>G |
1 |
0.08 |
135 | Arg408Trp / L358F |
1 |
0.08 |
136 | Arg408Trp / L37P |
1 |
0.08 |
137 | Arg408Trp / Pro407Leu |
1 |
0.08 |
138 | Arg408Trp / Q383X |
1 |
0.08 |
139 | Arg408Trp / T323I |
1 |
0.08 |
140 | Arg408Trp / T92Sfs |
1 |
0.08 |
141 | Arg408Trp / Thr278Ile |
1 |
0.08 |
142 | Arg408Trp / Tyr325Cys |
1 |
0.08 |
143 | Arg408Trp / Tyr356Term |
1 |
0.08 |
144 | Arg408Trp / V412G |
1 |
0.08 |
145 | Arg408Trp / V423Vfs |
1 |
0.08 |
146 | Arg413Pro / Arg413Pro |
1 |
0.08 |
147 | Asp415Asn / IVS10-11G>A |
1 |
0.08 |
148 | F55Lfs / G307D |
1 |
0.08 |
149 | Glu178Gly / Arg408Trp |
1 |
0.08 |
150 | Glu390Gly / Ile283Phe |
1 |
0.08 |
151 | IVS10-11G>A / Arg243Term |
1 |
0.08 |
152 | IVS10-11G>A / F55Lfs |
1 |
0.08 |
153 | IVS10-11G>A / Glu280Lys |
1 |
0.08 |
154 | IVS10-11G>A / Gly272Term |
1 |
0.08 |
155 | IVS10-11G>A / T323del |
1 |
0.08 |
156 | IVS12+1G>A / 47563_51794del4232 |
1 |
0.08 |
157 | IVS12+1G>A / Arg243Term |
1 |
0.08 |
158 | IVS12+1G>A / IVS4-1G>A |
1 |
0.08 |
159 | Ile269Leu / Arg408Trp |
1 |
0.08 |
160 | Ile283Phe / Arg261Term |
1 |
0.08 |
161 | Ile306Val / Arg261Gln |
1 |
0.08 |
162 | Ile306Val / Arg261Term |
1 |
0.08 |
163 | Ile306Val / Asp415Asn |
1 |
0.08 |
164 | Ile306Val / Ile306Val |
1 |
0.08 |
165 | Ile306Val / K274Nfs |
1 |
0.08 |
166 | Ile306Val / Leu348Val |
1 |
0.08 |
167 | Ile306Val / Pro281Leu |
1 |
0.08 |
168 | Ile65Thr / Arg408Trp |
1 |
0.08 |
169 | Ile65Thr / Pro225Thr |
1 |
0.08 |
170 | Leu348Val / 47563_51794del4232 |
1 |
0.08 |
171 | Leu348Val / Arg261Term |
1 |
0.08 |
172 | Leu348Val / L358F |
1 |
0.08 |
173 | Leu348Val / Phe55Leu |
1 |
0.08 |
174 | Leu348Val / Pro281Leu |
1 |
0.08 |
175 | Leu48Ser / F55Lfs |
1 |
0.08 |
176 | Phe39Leu / Ile283Phe |
1 |
0.08 |
177 | Phe39Leu / Pro281Leu |
1 |
0.08 |
178 | Pro211Thr / Arg408Trp |
1 |
0.08 |
179 | Pro281Leu / Ala342Thr |
1 |
0.08 |
180 | Ser87Arg / Arg408Trp |
1 |
0.08 |
181 | Thr380Met / Arg408Trp |
1 |
0.08 |
182 | Tyr277Cys / Leu194Pro |
1 |
0.08 |
183 | Tyr414Cys / Arg158Gln |
1 |
0.08 | landscape |
184 | Tyr414Cys / F55Lfs |
1 |
0.08 |
185 | Tyr414Cys / Gly272Term |
1 |
0.08 |
186 | Tyr414Cys / IVS7+1G>A |
1 |
0.08 |
187 | Tyr414Cys / Ile283Phe |
1 |
0.08 |
188 | Tyr414Cys / Tyr414Cys |
1 |
0.08 |
189 | Val245Ala / Arg158Gln |
1 |
0.08 |
| Total: | 1205 |
patients included from: Rivera et al
| Genotype | Patients | Frequency in % |
---|
1 | IVS10-11G>A / IVS10-11G>A |
3 |
4.48 | landscape |
2 | IVS10-11G>A / Pro281Leu |
3 |
4.48 | landscape |
3 | Ala322Gly / Ser349Pro |
2 |
2.99 |
4 | Arg243Term / IVS10-11G>A |
2 |
2.99 |
5 | Arg261Gln / Arg261Gln |
2 |
2.99 | landscape |
6 | Arg261Gln / Arg408Trp |
2 |
2.99 | landscape |
7 | Arg261Gln / Val388Met |
2 |
2.99 |
8 | Arg261Term / Ile269Leu |
2 |
2.99 |
9 | Arg270Lys / Arg270Lys |
2 |
2.99 |
10 | Arg270Lys / IVS10-11G>A |
2 |
2.99 |
11 | IVS10-11G>A / Val388Met |
2 |
2.99 |
12 | Ile65Thr / Arg261Gln |
2 |
2.99 |
13 | Ile65Thr / Pro281Leu |
2 |
2.99 |
14 | Val388Met / Tyr414Cys |
2 |
2.99 |
15 | Ala300Ser / IVS10-11G>A |
1 |
1.49 | landscape |
16 | Arg158Gln / Arg176Leu |
1 |
1.49 |
17 | Arg158Gln / Arg261Gln |
1 |
1.49 |
18 | Arg158Gln / Arg270Lys |
1 |
1.49 |
19 | Arg158Gln / Pro281Leu |
1 |
1.49 |
20 | Arg158Gln / Y198_E205>Cfs |
1 |
1.49 |
21 | Arg176Leu / Glu390Gly |
1 |
1.49 |
22 | Arg176Term / Arg176Term |
1 |
1.49 |
23 | Arg176Term / IVS10-11G>A |
1 |
1.49 |
24 | Arg176Term / Val388Met |
1 |
1.49 |
25 | Arg241His / Arg261Gln |
1 |
1.49 |
26 | Arg243Gln / Val388Met |
1 |
1.49 |
27 | Arg243Term / Y198_E205>Cfs |
1 |
1.49 |
28 | Arg252Trp / IVS10-11G>A |
1 |
1.49 |
29 | Arg252Trp / T323del |
1 |
1.49 |
30 | Arg252Trp / Val388Met |
1 |
1.49 |
31 | Arg261Gln / IVS10-11G>A |
1 |
1.49 | landscape |
32 | Arg261Gln / Leu311Pro |
1 |
1.49 |
33 | Arg270Lys / Asp415Asn |
1 |
1.49 |
34 | Arg270Lys / Glu390Gly |
1 |
1.49 |
35 | Arg270Lys / Ser349Pro |
1 |
1.49 |
36 | Arg68Ser / Glu178Gly |
1 |
1.49 |
37 | Glu280Lys / Glu280Lys |
1 |
1.49 |
38 | IVS10-11G>A / Ala403Val |
1 |
1.49 |
39 | Ile269Leu / IVS10-11G>A |
1 |
1.49 |
40 | Ile65Thr / Arg243Gln |
1 |
1.49 |
41 | Ile65Thr / Ile65Thr |
1 |
1.49 |
42 | Leu249Phe / Ala309Val |
1 |
1.49 |
43 | Leu249Phe / Arg261Term |
1 |
1.49 |
44 | Leu249Phe / Val388Met |
1 |
1.49 |
45 | Leu311Pro / Leu311Pro |
1 |
1.49 |
46 | Leu348Val / Arg270Lys |
1 |
1.49 |
47 | Pro281Leu / Pro281Leu |
1 |
1.49 | landscape |
48 | T323del / T323del |
1 |
1.49 |
49 | T323del / Val388Met |
1 |
1.49 |
50 | Val230Ile / Pro281Leu |
1 |
1.49 |
51 | Val388Met / Val388Met |
1 |
1.49 |
| Total: | 67 |
patients included from: Stjiljkovic et alDjordojevic et al
| Genotype | Patients | Frequency in % |
---|
1 | Leu48Ser / Arg408Trp |
10 |
11.11 | landscape |
2 | Leu48Ser / Leu48Ser |
9 |
10.00 | landscape |
3 | Arg408Trp / Glu390Gly |
6 |
6.67 | landscape |
4 | Leu48Ser / Arg158Gln |
5 |
5.56 | landscape |
5 | Leu48Ser / Pro281Leu |
4 |
4.44 |
6 | Leu48Ser / Ile306Val |
3 |
3.33 |
7 | Leu48Ser / Ser231Phe |
3 |
3.33 |
8 | Arg111Term / IVS10-11G>A |
2 |
2.22 |
9 | Arg261Gln / IVS12+1G>A |
2 |
2.22 |
10 | Arg261Gln / Ile306Val |
2 |
2.22 |
11 | Arg261Term / Ile306Val |
2 |
2.22 |
12 | Arg408Trp / Arg252Gln |
2 |
2.22 |
13 | Arg408Trp / Arg408Trp |
2 |
2.22 | landscape |
14 | Arg408Trp / Arg413Pro |
2 |
2.22 |
15 | Arg408Trp / Pro225Thr |
2 |
2.22 |
16 | Gln20Term / Val177Leu |
2 |
2.22 |
17 | Glu390Gly / Arg158Gln |
2 |
2.22 |
18 | Glu390Gly / Arg261Term |
2 |
2.22 |
19 | IVS12+1G>A / Arg297His |
2 |
2.22 |
20 | Leu48Ser / Arg261Gln |
2 |
2.22 | landscape |
21 | Leu48Ser / Gln20Term |
2 |
2.22 |
22 | Leu48Ser / Val177Leu |
2 |
2.22 |
23 | Pro281Leu / IVS12+1G>A |
2 |
2.22 |
24 | Pro281Leu / Pro225Thr |
2 |
2.22 |
25 | Pro281Leu / Pro281Leu |
2 |
2.22 | landscape |
26 | Ala403Val / Arg408Trp |
1 |
1.11 | landscape |
27 | Arg111Term / Arg111Term |
1 |
1.11 |
28 | Arg243Term / Arg243Term |
1 |
1.11 |
29 | Arg261Gln / L15/S16fs |
1 |
1.11 |
30 | Arg261Gln / L15fs |
1 |
1.11 |
31 | Arg408Trp / IVS10+3 A>G |
1 |
1.11 |
32 | Arg408Trp / Val177Leu |
1 |
1.11 |
33 | Glu390Gly / Pro281Leu |
1 |
1.11 |
34 | Ile306Val / Arg408Trp |
1 |
1.11 | landscape |
35 | Ile306Val / Pro416Gln |
1 |
1.11 |
36 | Leu48Ser / Pro225Thr |
1 |
1.11 |
37 | Leu48Ser / Val177Met |
1 |
1.11 |
38 | Tyr414Cys / IVS10-11G>A |
1 |
1.11 |
39 | Tyr414Cys / Leu213Pro |
1 |
1.11 |
| Total: | 90 |
patients included from: Polak et al
| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / Arg408Trp |
54 |
27.00 | landscape |
2 | IVS12+1G>A / Arg408Trp |
10 |
5.00 | landscape |
3 | Ala403Val / Arg408Trp |
9 |
4.50 | landscape |
4 | Arg158Gln / Arg408Trp |
8 |
4.00 | landscape |
5 | Pro281Leu / Arg408Trp |
8 |
4.00 | landscape |
6 | Arg252Trp / Arg252Trp |
7 |
3.50 | landscape |
7 | Arg261Gln / Arg408Trp |
6 |
3.00 | landscape |
8 | Arg252Trp / Arg408Trp |
5 |
2.50 | landscape |
9 | Ile306Val / Arg408Trp |
5 |
2.50 | landscape |
10 | Arg158Gln / Arg158Gln |
4 |
2.00 |
11 | IVS2+5G>C / Arg408Trp |
4 |
2.00 |
12 | ex5 del4232ins268 / Arg408Trp |
4 |
2.00 |
13 | IVS10-11G>A / Arg408Trp |
3 |
1.50 | landscape |
14 | IVS4+5G>T / Arg408Trp |
3 |
1.50 |
15 | IVS7+1G>A / Arg408Trp |
3 |
1.50 |
16 | Ala300Ser / Arg408Trp |
2 |
1.00 | landscape |
17 | IVS12+1G>A / Ile306Val |
2 |
1.00 |
18 | Val245Ala / Arg408Trp |
2 |
1.00 | landscape |
19 | Ala403Val / Ala300Ser |
1 |
0.50 |
20 | Ala403Val / Ala322Thr |
1 |
0.50 |
21 | Ala403Val / Arg158Gln |
1 |
0.50 |
22 | Ala403Val / ex5 del4232ins268 |
1 |
0.50 |
23 | Arg158Gln / Lys320Asn |
1 |
0.50 |
24 | Arg158Gln / Phe39Leu |
1 |
0.50 |
25 | Arg158Gln / Tyr414Cys |
1 |
0.50 | landscape |
26 | Arg243Term / Pro281Leu |
1 |
0.50 |
27 | Arg252Trp / Ala300Ser |
1 |
0.50 |
28 | Arg261Gln / Ala300Ser |
1 |
0.50 |
29 | Arg261Gln / Ala403Val |
1 |
0.50 |
30 | Arg261Gln / Arg158Gln |
1 |
0.50 |
31 | Arg261Gln / Arg261Gln |
1 |
0.50 | landscape |
32 | Arg261Gln / IVS2+5G>C |
1 |
0.50 |
33 | Arg261Gln / Ile306Val |
1 |
0.50 |
34 | Arg261Gln / Leu348Val |
1 |
0.50 |
35 | Arg261Gln / Trp326Term |
1 |
0.50 |
36 | Arg408Trp / Ala104Asp |
1 |
0.50 |
37 | Arg408Trp / Arg53His |
1 |
0.50 |
38 | Arg408Trp / F233I |
1 |
0.50 |
39 | Arg408Trp / F55Lfs*6 |
1 |
0.50 |
40 | Arg408Trp / Gln20Term |
1 |
0.50 |
41 | Arg408Trp / Gln336Term |
1 |
0.50 |
42 | Arg408Trp / Glu390Gly |
1 |
0.50 | landscape |
43 | Arg408Trp / IVS5-6T>G |
1 |
0.50 |
44 | Arg408Trp / Lys320Asn |
1 |
0.50 |
45 | Arg408Trp / Pro211Thr |
1 |
0.50 |
46 | Arg408Trp / R270I |
1 |
0.50 |
47 | Arg408Trp / Ser349Pro |
1 |
0.50 |
48 | Arg408Trp / Thr278Asn |
1 |
0.50 |
49 | Arg408Trp / Tyr204Cys |
1 |
0.50 |
50 | Arg408Trp / Tyr414Cys |
1 |
0.50 | landscape |
51 | Arg68Ser / IVS7+1G>A |
1 |
0.50 |
52 | F55Lfs*6 / F55Lfs*6 |
1 |
0.50 |
53 | IVS10-11G>A / Arg176Term |
1 |
0.50 |
54 | IVS10-11G>A / Ile306Val |
1 |
0.50 |
55 | IVS10-11G>A / Leu213Pro |
1 |
0.50 |
56 | IVS12+1G>A / Ala300Ser |
1 |
0.50 |
57 | IVS12+1G>A / Arg158Gln |
1 |
0.50 |
58 | IVS12+1G>A / Arg252Trp |
1 |
0.50 |
59 | IVS12+1G>A / Arg261Gln |
1 |
0.50 |
60 | IVS12+1G>A / Glu390Gly |
1 |
0.50 |
61 | IVS12+1G>A / IVS10-11G>A |
1 |
0.50 |
62 | IVS12+1G>A / IVS12+1G>A |
1 |
0.50 |
63 | IVS12+1G>A / IVS2+5G>C |
1 |
0.50 |
64 | IVS12+1G>A / Val177Met |
1 |
0.50 |
65 | IVS4+5G>T / IVS4+5G>T |
1 |
0.50 |
66 | IVS4+5G>T / Val177Met |
1 |
0.50 |
67 | Ile65Thr / Ile65Thr |
1 |
0.50 |
68 | L358F / F331S |
1 |
0.50 |
69 | Leu348Val / Glu390Gly |
1 |
0.50 |
70 | Lys320Asn / Tyr414Cys |
1 |
0.50 |
71 | Pro281Leu / IVS2+5G>C |
1 |
0.50 |
72 | Pro281Leu / Thr278Asn |
1 |
0.50 |
73 | R270I / Ile306Val |
1 |
0.50 |
74 | Tyr387Term / ex5 del4232ins268 |
1 |
0.50 |
75 | Tyr414Cys / Tyr414Cys |
1 |
0.50 |
76 | Val230Ile / ex3del4765 |
1 |
0.50 |
77 | Val245Ala / F233I |
1 |
0.50 |
78 | ex5 del4232ins268 / IVS2+5G>C |
1 |
0.50 |
79 | ex5 del4232ins268 / IVS7+1G>A |
1 |
0.50 |
| Total: | 200 |
patients included from: Tansek et al
| Genotype | Patients | Frequency in % |
---|
1 | Arg158Gln / Glu390Gly |
4 |
11.43 |
2 | Arg261Gln / Glu390Gly |
2 |
5.71 |
3 | Leu48Ser / IVS4-5C>G |
2 |
5.71 |
4 | Pro281Leu / Ala403Val |
2 |
5.71 |
5 | Arg157Ser / Arg158Gln |
1 |
2.86 |
6 | Arg158Gln / Arg408Trp |
1 |
2.86 | landscape |
7 | Arg158Gln / IVS10-3C>T |
1 |
2.86 |
8 | Arg158Gln / Val177Leu |
1 |
2.86 |
9 | Arg261Gln / Arg408Trp |
1 |
2.86 | landscape |
10 | Arg408Trp / Arg408Trp |
1 |
2.86 | landscape |
11 | Arg408Trp / Asp415Asn |
1 |
2.86 |
12 | F55>Lfs / Arg157Ser |
1 |
2.86 |
13 | F55>Lfs / Arg408Trp |
1 |
2.86 |
14 | F55>Lfs / IVS12+1G>A |
1 |
2.86 |
15 | Gln226His / Ala403Val |
1 |
2.86 |
16 | Glu390Gly / Arg408Trp |
1 |
2.86 | landscape |
17 | IVS10-3C>T / Arg408Trp |
1 |
2.86 |
18 | IVS10-3C>T / IVS12+1G>A |
1 |
2.86 |
19 | IVS12+1G>A / Ala403Val |
1 |
2.86 |
20 | IVS4+5G>T / Glu178Gly |
1 |
2.86 |
21 | IVS8+2T>C / IVS10-3C>T |
1 |
2.86 |
22 | IVS8-2A>G / Glu390Gly |
1 |
2.86 |
23 | Leu48Ser / Ser349Pro |
1 |
2.86 |
24 | N133Rfs / IVS8-7A>G |
1 |
2.86 |
25 | Val45Ala / Pro281Leu |
1 |
2.86 |
26 | ex3del4765 / Ala300Ser |
1 |
2.86 |
27 | ex5del955 / Arg261Gln |
1 |
2.86 |
28 | ex5del955 / Arg408Trp |
1 |
2.86 |
29 | ex5del955 / Asp415Asn |
1 |
2.86 |
| Total: | 35 |
patients included from: Couce et alDesviat et alBueno et al
| Genotype | Patients | Frequency in % |
---|
1 | IVS10nt-11G>A / IVS10nt-11G>A |
6 |
3.64 |
2 | IVS4nt+5G>T / Val388Met |
5 |
3.03 |
3 | Ser349Pro / Ser349Pro |
5 |
3.03 |
4 | Arg261Gln / IVS10-11G>A |
4 |
2.42 | landscape |
5 | Tyr204Term / Arg68Ser |
4 |
2.42 |
6 | Arg261Gln / Arg261Pro |
3 |
1.82 |
7 | Arg261Gln / Ile65Thr |
3 |
1.82 |
8 | IVS10-11G>A / Ile65Thr |
3 |
1.82 | landscape |
9 | IVS12nt+1G>A / IVS12nt+1G>A |
3 |
1.82 |
10 | IVS4nt+5G>A / Val388Met |
3 |
1.82 |
11 | Val388Met / IVS8nt-7A>G |
3 |
1.82 |
12 | Ala300Ser / Cys203Tyr |
2 |
1.21 |
13 | Ala403Val / Arg261Gln |
2 |
1.21 |
14 | Ala403Val / Val388Met |
2 |
1.21 |
15 | Arg243Gln / IVS10-11G>A |
2 |
1.21 |
16 | Arg243Gln / IVS10nt-11G>A |
2 |
1.21 |
17 | Arg243Gln / Val388Met |
2 |
1.21 |
18 | Arg243Term / IVS10-11G>A |
2 |
1.21 |
19 | Arg261Pro / Ile65Thr |
2 |
1.21 |
20 | Arg408Trp / Arg408Trp |
2 |
1.21 | landscape |
21 | F55Lfs / Arg261Gln |
2 |
1.21 |
22 | Glu280Lys / Val388Met |
2 |
1.21 |
23 | IVS10-11G>A / IVS10-11G>A |
2 |
1.21 | landscape |
24 | IVS1nt+5G>T / Arg261Gln |
2 |
1.21 |
25 | IVS4nt+5G>T / IVS10nt-11G>A |
2 |
1.21 |
26 | Ile65Thr / IVS10 |
2 |
1.21 | landscape |
27 | Ile65Thr / Q304Q |
2 |
1.21 |
28 | Ile65Thr / Val388Met |
2 |
1.21 |
29 | Leu48Ser / Tyr277Asp |
2 |
1.21 |
30 | Met1Ile / Phe55Leu |
2 |
1.21 |
31 | Ser303Ala / Gly46Ser |
2 |
1.21 |
32 | Ser349Pro / Arg261Gln |
2 |
1.21 |
33 | Ser349Pro / Val388Met |
2 |
1.21 |
34 | Tyr414Cys / Gly46Ser |
2 |
1.21 |
35 | Tyr414Cys / IVS4nt+5G>A |
2 |
1.21 |
36 | Ala104Asp / Arg158Gln |
1 |
0.61 |
37 | Ala300Ser / Q304Q |
1 |
0.61 |
38 | Ala309Val / IVS1nt5 |
1 |
0.61 |
39 | Arg158Gln / Glu280Lys |
1 |
0.61 |
40 | Arg158Gln / Leu48Ser |
1 |
0.61 | landscape |
41 | Arg176Leu / Pro281Leu |
1 |
0.61 |
42 | Arg176Term / Arg261Gln |
1 |
0.61 |
43 | Arg243Gln / Glu390Gly |
1 |
0.61 |
44 | Arg243Term / Leu48Ser |
1 |
0.61 |
45 | Arg243Term / Val388Met |
1 |
0.61 |
46 | Arg261Gln / Ala300Ser |
1 |
0.61 |
47 | Arg261Gln / Arg261Gln |
1 |
0.61 | landscape |
48 | Arg261Gln / Arg408Trp |
1 |
0.61 | landscape |
49 | Arg261Term / Arg243Gln |
1 |
0.61 |
50 | Arg261Term / Arg261Term |
1 |
0.61 |
51 | Arg270Lys / IVS10-11G>A |
1 |
0.61 |
52 | Arg408Gln / Leu311Pro |
1 |
0.61 |
53 | Arg408Trp / Arg252Gln |
1 |
0.61 |
54 | Arg68Ser / F39del |
1 |
0.61 |
55 | Arg68Ser / IVS10-11G>A |
1 |
0.61 |
56 | Arg68Ser / IVS12nt+1G>A |
1 |
0.61 |
57 | Arg68Ser / IVS4nt+5G>A |
1 |
0.61 |
58 | Arg68Ser / IVS7nt3 |
1 |
0.61 |
59 | Arg68Ser / Pro362Thr |
1 |
0.61 |
60 | Asp415Asn / Arg176Term |
1 |
0.61 |
61 | E66K / Ser349Pro |
1 |
0.61 |
62 | Glu280Lys / Arg261Gln |
1 |
0.61 |
63 | Glu280Lys / Glu280Lys |
1 |
0.61 |
64 | Glu390Gly / IVS12nt1 |
1 |
0.61 |
65 | Glu390Gly / Val388Met |
1 |
0.61 |
66 | Gly46Ser / Arg243Gln |
1 |
0.61 |
67 | IVS10 / delF39 |
1 |
0.61 |
68 | IVS10-3C>T / IVS10-3C>T |
1 |
0.61 |
69 | IVS10nt-11G>A / Asn61Lys |
1 |
0.61 |
70 | IVS10nt-11G>A / Cys217Gly |
1 |
0.61 |
71 | IVS10nt-11G>A / G352fs del |
1 |
0.61 |
72 | IVS10nt-11G>A / Ile65Thr |
1 |
0.61 |
73 | IVS1nt+5G>T / Arg261Pro |
1 |
0.61 |
74 | IVS1nt+5G>T / Glu390Gly |
1 |
0.61 |
75 | IVS1nt5 / Leu348Val |
1 |
0.61 |
76 | IVS2nt5G>A / Ile65Thr |
1 |
0.61 |
77 | IVS4nt+5G>A / Glu390Gly |
1 |
0.61 |
78 | IVS4nt+5G>A / IVS10nt-11G>A |
1 |
0.61 |
79 | IVS4nt+5G>A / R256Q |
1 |
0.61 |
80 | IVS4nt+5G>A / not det |
1 |
0.61 |
81 | Ile65Thr / Ala300Ser |
1 |
0.61 |
82 | Ile65Thr / Ala309Val |
1 |
0.61 |
83 | Ile65Thr / Arg158Gln |
1 |
0.61 |
84 | Ile65Thr / Arg243Term |
1 |
0.61 |
85 | Ile65Thr / Arg408Gln |
1 |
0.61 |
86 | Ile65Thr / Phe55Leu |
1 |
0.61 |
87 | Ile65Thr / Pro244Leu |
1 |
0.61 |
88 | Ile65Thr / Pro275Arg |
1 |
0.61 |
89 | Ile65Thr / S196fs |
1 |
0.61 |
90 | Leu258Pro / Leu258Pro |
1 |
0.61 |
91 | Leu348Val / Arg261Pro |
1 |
0.61 |
92 | Phe55Leu / R281L |
1 |
0.61 |
93 | Pro122Gln / Phe39Leu |
1 |
0.61 |
94 | Pro211Thr / IVS10-11G>A |
1 |
0.61 |
95 | Pro244Leu / Arg261Gln |
1 |
0.61 |
96 | Pro275Arg / Leu348Val |
1 |
0.61 |
97 | Q304Q / Arg176Leu |
1 |
0.61 |
98 | R155C / G289R |
1 |
0.61 |
99 | Ser349Pro / Arg261Pro |
1 |
0.61 |
100 | Ser87Arg / G352fs del |
1 |
0.61 |
101 | Ser87Arg / Ser349Pro |
1 |
0.61 |
102 | Thr418Asn / IVS10 |
1 |
0.61 |
103 | Tyr414Cys / Gly272Term |
1 |
0.61 |
104 | Tyr414Cys / Leu348Val |
1 |
0.61 |
105 | Val388Met / Arg261Pro |
1 |
0.61 |
106 | Val388Met / IVS10 |
1 |
0.61 |
107 | Val388Met / Leu48Ser |
1 |
0.61 |
108 | Val388Met / Tyr414Cys |
1 |
0.61 |
109 | Val388Met / Val388Met |
1 |
0.61 |
110 | delF39 / Arg176Term |
1 |
0.61 |
| Total: | 165 |
patients included from: Svensson et al
| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / IVS12 |
9 |
18.00 | landscape |
2 | Arg408Trp / Arg408Trp |
5 |
10.00 | landscape |
3 | Arg408Trp / Tyr414Cys |
5 |
10.00 | landscape |
4 | IVS12 / Tyr414Cys |
5 |
10.00 | landscape |
5 | Tyr414Cys / Tyr414Cys |
5 |
10.00 |
6 | IVS12 / IVS12 |
4 |
8.00 |
7 | Arg158Gln / Tyr414Cys |
2 |
4.00 | landscape |
8 | Arg243Term / Tyr414Cys |
2 |
4.00 |
9 | Arg408Trp / Ala322Gly |
2 |
4.00 |
10 | Ala322Gly / Arg408Gln |
1 |
2.00 |
11 | Arg252Trp / Ala322Gly |
1 |
2.00 |
12 | Arg261Gln / Arg261Gln |
1 |
2.00 | landscape |
13 | Arg408Trp / Arg408Gln |
1 |
2.00 |
14 | Arg408Trp / Pro281Leu |
1 |
2.00 | landscape |
15 | Gly272Term / Tyr414Cys |
1 |
2.00 |
16 | Gly272Term / deltaL364 |
1 |
2.00 |
17 | IVS12 / Arg252Trp |
1 |
2.00 |
18 | IVs12 / Gly272Term |
1 |
2.00 |
19 | Pro281Leu / Pro281Leu |
1 |
2.00 | landscape |
20 | Tyr414Cys / Arg408Gln |
1 |
2.00 |
| Total: | 50 |
patients included from: Murad et al
| Genotype | Patients | Frequency in % |
---|
1 | Arg243Gln / Arg243Gln |
3 |
10.34 |
2 | Arg261Gln / Arg261Gln |
3 |
10.34 | landscape |
3 | F55>Lfs / F55>Lfs |
3 |
10.34 |
4 | Glu280Lys / Glu280Lys |
2 |
6.90 |
5 | IVS10-11G>A / IVS10-11G>A |
2 |
6.90 | landscape |
6 | IVS2+5G>C / IVS2+5G>C |
2 |
6.90 |
7 | Pro281Leu / Pro281Leu |
2 |
6.90 | landscape |
8 | Ser310Phe / Ser310Phe |
2 |
6.90 |
9 | Arg270Lys / Arg270Lys |
1 |
3.45 |
10 | Arg408Trp / Arg408Trp |
1 |
3.45 | landscape |
11 | D151E / IVS10-11G>A |
1 |
3.45 |
12 | IVS11+1G>A / IVS11+1G>A |
1 |
3.45 |
13 | IVS4+5G>T / Arg270Lys |
1 |
3.45 |
14 | IVS4+5G>T / IVS4+5G>T |
1 |
3.45 |
15 | IVS4+5G>T / IVS9+5G>A |
1 |
3.45 |
16 | IVS7+1G>A / IVS7+1G>A |
1 |
3.45 |
17 | IVS9+5G>A / IVS9+5G>A |
1 |
3.45 |
18 | Tyr387His / Tyr387His |
1 |
3.45 |
| Total: | 29 |
patients included from: Dobrowolski et al
| Genotype | Patients | Frequency in % |
---|
1 | IVS10-11G>A / IVS10-11G>A |
84 |
33.33 | landscape |
2 | Arg261Gln / Arg261Gln |
27 |
10.71 | landscape |
3 | Pro281Leu / Pro281Leu |
27 |
10.71 | landscape |
4 | Arg408Trp / Arg408Trp |
15 |
5.95 | landscape |
5 | IVS10-11G>A / Arg408Trp |
13 |
5.16 | landscape |
6 | IVS10-11G>A / Leu48Ser |
13 |
5.16 | landscape |
7 | Leu48Ser / Leu48Ser |
12 |
4.76 | landscape |
8 | c.441+5G>T / c.441+5G>T |
11 |
4.37 |
9 | IVS10-11G>A / Ala300Ser |
10 |
3.97 | landscape |
10 | IVS10-11G>A / Pro281Leu |
10 |
3.97 | landscape |
11 | Ala300Ser / Ala300Ser |
9 |
3.57 |
12 | Glu390Gly / Glu390Gly |
8 |
3.17 |
13 | Arg252Trp / Arg252Trp |
7 |
2.78 | landscape |
14 | Arg241Cys / Arg241Cys |
6 |
2.38 |
| Total: | 252 |
patients included from: Sarkissian et alEva Morava (personal communication)MatalonYangGuldbergEisensmithUtzQuirkElsas
| Genotype | Patients | Frequency in % |
---|
1 | Arg408Trp / Arg408Trp |
13 |
4.55 | landscape |
2 | Arg408Trp / IVS12+1G>A |
11 |
3.85 | landscape |
3 | Tyr414Cys / Ile65Thr |
9 |
3.15 |
4 | Arg408Trp / Tyr414Cys |
8 |
2.80 | landscape |
5 | Arg408Trp / Ile65Thr |
6 |
2.10 |
6 | Ile65Thr / Ile65Thr |
5 |
1.75 |
7 | Arg408Trp / Leu348Val |
4 |
1.40 | landscape |
8 | Leu348Val / Leu348Val |
4 |
1.40 |
9 | Arg408Trp / Ala104Asp |
3 |
1.05 |
10 | Arg408Trp / Arg261Gln |
3 |
1.05 | landscape |
11 | Arg408Trp / Arg68Ser |
3 |
1.05 |
12 | Glu280Lys / Phe299Cys |
3 |
1.05 |
13 | IVS12+1G>A / IVS12+1G>A |
3 |
1.05 |
14 | Pro281Leu / IVS12+1G>A |
3 |
1.05 |
15 | Ala447Asp / Arg408Trp |
2 |
0.70 |
16 | Arg176Term / Val388Met |
2 |
0.70 |
17 | Arg241His / Arg252Trp |
2 |
0.70 |
18 | Arg252Gln / IVS12+1G>A |
2 |
0.70 |
19 | Arg252Trp / Gln304Arg |
2 |
0.70 |
20 | Arg261Term / IVS10-11G>A |
2 |
0.70 |
21 | Arg408Trp / Arg243Term |
2 |
0.70 |
22 | Arg408Trp / Leu48Ser |
2 |
0.70 | landscape |
23 | Arg408Trp / Phe39Leu |
2 |
0.70 |
24 | Arg68Ser / Ile65Thr |
2 |
0.70 |
25 | Glu280Lys / Arg408Trp |
2 |
0.70 |
26 | IVS1+5G>T / Gly272Term |
2 |
0.70 |
27 | IVS10-11G>A / IVS10-11G>A |
2 |
0.70 | landscape |
28 | IVS11+20G>C / Arg408Trp |
2 |
0.70 |
29 | IVS12+1G>A / Arg241Cys |
2 |
0.70 |
30 | IVS8+1G>A / Arg408Trp |
2 |
0.70 |
31 | IVS8+1G>A / IVS8+1G>A |
2 |
0.70 |
32 | Ile65Thr / Arg111Term |
2 |
0.70 |
33 | Ile65Thr / Glu280Lys |
2 |
0.70 |
34 | Ile65Thr / Leu348Val |
2 |
0.70 |
35 | Ile65Thr / Leu48Ser |
2 |
0.70 |
36 | Ile65Thr / Ser349Pro |
2 |
0.70 |
37 | Leu48Ser / Phe39L |
2 |
0.70 |
38 | Phe39Leu / Ile65Thr |
2 |
0.70 |
39 | R216Q / Arg408Trp |
2 |
0.70 |
40 | Tyr414Cys / Ala104Asp |
2 |
0.70 |
41 | Tyr414Cys / Arg68Ser |
2 |
0.70 |
42 | Ala104Asp / Asp222Gly |
1 |
0.35 |
43 | Ala104Asp / Pro281Leu |
1 |
0.35 |
44 | Ala300Ser / Arg408Trp |
1 |
0.35 | landscape |
45 | Ala395Pro / Arg408Trp |
1 |
0.35 |
46 | Ala403Val / Arg408Trp |
1 |
0.35 | landscape |
47 | Arg158Gln / Arg261Gln |
1 |
0.35 |
48 | Arg158Gln / Gly272Term |
1 |
0.35 |
49 | Arg158Gln / IVS12+1G>A |
1 |
0.35 |
50 | Arg158Gln / IVS4+5G>T |
1 |
0.35 |
51 | Arg241Cys / IVS8+1G>A |
1 |
0.35 |
52 | Arg241Cys / IVS8nt1 |
1 |
0.35 |
53 | Arg241Cys / Ser349Pro |
1 |
0.35 |
54 | Arg241Leu / Arg408Trp |
1 |
0.35 |
55 | Arg243Term / IVS10-11G>A |
1 |
0.35 |
56 | Arg243Term / Ile65Thr |
1 |
0.35 |
57 | Arg252Trp / Arg408Gln |
1 |
0.35 |
58 | Arg252Trp / Arg408Trp |
1 |
0.35 | landscape |
59 | Arg252Trp / Arg68Ser |
1 |
0.35 |
60 | Arg252Trp / Pro211Thr |
1 |
0.35 |
61 | Arg252Trp / Tyr414Cys |
1 |
0.35 |
62 | Arg261Gln / Arg243Leu |
1 |
0.35 |
63 | Arg261Gln / Arg261Gln |
1 |
0.35 | landscape |
64 | Arg261Gln / Gly272Term |
1 |
0.35 |
65 | Arg261Gln / IVS10-11G>A |
1 |
0.35 | landscape |
66 | Arg261Gln / IVS12+1G>A |
1 |
0.35 |
67 | Arg261Gln / Leu308Phe |
1 |
0.35 |
68 | Arg261Gln / Pro211Thr |
1 |
0.35 |
69 | Arg261Gln / c.283-285delATC |
1 |
0.35 |
70 | Arg270Lys / delI94 |
1 |
0.35 |
71 | Arg408Trp / Ala309Asp |
1 |
0.35 |
72 | Arg408Trp / Ala309Val |
1 |
0.35 |
73 | Arg408Trp / Arg111Term |
1 |
0.35 |
74 | Arg408Trp / Arg158Gln |
1 |
0.35 | landscape |
75 | Arg408Trp / Arg261Term |
1 |
0.35 |
76 | Arg408Trp / Arg408Gln |
1 |
0.35 |
77 | Arg408Trp / E205D |
1 |
0.35 |
78 | Arg408Trp / EX6_IVS6del |
1 |
0.35 |
79 | Arg408Trp / Glu390Gly |
1 |
0.35 | landscape |
80 | Arg408Trp / Glu78Lys |
1 |
0.35 |
81 | Arg408Trp / IVS4+1G>A |
1 |
0.35 |
82 | Arg408Trp / Leu194Pro |
1 |
0.35 |
83 | Arg408Trp / Leu213Pro |
1 |
0.35 |
84 | Arg408Trp / Pro281Leu |
1 |
0.35 | landscape |
85 | Arg408Trp / Thr81Pro |
1 |
0.35 |
86 | Arg408Trp / Val190Ala |
1 |
0.35 |
87 | Arg408Trp / c.929_939del11 |
1 |
0.35 |
88 | Arg68Ser / Arg408Gln |
1 |
0.35 |
89 | Arg68Ser / IVS10+3A>G |
1 |
0.35 |
90 | Arg68Ser / IVS10-11G>A |
1 |
0.35 |
91 | Arg68Ser / IVS5+1G>A |
1 |
0.35 |
92 | Asp145Val / Val388Met |
1 |
0.35 |
93 | G352fs / Val177Leu |
1 |
0.35 |
94 | Gln20Term / Arg408Trp |
1 |
0.35 |
95 | Glu280Lys / EX6_IVS6del |
1 |
0.35 |
96 | Glu280Lys / Ile269Leu |
1 |
0.35 |
97 | Glu280Lys / Leu348Val |
1 |
0.35 |
98 | Glu390Gly / IVS12+1G>A |
1 |
0.35 |
99 | Glu76Ala / IVS10-11G>A |
1 |
0.35 |
100 | Gly218Val / Ser349Pro |
1 |
0.35 |
101 | Gly218Val / Tyr414Cys |
1 |
0.35 |
102 | Gly272Term / Arg241His |
1 |
0.35 |
103 | Gly272Term / Arg408Trp |
1 |
0.35 |
104 | His170Asp / Arg261Term |
1 |
0.35 |
105 | His170Asp / His170Asp |
1 |
0.35 |
106 | IVS1+5G>A / His170Asp |
1 |
0.35 |
107 | IVS1+5G>T / IVS1+5G>T |
1 |
0.35 |
108 | IVS10-11G>A / Arg408Trp |
1 |
0.35 | landscape |
109 | IVS10-11G>A / Glu178Gly |
1 |
0.35 |
110 | IVS10-11G>A / Pro366His |
1 |
0.35 |
111 | IVS10-3C>T / Gly272Term |
1 |
0.35 |
112 | IVS10-3C>T / IVS12+1G>A |
1 |
0.35 |
113 | IVS12+1G>A / Arg68Ser |
1 |
0.35 | landscape |
114 | IVS12+1G>A / IVS4+5G>T |
1 |
0.35 |
115 | IVS12+1G>A / Ile65Thr |
1 |
0.35 | landscape |
116 | IVS12+1G>A / Tyr277Asp |
1 |
0.35 |
117 | IVS12+1G>A / Tyr386Cys |
1 |
0.35 | landscape |
118 | IVS2+1G>A / Arg252Trp |
1 |
0.35 |
119 | IVS4+1G>A / Val190Ala |
1 |
0.35 |
120 | IVS4ntg>t / Ala403Val |
1 |
0.35 |
121 | IVS5+1G>A / Arg408Trp |
1 |
0.35 |
122 | IVS7+1G>A / Arg261Gln |
1 |
0.35 |
123 | IVS7+1G>A / IVS7+1G>A |
1 |
0.35 |
124 | IVS7+5G>A / Tyr414Cys |
1 |
0.35 |
125 | IVS8+1G>A / G352>Vfs |
1 |
0.35 |
126 | IVS8+1G>A / Ile65Thr |
1 |
0.35 |
127 | IVS8+1G>A / Leu348Val |
1 |
0.35 |
128 | IVS8+1G>A / Thr81Pro |
1 |
0.35 |
129 | Ile283Phe / Arg408Trp |
1 |
0.35 | landscape |
130 | Ile65Thr / Ala403Val |
1 |
0.35 |
131 | Ile65Thr / E205D |
1 |
0.35 |
132 | Ile65Thr / Glu178Gly |
1 |
0.35 |
133 | Ile65Thr / IVS10-3C>T |
1 |
0.35 |
134 | Ile65Thr / Phe299Cys |
1 |
0.35 |
135 | Leu213Pro / Arg261Term |
1 |
0.35 |
136 | Leu249Phe / Asn167Ile |
1 |
0.35 |
137 | Leu249Phe / IVS10-11G>A |
1 |
0.35 |
138 | Leu311Pro / Tyr386Cys |
1 |
0.35 |
139 | Leu41Pro / E280KE280KE280K |
1 |
0.35 |
140 | Leu48Ser / Arg158Gln |
1 |
0.35 | landscape |
141 | Leu48Ser / Arg261Gln |
1 |
0.35 | landscape |
142 | Leu48Ser / IVS10-11G>A |
1 |
0.35 | landscape |
143 | Leu48Ser / IVS12+1G>A |
1 |
0.35 |
144 | Leu48Ser / Tyr387His |
1 |
0.35 |
145 | Lys320Asn / Leu48Ser |
1 |
0.35 |
146 | N133_Q134>Rfs / Tyr414Cys |
1 |
0.35 |
147 | N133_Q134>Rfs / Val245Leu |
1 |
0.35 |
148 | P211fsdelC / Trp187Term |
1 |
0.35 |
149 | Phe299Cys / Cys334Ser |
1 |
0.35 |
150 | Phe299Cys / Leu48Ser |
1 |
0.35 |
151 | Phe299Cys / Tyr414Cys |
1 |
0.35 |
152 | Phe331Cys / Arg408Trp |
1 |
0.35 |
153 | Phe39L / Phe39L |
1 |
0.35 |
154 | Phe39Leu / F55delT |
1 |
0.35 |
155 | Phe39Leu / F55fdelT |
1 |
0.35 |
156 | Phe39Leu / G272X_x0001_ |
1 |
0.35 |
157 | Phe39Leu / Gly272Term |
1 |
0.35 |
158 | Phe39Leu / Phe39Leu |
1 |
0.35 |
159 | Pro175Ala / Ala104Asp |
1 |
0.35 |
160 | Pro275Ser / EX9_EX13del |
1 |
0.35 |
161 | Pro281Leu / Gly218Val |
1 |
0.35 |
162 | Pro281Leu / Ile65Thr |
1 |
0.35 |
163 | Pro281Leu / Leu348Val |
1 |
0.35 |
164 | Pro281Leu / Phe39L |
1 |
0.35 |
165 | Pro281Leu / c.283-285delATC |
1 |
0.35 |
166 | Pro281Leu / p.I94del |
1 |
0.35 |
167 | Pro407Ser / Arg408Trp |
1 |
0.35 |
168 | Ser349Leu / Arg408Trp |
1 |
0.35 |
169 | Ser349Pro / Arg408Trp |
1 |
0.35 |
170 | Ser349Pro / Leu48Ser |
1 |
0.35 |
171 | Thr81Pro / Phe39Leu |
1 |
0.35 |
172 | Tyr277Asp / IVS10-11G>A |
1 |
0.35 |
173 | Tyr277Asp / Ile65Thr |
1 |
0.35 |
174 | Tyr277Asp / Tyr343Cys |
1 |
0.35 |
175 | Tyr414Cys / Arg158Gln |
1 |
0.35 | landscape |
176 | Tyr414Cys / Arg408Gln |
1 |
0.35 |
177 | Tyr414Cys / Asp282Asn |
1 |
0.35 |
178 | Tyr414Cys / Gly272Term |
1 |
0.35 |
179 | Tyr414Cys / I269>Tfs |
1 |
0.35 |
180 | Tyr414Cys / IVS1+5G>T |
1 |
0.35 |
181 | Tyr414Cys / IVS10-11G>A |
1 |
0.35 |
182 | Tyr414Cys / IVS12+1G>A |
1 |
0.35 | landscape |
183 | Tyr414Cys / Tyr414Cys |
1 |
0.35 |
184 | Val177Leu / Phe39Leu |
1 |
0.35 |
185 | Val190Ala / Ile65Thr |
1 |
0.35 |
186 | Val190Ala / p.X453_453+2del |
1 |
0.35 |
187 | Val245Ala / Phe299Cys |
1 |
0.35 |
188 | Val245Glu / Pro281Leu |
1 |
0.35 |
189 | Val245Leu / Tyr414Cys |
1 |
0.35 |
190 | Val388Met / Glu390Gly |
1 |
0.35 |
191 | Val388Met / Val388Met |
1 |
0.35 |
192 | Val388Met / c.47-48delCT |
1 |
0.35 |
193 | c.115-117delTTC / Ala345Ser |
1 |
0.35 |
194 | c.165delT / Gln226His |
1 |
0.35 |
195 | delI94 / IVS12+1G>A |
1 |
0.35 |
| Total: | 286 |