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Gross mutations (sorted by position):Click on the links (red) to see the detailed information
Type | Size | affected exon(s) | Family history |
No of cases | Note |
deletion |
>4 |
1,2,3 |
sporadic |
0 |
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deletion |
>9 |
1,2,3,4 |
positive |
0 |
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deletion |
>15 |
1,2,3,4,5,6,7,8 |
sporadic |
0 |
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deletion |
>15.0 |
1,2,3,4,5,6,7,8 |
positive |
0 |
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insertion |
?15.0 |
1,2,3,4,5,6,7,8 |
positive |
0 |
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deletion |
1.4 |
4 |
positive |
0 |
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deletion |
3.2 |
4 |
positive |
0 |
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deletion |
2.9 |
4 |
positive |
0 |
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insertion |
4 |
4 |
positive |
0 |
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deletion |
3.5 |
4 |
positive |
0 |
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insertion |
1.2 |
4 |
positive |
0 |
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deletion |
? |
4 |
positive |
0 |
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deletion |
? |
4 |
sporadic |
0 |
ND |
deletion |
? |
4 |
sporadic |
0 |
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deletion |
? |
4 |
positive |
0 |
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deletion |
? |
4 |
positive |
0 |
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deletion |
? |
4 |
positive |
0 |
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deletion |
4 |
4 |
positive |
0 |
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deletion |
2 |
4 |
sporadic |
0 |
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deletion |
2.6 |
4 |
positive |
0 |
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deletion |
3.2 |
4 |
unknown |
0 |
ND |
deletion |
2.75 |
4 |
positive |
0 |
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insertion |
3.2 |
4 |
unknown |
0 |
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deletion |
2.6 |
4 |
sporadic |
0 |
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deletion |
2.6 |
4 |
unknown |
0 |
ND |
deletion |
3.2 |
4 |
positive |
0 |
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insertion |
3.2 |
4 |
unknown |
0 |
ND |
deletion |
8.5 |
4,5,6 |
unknown |
0 |
ND |
deletion |
? |
5,6 |
positive |
0 |
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deletion |
5.5 |
5,6 |
sporadic |
0 |
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insertion |
2 |
5,6 |
positive |
0 |
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deletion |
4.5 |
5,6 |
positive |
0 |
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deletion |
? |
5,6,7,8 |
positive |
0 |
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deletion |
17 |
5,6,7,8 |
unknown |
0 |
ND |
deletion |
? |
6 |
sporadic |
0 |
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deletion |
2.6 |
7 |
positive |
0 |
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deletion |
1.7 |
7 |
unknown |
0 |
ND |
deletion |
1.7 |
7 |
unknown |
0 |
ND |
deletion |
>3.3 |
7,8 |
positive |
0 |
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deletion |
? |
7,8 |
sporadic |
0 |
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deletion |
? |
8 |
positive |
0 |
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deletion |
3.5 |
8 |
positive |
0 |
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deletion |
>1.6 |
8 |
sporadic |
0 |
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deletion |
>15 |
all |
sporadic |
0 |
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deletion |
9 |
unknown |
positive |
0 |
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|