No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
1 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
2730 |
2 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
2731 |
3 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
2732 |
4 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
2733 |
5 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
2734 |
6 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Female |
Not Rett synd. |
3863 |
7 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
4026 |
8 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
4027 |
9 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
4028 |
10 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
4029 |
11 |
c.*8503delC |
3'UTR variation |
3'UTR variation |
3'UTR |
Polymorphism not causing disease |
Unknown |
Not Rett synd. |
4030 |