|
Homozygous |
|
|
1 |
IVSII.1 (G > A)/IVSII.1 (G > A) |
24 (18.9) |
2 |
IVSI.1 (G > A)/IVSI.1 (G > A) |
10 (7.9) |
3 |
Codon 8 (−AA)/Codon 8 (−AA) |
8 (6.3) |
4 |
Codon 39 (C > T)/Codon 39 (C > T) |
8 (6.3) |
5 |
Codon 44 (−C)/Codon 44 (−C) |
7 (5.5) |
6 |
Codon 8/9 (+G)/Codon 8/9 (+G) |
3 (2.4) |
7 |
Codon 5 (−CT)/Codon 5 (−CT) |
3 (2.4) |
8 |
IVSI-110 (G > A)/IVSI.110 (G > A) |
1 (0.8) |
9 |
IVSI.5 (G > C)/IVSI.5 (G > C) |
1 (0.8) |
10 |
Codon 36/37 (−T)/Codon 36/37 (−T) |
1 (0.8) |
|
|
Compound Heterozygous |
|
|
11 |
IVSII.1 (G > A)/IVSI.1 (G > A) |
9 (7.1) |
12 |
IVSI.1 (G > A)/Codon 8/9 (+G) |
7 (5.5) |
13 |
IVSI.1 (G > A)/IVSI.6 (T > C) |
3 (2.4) |
14 |
IVSII.1 (G > A)/Codon 8/9 (+G) |
3 (2.4) |
15 |
IVSII.1 (G > A)/Codon 8 (−AA) |
3 (2.4) |
16 |
Codon 8/9 (+G)/Codon 5 (−CT) |
3 (2.4) |
17 |
Codon 44 (−C)/codon 5 (−CT) |
3 (2.4) |
18 |
IVSI.1 (G > A)/Codon 8 (−AA) |
2 (1.6) |
19 |
IVSII.1 (G > A)/Codon 39 (C > T) |
2 (1.6) |
20 |
IVSII.1 (G > A)/Codon 5 (−CT) |
2 (1.6) |
21 |
Codon 39 (C > T)/codon 44 (−C) |
2 (1.6) |
22 |
IVSII.1 (G > A)/IVSI.6 (T > C) |
2 (1.6) |
23 |
IVS.I.5 (G > C)/codon 8/9 (+G) |
2 (1.6) |
24 |
IVSII.1 (G > A)/IVSI.110 (G > A) |
1 (0.8) |
25 |
Codon 5 (−CT)/Codon 8 (−AA) |
1 (0.8) |
26 |
IVSI.1 (G > A)/Codon 39 (C > T) |
1 (0.8) |
27 |
IVSII.1 (G > A)/IVSII.745 (C > G) |
1 (0.8) |
28 |
IVSI.1 (G > A)/codon 22 (−7 bp) |
1 (0.8) |
29 |
IVSII.1 (G > A)/codon 30 (G > C) |
1 (0.8) |
30 |
IVSI.5 (G > C)/codon 8 (−AA) |
1 (0.8) |
31 |
IVSI.5 (G > C)/codon 44 (−C) |
1 (0.8) |
32 |
Codon 39 (C > T)/codon 5 (−CT) |
1 (0.8) |
33 |
Codon 39(C > T)/Codon 8/9 (+G) |
1 (0.8) |
34 |
Codon 44 (−C)/codon 8/9 (+G) |
1 (0.8) |
35 |
IVSI.1/Uncharacterized |
2 (1.6) |
36 |
IVS1.6/Uncharacterized |
1 (0.8) |
37 |
IVSII.1/Uncharacterized |
1 (0.8) |
38 |
Uncharacterized/Uncharacterized |
3 (2.4) |
|
|
Total |
127 (100) |