Distribution of IL2RG Mutations Causing X-SCID
Total mutations [unique mutations]
| |
Ex 1 |
Ex 2 |
Ex 3 |
Ex 4 |
Ex 5 |
Ex 6 |
Ex 7 |
Ex 8 |
Total |
| |
|
|
|
|
|
|
|
|
|
|
Missense |
5 [4] |
8 [7] |
13 [12] |
10 |
39 [12] |
12 [5] |
1 |
|
88 [51] |
| |
|
|
|
|
|
|
|
|
|
|
Nonsense |
|
3 [2] |
12 [8] |
9 [8] |
8 [4] |
|
12 [3] |
4 [2] |
48 [27] |
| |
|
|
|
|
|
|
|
|
|
|
Insertion: Fr Shift |
|
1 |
5 [2] |
|
1 |
1 |
1 |
|
9 [6] |
| |
|
|
|
|
|
|
|
|
|
|
Insertion: InFrame |
|
|
|
|
1 |
|
|
|
1 |
| |
|
|
|
|
|
|
|
|
|
|
Deletion: Fr Shift |
1 |
4 |
8 [7] |
3 |
6 |
10 [6] |
2 |
2 |
36 [31] |
| |
|
|
|
|
|
|
|
|
|
|
Deletion: InFrame |
|
|
|
2 |
|
|
|
|
2 |
| |
|
|
|
|
|
|
|
|
|
|
Splice |
4 [3] |
2 |
6 [2] |
7 [6] |
1 |
5 |
6 [5] |
3 |
34 [27] |
| |
|
|
|
|
|
|
|
|
|
|
Complex |
|
|
2 |
|
|
|
|
|
2 |
| |
|
|
|
|
|
|
|
|
|
|
Total |
10 [8] |
18 [16] |
46 [33] |
31 [29] |
56 [25] |
28 [17] |
22 [12] |
9 [7] |
220 [147] |
| |
|
|
|
|
|
|
|
|
|
|
Large Deletions: |
|
|
|
|
|
|
|
|
4 |
| |
|
|
|
|
|
|
|
|
|
|
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