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HFI Laboratory
at |
HFI Allele Database Statistics
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Exon Number: |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
8 |
9 |
IVS Number |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
8 |
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Number of
Mutated Alleles: |
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Number of
Mutations: |
0 |
3 |
3 |
1 |
4 |
3 |
2 |
3 |
3 |
|
0 |
1 |
1 |
0 |
2 |
1 |
0 |
1 |
Total number of alleles (records) in HFI allele database: 546
Total number of mutations in HFI allele database: 27
Number of mutations with missense mutation in database: 11
Number of mutations with deletions in database: 9
Number of mutations with insertions in database: 2
Number of mutations with splicing mutations in database: 4
Number of mutations with nonsense mutations in database: 4
Number of mutations with other type of mutations in database: 1
The most frequent mutations are:
A149P = 54
A174D = 14
Δ4E4 = 4
N334K = 3
R59Op = 1
L256P = 1