No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
1 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Male |
Not Rett synd. |
152 |
2 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Rett synd. |
153 |
3 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Rett syndrome-Not certain |
1538 |
4 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Male |
Not Rett synd. |
1539 |
5 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Male |
Not Rett synd. |
1570 |
6 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Rett syndrome-Not certain |
1655 |
7 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Known |
1724 |
8 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Known |
1757 |
9 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Male |
Not Rett synd. |
1908 |
10 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Known |
2126 |
11 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Male |
Not Rett synd. |
2153 |
12 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Rett synd. |
2493 |
13 |
c.1126C>T |
p.Pro376Ser |
Missense |
C-term |
Polymorphism not causing disease |
Female |
Not Rett synd. |
2495 |
14 |
c.1126C>T |
p.Pro376Ser |
missense |
C-term |
Polymorphism not causing disease |
Female |
Rett syndrome-classical |
2858 |
15 |
c.1126C>T |
p.Pro376Ser |
missense |
C-term |
Polymorphism not causing disease |
Female |
Not Rett synd. |
4045 |
16 |
c.1126C>T |
p.Pro376Ser |
missense |
C-term |
Polymorphism not causing disease |
Female |
Rett syndrome-not certain |
4072 |
17 |
c.1126C>T |
p.Pro376Ser |
missense |
C-term |
Polymorphism not causing disease |
Female |
Not Rett synd. |
4073 |