No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
1 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Rett syndrome-Not certain |
1913 |
2 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
1914 |
3 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Known |
2118 |
4 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
2119 |
5 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Known |
2120 |
6 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
2121 |
7 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
2370 |
8 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
2527 |
9 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
2528 |
10 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Rett syndrome-classical |
3049 |
11 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
3859 |
12 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4043 |
13 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4048 |
14 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
4049 |
15 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
4408 |
16 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
4409 |
17 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Rett syndrome-not certain |
5228 |
18 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Rett syndrome-not certain |
5229 |
19 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
5230 |
20 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
5231 |
21 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
5232 |
22 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Rett syndrome-classical |
6611 |
23 |
c.*98dupA |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
6347 |