No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
1 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
1386 |
2 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Rett syndrome-Not certain |
1541 |
3 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
2674 |
4 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Rett syndrome-atypical |
3858 |
5 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
4201 |
6 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
4202 |
7 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4203 |
8 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4204 |
9 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4205 |
10 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4206 |
11 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4207 |
12 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4208 |
13 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4209 |
14 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4210 |
15 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4211 |
16 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4212 |
17 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4213 |
18 |
c.*9G>A |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Male |
Not Rett synd. |
4214 |
19 |
c.*9G>A |
|
3' UTR variation |
3' UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
6873 |