No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
1 |
c.1157_1188del32 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Preserved speech |
1181 |
2 |
c.1157_1188del32 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1257 |
3 |
c.1157_1188del32 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
1545 |
4 |
c.1157_1188del32 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Not Rett synd. |
1546 |
5 |
c.1157_1188del32 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2115 |
6 |
c.1157_1188del32 |
p.Leu386fs |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
2116 |
7 |
c.1157_1188del32 |
p.Leu386fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-atypical |
2973 |
8 |
c.1157_1188del32 |
p.Leu386fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3297 |
9 |
c.1157_1188del32 |
p.Leu386fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3304 |
10 |
c.1157_1188del32 |
p.Leu386fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3357 |
11 |
c.1157_1188del32 |
p.Leu386fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
3509 |
12 |
c.1157_1188del32 |
p.Leu386fs |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-not certain |
4709 |