Distribution of FAS (TNFRSF6) Mutations
In 69 unrelated families, a total of 62 unique mutations have been reported.
*Total mutations [Unique mutations]
| |
Ex/Int
1 |
Ex/Int
2 |
Ex/Int
3 |
Ex/Int
4 |
Ex/Int
5 |
Ex/Int
6 |
Ex/Int
7 |
Ex/Int
8 |
Ex
9 |
Total |
| Missense |
|
1 |
2 |
1 |
|
1 |
|
|
22 [20] |
27 [25] |
| Nonsense |
|
2 |
2 |
|
|
|
1 |
|
5 [3] |
10 [8] |
| Insertion: Fr Shift |
|
1 |
|
|
|
|
|
|
3 |
4 |
| Deletion: Fr Shift |
|
2 [1] |
1 |
|
|
|
1 |
|
5 |
9 [8] |
| Splice |
1 |
|
3 |
1 |
|
1 |
3 |
5 [3] |
|
14 [12] |
| Complex |
|
|
|
1 |
1 |
|
|
|
2 |
4 |
| Large Deletions: |
|
|
|
|
|
|
|
|
1 |
1 |
| Total |
1 |
6 [5] |
8 |
3 |
1 |
2 |
5 |
5 [3] |
38 [34] |
69 [62] |
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